Q86V40
Gene name |
TRABD2A (C2orf89, TIKI1) |
Protein name |
Metalloprotease TIKI1 |
Names |
TRAB domain-containing protein 2A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:129293 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q86V40
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86V40-F1 | Predicted | AlphaFoldDB |
462 variants for Q86V40
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1738276 rs752929545 |
4 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347451290 rs1430944901 |
6 | W>S | No |
ClinGen gnomAD |
|
|
rs1322231811 CA347451264 |
7 | F>L | No |
ClinGen TOPMed |
|
|
rs1362772331 CA347451211 |
10 | Q>K | No |
ClinGen TOPMed |
|
|
CA347451167 rs1199631258 |
12 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs778888179 CA1738275 |
14 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1313417996 CA347451123 |
15 | L>P | No |
ClinGen TOPMed |
|
|
rs750372380 CA347451085 |
17 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738273 rs750372380 |
17 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347451042 rs1465031796 |
19 | A>V | No |
ClinGen TOPMed |
|
|
CA51664209 rs1054146476 |
20 | A>D | No |
ClinGen Ensembl |
|
|
rs751405880 CA1738270 |
21 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1264171835 CA347451005 |
22 | R>Q | No |
ClinGen gnomAD |
|
|
rs1223096244 CA347450999 |
23 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1223096244 CA347451000 |
23 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1738269 rs763918643 |
24 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA51664204 rs935802556 CA347450974 |
24 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA347450932 rs1432836087 |
26 | P>S | No |
ClinGen gnomAD |
|
|
CA1738265 rs759052762 |
27 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51664194 rs759052762 |
27 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738266 rs764670036 |
27 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA347450901 rs1171899465 |
28 | T>A | No |
ClinGen gnomAD |
|
|
CA347450849 rs1428637225 |
30 | N>I | No |
ClinGen gnomAD |
|
|
rs747492693 CA1738262 |
31 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA347450819 rs1187175578 |
32 | E>G | No |
ClinGen gnomAD |
|
|
CA347450826 rs1431974747 |
32 | E>K | No |
ClinGen TOPMed |
|
|
CA347450811 rs1463078864 |
33 | L>V | No |
ClinGen gnomAD |
|
|
CA1738261 rs567498576 |
34 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed |
|
| TCGA novel | 35 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1738259 rs748338540 |
36 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs765010091 CA1738248 |
38 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347448576 rs759252203 |
38 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372746235 CA347448555 |
39 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1738245 rs372746235 |
39 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1738246 rs372746235 |
39 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 45 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347448402 rs1472112782 |
47 | I>M | No |
ClinGen gnomAD |
|
|
CA51657973 rs965691003 |
48 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs773717756 CA1738243 |
48 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs773717756 CA347448390 |
48 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs772334677 CA1738242 |
49 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347448351 rs1249973107 |
49 | R>Q | No |
ClinGen gnomAD |
|
|
rs911621956 CA51657959 |
50 | D>E | No |
ClinGen TOPMed |
|
|
rs1224779099 CA347448340 |
50 | D>N | No |
ClinGen gnomAD |
|
|
CA347448307 rs1444424358 |
51 | P>L | No |
ClinGen TOPMed |
|
|
rs985937809 CA51657944 |
52 | P>S | No |
ClinGen Ensembl |
|
|
rs564057599 CA347448260 |
53 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1738241 rs564057599 |
53 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347448091 rs1334768912 |
59 | I>N | No |
ClinGen gnomAD |
|
|
CA1738239 rs768924111 |
59 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs749481202 COSM723041 CA1738238 COSM723042 |
60 | H>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA347448030 rs1345549040 |
61 | V>A | No |
ClinGen gnomAD |
|
|
rs746934612 CA1738235 |
62 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738236 rs746934612 |
62 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347448024 rs1301991772 |
62 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1301991772 CA347448028 |
62 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 63 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347448017 rs1159505639 |
63 | Y>D | No |
ClinGen gnomAD |
|
|
CA347447960 COSM443305 rs1201801674 COSM443306 |
65 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1023311 CA347447955 rs1480905437 COSM1023312 |
65 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA347447944 rs1196866588 |
66 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347447911 rs1449769112 |
67 | W>* | No |
ClinGen gnomAD |
|
|
rs375070443 CA1738230 |
72 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347447769 rs1212280502 |
73 | N>K | No |
ClinGen TOPMed |
|
|
rs1559098677 CA347447771 |
73 | N>S | No |
ClinGen Ensembl |
|
|
CA1738229 rs753504438 |
74 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 75 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347447733 rs1573954573 |
75 | K>R | No |
ClinGen Ensembl |
|
|
CA347447723 rs1273710658 |
76 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA347447645 rs1390762657 |
78 | F>L | No |
ClinGen gnomAD |
|
|
rs766012570 CA1738228 |
79 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1738227 rs760207228 |
80 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA347447581 rs1573954544 |
82 | S>R | No |
ClinGen Ensembl |
|
|
CA347447529 rs1386821649 |
84 | V>A | No |
ClinGen gnomAD |
|
|
rs1386821649 CA347447527 |
84 | V>G | No |
ClinGen gnomAD |
|
|
rs750901575 CA1738226 |
84 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 85 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51657878 rs868277440 |
90 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA51657867 rs956583702 |
93 | P>L | No |
ClinGen Ensembl |
|
|
CA347447245 rs1428913423 |
93 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA347447243 rs1428913423 |
93 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1738224 rs762214231 |
95 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573954490 CA347447192 |
95 | T>P | No |
ClinGen Ensembl |
|
|
rs768969052 CA1738222 |
96 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs372045788 CA1738220 |
97 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1738219 rs769865987 |
97 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA1738217 rs368828547 |
98 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1277559741 CA347447134 |
99 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA347447062 rs1216955994 |
101 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs772091944 CA1738216 |
103 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs748001081 CA1738215 |
104 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51657796 rs569958992 |
104 | M>R | No |
ClinGen Ensembl |
|
|
rs375938439 CA1738214 |
106 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347446844 rs1339076304 |
107 | Q>R | No |
ClinGen gnomAD |
|
|
rs1453882568 CA347446803 |
108 | G>D | No |
ClinGen gnomAD |
|
|
rs199658694 CA347446778 |
109 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1738212 rs199658694 |
109 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1738211 rs779788135 |
109 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA347446742 rs1420271707 |
110 | N>K | No |
ClinGen gnomAD |
|
|
CA347446719 rs1553515588 |
111 | L>P | No |
ClinGen Ensembl |
|
|
rs1318787466 CA347446681 |
112 | Q>H | No |
ClinGen TOPMed |
|
|
rs1388293888 CA347446655 |
114 | V>M | No |
ClinGen gnomAD |
|
|
CA51657762 rs1046215165 |
115 | L>F | No |
ClinGen gnomAD |
|
|
rs755718967 CA1738210 |
116 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1273035970 CA347446547 |
119 | I>S | No |
ClinGen gnomAD |
|
|
rs1439223480 CA347446563 |
119 | I>V | No |
ClinGen gnomAD |
|
|
rs1224866135 CA347446478 |
121 | C>S | No |
ClinGen TOPMed |
|
|
rs766915408 CA1738208 |
122 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738206 rs371865663 |
122 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1738207 rs371865663 |
122 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763234862 CA1738204 |
125 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763234862 CA347446028 |
125 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775825438 CA1738203 |
125 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1355388121 CA347445972 |
128 | E>A | No |
ClinGen gnomAD |
|
|
rs1481440828 CA347445943 |
129 | Y>F | No |
ClinGen TOPMed |
|
|
rs574481991 CA1738201 |
129 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347445845 rs1165330715 |
133 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1386812772 CA347445819 |
134 | M>I | No |
ClinGen TOPMed |
|
|
rs556202044 CA1738199 |
134 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1738198 rs770881112 |
136 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA347445764 rs1398787897 |
137 | W>* | No |
ClinGen TOPMed |
|
|
rs748143391 CA1738197 |
138 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA347445736 rs1297475504 |
139 | T>N | No |
ClinGen TOPMed |
|
|
rs778940251 CA1738196 |
140 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280743351 CA347445716 |
141 | D>G | No |
ClinGen TOPMed |
|
|
rs749163938 CA1738194 |
142 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738192 rs192920683 |
143 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347445685 rs192920683 |
143 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1863772 VAR_039920 CA1738191 |
143 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA1738193 rs192920683 |
143 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347445678 rs756663672 |
144 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738189 COSM1735514 COSM1735515 rs756663672 |
144 | G>S | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs377468049 CA1738188 |
145 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347445659 rs1225875558 |
145 | K>N | No |
ClinGen gnomAD |
|
|
CA51657580 rs953125551 |
146 | G>R | No |
ClinGen TOPMed |
|
|
CA347445613 CA1738185 rs371560834 |
148 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347445609 rs759830766 |
149 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738183 rs759830766 |
149 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1023307 COSM1023308 rs759830766 CA347445610 |
149 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 150 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347445570 rs1303867525 |
152 | L>F | No |
ClinGen gnomAD |
|
|
CA1738182 rs375570199 |
152 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347445530 rs1483160140 |
156 | I>V | No |
ClinGen gnomAD |
|
|
CA51657543 rs372546193 |
158 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs760608183 CA1738180 |
160 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1030921559 CA51657532 |
161 | E>G | No |
ClinGen Ensembl |
|
|
CA1738179 rs773422750 |
162 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51657515 rs369195191 |
162 | R>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA347445385 rs768774262 |
164 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1738178 rs768774262 |
164 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA1738176 CA347445377 rs775465259 |
164 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347445386 rs1239855507 |
164 | R>W | No |
ClinGen TOPMed |
|
|
CA1738174 rs745547340 |
166 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA347445359 rs1244364513 |
166 | V>I | No |
ClinGen TOPMed |
|
|
rs1573954078 CA347445299 |
168 | V>G | No |
ClinGen Ensembl |
|
|
CA51657463 rs913092601 |
168 | V>M | No |
ClinGen TOPMed |
|
|
rs1197700871 CA347445244 |
170 | L>F | No |
ClinGen TOPMed |
|
|
rs1197700871 CA347445249 |
170 | L>I | No |
ClinGen TOPMed |
|
|
rs1218370454 CA347445193 |
172 | V>I | No |
ClinGen gnomAD |
|
|
rs1483913476 CA347445145 |
173 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1267898861 CA347445100 |
175 | L>V | No |
ClinGen gnomAD |
|
|
CA347445060 rs1238239433 |
176 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA347444997 rs1283976196 |
180 | I>F | No |
ClinGen gnomAD |
|
|
rs1386320624 CA347444995 |
180 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs10221703 CA1738169 |
181 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1738168 rs753158730 |
182 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs373573108 COSM1409752 CA1738167 COSM1409753 |
183 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1738166 rs755242934 |
183 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1158182613 CA347444880 |
185 | V>A | No |
ClinGen gnomAD |
|
|
rs1367858566 CA347444899 |
185 | V>L | No |
ClinGen TOPMed |
|
|
CA347444824 rs1363296155 |
187 | V>A | No |
ClinGen Ensembl |
|
|
rs766579273 CA1738164 COSM443304 COSM443303 |
188 | L>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1176152097 CA347444754 |
190 | L>M | No |
ClinGen gnomAD |
|
|
CA51657420 rs1013351320 |
190 | L>P | No |
ClinGen TOPMed |
|
|
CA347444752 rs1176152097 |
190 | L>V | No |
ClinGen gnomAD |
|
|
CA347444730 rs1354619926 |
191 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347444677 rs1465769776 |
193 | A>D | No |
ClinGen gnomAD |
|
|
CA1738162 rs773475876 |
193 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1738163 rs773475876 |
193 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1207279814 CA347444619 |
195 | E>G | No |
ClinGen gnomAD |
|
|
rs376534684 CA1738160 |
196 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs979452131 CA51657365 |
197 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA51657324 rs201117229 |
198 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201117229 CA1738158 |
198 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1738159 rs372215440 |
198 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776472472 CA1738156 |
202 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1013852864 CA51657290 |
206 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs746631162 CA1738154 |
208 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1738153 rs777292838 |
208 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356892398 CA347444270 |
211 | E>G | No |
ClinGen gnomAD |
|
|
rs1288422637 CA347444219 |
212 | Q>H | No |
ClinGen gnomAD |
|
|
rs1245250793 CA347444179 |
214 | H>R | No |
ClinGen TOPMed |
|
|
rs748671507 CA1738151 |
217 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462461531 CA347444114 |
217 | N>S | No |
ClinGen TOPMed |
|
|
CA1738150 rs779225828 |
218 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1738148 rs376411366 |
222 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 225 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747726341 CA1738134 |
230 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1253010312 CA347469204 |
230 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 232 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269902668 CA347469062 |
237 | S>G | No |
ClinGen gnomAD |
|
|
rs1482737359 CA347469049 |
237 | S>I | No |
ClinGen gnomAD |
|
|
CA51679070 rs562049467 |
239 | R>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA51679065 rs949463489 |
239 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA347468986 rs1170014212 |
240 | A>G | No |
ClinGen TOPMed |
|
|
rs778475837 CA1738133 |
242 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1387753572 CA347468934 |
242 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 243 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs953496474 CA51679050 |
243 | L>P | No |
ClinGen Ensembl |
|
|
CA347468813 rs1338331944 |
245 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1022495275 CA51679049 |
245 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA347468781 rs1308767109 |
246 | P>L | No |
ClinGen gnomAD |
|
|
CA1738132 rs769094685 |
248 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA51679039 rs957212882 |
249 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs199710307 CA51679022 |
253 | I>L | No |
ClinGen TOPMed |
|
|
rs1559088322 CA347468305 |
255 | H>R | No |
ClinGen Ensembl |
|
|
rs1257914552 CA347468324 |
255 | H>Y | No |
ClinGen TOPMed |
|
|
CA1738130 rs780314322 |
256 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1160098553 CA347468184 |
257 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1365928605 CA347468207 |
257 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA51679015 rs550108794 |
258 | C>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1031260886 CA51679017 |
258 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347468161 rs1031260886 |
258 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1738129 rs201711793 |
259 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573928235 CA347468089 |
260 | D>A | No |
ClinGen Ensembl |
|
|
rs1201744485 CA347468044 |
262 | S>G | No |
ClinGen gnomAD |
|
|
rs750677479 CA1738128 |
264 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347467986 rs750677479 |
264 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389808734 CA347467902 |
267 | S>N | No |
ClinGen TOPMed |
|
|
rs1573928198 CA347467860 |
269 | D>G | No |
ClinGen Ensembl |
|
|
rs1353920407 CA347467773 |
272 | Q>* | No |
ClinGen gnomAD |
|
|
rs766171298 CA1738117 |
273 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347466626 rs1265923174 |
275 | N>S | No |
ClinGen gnomAD |
|
|
rs1220614295 CA347466585 |
278 | N>D | No |
ClinGen gnomAD |
|
|
rs551144289 CA1738116 |
279 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347466564 rs1273765193 |
280 | T>A | No |
ClinGen gnomAD |
|
|
rs768945773 CA1738115 |
280 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738114 rs771772126 |
281 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA347466549 rs771772126 |
281 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs761508378 CA1738113 |
285 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367984664 CA1738112 |
286 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1738111 rs768172575 |
286 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs182569411 CA1738110 |
287 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1738109 rs776072229 |
289 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1170915148 CA347466415 |
290 | Q>R | No |
ClinGen gnomAD |
|
|
rs926638226 CA51677269 |
291 | E>A | No |
ClinGen Ensembl |
|
|
CA347466383 rs1392023358 |
291 | E>D | No |
ClinGen gnomAD |
|
|
CA347466360 rs1249347070 |
293 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs770420366 CA1738107 |
297 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553512999 CA1738105 |
297 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs770420366 CA347466266 |
297 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738103 rs781671841 |
298 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738104 rs200113032 |
298 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738102 rs757590755 |
299 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs777734196 CA1738100 |
301 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758442653 CA1738099 |
302 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA347466197 rs1344927294 |
302 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs753727587 CA1738098 |
303 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347466152 rs1286351398 |
304 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs372399132 CA1738096 |
304 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347466133 rs1573925886 |
305 | N>K | No |
ClinGen Ensembl |
|
|
rs1480741214 CA347466106 |
307 | R>T | No |
ClinGen TOPMed |
|
|
CA1738095 COSM221951 rs750270376 |
309 | G>E | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA51677223 rs368275803 |
309 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 310 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51677215 rs200442046 |
311 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA1738094 rs201653074 |
311 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1738093 rs761405072 |
312 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA347465984 rs1169070832 |
313 | K>R | No |
ClinGen gnomAD |
|
|
rs762589492 CA1738090 |
316 | L>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775127079 CA1738089 |
317 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1738087 rs746344377 |
319 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1738086 rs200693523 |
321 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347465778 rs1274734832 |
321 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347465720 rs1346467929 |
323 | G>V | No |
ClinGen TOPMed |
|
|
CA1738085 rs771276167 |
325 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347465634 rs1355897093 |
327 | A>D | No |
ClinGen gnomAD |
|
|
rs1229319408 CA347465641 |
327 | A>T | No |
ClinGen gnomAD |
|
|
CA347465620 rs1281993188 |
328 | F>I | No |
ClinGen TOPMed |
|
|
CA51677186 rs867852406 |
329 | G>E | No |
ClinGen Ensembl |
|
|
CA347465559 rs1250921235 |
330 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs375925350 CA1738069 |
334 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764797694 CA1738070 |
334 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186398327 CA1738068 |
336 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347462883 rs1302108804 |
336 | N>K | No |
ClinGen gnomAD |
|
|
CA347462862 rs1219682029 |
337 | N>S | No |
ClinGen gnomAD |
|
|
CA347462846 rs1300940688 |
338 | T>P | No |
ClinGen gnomAD |
|
|
CA1738066 rs761171474 |
339 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 339 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51672316 rs1017937797 |
343 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1738063 rs772390100 |
344 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1023303 CA1738064 rs773439589 COSM1023304 |
344 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1738062 rs748342065 |
345 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738061 rs61744273 |
345 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1559084961 CA347462566 |
346 | E>Q | No |
ClinGen Ensembl |
|
|
rs999003021 CA51672298 |
348 | Y>C | No |
ClinGen TOPMed |
|
|
CA347462393 rs1190894957 |
349 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs60429698 CA347462283 |
352 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1738059 rs745818520 |
352 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256638388 CA347462272 |
353 | A>G | No |
ClinGen gnomAD |
|
|
CA1738057 rs201984217 |
353 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751419080 CA1738056 COSM3714251 COSM3714252 |
357 | R>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs777397968 CA1738055 |
357 | R>Q | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1738053 rs752345840 |
359 | I>V | No |
ClinGen ExAC |
|
|
CA1738035 rs770941195 |
362 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1559082656 CA347459988 |
363 | K>N | No |
ClinGen Ensembl |
|
|
CA1738034 rs746880993 |
363 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA1738033 rs777642902 |
364 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs758205937 CA1738031 |
367 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA347459920 rs1573913186 |
367 | T>P | No |
ClinGen Ensembl |
|
|
rs778772598 CA1738029 |
368 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1573913170 CA347459898 |
368 | S>P | No |
ClinGen Ensembl |
|
|
rs778772598 CA347459893 |
368 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA347459874 rs1250865288 |
369 | T>R | No |
ClinGen TOPMed |
|
|
COSM3001437 COSM3001438 CA347459868 rs754667701 |
370 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA1738027 rs753450984 |
371 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761279625 CA1738025 |
373 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1573913122 CA347459804 |
374 | S>P | No |
ClinGen Ensembl |
|
|
CA347459750 rs1460986421 |
376 | I>T | No |
ClinGen TOPMed |
|
|
rs1573913099 CA347459732 |
377 | F>V | No |
ClinGen Ensembl |
|
|
CA51666897 rs1022766469 |
380 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 380 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373152672 CA1738022 |
380 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293364540 CA347459665 |
381 | V>I | No |
ClinGen gnomAD |
|
|
CA1738021 rs774694650 |
382 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1573913066 CA347459630 |
383 | T>P | No |
ClinGen Ensembl |
|
|
CA347459606 rs1159985968 |
384 | L>P | No |
ClinGen gnomAD |
|
|
CA347459599 rs1159985968 |
384 | L>R | No |
ClinGen gnomAD |
|
|
CA347459591 rs1472273544 |
385 | E>* | No |
ClinGen gnomAD |
|
|
rs1362142655 CA347459582 |
385 | E>V | No |
ClinGen gnomAD |
|
|
rs1179520212 CA347459563 |
386 | V>G | No |
ClinGen gnomAD |
|
|
TCGA novel rs1372405042 CA347459567 |
386 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA1738019 rs200678068 |
387 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200678068 CA347459550 |
387 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347459554 rs200678068 |
387 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA347459557 rs1434861120 |
387 | P>S | No |
ClinGen gnomAD |
|
|
CA347459524 rs769712825 |
389 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738017 rs769712825 |
389 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347459526 rs769712825 |
389 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738015 rs772952387 |
390 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1738016 rs746976616 |
390 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549570443 CA1738014 |
391 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs549570443 CA51666862 |
391 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1332221426 CA347459468 |
392 | V>E | No |
ClinGen gnomAD |
|
|
COSM1023299 rs560540640 COSM1023300 CA1738012 |
392 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs560540640 CA347459476 |
392 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA347459429 rs1439235000 |
394 | S>* | No |
ClinGen gnomAD |
|
|
CA347459395 rs1456941112 |
396 | H>N | No |
ClinGen gnomAD |
|
|
CA1738009 rs755523009 |
396 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1198757 rs750944359 COSM1198758 CA1738007 |
398 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1573912926 CA347459348 |
398 | T>P | No |
ClinGen Ensembl |
|
|
CA1738006 rs368838929 |
401 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs548830847 COSM1738697 CA1738005 COSM1738698 |
402 | L>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs548830847 CA1738004 |
402 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1738002 rs763184555 |
403 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1738003 rs764402682 |
403 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 404 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA51666813 rs933687100 |
404 | S>Y | No |
ClinGen TOPMed |
|
|
rs530598165 CA1738000 |
405 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776756226 CA1737999 |
405 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776756226 CA1737998 |
405 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1738001 rs530598165 |
405 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1737995 rs748069511 |
411 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1573912834 CA347459177 |
412 | P>A | No |
ClinGen Ensembl |
|
|
CA347459173 rs1232751457 |
412 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768526960 CA1737993 |
415 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745429009 COSM443297 CA1737989 COSM443298 |
416 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs745429009 CA1737990 |
416 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780648523 CA1737988 |
418 | R>S | No |
ClinGen ExAC TOPMed |
|
|
rs1336237919 CA347459089 |
419 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs757790660 CA347459068 |
420 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1737986 rs757790660 |
420 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347459072 COSM1409750 rs1401600406 COSM1409751 |
420 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1432816119 CA347459064 |
421 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1737985 rs752012849 |
421 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs562954319 CA1737983 |
423 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1737984 rs562954319 |
423 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA347459034 rs1169030057 |
423 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347459015 rs202220791 |
425 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544748549 CA1737981 |
425 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3408011 COSM3408012 CA1737982 rs202220791 |
425 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1737978 rs200243150 |
427 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1737979 rs200243150 |
427 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2288352 CA1737976 |
428 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2288352 CA1737975 VAR_039921 |
428 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs550709902 CA1737977 |
428 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_039922 CA1737974 rs1649292 |
430 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP |
|
|
COSM1409748 CA1737971 COSM1409749 rs61744733 |
431 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1737969 rs770369663 |
431 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1737970 rs770369663 |
431 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA347458896 rs1337681048 |
432 | L>F | No |
ClinGen gnomAD |
|
|
rs778315280 CA347458878 |
433 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347458879 rs778315280 |
433 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1737967 rs778315280 |
433 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM443295 rs747516201 COSM443296 CA1737968 |
433 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs758923721 CA1737966 |
435 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs374760126 CA1737965 |
436 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs570295886 CA51666635 |
437 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA347458777 rs755189333 |
437 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1737963 COSM1409746 COSM1409747 rs755189333 |
437 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA347458776 rs755189333 |
437 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA51666633 rs370369490 |
438 | L>M | No |
ClinGen ESP gnomAD |
|
|
CA347458736 rs1417138142 |
439 | W>R | No |
ClinGen gnomAD |
|
|
rs1573912623 CA347458690 |
440 | V>G | No |
ClinGen Ensembl |
|
|
CA1737962 rs181451822 |
441 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1198759 CA1737960 COSM1198760 rs377499574 |
441 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1737961 rs377499574 |
441 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347458662 rs377499574 |
441 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1006038192 CA51666617 |
442 | L>Q | No |
ClinGen Ensembl |
|
|
CA347458633 rs1158860978 |
443 | E>K | No |
ClinGen TOPMed |
|
|
CA1737959 rs750526359 |
445 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs750581584 CA1737942 |
446 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs544959323 CA1737943 |
446 | D>G | No |
ClinGen 1000Genomes ExAC |
|
|
rs1412069273 CA347457366 |
447 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs377242955 CA1737941 |
447 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 448 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758288319 CA1737940 |
449 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758288319 CA51665579 |
449 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421968684 CA347457277 |
451 | L>F | No |
ClinGen TOPMed |
|
|
CA51665572 rs1028542082 |
453 | V>F | No |
ClinGen TOPMed |
|
|
CA51665563 rs962250323 |
456 | L>P | No |
ClinGen Ensembl |
|
|
rs1222857290 CA347457076 |
457 | D>G | No |
ClinGen gnomAD |
|
|
CA347457036 rs1468194424 |
458 | R>W | No |
ClinGen gnomAD |
|
|
CA347457001 rs1271443426 |
459 | H>Y | No |
ClinGen gnomAD |
|
|
CA347456967 rs1329892341 |
460 | I>F | No |
ClinGen gnomAD |
|
|
CA347456944 rs1188396550 |
461 | S>Y | No |
ClinGen gnomAD |
|
|
CA51665555 rs1008969235 |
462 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA347456895 rs773762140 |
465 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559465733 CA1737936 |
465 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA51665521 rs559465733 |
465 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1737937 rs773762140 |
465 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766066623 CA1737935 |
466 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1400754089 CA347456860 |
467 | P>S | No |
ClinGen TOPMed |
|
|
CA1737934 rs770565102 |
468 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1737933 rs772631869 |
468 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs76277344 CA1737932 |
469 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1737931 rs199868738 |
469 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347456809 rs1216810598 |
470 | G>R | No |
ClinGen TOPMed |
|
|
CA347456785 rs1157792868 |
471 | H>N | No |
ClinGen gnomAD |
|
|
CA1737930 rs371054600 |
472 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347456749 rs1277808718 |
472 | S>T | No |
ClinGen TOPMed |
|
|
rs1427938981 CA347456731 |
473 | H>Y | No |
ClinGen gnomAD |
|
|
rs892519800 CA347456719 |
474 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA51665500 rs892519800 |
474 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1737929 rs377717113 |
476 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA347456633 rs1573910956 |
477 | M>R | No |
ClinGen Ensembl |
|
|
CA1737928 rs749729117 |
479 | A>V | No |
ClinGen ExAC |
|
|
rs1199827751 CA347456580 |
481 | S>G | No |
ClinGen TOPMed |
|
|
CA347456554 rs1573910932 |
482 | A>P | No |
ClinGen Ensembl |
|
|
rs374350995 CA1737927 |
482 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756446721 CA1737926 |
486 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746036602 CA1737925 |
490 | V>M | No |
ClinGen ExAC |
|
|
CA1737924 rs781144232 |
491 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA51665443 rs926454222 |
495 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs751587281 CA1737922 |
495 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA347456296 rs1301005675 |
496 | L>Q | No |
ClinGen gnomAD |
|
|
rs765273481 CA1737921 |
503 | P>H | No |
ClinGen ExAC |
|
|
rs1436800397 CA347456149 |
503 | P>S | No |
ClinGen gnomAD |
|
|
rs754883629 CA1737920 |
504 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q86V40
No regional properties for Q86V40
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q86V40 | |||
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of organelle membrane | The component of the organelle membrane consisting of the gene products having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of plasma membrane | The component of the plasma 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| endopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain. |
| metal ion binding | Binding to a metal ion. |
| metalloendopeptidase activity | Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions. |
| Wnt-protein binding | Binding to a Wnt-protein, a secreted growth factor involved in signaling. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| head development | The biological process whose specific outcome is the progression of a head from an initial condition to its mature state. The head is the anterior-most division of the body. |
| negative regulation of Wnt signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway. |
| positive regulation of protein oxidation | Any process that activates or increases the frequency, rate or extent of protein oxidation. |
| positive regulation of protein-containing complex assembly | Any process that activates or increases the frequency, rate or extent of protein complex assembly. |
| proteolysis | The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds. |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A6NFA1 | TRABD2B | Metalloprotease TIKI2 | Homo sapiens (Human) | PR |
| B1ATG9 | Trabd2b | Metalloprotease TIKI2 | Mus musculus (Mouse) | PR |
| F6PTN1 | trabd2a | Metalloprotease TIKI1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| E7F4V6 | trabd2b | Metalloprotease TIKI2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| E7F6V0 | trabd2a | Metalloprotease TIKI1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSPWSWFLLQ | TLCLLPTGAA | SRRGAPGTAN | CELKPQQSEL | NSFLWTIKRD | PPSYFFGTIH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VPYTRVWDFI | PDNSKEAFLQ | SSIVYFELDL | TDPYTISALT | SCQMLPQGEN | LQDVLPRDIY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CRLKRHLEYV | KLMMPLWMTP | DQRGKGLYAD | YLFNAIAGNW | ERKRPVWVML | MVNSLTEVDI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KSRGVPVLDL | FLAQEAERLR | KQTGAVEKVE | EQCHPLNGLN | FSQVIFALNQ | TLLQQESLRA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GSLQIPYTTE | DLIKHYNCGD | LSSVILSHDS | SQVPNFINAT | LPPQERITAQ | EIDSYLRREL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IYKRNERIGK | RVKALLEEFP | DKGFFFAFGA | GHFMGNNTVL | DVLRREGYEV | EHAPAGRPIH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KGKSKKTSTR | PTLSTIFAPK | VPTLEVPAPE | AVSSGHSTLP | PLVSRPGSAD | TPSEAEQRFR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KKRRRSQRRP | RLRQFSDLWV | RLEESDIVPQ | LQVPVLDRHI | STELRLPRRG | HSHHSQMVAS |
| 490 | 500 | ||||
| SACLSLWTPV | FWVLVLAFQT | ETPLL |