Q99961
Gene name |
SH3GL1 (CNSA1, SH3D2B) |
Protein name |
Endophilin-A2 |
Names |
EEN fusion partner of MLL, Endophilin-2, Extra eleven-nineteen leukemia fusion gene protein, EEN, SH3 domain protein 2B, SH3 domain-containing GRB2-like protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6455 |
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 Q99961
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q99961-F1 | Predicted | AlphaFoldDB |
305 variants for Q99961
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs1301689585 CA403419434 |
2 | S>L | No |
ClinGen gnomAD |
|
rs749962293 CA9096936 |
4 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403419323 rs1330530963 |
9 | Q>K | No |
ClinGen gnomAD |
|
CA403419315 rs1446899294 |
9 | Q>R | No |
ClinGen gnomAD |
|
rs761916678 CA9096906 |
22 | G>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 26 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA403445842 rs1250745138 |
28 | K>Q | No |
ClinGen TOPMed |
|
CA403445810 rs1168675200 |
31 | D>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA403445776 rs1180167866 |
34 | K>R | No |
ClinGen TOPMed |
|
CA304493114 rs543260079 |
35 | E>K | No |
ClinGen Ensembl |
|
CA403445756 rs1264123023 |
36 | M>R | No |
ClinGen gnomAD |
|
CA403445753 rs1264123023 |
36 | M>T | No |
ClinGen gnomAD |
|
rs373539047 CA9096900 |
38 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
rs369623466 CA9096899 |
38 | K>M | No |
ClinGen ESP ExAC gnomAD |
|
CA403445586 rs1599594691 |
40 | V>G | No |
ClinGen Ensembl |
|
rs1446140246 CA403445554 |
42 | V>A | No |
ClinGen gnomAD |
|
rs746817206 CA9096873 |
43 | T>I | No |
ClinGen ExAC gnomAD |
|
CA403445524 rs1412963539 |
44 | S>N | No |
ClinGen gnomAD |
|
rs566081903 CA9096871 |
45 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs754044096 COSM1471019 CA9096870 |
46 | A>V | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1176624802 CA403445497 |
47 | V>M | No |
ClinGen gnomAD |
|
TCGA novel | 48 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9096867 rs752782203 |
48 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768141573 CA9096866 |
49 | E>D | No |
ClinGen ExAC gnomAD |
|
CA403445466 rs1200195091 |
49 | E>G | No |
ClinGen gnomAD |
|
CA304492661 rs968920723 |
53 | R>K | No |
ClinGen gnomAD |
|
rs1308367942 COSM1393315 CA403445380 |
54 | T>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs770599947 CA304492658 |
56 | E>A | No |
ClinGen Ensembl |
|
CA304492646 rs1036023718 |
56 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs1311520364 CA403445363 |
56 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA403445344 rs1340124740 |
57 | Y>D | No |
ClinGen gnomAD |
|
CA9096861 rs772764780 |
62 | P>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 63 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA304491621 COSM3938161 rs751683510 |
64 | S>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA9096827 rs755132916 COSM1225570 |
65 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA9096828 rs781544249 |
65 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403445157 rs1462517450 |
66 | A>T | No |
ClinGen gnomAD |
|
TCGA novel | 70 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs142802456 CA304491597 |
71 | L>F | No |
ClinGen 1000Genomes TOPMed |
|
rs1478389740 CA403444615 |
72 | N>S | No |
ClinGen gnomAD |
|
CA9096822 rs765697108 |
77 | I>F | No |
ClinGen ExAC gnomAD |
|
rs757527993 CA9096821 |
78 | R>W | No |
ClinGen ExAC gnomAD |
|
rs763685197 CA9096820 |
79 | G>R | No |
ClinGen ExAC gnomAD |
|
CA9096819 rs763685197 |
79 | G>S | No |
ClinGen ExAC gnomAD |
|
CA304491564 rs1021477685 |
79 | G>V | No |
ClinGen Ensembl |
|
TCGA novel | 82 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA403444514 rs1599593481 |
83 | N>T | No |
ClinGen Ensembl |
|
rs767369209 CA9096816 |
85 | G>D | No |
ClinGen ExAC gnomAD |
|
CA403444497 rs1161084715 |
85 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs1568408748 CA403444486 |
86 | Y>C | No |
ClinGen Ensembl |
|
CA9096814 rs774126153 |
87 | P>L | No |
ClinGen ExAC gnomAD |
|
rs759585653 CA9096815 |
87 | P>T | No |
ClinGen ExAC gnomAD |
|
CA9096810 rs768936054 |
89 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9096811 rs768936054 |
89 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA403444455 rs1397490750 |
90 | E>D | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 91 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA403444428 rs1568408718 |
94 | G>S | No |
ClinGen Ensembl |
|
rs1599593390 CA403444410 |
96 | C>G | No |
ClinGen Ensembl |
|
CA9096806 rs746424143 |
96 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs555932362 CA9096805 |
97 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9096804 rs757637498 |
98 | I>L | No |
ClinGen ExAC gnomAD |
|
rs868490265 CA304491430 |
99 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs754159467 CA9096803 |
99 | R>H | No |
ClinGen ExAC gnomAD |
|
CA403444361 rs1385225579 |
101 | G>R | No |
ClinGen TOPMed |
|
CA403444318 rs1212303058 |
105 | G>D | No |
ClinGen TOPMed |
|
CA403444323 rs1284562000 |
105 | G>R | No |
ClinGen TOPMed |
|
CA403444322 rs1284562000 |
105 | G>S | No |
ClinGen TOPMed |
|
rs767094867 CA9096799 |
106 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9096800 rs539292999 |
106 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1311329938 CA403444298 |
107 | E>D | No |
ClinGen gnomAD |
|
rs751539443 CA9096797 |
107 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762848850 CA9096795 |
109 | N>H | No |
ClinGen ExAC gnomAD |
|
CA403444277 rs773086879 |
109 | N>K | No |
ClinGen ExAC gnomAD |
|
CA9096757 rs757946404 |
111 | G>D | No |
ClinGen ExAC gnomAD |
|
CA9096754 rs757104640 |
113 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1340290246 CA403444163 |
115 | L>M | No |
ClinGen gnomAD |
|
CA9096752 rs767791927 |
116 | D>H | No |
ClinGen ExAC gnomAD |
|
CA9096750 rs774551415 |
118 | G>S | No |
ClinGen ExAC gnomAD |
|
rs766494956 CA9096749 |
119 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403444131 rs1458433234 |
119 | E>K | No |
ClinGen gnomAD |
|
CA403444121 rs1599591156 |
120 | S>A | No |
ClinGen Ensembl |
|
rs1599591145 CA403444116 |
121 | M>L | No |
ClinGen Ensembl |
|
rs762971820 CA9096748 |
123 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA9096746 rs373084701 |
123 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373084701 CA9096747 |
123 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9096744 rs776921353 |
125 | A>P | No |
ClinGen ExAC gnomAD |
|
rs1430268439 CA403444081 |
126 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs1599591099 CA403444075 |
127 | V>G | No |
ClinGen Ensembl |
|
CA9096743 rs769063861 |
127 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1317750728 CA403444035 |
133 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA9096736 rs757086845 |
137 | Q>* | No |
ClinGen ExAC |
|
rs763862391 CA9096735 |
138 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA304489827 rs1006681022 |
140 | I>L | No |
ClinGen TOPMed |
|
rs1334979888 CA403443896 |
142 | P>L | No |
ClinGen TOPMed |
|
rs568609310 CA9096732 |
142 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs568609310 CA403443905 |
142 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1568407569 CA403443878 |
144 | Q>* | No |
ClinGen Ensembl |
|
CA304489807 rs924000086 |
145 | N>K | No |
ClinGen Ensembl |
|
CA304489806 rs147973938 |
146 | L>V | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
CA9096729 rs201291309 |
149 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA9096727 rs762290109 |
152 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA304489405 rs756926556 |
158 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 159 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs761323864 CA9096687 |
165 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 165 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA403443511 rs1276295040 |
167 | D>G | No |
ClinGen TOPMed gnomAD |
|
rs1337813631 CA403443502 |
168 | F>L | No |
ClinGen TOPMed |
|
CA403443498 rs1429911431 |
168 | F>S | No |
ClinGen gnomAD |
|
rs1416036644 CA403443490 |
169 | D>N | No |
ClinGen TOPMed |
|
rs768035055 CA9096685 |
173 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs759957726 CA9096684 |
174 | R>W | No |
ClinGen ExAC gnomAD |
|
CA403443402 rs1354356133 |
176 | G>D | No |
ClinGen TOPMed |
|
rs773905674 CA9096683 |
176 | G>R | No |
ClinGen ExAC gnomAD |
|
CA304489340 rs946880277 |
178 | I>T | No |
ClinGen Ensembl |
|
rs748121251 CA403443357 |
180 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9096678 rs748121251 |
180 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403443318 rs1219488096 |
182 | E>D | No |
ClinGen gnomAD |
|
CA403443314 rs1284446529 |
183 | L>I | No |
ClinGen TOPMed |
|
rs768457754 CA9096676 COSM328588 |
184 | R>C | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs746783898 CA9096675 |
184 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs148839471 CA304489312 |
185 | Q>R | No |
ClinGen ESP |
|
rs1255884313 CA403443278 |
186 | A>V | No |
ClinGen gnomAD |
|
rs1599590378 CA403443275 |
187 | L>V | No |
ClinGen Ensembl |
|
rs371164108 CA9096670 |
191 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 192 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA304489234 rs1036950635 |
194 | K>Q | No |
ClinGen TOPMed |
|
rs1410827972 | 195 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
rs1397621147 CA403443157 |
195 | E>D | No |
ClinGen gnomAD |
|
CA9096667 rs755398525 |
195 | E>V | No |
ClinGen ExAC gnomAD |
|
rs751893479 CA9096666 |
196 | V>M | No |
ClinGen ExAC gnomAD |
|
CA403443144 rs1422280121 |
197 | A>T | No |
ClinGen gnomAD |
|
CA9096665 rs766638498 |
198 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA403443117 rs1312949827 |
199 | T>A | No |
ClinGen TOPMed |
|
rs891160431 CA304489227 |
200 | S>G | No |
ClinGen Ensembl |
|
CA9096662 rs764774164 |
204 | L>F | No |
ClinGen ExAC gnomAD |
|
CA9096660 rs573662769 |
205 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA403443016 rs1203564816 |
206 | E>D | No |
ClinGen gnomAD |
|
CA9096626 rs147741212 |
209 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs760083112 CA9096622 |
210 | E>D | No |
ClinGen ExAC gnomAD |
|
rs763635891 CA9096623 |
210 | E>K | Variant assessed as Somatic; 4.764e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1455356862 CA403442506 |
212 | V>G | No |
ClinGen TOPMed gnomAD |
|
CA403442493 rs1348366689 |
214 | Q>* | No |
ClinGen gnomAD |
|
CA403442484 rs1164476544 |
214 | Q>H | No |
ClinGen gnomAD |
|
CA403442480 rs1474793700 |
215 | L>F | No |
ClinGen gnomAD |
|
CA9096621 rs202142863 |
216 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs759387629 CA9096619 |
217 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403442463 rs759387629 |
217 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 218 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 220 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4127686 CA403442433 rs1212657460 |
221 | A>T | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs768801940 CA9096614 |
223 | L>M | No |
ClinGen ExAC gnomAD |
|
COSM3362898 rs780611547 CA9096612 |
225 | Y>C | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA403442374 rs567748801 |
227 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9096610 rs746365536 |
227 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs567748801 CA9096611 |
227 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1385789450 CA403442367 |
228 | Q>P | No |
ClinGen gnomAD |
|
CA403442361 rs1368861714 |
229 | A>T | No |
ClinGen gnomAD |
|
rs779319587 CA9096609 |
229 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs369234045 CA9096607 |
230 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1444109066 CA403442321 |
233 | L>P | No |
ClinGen gnomAD |
|
rs1331772123 CA403442313 |
234 | D>G | No |
ClinGen TOPMed |
|
rs1460227872 CA403442310 |
235 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA9096603 rs571418230 |
237 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9096604 rs571418230 |
237 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 238 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9096601 rs751509720 |
238 | E>G | No |
ClinGen ExAC gnomAD |
|
rs766323957 CA9096600 |
239 | K>T | No |
ClinGen ExAC gnomAD |
|
CA403442262 rs1254426126 |
240 | L>F | No |
ClinGen gnomAD |
|
CA9096598 rs373002537 |
241 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9096597 rs139264612 |
242 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9096596 rs760818851 |
242 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs945286931 CA304486384 |
243 | R>G | No |
ClinGen Ensembl |
|
rs1353313484 CA403442054 |
244 | M>I | No |
ClinGen gnomAD |
|
CA9096554 rs751582205 |
244 | M>V | No |
ClinGen ExAC |
|
rs773744604 CA9096551 |
245 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9096552 rs773744604 |
245 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs150815092 CA9096553 |
245 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1345880991 CA403442031 |
246 | E>A | No |
ClinGen gnomAD |
|
rs1360789872 CA403442027 |
246 | E>D | No |
ClinGen gnomAD |
|
rs1315643275 CA403441997 |
248 | S>F | No |
ClinGen gnomAD |
|
CA9096549 rs142350724 |
250 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA403441976 rs1160920956 |
250 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA9096548 rs376342224 |
252 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs988999691 CA304485839 |
252 | K>N | No |
ClinGen Ensembl |
|
rs200759611 CA304485846 |
252 | K>T | No |
ClinGen Ensembl |
|
rs551005842 CA9096545 |
253 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746644425 CA9096546 |
253 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM997578 CA9096542 rs778864341 |
254 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA9096543 rs778864341 |
254 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA16040523 rs916514568 |
255 | Y>C | No |
ClinGen TOPMed |
|
rs781408393 CA403441925 |
257 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9096539 rs781408393 |
257 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781408393 CA403441926 |
257 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA9096536 rs547151618 |
258 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA304485809 rs527380978 |
260 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9096534 rs527380978 |
260 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9096535 rs763039641 |
260 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs984408261 CA304485792 |
261 | E>K | No |
ClinGen TOPMed |
|
rs1322181805 CA403441817 |
265 | L>F | No |
ClinGen gnomAD |
|
CA9096529 rs543281961 |
266 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs769134396 CA9096530 |
266 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1407364241 CA403441776 |
268 | P>A | No |
ClinGen gnomAD |
|
rs1407364241 CA403441775 |
268 | P>S | No |
ClinGen gnomAD |
|
CA9096526 rs771734638 |
270 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA403441746 rs1475809671 |
270 | Q>R | No |
ClinGen gnomAD |
|
COSM3797184 CA9096524 rs778720794 |
271 | S>F | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
rs745345897 CA9096525 |
271 | S>P | No |
ClinGen ExAC gnomAD |
|
CA403441709 rs749170520 CA9096522 |
273 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA403441679 rs1488634454 |
275 | F>L | No |
ClinGen TOPMed |
|
CA403441662 rs1216188881 |
276 | P>L | No |
ClinGen TOPMed |
|
CA9096519 COSM997577 rs369351554 |
277 | C>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA9096517 rs574382792 |
278 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 278 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9096516 rs750455250 |
279 | T>I | No |
ClinGen ExAC gnomAD |
|
rs376186521 CA304485736 |
280 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
CA9096515 rs563998650 |
280 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 282 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 282 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA9096513 rs754369352 |
282 | K>R | No |
ClinGen ExAC gnomAD |
|
CA403441589 rs200662405 |
283 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138726702 CA9096511 |
284 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1183101564 CA403441437 |
286 | S>L | No |
ClinGen gnomAD |
|
CA9096478 rs141729110 |
287 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA403441426 rs1208945799 |
288 | S>F | No |
ClinGen TOPMed gnomAD |
|
CA403441417 rs138775819 |
289 | F>L | No |
ClinGen ESP TOPMed gnomAD |
|
rs749316862 CA403441414 COSM79283 |
290 | R>* | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA304485490 rs997768573 |
290 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA304485494 rs997768573 |
290 | R>P | No |
ClinGen TOPMed gnomAD |
|
rs997768573 CA304485497 |
290 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1315426627 CA403441409 |
291 | S>F | No |
ClinGen gnomAD |
|
rs778439340 CA9096475 |
292 | S>C | No |
ClinGen ExAC gnomAD |
|
CA403441397 rs1392496454 |
293 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA9096472 rs201029225 |
293 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201029225 CA9096471 |
293 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 295 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1460667094 CA403441386 |
295 | P>S | No |
ClinGen gnomAD |
|
rs765879947 CA9096468 |
296 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs146037902 CA9096469 |
296 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs199700932 CA9096466 |
297 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149527990 CA9096467 |
297 | R>W | Variant assessed as Somatic; 4.811e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1599587521 CA403441374 |
298 | T>P | No |
ClinGen Ensembl |
|
rs1213529120 CA403441366 |
299 | P>H | No |
ClinGen TOPMed gnomAD |
|
CA403441364 rs1213529120 |
299 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA9096463 rs776408094 |
299 | P>S | No |
ClinGen ExAC gnomAD |
|
rs768521985 CA9096462 |
300 | S>N | No |
ClinGen ExAC gnomAD |
|
CA9096458 rs539311717 |
301 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
COSM1393313 rs150284370 CA9096459 |
301 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1298448974 CA403441350 |
302 | S>I | No |
ClinGen gnomAD |
|
rs778065764 CA9096457 |
302 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA304485457 rs1023462737 |
303 | M>I | No |
ClinGen TOPMed gnomAD |
|
CA304485460 rs968698207 |
303 | M>T | No |
ClinGen TOPMed gnomAD |
|
rs976125279 | 304 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA9096417 rs747516715 |
304 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1195155 CA9096456 rs201867179 |
304 | P>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA403441273 rs1330040236 |
305 | P>H | No |
ClinGen gnomAD |
|
CA9096416 rs775925269 |
305 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746167461 CA9096414 |
306 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1283524258 CA403441241 |
307 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs778554390 CA9096413 |
307 | D>H | No |
ClinGen ExAC gnomAD |
|
rs1448198829 COSM1717084 CA403441215 |
309 | P>S | NS [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1315834293 CA403441189 |
310 | S>N | No |
ClinGen gnomAD |
|
rs1433948538 CA403441183 |
310 | S>R | No |
ClinGen gnomAD |
|
CA304485163 rs894677569 |
312 | K>E | No |
ClinGen TOPMed |
|
rs755630348 CA9096409 |
315 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs767494738 CA9096407 |
316 | D>N | No |
ClinGen ExAC gnomAD |
|
CA304485151 rs928883482 |
318 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs138715687 CA403441045 |
318 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138715687 CA9096405 |
318 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9096402 rs146842065 |
320 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1599586395 CA403440956 |
322 | D>G | No |
ClinGen Ensembl |
|
CA9096400 rs377322414 |
322 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA9096396 rs771296697 |
323 | G>E | No |
ClinGen ExAC gnomAD |
|
CA9096398 rs200448085 CA9096397 |
323 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA9096395 rs771296697 |
323 | G>V | No |
ClinGen ExAC gnomAD |
|
rs201385705 CA9096393 |
327 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA403440829 rs1324569950 |
328 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA403440834 rs1349626134 |
328 | H>Y | No |
ClinGen gnomAD |
|
CA9096390 rs747601449 |
331 | D>N | No |
ClinGen ExAC gnomAD |
|
rs755032679 CA9096388 |
332 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751507640 CA9096387 |
334 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1599586271 CA403440689 |
338 | Q>L | No |
ClinGen Ensembl |
|
CA403440683 rs1383663050 |
339 | I>V | No |
ClinGen TOPMed |
|
CA9096383 rs764312178 |
340 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA9096380 rs767584323 |
345 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1299413656 CA403440590 |
346 | G>S | No |
ClinGen gnomAD |
|
rs1011767455 CA304485106 |
347 | M>I | No |
ClinGen TOPMed |
|
CA403440572 rs1366405325 |
347 | M>L | No |
ClinGen gnomAD |
|
rs774818942 CA9096378 |
349 | D>N | No |
ClinGen ExAC gnomAD |
|
rs150388848 CA403440524 |
350 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9096376 rs150388848 |
350 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA304485098 rs1040250017 |
351 | Q>H | No |
ClinGen gnomAD |
|
CA9096375 rs772750715 |
352 | S>L | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 354 | F>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1240757586 CA403440473 |
354 | F>S | No |
ClinGen TOPMed |
|
rs80251498 CA9096373 |
355 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200891787 CA304485088 |
356 | P>L | No |
ClinGen gnomAD |
|
CA9096371 rs768255608 |
356 | P>S | No |
ClinGen ExAC gnomAD |
|
rs1181319143 CA403440423 |
358 | S>N | No |
ClinGen gnomAD |
|
CA9096369 rs779999042 |
359 | Y>F | No |
ClinGen ExAC gnomAD |
|
CA9096367 rs368802247 |
360 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
rs1278885063 CA403440373 |
362 | V>M | No |
ClinGen gnomAD |
|
rs1221350699 CA403440357 |
363 | L>V | No |
ClinGen gnomAD |
|
rs752889222 CA9096364 |
364 | V>L | No |
ClinGen ExAC gnomAD |
|
CA403440345 rs752889222 |
364 | V>M | No |
ClinGen ExAC gnomAD |
|
CA403440306 rs1411006555 |
367 | P>L | No |
ClinGen TOPMed gnomAD |
1 associated diseases with Q99961
Without disease ID
Functions
8 GO annotations of cellular component
Name | Definition |
---|---|
anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
early endosome membrane | The lipid bilayer surrounding an early endosome. |
glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
podosome | An actin-rich adhesion structure characterized by formation upon cell substrate contact and localization at the substrate-attached part of the cell, contain an F-actin-rich core surrounded by a ring structure containing proteins such as vinculin and talin, and have a diameter of 0.5 mm. |
presynapse | The part of a synapse that is part of the presynaptic cell. |
3 GO annotations of molecular function
Name | Definition |
---|---|
cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
identical protein binding | Binding to an identical protein or proteins. |
lipid binding | Binding to a lipid. |
3 GO annotations of biological process
Name | Definition |
---|---|
central nervous system development | The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord. |
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. |
synaptic vesicle uncoating | The removal of the protein coat on a synaptic vesicle following the pinching step at the end of budding from the presynaptic membrane. |
15 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q2KJA1 | SH3GL1 | Endophilin-A2 | Bos taurus (Bovine) | PR |
Q8AXU9 | SH3GL3 | Endophilin-A3 | Gallus gallus (Chicken) | PR |
Q8AXV1 | SH3GL2 | Endophilin-A1 | Gallus gallus (Chicken) | PR |
Q5HYK7 | SH3D19 | SH3 domain-containing protein 19 | Homo sapiens (Human) | PR |
Q9Y371 | SH3GLB1 | Endophilin-B1 | Homo sapiens (Human) | PR |
Q99962 | SH3GL2 | Endophilin-A1 | Homo sapiens (Human) | PR |
Q99963 | SH3GL3 | Endophilin-A3 | Homo sapiens (Human) | PR |
Q9Y5K6 | CD2AP | CD2-associated protein | Homo sapiens (Human) | SS |
Q96B97 | SH3KBP1 | SH3 domain-containing kinase-binding protein 1 | Homo sapiens (Human) | EV |
Q62421 | Sh3gl3 | Endophilin-A3 | Mus musculus (Mouse) | PR |
Q62420 | Sh3gl2 | Endophilin-A1 | Mus musculus (Mouse) | PR |
Q62419 | Sh3gl1 | Endophilin-A2 | Mus musculus (Mouse) | PR |
Q9JK48 | Sh3glb1 | Endophilin-B1 | Mus musculus (Mouse) | PR |
O35180 | Sh3gl3 | Endophilin-A3 | Rattus norvegicus (Rat) | PR |
O35179 | Sh3gl2 | Endophilin-A1 | Rattus norvegicus (Rat) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MSVAGLKKQF | YKASQLVSEK | VGGAEGTKLD | DDFKEMEKKV | DVTSKAVTEV | LARTIEYLQP |
70 | 80 | 90 | 100 | 110 | 120 |
NPASRAKLTM | LNTVSKIRGQ | VKNPGYPQSE | GLLGECMIRH | GKELGGESNF | GDALLDAGES |
130 | 140 | 150 | 160 | 170 | 180 |
MKRLAEVKDS | LDIEVKQNFI | DPLQNLCEKD | LKEIQHHLKK | LEGRRLDFDY | KKKRQGKIPD |
190 | 200 | 210 | 220 | 230 | 240 |
EELRQALEKF | EESKEVAETS | MHNLLETDIE | QVSQLSALVD | AQLDYHRQAV | QILDELAEKL |
250 | 260 | 270 | 280 | 290 | 300 |
KRRMREASSR | PKREYKPKPR | EPFDLGEPEQ | SNGGFPCTTA | PKIAASSSFR | SSDKPIRTPS |
310 | 320 | 330 | 340 | 350 | 360 |
RSMPPLDQPS | CKALYDFEPE | NDGELGFHEG | DVITLTNQID | ENWYEGMLDG | QSGFFPLSYV |
EVLVPLPQ |