O60890
PR
Gene name |
OPHN1 |
Protein name |
Oligophrenin-1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4983 |
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 O60890
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O60890-F1 | Predicted | AlphaFoldDB |
379 variants for O60890
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM1124237 rs1555988278 CA413435174 RCV000623043 |
19 | R>H | Variant assessed as Somatic; impact. endometrium Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000146987 VAR_061184 RCV002312580 rs41303733 RCV000712471 CA172903 |
39 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001290259 rs2078892867 |
39 | V>missing | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002311600 RCV000146988 RCV000224669 RCV002498406 CA172905 rs148262378 VAR_013638 |
45 | A>T | Inborn genetic diseases X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs367993068 RCV001092799 CA330835091 RCV003132223 |
50 | M>V | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs137854493 RCV000012335 CA121587 |
62 | Q>* | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001253493 rs2078108310 |
64 | L>P | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763066236 RCV000500752 CA10437171 |
72 | I>T | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587784234 CA172914 RCV000146993 |
166 | Q>* | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_066746 | 199 | P>PEFSLLMNGLKIFIKCL | MRXSBL [UniProt] | Yes | UniProt |
|
RCV000012337 rs1569244467 |
215 | V>missing | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057518963 CA16043597 RCV000415241 |
249 | L>P | Congenital cerebellar hypoplasia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569243931 RCV000012334 |
251 | K>missing | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000418701 CA172918 RCV000146996 RCV000605251 rs138108344 RCV002312972 VAR_013639 |
301 | T>M | X-linked intellectual disability-cerebellar hypoplasia syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10436964 RCV001731944 RCV000821641 rs770608210 |
380 | M>T | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2077499942 RCV001266605 |
381 | E>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749837689 CA10436960 RCV001252090 |
395 | N>D | Intellectual disability Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1064795031 CA16621469 RCV001788233 RCV000481229 |
409 | R>C | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2077140176 RCV001031016 |
448 | S>F | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000787965 CA413431935 rs1602169116 |
454 | R>K | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569215382 RCV000760476 CA413431626 RCV003147543 |
497 | R>* | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000012333 rs1569211016 |
527 | I>missing | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA207735 rs141368794 RCV000766101 RCV002399715 RCV000193924 |
538 | D>G | Inborn genetic diseases X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003132125 rs773508976 RCV000945922 |
582 | T>missing | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA330807968 rs866834118 RCV001330743 |
630 | P>H | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002251969 RCV000080019 CA172909 RCV000146990 RCV002316238 rs143713841 |
677 | L>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs869312676 RCV000209895 CA353432 |
679 | D>N | Variant assessed as Somatic; impact. X-linked intellectual disability-cerebellar hypoplasia syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1555930474 RCV000622571 CA413430345 |
683 | K>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA201839 RCV000876356 RCV002312717 RCV000176190 RCV002485144 rs139691746 |
686 | P>S | X-linked intellectual disability-cerebellar hypoplasia syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001619831 rs199985543 CA10436795 RCV002318733 |
688 | A>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002312971 VAR_033452 CA172911 rs36095561 RCV000146991 RCV002483285 RCV000514598 |
693 | M>I | X-linked intellectual disability-cerebellar hypoplasia syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2076902830 RCV001290258 |
710 | A>V | X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002420275 RCV001558813 RCV000502895 rs374431961 CA10436774 |
723 | D>G | Inborn genetic diseases X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10436773 RCV000712472 RCV002532931 rs760163301 |
724 | S>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000210665 rs192628082 CA358170 RCV002485370 |
788 | R>Q | X-linked intellectual disability-cerebellar hypoplasia syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000951869 CA10436737 RCV002502479 RCV000438005 RCV002314155 rs148208753 |
788 | R>W | Inborn genetic diseases X-linked intellectual disability-cerebellar hypoplasia syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA413435298 rs1200813419 |
2 | G>R | No |
ClinGen TOPMed |
|
|
RCV000598841 rs1555988317 |
3 | H>missing | No |
ClinVar dbSNP |
|
|
CA413435284 rs1480516013 |
4 | P>A | No |
ClinGen gnomAD |
|
|
rs1271665223 CA413435282 |
4 | P>L | No |
ClinGen gnomAD |
|
|
CA413435250 rs1408579184 |
9 | S>G | No |
ClinGen TOPMed |
|
|
rs1486054742 CA413435237 |
10 | D>E | No |
ClinGen gnomAD |
|
|
rs1207944737 CA413435211 |
14 | D>G | No |
ClinGen gnomAD |
|
|
CA413435191 rs1222994184 |
17 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 18 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490279388 CA413435079 |
32 | T>N | No |
ClinGen gnomAD |
|
|
CA10437191 rs767719249 |
33 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs774236370 CA10437190 |
42 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 43 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 43 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413434962 rs775377990 |
49 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10437188 rs775377990 |
49 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs367993068 CA413434958 |
50 | M>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs374573197 CA10437187 |
51 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1034133483 CA330825366 |
56 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 58 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462220006 CA413432505 |
70 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA221949 RCV000080020 rs398123687 COSM1124233 |
84 | A>T | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 96 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413434835 rs1602295756 |
97 | V>L | No |
ClinGen Ensembl |
|
|
CA413434803 rs1194077568 |
101 | R>K | No |
ClinGen gnomAD |
|
|
rs879220427 CA330824232 |
104 | M>T | No |
ClinGen Ensembl |
|
|
rs377670900 CA10437147 |
106 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413434395 rs1365958838 |
107 | N>S | No |
ClinGen TOPMed |
|
|
CA330823661 rs1016807298 |
113 | I>T | No |
ClinGen TOPMed |
|
|
rs771754685 CA10437146 |
114 | K>R | No |
ClinGen ExAC |
|
|
rs773794311 CA10437144 |
117 | E>K | No |
ClinGen ExAC |
|
|
rs375650816 CA330823660 |
120 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
rs1302379722 CA413434164 |
120 | R>W | No |
ClinGen TOPMed |
|
|
rs746334974 CA10437142 |
123 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10437141 rs781642029 |
125 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1239134423 CA413432366 |
132 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 133 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10437128 rs767091477 |
137 | D>V | No |
ClinGen ExAC TOPMed |
|
|
RCV000153625 rs727504061 CA234471 |
138 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10437127 rs761407540 |
140 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA330820547 rs921019645 |
143 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 147 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 150 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10437125 rs138026999 |
161 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA330818913 rs199810833 |
163 | A>S | No |
ClinGen 1000Genomes |
|
|
RCV000595524 rs1555954685 CA413434745 |
165 | L>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA413434725 rs1462750573 RCV000591808 |
168 | D>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1162179843 CA413434711 |
170 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 176 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413434659 rs1450571836 CA413434660 |
176 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA413434666 rs1195955536 |
176 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 176 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 177 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1247862355 CA413434658 |
177 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs898687129 CA330818911 |
180 | D>N | No |
ClinGen Ensembl |
|
|
rs767305224 CA10437108 |
182 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10437106 rs774039524 |
186 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs369826356 CA10437105 |
188 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10437104 rs762516146 |
191 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA330818909 rs969763753 |
195 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA413434503 rs1442797776 |
199 | P>A | No |
ClinGen gnomAD |
|
|
rs1442797776 CA413434504 |
199 | P>T | No |
ClinGen gnomAD |
|
|
CA413434338 rs1229320601 |
215 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1275286719 CA413434314 |
217 | L>F | No |
ClinGen gnomAD |
|
|
rs377476011 CA330818779 |
219 | Q>R | No |
ClinGen gnomAD |
|
|
rs866641104 CA330818778 |
220 | D>Y | No |
ClinGen Ensembl |
|
|
CA413434245 rs1205917597 |
223 | P>Q | No |
ClinGen gnomAD |
|
|
CA413434212 rs1602238543 |
226 | Q>R | No |
ClinGen Ensembl |
|
|
rs1272418130 CA413434205 |
227 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 227 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 236 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217748735 CA413434038 |
237 | N>D | No |
ClinGen TOPMed |
|
|
rs370987669 CA10437068 |
243 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 248 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs967322537 CA330818631 |
256 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs886044499 RCV000353697 |
258 | Q>missing | No |
ClinVar dbSNP |
|
|
rs201453412 CA10437066 |
259 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753223452 CA10437065 |
262 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs868467767 CA330818630 |
263 | P>S | No |
ClinGen Ensembl |
|
|
rs368229175 CA330818629 |
264 | G>E | No |
ClinGen ESP TOPMed |
|
|
rs1032424043 CA330818628 |
268 | I>T | No |
ClinGen Ensembl |
|
|
rs762363895 CA10437062 |
275 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA330818627 rs12838002 |
276 | E>D | No |
ClinGen Ensembl |
|
|
rs866050049 CA330818340 |
283 | S>F | No |
ClinGen Ensembl |
|
|
CA10437036 rs776722078 |
285 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs771036239 CA10437035 |
287 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1254574532 CA413433650 |
290 | Q>R | No |
ClinGen gnomAD |
|
|
rs773186698 CA10437033 |
296 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 297 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413433563 rs1290762003 |
303 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 304 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2077560487 RCV001092798 |
306 | K>Q | No |
ClinVar dbSNP |
|
|
CA413433531 rs1569242767 RCV000712473 |
307 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 309 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 318 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413433436 rs1407989673 |
319 | K>R | No |
ClinGen gnomAD |
|
|
rs1555952648 RCV000599491 |
321 | C>missing | No |
ClinVar dbSNP |
|
|
rs1404224297 CA413433388 |
326 | T>A | No |
ClinGen gnomAD |
|
|
CA413433383 rs1160403612 |
326 | T>M | No |
ClinGen TOPMed |
|
|
COSM1124228 CA413433360 rs1465380570 |
330 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
RCV001009095 rs1602231165 |
333 | F>missing | No |
ClinVar dbSNP |
|
|
CA413433312 rs1160936926 |
336 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 338 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1450234218 CA413433245 |
343 | P>L | No |
ClinGen TOPMed |
|
|
rs775368827 CA10436988 RCV000731095 |
354 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 356 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs961752058 CA330817654 |
356 | R>K | No |
ClinGen Ensembl |
|
|
rs1188867776 CA413433154 |
357 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 358 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745478793 CA10436986 |
358 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10436987 rs745478793 COSM613636 |
358 | L>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000502703 rs1555952056 CA413433132 |
361 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10436985 rs780864799 |
364 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10436978 rs780360491 |
369 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA413433033 rs1383899887 |
372 | S>R | No |
ClinGen gnomAD |
|
|
CA205678 RCV000192685 rs797045849 |
376 | K>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA10436977 rs756441985 |
376 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1479154085 CA413432950 |
383 | N>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 384 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250966787 CA413432941 |
384 | E>K | No |
ClinGen gnomAD |
|
|
CA10436962 rs772717054 |
385 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179286852 CA413432920 |
387 | F>C | No |
ClinGen TOPMed |
|
|
rs769185816 CA10436961 |
391 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA330817445 rs998600108 |
394 | I>V | No |
ClinGen TOPMed |
|
|
rs150084635 RCV000174733 CA240306 |
395 | N>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA413432845 rs1404555003 |
398 | E>Q | No |
ClinGen TOPMed |
|
|
rs756532108 CA10436959 |
400 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10436943 rs771624663 |
409 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 411 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000429803 CA16608974 rs1057520737 |
416 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 416 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000995935 rs1602225800 |
419 | K>missing | No |
ClinVar dbSNP |
|
|
rs2077495517 RCV001267906 |
422 | N>missing | No |
ClinVar dbSNP |
|
|
rs942810312 CA330817398 |
424 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 425 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 426 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1466013323 CA413432132 |
427 | P>T | No |
ClinGen gnomAD |
|
|
rs1314620558 CA413432108 |
430 | P>S | No |
ClinGen gnomAD |
|
|
CA413432091 rs1479962922 |
432 | D>E | No |
ClinGen TOPMed |
|
|
rs1266556607 CA413432093 |
432 | D>V | No |
ClinGen TOPMed |
|
|
CA10436928 rs760367156 |
433 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs370209377 CA10436926 |
438 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1431665776 CA413432004 |
444 | T>S | No |
ClinGen gnomAD |
|
|
CA330812001 rs983275009 |
446 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 450 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 452 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10436914 rs754900332 COSM1239671 |
461 | M>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs946434604 CA330811580 |
461 | M>V | No |
ClinGen gnomAD |
|
|
rs1298777482 CA413431859 |
463 | Y>C | No |
ClinGen gnomAD |
|
|
CA10436913 rs753866423 |
464 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA10436912 rs151319546 |
465 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 466 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295413743 CA413431828 |
468 | E>Q | No |
ClinGen gnomAD |
|
|
RCV001267905 rs2077112267 |
472 | A>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 474 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10436894 rs768840940 |
477 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA330811488 rs977230508 |
479 | D>N | No |
ClinGen TOPMed |
|
|
CA330811486 rs5918811 |
483 | G>R | No |
ClinGen Ensembl |
|
|
rs920735000 CA330811485 |
484 | A>T | No |
ClinGen gnomAD |
|
|
CA10436893 rs749328005 |
486 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA413431625 rs1297484256 |
497 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1263244907 CA413431608 |
499 | M>I | No |
ClinGen gnomAD |
|
|
rs1460300853 CA413431590 |
502 | L>F | No |
ClinGen gnomAD |
|
|
CA10436889 rs780926761 |
509 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA413431131 rs1469006616 |
512 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 516 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10606598 rs886044308 RCV000338623 |
516 | E>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA413431012 rs1287296404 |
520 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1457340816 CA413431003 |
521 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 522 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413430973 rs1181743475 |
523 | N>K | No |
ClinGen gnomAD |
|
|
CA413430976 rs1305214428 |
523 | N>S | No |
ClinGen TOPMed |
|
|
rs749400002 CA10436875 |
524 | M>K | No |
ClinGen ExAC |
|
|
CA10436876 rs768698142 |
524 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA413430944 rs1258785451 |
526 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 528 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953339084 CA330810416 |
532 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA330810415 rs369473230 |
534 | R>K | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 536 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10436871 rs757099706 |
541 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1236873845 CA413430742 |
542 | A>S | No |
ClinGen gnomAD |
|
|
CA413430688 rs777485718 |
545 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10436869 rs777485718 |
545 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 551 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10436868 rs376148458 |
555 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764608956 CA10436866 |
557 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413430521 rs1293629721 COSM1124221 |
558 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA10436864 rs751031568 |
561 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413431504 rs1263567831 |
566 | G>D | No |
ClinGen TOPMed |
|
|
rs757790995 CA10436843 |
567 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA413431466 rs1191253744 |
572 | A>T | Variant assessed as Somatic; 0.000126 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs984868981 CA330808637 |
573 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10436841 rs764408357 |
574 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950818602 CA330808636 |
574 | P>S | No |
ClinGen TOPMed |
|
|
rs1221737481 CA413431428 |
578 | P>L | No |
ClinGen gnomAD |
|
|
CA10436837 rs776634211 |
580 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs776634211 CA10436838 |
580 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs765440100 CA10436839 |
580 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1057524252 CA16608904 RCV000420052 |
583 | A>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs992365532 CA413431377 |
587 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs992365532 CA330808635 |
587 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10436835 rs770872865 |
590 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144345572 CA10436833 |
594 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs139612280 CA10436832 |
594 | R>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA330808633 rs754769099 |
597 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10436829 RCV000938545 rs189644845 |
600 | T>M | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA413431281 rs1316326744 |
602 | F>L | No |
ClinGen TOPMed |
|
|
rs779671497 CA10436827 RCV000435383 |
605 | S>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs755620198 CA10436826 |
607 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA413431251 rs1602137998 |
608 | D>N | No |
ClinGen Ensembl |
|
|
CA413431235 rs1430158390 |
610 | S>G | No |
ClinGen gnomAD |
|
|
rs778332586 CA10436825 |
611 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA330808632 rs778332586 |
611 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10436817 rs773079148 |
614 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1602131978 CA413431185 |
615 | Q>E | No |
ClinGen Ensembl |
|
|
CA413431165 rs1416422479 |
616 | H>L | No |
ClinGen gnomAD |
|
|
CA10436816 rs767424142 |
616 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175919760 CA413431121 |
619 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1175919760 CA413431124 |
619 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA413431105 rs1438903400 |
620 | N>K | No |
ClinGen TOPMed |
|
|
CA10436815 rs761529691 |
620 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1158998442 CA413431083 |
622 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 624 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10436813 rs375730489 |
624 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450515636 CA413431031 |
626 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 628 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413430985 rs1402310920 |
629 | P>H | No |
ClinGen TOPMed |
|
|
CA10436812 rs760598866 |
629 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA413430979 rs1469556939 |
630 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA413430957 rs1602131861 |
631 | K>M | No |
ClinGen Ensembl |
|
| rs1189332940 | 631 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461563916 CA413430948 |
632 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10436809 rs769248083 |
634 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs794727340 CA413430907 |
635 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs794727340 CA242067 RCV000176191 |
635 | H>N | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA413430902 rs1602131825 |
635 | H>P | No |
ClinGen Ensembl |
|
|
CA413430895 rs1310743410 |
635 | H>Q | No |
ClinGen TOPMed |
|
|
CA10436808 rs745376525 |
638 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA10436807 rs778146150 |
640 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1224895307 CA413430811 |
642 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 642 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758882344 CA413430748 |
646 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs758882344 CA10436806 |
646 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1555930507 RCV000500931 CA413430712 |
649 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1278200946 CA413430716 |
649 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1278200946 CA413430714 COSM3708702 |
649 | G>W | liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs748534360 CA10436805 |
652 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413430654 rs1462768193 |
654 | S>R | No |
ClinGen TOPMed |
|
|
rs1336332293 CA413430605 |
657 | I>V | No |
ClinGen gnomAD |
|
|
CA413430573 rs1196797694 |
659 | D>Y | No |
ClinGen TOPMed |
|
|
rs1391005870 CA413430553 |
660 | G>D | No |
ClinGen gnomAD |
|
|
rs1450703291 CA413430556 |
660 | G>R | No |
ClinGen gnomAD |
|
|
rs1457276416 CA413430500 |
664 | P>S | No |
ClinGen TOPMed |
|
|
CA10436803 rs200183838 |
666 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA330807966 rs928784828 |
666 | P>L | No |
ClinGen TOPMed |
|
|
rs754104441 CA10436802 |
668 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs149759545 CA10436800 |
670 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413430425 rs1174983531 |
671 | G>R | No |
ClinGen TOPMed |
|
|
rs1242244215 CA413430412 |
672 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs139638690 CA330807965 |
673 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA10436799 rs750463187 |
674 | V>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 674 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761774320 CA10436797 |
675 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA330807964 rs1023161053 |
675 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA413430383 rs1282812430 |
678 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1300359418 CA413430371 |
679 | D>E | No |
ClinGen TOPMed |
|
|
CA10436796 rs199985543 |
688 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10436794 rs769419459 |
690 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10436793 rs745381936 RCV000598538 |
692 | P>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs142772349 CA10436792 |
694 | P>R | No |
ClinGen ESP ExAC |
|
| TCGA novel | 694 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10436791 rs748689779 |
695 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA413430255 rs1430143446 |
698 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 700 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343441591 CA413430235 |
701 | T>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 701 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA330807963 rs779366703 |
702 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs779366703 CA10436789 |
702 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA413430227 rs1425210982 |
703 | S>F | No |
ClinGen gnomAD |
|
|
rs1384454480 CA413430217 |
704 | F>L | No |
ClinGen gnomAD |
|
|
rs374050535 CA10436788 |
705 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413430214 rs1269213262 |
705 | H>Y | No |
ClinGen TOPMed |
|
|
CA10436787 rs749646656 |
707 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413430184 rs1185535809 |
709 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 709 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 710 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1030545345 CA330807962 |
711 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA413430174 rs1422309868 |
711 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs200508660 CA10436786 |
712 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413430170 COSM173110 rs1247929748 |
712 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1490646513 CA413430161 |
714 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs367788584 CA10436785 |
715 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413430149 rs1220746365 |
716 | H>Y | No |
ClinGen gnomAD |
|
|
rs1309590503 CA413430136 |
717 | H>Q | No |
ClinGen gnomAD |
|
|
rs1017925742 CA330807961 |
719 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1005219976 CA330807960 |
719 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10436775 rs776116527 |
721 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA330807235 rs746837001 |
726 | S>N | No |
ClinGen 1000Genomes |
|
|
rs1305957266 CA413430058 |
727 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA413430059 rs1305957266 |
727 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10436772 rs774903073 |
729 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1265135988 CA413430045 |
729 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs993015202 CA330807234 |
730 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10436771 rs769095907 |
732 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1428838601 CA413429993 |
737 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749677351 CA10436770 |
738 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10436769 rs780427271 |
739 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA10436768 rs770024232 |
739 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413429973 rs1407870012 |
741 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 741 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413429970 rs1165039406 |
741 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10436765 rs757481934 |
742 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 742 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10436764 rs751624974 |
744 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs777864085 CA413429954 |
744 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs777864085 CA10436763 |
744 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA413429956 rs751624974 |
744 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1251742712 CA413429924 |
749 | C>G | No |
ClinGen gnomAD |
|
|
rs765116282 CA413429916 |
750 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765116282 RCV000992461 CA10436760 |
750 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs371280317 CA10436761 |
750 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759228742 CA10436759 |
751 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753584407 CA10436758 |
752 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 757 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10436755 COSM194573 rs772662176 |
763 | I>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA413429825 rs1489528757 |
764 | V>A | No |
ClinGen TOPMed |
|
|
rs200659608 CA10436754 RCV000610341 |
768 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1451445409 CA413429773 |
772 | T>I | No |
ClinGen gnomAD |
|
|
rs1451445409 CA413429772 |
772 | T>K | No |
ClinGen gnomAD |
|
|
rs1290086485 CA413429760 |
774 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA10436738 rs767063308 |
778 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 779 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413429688 rs1490811466 |
783 | F>L | No |
ClinGen gnomAD |
|
|
CA413429691 rs1377768153 |
783 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 784 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413429673 rs1292294196 |
786 | A>T | No |
ClinGen gnomAD |
|
|
CA413429658 rs1227630759 |
789 | K>Q | No |
ClinGen gnomAD |
|
|
CA330807158 rs910473895 |
790 | T>A | No |
ClinGen Ensembl |
|
|
CA10436735 rs759961141 |
790 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1246654442 CA413429615 |
793 | S>F | No |
ClinGen TOPMed |
|
|
rs779865429 CA10436724 |
795 | G>D | No |
ClinGen ExAC |
|
|
rs1338314674 CA413429566 |
801 | E>* | No |
ClinGen gnomAD |
No associated diseases with O60890
1 regional properties for O60890
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | BCAS3 domain | 572 - 792 | IPR022175 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| dendritic spine | A small, membranous protrusion from a dendrite that forms a postsynaptic compartment, typically receiving input from a single presynapse. They function as partially isolated biochemical and an electrical compartments. Spine morphology is variable:they can be thin, stubby, mushroom, or branched, with a continuum of intermediate morphologies. They typically terminate in a bulb shape, linked to the dendritic shaft by a restriction. Spine remodeling is though to be involved in synaptic plasticity. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| terminal bouton | Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal bouton is a specialized region of it. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| ionotropic glutamate receptor binding | Binding to an ionotropic glutamate receptor. Ionotropic glutamate receptors bind glutamate and exert an effect through the regulation of ion channels. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| cell junction assembly | A cellular process that results in the aggregation, arrangement and bonding together of a set of components to form a cell junction. |
| cell morphogenesis involved in neuron differentiation | The process in which the structures of a neuron are generated and organized. This process occurs while the initially relatively unspecialized cell is acquiring the specialized features of a neuron. |
| cerebellar granule cell differentiation | The process in which neuroblasts acquire specialized structural and/or functional features that characterize the mature cerebellar granule cell. Differentiation includes the processes involved in commitment of a neuroblast to a granule cell fate. A granule cell is a glutamatergic interneuron found in the cerebellar cortex. |
| cerebral cortex neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron residing in the cerebral cortex. |
| establishment of epithelial cell apical/basal polarity | The specification and formation of the apicobasal polarity of an epithelial cell. |
| maintenance of postsynaptic specialization structure | A process which maintains the organization and the arrangement of proteins in the presynaptic specialization. |
| negative regulation of proteasomal protein catabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of proteasomal protein catabolic process. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
| neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a neuron. |
| neuron projection development | The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| regulation of endocytosis | Any process that modulates the frequency, rate or extent of endocytosis. |
| regulation of postsynaptic neurotransmitter receptor internalization | Any process that modulates the frequency, rate or extent of endocytosis of neurotransmitter receptor at the postsynapse. |
| regulation of Rho protein signal transduction | Any process that modulates the frequency, rate or extent of Rho protein signal transduction. |
| regulation of synaptic transmission, glutamatergic | Any process that modulates the frequency, rate or extent of glutamatergic synaptic transmission, the process of communication from a neuron to another neuron across a synapse using the neurotransmitter glutamate. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| substrate-dependent cell migration, cell extension | The formation of a cell surface protrusion, such as a lamellipodium or filopodium, at the leading edge of a migrating cell. |
| synaptic vesicle endocytosis | A vesicle-mediated transport process, in which the synaptic vesicle membrane constituents are retrieved from the presynaptic membrane on the axon terminal after neurotransmitter secretion by exocytosis. Synaptic vesicle endocytosis can occur via clathrin-dependent and clathrin-independent mechanisms. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5ZMW5 | ARHGAP26 | Rho GTPase-activating protein 26 | Gallus gallus (Chicken) | PR |
| Q7YQL6 | OPHN1 | Oligophrenin-1 | Pan troglodytes (Chimpanzee) | PR |
| Q9UNA1 | ARHGAP26 | Rho GTPase-activating protein 26 | Homo sapiens (Human) | PR |
| A6NI28 | ARHGAP42 | Rho GTPase-activating protein 42 | Homo sapiens (Human) | PR |
| B2RQE8 | Arhgap42 | Rho GTPase-activating protein 42 | Mus musculus (Mouse) | PR |
| Q6ZQ82 | Arhgap26 | Rho GTPase-activating protein 26 | Mus musculus (Mouse) | PR |
| Q99J31 | Ophn1 | Oligophrenin-1 | Mus musculus (Mouse) | PR |
| P0CAX5 | Ophn1 | Oligophrenin-1 | Rattus norvegicus (Rat) | PR |
| B5DFQ4 | arhgap26 | Rho GTPase-activating protein 26 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGHPPLEFSD | CYLDSPDFRE | RLKCYEQELE | RTNKFIKDVI | KDGNALISAM | RNYSSAVQKF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SQTLQSFQFD | FIGDTLTDDE | INIAESFKEF | AELLNEVENE | RMMMVHNASD | LLIKPLENFR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KEQIGFTKER | KKKFEKDGER | FYSLLDRHLH | LSSKKKESQL | QEADLQVDKE | RHNFFESSLD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YVYQIQEVQE | SKKFNIVEPV | LAFLHSLFIS | NSLTVELTQD | FLPYKQQLQL | SLQNTRNHFS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| STREEMEELK | KRMKEAPQTC | KLPGQPTIEG | YLYTQEKWAL | GISWVKYYCQ | YEKETKTLTM |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TPMEQKPGAK | QGPLDLTLKY | CVRRKTESID | KRFCFDIETN | ERPGTITLQA | LSEANRRLWM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EAMDGKEPIY | HSPITKQQEM | ELNEVGFKFV | RKCINIIETK | GIKTEGLYRT | VGSNIQVQKL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LNAFFDPKCP | GDVDFHNSDW | DIKTITSSLK | FYLRNLSEPV | MTYRLHKELV | SAAKSDNLDY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RLGAIHSLVY | KLPEKNREML | ELLIRHLVNV | CEHSKENLMT | PSNMGVIFGP | TLMRAQEDTV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AAMMNIKFQN | IVVEILIEHF | GKIYLGPPEE | SAAPPVPPPR | VTARRHKPIT | ISKRLLRERT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VFYTSSLDES | EDEIQHQTPN | GTITSSIEPP | KPPQHPKLPI | QRSGETDPGR | KSPSRPILDG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KLEPCPEVDV | GKLVSRLQDG | GTKITPKATN | GPMPGSGPTK | TPSFHIKRPA | PRPLAHHKEG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DADSFSKVRP | PGEKPTIIRP | PVRPPDPPCR | AATPQKPEPK | PDIVAGNAGE | ITSSVVASRT |
| 790 | 800 | ||||
| RFFETASRKT | GSSQGRLPGD | ES |