O60861
PR
Gene name |
GAS7 (KIAA0394) |
Protein name |
Growth arrest-specific protein 7 |
Names |
GAS-7 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8522 |
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
3 structures for O60861
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2LX7 | NMR | - | A | 1-60 | PDB |
| 2YSH | NMR | - | A | 79-111 | PDB |
| AF-O60861-F1 | Predicted | AlphaFoldDB |
333 variants for O60861
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287866879 rs374102406 |
3 | G>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA398236074 rs1597850620 |
4 | A>S | No |
ClinGen Ensembl |
|
|
rs746150159 CA8384978 |
4 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398236070 rs1365326563 |
5 | R>G | No |
ClinGen gnomAD |
|
|
CA398236055 rs1567629655 |
7 | R>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 7 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370392546 CA8384976 CA287866878 |
10 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 10 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398236034 rs1294805086 |
11 | P>A | No |
ClinGen TOPMed |
|
|
CA398236032 rs1034290900 |
11 | P>H | No |
ClinGen TOPMed |
|
|
rs1034290900 CA287866876 |
11 | P>L | No |
ClinGen TOPMed |
|
|
CA398236033 rs1294805086 |
11 | P>S | No |
ClinGen TOPMed |
|
|
rs1235573090 CA398236018 |
13 | S>C | No |
ClinGen TOPMed |
|
|
rs1167018122 CA398236016 |
14 | G>R | No |
ClinGen gnomAD |
|
|
rs749804570 CA8384975 |
15 | E>* | No |
ClinGen ExAC |
|
|
CA398236001 rs1175033266 |
16 | R>Q | No |
ClinGen gnomAD |
|
|
CA287866875 rs1045814146 |
17 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1045814146 CA398235997 |
17 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA287866874 rs897300611 |
19 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA398235981 rs1481269935 |
19 | Q>L | No |
ClinGen gnomAD |
|
|
CA287866873 rs1043030029 |
20 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA398235970 rs1263997648 |
21 | L>P | No |
ClinGen gnomAD |
|
|
rs1232552950 CA398235965 |
22 | R>P | No |
ClinGen gnomAD |
|
|
CA398235953 rs1487516138 |
24 | A>P | No |
ClinGen TOPMed |
|
|
CA8384971 rs767596280 |
24 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1328987501 CA398235940 |
26 | G>D | No |
ClinGen gnomAD |
|
|
rs1454406764 CA398235935 COSM1302387 |
27 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 29 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287866872 rs1038958940 |
30 | T>A | No |
ClinGen TOPMed |
|
|
CA398235906 rs1433245201 |
32 | L>M | No |
ClinGen TOPMed |
|
|
rs761667476 CA8384967 |
36 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs776521912 CA8384966 |
37 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398235853 rs1420151507 |
40 | W>G | No |
ClinGen gnomAD |
|
|
CA398235845 rs1453485213 |
41 | E>Q | No |
ClinGen TOPMed |
|
|
CA398235823 rs1381889187 |
44 | K>E | No |
ClinGen TOPMed |
|
|
CA8384965 rs545707468 |
46 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398235804 rs1177086311 |
46 | D>V | No |
ClinGen gnomAD |
|
|
rs374189365 CA8384963 |
49 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398235787 rs1200083444 |
49 | R>H | No |
ClinGen gnomAD |
|
|
rs1482424882 CA398235781 |
50 | G>D | No |
ClinGen gnomAD |
|
|
rs771563923 CA8384962 |
53 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352847475 CA398235756 |
54 | A>T | No |
ClinGen gnomAD |
|
|
CA8384961 rs745498833 |
56 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1383242589 CA398235729 |
58 | Q>K | No |
ClinGen gnomAD |
|
|
rs774209141 CA8384960 |
58 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774209141 CA398235725 |
58 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398235711 rs1288902010 |
60 | L>R | No |
ClinGen gnomAD |
|
|
CA287844546 rs1009977828 |
62 | K>N | No |
ClinGen Ensembl |
|
|
CA398235396 COSM708463 rs1228455463 |
64 | G>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA8384910 rs746094894 |
64 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs779039495 CA398235379 |
66 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs779039495 CA8384909 |
66 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA398235373 rs1165134674 |
67 | P>H | No |
ClinGen gnomAD |
|
|
CA398235372 rs1165134674 |
67 | P>L | No |
ClinGen gnomAD |
|
|
rs893927858 CA398235371 |
68 | P>A | No |
ClinGen gnomAD |
|
|
CA287844545 rs893927858 |
68 | P>T | No |
ClinGen gnomAD |
|
|
rs377484334 CA8384908 |
69 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8384905 rs200563905 |
70 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8384902 rs765976090 |
72 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8384903 rs751058048 |
72 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 72 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8384901 rs758050485 |
76 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398235313 rs1461923492 |
77 | V>D | No |
ClinGen TOPMed |
|
|
rs764851507 CA8384899 |
77 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs776894714 CA8384897 |
81 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 81 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764521353 CA8384896 |
88 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs949691462 CA287844541 |
89 | P>A | No |
ClinGen Ensembl |
|
|
rs949691462 CA287844542 |
89 | P>T | No |
ClinGen Ensembl |
|
|
CA8384893 COSM1207935 rs772105221 |
92 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs765276902 CA287844540 |
92 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1347870187 CA398235215 |
93 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA8384891 rs774584393 |
93 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA398235212 rs1597703883 |
94 | Y>D | No |
ClinGen Ensembl |
|
|
rs1465773692 CA398235189 |
97 | N>D | No |
ClinGen gnomAD |
|
|
rs1381579407 CA398235186 |
97 | N>S | No |
ClinGen TOPMed |
|
|
CA8384889 rs377140711 |
98 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398235176 rs1567546618 |
99 | T>A | No |
ClinGen Ensembl |
|
|
rs972464805 CA398235174 |
99 | T>I | No |
ClinGen gnomAD |
|
|
rs972464805 CA287844539 |
99 | T>N | No |
ClinGen gnomAD |
|
|
CA398235171 rs1229226989 |
100 | T>A | No |
ClinGen gnomAD |
|
|
rs754880397 CA8384887 |
100 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs35318670 CA8384886 |
101 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8384859 rs768000847 |
106 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1473943651 CA398113592 |
106 | E>K | No |
ClinGen TOPMed |
|
|
rs145906641 CA8384858 |
107 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8384857 rs150719505 |
107 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747997259 CA287727441 |
110 | S>G | No |
ClinGen Ensembl |
|
|
CA398113327 rs1361966482 |
112 | P>R | No |
ClinGen gnomAD |
|
|
rs1160966519 CA398113289 |
113 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
CA398113112 rs1380052045 |
118 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA287727435 rs979407386 |
119 | G>S | No |
ClinGen Ensembl |
|
|
CA398113032 rs1315370076 |
120 | S>F | No |
ClinGen TOPMed |
|
|
rs763135145 CA8384854 |
121 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA8384852 rs770166914 |
121 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398112987 rs1262421883 |
122 | R>G | No |
ClinGen gnomAD |
|
|
rs760511429 CA8384851 |
122 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA398112769 rs1181291805 |
127 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758983185 CA8384818 |
131 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398107694 rs1371468090 |
132 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1387757 rs1266349442 CA398107650 |
134 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 134 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398107520 rs1373552607 |
137 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs775313395 CA287721656 |
138 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775313395 CA398107494 |
138 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs765026371 CA287721648 |
139 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765026371 CA8384814 |
139 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8384812 rs759208116 |
140 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs141181301 CA8384810 |
141 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs538938894 CA287721626 |
142 | P>A | No |
ClinGen Ensembl |
|
|
CA8384808 rs773198846 |
143 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8384807 rs148648306 |
145 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747707871 CA8384806 |
146 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992195927 CA287721614 |
147 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8384805 rs776098356 |
148 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs768387156 CA8384804 |
149 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs747273725 CA8384803 |
150 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8384802 rs780484695 |
153 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA398107030 rs780484695 |
153 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA398107038 rs1191449401 |
153 | T>S | No |
ClinGen gnomAD |
|
|
rs545830122 CA8384800 COSM473613 |
154 | G>S | kidney Variant assessed as Somatic; 0.0 impact. pancreas [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA398107006 rs1280074011 |
155 | D>Y | No |
ClinGen gnomAD |
|
|
CA287721592 rs552201448 |
157 | Q>P | No |
ClinGen Ensembl |
|
|
rs759910726 CA8384761 |
158 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA398102616 rs1340992721 |
160 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1455959883 CA398102628 |
160 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs145998834 CA287715323 |
162 | S>L | No |
ClinGen ESP TOPMed |
|
|
rs749156863 CA287715316 |
163 | S>L | No |
ClinGen TOPMed |
|
|
CA8384757 rs769894533 |
164 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8384756 rs769894533 |
164 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287715314 rs916695252 |
164 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8384755 rs748250184 |
165 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs545937399 CA8384754 |
167 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1172119950 CA398102439 |
168 | Q>E | No |
ClinGen gnomAD |
|
|
CA8384753 rs755199322 |
171 | E>K | No |
ClinGen ExAC |
|
| TCGA novel | 172 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8384752 rs138111210 |
172 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398096897 rs1333840165 |
178 | C>G | No |
ClinGen TOPMed |
|
|
CA398096833 rs1567808228 |
180 | T>A | No |
ClinGen Ensembl |
|
|
rs754573807 CA8384726 |
180 | T>M | Variant assessed as Somatic; 9.244e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA398096795 rs765969067 |
183 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1597508253 CA398096787 |
183 | H>P | No |
ClinGen Ensembl |
|
|
CA8384724 rs765969067 |
183 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA8384723 rs763337191 |
186 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1394145262 CA398096735 CA398096734 |
187 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA398096741 rs1359296856 |
187 | M>V | No |
ClinGen gnomAD |
|
|
CA8384721 rs765719777 |
188 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 189 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 189 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398096699 rs1160849278 |
192 | L>P | No |
ClinGen gnomAD |
|
|
rs775737847 CA8384716 |
196 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287707117 rs561187985 |
197 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA287707112 rs561187985 |
197 | E>Q | No |
ClinGen TOPMed |
|
|
rs749051106 CA8384714 |
199 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 202 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210044321 CA398096633 |
202 | D>Y | No |
ClinGen gnomAD |
|
|
rs1484662050 CA398096622 |
203 | Y>F | No |
ClinGen gnomAD |
|
| TCGA novel | 207 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287704937 rs759708568 |
215 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759708568 CA8384678 COSM563271 COSM1141329 |
215 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774386040 CA8384677 |
216 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1367774887 CA398095161 |
217 | V>E | No |
ClinGen Ensembl |
|
|
rs150413928 CA8384672 CA8384673 |
217 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150413928 CA8384671 |
217 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1178291 rs771463978 COSM1178292 CA8384670 |
218 | A>S | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA398095131 rs1196903844 |
219 | G>R | No |
ClinGen TOPMed |
|
|
rs1326389556 CA398095053 |
222 | L>P | No |
ClinGen gnomAD |
|
|
rs753543542 CA8384666 |
230 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753543542 CA398094870 |
230 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374394529 CA287704918 |
232 | Q>E | No |
ClinGen Ensembl |
|
|
CA398094793 rs1460109282 |
233 | M>L | No |
ClinGen gnomAD |
|
|
rs772403957 CA287704915 |
234 | Q>K | No |
ClinGen Ensembl |
|
| TCGA novel | 239 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140497234 CA8384665 |
239 | E>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA8384664 rs756539206 |
241 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371273884 CA398094532 |
242 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA398093280 rs1193959575 |
245 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 246 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238650332 CA398093178 |
247 | I>M | No |
ClinGen gnomAD |
|
|
CA8384634 rs765522796 |
252 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA398093076 rs765522796 |
252 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8384635 rs765522796 |
252 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1374776659 CA398093065 |
253 | K>* | No |
ClinGen gnomAD |
|
| TCGA novel | 253 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8384630 rs759461888 |
261 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA287702953 rs868671986 |
262 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768972940 CA287702945 |
264 | A>V | No |
ClinGen Ensembl |
|
|
rs776188465 CA8384604 |
270 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA398090349 rs1269311900 |
273 | E>D | No |
ClinGen gnomAD |
|
|
CA8384603 rs769045182 |
274 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780669731 CA398090289 |
276 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 276 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780669731 CA8384601 |
276 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772714331 CA8384600 |
277 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745889411 CA8384599 |
278 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1181882281 CA398090214 |
279 | K>N | No |
ClinGen Ensembl |
|
|
rs779042022 COSM180438 CA8384598 COSM1134064 |
283 | A>V | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA8384596 rs754065850 |
284 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs754726154 CA8384594 |
285 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762865076 CA8384591 |
287 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1009118343 CA287699888 |
287 | E>Q | No |
ClinGen TOPMed |
|
|
CA398089981 rs1468222505 |
290 | L>V | No |
ClinGen gnomAD |
|
|
CA398089908 CA398089910 rs1251176426 |
292 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs1168952812 CA398089921 |
292 | F>S | No |
ClinGen gnomAD |
|
|
CA8384590 rs750394474 |
293 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA398089900 rs1375938507 |
293 | S>P | No |
ClinGen gnomAD |
|
|
rs867266254 CA287699887 |
294 | A>S | No |
ClinGen Ensembl |
|
|
CA287736643 rs969857113 |
297 | H>Q | No |
ClinGen gnomAD |
|
|
rs1233308349 CA398088352 |
298 | S>I | No |
ClinGen gnomAD |
|
|
rs756352154 CA8384576 |
298 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748419631 CA8384575 |
299 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA8384574 rs139171324 |
303 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8384573 rs758256358 |
305 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs960339369 CA287736621 |
306 | N>I | No |
ClinGen TOPMed |
|
|
rs960339369 CA398088298 |
306 | N>T | No |
ClinGen TOPMed |
|
|
COSM249569 rs1377806042 CA398088285 |
308 | R>G | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM239951 rs765099165 CA8384571 |
308 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA8384568 rs763787573 |
311 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 312 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 314 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398088220 rs1272562706 |
316 | K>N | No |
ClinGen gnomAD |
|
|
CA8384567 rs760376920 |
316 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA287736594 rs79771487 |
319 | D>A | No |
ClinGen Ensembl |
|
|
rs767984098 CA8384565 |
319 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287736599 rs1004133470 |
319 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759835386 CA398088189 |
321 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs759835386 CA8384564 |
321 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA287736583 rs869089706 |
324 | D>A | No |
ClinGen Ensembl |
|
|
CA8384562 rs771374111 |
324 | D>N | Variant assessed as Somatic; 0.0004691 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs869089706 CA287736577 |
324 | D>V | No |
ClinGen Ensembl |
|
|
rs1567780606 CA398088153 |
326 | R>L | No |
ClinGen Ensembl |
|
|
CA287736564 rs888531174 |
328 | Q>E | No |
ClinGen Ensembl |
|
|
CA8384560 rs773254098 |
329 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs146733108 CA8384557 |
330 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000905809 CA8384558 rs146733108 |
330 | A>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA398088132 rs146733108 |
330 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758153641 CA8384556 |
331 | S>G | No |
ClinGen ExAC |
|
|
rs1234609875 CA398088126 |
331 | S>N | No |
ClinGen gnomAD |
|
|
CA8384555 rs745653138 |
332 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8384554 COSM1165491 COSM1165490 rs778868086 |
332 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA398088118 rs778868086 |
332 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA398088111 rs1400777290 |
333 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA8384553 rs757160621 |
333 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1291027219 CA398088108 |
334 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs545557656 CA8384552 |
335 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA398088099 rs755747939 |
336 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA8384550 rs755747939 |
336 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 338 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 338 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398088064 rs1295889650 |
339 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA398088059 COSM288736 COSM1141326 rs1325240094 |
340 | R>Q | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA8384519 rs142502537 |
340 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373913844 CA8384518 |
342 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA287735553 rs868154141 |
342 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 344 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770578689 CA8384516 |
344 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs991459503 CA287735545 |
345 | E>Q | No |
ClinGen TOPMed |
|
|
CA398088011 rs1175283235 |
348 | R>K | No |
ClinGen gnomAD |
|
|
rs1270710539 CA398088000 |
349 | D>E | No |
ClinGen TOPMed |
|
|
CA8384514 rs779560232 |
352 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA287735525 rs945642547 |
361 | L>Q | No |
ClinGen TOPMed |
|
|
CA8384510 rs370876732 |
369 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8384508 rs779768381 |
372 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA8384506 rs373761856 |
373 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA398087833 rs1349126457 |
373 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs754379943 CA398087823 |
375 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA8384503 rs754379943 |
375 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM94369 rs1567778613 CA398087809 |
377 | T>A | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1390713662 CA398087805 |
377 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 379 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA287730280 rs368321995 |
380 | G>E | No |
ClinGen ESP TOPMed |
|
|
rs3815354 CA287730271 |
381 | D>H | No |
ClinGen Ensembl |
|
|
rs1449151046 CA398087755 |
382 | D>E | No |
ClinGen gnomAD |
|
|
CA8384478 rs774783663 |
385 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1189933712 CA398087730 |
386 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1485963817 CA398087709 |
389 | L>R | No |
ClinGen gnomAD |
|
|
rs1419371387 CA398087665 |
395 | S>F | No |
ClinGen TOPMed |
|
|
rs776365443 CA8384475 |
396 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8384474 rs768667412 |
401 | M>V | No |
ClinGen ExAC |
|
|
CA8384472 rs775040356 |
403 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs745511730 CA8384470 |
405 | T>A | No |
ClinGen ExAC |
|
| rs778591317 | 406 | L>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 407 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398087573 rs1207923514 |
407 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 410 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749184881 CA398087550 |
410 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8384443 rs749184881 |
410 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218326469 CA398087551 |
410 | R>W | No |
ClinGen gnomAD |
|
|
CA8384441 rs202125544 |
412 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs201170646 CA8384439 |
413 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA8384440 rs371596444 |
413 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760440686 CA8384437 |
414 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA398087525 rs1377694119 |
415 | R>G | No |
ClinGen gnomAD |
|
|
CA8384436 rs752569992 |
416 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA8384434 rs759002085 |
418 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA8384432 rs200175032 |
420 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8384433 rs773831004 |
420 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748467211 CA8384428 |
425 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA398087453 rs1280807405 |
425 | Q>L | No |
ClinGen gnomAD |
|
|
CA398087438 rs1310076942 COSM3378421 COSM3378419 |
427 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs376131146 CA8384424 |
430 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747566446 CA8384425 |
430 | R>W | Variant assessed as Somatic; 4.651e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 431 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398087413 rs1242282716 |
432 | E>K | No |
ClinGen TOPMed |
|
|
rs1567766695 CA398087401 |
433 | T>R | No |
ClinGen Ensembl |
|
|
rs750641887 CA8384422 |
435 | M>I | No |
ClinGen ExAC gnomAD |
|
| rs200968141 | 439 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398087356 rs1357662469 |
439 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA398087355 rs1357662469 |
439 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA398087332 rs1195150810 |
441 | V>F | No |
ClinGen gnomAD |
|
|
rs749501790 CA8384383 |
442 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398087312 rs1487812028 |
444 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA398087314 rs1487812028 |
444 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs375552919 CA8384381 |
445 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA398087306 rs1168181622 |
445 | D>Y | No |
ClinGen gnomAD |
|
|
rs779994808 CA8384379 |
449 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA398087280 rs562657250 |
449 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8384378 rs562657250 |
449 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1597435477 CA398087262 |
452 | D>A | No |
ClinGen Ensembl |
|
|
rs778281299 CA8384376 |
453 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8384372 rs761078354 |
454 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769892295 CA287727815 |
455 | K>E | No |
ClinGen Ensembl |
|
|
CA398087224 rs1308607944 |
458 | E>Q | No |
ClinGen gnomAD |
|
|
rs371709119 CA8384371 |
462 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA287727808 rs967868961 |
465 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA398087170 rs1368543938 |
465 | K>R | No |
ClinGen gnomAD |
|
|
rs1597435371 CA398087164 |
466 | T>M | No |
ClinGen Ensembl |
|
|
CA398087152 rs1376537398 |
468 | N>S | No |
ClinGen gnomAD |
|
|
CA398087147 rs1196161481 |
469 | I>V | No |
ClinGen gnomAD |
|
|
CA398087114 rs1183619683 |
474 | M>V | No |
ClinGen gnomAD |
|
|
CA398087087 rs1196574629 |
477 | I>W | No |
ClinGen TOPMed |
1 associated diseases with O60861
Without disease ID
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin filament | A filamentous structure formed of a two-stranded helical polymer of the protein actin and associated proteins. Actin filaments are a major component of the contractile apparatus of skeletal muscle and the microfilaments of the cytoskeleton of eukaryotic cells. The filaments, comprising polymerized globular actin molecules, appear as flexible structures with a diameter of 5-9 nm. They are organized into a variety of linear bundles, two-dimensional networks, and three dimensional gels. In the cytoskeleton they are most highly concentrated in the cortex of the cell just beneath the plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| identical protein binding | Binding to an identical protein or proteins. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| actin filament polymerization | Assembly of actin filaments by the addition of actin monomers to a filament. |
| neuron projection morphogenesis | The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. |
30 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P25623 | SYP1 | Suppressor of yeast profilin deletion | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q9Y0H4 | Su(dx) | E3 ubiquitin-protein ligase Su | Drosophila melanogaster (Fruit fly) | SS |
| Q9V853 | Smurf | E3 ubiquitin-protein ligase Smurf1 | Drosophila melanogaster (Fruit fly) | SS |
| Q9HAU4 | SMURF2 | E3 ubiquitin-protein ligase SMURF2 | Homo sapiens (Human) | EV |
| O00308 | WWP2 | NEDD4-like E3 ubiquitin-protein ligase WWP2 | Homo sapiens (Human) | EV |
| Q9HCE7 | SMURF1 | E3 ubiquitin-protein ligase SMURF1 | Homo sapiens (Human) | PR |
| O95817 | BAG3 | BAG family molecular chaperone regulator 3 | Homo sapiens (Human) | PR |
| Q96PU5 | NEDD4L | E3 ubiquitin-protein ligase NEDD4-like | Homo sapiens (Human) | PR |
| P46934 | NEDD4 | E3 ubiquitin-protein ligase NEDD4 | Homo sapiens (Human) | EV |
| Q9H0M0 | WWP1 | NEDD4-like E3 ubiquitin-protein ligase WWP1 | Homo sapiens (Human) | EV |
| Q96J02 | ITCH | E3 ubiquitin-protein ligase Itchy homolog | Homo sapiens (Human) | EV |
| Q9BQI5 | SGIP1 | SH3-containing GRB2-like protein 3-interacting protein 1 | Homo sapiens (Human) | PR |
| Q9UKS6 | PACSIN3 | Protein kinase C and casein kinase substrate in neurons protein 3 | Homo sapiens (Human) | SS |
| Q9BY11 | PACSIN1 | Protein kinase C and casein kinase substrate in neurons protein 1 | Homo sapiens (Human) | EV |
| Q9UNF0 | PACSIN2 | Protein kinase C and casein kinase substrate in neurons protein 2 | Homo sapiens (Human) | EV |
| Q9H939 | PSTPIP2 | Proline-serine-threonine phosphatase-interacting protein 2 | Homo sapiens (Human) | PR |
| P46935 | Nedd4 | E3 ubiquitin-protein ligase NEDD4 | Mus musculus (Mouse) | PR |
| Q9CUN6 | Smurf1 | E3 ubiquitin-protein ligase SMURF1 | Mus musculus (Mouse) | PR |
| A2A5Z6 | Smurf2 | E3 ubiquitin-protein ligase SMURF2 | Mus musculus (Mouse) | SS |
| Q8BZZ3 | Wwp1 | NEDD4-like E3 ubiquitin-protein ligase WWP1 | Mus musculus (Mouse) | SS |
| Q8C863 | Itch | E3 ubiquitin-protein ligase Itchy | Mus musculus (Mouse) | EV |
| Q9DBH0 | Wwp2 | NEDD4-like E3 ubiquitin-protein ligase WWP2 | Mus musculus (Mouse) | SS |
| Q8CFI0 | Nedd4l | E3 ubiquitin-protein ligase NEDD4-like | Mus musculus (Mouse) | PR |
| P97814 | Pstpip1 | Proline-serine-threonine phosphatase-interacting protein 1 | Mus musculus (Mouse) | PR |
| Q99M15 | Pstpip2 | Proline-serine-threonine phosphatase-interacting protein 2 | Mus musculus (Mouse) | PR |
| Q8VD37 | Sgip1 | SH3-containing GRB2-like protein 3-interacting protein 1 | Mus musculus (Mouse) | PR |
| Q60780 | Gas7 | Growth arrest-specific protein 7 | Mus musculus (Mouse) | PR |
| Q62940 | Nedd4 | E3 ubiquitin-protein ligase NEDD4 | Rattus norvegicus (Rat) | PR |
| Q9N2Z7 | wwp-1 | E3 ubiquitin-protein ligase wwp-1 | Caenorhabditis elegans | SS |
| A9JRZ0 | smurf2 | E3 ubiquitin-protein ligase SMURF2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGARCRTLY | PFSGERHGQG | LRFAAGELIT | LLQVPDGGWW | EGEKEDGLRG | WFPASYVQLL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EKPGMVPPPP | GEESQTVILP | PGWQSYLSPQ | GRRYYVNTTT | NETTWERPSS | SPGIPASPGS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HRSSLPPTVN | GYHASGTPAH | PPETAHMSVR | KSTGDSQNLG | SSSPSKKQSK | ENTITINCVT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FPHPDTMPEQ | QLLKPTEWSY | CDYFWADKKD | PQGNGTVAGF | ELLLQKQLKG | KQMQKEMSEF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IRERIKIEED | YAKNLAKLSQ | NSLASQEEGS | LGEAWAQVKK | SLADEAEVHL | KFSAKLHSEV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EKPLMNFREN | FKKDMKKCDH | HIADLRKQLA | SRYASVEKAR | KALTERQRDL | EMKTQQLEIK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LSNKTEEDIK | KARRKSTQAG | DDLMRCVDLY | NQAQSKWFEE | MVTTTLELER | LEVERVEMIR |
| 430 | 440 | 450 | 460 | 470 | |
| QHLCQYTQLR | HETDMFNQST | VEPVDQLLRK | VDPAKDRELW | VREHKTGNIR | PVDMEI |