Q5JTD0
PR
Gene name |
TJAP1 |
Protein name |
Tight junction-associated protein 1 |
Names |
Protein incorporated later into tight junctions, Tight junction protein 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:93643 |
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 Q5JTD0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q5JTD0-F1 | Predicted | AlphaFoldDB |
490 variants for Q5JTD0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA138295178 rs866554517 |
4 | A>V | No |
ClinGen gnomAD |
|
|
rs777757437 CA3824053 |
5 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138295180 rs969461091 |
5 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751348112 CA3824054 |
7 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA364242904 rs1582058089 |
9 | K>N | No |
ClinGen Ensembl |
|
|
rs745481384 CA138295221 |
10 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824057 rs745481384 |
10 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376350781 CA3824056 |
10 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779373071 CA3824059 |
12 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364242966 rs1380777393 |
12 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs962174012 CA138295229 |
14 | A>P | No |
ClinGen TOPMed |
|
|
CA364243049 rs1294812197 |
14 | A>V | No |
ClinGen gnomAD |
|
|
rs748828012 CA3824060 |
15 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260950800 CA364243111 |
17 | E>Q | No |
ClinGen gnomAD |
|
|
CA364243140 rs1460702560 |
17 | E>V | No |
ClinGen gnomAD |
|
|
CA364243197 rs1203338070 |
18 | H>Q | No |
ClinGen gnomAD |
|
|
CA3824063 rs533514467 |
19 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs773748552 CA3824062 |
19 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184812486 COSM1079592 CA364243289 |
22 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1187042 CA3824064 rs771385108 |
22 | R>H | lung Variant assessed as Somatic; 4.641e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777001618 CA3824065 |
25 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA138295276 rs370439578 |
29 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3824066 rs61745289 |
29 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765480255 CA3824067 |
32 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1279372588 CA364243505 |
32 | Q>H | No |
ClinGen TOPMed |
|
|
CA364243906 rs769944947 |
35 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824084 rs769944947 |
35 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444635001 CA364243976 |
38 | D>A | No |
ClinGen TOPMed |
|
|
CA3824085 rs775756440 |
39 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA364243991 rs1301260745 |
39 | A>T | No |
ClinGen gnomAD |
|
|
rs905563274 CA138296569 |
43 | K>E | No |
ClinGen TOPMed |
|
|
rs760420145 CA3824112 |
44 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1238429654 CA364245710 |
45 | L>S | No |
ClinGen gnomAD |
|
|
CA3824114 rs753448258 |
46 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 46 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754721586 CA3824115 |
46 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307193042 CA364245764 |
47 | E>Q | No |
ClinGen gnomAD |
|
|
rs371853334 CA3824118 CA3824119 |
48 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148303279 CA3824117 |
48 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746342734 CA3824121 |
49 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364245856 rs1313484775 |
51 | E>D | No |
ClinGen TOPMed |
|
|
rs1214836 CA138300533 |
51 | E>K | No |
ClinGen Ensembl |
|
|
rs780406788 CA3824122 |
52 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3824123 rs563916607 |
53 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768989903 CA3824124 |
53 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376480261 CA3824127 |
54 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376480261 CA3824126 |
54 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3824125 rs138122245 |
54 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3824129 rs149220687 |
55 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs140868873 CA3824131 |
55 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3824130 rs149220687 |
55 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 59 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs141516214 CA3824134 |
59 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762580387 CA3824135 |
60 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1242114562 CA364246020 |
60 | T>I | No |
ClinGen gnomAD |
|
|
rs763628452 CA3824136 |
62 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824137 rs370044590 |
62 | R>H | Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3824138 rs756701243 |
63 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3824139 rs780420679 |
65 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269813399 CA364246170 |
67 | E>V | No |
ClinGen TOPMed |
|
|
CA3824140 rs145980028 |
68 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3824141 rs183687141 |
68 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364246184 rs183687141 |
68 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748305292 CA138300628 |
69 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs909941880 CA138300624 |
69 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3824142 rs779139446 |
69 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777970729 CA3824145 |
73 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824147 rs770945294 |
75 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs146174516 CA3824146 |
75 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1342826410 CA364246356 |
76 | C>F | No |
ClinGen gnomAD |
|
|
rs865887639 CA138300678 |
82 | G>S | No |
ClinGen Ensembl |
|
|
rs141607775 CA3824149 |
85 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146187721 CA3824150 |
85 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3824152 rs763714662 |
86 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919080224 CA138300725 |
87 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs763823122 CA3824154 |
87 | E>K | No |
ClinGen ExAC |
|
|
CA364246729 rs1213051446 |
90 | K>E | No |
ClinGen gnomAD |
|
|
rs751147071 CA3824155 |
90 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1265210576 CA364246804 |
92 | K>Q | No |
ClinGen gnomAD |
|
|
CA3824156 rs761196615 |
93 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766931520 CA3824157 |
94 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754260505 CA3824158 |
95 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA364246899 rs1377297730 |
95 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3824159 rs755342240 |
96 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364246972 COSM1444735 rs1382952411 |
96 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1419145441 CA364246989 |
97 | R>T | No |
ClinGen gnomAD |
|
|
rs1324593832 CA364247442 |
99 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs369789691 CA3824183 |
101 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA138301552 rs542888096 |
102 | Y>N | No |
ClinGen 1000Genomes gnomAD |
|
|
CA138301560 rs200487812 |
103 | T>A | No |
ClinGen 1000Genomes |
|
|
CA3824184 rs561534467 |
103 | T>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA364247639 rs1310728317 |
105 | S>F | No |
ClinGen gnomAD |
|
|
rs761418560 CA3824186 |
106 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA3824187 rs761418560 |
106 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1489362347 CA364247696 |
106 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs777210516 CA3824188 |
106 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs765731218 CA3824190 |
107 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760095732 CA3824189 |
107 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753103871 CA3824191 |
108 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382316252 CA364247812 |
110 | Q>* | No |
ClinGen gnomAD |
|
|
rs1362987018 CA364247820 |
110 | Q>R | No |
ClinGen gnomAD |
|
|
rs1164741973 CA364247840 |
111 | E>Q | No |
ClinGen gnomAD |
|
|
rs1459790861 CA364247949 |
114 | D>N | No |
ClinGen gnomAD |
|
|
CA364248281 rs1260263388 |
120 | A>S | No |
ClinGen gnomAD |
|
|
rs1209510431 CA364248333 |
122 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1561823029 CA364248351 |
123 | S>N | No |
ClinGen Ensembl |
|
|
CA364248365 rs1218007068 |
124 | H>Y | No |
ClinGen TOPMed |
|
|
rs1364844768 CA364248412 |
127 | I>S | No |
ClinGen TOPMed |
|
|
rs780172641 CA138302318 |
130 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780172641 CA3824219 |
130 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138302344 rs903847275 |
135 | M>I | No |
ClinGen Ensembl |
|
|
CA3824220 rs375661437 |
135 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201415417 CA138302325 |
135 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs754817392 CA3824221 |
139 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138302348 rs936694509 |
139 | T>P | No |
ClinGen TOPMed |
|
|
CA138302374 rs1052479667 CA364250047 |
141 | D>E | No |
ClinGen gnomAD |
|
|
CA364250097 rs1268939319 |
143 | E>G | No |
ClinGen TOPMed |
|
|
rs1427992956 CA364250131 |
144 | I>M | No |
ClinGen TOPMed |
|
|
rs1288318271 CA364250165 |
145 | V>A | No |
ClinGen gnomAD |
|
|
CA3824225 rs771666097 |
149 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1177622678 CA364250393 |
153 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA138302409 rs892560282 |
157 | T>N | No |
ClinGen gnomAD |
|
|
CA364250523 rs1440973898 |
158 | I>N | No |
ClinGen gnomAD |
|
|
rs144142565 CA3824227 |
159 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3824228 rs770384098 |
159 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364250549 rs770384098 |
159 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824226 rs144142565 |
159 | N>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374538352 CA3824229 |
161 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs891005826 CA138302479 |
165 | N>S | No |
ClinGen TOPMed |
|
|
CA3824253 rs769084874 |
166 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824254 rs774901196 |
167 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367683811 CA138302630 |
167 | R>W | No |
ClinGen ESP TOPMed |
|
|
CA138302645 rs987350973 |
169 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs762107870 CA3824255 |
169 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA364251025 rs1277380577 |
171 | D>E | No |
ClinGen gnomAD |
|
|
rs773581750 CA3824257 |
171 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1319485271 CA364250996 |
171 | D>N | No |
ClinGen gnomAD |
|
|
CA3824258 rs761035237 |
172 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364251036 rs761035237 |
172 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364251041 rs1212205413 |
172 | C>Y | No |
ClinGen gnomAD |
|
|
CA3824259 rs549593302 |
173 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364251061 rs549593302 |
173 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824261 rs759636636 |
175 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824262 rs765105582 |
176 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359614011 CA364251095 |
177 | Q>* | No |
ClinGen TOPMed |
|
|
CA364251097 rs1476552128 |
177 | Q>R | No |
ClinGen gnomAD |
|
|
CA3824263 rs371460187 |
179 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA138302691 rs200663198 |
181 | C>Y | No |
ClinGen gnomAD |
|
|
CA364251200 rs1315394654 |
183 | K>E | No |
ClinGen gnomAD |
|
|
CA3824265 rs777490474 |
183 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA364251277 rs1342765013 |
186 | F>V | No |
ClinGen gnomAD |
|
|
CA364251299 rs1382298758 |
187 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA364251303 rs1416928654 |
187 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3824268 rs376753394 |
190 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769298918 CA364251430 |
193 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769298918 CA3824270 |
193 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176074753 CA364251540 |
194 | L>R | No |
ClinGen gnomAD |
|
|
rs1396356202 CA364251542 |
195 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757853342 CA3824331 |
199 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824332 rs566099873 |
199 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750852117 CA3824333 |
200 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA364251582 rs1365681438 |
201 | M>V | No |
ClinGen gnomAD |
|
|
CA3824334 rs756386347 |
202 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs535880937 CA3824336 |
203 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs368960870 CA3824335 |
203 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748194995 CA3824339 |
207 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824338 rs779030720 |
207 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA364251701 rs1561832821 |
210 | Q>E | No |
ClinGen Ensembl |
|
|
rs772972797 CA3824341 |
211 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1582137831 CA364251739 |
212 | A>P | No |
ClinGen Ensembl |
|
|
CA364251755 rs770562512 |
213 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824343 rs770562512 |
213 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364251786 rs1437249468 |
215 | P>A | No |
ClinGen gnomAD |
|
|
rs776431573 CA3824344 |
215 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776431573 CA364251794 |
215 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364251809 rs1402244086 |
216 | G>V | No |
ClinGen gnomAD |
|
|
CA3824345 rs759317180 |
217 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA138303878 rs572628217 |
219 | P>L | No |
ClinGen 1000Genomes TOPMed |
|
|
CA138303879 rs999648691 |
221 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1251818615 CA364251882 |
222 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 222 | A>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364251891 rs1326801133 |
223 | P>L | No |
ClinGen gnomAD |
|
|
rs1031494154 CA138303890 |
224 | G>E | No |
ClinGen TOPMed |
|
|
CA3824348 rs201454123 |
225 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3824349 rs201454123 |
225 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364251921 rs1309198754 |
227 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1309198754 CA364251919 |
227 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA364251944 rs1374605287 |
228 | P>L | No |
ClinGen gnomAD |
|
|
CA364251946 rs1582138779 |
229 | T>P | No |
ClinGen Ensembl |
|
|
CA3824352 rs780339941 |
232 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756506356 CA3824351 |
232 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1393517601 CA364252010 |
233 | A>S | No |
ClinGen TOPMed |
|
|
rs564932795 CA3824354 |
234 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364252038 rs1582139040 |
235 | V>M | No |
ClinGen Ensembl |
|
|
rs577012593 CA3824359 |
239 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs577012593 CA3824358 |
239 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA138303946 rs377531746 |
243 | L>V | No |
ClinGen ESP |
|
|
rs769621480 CA3824364 |
247 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1330843384 CA364252352 |
248 | Q>* | No |
ClinGen gnomAD |
|
|
CA138303954 rs762162722 |
250 | G>D | No |
ClinGen Ensembl |
|
|
rs1355174666 CA364252407 |
250 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs145404389 CA3824367 |
252 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3824369 rs151036953 COSM1079596 |
253 | G>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed |
| TCGA novel | 253 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766840173 CA3824370 |
254 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA364252536 rs1234234978 COSM315932 |
254 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs755284986 CA3824373 |
255 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA3824372 rs755284986 |
255 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3824371 rs754249419 |
255 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA364252573 rs1482100115 |
256 | L>M | No |
ClinGen TOPMed |
|
|
CA3824375 rs752792055 |
259 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs752792055 CA3824374 |
259 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3824376 rs777769132 |
261 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757304470 CA3824378 |
263 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364252824 rs3734689 |
263 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1475424410 CA364252834 |
264 | V>M | No |
ClinGen gnomAD |
|
|
CA364252880 rs1189730475 |
265 | D>G | No |
ClinGen gnomAD |
|
|
CA138303997 rs927657580 |
266 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1476998644 CA364252900 |
266 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA364252898 rs1476998644 |
266 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA364252919 rs1420368631 |
267 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3824381 rs769674182 |
272 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3824382 rs775214291 |
273 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1415791188 CA364253026 |
274 | P>L | No |
ClinGen gnomAD |
|
|
rs1408608550 CA364253020 |
274 | P>S | No |
ClinGen TOPMed |
|
|
CA364253060 rs1338883057 |
277 | P>H | No |
ClinGen gnomAD |
|
|
CA364253062 rs1338883057 |
277 | P>R | No |
ClinGen gnomAD |
|
|
rs768342211 CA3824384 |
277 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530093578 CA3824385 |
278 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1434801294 CA364253093 |
280 | P>S | No |
ClinGen TOPMed |
|
|
rs761363520 CA3824386 |
282 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216922937 CA364253152 |
283 | P>L | No |
ClinGen gnomAD |
|
|
CA3824387 rs766891582 |
284 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364253208 rs1485499527 |
285 | P>L | No |
ClinGen gnomAD |
|
|
CA364253248 rs1260826033 |
287 | P>S | No |
ClinGen gnomAD |
|
|
rs759895389 CA3824389 |
288 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs753088689 CA364253373 |
292 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA364253382 rs1181001989 |
293 | S>T | No |
ClinGen TOPMed |
|
|
CA364253392 rs1170829691 |
294 | L>V | No |
ClinGen gnomAD |
|
|
CA364253419 rs1394549712 |
296 | T>S | No |
ClinGen gnomAD |
|
|
CA3824392 rs763148664 |
298 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364253486 rs1188666916 |
299 | G>D | No |
ClinGen TOPMed |
|
|
rs1259548775 CA364253478 |
299 | G>S | No |
ClinGen TOPMed |
|
|
CA364253492 rs1188666916 |
299 | G>V | No |
ClinGen TOPMed |
|
|
rs764350558 CA3824393 |
300 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364253502 rs1176048775 |
300 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1381970684 CA364253519 |
301 | P>A | No |
ClinGen gnomAD |
|
|
CA3824394 rs769267252 |
301 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769267252 CA364253525 |
301 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824398 rs750321535 |
303 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750321535 CA3824397 |
303 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364253595 rs749105268 |
304 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs749105268 CA3824401 |
304 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs140679516 CA3824400 |
304 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3824403 rs778579853 |
306 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA364255385 rs527797003 |
307 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771502238 CA3824405 |
308 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777133435 CA3824407 |
310 | F>C | No |
ClinGen ExAC |
|
|
CA3824408 rs760091595 |
310 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 311 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364255579 rs775754739 |
314 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA364255570 rs1582142749 |
314 | N>T | No |
ClinGen Ensembl |
|
|
CA3824411 rs763357562 |
315 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA364255623 rs1582142919 |
316 | Y>S | No |
ClinGen Ensembl |
|
|
rs1582143038 CA364255650 |
318 | T>P | No |
ClinGen Ensembl |
|
|
rs199978558 CA3824415 |
319 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1455450738 CA364255683 |
320 | S>F | No |
ClinGen TOPMed |
|
|
rs570954296 CA3824417 |
320 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780017622 CA3824419 |
321 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754760351 CA3824421 |
322 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824420 rs376723227 |
322 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364255759 rs1371135899 |
324 | P>S | No |
ClinGen gnomAD |
|
|
CA364255790 rs1307013251 |
325 | L>R | No |
ClinGen gnomAD |
|
|
CA364255823 rs771696551 |
327 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771696551 CA3824424 |
327 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 328 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3824425 rs777327527 |
329 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs138388730 CA3824426 |
329 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138388730 CA364255871 |
329 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770256095 CA3824428 |
332 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA3824427 rs770256095 |
332 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA364255954 rs1274333532 |
333 | E>A | No |
ClinGen TOPMed |
|
|
rs1215573195 CA364255944 |
333 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 334 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3824431 rs367871522 |
336 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 340 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3824433 rs762184189 |
340 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824432 rs774728716 |
340 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA138304345 rs905378399 |
341 | I>T | No |
ClinGen Ensembl |
|
|
CA3824434 rs767849265 |
343 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824435 rs77386052 |
343 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364256158 rs77386052 |
343 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364256157 rs77386052 |
343 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1432574764 CA364256161 |
344 | N>H | No |
ClinGen TOPMed |
|
|
CA364256184 rs1328778715 |
345 | S>N | No |
ClinGen gnomAD |
|
|
rs766256013 CA3824437 |
346 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs969176201 CA138304370 |
347 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA364256231 rs1404750650 |
349 | N>D | No |
ClinGen TOPMed |
|
|
CA364256235 rs1232398927 |
349 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3824441 rs143474891 |
352 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1350992114 CA824939862 |
352 | Y>* | No |
ClinGen Ensembl |
|
|
rs1169652514 CA364256271 |
352 | Y>D | No |
ClinGen TOPMed |
|
|
CA364256285 rs1196917786 |
353 | A>T | No |
ClinGen gnomAD |
|
|
rs750312898 CA138304391 |
354 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4161234 rs750312898 CA3824444 COSM4161233 |
354 | T>S | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3824445 rs200438172 |
355 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1195857 rs868241056 CA138304392 |
355 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 357 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA138304396 rs961697642 |
358 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 361 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364256354 rs1372035981 |
361 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3824446 rs533644946 |
363 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780433212 CA3824448 |
367 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs147994267 CA3824450 |
369 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3824449 rs558657921 |
369 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364256419 rs1372891244 |
370 | A>D | No |
ClinGen TOPMed |
|
|
CA364256416 rs1225806172 |
370 | A>S | No |
ClinGen TOPMed |
|
|
rs141625837 CA3824451 |
371 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3669615 CA3824452 COSM3669616 rs7767260 |
371 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs7767260 CA364256432 |
371 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772444884 CA3824453 |
372 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138304456 rs942835974 |
377 | S>R | No |
ClinGen TOPMed |
|
|
CA364256508 rs1582146061 |
378 | T>P | No |
ClinGen Ensembl |
|
|
rs773526698 CA3824454 |
379 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760675540 CA3824455 |
381 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3824456 rs766424165 |
382 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA364256633 rs1258720985 |
386 | P>R | No |
ClinGen gnomAD |
|
|
rs1486838431 CA364256652 |
387 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs776557010 CA3824457 |
388 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs574800694 CA3824459 |
389 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3824458 rs759581422 |
389 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 389 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3824460 rs752535285 |
390 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1434091325 CA364256729 |
392 | P>T | No |
ClinGen gnomAD |
|
|
CA364256742 rs1174161609 |
393 | A>T | No |
ClinGen gnomAD |
|
|
rs1377078282 CA364256755 |
393 | A>V | No |
ClinGen gnomAD |
|
|
CA3824461 rs758144088 |
394 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA364256758 rs1397857071 |
394 | P>S | No |
ClinGen gnomAD |
|
|
rs763770647 CA3824462 |
395 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1235057190 CA364256794 |
396 | T>I | No |
ClinGen TOPMed |
|
|
CA3824463 rs751150485 |
400 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234248599 CA364256853 |
401 | A>V | No |
ClinGen gnomAD |
|
|
CA364256856 rs1281615118 |
402 | S>G | No |
ClinGen gnomAD |
|
|
CA364256888 rs1202423843 |
403 | S>F | No |
ClinGen TOPMed |
|
|
rs1350529714 COSM1079597 CA364256941 |
407 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA364256986 rs1582147332 |
409 | D>A | No |
ClinGen Ensembl |
|
|
CA364256993 CA138304525 rs542203793 |
409 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 413 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA364257089 rs1250651443 |
414 | W>* | No |
ClinGen gnomAD |
|
|
CA364257094 rs1250651443 |
414 | W>C | No |
ClinGen gnomAD |
|
|
rs1453225691 CA364257103 |
415 | Q>* | No |
ClinGen gnomAD |
|
|
rs149804539 CA3824468 |
416 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3824467 rs41281810 |
416 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364257171 rs1417639732 |
418 | F>S | No |
ClinGen gnomAD |
|
|
CA138304547 rs370354833 |
419 | V>E | No |
ClinGen ESP |
|
|
rs527731288 CA3824469 |
419 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3824470 rs200048590 COSM1079598 |
421 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs41281812 CA3824471 |
421 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364257263 rs1368905689 |
422 | T>I | No |
ClinGen gnomAD |
|
|
CA364257274 rs1304825436 |
423 | P>L | No |
ClinGen gnomAD |
|
|
CA364257288 rs1222558135 |
424 | P>L | No |
ClinGen gnomAD |
|
|
CA3824474 rs771050883 |
424 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1306807849 CA364257302 |
425 | P>R | No |
ClinGen gnomAD |
|
|
CA364257320 rs1442924909 |
426 | A>V | No |
ClinGen TOPMed |
|
|
CA3824475 rs776807590 |
427 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA138304581 rs922809135 |
429 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1213704281 CA364257367 |
429 | A>V | No |
ClinGen gnomAD |
|
|
rs373622757 CA3824478 |
431 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3824479 rs368924245 |
431 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763823752 CA3824480 |
432 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824481 rs751302872 |
436 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113043362 CA3824482 |
436 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113043362 CA3824483 |
436 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142853495 CA3824485 |
437 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA364257528 rs1365938055 |
440 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 442 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1374537019 CA364257566 |
442 | L>P | No |
ClinGen gnomAD |
|
|
CA3824488 rs372254586 |
444 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3824489 rs550373868 |
444 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3824490 rs550373868 |
444 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747300373 CA3824491 |
447 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3824492 rs771231383 |
448 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA138304621 rs56295935 |
449 | S>N | No |
ClinGen Ensembl |
|
|
CA3824493 rs201601445 |
450 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA138304634 rs201601445 |
450 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA364257676 rs1286417526 |
451 | A>G | No |
ClinGen TOPMed |
|
|
CA3824495 rs147406860 |
451 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364257710 rs1233333793 |
453 | R>K | No |
ClinGen gnomAD |
|
|
rs1481498392 CA364257723 |
454 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA138304666 rs61745287 |
455 | E>* | No |
ClinGen Ensembl |
|
|
CA364257765 rs1185445365 |
456 | V>M | No |
ClinGen gnomAD |
|
|
rs376595551 CA138304689 |
457 | V>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3824497 rs762939002 |
457 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376595551 CA364257796 |
457 | V>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA364257822 rs1416101438 |
459 | A>P | No |
ClinGen gnomAD |
|
|
CA3824498 rs547728150 |
459 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1561840421 CA364257841 |
460 | P>S | No |
ClinGen Ensembl |
|
|
rs774241829 CA3824499 |
461 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA138304696 rs61745288 |
462 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs61745288 CA3824500 |
462 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs200207672 CA3824501 |
463 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs139615832 CA364257897 |
463 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139615832 CA3824502 |
463 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA138304712 rs993193253 |
464 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3824504 rs766044760 COSM1079599 |
465 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1389624855 CA364257946 |
466 | E>* | No |
ClinGen gnomAD |
|
|
rs1309118601 CA364257954 |
466 | E>V | No |
ClinGen gnomAD |
|
|
rs754622507 CA138304724 |
467 | S>G | No |
ClinGen Ensembl |
|
|
rs1180912129 CA364257970 |
467 | S>N | No |
ClinGen TOPMed |
|
|
rs1232529212 CA364258072 |
473 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3824506 rs759009982 |
473 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364258080 rs759009982 |
473 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778115763 CA3824507 |
475 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778115763 CA3824508 |
475 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364258121 rs1464294783 |
476 | D>E | No |
ClinGen TOPMed |
|
|
rs1266146266 CA364258123 |
477 | S>P | No |
ClinGen TOPMed |
|
|
CA3824509 rs757520226 |
478 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs781483817 CA3824510 |
481 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA364258196 rs1239372698 |
481 | R>S | No |
ClinGen gnomAD |
|
|
rs769995165 CA3824512 |
485 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 485 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3824514 rs199736367 |
487 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA364258353 rs768629953 |
489 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145497550 CA3824516 |
489 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA364258356 rs768629953 |
489 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3824515 rs768629953 |
489 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747977897 CA3824517 |
490 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364258393 rs1314341821 |
491 | S>G | No |
ClinGen gnomAD |
|
|
rs1429582803 CA364258514 |
495 | E>K | No |
ClinGen gnomAD |
|
|
rs1270324882 CA364258533 |
495 | E>V | No |
ClinGen gnomAD |
|
|
rs148726277 CA3824519 COSM1658911 |
496 | R>C | salivary_gland [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs200162440 CA3824520 |
496 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA364258579 rs1582151851 |
497 | Q>* | No |
ClinGen Ensembl |
|
|
CA138304848 rs112094583 |
501 | P>H | No |
ClinGen Ensembl |
|
|
rs1348353390 CA364258684 |
501 | P>S | No |
ClinGen gnomAD |
|
|
CA364258718 rs1212672540 |
503 | N>D | No |
ClinGen gnomAD |
|
|
CA3824522 rs766095591 |
504 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1192720346 CA364258825 |
506 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1192720346 CA364258820 |
506 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776325976 CA3824523 |
507 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3824524 rs988392763 |
508 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA364258866 rs1451369688 |
508 | E>K | No |
ClinGen gnomAD |
|
|
CA364258918 rs1192336097 |
509 | G>E | No |
ClinGen gnomAD |
|
|
CA364258968 rs1435729541 |
511 | G>V | No |
ClinGen gnomAD |
|
|
CA364258976 rs1174744770 |
512 | T>I | No |
ClinGen gnomAD |
|
|
CA3824526 rs759065077 |
513 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA138304887 rs369536388 |
514 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs764689288 CA3824527 |
514 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA364259008 rs369536388 |
514 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3824528 rs751947604 |
515 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA364259043 rs1582152800 |
515 | T>P | No |
ClinGen Ensembl |
|
|
rs767831708 CA3824530 |
516 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA364259139 rs1371723052 |
518 | R>S | No |
ClinGen gnomAD |
|
|
CA138304905 rs946731283 |
519 | A>S | No |
ClinGen TOPMed |
|
|
CA364259156 rs1236388487 |
519 | A>V | No |
ClinGen gnomAD |
|
|
CA364259174 rs1349640329 |
520 | W>* | No |
ClinGen gnomAD |
|
|
rs1285155476 CA364259205 |
521 | P>L | No |
ClinGen gnomAD |
|
|
CA364259200 rs1204803647 |
521 | P>S | No |
ClinGen gnomAD |
|
|
rs1188865382 CA364259218 |
522 | L>F | No |
ClinGen TOPMed |
|
|
CA364259237 rs1211829490 |
523 | P>A | No |
ClinGen gnomAD |
|
|
CA364259239 rs1211829490 |
523 | P>S | No |
ClinGen gnomAD |
|
|
rs1215345559 CA364259267 |
524 | S>R | No |
ClinGen TOPMed |
|
|
rs780233765 CA3824533 |
525 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1362465305 CA364259281 |
526 | S>R | No |
ClinGen gnomAD |
|
|
CA3824535 rs754974932 |
527 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1158809518 CA364259308 |
527 | R>H | No |
ClinGen gnomAD |
|
|
CA3824536 rs778921453 |
529 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs748093144 CA3824537 |
530 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA138304961 rs905248772 |
533 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3824538 rs772040955 |
535 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA364259487 rs1388486108 |
535 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs567650828 CA138304963 |
537 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA364259552 rs1334969603 |
538 | H>N | No |
ClinGen gnomAD |
|
|
CA364259556 rs1334969603 |
538 | H>Y | No |
ClinGen gnomAD |
|
|
CA364259581 rs1239422849 |
539 | H>D | No |
ClinGen gnomAD |
|
|
CA3824539 rs772919914 |
540 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs770726883 CA3824541 |
541 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556401786 CA3824543 |
542 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA3824544 rs759119952 COSM1672443 |
542 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1442108091 CA364259692 |
543 | K>E | No |
ClinGen TOPMed |
|
|
CA364259699 rs1212185959 |
543 | K>T | No |
ClinGen gnomAD |
|
|
CA3824545 rs764596558 |
544 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 546 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762297968 CA3824547 |
548 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746029494 CA138304989 |
548 | Q>R | No |
ClinGen Ensembl |
|
|
rs768041639 CA3824548 |
549 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3824550 rs756421805 |
553 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs753994042 CA3824552 |
555 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs753994042 CA364259961 |
555 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1391896578 CA364259983 |
557 | N>K | No |
ClinGen gnomAD |
No associated diseases with Q5JTD0
2 regional properties for Q5JTD0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Tight junction-associated protein 1 domain | 284 - 457 | IPR043470-1 |
| domain | Tight junction-associated protein 1 domain | 482 - 556 | IPR043470-2 |
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| bicellular tight junction | An occluding cell-cell junction that is composed of a branching network of sealing strands that completely encircles the apical end of each cell in an epithelial sheet; the outer leaflets of the two interacting plasma membranes are seen to be tightly apposed where sealing strands are present. Each sealing strand is composed of a long row of transmembrane adhesion proteins embedded in each of the two interacting plasma membranes. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| Golgi organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the Golgi apparatus. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTSAAPAKKP | YRKAPPEHRE | LRLEIPGSRL | EQEEPLTDAE | RMKLLQEENE | ELRRRLASAT |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RRTEALEREL | EIGQDCLELE | LGQSREELDK | FKDKFRRLQN | SYTASQRTNQ | ELEDKLHTLA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLSHSWIFAI | KKAEMDRKTL | DWEIVELTNK | LLDAKNTINK | LEELNERYRL | DCNLAVQLLK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CNKSHFRNHK | FADLPCELQD | MVRKHLHSGQ | EAASPGPAPS | LAPGAVVPTS | VIARVLEKPE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SLLLNSAQSG | SAGRPLAEDV | FVHVDMSEGV | PGDPASPPAP | GSPTPQPNGE | CHSLGTARGS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PEEELPLPAF | EKLNPYPTPS | PPHPLYPGRR | VIEFSEDKVR | IPRNSPLPNC | TYATRQAISL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SLVEEGSERA | RPSPVPSTPA | SAQASPHHQP | SPAPLTLSAP | ASSASSEEDL | LVSWQRAFVD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RTPPPAAVAQ | RTAFGRDALP | ELQRHFAHSP | ADRDEVVQAP | SARPEESELL | LPTEPDSGFP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| REEEELNLPI | SPEEERQSLL | PINRGTEEGP | GTSHTEGRAW | PLPSSSRPQR | SPKRMGVHHL |
| 550 | |||||
| HRKDSLTQAQ | EQGNLLN |