Q01518
PR
Gene name |
CAP1 (CAP) |
Protein name |
Adenylyl cyclase-associated protein 1 |
Names |
CAP 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10487 |
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 Q01518
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1K8F | X-ray | 280 A | A/B/C/D | 319-475 | PDB |
| AF-Q01518-F1 | Predicted | AlphaFoldDB |
351 variants for Q01518
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1296714558 CA339840251 |
4 | M>V | No |
ClinGen gnomAD |
|
|
CA339840318 rs1474886791 |
9 | E>G | No |
ClinGen TOPMed |
|
|
rs762570014 CA789058 |
10 | R>K | No |
ClinGen ExAC |
|
|
CA339840411 rs1346359807 |
16 | G>D | No |
ClinGen gnomAD |
|
|
rs373614963 CA789060 |
17 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA339840421 rs1274184745 |
17 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1037631007 CA20987023 |
21 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1037631007 CA339840466 |
21 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1237828988 CA339840506 |
24 | T>A | No |
ClinGen TOPMed |
|
|
rs1203466594 CA339840514 |
24 | T>I | No |
ClinGen TOPMed |
|
|
CA339840552 rs1202842945 |
27 | M>K | No |
ClinGen gnomAD |
|
|
rs200781445 CA789062 |
27 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200781445 CA789061 |
27 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs899110113 CA20987039 |
29 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA789063 rs753870354 |
29 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397410237 CA339840575 |
30 | G>V | No |
ClinGen gnomAD |
|
|
rs549356498 CA20987055 |
32 | A>V | No |
ClinGen 1000Genomes |
|
|
CA789066 rs750647846 |
34 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs11556943 CA20987068 |
35 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA339840608 rs11556943 |
35 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs758617435 CA789067 |
36 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770501155 CA789076 |
40 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1803247 CA20987467 |
43 | Y>H | No |
ClinGen Ensembl |
|
|
CA789077 rs775780344 |
44 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764478563 CA789079 |
45 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA789078 rs761056210 |
45 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339840684 rs1402567902 |
46 | A>T | No |
ClinGen gnomAD |
|
|
rs1389614137 CA339840689 |
46 | A>V | No |
ClinGen gnomAD |
|
|
CA789080 rs754325105 |
47 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA339840700 rs1326418327 |
48 | D>A | No |
ClinGen gnomAD |
|
|
CA789082 rs765357509 |
49 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA339840709 rs765357509 COSM374922 |
49 | S>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs758590288 CA789085 |
52 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA789086 rs780446876 |
53 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA789088 rs754788659 |
55 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA339840749 rs1446361963 |
57 | E>Q | No |
ClinGen gnomAD |
|
|
rs1570395261 CA339840756 |
58 | Y>D | No |
ClinGen Ensembl |
|
|
CA789089 rs781191134 |
59 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA339840798 rs1475440461 |
63 | K>I | No |
ClinGen gnomAD |
|
|
rs1186923863 CA339840813 |
65 | I>T | No |
ClinGen gnomAD |
|
|
CA789090 rs376589224 |
67 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1384266776 CA339840838 |
69 | V>A | No |
ClinGen gnomAD |
|
|
CA789092 rs529358841 |
69 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372747292 CA789093 |
72 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA789119 rs776999876 |
73 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA789118 rs771719133 |
73 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776999876 CA789120 |
73 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA789122 rs773562185 |
74 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA339840890 rs1456775673 |
75 | M>I | No |
ClinGen gnomAD |
|
|
CA339840898 rs1570401480 |
76 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 77 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA789124 rs766562094 |
78 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1169447541 CA339840913 |
79 | G>C | No |
ClinGen TOPMed |
|
|
CA789126 rs201066017 |
79 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339840921 rs1253625868 |
80 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA339840931 rs1454244116 |
81 | K>N | No |
ClinGen gnomAD |
|
|
rs767873454 CA20988792 |
84 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA789128 rs752494252 |
84 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 85 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA789129 rs376438354 |
85 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1239382038 CA339840968 |
88 | V>I | No |
ClinGen gnomAD |
|
|
CA789130 rs556423960 |
90 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1399169568 CA339840988 |
91 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA339840989 rs1399169568 |
91 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1327337136 CA339841010 |
94 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA789132 rs757256909 |
98 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA339841034 rs1386165987 |
98 | E>K | No |
ClinGen gnomAD |
|
|
CA20990452 rs200015259 |
100 | K>N | No |
ClinGen 1000Genomes |
|
|
CA789154 rs757874517 |
102 | S>C | No |
ClinGen ExAC |
|
|
CA789156 rs370896110 |
103 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA789155 rs560801542 |
103 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA789157 rs374583222 |
104 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA20990472 rs201936125 |
105 | L>S | No |
ClinGen 1000Genomes |
|
|
CA789159 rs749690336 |
106 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1418214914 CA339841105 |
107 | P>L | No |
ClinGen gnomAD |
|
|
rs771523959 CA789160 |
108 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1346412360 CA339841116 |
109 | S>L | No |
ClinGen gnomAD |
|
|
rs1297556692 CA339841146 |
113 | K>R | No |
ClinGen gnomAD |
|
|
rs1416460866 CA339841156 |
114 | E>D | No |
ClinGen gnomAD |
|
|
rs201825796 CA789163 |
115 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201825796 CA789164 |
115 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA789165 rs199832455 |
117 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1311774527 CA339841178 |
118 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768940914 CA789166 |
119 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs776364251 CA789167 |
120 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA789168 rs761630672 |
123 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA789169 rs765058253 |
123 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762240409 CA789170 |
124 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339841219 rs1557691195 |
125 | S>N | No |
ClinGen Ensembl |
|
|
rs1482852758 CA339841225 |
126 | K>E | No |
ClinGen TOPMed |
|
|
rs1254051252 CA339841228 |
126 | K>R | No |
ClinGen TOPMed |
|
|
rs763006739 CA339841235 |
127 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763006739 CA789171 |
127 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11556942 CA20990523 |
128 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 132 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA789172 rs200529137 |
132 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA789173 rs751093880 |
134 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1179698812 CA339841283 |
135 | S>G | No |
ClinGen gnomAD |
|
|
CA789174 rs754536463 COSM909369 |
135 | S>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA339841291 rs1343671278 |
136 | E>Q | No |
ClinGen TOPMed |
|
|
rs1157504716 CA339841321 |
140 | A>T | No |
ClinGen Ensembl |
|
|
rs1378467242 CA339841327 |
141 | L>V | No |
ClinGen gnomAD |
|
|
CA789177 rs201118252 |
144 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1016606724 CA20990603 |
146 | M>T | No |
ClinGen Ensembl |
|
|
CA339841358 rs1313266961 |
146 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 150 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1446252829 CA339841407 |
151 | G>V | No |
ClinGen gnomAD |
|
|
CA339841422 rs771769589 |
153 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759053794 CA789192 |
154 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA789194 rs752382496 |
161 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA789195 rs752382496 |
161 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216748130 CA339841484 |
162 | M>T | No |
ClinGen gnomAD |
|
|
rs765627251 CA789196 |
165 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1318164603 CA339841530 |
169 | L>V | No |
ClinGen gnomAD |
|
|
rs1197576100 CA339841536 |
170 | K>E | No |
ClinGen gnomAD |
|
|
CA339841554 rs1315409092 |
172 | Y>C | No |
ClinGen TOPMed |
|
|
CA789197 rs750834838 |
172 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA339841566 rs1229310063 |
174 | D>N | No |
ClinGen TOPMed |
|
|
rs1350251905 CA339841574 |
175 | V>M | No |
ClinGen TOPMed |
|
|
CA20991776 rs947103147 |
176 | D>G | No |
ClinGen Ensembl |
|
|
CA339841592 rs1263782306 |
176 | D>Y | No |
ClinGen gnomAD |
|
|
rs760349995 CA789218 |
177 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA20991794 rs1038748822 |
178 | K>T | No |
ClinGen Ensembl |
|
|
rs773633550 CA789220 |
180 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA789222 rs766704005 |
186 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA20991807 rs1051650938 |
188 | S>I | No |
ClinGen Ensembl |
|
|
CA789223 rs752095404 |
190 | W>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 191 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA789224 rs747213776 |
193 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1229425256 CA339841727 |
195 | A>S | No |
ClinGen TOPMed |
|
|
rs1315166635 CA339841734 |
196 | Y>C | No |
ClinGen gnomAD |
|
|
rs748248338 CA789226 |
196 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA789227 rs756288804 |
197 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1326812544 CA339841745 |
198 | K>E | No |
ClinGen TOPMed |
|
|
rs1311681794 CA339841756 |
199 | E>G | No |
ClinGen TOPMed |
|
|
CA789229 rs749520906 COSM909372 |
200 | F>L | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA20991859 rs886281404 |
200 | F>S | No |
ClinGen Ensembl |
|
|
rs777938795 CA789228 |
200 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs373360623 CA339841776 |
202 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373360623 CA20991860 |
202 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA789230 rs373360623 |
202 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA339841782 rs1224932165 |
203 | T>I | No |
ClinGen gnomAD |
|
|
CA789232 rs745747800 |
204 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA339841805 rs1214193406 |
207 | W>* | No |
ClinGen gnomAD |
|
|
CA789233 rs768763991 |
210 | T>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 212 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296134118 CA339841853 |
213 | V>M | No |
ClinGen gnomAD |
|
|
CA20992789 rs1008647780 |
214 | A>T | No |
ClinGen Ensembl |
|
|
CA339841865 rs1443909377 |
215 | K>E | No |
ClinGen gnomAD |
|
|
rs771217889 CA789254 |
219 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531815203 CA20992824 |
220 | L>P | No |
ClinGen 1000Genomes |
|
|
rs757421053 CA789255 |
221 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs778708666 CA789256 |
223 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA789259 rs200033319 |
226 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746996102 CA789260 |
226 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA789262 rs776071701 |
227 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_028419 CA789263 rs11207440 |
229 | C>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA339841946 rs11207440 |
229 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339841945 rs11207440 |
229 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA789264 rs769346303 |
230 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA789265 rs774735950 |
231 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1217609495 CA339841967 |
232 | P>L | No |
ClinGen gnomAD |
|
|
CA339841964 rs1171010251 |
232 | P>S | No |
ClinGen gnomAD |
|
|
rs1301147759 CA339841971 |
233 | P>R | No |
ClinGen gnomAD |
|
|
CA339841969 rs996214265 |
233 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs996214265 CA20992922 |
233 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA339841984 rs1557695124 |
235 | P>L | No |
ClinGen Ensembl |
|
|
CA789267 VAR_028420 rs6665926 |
236 | C>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA339841985 rs6665926 |
236 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339841986 rs6665926 |
236 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1298968023 CA339841991 |
236 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1218994556 CA339841997 |
237 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA339841994 rs1342092665 |
237 | P>S | No |
ClinGen gnomAD |
|
|
CA339841999 rs1277875240 |
238 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs753189337 CA789268 |
238 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA789269 rs761234131 |
240 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA789270 rs552626695 |
241 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA339842019 rs1488844900 |
242 | V>I | No |
ClinGen gnomAD |
|
|
rs757448303 CA789272 |
244 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA339842040 rs6665933 |
245 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs6665933 CA789274 VAR_028421 |
245 | I>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA339842039 rs6665933 |
245 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758249057 CA789275 |
246 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA789277 rs746939120 |
247 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs6665936 CA789276 VAR_028422 |
247 | C>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA339842048 rs6665936 |
247 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339842063 rs1557695388 |
249 | Y>* | No |
ClinGen Ensembl |
|
|
VAR_028423 rs6665937 CA789279 |
249 | Y>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA20993032 rs6665937 |
249 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs6665937 CA339842059 |
249 | Y>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747641596 CA789280 |
250 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772717776 CA789282 |
252 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA789283 rs748998066 |
253 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA339842090 rs1455556026 |
254 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA789284 rs575446557 |
254 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA789285 VAR_028424 rs6665944 |
256 | S>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA339842099 rs6665944 |
256 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs6665944 CA339842100 |
256 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA789288 rs375877766 |
259 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375877766 CA789287 |
259 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148169899 CA789289 |
259 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 261 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA20993094 rs961508788 |
262 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1422774855 CA339842147 |
263 | Q>R | No |
ClinGen gnomAD |
|
|
rs1420171567 CA339842156 |
265 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 265 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA789293 rs766211189 |
266 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1358349190 CA339842171 |
267 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1303692753 CA339842188 |
269 | H>R | No |
ClinGen gnomAD |
|
|
rs1449918683 CA339842185 |
269 | H>Y | No |
ClinGen gnomAD |
|
|
CA20994673 rs201835889 |
270 | A>V | No |
ClinGen gnomAD |
|
|
rs1478929988 CA339842567 |
273 | H>R | No |
ClinGen gnomAD |
|
|
CA339842571 rs1469718026 |
274 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1424144261 CA339842591 |
277 | D>N | No |
ClinGen gnomAD |
|
|
rs763209951 CA789311 |
277 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs766731752 CA789313 |
278 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766731752 CA789312 |
278 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339842599 rs1173140532 |
278 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 279 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs545043783 CA789314 |
279 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752571338 CA789316 |
280 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756078402 CA789317 |
281 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA789319 rs187715440 |
281 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA339842635 rs1365983059 |
283 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA339842655 rs1341762045 |
286 | L>P | No |
ClinGen TOPMed |
|
|
CA339842692 rs1453277243 |
291 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1270200660 CA339842687 |
291 | G>S | No |
ClinGen gnomAD |
|
|
CA339842697 rs1489811865 |
292 | P>L | No |
ClinGen gnomAD |
|
|
CA789324 rs781671919 |
292 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA20994779 rs11556939 |
293 | V>A | No |
ClinGen Ensembl |
|
|
rs748537032 CA789325 |
294 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339842704 rs748537032 |
294 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs35749351 CA789326 |
294 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1026261572 CA20994817 |
295 | S>R | No |
ClinGen TOPMed |
|
|
rs1416007237 CA339842716 |
296 | G>D | No |
ClinGen gnomAD |
|
|
CA789327 rs773379414 |
296 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 300 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201677980 CA789330 |
302 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1387167293 CA339842761 |
303 | P>R | No |
ClinGen TOPMed |
|
|
rs771182811 CA789332 |
303 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs774700059 CA789333 |
304 | K>N | No |
ClinGen ExAC |
|
|
rs1402318633 CA339842788 |
307 | T>I | No |
ClinGen gnomAD |
|
|
CA789336 rs567443790 |
307 | T>P | No |
ClinGen 1000Genomes |
|
|
rs752547029 CA339842792 |
308 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs752547029 CA789342 |
308 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA789343 rs752547029 |
308 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA789348 rs372682081 |
310 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA789346 rs753810830 |
310 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA789347 rs753810830 |
310 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA339842803 rs372682081 |
310 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267927468 CA339842810 |
311 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA789356 CA789355 rs781354043 |
312 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228368885 CA339842814 |
312 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs200369781 CA789357 |
313 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA789361 rs377554241 |
313 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM909375 CA789362 rs377554241 |
313 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774492587 CA789363 |
314 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA789364 rs759615015 |
315 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA339842833 rs1473200841 |
316 | K>R | No |
ClinGen gnomAD |
|
|
rs1351013890 CA339842851 |
318 | E>D | No |
ClinGen TOPMed |
|
|
CA339842857 rs1162734672 |
319 | P>L | No |
ClinGen gnomAD |
|
|
CA339842868 rs1443360200 |
321 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs772357523 CA789366 |
321 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1159650749 CA339842872 |
322 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1570433238 CA339842879 |
323 | E>G | No |
ClinGen Ensembl |
|
|
rs775104460 CA789367 |
323 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA339842906 rs1398507721 |
327 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA339842936 rs1315841040 |
331 | V>L | No |
ClinGen gnomAD |
|
|
CA339842955 rs1417778766 |
332 | E>A | No |
ClinGen gnomAD |
|
|
CA339842985 rs1273670998 |
336 | N>D | No |
ClinGen TOPMed |
|
|
rs371013336 CA339842992 |
337 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371013336 CA789394 |
337 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1378546360 CA339843000 |
338 | S>F | No |
ClinGen TOPMed |
|
|
CA339843007 rs1403427427 |
339 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765857415 CA789396 |
340 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA789399 rs764495393 |
341 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1331071403 CA339843026 |
342 | I>M | No |
ClinGen TOPMed |
|
|
rs1325313346 CA339843031 |
343 | E>G | No |
ClinGen gnomAD |
|
|
CA789401 rs757795266 |
346 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs779440857 CA789402 |
347 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA339843084 rs1320262312 |
351 | A>S | No |
ClinGen gnomAD |
|
|
rs375578395 CA789404 |
353 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780067266 CA789405 |
355 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA789406 rs747170667 |
357 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368794945 CA789407 |
358 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA789409 rs550460068 |
359 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339843143 rs1197710582 |
360 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA789414 rs774010811 |
362 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs774010811 CA789415 |
362 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1459998042 CA339843169 |
364 | K>E | No |
ClinGen gnomAD |
|
|
rs1233332314 CA339843173 |
364 | K>R | No |
ClinGen TOPMed |
|
|
rs367897327 CA789416 |
367 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA789418 rs758294764 |
370 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339843218 rs1300987792 |
371 | T>A | No |
ClinGen gnomAD |
|
|
CA789419 rs765576571 |
371 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 374 | N>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA20995922 rs1046107625 |
375 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA339843279 rs1256179212 |
378 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1256179212 CA339843278 |
378 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA339843296 rs781308548 CA789444 |
381 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339843308 rs1158025127 |
383 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA789447 rs777575243 |
384 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1480765543 CA339843323 |
385 | V>M | No |
ClinGen TOPMed |
|
|
rs1262554633 CA339843342 |
388 | I>V | No |
ClinGen TOPMed |
|
|
rs1450513855 CA339843360 |
390 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1570436937 CA339843386 |
394 | S>C | No |
ClinGen Ensembl |
|
|
CA339843393 rs1203523624 |
395 | K>E | No |
ClinGen TOPMed |
|
|
rs778968835 CA789450 |
396 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs751654430 CA339843400 |
396 | D>H | No |
ClinGen gnomAD |
|
|
rs751654430 CA20995971 |
396 | D>N | No |
ClinGen gnomAD |
|
|
rs1305229398 CA339843413 |
398 | K>E | No |
ClinGen gnomAD |
|
|
CA20995973 rs755605353 |
398 | K>T | No |
ClinGen gnomAD |
|
|
rs949187361 CA20996328 |
402 | M>I | No |
ClinGen TOPMed |
|
|
CA789471 rs778917622 |
403 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA789472 rs745735972 |
406 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA789473 rs199507631 |
407 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779569215 CA789474 |
408 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1422852636 CA339843700 |
409 | S>F | No |
ClinGen TOPMed |
|
|
rs746531952 CA789475 |
410 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs768256599 CA789476 |
411 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA789477 rs776128985 |
417 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA339843884 TCGA novel rs1570439020 |
419 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
| TCGA novel | 422 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs902382955 CA20996407 |
422 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA789479 rs771283475 |
423 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1172932063 CA339843992 |
424 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 425 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA339844016 rs1184493989 |
426 | D>Y | No |
ClinGen TOPMed |
|
|
rs1438869238 CA339844094 |
429 | I>M | No |
ClinGen TOPMed |
|
|
CA789480 rs774708884 |
430 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1169033776 CA339844157 |
433 | K>T | No |
ClinGen gnomAD |
|
|
rs374359120 CA789484 COSM1342588 |
436 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA339844254 rs1344499643 |
440 | L>F | No |
ClinGen gnomAD |
|
|
rs1291971984 CA339844302 |
443 | T>I | No |
ClinGen TOPMed |
|
|
CA339844329 rs1279666798 |
445 | G>D | No |
ClinGen gnomAD |
|
|
rs781552745 CA789487 |
446 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339845004 rs1322613697 |
449 | N>K | No |
ClinGen TOPMed |
|
|
CA339845034 rs1261375137 |
451 | F>C | No |
ClinGen gnomAD |
|
|
rs1446585356 CA339845025 |
451 | F>L | No |
ClinGen gnomAD |
|
|
CA339845053 rs1306706954 |
453 | V>I | No |
ClinGen TOPMed |
|
|
rs1447619450 CA339845089 |
456 | Q>E | No |
ClinGen gnomAD |
|
|
rs765589216 CA789511 |
458 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA339845193 COSM1342590 rs1195478791 |
463 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA789514 rs766258784 |
467 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1385237929 CA339845239 |
469 | T>R | No |
ClinGen gnomAD |
|
|
CA339845253 rs1315643445 |
471 | T>I | No |
ClinGen gnomAD |
|
|
rs752232856 CA789518 |
472 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA339845262 rs1363166533 |
473 | I>V | No |
ClinGen TOPMed |
|
|
CA789519 rs551342839 |
474 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA339845276 rs1380408894 |
475 | G>E | No |
ClinGen gnomAD |
No associated diseases with Q01518
3 regional properties for Q01518
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Calreticulin/calnexin, conserved site | 153 - 168 | IPR018124-1 |
| conserved_site | Calreticulin/calnexin, conserved site | 187 - 195 | IPR018124-2 |
| conserved_site | Calreticulin/calnexin, conserved site | 331 - 343 | IPR018124-3 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| azurophil granule lumen | The volume enclosed by the membrane of an azurophil granule, a primary lysosomal granule found in neutrophil granulocytes that contains a wide range of hydrolytic enzymes and is released into the extracellular fluid. |
| cortical actin cytoskeleton | The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| 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 binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| adenylate cyclase binding | Binding to an adenylate cyclase. |
9 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. |
| activation of adenylate cyclase activity | Any process that initiates the activity of the inactive enzyme adenylate cyclase. |
| ameboidal-type cell migration | Cell migration that is accomplished by extension and retraction of a pseudopodium. |
| cAMP-mediated signaling | Any intracellular signal transduction in which the signal is passed on within the cell via cyclic AMP (cAMP). Includes production of cAMP, and downstream effectors that further transmit the signal within the cell. |
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| establishment or maintenance of cell polarity | Any cellular process that results in the specification, formation or maintenance of anisotropic intracellular organization or cell growth patterns. |
| receptor-mediated endocytosis | An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. |
| regulation of adenylate cyclase activity | Any process that modulates the frequency, rate or extent of adenylate cyclase activity. |
| 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. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADMQNLVER | LERAVGRLEA | VSHTSDMHRG | YADSPSKAGA | APYVQAFDSL | LAGPVAEYLK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ISKEIGGDVQ | KHAEMVHTGL | KLERALLVTA | SQCQQPAENK | LSDLLAPISE | QIKEVITFRE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KNRGSKLFNH | LSAVSESIQA | LGWVAMAPKP | GPYVKEMNDA | AMFYTNRVLK | EYKDVDKKHV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DWVKAYLSIW | TELQAYIKEF | HTTGLAWSKT | GPVAKELSGL | PSGPSAGSCP | PPPPPCPPPP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PVSTISCSYE | SASRSSLFAQ | INQGESITHA | LKHVSDDMKT | HKNPALKAQS | GPVRSGPKPF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SAPKPQTSPS | PKRATKKEPA | VLELEGKKWR | VENQENVSNL | VIEDTELKQV | AYIYKCVNTT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LQIKGKINSI | TVDNCKKLGL | VFDDVVGIVE | IINSKDVKVQ | VMGKVPTISI | NKTDGCHAYL |
| 430 | 440 | 450 | 460 | 470 | |
| SKNSLDCEIV | SAKSSEMNVL | IPTEGGDFNE | FPVPEQFKTL | WNGQKLVTTV | TEIAG |