Q92539
PR
Gene name |
LPIN2 |
Protein name |
Phosphatidate phosphatase LPIN2 |
Names |
Lipin-2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9663 |
EC number |
3.1.3.4: Phosphoric monoester hydrolases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q92539
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q92539-F1 | Predicted | AlphaFoldDB |
720 variants for Q92539
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs371299772 CA8873649 RCV001126385 RCV000214650 |
19 | Y>C | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1568575278 RCV000706560 CA401711627 |
24 | Q>R | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804776 rs774019375 CA8873644 |
36 | V>I | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201473097 RCV001339614 CA8873642 |
42 | S>T | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747502342 CA8873640 RCV001061567 |
44 | Q>R | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001854731 rs876660982 RCV000219594 |
46 | S>missing | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8873636 rs754730690 RCV001319034 |
64 | V>A | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1385257235 RCV000802267 CA401710736 |
67 | I>T | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1448362269 RCV001299547 CA401710743 |
67 | I>V | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555677681 RCV000625013 CA401710711 |
69 | I>T | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077534072 RCV001302372 |
109 | P>S | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8873576 RCV000400120 rs181542503 RCV001507395 |
118 | I>T | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8873569 rs542116963 RCV002561732 RCV001210245 |
125 | S>L | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases Majeed syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA401709208 RCV000811733 rs542116963 |
125 | S>W | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000824191 CA8873567 rs778376881 |
126 | G>D | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000524552 CA8873565 rs191101701 |
130 | T>A | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2077531992 RCV001242555 |
137 | I>T | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147615538 RCV001703462 CA8873555 RCV001000957 RCV002263672 |
149 | P>L | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs916009547 RCV000661951 CA295517131 |
157 | R>* | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA401708944 rs1187367177 RCV001048369 |
166 | S>G | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8873544 RCV000585139 RCV002263817 rs751939691 |
167 | K>N | Autoinflammatory syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs140609636 CA8873539 RCV002263881 RCV000644770 |
173 | A>T | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000697054 CA401708882 rs1334969199 |
175 | A>P | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs80338806 RCV000005191 |
180 | T>* | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8873530 rs148620026 RCV002264226 RCV001217499 |
185 | V>M | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1290039087 RCV001352500 CA401708763 |
193 | A>V | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000526577 rs1226336598 CA401708750 |
195 | A>G | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000703303 rs1226336598 RCV002223242 CA401708749 |
195 | A>V | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8873522 rs750126005 RCV000687297 |
197 | R>* | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8873343 RCV001123722 rs746938405 |
201 | N>D | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001705234 rs144555528 CA8873342 RCV002262816 RCV000313730 |
203 | S>F | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001052706 rs749710348 |
208 | E>missing | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687638 RCV002263931 CA8873331 rs139654849 RCV001507394 |
233 | T>I | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8873332 rs139654849 RCV001226094 COSM4153947 |
233 | T>N | kidney Majeed syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs774296727 RCV000817030 CA8873299 RCV002534916 |
252 | A>V | Inborn genetic diseases Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8873295 rs765149855 RCV001869029 RCV000757436 |
256 | L>I | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8873292 rs772512144 RCV001304915 |
259 | E>D | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755432834 RCV000822881 CA8873289 |
268 | G>R | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001051172 rs1171826173 CA401707068 |
277 | K>R | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001002083 CA8873265 rs200426834 |
283 | H>Y | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs759046454 RCV001123721 |
295 | N>I | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs139798681 RCV000816514 CA8873250 RCV002264013 |
303 | S>R | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000396313 rs886053768 CA10641283 |
311 | V>D | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8873243 RCV002264266 RCV001320667 rs777659252 |
315 | A>V | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8873240 rs150648432 RCV003224229 RCV000221648 |
320 | T>I | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs765953887 RCV001286673 |
323 | T>I | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1476358117 RCV000539036 CA401706613 |
324 | I>L | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA342167 rs80338805 RCV000755296 RCV002262570 RCV000020710 |
331 | A>S | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001244419 rs2077310320 |
348 | P>missing | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000859343 RCV000020708 RCV002262569 rs34676691 CA342163 |
348 | P>L | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2077310038 RCV001123720 |
351 | E>Q | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211655 rs2077309425 |
358 | M>T | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8873220 rs767142433 RCV000802379 |
361 | A>V | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs540544894 RCV000348256 CA8873216 RCV000216428 |
367 | A>T | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs201830346 RCV002519750 RCV000216263 CA8873213 |
372 | A>V | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8873211 rs772230305 RCV001065779 |
373 | P>L | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000813572 CA8873207 rs146067222 |
378 | P>L | Variant assessed as Somatic; 0.0 impact. Majeed syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000482609 rs201678207 CA8873208 RCV000312207 |
378 | P>S | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs751176955 CA8873201 RCV001226085 |
382 | V>G | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8873200 rs765616457 RCV000798960 |
384 | S>L | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000792434 rs754221410 CA8873198 RCV000521005 |
385 | P>L | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA267510 RCV000084066 RCV001258259 RCV002262673 rs104895501 RCV000220059 |
387 | K>E | Psoriasis Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs761918167 RCV001040602 CA8873174 |
390 | G>A | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886053767 RCV000372888 CA10641282 |
391 | V>I | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1215786797 CA401705453 RCV001043135 |
400 | P>L | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA295504638 rs1018736752 RCV000644763 |
401 | D>E | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077255674 RCV001322269 |
410 | G>D | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8873162 rs777239535 RCV000481532 RCV000341576 |
416 | A>V | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001346992 RCV000213158 rs772737665 CA8873143 |
425 | S>L | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000644769 CA8873139 RCV002263880 rs768189312 |
428 | G>S | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8873135 RCV000644766 rs138079183 |
438 | L>F | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000034150 rs318240736 |
439 | S>missing | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA401704440 RCV000644767 rs1555673672 |
439 | S>P | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001039091 rs2077211393 |
441 | S>C | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000553916 RCV001571709 rs373758040 RCV000506154 CA8873128 |
447 | V>M | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000765412 RCV000274345 rs771486222 CA8873125 |
450 | A>T | Variant assessed as Somatic; 0.0002807 impact. Majeed syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000821747 RCV002537511 rs368807055 CA8873122 |
456 | T>I | Inborn genetic diseases Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002516188 RCV001360637 rs781705610 CA8873120 RCV000218103 |
459 | L>V | Inborn genetic diseases Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2077210318 RCV001298675 |
464 | M>V | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077209843 RCV001243942 |
475 | G>R | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002264243 CA8873111 RCV001238623 rs377661526 |
481 | G>A | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8873080 RCV001300592 rs759229367 |
496 | H>R | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1480292 RCV000213383 RCV002262817 CA8873078 RCV001087742 rs201325845 |
497 | E>K | large_intestine Autoinflammatory syndrome breast Majeed syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000218346 CA10577582 rs876660986 RCV001854732 |
498 | F>L | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077177749 RCV001219382 |
502 | P>A | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000762223 CA267513 RCV000221897 RCV002262674 RCV000084067 rs104895500 |
504 | L>F | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs146424724 RCV000214912 CA8873077 RCV000644772 RCV002516189 |
505 | I>T | Inborn genetic diseases Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA401703970 rs1598528577 RCV000807945 |
508 | P>S | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139768435 RCV001285655 CA8873042 |
539 | P>R | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA8873015 rs760055156 RCV000213484 RCV001854733 |
544 | E>G | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002263667 RCV002521444 CA8872984 rs148779863 RCV000414093 RCV001861440 |
574 | S>T | Autoinflammatory syndrome Inborn genetic diseases Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8872979 RCV000271785 RCV002262818 rs150022314 RCV000755295 |
579 | S>P | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8872976 RCV002262827 RCV000216314 RCV003165580 rs755110304 RCV001300321 |
582 | P>L | Variant assessed as Somatic; 0.0 impact. Autoinflammatory syndrome Inborn genetic diseases Majeed syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001302280 rs2077137787 |
585 | S>T | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2077137437 RCV001312969 |
592 | K>R | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219050 CA8872970 rs139826951 RCV001217505 |
594 | P>L | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8872968 rs373929015 RCV002263040 RCV003168486 RCV000384753 |
595 | A>P | Autoinflammatory syndrome Inborn genetic diseases Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000325500 CA8872947 RCV000755297 rs372850864 |
599 | P>L | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000515075 RCV000999782 RCV000126642 rs61735393 CA291955 RCV002262727 |
601 | E>K | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001314086 RCV000215179 rs781778980 CA8872941 |
605 | S>L | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000236982 rs143090653 RCV002262851 CA8872930 RCV001001648 |
623 | P>S | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8872929 rs150806357 RCV001572772 RCV002263675 RCV000999999 |
626 | P>S | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002264196 RCV001126294 CA8872925 rs148607670 |
630 | G>S | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2077113045 RCV001061770 |
642 | S>missing | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779176377 RCV001217145 RCV002562421 CA8872918 |
644 | D>N | Inborn genetic diseases Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001229164 rs2077102755 |
647 | A>V | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071111 CA8872890 rs148258407 |
653 | D>N | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA295495196 rs948057549 RCV001055173 |
659 | V>M | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8872845 rs754622332 RCV001344802 |
697 | S>L | Variant assessed as Somatic; 0.0 impact. Majeed syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs200256485 CA8872832 RCV001126292 |
721 | H>Y | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000218824 CA8872831 rs140915714 RCV002262819 RCV001060981 |
724 | N>S | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001347412 rs2077065305 |
730 | F>S | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002262558 rs80338807 RCV000222509 RCV000005190 CA340316 VAR_023817 |
734 | S>L | Variant assessed as Somatic; 0.0 impact. Autoinflammatory syndrome Majeed syndrome MJDS [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs779519224 RCV001234590 CA8872804 |
736 | R>H | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000644765 rs779538504 CA8872799 RCV002510942 |
742 | D>N | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000547642 rs1555672260 CA401697279 |
746 | G>D | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001309916 rs1598519554 |
749 | H>R | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001037929 CA295494467 rs1028913918 |
754 | K>R | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001045993 rs2077063454 |
760 | R>Q | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305020 CA295494444 RCV002264260 rs750526323 |
773 | A>T | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2077055890 RCV001342713 |
779 | I>T | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8872744 RCV000485568 rs183821298 RCV001865425 |
794 | I>T | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000215296 CA8872740 RCV001363102 rs748431474 |
800 | P>L | Variant assessed as Somatic; 0.0 impact. Majeed syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA10577581 RCV000215545 rs876660987 RCV000560055 |
803 | Q>H | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000820106 rs752533626 CA8872735 |
807 | A>V | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2077043149 RCV001309787 |
820 | T>A | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001063401 rs2077042167 |
844 | K>R | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1251007885 RCV001315110 CA401694027 |
846 | N>T | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001230977 CA8872662 rs768061281 |
856 | L>R | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8872663 RCV001314825 rs200839841 |
856 | L>V | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1346809433 RCV000685276 CA401693944 |
857 | V>L | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2077036512 RCV001125326 |
858 | E>G | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA401693847 rs1210159824 RCV001348621 |
871 | A>V | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000792772 CA401693837 rs757315664 |
873 | P>T | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002262820 rs201160155 RCV000658798 CA8872654 RCV000274408 |
874 | C>F | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000644764 rs201160155 CA401693829 |
874 | C>Y | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2077035373 RCV001054476 |
875 | P>T | Majeed syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644771 CA8872646 RCV000222683 rs547662448 |
884 | R>* | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs140002239 CA8872643 RCV001220114 |
885 | D>E | Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000300063 rs147203309 CA8872641 RCV002263039 |
886 | P>L | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8872637 rs200648652 RCV002263038 RCV000395862 RCV000480316 |
891 | D>N | Autoinflammatory syndrome Majeed syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA401711792 rs1217829660 |
2 | N>Y | No |
ClinGen TOPMed |
|
|
CA401711726 rs1201537617 |
10 | Q>H | No |
ClinGen TOPMed |
|
|
CA8873654 rs752882976 |
11 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA401711684 rs1444863905 |
17 | E>* | No |
ClinGen TOPMed |
|
|
CA401711666 rs1226141172 |
19 | Y>* | No |
ClinGen gnomAD |
|
|
rs141471055 CA295524082 |
29 | G>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA401711546 rs1469561472 |
32 | D>V | No |
ClinGen TOPMed |
|
|
rs200997153 CA295524078 |
33 | V>A | No |
ClinGen 1000Genomes |
|
|
CA295524074 rs961211983 |
34 | I>M | No |
ClinGen Ensembl |
|
|
rs368241948 CA8873645 |
35 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401711474 rs1456873217 |
39 | Q>R | No |
ClinGen gnomAD |
|
|
rs1179090563 CA401711453 |
41 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA401711450 rs1479660869 |
41 | G>D | No |
ClinGen gnomAD |
|
|
rs1179090563 CA401711452 |
41 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201473097 CA295524057 |
42 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771496330 CA8873641 |
43 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243307148 CA401711386 |
47 | P>A | No |
ClinGen gnomAD |
|
|
rs1206251835 CA401711359 |
49 | H>L | No |
ClinGen gnomAD |
|
|
CA401711354 rs1263361755 |
50 | V>I | No |
ClinGen gnomAD |
|
|
rs758430904 CA8873639 |
51 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 51 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264741042 CA401711345 |
51 | R>Q | No |
ClinGen TOPMed |
|
|
rs758430904 CA401711346 |
51 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs149316726 CA8873638 |
52 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401711324 rs1480992055 |
53 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1215036338 CA401711242 |
62 | E>* | No |
ClinGen gnomAD |
|
|
CA401710763 rs1369318023 |
65 | I>V | No |
ClinGen gnomAD |
|
|
CA8873615 rs749445661 |
66 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA401710733 rs1189226020 |
67 | I>M | No |
ClinGen gnomAD |
|
|
rs1039037183 CA295519745 |
68 | E>G | No |
ClinGen Ensembl |
|
|
CA295519719 rs867892532 |
71 | G>S | No |
ClinGen Ensembl |
|
|
CA8873613 rs755936540 |
74 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8873612 rs750411797 |
75 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA401710615 rs1272411686 |
76 | L>P | No |
ClinGen gnomAD |
|
|
rs1204296716 CA401710523 |
82 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1323744102 CA401710534 |
82 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA401710485 COSM563494 rs1568565424 |
84 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA8873610 rs375162582 |
85 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA401710471 rs1242670886 |
85 | E>G | No |
ClinGen gnomAD |
|
|
CA295519697 rs921704106 |
87 | F>C | No |
ClinGen TOPMed |
|
|
rs1417424030 CA401710372 |
91 | E>D | No |
ClinGen TOPMed |
|
|
rs762717936 CA401710341 |
94 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762717936 CA8873607 |
94 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295519682 rs963403695 |
95 | E>D | No |
ClinGen TOPMed |
|
|
rs774963267 CA8873606 |
95 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373747603 CA295519676 |
96 | Y>C | No |
ClinGen ESP |
|
|
rs1296333542 CA401709392 |
98 | K>E | No |
ClinGen TOPMed |
|
|
CA401709386 rs1339674702 |
98 | K>N | No |
ClinGen TOPMed |
|
|
CA8873582 rs762419792 |
100 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA401709339 rs1262466817 |
105 | T>I | No |
ClinGen gnomAD |
|
|
rs774683158 CA8873581 |
110 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA401709308 rs1206621033 |
110 | T>I | No |
ClinGen TOPMed |
|
|
rs768806171 CA8873580 CA401709301 |
111 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749272718 CA401709296 |
112 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8873579 rs749272718 |
112 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1267723776 CA401709298 |
112 | D>Y | No |
ClinGen gnomAD |
|
|
rs775863602 CA8873578 COSM987702 |
114 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA401709258 rs1598559756 |
117 | D>G | No |
ClinGen Ensembl |
|
|
CA8873575 rs746075407 |
118 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA295517315 rs1049311211 |
119 | D>N | No |
ClinGen Ensembl |
|
|
rs562075898 CA8873573 |
120 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401709239 rs562075898 |
120 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401709236 rs142161739 |
121 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142161739 CA8873572 |
121 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777511827 CA8873571 |
123 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8873566 rs754670856 |
128 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA295517240 rs191101701 |
130 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA401709177 rs1447724746 |
131 | P>A | No |
ClinGen gnomAD |
|
|
rs943795518 CA295517237 |
132 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA401709159 rs1451619820 |
133 | Q>H | No |
ClinGen Ensembl |
|
|
rs1230123092 CA401709135 |
137 | I>V | No |
ClinGen TOPMed |
|
|
rs1295935002 CA401709124 |
138 | S>L | No |
ClinGen TOPMed |
|
|
CA8873562 rs762038320 |
139 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1242004404 CA401709114 |
140 | V>A | No |
ClinGen TOPMed |
|
|
rs751024451 CA8873560 |
140 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763550824 CA8873559 |
141 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763550824 CA401709108 |
141 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8873558 rs775771585 |
143 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769973797 CA8873557 |
143 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1296446486 CA401709082 |
145 | T>K | No |
ClinGen gnomAD |
|
|
rs1214649540 CA401709074 |
146 | I>S | No |
ClinGen TOPMed |
|
|
rs376661021 CA8873556 |
149 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1190747618 CA401709053 |
150 | S>G | No |
ClinGen TOPMed |
|
|
CA295517152 rs757959382 |
151 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 151 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8873554 rs770771546 |
152 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1568559839 CA401709027 |
154 | K>E | No |
ClinGen Ensembl |
|
|
rs1257836532 CA401709008 |
156 | K>R | No |
ClinGen gnomAD |
|
|
CA295517124 rs865850155 |
157 | R>Q | No |
ClinGen gnomAD |
|
|
CA8873551 rs771956605 |
160 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA401708967 rs754441631 CA8873549 |
162 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372651452 CA8873550 |
162 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8873546 rs368650663 |
164 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8873547 rs368650663 |
164 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401708906 rs1289032711 |
170 | E>D | No |
ClinGen TOPMed |
|
|
CA401708909 rs1437086053 |
170 | E>G | No |
ClinGen TOPMed |
|
|
CA8873543 rs764506252 |
172 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs763605501 CA8873542 |
172 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8873540 rs140609636 |
173 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8873538 rs776916078 |
173 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA401708885 rs1314271671 |
174 | S>F | No |
ClinGen TOPMed |
|
|
CA401708889 rs1282058238 |
174 | S>P | No |
ClinGen gnomAD |
|
|
CA401708879 rs1234401606 |
175 | A>V | No |
ClinGen TOPMed |
|
|
rs771124653 CA8873537 |
176 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1407966324 CA401708836 |
182 | D>H | No |
ClinGen gnomAD |
|
|
rs1407966324 CA401708837 |
182 | D>N | No |
ClinGen gnomAD |
|
|
rs748113065 CA8873533 |
183 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA401708822 rs1162830363 |
184 | G>D | No |
ClinGen gnomAD |
|
|
rs774222332 CA8873532 |
184 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10577585 RCV000223118 rs876660983 |
187 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1270217201 CA401708801 |
188 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8873527 rs745512738 |
189 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs778040063 CA8873526 |
191 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA401708769 rs1475616327 |
192 | G>E | No |
ClinGen TOPMed |
|
|
rs753267776 CA8873524 |
192 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA295516914 rs539324906 |
193 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8873523 rs539324906 |
193 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401708762 rs1386167948 |
194 | Q>K | No |
ClinGen gnomAD |
|
|
rs753918449 CA8873521 |
197 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8873344 rs146632748 |
199 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401707903 rs1278307962 |
200 | S>L | No |
ClinGen gnomAD |
|
|
rs746938405 CA401707901 |
201 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA401707879 rs1191337998 |
204 | L>F | No |
ClinGen gnomAD |
|
|
CA401707875 rs1478685672 |
205 | K>* | No |
ClinGen gnomAD |
|
|
CA8873341 rs771573884 |
211 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA401707825 rs1465045218 |
211 | E>V | No |
ClinGen gnomAD |
|
|
CA401707822 rs1400299726 |
212 | P>S | No |
ClinGen TOPMed |
|
|
CA401707802 rs1269840292 |
215 | F>L | No |
ClinGen gnomAD |
|
|
rs868539717 CA295509636 |
216 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8873340 rs747722528 |
217 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA295509635 rs747722528 |
217 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA401707784 rs1333808105 |
218 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 219 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 220 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376567516 CA295509628 |
220 | H>N | No |
ClinGen gnomAD |
|
|
rs778378973 CA8873339 |
220 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8873337 rs754634565 |
222 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA8873336 rs748940637 |
223 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs781443690 CA8873335 |
224 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1299522441 CA401707735 |
225 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 226 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8873334 rs375646718 |
227 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375646718 CA295509582 |
227 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178794878 CA401707718 |
228 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA295509577 rs1013107286 |
230 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA295509572 rs959123252 |
232 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8873303 rs760872281 |
234 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8873302 RCV000996634 rs750268013 |
235 | Y>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA401707466 rs1315347387 |
235 | Y>D | No |
ClinGen gnomAD |
|
|
rs1355390965 CA401707458 |
236 | P>L | No |
ClinGen gnomAD |
|
|
rs906017558 CA295508946 |
239 | A>P | No |
ClinGen Ensembl |
|
|
rs201570689 CA295508943 |
239 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA401707436 rs1555675288 RCV000585006 |
240 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 244 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761771649 CA8873300 |
249 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA401707292 rs1263186007 |
251 | P>L | No |
ClinGen TOPMed |
|
|
rs1350091087 CA401707295 |
251 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA401707297 rs1350091087 |
251 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA295508920 rs1012224410 |
253 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA8873296 rs774861141 |
255 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA295508897 rs765149855 |
256 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8873293 rs778325300 |
257 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA401707260 rs1488967955 |
257 | R>T | No |
ClinGen gnomAD |
|
|
CA401707245 rs1267386721 |
259 | E>V | No |
ClinGen gnomAD |
|
|
rs876660984 CA10577584 RCV000219864 |
261 | H>D | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1334562388 CA401707199 |
265 | T>M | No |
ClinGen gnomAD |
|
|
CA401707186 rs1230818585 |
267 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | F>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401707159 rs1390304788 |
271 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 271 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA295507885 rs937990851 |
275 | V>D | No |
ClinGen TOPMed |
|
|
CA401707075 rs1449520186 |
277 | K>E | No |
ClinGen TOPMed |
|
|
rs1454039880 CA401707064 |
278 | R>G | No |
ClinGen gnomAD |
|
|
CA401707036 rs759667494 |
280 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 280 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8873267 rs749727482 |
280 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA295507872 rs774363389 |
282 | D>G | No |
ClinGen Ensembl |
|
|
CA8873264 rs746103649 |
283 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs374042100 CA8873263 |
284 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401706973 rs1281902782 |
286 | R>K | No |
ClinGen gnomAD |
|
|
CA8873261 rs751433012 |
287 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA295507831 rs766692933 |
288 | A>V | No |
ClinGen gnomAD |
|
|
rs1350761996 CA401706948 |
289 | T>A | No |
ClinGen TOPMed |
|
|
CA8873260 rs534179898 |
290 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA295507812 rs763315273 |
291 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA401706929 rs1317338394 |
291 | T>P | No |
ClinGen gnomAD |
|
|
CA8873259 rs752540529 |
292 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752540529 CA8873258 |
292 | P>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 293 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 293 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391029101 CA401706877 |
295 | N>K | No |
ClinGen gnomAD |
|
|
CA8873256 rs759046454 |
295 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 297 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766189065 CA8873254 |
299 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8873255 rs776274863 |
299 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8873252 rs774817511 |
302 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs775919280 CA8873249 |
303 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs746017379 CA8873247 |
305 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA8873245 rs757551111 |
309 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1233668641 CA401706695 |
312 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8873244 rs747171291 |
315 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752681278 CA8873241 |
317 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 318 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8873239 rs754949110 |
321 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs765953887 CA8873237 |
323 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1476358117 CA401706614 |
324 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 325 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401706602 rs1187812027 |
326 | K>Q | No |
ClinGen gnomAD |
|
|
rs772689526 CA8873235 |
328 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs775829546 CA8873233 |
333 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs531715581 CA8873234 |
333 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs775829546 CA401706555 |
333 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1261706838 CA401706540 |
336 | M>V | No |
ClinGen gnomAD |
|
|
rs563019654 CA8873232 |
337 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375422942 CA401706526 CA8873231 |
337 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs532359167 CA8873230 |
338 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA401706511 rs1336611431 |
340 | T>A | No |
ClinGen gnomAD |
|
|
CA401706509 rs1271226787 |
340 | T>K | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319007622 CA401706491 |
343 | A>S | No |
ClinGen TOPMed |
|
|
CA401706465 rs1281403816 |
345 | L>F | No |
ClinGen gnomAD |
|
|
rs777787517 CA8873228 |
345 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs777787517 CA401706462 |
345 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1324394940 CA401706448 COSM178517 |
347 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs778825863 CA401706417 |
349 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA295507562 rs778825863 |
349 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs778825863 RCV000757434 CA8873226 |
349 | P>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA8873224 rs371197584 |
350 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1380674261 CA401706398 |
351 | E>A | No |
ClinGen TOPMed |
|
|
CA295507551 rs377297663 |
352 | S>C | No |
ClinGen ESP TOPMed |
|
|
rs1265532295 CA401706381 |
352 | S>T | No |
ClinGen gnomAD |
|
|
rs779638735 CA8873223 |
354 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 356 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401706319 rs1178431740 |
357 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA8873221 rs750095569 |
358 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1468101530 CA401706316 |
358 | M>V | No |
ClinGen gnomAD |
|
|
rs1598540792 CA401706244 |
363 | H>P | No |
ClinGen Ensembl |
|
|
CA401706216 rs1469507863 |
366 | N>D | No |
ClinGen gnomAD |
|
|
CA401706212 rs201050982 |
366 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8873219 rs761514979 |
366 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401706213 rs761514979 |
366 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540544894 CA8873217 |
367 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777078041 CA8873215 |
367 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA401706198 rs1240958521 |
369 | L>S | No |
ClinGen TOPMed |
|
|
rs771059835 CA8873214 |
370 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004323733 COSM1213628 CA295507449 |
373 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA401706156 rs1598540662 |
376 | S>A | No |
ClinGen Ensembl |
|
|
CA401706147 rs1400400749 |
377 | K>I | No |
ClinGen TOPMed |
|
|
CA401706146 rs1598540648 |
377 | K>N | No |
ClinGen Ensembl |
|
|
rs756074840 CA8873205 |
379 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA295507421 rs867733847 |
380 | A>S | No |
ClinGen Ensembl |
|
|
rs371808596 CA8873203 |
381 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401706124 rs574890650 |
381 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1486044509 CA401706122 |
382 | V>I | No |
ClinGen gnomAD |
|
|
rs1346728777 CA401706103 |
385 | P>S | No |
ClinGen TOPMed |
|
|
rs1013137894 CA401706073 |
389 | K>N | No |
ClinGen gnomAD |
|
|
rs774569139 CA8873173 |
392 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 394 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA295504653 rs17883495 |
394 | R>K | No |
ClinGen Ensembl |
|
|
rs1355919078 CA401705524 |
395 | S>N | No |
ClinGen gnomAD |
|
|
CA8873172 rs764469035 |
396 | Q>E | No |
ClinGen ExAC |
|
| TCGA novel | 397 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763247417 CA8873171 |
398 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474165384 CA401705447 |
401 | D>A | No |
ClinGen gnomAD |
|
|
rs1474165384 CA401705445 |
401 | D>G | No |
ClinGen gnomAD |
|
|
rs775190257 CA8873170 |
401 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs769593349 CA8873168 |
403 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 403 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332067792 CA401705337 |
409 | K>R | No |
ClinGen gnomAD |
|
|
CA8873167 rs745818701 |
410 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8873165 rs770437067 |
412 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746576004 CA8873164 |
412 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 417 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401705236 rs1398300733 |
418 | L>R | No |
ClinGen gnomAD |
|
|
rs758083052 CA8873161 |
418 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 419 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401704535 rs1389940068 |
424 | E>G | No |
ClinGen gnomAD |
|
|
CA401704522 rs1555673693 |
426 | E>G | No |
ClinGen Ensembl |
|
|
CA8873141 rs747767790 |
427 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs746301815 CA401704505 |
429 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs746301815 CA8873138 |
429 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1451341409 CA401704500 |
430 | R>T | No |
ClinGen gnomAD |
|
|
rs1263078683 CA401704477 |
433 | P>S | No |
ClinGen gnomAD |
|
|
CA401704462 rs1258499638 |
435 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA8873133 rs758448894 |
438 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA401704444 rs758448894 |
438 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA8873134 rs138079183 |
438 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8873132 rs752869856 |
439 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA401704434 rs1318702033 |
440 | G>D | No |
ClinGen gnomAD |
|
|
CA401704437 rs1330257330 |
440 | G>S | No |
ClinGen gnomAD |
|
|
CA8873131 rs765566027 |
442 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA401704422 rs765566027 |
442 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 445 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373758040 CA295497373 |
447 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760625252 CA8873127 |
448 | G>A | No |
ClinGen ExAC |
|
|
rs201985255 CA295497363 |
451 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA401704343 rs1485685610 |
455 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 455 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760429116 CA8873123 |
456 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1598531647 CA401704328 |
457 | E>D | No |
ClinGen Ensembl |
|
|
rs982902380 CA295497342 |
457 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA401704294 rs1413996608 |
462 | S>C | No |
ClinGen TOPMed |
|
|
rs1301397123 CA401704283 |
464 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs915870050 CA295497335 |
465 | D>G | No |
ClinGen gnomAD |
|
|
rs747519646 CA8873118 |
467 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1406028456 CA401704237 |
471 | L>F | No |
ClinGen TOPMed |
|
|
rs370896659 CA8873115 |
473 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414181848 CA401704205 |
476 | G>D | No |
ClinGen gnomAD |
|
|
CA8873113 rs571085377 |
479 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377661526 CA8873110 |
481 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 481 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 486 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000220332 rs876660985 CA10577583 |
489 | M>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1482402928 CA401704091 |
490 | E>G | No |
ClinGen TOPMed |
|
|
CA401704025 rs1323426575 |
499 | A>V | No |
ClinGen gnomAD |
|
|
rs769140797 CA8873076 |
505 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113195728 CA295496440 |
506 | D>G | No |
ClinGen Ensembl |
|
|
rs753463065 CA295496438 |
507 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA401703975 rs753463065 |
507 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA8873075 rs749438168 |
510 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs749438168 CA401703957 |
510 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA401703951 rs1194043952 |
511 | V>L | No |
ClinGen gnomAD |
|
|
CA401703942 rs1598528554 |
512 | I>M | No |
ClinGen Ensembl |
|
|
rs916326888 CA295496432 |
512 | I>V | No |
ClinGen TOPMed |
|
|
rs780077282 CA8873074 |
513 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs756376741 CA8873073 |
514 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA8873072 rs746027036 |
515 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA401703928 rs1220796133 |
515 | Y>H | No |
ClinGen gnomAD |
|
|
rs781071052 CA8873071 |
517 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV000217293 rs756933588 CA8873070 |
517 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA401703871 rs1351641398 |
521 | W>L | No |
ClinGen TOPMed |
|
|
rs752646300 CA8873045 |
521 | W>R | No |
ClinGen ExAC |
|
|
CA401703863 rs1598527923 |
522 | A>G | No |
ClinGen Ensembl |
|
|
CA401703840 rs1278496380 |
526 | P>S | No |
ClinGen TOPMed |
|
|
rs373710672 CA401703801 CA295496311 |
531 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA401703798 rs1175109245 RCV000579139 |
532 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1175109245 CA401703800 |
532 | Q>K | No |
ClinGen gnomAD |
|
|
rs1598527903 CA401703797 |
532 | Q>P | No |
ClinGen Ensembl |
|
|
rs1250983699 CA401703792 |
533 | V>L | No |
ClinGen TOPMed |
|
|
rs1598526890 CA401703717 |
541 | A>V | No |
ClinGen Ensembl |
|
|
CA8873016 rs765796566 |
543 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs534583981 CA8873017 |
543 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 544 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8873014 rs570344321 |
547 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570344321 CA295496105 |
547 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760815612 CA8873012 |
548 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401703669 rs1445698802 |
549 | D>A | No |
ClinGen gnomAD |
|
|
rs1446682389 CA401703667 |
549 | D>E | No |
ClinGen TOPMed |
|
|
CA401703647 rs1395161006 |
552 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA401703624 rs1295179123 |
555 | S>A | No |
ClinGen gnomAD |
|
|
CA8873011 rs773514460 |
555 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317105671 CA401703621 |
556 | G>S | No |
ClinGen gnomAD |
|
|
rs1159911876 CA401703613 |
557 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1441849515 CA401703612 |
557 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1441849515 CA401703610 |
557 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA401703572 rs1476056180 |
562 | R>Q | No |
ClinGen TOPMed |
|
|
rs367708357 CA8873009 |
564 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA401703559 rs1383753120 |
564 | R>T | No |
ClinGen TOPMed |
|
|
rs565682994 CA8873007 |
565 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1269871789 CA401703539 |
567 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 568 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401703177 rs151293770 |
571 | L>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA295495853 rs142392384 |
571 | L>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs151293770 CA295495855 |
571 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA295495851 rs886160840 |
572 | P>S | No |
ClinGen Ensembl |
|
|
rs749186650 CA8872985 |
573 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs199854941 CA8872982 |
575 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs946046520 CA401703121 |
576 | E>* | No |
ClinGen TOPMed |
|
|
rs946046520 CA295495841 |
576 | E>K | No |
ClinGen TOPMed |
|
|
rs780646600 CA8872981 |
577 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8872980 rs150022314 |
579 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1598525508 CA401703076 |
581 | A>P | No |
ClinGen Ensembl |
|
|
rs200721237 CA8872978 |
581 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1477117796 CA401703071 |
582 | P>S | No |
ClinGen gnomAD |
|
|
rs1442648155 CA401703065 |
583 | P>L | No |
ClinGen gnomAD |
|
|
rs767658356 CA8872972 |
587 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs767658356 CA295495829 |
587 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs948963083 CA295495825 |
588 | P>S | No |
ClinGen gnomAD |
|
|
rs1315980274 CA401702998 |
593 | E>D | No |
ClinGen gnomAD |
|
|
rs1220457835 CA401703001 |
593 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762157691 CA8872971 |
593 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA401702990 rs1332392823 |
595 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs373929015 CA401702991 |
595 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769806854 CA8872966 |
596 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173260427 CA401702980 |
597 | A>T | No |
ClinGen gnomAD |
|
|
rs751753551 CA295495816 |
597 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 599 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401702330 rs1238471420 |
600 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 600 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348580429 CA401702245 |
603 | D>H | No |
ClinGen gnomAD |
|
|
rs746391348 CA8872942 |
604 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs770217970 CA8872943 |
604 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1417460855 CA401702165 |
606 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8872938 rs777689373 |
608 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA8872937 rs758666065 |
609 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs752818468 CA401702064 |
611 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752818468 CA8872936 |
611 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 612 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765017173 CA8872935 |
614 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 614 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401701926 rs1288225001 |
616 | S>F | No |
ClinGen gnomAD |
|
|
CA295495434 rs932813179 |
617 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754828448 CA8872934 |
618 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA8872932 rs766347072 |
619 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA295495428 rs760510209 |
620 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401701836 rs1366138497 |
620 | D>V | No |
ClinGen gnomAD |
|
|
rs1221458844 CA401701822 |
621 | P>T | No |
ClinGen gnomAD |
|
|
rs941401458 CA295495424 |
623 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
RCV000756311 rs941401458 CA401701785 COSM1303677 |
623 | P>L | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs774090516 CA401701700 |
627 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs774090516 CA8872927 |
627 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs368889254 CA295495417 |
629 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA401701580 rs1225914430 |
632 | T>I | No |
ClinGen TOPMed |
|
|
rs777104050 CA8872924 |
633 | T>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000996633 rs747422654 CA8872922 |
635 | Y>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs771517419 CA8872923 |
635 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs758341329 CA8872920 |
636 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA401701404 rs1308403465 |
640 | R>C | No |
ClinGen TOPMed |
|
|
CA295495405 rs1036019863 |
640 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs755164449 CA401701320 |
644 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA401701327 rs1278329924 |
644 | D>G | No |
ClinGen gnomAD |
|
|
rs1439517129 CA401701307 |
645 | Q>R | No |
ClinGen gnomAD |
|
|
rs1598522668 CA401701158 |
647 | A>S | No |
ClinGen Ensembl |
|
|
rs1568513499 CA401701089 |
651 | L>V | No |
ClinGen Ensembl |
|
|
rs1402407709 CA401701072 |
652 | H>Y | No |
ClinGen gnomAD |
|
|
rs148258407 CA8872891 |
653 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751164288 CA8872889 |
653 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs752327253 CA8872887 |
662 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752327253 CA8872886 |
662 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1236699605 CA401700858 |
663 | T>K | No |
ClinGen gnomAD |
|
|
CA295495190 rs917892141 |
666 | Y>C | No |
ClinGen Ensembl |
|
|
CA401700781 rs1489089717 |
667 | Q>K | No |
ClinGen gnomAD |
|
| TCGA novel | 667 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265516642 CA401700740 |
669 | T>I | No |
ClinGen gnomAD |
|
|
rs773597485 CA8872883 |
671 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA8872882 rs546233095 |
671 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA401700710 rs546233095 |
671 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1247386252 CA401700656 |
675 | T>A | No |
ClinGen TOPMed |
|
|
rs768656563 CA8872879 |
676 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1368137878 CA401700492 |
683 | D>E | No |
ClinGen gnomAD |
|
|
CA401700506 rs1485106609 |
683 | D>H | No |
ClinGen TOPMed |
|
|
rs1295378704 CA401700486 |
684 | K>E | No |
ClinGen gnomAD |
|
|
rs770052079 CA8872876 |
684 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA8872877 rs143053596 |
684 | K>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA401700460 rs1159519645 |
685 | I>N | No |
ClinGen gnomAD |
|
|
rs1378918754 CA401700291 |
692 | G>R | No |
ClinGen gnomAD |
|
|
CA401699950 rs778440902 |
696 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1286112038 CA401699904 |
698 | D>G | No |
ClinGen TOPMed |
|
|
CA8872841 rs751919598 |
699 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs763427749 CA8872839 |
702 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1469740897 CA401699749 |
704 | L>V | No |
ClinGen gnomAD |
|
|
CA401699632 rs1317098432 |
709 | K>* | No |
ClinGen TOPMed |
|
|
CA401699540 rs1478494477 |
712 | T>I | No |
ClinGen gnomAD |
|
|
rs1202645231 CA401699514 |
713 | H>Q | No |
ClinGen TOPMed |
|
|
rs759682080 CA401699406 |
718 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA401699379 rs1372076816 |
718 | K>N | No |
ClinGen gnomAD |
|
|
rs759682080 CA8872836 |
718 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8872834 rs776850770 |
719 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200256485 CA8872833 |
721 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401699287 rs1211703067 |
722 | S>F | No |
ClinGen Ensembl |
|
|
CA295494492 rs749448358 |
725 | E>D | No |
ClinGen Ensembl |
|
|
CA401699223 rs1460831101 |
725 | E>K | No |
ClinGen gnomAD |
|
|
rs532315852 CA295494490 |
726 | N>D | No |
ClinGen Ensembl |
|
|
CA401697901 rs1311905186 |
726 | N>S | No |
ClinGen gnomAD |
|
|
CA401697830 rs1335621701 |
728 | Y>C | No |
ClinGen gnomAD |
|
|
CA8872805 rs748871000 |
736 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs745481472 CA401697551 |
739 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778114897 CA8872801 |
739 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs745481472 CA8872802 |
739 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489523860 CA401697487 |
740 | M>T | No |
ClinGen gnomAD |
|
|
CA401697395 rs1354683373 |
743 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8872798 rs755406249 |
745 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1222370431 CA401697309 |
745 | R>H | No |
ClinGen gnomAD |
|
|
rs1598519554 CA401697229 |
749 | H>P | No |
ClinGen Ensembl |
|
|
rs202201518 CA8872795 |
749 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766529385 CA8872796 |
749 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8872794 rs200601566 |
750 | W>G | No |
ClinGen 1000Genomes ExAC |
|
|
CA8872793 rs767620772 |
752 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438614897 CA401697034 |
755 | G>S | No |
ClinGen TOPMed |
|
|
CA8872792 rs761735532 |
756 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA401696973 rs1160257059 |
757 | I>T | No |
ClinGen gnomAD |
|
|
rs768689791 CA8872790 |
757 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1398701660 CA401696875 |
759 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA401696878 rs1398701660 |
759 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8872789 rs371146662 |
760 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 761 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA295494457 rs745533997 |
763 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs745533997 CA8872786 |
763 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1198707133 CA401696718 |
765 | L>P | No |
ClinGen gnomAD |
|
|
CA8872784 rs770482663 |
767 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs748582798 CA8872783 |
767 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs755543043 CA8872781 |
771 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs780297708 CA8872779 |
772 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA8872780 rs749749274 |
772 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA8872778 rs750526323 |
773 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752480318 CA8872753 |
777 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212351572 CA401696211 |
777 | E>K | No |
ClinGen TOPMed |
|
|
rs1212351572 CA401696209 |
777 | E>Q | No |
ClinGen TOPMed |
|
|
rs1306587026 CA401696194 |
778 | V>M | No |
ClinGen gnomAD |
|
|
rs1455087496 CA401696122 |
780 | E>G | No |
ClinGen TOPMed |
|
|
CA8872752 COSM987652 rs765195065 |
781 | K>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8872749 rs776224524 COSM987651 |
787 | K>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs983945192 CA295494312 |
788 | I>V | No |
ClinGen gnomAD |
|
|
CA8872747 rs760392439 |
790 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771851070 CA8872745 |
792 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA8872743 COSM177065 CA401695856 rs775976047 |
795 | K>N | Variant assessed as Somatic; impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8872742 rs770448809 |
796 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1159558794 CA401695835 |
797 | L>V | No |
ClinGen gnomAD |
|
|
rs746339892 CA8872741 |
799 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA295494297 rs568897455 |
801 | S>A | No |
ClinGen gnomAD |
|
|
CA401695763 rs1395080501 |
801 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 802 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401695752 rs1224333549 |
802 | K>R | No |
ClinGen gnomAD |
|
|
rs777924824 CA8872737 |
803 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290776094 CA401695721 |
804 | P>T | No |
ClinGen gnomAD |
|
|
rs1304835295 CA401695642 |
807 | A>T | No |
ClinGen gnomAD |
|
|
CA8872733 rs754916357 |
812 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754916357 CA8872734 |
812 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753664055 CA8872732 |
812 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1255279795 CA401694239 |
815 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 816 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759880645 CA8872705 |
817 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401694208 rs1229886280 |
819 | Y>C | No |
ClinGen gnomAD |
|
|
CA8872704 rs777018648 |
821 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA401694191 rs1396933114 |
822 | V>I | No |
ClinGen gnomAD |
|
|
CA401694181 rs1385396413 |
823 | G>A | No |
ClinGen gnomAD |
|
|
CA401694175 rs1335376654 |
824 | V>A | No |
ClinGen gnomAD |
|
|
CA401694139 rs1417300833 |
829 | I>T | No |
ClinGen TOPMed |
|
|
CA8872700 rs772070625 |
832 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs773309322 CA8872701 |
832 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 833 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA295494016 rs1015958053 |
837 | E>* | No |
ClinGen Ensembl |
|
|
CA401694077 rs1568505282 |
839 | I>L | No |
ClinGen Ensembl |
|
|
CA8872698 rs774623114 |
839 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA295494011 rs767423138 |
840 | Q>E | No |
ClinGen Ensembl |
|
|
CA401694058 rs1181744023 |
841 | E>D | No |
ClinGen gnomAD |
|
|
rs1350416518 CA401694060 |
841 | E>G | No |
ClinGen TOPMed |
|
|
rs768892153 CA8872697 |
842 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA401694053 rs1286929234 |
842 | R>I | No |
ClinGen TOPMed |
|
|
rs1303387232 CA401694045 |
843 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 848 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401694005 rs1467998402 |
849 | S>L | No |
ClinGen TOPMed |
|
|
rs779485666 CA295493818 |
850 | Y>C | No |
ClinGen Ensembl |
|
|
rs752326401 CA8872666 |
851 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8872664 rs756569973 |
855 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA401693946 rs1346809433 |
857 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8872661 rs774449593 |
858 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA401693929 rs1428934560 |
859 | H>R | No |
ClinGen TOPMed |
|
|
CA401693906 rs1232765392 |
862 | P>L | No |
ClinGen TOPMed |
|
|
CA401693909 rs1341269293 |
862 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 863 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 863 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA401693890 rs1398896345 |
865 | S>T | No |
ClinGen gnomAD |
|
|
CA8872658 rs775837826 |
866 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs769901079 CA8872657 |
870 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769901079 CA295493794 |
870 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 871 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8872655 rs776541545 |
872 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs757315664 CA295493783 |
873 | P>A | No |
ClinGen gnomAD |
|
|
CA401693834 rs1568504152 |
873 | P>L | No |
ClinGen Ensembl |
|
|
CA401693836 rs757315664 |
873 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8872652 rs367929381 |
875 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8872650 rs747608990 |
877 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1206096335 CA401693807 |
877 | F>L | No |
ClinGen gnomAD |
|
|
CA401693809 rs1568504082 |
877 | F>Y | No |
ClinGen Ensembl |
|
|
CA8872649 rs778668212 |
879 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1218283444 CA401693788 |
880 | F>S | No |
ClinGen gnomAD |
|
|
rs1474562757 CA401693774 |
882 | Y>D | No |
ClinGen TOPMed |
|
|
rs781500548 CA8872645 |
884 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA8872644 rs757770003 |
885 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA8872642 rs147203309 |
886 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA401693747 rs1470910142 |
886 | P>S | No |
ClinGen gnomAD |
|
|
rs765541465 CA8872639 |
887 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410762000 CA401693744 |
887 | I>V | No |
ClinGen gnomAD |
|
|
rs1475319050 CA401693735 |
888 | P>L | No |
ClinGen gnomAD |
|
|
rs759778588 CA8872638 |
888 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8872635 rs760700353 |
896 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1291536395 CA401693685 |
896 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 897 | S>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q92539
[MIM: 609628]: Majeed syndrome (MJDS)
An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration). {ECO:0000269|PubMed:15994876}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive syndrome characterized by chronic recurrent multifocal osteomyelitis that is of early onset with a lifelong course, congenital dyserythropoietic anemia that presents as hypochromic, microcytic anemia during the first year of life and ranges from mild to transfusion-dependent, and transient inflammatory dermatosis, often manifesting as Sweet syndrome (neutrophilic skin infiltration). {ECO:0000269|PubMed:15994876}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.4 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| phosphatidate phosphatase activity | Catalysis of the reaction: a 1,2-diacylglycerol 3-phosphate + H2O = a 1,2-diacyl-sn-glycerol + phosphate. |
| transcription coactivator activity | A transcription coregulator activity that activates or increases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Coactivators often act by altering chromatin structure and modifications. For example, one class of transcription coactivators modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. A fourth class of coactivator activity is the bridging of a DNA-binding transcription factor to the general (basal) transcription machinery. The Mediator complex, which bridges sequence-specific DNA binding transcription factors and RNA polymerase, is also a transcription coactivator. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular lipid metabolic process | The chemical reactions and pathways involving lipids, as carried out by individual cells. |
| cellular response to insulin stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| fatty acid catabolic process | The chemical reactions and pathways resulting in the breakdown of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. |
| lipid metabolic process | The chemical reactions and pathways involving lipids, compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent. Includes fatty acids; neutral fats, other fatty-acid esters, and soaps; long-chain (fatty) alcohols and waxes; sphingoids and other long-chain bases; glycolipids, phospholipids and sphingolipids; and carotenes, polyprenols, sterols, terpenes and other isoprenoids. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| triglyceride biosynthetic process | The chemical reactions and pathways resulting in the formation of a triglyceride, any triester of glycerol. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q14693 | LPIN1 | Phosphatidate phosphatase LPIN1 | Homo sapiens (Human) | PR |
| Q9BQK8 | LPIN3 | Phosphatidate phosphatase LPIN3 | Homo sapiens (Human) | PR |
| Q91ZP3 | Lpin1 | Phosphatidate phosphatase LPIN1 | Mus musculus (Mouse) | PR |
| Q99PI5 | Lpin2 | Phosphatidate phosphatase LPIN2 | Mus musculus (Mouse) | PR |
| Q9FMN2 | PAH2 | Phosphatidate phosphatase PAH2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNYVGQLAGQ | VIVTVKELYK | GINQATLSGC | IDVIVVQQQD | GSYQCSPFHV | RFGKLGVLRS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KEKVIDIEIN | GSAVDLHMKL | GDNGEAFFVE | ETEEEYEKLP | AYLATSPIPT | EDQFFKDIDT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PLVKSGGDET | PSQSSDISHV | LETETIFTPS | SVKKKKRRRK | KYKQDSKKEE | QAASAAAEDT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CDVGVSSDDD | KGAQAARGSS | NASLKEEECK | EPLLFHSGDH | YPLSDGDWSP | LETTYPQTAC |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PKSDSELEVK | PAESLLRSES | HMEWTWGGFP | ESTKVSKRER | SDHHPRTATI | TPSENTHFRV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IPSEDNLISE | VEKDASMEDT | VCTIVKPKPR | ALGTQMSDPT | SVAELLEPPL | ESTQISSMLD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ADHLPNAALA | EAPSESKPAA | KVDSPSKKKG | VHKRSQHQGP | DDIYLDDLKG | LEPEVAALYF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PKSESEPGSR | QWPESDTLSG | SQSPQSVGSA | AADSGTECLS | DSAMDLPDVT | LSLCGGLSEN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GEISKEKFME | HIITYHEFAE | NPGLIDNPNL | VIRIYNRYYN | WALAAPMILS | LQVFQKSLPK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ATVESWVKDK | MPKKSGRWWF | WRKRESMTKQ | LPESKEGKSE | APPASDLPSS | SKEPAGARPA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ENDSSSDEGS | QELEESITVD | PIPTEPLSHG | STTSYKKSLR | LSSDQIAKLK | LHDGPNDVVF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SITTQYQGTC | RCAGTIYLWN | WNDKIIISDI | DGTITKSDAL | GQILPQLGKD | WTHQGIAKLY |
| 730 | 740 | 750 | 760 | 770 | 780 |
| HSINENGYKF | LYCSARAIGM | ADMTRGYLHW | VNDKGTILPR | GPLMLSPSSL | FSAFHREVIE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KKPEKFKIEC | LNDIKNLFAP | SKQPFYAAFG | NRPNDVYAYT | QVGVPDCRIF | TVNPKGELIQ |
| 850 | 860 | 870 | 880 | 890 | |
| ERTKGNKSSY | HRLSELVEHV | FPLLSKEQNS | AFPCPEFSSF | CYWRDPIPEV | DLDDLS |