P55285
PR
Gene name |
CDH6 |
Protein name |
Cadherin-6 |
Names |
Vascular endothelial cadherin, VE-cadherin, Kidney cadherin, K-cadherin |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1004 |
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 P55285
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5VEB | X-ray | 234 A | X/Y | 490-608 | PDB |
| AF-P55285-F1 | Predicted | AlphaFoldDB |
514 variants for P55285
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs940068893 CA116706419 |
2 | R>K | No |
ClinGen Ensembl |
|
|
rs974130351 CA116706420 |
3 | T>I | No |
ClinGen gnomAD |
|
|
rs537863981 CA3216473 |
3 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3216474 rs561951224 |
5 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761843796 CA3216475 |
5 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359457192 rs1335576092 |
7 | F>I | No |
ClinGen gnomAD |
|
|
rs1319859948 CA359457204 |
8 | L>F | No |
ClinGen gnomAD |
|
|
rs758095623 CA3216478 |
10 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1579865900 CA359457215 |
11 | F>I | No |
ClinGen Ensembl |
|
|
rs1322373527 CA359457230 |
12 | W>C | No |
ClinGen gnomAD |
|
|
rs1266737695 CA359457271 |
18 | P>L | No |
ClinGen TOPMed |
|
|
rs200308506 CA3216480 |
19 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359457274 rs1335525028 |
19 | T>N | No |
ClinGen TOPMed |
|
|
CA359457297 rs1488096049 |
23 | P>S | No |
ClinGen gnomAD |
|
|
rs1194759197 CA359457304 |
24 | L>P | No |
ClinGen gnomAD |
|
|
CA3216481 rs754385058 |
25 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1474458057 CA359457324 |
27 | R>S | No |
ClinGen gnomAD |
|
|
rs1163151783 CA359457327 |
28 | T>A | No |
ClinGen gnomAD |
|
|
rs1405428268 CA359457335 |
29 | S>N | No |
ClinGen gnomAD |
|
|
rs1226816239 CA359457340 |
30 | G>S | No |
ClinGen TOPMed |
|
|
CA359457347 rs1364264468 |
31 | F>L | No |
ClinGen TOPMed |
|
|
CA3216483 rs749715359 |
32 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs373660848 CA3216482 |
32 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757802150 CA3216484 |
33 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA3216485 rs188745311 |
34 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA116706421 rs368126816 |
36 | R>K | No |
ClinGen ESP |
|
|
rs149686511 CA3216486 |
38 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3216487 rs772276938 |
39 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747260776 CA3216489 |
40 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216490 rs768577996 |
40 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776797071 CA3216491 |
43 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA359457425 rs1441042511 |
44 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 45 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359457452 rs1393092498 |
47 | E>G | No |
ClinGen TOPMed |
|
|
rs1238494046 CA359457456 |
48 | L>M | No |
ClinGen gnomAD |
|
|
CA359457471 rs1474061884 |
50 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773139830 CA3216494 |
50 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3216496 rs540475400 |
56 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359457569 rs1579866117 |
63 | L>R | No |
ClinGen Ensembl |
|
|
rs759260938 CA3216498 |
63 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1333284532 CA359457583 |
65 | E>A | No |
ClinGen gnomAD |
|
|
rs766885014 CA3216499 |
67 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 68 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216502 rs779462305 |
70 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3216501 rs370500416 |
70 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1579866157 CA359457619 |
71 | Y>H | No |
ClinGen Ensembl |
|
|
rs373902933 CA3216503 |
72 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA116709288 rs1024779985 |
78 | H>R | No |
ClinGen TOPMed |
|
|
rs1466105916 CA359457699 |
79 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1176324825 CA359457709 |
80 | D>E | No |
ClinGen TOPMed |
|
|
CA359457707 rs1360721590 |
80 | D>G | No |
ClinGen TOPMed |
|
|
CA359457725 rs200621634 |
82 | D>E | No |
ClinGen Ensembl |
|
|
CA3216532 rs777479833 |
83 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 84 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359457736 rs1388640262 |
84 | G>E | No |
ClinGen gnomAD |
|
|
CA3216534 rs202108700 |
88 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359457770 rs1466822299 |
89 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs745739883 CA3216535 |
93 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs771610848 CA3216536 |
96 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA116709290 rs865858310 |
98 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1561061798 CA359457829 |
99 | D>H | No |
ClinGen Ensembl |
|
|
CA116709292 rs867793066 |
105 | E>K | No |
ClinGen Ensembl |
|
|
rs1221032564 CA359457901 |
109 | D>N | No |
ClinGen gnomAD |
|
|
rs760353004 CA3216538 |
110 | I>T | No |
ClinGen ExAC |
|
|
rs763546406 CA3216539 CA359457919 |
111 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA116709293 rs866421666 |
113 | T>I | No |
ClinGen Ensembl |
|
|
rs1561061837 CA359457941 |
115 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs776168857 CA3216540 |
115 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA359457978 rs1208781949 |
120 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359457994 rs1267537646 |
122 | P>L | No |
ClinGen gnomAD |
|
|
CA359457991 rs1479861526 |
122 | P>S | No |
ClinGen TOPMed |
|
|
rs201394958 CA3216543 |
123 | V>I | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA359458009 rs1278869560 |
125 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1478053605 CA359458022 |
127 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs767781956 CA3216545 |
127 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267600598 CA116709295 |
129 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA359458035 rs1366714281 |
129 | Q>R | No |
ClinGen gnomAD |
|
|
rs752924110 CA3216546 |
130 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1222068098 CA359458048 |
131 | I>M | No |
ClinGen TOPMed |
|
|
CA116709296 rs989464424 |
131 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA359458053 rs1381001285 |
132 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 135 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367612237 CA359458075 |
135 | T>R | No |
ClinGen gnomAD |
|
|
rs756424012 CA3216547 |
137 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs150705645 CA116709298 |
138 | P>S | No |
ClinGen 1000Genomes |
|
|
CA3216549 rs575697118 |
139 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 141 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216550 rs757135861 |
141 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3216551 rs778966287 |
142 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867214562 CA116709300 |
144 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 149 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213978859 CA359458220 |
156 | E>G | No |
ClinGen gnomAD |
|
|
rs868593505 CA116709301 |
157 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 157 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216553 rs771832520 |
160 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs775169910 CA3216554 |
160 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs746643442 CA3216555 |
163 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA359458270 rs1423179264 |
164 | Y>H | No |
ClinGen gnomAD |
|
|
CA3216556 rs768339091 |
164 | Y>S | No |
ClinGen ExAC |
|
|
CA3216558 rs761373211 |
165 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3216557 rs76158490 |
165 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1437963971 CA359458282 |
166 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 169 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201836463 CA116709304 |
171 | M>L | No |
ClinGen Ensembl |
|
|
rs774858398 CA3216560 |
171 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3216561 rs759996870 |
173 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA359458332 rs1301461631 |
174 | V>I | No |
ClinGen gnomAD |
|
|
CA3216577 rs138413552 |
175 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359458362 rs1488208912 |
177 | F>I | No |
ClinGen TOPMed |
|
|
rs967915329 CA116709622 |
178 | V>F | No |
ClinGen Ensembl |
|
|
CA3216579 rs772493001 |
179 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1284134859 CA359458384 |
180 | Q>R | No |
ClinGen TOPMed |
|
|
rs775990314 CA3216580 |
181 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216582 rs764565018 COSM1436976 |
184 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3216585 rs765337202 |
186 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 186 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216586 rs750510202 |
187 | D>N | No |
ClinGen ExAC |
|
|
rs1267022011 CA359458449 |
190 | T>I | No |
ClinGen gnomAD |
|
|
CA359458459 rs1278812408 |
192 | G>R | No |
ClinGen TOPMed |
|
|
CA3216587 rs758352401 |
193 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1579894819 CA359458474 |
194 | S>N | No |
ClinGen Ensembl |
|
|
rs1422028155 CA359458497 |
197 | V>A | No |
ClinGen gnomAD |
|
|
rs1020267413 CA116709626 |
198 | V>I | No |
ClinGen TOPMed |
|
|
rs1579894836 CA359458504 |
199 | Y>H | No |
ClinGen Ensembl |
|
|
CA3216588 rs780026642 |
200 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs751514325 CA3216589 |
202 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359458566 rs1291427259 COSM1436977 |
208 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3216592 rs747791486 |
210 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs769376953 CA3216593 |
212 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA359458629 rs1312138821 |
215 | G>V | No |
ClinGen gnomAD |
|
|
CA359458657 rs1357035663 |
219 | T>I | No |
ClinGen Ensembl |
|
|
rs1284194975 CA359458676 |
222 | L>P | No |
ClinGen gnomAD |
|
|
rs748981543 CA3216614 |
223 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216615 rs756759386 |
224 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA116709801 rs929568330 |
224 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs371316016 CA3216616 |
225 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371316016 CA3216617 |
225 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3216618 rs769326582 COSM1671550 |
226 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA359458717 rs1444755727 |
229 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 229 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 232 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748520639 CA3216620 |
232 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748520639 CA3216621 |
232 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216622 rs773244513 |
233 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359458757 rs1304530296 |
234 | V>A | No |
ClinGen TOPMed |
|
|
rs1318731410 CA359458761 |
235 | V>A | No |
ClinGen gnomAD |
|
|
rs770944665 CA116709804 |
235 | V>L | No |
ClinGen TOPMed |
|
|
CA116709803 rs770944665 |
235 | V>M | No |
ClinGen TOPMed |
|
|
rs1346855200 CA359458768 |
236 | I>M | No |
ClinGen gnomAD |
|
|
rs529891401 CA116709806 |
236 | I>T | No |
ClinGen Ensembl |
|
|
CA359458807 rs1311287026 |
241 | M>I | No |
ClinGen TOPMed |
|
|
rs759433625 CA3216626 |
245 | M>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 250 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138288285 CA3216628 |
254 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 255 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359458894 rs1441092207 |
255 | N>S | No |
ClinGen gnomAD |
|
|
rs763953119 CA3216630 |
256 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184913833 CA359458909 |
257 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756992324 CA3216632 |
263 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM3615324 rs199901263 CA3216633 |
267 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA116709808 rs998808279 |
268 | F>L | No |
ClinGen TOPMed |
|
|
CA359459010 rs1189161761 |
271 | S>N | No |
ClinGen TOPMed |
|
|
rs1284362065 CA359459061 |
278 | P>S | No |
ClinGen gnomAD |
|
|
rs1347885754 CA359459073 |
280 | S>T | No |
ClinGen gnomAD |
|
|
CA116710070 rs767048739 |
282 | P>L | No |
ClinGen Ensembl |
|
|
rs142852451 CA3216657 |
283 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA116710071 rs868243500 |
284 | G>R | No |
ClinGen Ensembl |
|
|
rs1258025728 CA359459103 |
285 | T>K | No |
ClinGen gnomAD |
|
|
CA3216659 rs749724255 |
287 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359459135 rs1449523153 |
290 | I>T | No |
ClinGen gnomAD |
|
|
CA3216662 rs368214193 |
292 | A>G | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs146108866 CA116710072 |
293 | S>G | No |
ClinGen ESP |
|
|
CA359459156 rs371603645 |
293 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867559623 CA116710073 |
294 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs760508046 CA3216665 |
295 | A>T | No |
ClinGen ExAC |
|
|
CA359459168 rs1372489244 |
295 | A>V | No |
ClinGen gnomAD |
|
|
CA359459171 rs1462509051 |
296 | D>H | No |
ClinGen gnomAD |
|
|
CA359459184 rs1424287242 |
298 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3216668 rs761642274 |
300 | N>T | No |
ClinGen ExAC gnomAD |
|
|
COSM346184 CA359459223 rs1398613418 |
303 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA359459235 rs1278111158 |
305 | Y>H | No |
ClinGen gnomAD |
|
|
rs933352070 CA116710074 |
307 | I>S | No |
ClinGen Ensembl |
|
|
CA3216669 rs765126912 |
307 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537944995 CA3216670 |
308 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359459264 rs1271464790 |
309 | D>G | No |
ClinGen gnomAD |
|
|
COSM185316 rs751116558 CA3216673 |
310 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1233347244 CA359459313 |
316 | F>S | No |
ClinGen gnomAD |
|
|
COSM3941290 rs1561065299 CA359459325 |
318 | V>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA359459336 rs1214190966 |
319 | I>T | No |
ClinGen gnomAD |
|
|
CA116710075 rs1038281834 |
320 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3216677 rs757553513 |
321 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA359459353 rs1012908289 |
322 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA116710077 rs1012908289 |
322 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1211213609 CA359459357 |
323 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 325 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA116710079 rs146420959 |
328 | I>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1387380881 CA359459403 |
329 | I>M | No |
ClinGen gnomAD |
|
|
CA3216679 rs746042253 |
329 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs368076161 CA3216678 |
329 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216680 rs772387044 |
330 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1388320947 CA359459413 |
331 | V>A | No |
ClinGen TOPMed |
|
|
rs1386266247 CA359459419 |
332 | K>R | No |
ClinGen gnomAD |
|
|
CA3216702 rs781442002 |
334 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3216704 rs769888204 |
339 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 341 | K>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376456330 CA116710439 |
342 | V>M | No |
ClinGen Ensembl |
|
|
rs1220366611 CA359459510 |
343 | Y>C | No |
ClinGen TOPMed |
|
|
CA359459515 rs1456542943 |
344 | T>P | No |
ClinGen gnomAD |
|
|
CA359459520 rs1176808502 |
344 | T>S | No |
ClinGen gnomAD |
|
|
CA3216706 rs749169784 |
347 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1197203298 CA359459540 |
348 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1459556696 CA359459564 COSM449520 |
351 | N>S | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA116710440 rs866831026 |
352 | P>H | No |
ClinGen Ensembl |
|
|
CA116710442 rs867270893 |
354 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs377656449 CA116710441 |
354 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs770648463 CA3216707 |
355 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 355 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297633677 CA359459592 |
356 | P>T | No |
ClinGen TOPMed |
|
|
rs773989887 CA3216708 |
357 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773989887 CA116710444 |
357 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773989887 CA116710443 |
357 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572276397 CA116710445 |
363 | P>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs541190137 CA3216711 |
365 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762277349 CA3216712 |
366 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA359459672 rs1344748505 |
368 | A>G | No |
ClinGen gnomAD |
|
|
rs79909365 CA3216713 |
369 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 372 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543877386 CA3216715 |
373 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359459704 rs1175155640 |
374 | V>M | No |
ClinGen TOPMed |
|
|
rs1189792556 CA359459726 |
377 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs766683610 CA359459732 |
378 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766683610 CA3216716 |
378 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA116710447 rs925917397 |
387 | A>D | No |
ClinGen TOPMed |
|
|
rs891224548 CA116710446 |
387 | A>T | No |
ClinGen Ensembl |
|
|
rs1354633983 CA359459854 |
395 | D>G | No |
ClinGen TOPMed |
|
|
CA359459850 rs1169141882 |
395 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3216721 rs756103334 |
397 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs777800587 CA359459871 |
398 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777800587 CA3216722 |
398 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306227333 CA359459878 |
399 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 401 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359459900 rs1359782774 |
402 | I>T | No |
ClinGen gnomAD |
|
|
rs770722564 CA3216724 |
402 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs774040132 CA3216725 |
403 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs745514659 CA3216726 |
404 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3216728 rs774976574 |
405 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359459921 rs1490614348 |
406 | T>I | No |
ClinGen gnomAD |
|
|
CA359459934 rs1225191317 |
408 | Q>R | No |
ClinGen gnomAD |
|
|
CA3216729 rs200424636 |
410 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 410 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246396607 CA359459961 |
412 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA359459964 rs1485839003 |
412 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 417 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405495920 CA359321710 |
419 | Y>C | No |
ClinGen gnomAD |
|
|
rs771700462 CA3216746 |
422 | D>G | No |
ClinGen ExAC |
|
|
rs1159741435 CA359321853 |
423 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1450466651 CA359321877 |
424 | H>Q | No |
ClinGen gnomAD |
|
|
CA359321870 rs1229235329 |
424 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 426 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216748 rs746694742 |
432 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1425632196 CA359322014 |
432 | N>Y | No |
ClinGen gnomAD |
|
|
CA115739116 rs927543463 |
433 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 434 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216749 rs371463771 |
435 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs776053051 CA3216750 |
437 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216751 rs763482229 |
438 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs771406443 CA3216752 COSM1695529 |
439 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs752932258 CA3216756 COSM1436980 |
443 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3216758 rs764214082 |
444 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs957646178 CA115739231 |
445 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3216759 rs367617909 |
448 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs757216983 CA3216760 |
450 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA359322311 rs1175664024 |
452 | L>P | No |
ClinGen gnomAD |
|
|
CA359322322 rs1561071167 |
453 | W>* | No |
ClinGen Ensembl |
|
|
rs750364235 CA3216762 |
453 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs138335545 CA3216763 |
457 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359322417 rs1190792875 |
459 | I>L | No |
ClinGen TOPMed |
|
|
rs746641388 CA3216765 |
461 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3216786 rs755543546 |
465 | N>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 466 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 466 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359322720 rs1214771732 |
467 | K>M | No |
ClinGen gnomAD |
|
|
rs369010714 CA3216787 |
469 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA115741188 rs570422641 |
471 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA359322746 rs570422641 |
471 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs150163280 CA3216789 |
471 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA359322749 rs1453291974 |
472 | V>I | No |
ClinGen gnomAD |
|
|
CA3216790 rs372070312 |
473 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs995046641 CA115741198 |
476 | I>V | No |
ClinGen TOPMed |
|
|
rs1372558703 CA359322816 |
482 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769078251 CA3216792 |
485 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 487 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1424356023 CA359322864 |
489 | A>S | No |
ClinGen gnomAD |
|
|
rs1304154584 CA359322868 |
489 | A>V | No |
ClinGen gnomAD |
|
|
rs776675807 CA3216793 |
490 | E>A | No |
ClinGen ExAC gnomAD |
|
|
COSM3776618 CA359322869 rs1579912934 |
490 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs765207601 CA3216795 |
492 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs376956976 CA3216796 |
493 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325334125 CA359322893 |
493 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA115741218 rs866280294 |
494 | T>I | No |
ClinGen Ensembl |
|
|
CA3216797 rs762869633 |
495 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA3216798 rs369166972 |
496 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1244927551 CA359322910 |
496 | V>I | No |
ClinGen gnomAD |
|
|
CA359322918 rs1388026051 |
497 | C>Y | No |
ClinGen TOPMed |
|
|
rs1447589910 CA359322961 |
503 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3216800 rs754659106 |
503 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216801 rs767380763 |
504 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1190610829 CA359322966 |
504 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs770999293 CA359322986 |
505 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2302904 CA359323013 |
509 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767199387 CA3216821 |
512 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3216822 rs752579933 |
514 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM420740 rs1023796106 CA115741917 |
515 | D>H | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1579913920 CA359323061 |
516 | D>A | No |
ClinGen Ensembl |
|
|
CA3216823 rs370281530 |
516 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 517 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 518 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303000315 CA359323082 |
519 | S>G | No |
ClinGen gnomAD |
|
|
CA3216824 rs763898692 |
519 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403925966 CA359323084 |
519 | S>T | No |
ClinGen gnomAD |
|
|
CA115741930 rs202247793 |
524 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1579913974 CA359323151 |
528 | A>V | No |
ClinGen Ensembl |
|
|
rs778598918 CA3216828 |
530 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs540101941 CA3216829 |
531 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs182435835 CA3216830 |
532 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1195548075 CA359323228 |
540 | Q>R | No |
ClinGen gnomAD |
|
|
rs748601134 CA3216832 |
541 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1436981 rs955262652 CA115742288 |
546 | T>M | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA3216851 rs753145442 |
549 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1352220963 CA359323317 |
551 | T>N | No |
ClinGen TOPMed |
|
|
CA3216852 rs756427783 |
552 | R>G | No |
ClinGen ExAC |
|
|
rs1298540016 CA359323328 |
553 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 554 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216854 rs778129563 |
556 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA359323353 rs1322751917 COSM243604 |
557 | N>D | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3216857 rs201909616 |
559 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216858 rs375392354 |
560 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA115742318 rs940708326 |
563 | T>A | No |
ClinGen Ensembl |
|
|
CA3216860 rs775431380 |
569 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572010071 CA3216861 |
571 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359323450 rs572010071 |
571 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3216862 rs768523224 |
573 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359323466 rs1561073119 |
573 | N>S | No |
ClinGen Ensembl |
|
|
CA359323491 rs1483015404 |
577 | V>I | No |
ClinGen TOPMed |
|
|
rs1405810414 CA359323500 |
578 | Q>P | No |
ClinGen gnomAD |
|
|
rs527986715 CA3216864 |
583 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3216865 rs764997653 |
585 | T>A | No |
ClinGen ExAC |
|
|
rs762454450 CA3216867 |
587 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA115742405 rs866683024 |
587 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3216868 rs765834938 |
588 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561073184 CA359323603 |
594 | H>Y | No |
ClinGen Ensembl |
|
|
CA3216873 rs757460983 |
596 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216874 rs779139243 |
597 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA115742463 rs1003725966 |
598 | Q>K | No |
ClinGen Ensembl |
|
|
rs1056656884 CA115742472 |
599 | S>Y | No |
ClinGen Ensembl |
|
|
CA115742507 rs2229575 |
601 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1465898486 CA359323662 |
602 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359323676 rs1335925067 |
604 | A>V | No |
ClinGen TOPMed |
|
|
rs764002953 CA3216876 |
605 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216878 rs746910508 |
606 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369311510 CA3216877 |
606 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768778721 COSM449521 CA3216879 |
609 | T>M | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs776553919 CA3216880 |
611 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA115742527 rs991982452 |
611 | L>P | No |
ClinGen TOPMed |
|
|
rs1022421171 CA115742528 |
613 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1022421171 CA359323726 |
613 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs772876458 CA3216883 |
614 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs762533155 CA3216884 |
615 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA115742585 rs372531176 |
618 | A>G | No |
ClinGen Ensembl |
|
|
rs773894273 CA3216886 |
620 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA359323781 rs1229522926 |
623 | I>F | No |
ClinGen gnomAD |
|
|
CA3216887 rs761168839 |
623 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3216889 rs754359810 |
624 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA359323785 rs754359810 |
624 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA359323805 rs1171653823 |
627 | L>P | No |
ClinGen gnomAD |
|
|
CA359324059 rs1453346515 |
629 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1446528180 CA359324067 |
630 | V>A | No |
ClinGen gnomAD |
|
|
rs1384239775 CA359324064 |
630 | V>L | No |
ClinGen Ensembl |
|
|
CA115746696 rs185351199 |
632 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3216920 rs185351199 |
632 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1030380821 CA115746698 |
633 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752655489 CA359324085 |
634 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216921 rs752655489 |
634 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756042612 CA3216922 |
634 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA359324099 rs1353341271 |
636 | L>P | No |
ClinGen TOPMed |
|
|
rs1419999233 CA359324100 |
637 | R>G | No |
ClinGen TOPMed |
|
|
CA115746732 rs866930126 |
637 | R>K | No |
ClinGen gnomAD |
|
|
CA359324120 rs1317991132 |
640 | R>G | No |
ClinGen gnomAD |
|
|
rs777622672 COSM1436983 CA359324122 |
640 | R>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA3216923 COSM139572 rs777622672 |
640 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
rs983567906 CA115746740 |
641 | K>E | No |
ClinGen Ensembl |
|
|
rs749097970 CA3216924 |
641 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs778474741 CA3216926 |
643 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA3216929 rs771522599 CA3216928 |
643 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 643 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1561075636 | 643 | E>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216927 rs745552497 |
643 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA359324141 rs762352264 |
644 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA359324145 rs1358427224 |
644 | P>L | No |
ClinGen gnomAD |
|
|
CA3216930 rs762352264 |
644 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1267561049 CA359324150 |
645 | L>F | No |
ClinGen gnomAD |
|
|
CA3216931 rs770261779 |
645 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA359324184 rs1416541595 |
650 | E>G | No |
ClinGen TOPMed |
|
|
rs1465447032 CA359324190 |
651 | D>Y | No |
ClinGen gnomAD |
|
|
CA359324205 rs1241538670 |
653 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359324210 rs1166294441 |
654 | D>N | No |
ClinGen TOPMed |
|
|
CA359324231 rs1423541235 |
656 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA359324256 rs1370662646 |
660 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA359324255 rs1370662646 |
660 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs865986031 CA115746804 |
660 | N>T | No |
ClinGen Ensembl |
|
|
rs763159274 CA3216933 COSM1311087 |
661 | D>H | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA359324263 rs763159274 |
661 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191144517 CA115746845 |
666 | E>V | No |
ClinGen 1000Genomes |
|
|
rs1579918753 CA359324320 |
669 | T>P | No |
ClinGen Ensembl |
|
|
rs1323585221 CA359324325 |
670 | Q>E | No |
ClinGen TOPMed |
|
| TCGA novel | 670 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359324332 rs1313126729 |
671 | A>S | No |
ClinGen gnomAD |
|
|
CA359324347 rs1226484155 |
673 | D>H | No |
ClinGen gnomAD |
|
|
CA359324360 rs763884564 |
674 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA359324362 COSM1436984 rs1230322802 |
675 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA359324367 rs1579918817 |
676 | T>P | No |
ClinGen Ensembl |
|
|
CA359324395 rs1332403499 |
680 | P>A | No |
ClinGen TOPMed |
|
|
CA3216944 rs745499457 |
681 | E>G | No |
ClinGen ExAC |
|
|
rs758088936 CA3216945 |
683 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216947 rs746445760 |
684 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3216946 rs779600261 |
684 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs768215600 CA3216948 |
685 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3216950 rs150884160 |
686 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286792211 CA359324450 |
688 | L>* | No |
ClinGen TOPMed |
|
|
CA359324452 rs1437908642 |
688 | L>F | No |
ClinGen TOPMed |
|
|
rs771395680 CA3216951 COSM1436985 |
689 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs138589959 CA3216953 |
689 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs138589959 COSM108593 CA3216952 |
689 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 690 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs931815834 CA115746931 |
691 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1046325497 CA115746979 |
692 | I>T | No |
ClinGen gnomAD |
|
|
CA3216954 rs767912251 |
692 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 693 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359324485 rs1444937984 |
694 | P>L | No |
ClinGen gnomAD |
|
|
COSM185327 CA359324488 rs1230259081 |
695 | E>K | lung upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 696 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM109450 rs149310360 CA115747008 |
697 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs753670231 CA3216958 |
700 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA3216959 COSM1067213 rs757234769 |
701 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM77453 CA115747047 rs868021169 |
707 | R>C | ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1234214570 CA359324558 |
707 | R>H | No |
ClinGen gnomAD |
|
|
rs891871146 CA115747086 |
710 | T>A | No |
ClinGen Ensembl |
|
|
CA359324582 COSM592199 rs1253119234 |
711 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM3941291 rs1484306806 CA359324592 |
712 | V>F | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1561075888 CA359324593 |
712 | V>G | No |
ClinGen Ensembl |
|
|
rs1484306806 CA359324590 |
712 | V>I | No |
ClinGen gnomAD |
|
|
CA3216963 rs138302316 |
714 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1043224005 CA115747099 |
715 | F>L | No |
ClinGen Ensembl |
|
|
rs1489497034 CA359324618 |
716 | I>V | No |
ClinGen TOPMed |
|
|
CA115747104 rs779504531 |
719 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379020867 CA359324679 |
724 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3216966 rs754397330 |
725 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA115747145 rs981249956 |
726 | D>A | No |
ClinGen Ensembl |
|
|
CA115747149 rs553343343 |
727 | P>A | No |
ClinGen Ensembl |
|
|
CA3216967 rs780799551 |
727 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1411561497 CA359324706 |
728 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1579919071 CA359324701 |
728 | T>P | No |
ClinGen Ensembl |
|
|
CA3216968 rs749778235 |
729 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359324716 rs1387428762 |
730 | P>L | No |
ClinGen gnomAD |
|
|
CA359324713 rs1366986599 |
730 | P>T | No |
ClinGen gnomAD |
|
|
rs746180154 CA3216971 |
736 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA359324757 rs1275773579 |
736 | A>V | No |
ClinGen gnomAD |
|
|
CA115747201 rs113381411 |
737 | T>A | No |
ClinGen Ensembl |
|
|
CA359324762 rs1344834071 |
737 | T>I | No |
ClinGen gnomAD |
|
|
rs778720220 CA115747209 |
738 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA3216974 rs760974233 |
739 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3216975 rs760974233 |
739 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1438205456 CA359324773 |
739 | A>V | No |
ClinGen gnomAD |
|
|
CA3216976 rs776813603 |
740 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761736994 CA3216977 |
742 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA359324790 rs1268970013 |
742 | G>R | No |
ClinGen gnomAD |
|
|
CA3216979 rs538483207 |
746 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3216980 rs538483207 |
746 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs558384221 CA115747298 |
747 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3216981 rs558384221 |
747 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1431465518 CA359324823 |
748 | D>G | No |
ClinGen gnomAD |
|
|
rs1168591480 CA359324894 |
759 | D>G | No |
ClinGen TOPMed |
|
|
CA3216985 rs752311105 |
762 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3216986 rs755701273 |
762 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 763 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3216987 rs779499267 |
763 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3216988 rs746411792 |
764 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs375594877 CA3216989 |
765 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359324970 rs1561076094 |
770 | W>R | No |
ClinGen Ensembl |
|
|
CA115747369 rs867047355 |
773 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1543328 rs1239863031 CA359324993 |
773 | R>Q | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA359324995 rs1196325208 |
774 | F>L | No |
ClinGen TOPMed |
|
|
CA359325003 rs1322888781 |
775 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3216990 rs780517244 |
775 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216991 rs369619521 |
776 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3216992 rs768990381 |
779 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761812675 CA3216994 |
780 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3216993 rs776681256 |
780 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs963081377 CA115747379 |
780 | M>V | No |
ClinGen Ensembl |
|
|
rs1476237333 CA359325054 |
782 | G>E | No |
ClinGen gnomAD |
|
|
rs773084225 CA3216996 |
783 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769891699 CA3216995 |
783 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762926673 CA3216998 |
785 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3216997 rs762926673 |
785 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459481437 CA359325080 |
786 | S>N | No |
ClinGen gnomAD |
|
|
rs1579919291 CA359325074 |
786 | S>R | No |
ClinGen Ensembl |
|
|
rs1166901173 CA359325092 |
787 | D>H | No |
ClinGen gnomAD |
|
|
CA3216999 rs751435139 |
789 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 790 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs988976389 CA115747452 |
790 | S>F | No |
ClinGen TOPMed gnomAD |
No associated diseases with P55285
8 regional properties for P55285
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cadherin, Y-type LIR-motif | 723 - 782 | IPR000233 |
| domain | Cadherin-like | 74 - 159 | IPR002126-1 |
| domain | Cadherin-like | 159 - 279 | IPR002126-2 |
| domain | Cadherin-like | 269 - 383 | IPR002126-3 |
| domain | Cadherin-like | 384 - 488 | IPR002126-4 |
| domain | Cadherin-like | 488 - 610 | IPR002126-5 |
| conserved_site | Cadherin conserved site | 256 - 266 | IPR020894-1 |
| conserved_site | Cadherin conserved site | 476 - 486 | IPR020894-2 |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| catenin complex | Complex of peripheral cytoplasmic proteins (alpha-, beta- and gamma-catenin) that interact with the cytoplasmic region of uvomorulin/E-cadherin to connect it to the actin cytoskeleton. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| adherens junction organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments. |
| calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules | The attachment of one cell to another cell via adhesion molecules that require the presence of calcium for the interaction. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| cell-cell adhesion via plasma-membrane adhesion molecules | The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. |
| cell-cell junction assembly | The aggregation, arrangement and bonding together of a set of components to form a junction between cells. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| Notch signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to the receptor Notch on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
41 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| P79995 | CDH10 | Cadherin-10 | Gallus gallus (Chicken) | PR |
| Q8UVJ7 | CDHR1 | Cadherin-related family member 1 | Gallus gallus (Chicken) | PR |
| Q5DRC8 | PCDHB6 | Protocadherin beta-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE4 | PCDHA8 | Protocadherin alpha-8 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE6 | PCDHA6 | Protocadherin alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRF0 | PCDHA2 | Protocadherin alpha-2 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE7 | PCDHA5 | Protocadherin alpha-5 | Pan troglodytes (Chimpanzee) | PR |
| Q9VJB6 | CadN2 | Putative neural-cadherin 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| Q6ZTQ4 | CDHR3 | Cadherin-related family member 3 | Homo sapiens (Human) | PR |
| P12830 | CDH1 | Cadherin-1 | Homo sapiens (Human) | PR |
| Q9H159 | CDH19 | Cadherin-19 | Homo sapiens (Human) | PR |
| P19022 | CDH2 | Cadherin-2 | Homo sapiens (Human) | PR |
| Q9ULB4 | CDH9 | Cadherin-9 | Homo sapiens (Human) | PR |
| Q9Y6N8 | CDH10 | Cadherin-10 | Homo sapiens (Human) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P15116 | Cdh2 | Cadherin-2 | Mus musculus (Mouse) | PR |
| P70407 | Cdh9 | Cadherin-9 | Mus musculus (Mouse) | PR |
| P70408 | Cdh10 | Cadherin-10 | Mus musculus (Mouse) | PR |
| Q8VHF2 | Cdhr5 | Cadherin-related family member 5 | Mus musculus (Mouse) | PR |
| P97326 | Cdh6 | Cadherin-6 | Mus musculus (Mouse) | PR |
| Q9Z1Y3 | Cdh2 | Cadherin-2 | Rattus norvegicus (Rat) | PR |
| Q767I8 | Pcdha4 | Protocadherin alpha-4 | Rattus norvegicus (Rat) | PR |
| P55280 | Cdh6 | Cadherin-6 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRTYRYFLLL | FWVGQPYPTL | STPLSKRTSG | FPAKKRALEL | SGNSKNELNR | SKRSWMWNQF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FLLEEYTGSD | YQYVGKLHSD | QDRGDGSLKY | ILSGDGAGDL | FIINENTGDI | QATKRLDREE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KPVYILRAQA | INRRTGRPVE | PESEFIIKIH | DINDNEPIFT | KEVYTATVPE | MSDVGTFVVQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VTATDADDPT | YGNSAKVVYS | ILQGQPYFSV | ESETGIIKTA | LLNMDRENRE | QYQVVIQAKD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MGGQMGGLSG | TTTVNITLTD | VNDNPPRFPQ | STYQFKTPES | SPPGTPIGRI | KASDADVGEN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AEIEYSITDG | EGLDMFDVIT | DQETQEGIIT | VKKLLDFEKK | KVYTLKVEAS | NPYVEPRFLY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LGPFKDSATV | RIVVEDVDEP | PVFSKLAYIL | QIREDAQINT | TIGSVTAQDP | DAARNPVKYS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VDRHTDMDRI | FNIDSGNGSI | FTSKLLDRET | LLWHNITVIA | TEINNPKQSS | RVPLYIKVLD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VNDNAPEFAE | FYETFVCEKA | KADQLIQTLH | AVDKDDPYSG | HQFSFSLAPE | AASGSNFTIQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DNKDNTAGIL | TRKNGYNRHE | MSTYLLPVVI | SDNDYPVQSS | TGTVTVRVCA | CDHHGNMQSC |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HAEALIHPTG | LSTGALVAIL | LCIVILLVTV | VLFAALRRQR | KKEPLIISKE | DIRDNIVSYN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DEGGGEEDTQ | AFDIGTLRNP | EAIEDNKLRR | DIVPEALFLP | RRTPTARDNT | DVRDFINQRL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KENDTDPTAP | PYDSLATYAY | EGTGSVADSL | SSLESVTTDA | DQDYDYLSDW | GPRFKKLADM |
| YGGVDSDKDS |