Q86WV1
Gene name |
SKAP1 (SCAP1, SKAP55) |
Protein name |
Src kinase-associated phosphoprotein 1 |
Names |
Src family-associated phosphoprotein 1, Src kinase-associated phosphoprotein of 55 kDa, SKAP-55, pp55 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8631 |
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
2 structures for Q86WV1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1U5D | X-ray | 170 A | A/B/C/D | 108-213 | PDB |
| AF-Q86WV1-F1 | Predicted | AlphaFoldDB |
281 variants for Q86WV1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA400316228 rs1351608116 |
2 | Q>R | No |
ClinGen gnomAD |
|
|
rs1259877653 CA400316224 |
3 | A>T | No |
ClinGen gnomAD |
|
|
rs751222794 CA8631623 |
4 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1236892796 CA400316196 |
7 | P>L | No |
ClinGen gnomAD |
|
|
CA8631621 rs762740429 |
9 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA400316173 rs1350430741 |
11 | R>G | No |
ClinGen gnomAD |
|
|
CA400316169 rs1387810311 |
11 | R>P | No |
ClinGen TOPMed |
|
|
CA400316166 rs1448578017 |
12 | W>R | No |
ClinGen TOPMed |
|
|
rs148514032 CA8631612 |
17 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400314061 rs1356696565 |
18 | E>K | No |
ClinGen gnomAD |
|
|
rs1026271488 CA291164971 |
21 | L>V | No |
ClinGen gnomAD |
|
|
rs1236319510 CA400314027 |
23 | E>K | No |
ClinGen gnomAD |
|
|
CA8631611 rs748506982 |
24 | G>D | No |
ClinGen ExAC |
|
|
CA8631607 rs201863491 |
26 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA8631609 rs11079820 |
26 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1322618930 CA400314003 |
27 | N>D | No |
ClinGen TOPMed |
|
|
rs1017344726 CA400313997 |
27 | N>K | No |
ClinGen TOPMed |
|
| TCGA novel | 30 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1226061277 CA400313973 |
31 | S>G | No |
ClinGen TOPMed |
|
|
CA8631606 rs550600837 |
31 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA291164963 rs939886164 |
32 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8631604 rs746503212 |
32 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs777440307 CA8631603 |
33 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA8631602 rs758006067 |
34 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1229847951 CA400313958 |
34 | A>T | No |
ClinGen TOPMed |
|
|
rs1453786574 CA400313916 |
39 | D>E | No |
ClinGen gnomAD |
|
|
rs753812443 CA8631598 |
40 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA291164957 rs1051329325 |
41 | I>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 41 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs112999194 CA8631597 |
43 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8631596 rs112999194 |
43 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA291164955 rs116549994 |
43 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA8631595 rs773197690 |
46 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146257434 CA291164952 |
47 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA8631594 CA8631593 rs761919700 |
47 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1309287514 CA400313857 |
49 | K>R | No |
ClinGen gnomAD |
|
|
CA8631592 rs373333526 |
50 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232920630 CA400313853 |
50 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA291158927 rs990867731 |
52 | Y>C | No |
ClinGen TOPMed |
|
|
rs756028307 CA8631576 |
52 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs372268674 CA8631574 |
53 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA291158921 rs887085975 |
54 | W>L | No |
ClinGen Ensembl |
|
|
CA400313122 rs1567884117 |
55 | D>Y | No |
ClinGen Ensembl |
|
|
rs866208824 CA291158918 |
57 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA8631573 rs368159992 |
58 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1414269659 CA400313098 |
58 | P>L | No |
ClinGen gnomAD |
|
|
rs368159992 CA8631572 |
58 | P>T | No |
ClinGen ExAC gnomAD |
|
| rs764249578 | 60 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400312459 rs751645756 |
60 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291154528 rs751645756 |
60 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8631551 rs751645756 |
60 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866976111 CA291154517 |
61 | G>* | No |
ClinGen gnomAD |
|
| TCGA novel | 62 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs114223532 CA400312441 |
63 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs114223532 CA8631548 |
63 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8631547 rs765511266 |
65 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA8631546 rs376131521 |
65 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1459376316 CA400312421 |
66 | D>E | No |
ClinGen gnomAD |
|
|
rs1598596432 CA400312427 |
66 | D>N | No |
ClinGen Ensembl |
|
|
rs373452898 CA291154477 |
68 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373452898 CA8631545 |
68 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400312400 rs771472546 |
69 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400312405 rs1244505324 |
69 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 69 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761364739 CA400312393 CA8631543 |
70 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315078152 CA400312394 |
70 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 73 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774021193 CA8631542 |
73 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA8631538 rs769466816 |
74 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8631540 COSM1734574 CA8631539 rs116419751 |
74 | G>R | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| TCGA novel | 79 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757237792 CA8631535 |
82 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs377081667 CA8631533 |
83 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758537059 CA8631532 |
84 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA400312309 rs1438004436 |
84 | A>V | No |
ClinGen gnomAD |
|
|
rs1286782749 CA400312282 |
88 | S>L | No |
ClinGen TOPMed |
|
|
CA400312257 rs1209664574 COSM1172426 |
92 | D>N | oesophagus skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs141667170 CA8631530 |
93 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759751117 CA8631529 |
94 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs376880992 CA8631518 |
95 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1290777525 CA400313826 |
95 | M>V | No |
ClinGen TOPMed |
|
|
CA8631517 rs746940081 |
96 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379875054 CA400313805 |
97 | D>E | No |
ClinGen gnomAD |
|
|
CA8631516 rs777742001 |
97 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224901446 CA400313811 |
97 | D>N | No |
ClinGen gnomAD |
|
|
CA291055927 rs1036659799 |
98 | I>V | No |
ClinGen Ensembl |
|
|
rs748263980 CA8631514 |
99 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs748263980 CA291055924 |
99 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA400313769 rs1261334043 |
103 | Q>L | No |
ClinGen gnomAD |
|
|
rs1567812577 CA400313763 |
104 | E>G | No |
ClinGen Ensembl |
|
|
CA8631513 rs778961593 |
104 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 105 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8631511 rs754058141 |
108 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8631510 rs766735166 |
112 | G>R | No |
ClinGen ExAC |
|
|
rs932858939 CA291055923 |
113 | Y>C | No |
ClinGen Ensembl |
|
|
rs1365187909 CA400313666 |
118 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs750956834 CA8631508 |
118 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1256487188 CA400313654 |
119 | K>R | No |
ClinGen gnomAD |
|
|
rs768155813 CA8631507 |
120 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs370712801 CA8631492 |
123 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 124 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368601769 CA8631490 COSM1563789 |
126 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA400313593 rs1199032711 |
126 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200982650 CA291055743 |
129 | Q>K | No |
ClinGen 1000Genomes |
|
|
COSM1610417 rs752043819 CA8631487 |
131 | R>* | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA400313556 rs1482971217 |
131 | R>Q | No |
ClinGen TOPMed |
|
|
CA291055741 rs375916385 |
135 | V>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1333870902 CA400313522 |
136 | S>N | No |
ClinGen gnomAD |
|
|
rs759021727 CA8631485 COSM223886 |
138 | G>D | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 140 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766023837 CA400313485 CA8631483 |
141 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs371478605 CA8631482 |
143 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8631481 rs773010910 |
144 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs984596720 CA291055439 |
149 | K>R | No |
ClinGen Ensembl |
|
|
rs765964736 CA8631466 |
153 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454098344 CA400313385 |
154 | T>A | No |
ClinGen TOPMed |
|
|
rs750117051 CA8631465 |
157 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs767297976 CA8631463 |
157 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs750117051 CA8631464 |
157 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs761570642 CA8631462 |
158 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs774288550 CA8631461 |
159 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA400313342 rs2278868 |
161 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2278868 VAR_029811 CA8631458 |
161 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 161 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400313330 rs1273505806 |
163 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs573034197 CA8631456 COSM1130244 |
163 | R>W | pancreas large_intestine prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA400313325 rs1409839486 |
164 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1439010314 CA400313314 |
165 | A>G | No |
ClinGen gnomAD |
|
|
CA400313310 rs1398260208 |
166 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8631455 rs770050644 |
166 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771265934 CA8631452 |
167 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771265934 CA8631453 |
167 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291055438 rs199779652 |
168 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199779652 CA8631451 |
168 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8631449 rs758850569 |
169 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs138939780 CA8631448 COSM233371 |
169 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8631447 rs779507054 |
171 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA8631446 rs755689431 |
172 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400313255 rs1598405298 |
175 | E>D | No |
ClinGen Ensembl |
|
|
rs868270032 CA291055437 |
175 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 178 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA291055436 rs1004261231 |
178 | F>S | No |
ClinGen TOPMed |
|
|
rs1468961174 CA400313231 |
179 | E>Q | No |
ClinGen TOPMed |
|
|
CA400313223 rs1488989398 |
180 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750065617 CA8631445 |
181 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA400313209 rs1208809418 |
182 | S>F | No |
ClinGen gnomAD |
|
|
CA8631444 rs767091028 |
183 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1277090542 CA400313205 |
183 | Q>R | No |
ClinGen gnomAD |
|
|
rs1017266798 CA291055435 |
186 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA8631443 rs761604918 COSM3795726 |
186 | R>H | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 187 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA400313167 rs1260084715 |
188 | Y>* | No |
ClinGen gnomAD |
|
|
CA400313162 rs1289590687 |
189 | E>G | No |
ClinGen gnomAD |
|
|
CA8631428 rs745387774 |
190 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs780860622 CA8631427 |
195 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1466969226 CA400313038 |
195 | P>L | No |
ClinGen gnomAD |
|
|
rs939630563 CA291055130 |
196 | A>G | No |
ClinGen TOPMed |
|
|
rs944254274 CA291055128 |
199 | R>G | No |
ClinGen Ensembl |
|
|
CA8631425 rs751278029 |
205 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1567809293 CA400312964 |
206 | S>N | No |
ClinGen Ensembl |
|
|
CA8631424 rs146842117 |
206 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1598403164 CA400312960 |
207 | F>I | No |
ClinGen Ensembl |
|
|
CA8631423 rs758322592 |
207 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 208 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142516955 CA400312933 |
210 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs756836327 CA8631409 |
212 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1448215053 CA400312902 |
213 | S>R | No |
ClinGen TOPMed |
|
|
rs367654574 CA291054830 |
215 | L>V | No |
ClinGen Ensembl |
|
|
rs1370565104 CA400312883 |
216 | T>N | No |
ClinGen TOPMed |
|
|
rs1222641715 CA400312882 |
217 | I>L | No |
ClinGen TOPMed |
|
|
rs746625539 CA8631408 |
218 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA400312873 rs1380251270 |
218 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1325320595 CA400312867 |
219 | Y>C | No |
ClinGen TOPMed |
|
|
rs758197913 CA8631406 |
222 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400312825 rs1190968672 |
224 | E>D | No |
ClinGen gnomAD |
|
|
CA400312831 rs1200479471 |
224 | E>K | No |
ClinGen TOPMed |
|
|
rs764622914 CA291054825 |
225 | E>G | No |
ClinGen Ensembl |
|
|
CA291054826 rs868776600 |
225 | E>K | No |
ClinGen gnomAD |
|
|
rs1598401354 CA400312817 |
226 | E>K | No |
ClinGen Ensembl |
|
|
rs759135604 CA8631405 |
227 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291054823 rs866205509 |
228 | K>E | No |
ClinGen Ensembl |
|
|
rs1271285621 CA400312799 |
228 | K>R | No |
ClinGen gnomAD |
|
|
rs1223348241 CA400312781 |
230 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA400312778 rs1598401310 |
231 | T>A | No |
ClinGen Ensembl |
|
|
rs1567808466 CA400312748 |
235 | I>V | No |
ClinGen Ensembl |
|
|
rs1241024008 CA400312736 |
236 | D>E | No |
ClinGen gnomAD |
|
|
rs1176633176 CA400312738 |
236 | D>G | No |
ClinGen TOPMed |
|
|
rs1283801825 CA400312742 |
236 | D>Y | No |
ClinGen gnomAD |
|
|
CA400312731 rs1481579875 |
237 | G>D | No |
ClinGen TOPMed |
|
|
CA400312734 rs1317431256 |
237 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA291054818 rs955198177 |
240 | S>A | No |
ClinGen TOPMed |
|
|
rs1466420501 CA400312709 |
240 | S>C | No |
ClinGen TOPMed |
|
|
rs765216777 CA8631404 |
241 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA8631403 VAR_035343 rs35288886 |
242 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs111771569 CA8631402 |
246 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1442103475 CA400312665 |
247 | C>Y | No |
ClinGen TOPMed |
|
|
CA400312660 rs1158464855 |
248 | R>G | No |
ClinGen gnomAD |
|
|
CA400312656 CA400312655 rs1358000603 |
248 | R>S | No |
ClinGen gnomAD |
|
|
CA8631400 rs760867806 |
248 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs750553383 CA8631399 |
250 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400312648 rs1296907727 |
250 | T>P | No |
ClinGen gnomAD |
|
|
rs767733529 CA8631398 |
253 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA8631397 rs762127748 |
254 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA8631396 rs774723073 |
255 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA8631395 rs769061048 |
257 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA400312586 rs1318375593 |
260 | E>K | No |
ClinGen TOPMed |
|
|
rs776134630 CA8631393 |
261 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs763341737 CA8631394 |
261 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs770286423 CA8631391 |
267 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs771871459 CA8631388 |
269 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA400312511 rs1337949712 |
270 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1337949712 CA400312510 |
270 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA8631386 rs747850299 |
271 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA400312481 rs1033101502 CA291054794 |
274 | L>F | No |
ClinGen TOPMed |
|
|
CA8631384 rs754886738 |
275 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1490853547 CA400312475 |
276 | D>N | No |
ClinGen TOPMed |
|
|
CA8631366 rs151249688 |
278 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8631367 rs151249688 |
278 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8631365 rs768514743 |
279 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA8631362 rs573126940 |
285 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574969815 CA291053575 |
286 | S>G | No |
ClinGen gnomAD |
|
|
rs781219641 CA8631360 |
289 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8631359 COSM561220 rs142272724 |
290 | R>* | lung Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA8631358 rs751770631 COSM1722680 |
290 | R>Q | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA8631335 rs765629624 |
293 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA291053548 rs201999452 |
293 | V>I | No |
ClinGen Ensembl |
|
|
rs1392957226 CA400312099 |
294 | D>G | No |
ClinGen gnomAD |
|
|
CA400312093 rs1240174496 |
295 | Y>H | No |
ClinGen gnomAD |
|
|
rs973240616 CA291052200 |
296 | A>D | No |
ClinGen TOPMed |
|
|
rs1330795694 CA400312084 |
296 | A>S | No |
ClinGen gnomAD |
|
|
rs1301478111 CA400312077 |
297 | S>T | No |
ClinGen gnomAD |
|
|
rs1406846382 CA400312058 |
299 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA291052194 rs962128143 |
302 | L>P | No |
ClinGen TOPMed |
|
|
CA8631332 rs555739301 |
304 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1410029792 CA400312004 |
307 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs909838772 CA291052188 |
311 | D>E | No |
ClinGen Ensembl |
|
|
CA8631330 rs536068830 |
311 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774022799 CA8631329 |
313 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA400311959 rs1426808016 |
314 | S>A | No |
ClinGen gnomAD |
|
|
CA400311956 rs1201053878 |
314 | S>F | No |
ClinGen gnomAD |
|
|
CA400311961 rs1426808016 |
314 | S>T | No |
ClinGen gnomAD |
|
|
rs1234259563 CA400311953 |
315 | F>V | No |
ClinGen TOPMed |
|
|
rs1276765734 CA400311943 |
316 | Q>R | No |
ClinGen TOPMed |
|
|
CA8631326 rs368166369 |
317 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762638366 CA8631327 |
317 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8631325 rs148912908 |
318 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745681170 CA8631324 |
318 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746994680 CA8631321 CA8631322 |
319 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8631323 rs776507061 |
319 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225640924 CA400311921 |
321 | I>L | No |
ClinGen gnomAD |
|
|
CA400311912 rs1346380610 |
322 | R>C | No |
ClinGen gnomAD |
|
|
CA8631319 rs146750859 |
322 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8631320 rs146750859 |
322 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA400311866 rs1217685535 |
327 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA400311865 rs1217685535 |
327 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA400311857 rs1282267524 |
328 | Y>C | No |
ClinGen gnomAD |
|
|
CA400311861 rs1317251061 |
328 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1419759414 CA400311840 |
330 | M>I | No |
ClinGen TOPMed |
|
|
CA8631264 rs767395301 |
330 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs761625794 CA8631263 |
334 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA8631262 rs774415489 |
335 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1381147127 CA400311784 |
338 | L>P | No |
ClinGen gnomAD |
|
|
rs1287560564 CA400311779 |
339 | N>T | No |
ClinGen gnomAD |
|
|
CA400311769 rs1346698835 |
340 | S>I | No |
ClinGen Ensembl |
|
|
rs763142121 CA8631260 |
340 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs143407064 CA8631256 |
342 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143407064 CA8631257 |
342 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA8631258 rs770175322 |
342 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770175322 CA400311761 |
342 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1598351283 CA400311751 |
344 | I>V | No |
ClinGen Ensembl |
|
|
rs761632125 CA8631255 |
346 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8631254 rs373548020 |
349 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 353 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA291047950 rs932820063 |
354 | F>S | No |
ClinGen Ensembl |
|
|
CA400311674 rs754416960 |
355 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA291047949 rs772095586 |
356 | V>L | No |
ClinGen Ensembl |
|
|
CA400311652 rs1188149160 |
358 | E>D | No |
ClinGen gnomAD |
|
| rs867194496 | 360 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1486140937 CA400311643 |
360 | R>R | No |
ClinGen gnomAD |
No associated diseases with Q86WV1
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| 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. |
| immunological synapse | An area of close contact between a lymphocyte (T-, B-, or natural killer cell) and a target cell formed through the clustering of particular signaling and adhesion molecules and their associated membrane rafts on both the lymphocyte and the target cell and facilitating activation of the lymphocyte, transfer of membrane from the target cell to the lymphocyte, and in some situations killing of the target cell through release of secretory granules and/or death-pathway ligand-receptor interaction. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| plasma membrane raft | A membrane raft that is part of the plasma membrane. |
| T cell receptor complex | A protein complex that contains a disulfide-linked heterodimer of T cell receptor (TCR) chains, which are members of the immunoglobulin superfamily, and mediates antigen recognition, ultimately resulting in T cell activation. The TCR heterodimer is associated with the CD3 complex, which consists of the nonpolymorphic polypeptides gamma, delta, epsilon, zeta, and, in some cases, eta (an RNA splice variant of zeta) or Fc epsilon chains. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| protein phosphatase binding | Binding to a protein phosphatase. |
| SH2 domain binding | Binding to a SH2 domain (Src homology 2) of a protein, a protein domain of about 100 amino-acid residues and belonging to the alpha + beta domain class. |
| SH3 domain binding | Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| positive regulation of adaptive immune response | Any process that activates or increases the frequency, rate, or extent of an adaptive immune response. |
| positive regulation of cell-cell adhesion mediated by integrin | Any process that activates or increases the frequency, rate, or extent of cell-cell adhesion mediated by integrin. |
| positive regulation of cell-matrix adhesion | Any process that activates or increases the rate or extent of cell adhesion to an extracellular matrix. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of heterotypic cell-cell adhesion | Any process that activates or increases the frequency, rate, or extent of heterotypic cell-cell adhesion. |
| positive regulation of integrin activation | Any process that activates or increases the frequency, rate, or extent of integrin activation. |
| positive regulation of leukocyte cell-cell adhesion | Any process that activates or increases the frequency, rate or extent of leukocyte cell-cell adhesion. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQAAALPEEI | RWLLEDAEEF | LAEGLRNENL | SAVARDHRDH | ILRGFQQIKA | RYYWDFQPQG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GDIGQDSSDD | NHSGTLGLSL | TSDAPFLSDY | QDEGMEDIVK | GAQELDNVIK | QGYLEKKSKD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HSFFGSEWQK | RWCVVSRGLF | YYYANEKSKQ | PKGTFLIKGY | GVRMAPHLRR | DSKKESCFEL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TSQDRRSYEF | TATSPAEARD | WVDQISFLLK | DLSSLTIPYE | EDEEEEEKEE | TYDDIDGFDS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PSCGSQCRPT | ILPGSVGIKE | PTEEKEEEDI | YEVLPDEEHD | LEEDESGTRR | KGVDYASYYQ |
| 310 | 320 | 330 | 340 | 350 | |
| GLWDCHGDQP | DELSFQRGDL | IRILSKEYNM | YGWWVGELNS | LVGIVPKEYL | TTAFEVEER |