Q00839
PR
Gene name |
HNRNPU |
Protein name |
Heterogeneous nuclear ribonucleoprotein U |
Names |
hnRNP U, GRIP120, Nuclear p120 ribonucleoprotein, Scaffold-attachment factor A, SAF-A, p120, pp120 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3192 |
EC number |
|
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 Q00839
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q00839-F1 | Predicted | AlphaFoldDB |
508 variants for Q00839
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1135401794 RCV000496156 |
6 | V>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755839601 CA1486873 RCV002544809 |
21 | K>R | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs869312701 RCV000209838 CA354931 |
23 | R>* | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1486870 RCV002525009 rs200952460 RCV002438240 RCV003222012 |
28 | K>R | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001169993 rs1680938345 |
45 | E>Q | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680008 rs1558190846 |
50 | R>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA345497810 rs943805343 RCV002537457 |
58 | G>S | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002564037 CA345497751 rs1317607352 |
61 | D>G | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553284007 RCV002533161 RCV000627592 |
64 | G>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002537562 RCV002416113 rs754427497 CA1486848 |
69 | R>P | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002538477 rs1680934795 |
71 | G>R | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002561746 CA1486843 rs773969888 |
75 | E>Q | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002533495 CA345497582 rs1245925607 |
79 | A>T | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002534887 rs749084511 |
93 | E>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770670938 RCV002534459 RCV001537560 |
93 | E>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002553924 rs772147656 |
93 | E>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002561803 rs772147656 |
94 | E>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003103975 rs1680930913 |
101 | G>D | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1680930955 RCV002541914 |
101 | G>R | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16610079 RCV002525546 rs1553283951 |
103 | Q>* | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002543161 CA1486822 rs369111527 |
106 | L>P | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002568557 rs1680929668 |
116 | A>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001824767 CA16603678 rs1057524584 RCV000424048 |
118 | S>* | Developmental and epileptic encephalopathy, 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002544615 rs1455165658 CA345497301 |
120 | P>R | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002563681 rs1388856266 CA345497299 |
121 | M>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002346236 rs1680928684 RCV001034468 |
125 | E>A | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002533627 rs747108904 |
125 | E>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000515617 RCV000544136 RCV001662523 rs747108904 |
125 | E>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1486814 RCV002363473 RCV000954016 rs199765762 |
125 | E>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000515626 rs776690627 CA1486809 |
127 | A>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1414347355 CA345497220 RCV002543184 |
132 | N>D | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000585859 rs1553283916 |
134 | D>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1573337948 CA345497170 RCV000986583 |
139 | Q>* | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1325726632 RCV002293490 RCV002535989 RCV002332723 CA345497157 |
140 | E>D | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA1486799 rs539279281 RCV002538001 CA345497097 |
147 | D>E | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs781659437 CA1486800 RCV002532340 |
147 | D>N | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs781659437 CA345497103 RCV002318810 |
147 | D>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1680926034 RCV002562579 |
152 | A>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002539092 rs369208639 CA1486794 RCV003169170 |
153 | G>D | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002547386 rs1680925916 |
153 | G>R | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001199195 rs776778115 |
155 | E>D | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1195258707 RCV001198003 |
157 | G>E | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1680925526 RCV002543511 |
157 | G>R | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553283899 RCV000515619 CA345496906 |
161 | Q>* | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002551378 rs139561508 CA345496791 |
169 | Q>H | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA16609280 RCV000445561 rs1057524915 |
171 | Q>* | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078622 | 171 | Q>del | DEE54 [UniProt] | Yes | UniProt |
|
RCV002532246 CA345496744 rs1393651101 CA345496745 |
172 | Q>H | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002272203 RCV000351851 CA10602784 rs886041983 |
174 | Q>* | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002269329 CA345496665 RCV002552439 rs1345467904 |
178 | G>A | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001333299 rs1680922737 |
181 | K>E | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747403316 RCV002348440 CA345496632 RCV002554431 |
181 | K>R | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1486779 RCV001333300 rs780326561 |
185 | G>R | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002537376 rs1573337696 CA345496579 |
185 | G>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1333692140 RCV001254081 |
192 | S>* | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1680920689 RCV002554597 |
199 | A>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1553283831 RCV000505258 |
200 | P>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002538439 CA40505032 rs985639804 |
201 | P>S | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003103900 rs769942155 CA1486768 |
203 | A>E | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201849132 RCV002563177 CA40505011 |
204 | R>T | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002529971 rs1553283825 CA345496333 |
205 | Q>R | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003106203 rs759528610 |
207 | Q>H | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001261515 RCV001217213 rs1573337552 |
208 | Q>* | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002495107 CA345496287 rs1573337552 |
208 | Q>E | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573337510 RCV002534753 |
215 | K>A | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750936227 RCV002546173 |
215 | K>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779453109 RCV000496191 RCV001551156 RCV001169868 |
218 | G>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002533750 rs757585114 RCV001558451 |
221 | G>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001585711 RCV002535892 rs755670533 RCV002536962 |
227 | A>V | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002544991 rs752642837 |
228 | P>R | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002568631 rs1680869300 |
252 | D>Y | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs373483406 RCV002553128 CA40504138 |
273 | Q>K | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002480265 RCV000412787 rs747301226 |
279 | E>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1486677 RCV002529970 rs538951206 COSM425815 |
279 | E>D | Developmental and epileptic encephalopathy, 54 breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002563659 rs1168497628 |
280 | D>G | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA1486669 RCV001534908 RCV002525545 rs141449330 |
292 | T>I | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000624862 CA345493954 rs1553283037 |
324 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs747886979 CA1486606 RCV002545069 |
333 | K>T | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs772372487 RCV002533236 CA1486604 |
334 | V>L | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001260725 rs1680794191 |
339 | K>T | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253124 rs1680764764 |
355 | D>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542335 RCV000515618 RCV002431474 CA1486578 rs200962317 |
361 | I>V | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001266228 rs1680764227 |
362 | G>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1680764134 RCV001266229 |
363 | W>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA345493078 RCV002316121 rs1135401732 CA345493079 |
363 | W>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1475265666 RCV002563661 CA345493004 |
369 | G>A | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553282754 RCV002533238 |
380 | G>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745485838 CA1486547 RCV000515634 |
386 | I>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200174361 CA1486544 RCV003103963 |
390 | N>T | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA40500830 RCV002542209 rs777962801 |
395 | D>H | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1553282732 CA345492206 RCV002529974 |
396 | Y>H | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002339695 rs1680748404 RCV001254983 |
397 | G>R | Intellectual disability Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1558187847 RCV002539457 |
401 | D>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002540861 RCV001692322 rs767181341 CA1486540 |
403 | N>T | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA40500819 rs936983140 RCV002551502 |
405 | V>A | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002548444 rs773409645 CA1486538 |
406 | I>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1026590819 RCV002562521 CA40500588 |
415 | D>G | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001249272 CA1486498 RCV000992168 rs778010676 COSM1209873 |
420 | S>L | Developmental and epileptic encephalopathy, 54 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA1486493 RCV002496813 RCV002318551 rs760669739 |
423 | K>R | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002536246 RCV001333298 CA1486490 rs199596170 |
425 | G>A | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1680730995 RCV002561841 |
428 | L>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000473783 CA1486486 RCV001295836 RCV002525544 rs772732188 |
430 | V>I | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000763847 CA1486480 RCV002379432 rs373039242 |
440 | A>D | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA345491886 rs1240447811 RCV002547416 |
442 | R>W | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1558187433 RCV000767987 CA345491789 |
456 | E>D | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1573331728 CA345491734 RCV002536965 |
464 | K>R | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs370427995 RCV002545598 CA1486464 |
469 | I>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001329907 rs771909772 |
474 | T>N | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA40500430 rs569338651 RCV003104033 |
475 | F>C | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002393100 rs199740131 CA1486457 RCV001692128 RCV002526402 |
487 | G>A | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1233558404 CA345491359 RCV002529972 |
493 | E>K | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002563835 rs1680725785 |
498 | E>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1680716669 RCV001267167 |
501 | M>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1680716624 RCV002552514 |
502 | M>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000623746 rs1553282570 CA345491009 |
506 | P>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA1486426 rs757616624 RCV002546077 |
515 | T>A | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA345490665 rs1573331208 RCV002535893 |
531 | N>S | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000552363 RCV000515624 rs1553282397 CA345490040 |
548 | D>N | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001254678 rs1680691597 |
555 | L>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000986582 rs1573330458 |
561 | Q>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000680009 RCV000496151 rs1135401733 CA345489783 |
572 | R>* | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000445555 rs1057524916 |
605 | V>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002543098 rs1680685512 |
609 | K>E | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002412051 CA1486373 RCV001329454 rs761602649 |
609 | K>R | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA1486330 RCV002420725 RCV002529973 rs202115297 |
651 | E>A | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1261806485 CA345488501 RCV002563150 |
652 | I>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002551345 RCV002416330 rs937095421 CA40499439 |
670 | K>R | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000623960 rs1553282235 |
696 | G>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1680668703 RCV002539503 |
704 | G>D | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1680667014 RCV003103950 |
723 | A>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1680658254 RCV002561832 |
723 | A>V | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA345487145 RCV000624368 rs764205447 |
733 | R>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs144984907 RCV002547524 |
743 | G>S | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002543085 rs1278935326 |
746 | S>missing | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002431475 RCV000540809 rs1360721056 RCV001839010 |
750 | G>S | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs934976347 RCV002547137 |
755 | R>C | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001260726 rs1680653195 |
763 | G>* | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227748 RCV000624065 rs878855133 |
767 | N>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs794729648 RCV000185558 RCV002247599 |
769 | G>missing | Developmental and epileptic encephalopathy, 54 Intellectual disability and seizures [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002442730 RCV002534862 CA1486263 rs377250459 |
781 | N>D | Developmental and epileptic encephalopathy, 54 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002552442 CA1486261 rs372614557 |
784 | Q>E | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000515632 RCV000555674 CA345486658 rs1553282000 |
803 | N>S | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078623 | 805 | W>del | DEE54; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV001248820 rs542905297 RCV002568692 |
822 | Q>* | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000480911 rs1064796325 RCV002526654 CA16617124 |
822 | Q>H | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16609279 rs1057524914 RCV000445557 |
824 | Y>* | Developmental and epileptic encephalopathy, 54 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA40505389 rs1014509764 |
2 | S>N | No |
ClinGen Ensembl |
|
|
CA1486879 rs771628842 |
3 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA345498536 rs1322316080 |
4 | S>W | No |
ClinGen gnomAD |
|
|
rs1558190933 RCV000761713 |
6 | V>missing | No |
ClinVar dbSNP |
|
|
CA1486876 rs770805349 |
6 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA345498492 rs1573338581 |
11 | L>V | No |
ClinGen Ensembl |
|
|
rs1373869869 CA345498484 |
12 | K>R | No |
ClinGen TOPMed |
|
|
CA40505372 rs558342880 |
17 | K>T | No |
ClinGen Ensembl |
|
|
CA345498430 rs1232667140 |
19 | E>Q | No |
ClinGen TOPMed |
|
|
CA1486874 rs777663267 |
21 | K>* | No |
ClinGen ExAC gnomAD |
|
|
RCV001008985 rs1573338529 |
26 | S>missing | No |
ClinVar dbSNP |
|
|
rs1260819558 CA345498166 |
35 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs765869965 CA1486868 |
37 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA345498046 RCV000658556 rs1553284037 |
42 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1358372912 CA345497982 |
46 | E>D | No |
ClinGen Ensembl |
|
|
CA1486864 rs763955551 |
47 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345497968 rs1339167570 |
47 | A>V | No |
ClinGen gnomAD |
|
|
rs199973300 CA1486861 |
49 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775281977 CA1486862 |
49 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1486859 rs773808446 |
50 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000799202 rs1573338421 CA345497931 |
50 | R>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs943157985 CA40505305 |
51 | P>S | No |
ClinGen gnomAD |
|
|
rs976496273 CA40505299 |
53 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs770396451 CA1486858 |
53 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201749229 CA345497843 |
56 | G>R | No |
ClinGen gnomAD |
|
|
rs1680936726 RCV001091233 |
57 | N>missing | No |
ClinVar dbSNP |
|
|
rs943805343 CA40505294 |
58 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1486853 rs780434344 |
60 | L>R | No |
ClinGen ExAC |
|
|
CA1486852 rs758647161 |
61 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs750566995 CA1486851 |
62 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1486849 rs757262771 |
64 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444413380 CA345497696 |
65 | D>N | No |
ClinGen gnomAD |
|
|
CA345497675 rs1355156088 |
66 | S>A | No |
ClinGen gnomAD |
|
|
CA345497673 rs1163062953 |
66 | S>F | No |
ClinGen gnomAD |
|
|
CA345497654 rs1383375662 |
67 | A>V | No |
ClinGen gnomAD |
|
|
CA1486845 rs753009600 |
73 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA1486842 rs773969888 |
75 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345497603 rs1221183673 |
76 | Q>E | No |
ClinGen gnomAD |
|
|
rs1558190755 CA345497588 |
78 | A>T | No |
ClinGen Ensembl |
|
|
CA345497583 rs1489983826 |
78 | A>V | No |
ClinGen gnomAD |
|
|
rs1225658657 CA345497574 |
80 | A>D | No |
ClinGen gnomAD |
|
|
CA1486840 rs762361480 |
80 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs773204178 CA1486839 |
81 | G>S | No |
ClinGen ExAC |
|
|
CA345497562 rs1302622066 |
82 | G>D | No |
ClinGen gnomAD |
|
|
rs1363572292 CA345497554 |
83 | D>E | No |
ClinGen gnomAD |
|
|
rs1403182602 CA345497560 |
83 | D>N | No |
ClinGen gnomAD |
|
|
rs1403182602 CA345497558 |
83 | D>Y | No |
ClinGen gnomAD |
|
|
CA1486838 rs769557448 |
84 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1553283982 RCV000598756 |
85 | E>missing | No |
ClinVar dbSNP |
|
|
CA345497518 rs1362989304 |
88 | E>* | No |
ClinGen gnomAD |
|
|
CA1486834 rs776529551 |
90 | E>D | No |
ClinGen ExAC TOPMed |
|
|
rs770670938 RCV000936277 |
93 | E>missing | No |
ClinVar dbSNP |
|
|
CA345497457 rs1573338147 |
96 | I>N | No |
ClinGen Ensembl |
|
|
CA1486828 rs768543741 |
96 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA345497451 rs1166782086 |
97 | S>A | No |
ClinGen Ensembl |
|
|
CA345497448 rs1479183749 |
97 | S>C | No |
ClinGen gnomAD |
|
|
CA345497450 rs1479183749 |
97 | S>F | No |
ClinGen gnomAD |
|
|
CA345497432 rs1273753748 |
100 | D>A | No |
ClinGen TOPMed |
|
|
CA345497430 rs1308031438 |
100 | D>E | No |
ClinGen TOPMed |
|
|
rs1485854484 CA345497410 |
103 | Q>L | No |
ClinGen gnomAD |
|
|
rs1206468968 COSM1748275 COSM1748276 CA345497401 |
104 | M>I | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA345497403 rs1259318393 |
104 | M>K | No |
ClinGen gnomAD |
|
|
CA1486824 rs749262345 |
105 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1553283946 RCV000523788 |
106 | L>missing | No |
ClinVar dbSNP |
|
|
CA345497357 rs1573338062 |
111 | G>R | No |
ClinGen Ensembl |
|
|
rs1166595391 CA345497351 |
112 | A>T | No |
ClinGen gnomAD |
|
|
rs1347499063 CA345497345 |
113 | A>T | No |
ClinGen gnomAD |
|
|
CA345497319 rs755321884 |
117 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA1486819 rs755321884 |
117 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1486820 rs767918101 |
117 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs554568535 CA1486818 |
118 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1259140963 CA345497286 |
122 | E>G | No |
ClinGen TOPMed |
|
|
CA1486816 rs762536063 |
123 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1473996679 CA345497274 |
124 | E>Q | No |
ClinGen TOPMed |
|
|
CA1486813 rs752671029 |
125 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354383547 CA345497258 |
126 | A>V | No |
ClinGen TOPMed |
|
|
rs1435707336 CA345497240 |
129 | E>G | No |
ClinGen TOPMed |
|
|
rs768631349 CA1486808 |
130 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA345497236 rs1428436177 |
130 | D>N | No |
ClinGen gnomAD |
|
|
rs1465646444 CA345497227 |
131 | E>K | No |
ClinGen gnomAD |
|
|
rs1465646444 CA345497228 |
131 | E>Q | No |
ClinGen gnomAD |
|
|
rs1489255367 CA345497217 |
132 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771002033 CA1486805 |
137 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs749416136 CA1486804 |
139 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
RCV001091232 rs1680927279 |
140 | E>K | No |
ClinVar dbSNP |
|
|
CA1486801 rs748710323 |
145 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1335894744 CA345497109 |
146 | G>A | No |
ClinGen gnomAD |
|
|
rs980758296 CA40505154 |
146 | G>R | No |
ClinGen Ensembl |
|
|
CA40505134 rs375569535 |
149 | E>G | No |
ClinGen ESP TOPMed |
|
|
rs1025480447 CA40505131 |
150 | E>Q | No |
ClinGen Ensembl |
|
|
CA1486797 rs570495195 |
151 | G>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs570495195 CA1486798 |
151 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA345496951 rs1195258707 |
157 | G>V | No |
ClinGen gnomAD |
|
|
CA345496947 rs1390072483 |
158 | H>R | No |
ClinGen TOPMed |
|
|
CA345496933 rs1455054980 |
159 | G>R | No |
ClinGen TOPMed |
|
|
rs1322682341 CA345496927 |
160 | E>K | No |
ClinGen gnomAD |
|
|
RCV000639401 rs1553283895 |
162 | Q>missing | No |
ClinVar dbSNP |
|
|
rs764056171 CA1486791 |
163 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA345496828 rs1342853101 |
166 | P>L | No |
ClinGen gnomAD |
|
|
rs775100241 CA1486789 |
167 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771867326 CA1486788 |
168 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA345496775 rs1390271761 |
170 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1347086702 CA345496749 |
172 | Q>R | No |
ClinGen TOPMed |
|
|
rs1169988683 CA345496734 |
173 | P>R | No |
ClinGen gnomAD |
|
|
rs1217302813 CA345496739 |
173 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA345496723 RCV000626974 rs1553283861 |
174 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769831589 CA1486785 |
175 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs769831589 CA345496715 |
175 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1234854769 CA345496689 |
176 | Q>R | No |
ClinGen TOPMed |
|
|
rs748156139 CA1486783 |
177 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs781670944 CA1486782 |
177 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA345496670 rs1436340983 |
178 | G>R | No |
ClinGen gnomAD |
|
|
CA40505070 rs527410720 |
179 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs747403316 CA1486780 |
181 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573337693 CA345496571 |
186 | K>E | No |
ClinGen Ensembl |
|
|
CA1486778 rs372513810 |
186 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1404441784 CA345496555 |
187 | S>G | No |
ClinGen gnomAD |
|
|
CA1486776 rs368440067 |
189 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000478096 rs1064794823 |
191 | T>missing | No |
ClinVar dbSNP |
|
|
rs1333692140 CA345496483 |
192 | S>W | No |
ClinGen gnomAD |
|
|
rs764150176 CA1486773 CA1486774 |
194 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1301875866 CA345496469 |
194 | F>L | No |
ClinGen gnomAD |
|
|
rs760732624 CA1486772 |
195 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752655580 CA1486771 |
197 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs767273173 CA1486770 |
201 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA345496382 rs985639804 |
201 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA345496359 rs773306715 |
203 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773306715 CA249113 RCV000202916 |
203 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs201849132 CA345496350 |
204 | R>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1221660331 CA345496329 |
205 | Q>H | No |
ClinGen TOPMed |
|
|
rs776650301 CA1486766 |
206 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1486767 rs761900611 |
206 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280870146 CA345496267 |
209 | Q>R | No |
ClinGen gnomAD |
|
|
RCV000433810 rs1057520065 |
210 | A>missing | No |
ClinVar dbSNP |
|
|
rs1399331272 CA345496243 |
212 | G>R | No |
ClinGen gnomAD |
|
|
CA345496244 rs1399331272 |
212 | G>S | No |
ClinGen gnomAD |
|
|
rs1553283807 RCV000503196 |
222 | G>S | No |
ClinVar dbSNP |
|
|
CA345495506 rs1573335913 |
232 | D>G | No |
ClinGen Ensembl |
|
|
CA1486713 rs771487560 |
233 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1486712 rs749597192 |
234 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1014292464 CA40504236 |
239 | G>S | No |
ClinGen gnomAD |
|
|
CA345495451 rs1558189636 |
240 | G>A | No |
ClinGen Ensembl |
|
|
CA1486709 rs769435589 |
241 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1424023807 CA345495449 |
241 | D>N | No |
ClinGen gnomAD |
|
|
CA1486707 rs780791316 |
247 | K>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000523913 rs1553283444 |
248 | R>missing | No |
ClinVar dbSNP |
|
|
rs754421991 CA1486706 |
249 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs35162703 CA40504233 |
253 | H>P | No |
ClinGen Ensembl |
|
|
CA1486705 rs747009116 |
257 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA40504232 rs77953953 |
259 | E>* | No |
ClinGen Ensembl |
|
|
rs1378829669 CA345495315 |
260 | Y>F | No |
ClinGen gnomAD |
|
|
rs1266491720 CA345495311 |
261 | I>V | No |
ClinGen gnomAD |
|
|
CA1486704 rs779965460 |
264 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA345495147 rs373483406 |
273 | Q>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA345495095 rs1168497628 |
280 | D>A | No |
ClinGen TOPMed |
|
|
CA345495094 rs1354008522 |
280 | D>E | No |
ClinGen TOPMed |
|
|
CA345495100 rs1428488192 |
280 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA40504105 rs568342018 |
282 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs200804217 CA40504089 |
283 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs763591389 CA1486671 |
285 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1486670 rs750940733 |
287 | V>M | No |
ClinGen ExAC gnomAD |
|
|
RCV000706605 rs1558189489 CA345495033 |
289 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1486619 rs779497819 |
294 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs903627298 CA40503239 |
298 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1486617 rs537378297 |
299 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764494988 CA1486616 |
302 | S>A | No |
ClinGen ExAC gnomAD |
|
|
RCV001500647 CA345494396 rs1573333876 |
303 | R>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA1486615 rs756460435 |
305 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1447036653 CA345494329 |
306 | L>F | No |
ClinGen TOPMed |
|
|
CA345494278 rs1284056440 |
309 | S>C | No |
ClinGen gnomAD |
|
|
rs1310936232 CA345494267 |
310 | S>P | No |
ClinGen TOPMed |
|
|
CA1486609 rs762846113 |
325 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs375383329 CA1486607 |
331 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747886979 CA345493726 |
333 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1486605 rs772372487 |
334 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345493670 rs1180764471 |
336 | F>L | No |
ClinGen TOPMed |
|
|
CA1486583 rs768541250 |
340 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs759730699 CA1486582 |
341 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA345493394 rs774623389 |
344 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345493408 rs1377845040 |
344 | I>V | No |
ClinGen TOPMed |
|
|
CA345493376 rs1298865067 |
345 | P>L | No |
ClinGen gnomAD |
|
|
CA345493126 rs1448881929 |
360 | R>C | No |
ClinGen gnomAD |
|
|
CA345493081 rs1135401732 RCV000496124 |
363 | W>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA1486576 rs748618289 |
364 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA345493063 rs1170963464 |
365 | L>I | No |
ClinGen gnomAD |
|
|
CA1486574 rs755356064 |
367 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA345493032 rs1239640794 |
367 | T>I | No |
ClinGen gnomAD |
|
|
rs554184378 CA40500847 |
376 | E>G | No |
ClinGen 1000Genomes |
|
|
rs779598258 CA1486549 |
383 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA345492276 rs1474532936 |
385 | G>E | No |
ClinGen TOPMed |
|
|
CA1486545 rs756818672 |
389 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs906134616 CA345492250 |
389 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA345492247 rs1363920060 |
390 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1486543 rs200174361 |
390 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1413762264 CA345492229 |
392 | E>D | No |
ClinGen TOPMed |
|
|
rs371598663 CA40500834 |
394 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs752493999 CA1486541 |
397 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs887981092 CA40500823 |
400 | F>L | No |
ClinGen TOPMed |
|
|
rs1210623482 CA345492165 |
401 | D>E | No |
ClinGen gnomAD |
|
|
rs1048141141 CA40500821 |
402 | E>A | No |
ClinGen TOPMed |
|
|
CA1486537 rs765368510 |
409 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs368630299 CA1486504 |
412 | F>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1290271612 CA345492071 |
413 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1486503 rs777389841 |
413 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs375691155 CA1486502 |
414 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748182347 CA1486501 |
414 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA345492022 rs778010676 |
420 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331227775 CA345492017 |
421 | Y>C | No |
ClinGen gnomAD |
|
|
CA345492020 rs1558187526 |
421 | Y>H | No |
ClinGen Ensembl |
|
|
CA1486494 rs764293520 |
422 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1486492 rs753256595 |
424 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1486489 rs774893991 |
427 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1486487 rs762720157 |
429 | G>S | No |
ClinGen ExAC gnomAD |
|
|
RCV001050542 CA1486485 rs769350097 |
431 | A>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA1486483 rs370977392 |
433 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373039242 CA1486481 |
440 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1486482 rs768539882 |
440 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1486479 rs377613329 |
441 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1001439129 CA40500491 |
442 | R>Q | No |
ClinGen TOPMed |
|
|
CA345491882 rs1265931188 |
443 | P>A | No |
ClinGen TOPMed |
|
|
CA345491865 rs1322060208 |
445 | F>L | No |
ClinGen gnomAD |
|
|
rs1558187454 CA345491859 |
446 | P>L | No |
ClinGen Ensembl |
|
|
rs752096616 CA1486472 |
453 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1410314713 CA345491798 |
455 | V>A | No |
ClinGen gnomAD |
|
|
CA1486470 rs763159303 |
458 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA40500464 rs373873509 |
459 | F>Y | No |
ClinGen Ensembl |
|
|
CA345491762 rs1376854423 |
460 | G>D | No |
ClinGen gnomAD |
|
|
CA40500461 rs76246128 |
461 | Q>K | No |
ClinGen Ensembl |
|
|
rs905563416 CA40500458 |
462 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs772930528 CA1486469 |
463 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA1486468 rs375317302 |
465 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345491728 rs1207759104 |
465 | P>S | No |
ClinGen gnomAD |
|
|
rs776160388 CA1486466 |
466 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1236981258 CA345491696 |
470 | P>S | No |
ClinGen gnomAD |
|
|
CA1486463 rs775402274 |
471 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1157355348 COSM906735 CA345491679 |
472 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1433234888 CA345491672 |
473 | Y>F | No |
ClinGen gnomAD |
|
|
CA345491668 rs1411567111 |
474 | T>A | No |
ClinGen TOPMed |
|
|
CA1486462 rs771909772 |
474 | T>I | No |
ClinGen ExAC gnomAD |
|
|
RCV001269842 rs1680727391 |
477 | Q>* | No |
ClinVar dbSNP |
|
|
CA345491612 rs778730784 |
478 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745596089 CA1486461 |
478 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA345491601 rs1292923449 |
479 | V>I | No |
ClinGen TOPMed |
|
|
rs1171471843 RCV000639392 RCV001550923 CA345491576 |
480 | P>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA40500396 rs930828143 |
481 | L>I | No |
ClinGen TOPMed |
|
|
CA40500393 rs772368551 |
482 | E>D | No |
ClinGen Ensembl |
|
|
RCV000627344 rs1553282635 CA345491516 |
484 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1243273458 CA345491447 |
489 | K>E | No |
ClinGen gnomAD |
|
|
rs1233558404 CA345491365 |
493 | E>Q | No |
ClinGen TOPMed |
|
|
rs1274587234 CA345491313 |
496 | D>G | No |
ClinGen TOPMed |
|
|
CA1486428 rs750921542 |
501 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1064797011 RCV000482404 |
507 | G>missing | No |
ClinVar dbSNP |
|
|
CA1486427 rs765578788 |
508 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA345490880 rs1411908199 |
515 | T>S | No |
ClinGen gnomAD |
|
|
rs930633910 CA40500153 |
519 | A>T | No |
ClinGen TOPMed |
|
|
CA1486425 rs369125683 |
520 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333832447 CA345490803 |
521 | N>H | No |
ClinGen gnomAD |
|
|
CA40500150 rs958138336 |
523 | G>E | No |
ClinGen Ensembl |
|
|
CA345490762 rs1157910201 |
524 | K>R | No |
ClinGen TOPMed |
|
|
CA40500143 rs926664734 |
534 | M>K | No |
ClinGen Ensembl |
|
|
CA345490443 rs1482863373 |
541 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
RCV000627274 CA345489923 rs1553282390 |
557 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1553282385 CA345489896 RCV000523247 |
561 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA345489857 rs1441243802 |
566 | F>L | No |
ClinGen gnomAD |
|
|
CA345489781 COSM1209875 rs1286615445 |
572 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1680690257 RCV001212687 |
580 | D>N | No |
ClinVar dbSNP |
|
|
rs1553282372 RCV000656291 CA345489668 |
581 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1301596168 CA345489610 |
582 | T>I | No |
ClinGen gnomAD |
|
|
rs1211358352 CA345489572 |
586 | A>P | No |
ClinGen gnomAD |
|
|
rs1211358352 CA345489574 |
586 | A>T | No |
ClinGen gnomAD |
|
|
CA345489569 rs1312886014 |
586 | A>V | No |
ClinGen TOPMed |
|
|
CA345489549 rs1558186635 |
588 | A>D | No |
ClinGen Ensembl |
|
|
CA345489531 rs1228992930 |
590 | R>K | No |
ClinGen TOPMed |
|
|
rs1249226089 CA345489436 |
596 | F>C | No |
ClinGen gnomAD |
|
|
rs1229213808 CA345489391 |
598 | G>D | No |
ClinGen gnomAD |
|
|
CA1486374 rs143798359 |
604 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA40499728 rs11537736 |
605 | V>A | No |
ClinGen Ensembl |
|
|
CA345489244 rs1413406143 |
605 | V>I | No |
ClinGen gnomAD |
|
|
rs1313822619 CA345489154 |
609 | K>N | No |
ClinGen gnomAD |
|
|
rs1443713599 CA345489097 |
612 | D>A | No |
ClinGen TOPMed |
|
|
CA345489042 rs1573330191 |
615 | Q>E | No |
ClinGen Ensembl |
|
|
rs1680684866 RCV001091230 |
618 | Q>* | No |
ClinVar dbSNP |
|
|
rs1300093915 CA345488956 |
619 | K>R | No |
ClinGen gnomAD |
|
|
rs1462741233 CA345488922 |
621 | A>V | No |
ClinGen gnomAD |
|
|
RCV000522989 rs1553282322 |
622 | E>missing | No |
ClinVar dbSNP |
|
|
rs759569722 CA1486370 |
623 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759569722 CA345488904 |
623 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868735439 CA40499697 |
632 | A>V | No |
ClinGen gnomAD |
|
|
rs111577008 CA40499690 |
633 | V>A | No |
ClinGen Ensembl |
|
|
rs111577008 CA40499692 |
633 | V>D | No |
ClinGen Ensembl |
|
|
rs1404578965 CA345488742 |
636 | M>I | No |
ClinGen TOPMed |
|
|
rs745323844 CA1486334 |
641 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA1486333 rs745323844 |
641 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA40499473 rs1046709142 |
642 | L>F | No |
ClinGen TOPMed |
|
|
rs1013755447 CA40499465 |
645 | V>I | No |
ClinGen TOPMed |
|
|
CA40499452 rs895356669 |
648 | C>W | No |
ClinGen TOPMed |
|
|
CA345488482 rs1206290880 |
653 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1486329 rs777685675 |
664 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA345488262 rs1286306820 |
671 | E>K | No |
ClinGen gnomAD |
|
|
rs1321497165 CA345488251 |
672 | E>K | No |
ClinGen gnomAD |
|
|
CA345488232 rs1311079592 |
673 | S>N | No |
ClinGen gnomAD |
|
|
CA345488226 rs1230506469 |
673 | S>R | No |
ClinGen gnomAD |
|
|
CA1486325 rs763049117 |
675 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA345488195 rs1171532101 |
676 | A>T | No |
ClinGen gnomAD |
|
|
rs554662754 CA1486324 |
676 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs910476955 CA40499429 |
681 | K>R | No |
ClinGen Ensembl |
|
|
rs762438339 CA1486322 |
687 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1195025938 CA345488032 |
690 | S>G | No |
ClinGen gnomAD |
|
|
CA1486321 rs776998972 |
690 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769069918 CA1486320 |
691 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213499345 CA345487986 |
693 | N>S | No |
ClinGen gnomAD |
|
|
RCV001446925 rs544008777 CA1486319 |
695 | S>G | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA345487944 rs1162778999 |
696 | G>S | No |
ClinGen TOPMed |
|
|
rs369389024 CA1486318 |
698 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA345487859 rs1213086367 |
701 | N>K | No |
ClinGen gnomAD |
|
|
CA1486316 rs745487292 |
709 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA40499390 rs1052660 VAR_014712 |
712 | F>L | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs778537286 CA1486315 |
713 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs200887441 CA1486314 |
713 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA345487609 rs1416358602 |
714 | M>I | No |
ClinGen gnomAD |
|
|
rs1362626839 CA345487632 |
714 | M>V | No |
ClinGen gnomAD |
|
|
rs1359576211 CA345487596 |
715 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA345487457 rs1475137624 |
722 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM679590 CA345487310 rs746093508 |
724 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1486286 rs746093508 |
724 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778945228 CA1486285 |
727 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278135318 COSM1209869 CA345487252 |
727 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1157326482 CA345487215 |
729 | G>A | No |
ClinGen gnomAD |
|
|
CA345487224 rs1345142654 |
729 | G>R | No |
ClinGen gnomAD |
|
|
rs756736844 CA1486281 |
734 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA345487143 rs1415120016 |
734 | G>S | No |
ClinGen TOPMed |
|
|
rs1452812618 CA345487129 |
735 | N>D | No |
ClinGen gnomAD |
|
|
CA345487122 rs1254900423 |
735 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1365301564 CA345487104 |
736 | M>I | No |
ClinGen TOPMed |
|
|
CA345487111 rs1191866183 |
736 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1486280 rs753245353 |
737 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1486279 rs768065562 |
738 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1680654226 RCV001091229 |
756 | A>P | No |
ClinVar dbSNP |
|
|
RCV000496120 RCV000598970 rs1135401734 |
757 | P>missing | No |
ClinVar dbSNP |
|
|
rs768453396 RCV003222138 RCV000810343 |
762 | R>H | No |
ClinVar dbSNP |
|
|
RCV000522673 rs1553282089 |
774 | G>missing | No |
ClinVar dbSNP |
|
|
rs1257366051 CA345486847 |
776 | M>I | No |
ClinGen gnomAD |
|
|
rs749506211 CA1486266 |
777 | P>L | No |
ClinGen ExAC |
|
|
CA345486831 rs1233591468 |
779 | R>K | No |
ClinGen gnomAD |
|
|
COSM397639 rs1454535474 CA345486818 |
781 | N>T | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs925350951 CA40499043 |
783 | N>Y | No |
ClinGen TOPMed |
|
|
rs1004562963 CA40498776 |
788 | G>R | No |
ClinGen TOPMed |
|
|
CA1486248 rs749543331 |
789 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1486246 rs770010858 |
792 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA1486244 rs781386773 |
792 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs748194079 CA1486245 |
792 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950452902 CA40498752 |
794 | G>V | No |
ClinGen TOPMed |
|
|
CA1486243 rs755483933 |
797 | N>Y | No |
ClinGen ExAC |
|
|
CA1486241 rs780347245 COSM906719 |
799 | S>F | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1486240 rs758721153 |
800 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA40498729 rs556510132 |
801 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA40498725 rs556510132 |
801 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA345486649 rs1369918155 |
804 | Q>L | No |
ClinGen gnomAD |
|
|
CA345486627 rs1188019820 |
807 | Q>* | No |
ClinGen gnomAD |
|
|
rs1418108453 CA345486618 |
808 | G>D | No |
ClinGen gnomAD |
|
|
rs1348970825 CA345486286 |
813 | Q>R | No |
ClinGen gnomAD |
|
|
CA40498443 rs542905297 |
822 | Q>E | No |
ClinGen 1000Genomes |
1 associated diseases with Q00839
[MIM: 617391]: Developmental and epileptic encephalopathy 54 (DEE54)
A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:25356899}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. {ECO:0000269|PubMed:23708187, ECO:0000269|PubMed:25356899}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
23 GO annotations of cellular component
| Name | Definition |
|---|---|
| catalytic step 2 spliceosome | A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| CRD-mediated mRNA stability complex | A protein complex that binds to, and promotes stabilization of, mRNA molecules containing the coding region instability determinant (CRD). In human, it may consist of IGF2BP1, HNRNPU, SYNCRIP/HNRNPQ, YBX1, and DHX9. |
| cytoplasmic ribonucleoprotein granule | A ribonucleoprotein granule located in the cytoplasm. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite cytoplasm | All of the contents of a dendrite, excluding the surrounding plasma membrane. |
| inactive sex chromosome | A sex chromosome that has been inactivated. |
| kinetochore | A multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| midbody | A thin cytoplasmic bridge formed between daughter cells at the end of cytokinesis. The midbody forms where the contractile ring constricts, and may persist for some time before finally breaking to complete cytokinesis. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
| mitotic spindle microtubule | Any microtubule that is part of a mitotic spindle; anchored at one spindle pole. |
| mitotic spindle midzone | The area in the center of the anaphase spindle consisting of microtubules, microtubule bundling factors and kinesin motors where the spindle microtubules from opposite poles overlap in an antiparallel manner. |
| nuclear chromosome | A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| ribonucleoprotein complex | A macromolecular complex that contains both RNA and protein molecules. |
| spindle pole | Either of the ends of a spindle, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
| telomerase holoenzyme complex | Telomerase is a ribonucleoprotein enzyme complex, with a minimal catalytic core composed of a catalytic reverse transcriptase subunit and an RNA subunit that provides the template for telomeric DNA addition. In vivo, the holoenzyme complex often contains additional subunits. |
28 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| chromatin binding | Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| chromatin DNA binding | Binding to DNA that is assembled into chromatin. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| double-stranded DNA binding | Binding to double-stranded DNA. |
| double-stranded RNA binding | Binding to double-stranded RNA. |
| identical protein binding | Binding to an identical protein or proteins. |
| lncRNA binding | Binding to a long noncoding RNA (lncRNA). |
| mRNA 3'-UTR binding | Binding to a 3' untranslated region of an mRNA molecule. |
| poly(A) binding | Binding to a sequence of adenylyl residues in an RNA molecule, such as the poly(A) tail, a sequence of adenylyl residues at the 3' end of eukaryotic mRNA. |
| poly(C) RNA binding | Binding to a sequence of cytosine residues in an RNA molecule. |
| poly(G) binding | Binding to a sequence of guanine residues in an RNA molecule. |
| pre-mRNA binding | Binding to a pre-messenger RNA (pre-mRNA), an intermediate molecule between DNA and protein that may contain introns and, at least in part, encodes one or more proteins. Introns are removed from pre-mRNA to form a mRNA molecule. |
| promoter-specific chromatin binding | Binding to a section of chromatin that is associated with gene promoter sequences of DNA. |
| protein-containing complex binding | Binding to a macromolecular complex. |
| ribonucleoprotein complex binding | Binding to a complex of RNA and protein. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA polymerase II C-terminal domain binding | Binding to the C-terminal domain (CTD) of the largest subunit of RNA polymerase II. The CTD is comprised of repeats of a heptapeptide with the consensus sequence YSPTSPS. The number of repeats varies with the species and a minimum number of repeats is required for RNAP II function. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
| RNA polymerase II complex binding | Binding to an RNA polymerase II core enzyme, a multisubunit eukaryotic nuclear RNA polymerase typically composed of twelve subunits. |
| sequence-specific double-stranded DNA binding | Binding to double-stranded DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA, e.g. promotor binding or rDNA binding. |
| single-stranded DNA binding | Binding to single-stranded DNA. |
| single-stranded RNA binding | Binding to single-stranded RNA. |
| snRNA binding | Binding to a small nuclear RNA (snRNA). |
| telomerase RNA binding | Binding to the telomerase RNA template. |
| TFIIH-class transcription factor complex binding | Binding to a general RNA polymerase II transcription factor belonging to the TFIIH complex, one of the factors involved in formation of the preinitiation complex (PIC) by RNA polymerase II. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases 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. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors 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. |
33 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive thermogenesis | The regulated production of heat in response to short term environmental changes, such as stress, diet or reduced temperature. |
| cardiac muscle cell development | The process whose specific outcome is the progression of a cardiac muscle cell over time, from its formation to the mature state. |
| cell cycle | The progression of biochemical and morphological phases and events that occur in a cell during successive cell replication or nuclear replication events. Canonically, the cell cycle comprises the replication and segregation of genetic material followed by the division of the cell, but in endocycles or syncytial cells nuclear replication or nuclear division may not be followed by cell division. |
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| cellular response to glucocorticoid 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 a glucocorticoid stimulus. Glucocorticoids are hormonal C21 corticosteroids synthesized from cholesterol with the ability to bind with the cortisol receptor and trigger similar effects. Glucocorticoids act primarily on carbohydrate and protein metabolism, and have anti-inflammatory effects. |
| cellular response to leukemia inhibitory factor | 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 a leukemia inhibitory factor stimulus. |
| circadian regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression such that an expression pattern recurs with a regularity of approximately 24 hours. |
| CRD-mediated mRNA stabilization | An mRNA stabilization process in which one or more RNA-binding proteins associate with a sequence in the open reading frame called the coding region instability determinant (CRD). |
| dendritic transport of messenger ribonucleoprotein complex | The directed movement of a messenger ribonucleoprotein complex along microtubules in nerve cell dendrites. |
| dosage compensation by inactivation of X chromosome | Compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex. |
| maintenance of protein location in nucleus | Any process in which a protein is maintained in the nucleus and prevented from moving elsewhere. These include sequestration within the nucleus, protein stabilization to prevent transport elsewhere and the active retrieval of proteins that escape the nucleus. |
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| mRNA stabilization | Prevention of degradation of mRNA molecules. In the absence of compensating changes in other processes, the slowing of mRNA degradation can result in an overall increase in the population of active mRNA molecules. |
| negative regulation of kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of kinase activity, the catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule. |
| negative regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay | Any process that stops, prevents or reduces the frequency, rate or extent of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay. |
| negative regulation of stem cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of stem cell differentiation. |
| negative regulation of telomere maintenance via telomerase | Any process that stops, prevents, or reduces the frequency, rate or extent of the addition of telomeric repeats by telomerase. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| negative regulation of transcription elongation by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides, catalyzed by RNA polymerase II. |
| osteoblast differentiation | The process whereby a relatively unspecialized cell acquires the specialized features of an osteoblast, a mesodermal or neural crest cell that gives rise to bone. |
| positive regulation of attachment of mitotic spindle microtubules to kinetochore | Any process that activates or increases the frequency, rate or extent of attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation. |
| positive regulation of brown fat cell differentiation | Any process that increases the rate, frequency, or extent of brown fat cell differentiation. Brown fat cell differentiation is the process in which a relatively unspecialized cell acquires specialized features of a brown adipocyte, an animal connective tissue cell involved in adaptive thermogenesis. Brown adipocytes contain multiple small droplets of triglycerides and a high number of mitochondria. |
| positive regulation of cytoplasmic translation | Any process that activates or increases the frequency, rate or extent of cytoplasmic translation. |
| positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity | Any process that activates or increases the frequency, rate or extent of DNA topoisomerase (ATP-hydrolyzing) activity. |
| positive regulation of stem cell proliferation | Any process that activates or increases the frequency, rate or extent of stem cell proliferation. |
| 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. |
| protein localization to spindle microtubule | A process in which a protein is transported to, or maintained in, a location within a spindle microtubule. |
| regulation of alternative mRNA splicing, via spliceosome | Any process that modulates the frequency, rate or extent of alternative splicing of nuclear mRNAs. |
| regulation of chromatin organization | Any process that modulates the frequency, rate or extent of chromatin organization. |
| regulation of mitotic cell cycle | Any process that modulates the rate or extent of progress through the mitotic cell cycle. |
| regulation of mitotic spindle assembly | Any process that modulates the frequency, rate or extent of mitotic spindle assembly. |
| RNA localization to chromatin | A process in which RNA is transported to and maintained in a part of a chromosome that is organized into chromatin. |
| RNA processing | Any process involved in the conversion of one or more primary RNA transcripts into one or more mature RNA molecules. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSSPVNVKK | LKVSELKEEL | KKRRLSDKGL | KAELMERLQA | ALDDEEAGGR | PAMEPGNGSL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DLGGDSAGRS | GAGLEQEAAA | GGDEEEEEEE | EEEEGISALD | GDQMELGEEN | GAAGAADSGP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MEEEEAASED | ENGDDQGFQE | GEDELGDEEE | GAGDENGHGE | QQPQPPATQQ | QQPQQQRGAA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KEAAGKSSGP | TSLFAVTVAP | PGARQGQQQA | GGKKKAEGGG | GGGRPGAPAA | GDGKTEQKGG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DKKRGVKRPR | EDHGRGYFEY | IEENKYSRAK | SPQPPVEEED | EHFDDTVVCL | DTYNCDLHFK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ISRDRLSASS | LTMESFAFLW | AGGRASYGVS | KGKVCFEMKV | TEKIPVRHLY | TKDIDIHEVR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IGWSLTTSGM | LLGEEEFSYG | YSLKGIKTCN | CETEDYGEKF | DENDVITCFA | NFESDEVELS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YAKNGQDLGV | AFKISKEVLA | GRPLFPHVLC | HNCAVEFNFG | QKEKPYFPIP | EEYTFIQNVP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LEDRVRGPKG | PEEKKDCEVV | MMIGLPGAGK | TTWVTKHAAE | NPGKYNILGT | NTIMDKMMVA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GFKKQMADTG | KLNTLLQRAP | QCLGKFIEIA | ARKKRNFILD | QTNVSAAAQR | RKMCLFAGFQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RKAVVVCPKD | EDYKQRTQKK | AEVEGKDLPE | HAVLKMKGNF | TLPEVAECFD | EITYVELQKE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EAQKLLEQYK | EESKKALPPE | KKQNTGSKKS | NKNKSGKNQF | NRGGGHRGRG | GFNMRGGNFR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GGAPGNRGGY | NRRGNMPQRG | GGGGGSGGIG | YPYPRAPVFP | GRGSYSNRGN | YNRGGMPNRG |
| 790 | 800 | 810 | 820 | ||
| NYNQNFRGRG | NNRGYKNQSQ | GYNQWQQGQF | WGQKPWSQHY | HQGYY |