Q13769
Gene name |
THOC5 (C22orf19, KIAA0983) |
Protein name |
THO complex subunit 5 homolog |
Names |
NAC-alpha, Alpha-NAC, Functional spliceosome-associated protein 79, fSAP79, NF2/meningioma region protein pK1.3, Placental protein 39.2, PP39.2, hTREX90 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8563 |
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
4 structures for Q13769
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7APK | EM | 330 A | E/M/e/m | 1-683 | PDB |
| 7ZNK | EM | 390 A | E/M/e/m | 1-683 | PDB |
| 7ZNL | EM | 345 A | E/M/e/m | 1-683 | PDB |
| AF-Q13769-F1 | Predicted | AlphaFoldDB |
468 variants for Q13769
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA411149478 rs1178604752 |
2 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1480743800 CA411149474 |
2 | S>L | No |
ClinGen gnomAD |
|
|
COSM1229176 CA411149460 rs1210280856 |
4 | E>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs999138709 COSM285710 CA323090144 |
5 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA411149443 rs999138709 |
5 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs769104748 CA10175250 |
7 | K>Q | No |
ClinGen ExAC |
|
|
CA10175249 rs749735788 |
7 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 8 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10175247 rs769756307 |
9 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs776121993 CA10175248 COSM1033205 |
9 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10175245 rs781503625 |
12 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757572358 CA10175244 |
14 | I>V | No |
ClinGen ExAC |
|
|
rs1415092767 CA411149064 |
15 | R>Q | No |
ClinGen TOPMed |
|
|
rs747907483 CA10175243 |
16 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10175241 rs142300226 |
17 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs536112773 CA10175240 |
21 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA411148963 rs1601466000 |
24 | K>E | No |
ClinGen Ensembl |
|
|
CA10175239 rs766346839 |
25 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA323090080 rs922178802 |
25 | R>W | No |
ClinGen Ensembl |
|
|
COSM1033203 CA411148927 rs1309125296 |
27 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs112246632 CA323090036 |
30 | T>I | No |
ClinGen Ensembl |
|
|
rs199976569 CA10175234 |
31 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10175235 rs761423844 |
31 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs753777475 CA323082566 |
35 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA323082580 rs940880646 |
35 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10175211 rs777339042 |
36 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777339042 CA411147924 |
36 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377268660 CA10175210 |
37 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411147905 rs1199343713 |
38 | S>I | No |
ClinGen gnomAD |
|
|
rs556759265 CA10175208 |
42 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1368072332 CA411147872 |
43 | V>M | No |
ClinGen gnomAD |
|
|
CA10175206 rs748998599 |
44 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10175205 rs61740613 |
45 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10175203 rs372607483 |
46 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA411147849 rs1601455860 |
47 | D>A | No |
ClinGen Ensembl |
|
|
rs1601455838 CA411147844 |
48 | P>A | No |
ClinGen Ensembl |
|
|
rs781172346 CA10175202 |
48 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781172346 CA411147840 |
48 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411147821 rs1478588289 |
51 | D>V | No |
ClinGen TOPMed |
|
|
rs751091978 CA323082506 |
52 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10175200 rs751091978 |
52 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA10175201 rs756687525 |
52 | Y>H | No |
ClinGen ExAC TOPMed |
|
|
CA411147798 rs1174951008 |
55 | Y>H | No |
ClinGen gnomAD |
|
|
CA323082492 rs906388926 |
56 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10175198 rs758098447 |
57 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411147775 rs1158323663 |
58 | T>A | No |
ClinGen gnomAD |
|
|
rs1158323663 CA411147774 |
58 | T>P | No |
ClinGen gnomAD |
|
|
CA10175196 rs765670316 |
59 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1351386285 CA411147742 |
63 | Q>* | No |
ClinGen TOPMed |
|
|
CA323082453 rs749843086 |
64 | R>K | No |
ClinGen Ensembl |
|
|
rs760624772 CA10175192 |
66 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA411147676 rs112764070 |
72 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA323082448 rs112764070 |
72 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA411147673 rs1302742190 |
73 | K>E | No |
ClinGen TOPMed |
|
|
rs975154119 CA411147668 |
73 | K>N | No |
ClinGen TOPMed |
|
|
rs199913081 CA10175190 |
73 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10175189 rs145337041 |
74 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10175188 rs774614717 |
74 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1601455553 CA411147658 |
75 | R>T | No |
ClinGen Ensembl |
|
|
rs769571329 CA10175187 |
76 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781047344 CA10175185 |
77 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA10175186 rs781047344 |
77 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA411147641 rs1222541425 |
78 | K>R | No |
ClinGen TOPMed |
|
|
CA411147608 rs1345529504 |
81 | A>V | No |
ClinGen TOPMed |
|
|
CA10175159 rs748989318 |
82 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780546677 CA10175158 |
83 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA411147592 rs1569232611 |
84 | I>V | No |
ClinGen Ensembl |
|
|
CA411147577 rs1489754334 |
86 | E>Q | No |
ClinGen gnomAD |
|
|
CA411147568 rs1342286257 |
87 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA10175157 rs756494460 |
87 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 88 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10175155 rs750937181 |
92 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA411147529 rs1292758984 |
93 | V>M | No |
ClinGen gnomAD |
|
|
CA10175154 rs767913507 |
96 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1254859816 CA411147502 |
96 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA411147507 rs1405687503 |
96 | M>V | No |
ClinGen Ensembl |
|
|
rs1227705649 CA411147494 |
97 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
COSM1318780 CA411147467 rs1198338106 |
101 | L>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1316661059 CA411147456 |
103 | R>Q | No |
ClinGen TOPMed |
|
|
CA411147447 rs1342897913 |
104 | L>F | No |
ClinGen gnomAD |
|
|
CA411147424 rs1327771251 |
107 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490736324 CA411147411 |
108 | R>T | No |
ClinGen TOPMed |
|
|
CA10175152 rs751658280 |
112 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA411147352 rs1569232455 |
113 | R>S | No |
ClinGen Ensembl |
|
|
CA323081741 rs772172673 |
116 | T>I | No |
ClinGen Ensembl |
|
|
rs150044669 CA10175151 |
117 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1336135448 CA411146736 |
119 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 120 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10175115 rs368727977 |
121 | Q>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1046306339 CA323081336 |
125 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10175114 rs781378466 |
128 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA411146559 rs1439902779 |
136 | E>K | No |
ClinGen gnomAD |
|
|
CA10175111 rs778315400 |
138 | M>L | No |
ClinGen ExAC TOPMed |
|
|
rs1569231833 CA411146473 |
142 | K>N | No |
ClinGen Ensembl |
|
|
rs1446851427 CA411146484 |
142 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 142 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752746788 CA10175109 |
146 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1485762985 CA411146408 |
148 | L>F | No |
ClinGen gnomAD |
|
|
CA411146416 rs1440558526 |
148 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1456907506 CA411146381 |
150 | F>L | No |
ClinGen TOPMed |
|
|
rs1365820850 CA411146386 |
150 | F>S | No |
ClinGen TOPMed |
|
|
rs916502833 CA323081311 |
151 | K>R | No |
ClinGen TOPMed |
|
|
rs867784904 CA323078941 |
155 | E>G | No |
ClinGen Ensembl |
|
|
CA411145420 rs1226658879 |
156 | E>D | No |
ClinGen gnomAD |
|
|
CA411145430 rs1266090036 |
156 | E>K | No |
ClinGen gnomAD |
|
|
CA10175083 rs780430300 |
158 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10175084 rs749467731 |
158 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 160 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411145375 rs1279507561 |
161 | S>R | No |
ClinGen TOPMed |
|
|
rs764080620 CA10175080 |
163 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10175081 rs764080620 |
163 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758237134 CA10175079 |
164 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752728914 CA10175078 |
164 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs139746799 CA323078858 |
166 | Y>H | No |
ClinGen ESP gnomAD |
|
|
CA10175077 rs372080987 |
170 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA323078839 rs905741778 |
170 | P>S | No |
ClinGen TOPMed |
|
|
CA10175076 rs759147891 |
171 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10175075 rs776077736 |
173 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1569228706 CA411145234 |
173 | I>V | No |
ClinGen Ensembl |
|
|
CA323078811 rs1044210858 |
177 | E>K | No |
ClinGen TOPMed |
|
|
CA10175072 rs200573702 |
180 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10175070 rs748590222 |
183 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA411145094 rs1471606311 |
185 | Q>L | No |
ClinGen TOPMed |
|
|
CA10175069 rs774989498 |
187 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268231076 COSM1415536 CA411145056 |
190 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM1415535 CA323078793 rs1045252108 |
190 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1316082102 CA411145038 |
193 | W>R | No |
ClinGen gnomAD |
|
|
CA411145016 rs1259919428 |
196 | E>K | No |
ClinGen gnomAD |
|
|
rs780373178 CA10175066 |
198 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749401750 CA10175067 |
198 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392027854 CA411144997 |
199 | K>E | No |
ClinGen TOPMed |
|
|
CA411144987 rs1349143790 |
200 | R>K | No |
ClinGen TOPMed |
|
|
CA411144964 rs1332706153 |
201 | L>R | No |
ClinGen gnomAD |
|
|
CA411144967 rs1359083725 |
201 | L>V | No |
ClinGen gnomAD |
|
|
CA411144951 rs1354655401 |
203 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10175041 rs754915675 |
206 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA411144925 rs758510325 |
207 | E>A | No |
ClinGen TOPMed |
|
|
rs758510325 CA323076910 |
207 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 207 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555964501 CA411144905 |
210 | S>C | No |
ClinGen Ensembl |
|
|
CA10175037 rs750011915 |
211 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA10175035 rs762036354 |
219 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751983589 CA10175034 |
221 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411144798 rs751983589 |
221 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442819561 CA411144805 |
221 | V>M | No |
ClinGen gnomAD |
|
|
rs1360019009 CA411144793 |
222 | K>E | No |
ClinGen TOPMed |
|
|
rs763530832 CA10175032 |
225 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1409453695 CA411144723 |
228 | S>G | No |
ClinGen gnomAD |
|
|
CA411144678 rs1376497584 |
232 | R>C | No |
ClinGen gnomAD |
|
|
CA10175030 rs769986095 |
232 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA323076850 rs762390559 |
234 | N>D | No |
ClinGen Ensembl |
|
|
rs1569226468 CA411144659 |
234 | N>T | No |
ClinGen Ensembl |
|
|
COSM1033197 CA10175007 rs768373921 |
239 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA411144487 rs775359319 |
242 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA10175005 rs775359319 |
242 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780729690 CA10175002 |
244 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10175001 rs756774398 |
248 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA411144445 rs200730095 |
249 | M>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs200730095 CA323073336 |
249 | M>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs201916810 CA10175000 |
250 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411144433 rs1365742138 |
250 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs758773781 CA10174998 |
251 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1003877736 CA323073303 |
252 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10174997 rs202047216 |
252 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10174996 rs765796771 |
254 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1345323199 CA411144409 |
254 | A>V | No |
ClinGen TOPMed |
|
|
rs143914834 CA10174995 |
255 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10174994 rs754362956 |
256 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 256 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766479621 CA10174993 |
257 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs760679652 CA10174992 |
258 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs997537875 CA323073229 |
260 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs773425771 CA10174991 |
261 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA411144348 rs1601424585 |
263 | H>P | No |
ClinGen Ensembl |
|
|
rs887594664 CA323073213 |
263 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1331762702 CA411144343 |
264 | L>P | No |
ClinGen gnomAD |
|
|
CA10174989 rs199572850 |
265 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10174990 rs767749920 |
265 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769624235 CA10174987 |
267 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA411144325 rs1365795580 |
268 | L>V | No |
ClinGen TOPMed |
|
|
CA10174986 rs745803082 |
269 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA411144283 rs1235239045 |
274 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 276 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10174983 rs139046318 |
277 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10174981 rs758152713 |
278 | Y>C | No |
ClinGen ExAC |
|
|
rs1328629296 CA411144252 |
279 | G>E | No |
ClinGen TOPMed |
|
|
rs1397107027 CA411144254 |
279 | G>R | No |
ClinGen gnomAD |
|
|
CA323073146 rs922936248 |
283 | D>N | No |
ClinGen Ensembl |
|
|
rs547667686 CA323071096 |
284 | K>T | No |
ClinGen gnomAD |
|
|
CA10174950 rs374911362 |
285 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141199207 CA10174949 |
285 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141199207 CA10174948 |
285 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10174951 rs374911362 |
285 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1222898567 CA411144137 |
288 | V>M | No |
ClinGen TOPMed |
|
|
CA411144121 rs1477715602 |
289 | A>G | No |
ClinGen gnomAD |
|
|
rs760505803 CA10174945 |
290 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766234153 CA10174946 |
290 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576714272 CA10174943 |
291 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761426189 CA10174942 |
294 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA411144064 rs1283860586 |
295 | D>N | No |
ClinGen TOPMed |
|
|
CA411143986 rs1336963965 |
302 | K>Q | No |
ClinGen gnomAD |
|
|
CA411143924 rs1362744251 |
308 | Q>* | No |
ClinGen gnomAD |
|
|
CA411143914 rs1217887403 |
309 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1217887403 CA411143915 |
309 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1441651279 CA411143457 |
311 | E>K | No |
ClinGen gnomAD |
|
|
rs986942532 CA323070415 |
316 | A>P | No |
ClinGen gnomAD |
|
|
rs1222781972 CA411143413 |
317 | E>Q | No |
ClinGen TOPMed |
|
|
CA10174916 rs746243178 |
319 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs760121204 CA10174914 |
322 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1309562207 CA411143360 |
323 | K>T | No |
ClinGen gnomAD |
|
|
CA10174874 rs768917796 |
324 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10174873 rs201126344 |
326 | R>K | No |
ClinGen 1000Genomes ExAC |
|
|
CA10174872 rs780426209 |
328 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs770788532 CA10174871 |
329 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1402129811 CA411143316 |
331 | V>F | No |
ClinGen TOPMed |
|
|
rs746839409 CA323070066 |
332 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10174870 rs746839409 |
332 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10174869 rs777527911 |
334 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs758325423 CA10174868 |
337 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA411143274 rs1463363364 |
337 | R>H | No |
ClinGen gnomAD |
|
|
rs188617925 CA10174866 |
339 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753433320 CA411143261 |
339 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs188617925 CA10174865 |
339 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10174864 rs753433320 |
339 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs766044119 CA10174863 |
341 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA411143217 rs1438478102 |
345 | P>L | No |
ClinGen gnomAD |
|
|
rs1193695787 CA411143220 |
345 | P>S | No |
ClinGen gnomAD |
|
|
CA411143206 rs1481835776 |
347 | S>F | No |
ClinGen gnomAD |
|
|
CA411143208 rs1481835776 |
347 | S>Y | No |
ClinGen gnomAD |
|
|
CA10174862 rs760909560 |
349 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA10174860 rs775277517 |
351 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769652979 CA323070003 |
352 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs534448374 CA10174858 |
355 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10174839 rs141439716 |
358 | S>G | No |
ClinGen ESP ExAC TOPMed |
|
|
rs531814697 CA323068385 |
358 | S>N | No |
ClinGen gnomAD |
|
|
rs1159780511 CA411142927 |
359 | V>M | No |
ClinGen gnomAD |
|
|
CA10174838 rs759214429 |
361 | H>G | No |
ClinGen ExAC gnomAD |
|
|
rs1164786658 CA411142909 |
361 | H>Q | No |
ClinGen gnomAD |
|
|
CA10174837 rs775675787 |
361 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 362 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 368 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1420448893 CA411142865 |
368 | M>T | No |
ClinGen gnomAD |
|
|
CA10174836 rs765281455 |
368 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10174835 rs759789729 |
371 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10174834 rs776783828 |
372 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 373 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10174833 rs751817583 |
373 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs751817583 CA323068353 |
373 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA10174831 rs774233122 |
375 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_035692 COSM33271 rs1264823745 CA411142781 |
380 | T>K | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt dbSNP gnomAD |
|
rs768550266 CA10174830 |
381 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs749273094 CA10174829 |
381 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10174828 rs779529697 |
382 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA323068271 rs868069890 |
382 | A>V | No |
ClinGen Ensembl |
|
|
rs755649674 CA10174827 |
383 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1569217318 CA411142760 |
384 | E>G | No |
ClinGen Ensembl |
|
|
rs138718205 CA10174826 |
385 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10174824 rs757589926 |
387 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764589498 CA10174822 |
387 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10174823 rs764589498 |
387 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs757589926 CA411142745 |
387 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10174821 rs758948259 |
388 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA10174820 rs753314101 |
389 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166082247 CA411142695 |
391 | A>S | No |
ClinGen gnomAD |
|
|
rs765353596 CA10174819 |
391 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753186190 CA411142538 |
393 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10174802 rs753186190 |
393 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1235862266 CA411142531 |
394 | L>W | No |
ClinGen gnomAD |
|
|
rs1371047488 CA411142512 |
397 | P>L | No |
ClinGen gnomAD |
|
|
COSM1714253 CA411142515 rs1420423412 |
397 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs779299711 CA10174801 |
398 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766530547 CA10174798 |
405 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10174797 rs750714760 |
406 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750714760 CA10174796 |
406 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746820500 CA323065024 |
408 | D>G | No |
ClinGen Ensembl |
|
|
rs1171965251 CA411142436 |
409 | H>R | No |
ClinGen gnomAD |
|
|
CA10174794 rs762752503 |
411 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10174795 rs763813845 |
411 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1601400267 CA411142412 |
413 | T>P | No |
ClinGen Ensembl |
|
|
rs769647299 CA10174792 |
417 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA323065015 rs891992262 |
417 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM3800110 CA411142379 rs1182268471 |
418 | N>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs185059963 CA10174791 |
419 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1255003668 CA411142359 |
421 | Q>K | No |
ClinGen gnomAD |
|
|
CA10174790 rs775977624 |
426 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs759375537 CA10174774 |
427 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 427 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA323064400 rs915644536 |
428 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs914364867 CA323064395 |
432 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs370093602 CA10174771 |
436 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1601398343 CA411142018 |
438 | G>D | No |
ClinGen Ensembl |
|
|
rs1461234077 CA411142021 |
438 | G>S | No |
ClinGen gnomAD |
|
|
CA10174770 rs772949797 |
440 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10174769 rs151070468 |
442 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1569212908 CA411141992 |
442 | L>S | No |
ClinGen Ensembl |
|
|
CA10174768 rs747885558 |
444 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs769133043 CA10174766 |
448 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA10174765 rs749694898 |
451 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA323064336 rs981738196 |
451 | H>R | No |
ClinGen TOPMed |
|
|
rs1161960965 CA411141913 |
454 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs376490705 CA10174763 |
457 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1432356954 CA411141863 |
459 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 460 | T>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368730206 CA10174743 |
460 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 462 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284952002 CA411141836 |
463 | A>V | No |
ClinGen TOPMed |
|
|
CA411141832 rs1211125935 |
464 | D>A | No |
ClinGen TOPMed |
|
|
CA10174742 rs781231653 |
464 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA411141831 rs1211125935 |
464 | D>G | No |
ClinGen TOPMed |
|
|
CA10174741 rs757421498 |
465 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411141826 rs1601395935 |
465 | H>P | No |
ClinGen Ensembl |
|
|
CA10174740 rs200435124 |
466 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754679373 CA10174738 |
467 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10174737 rs753715867 |
469 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA411141800 rs1282557849 |
469 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1316281519 CA411141778 |
472 | M>K | No |
ClinGen gnomAD |
|
|
CA411141781 rs1310130069 |
472 | M>L | No |
ClinGen gnomAD |
|
|
rs1304695592 CA411141774 |
473 | E>K | No |
ClinGen gnomAD |
|
|
CA10174735 rs756109353 |
474 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs8141153 CA323063675 VAR_037134 |
475 | T>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA411141750 TCGA novel rs1376819698 |
476 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
rs761402487 CA10174732 |
476 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378709735 CA411141743 |
477 | K>I | No |
ClinGen TOPMed |
|
|
CA323063670 rs1011510688 |
478 | L>H | No |
ClinGen TOPMed |
|
|
CA323063662 COSM1033193 rs377263785 |
481 | T>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP |
|
rs1440675913 CA411141707 |
483 | V>E | No |
ClinGen gnomAD |
|
|
CA411141708 rs1452362652 |
483 | V>L | No |
ClinGen gnomAD |
|
|
rs1157508618 CA411141700 |
484 | Q>R | No |
ClinGen gnomAD |
|
|
rs999127606 CA323063646 |
485 | S>F | No |
ClinGen Ensembl |
|
|
CA10174730 rs763840864 |
486 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413120428 CA411141687 |
486 | R>H | No |
ClinGen gnomAD |
|
|
CA411141686 rs957238717 |
487 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs957238717 CA323063631 |
487 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10174728 rs775806886 |
488 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA411141648 rs1258909767 |
492 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10174725 rs372598011 |
494 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 497 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186605360 CA411141592 COSM1415530 |
499 | G>D | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
VAR_035693 COSM32545 rs1280359906 CA411141593 |
499 | G>S | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt TOPMed dbSNP |
|
rs553069874 CA323062598 |
500 | I>T | No |
ClinGen 1000Genomes |
|
|
rs765514565 CA10174708 |
501 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 502 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1393294084 CA411141556 |
505 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA411141552 rs1164094918 |
506 | D>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 508 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA323062588 rs779508937 |
508 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10174706 rs777072161 |
509 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190613642 CA411141513 |
511 | F>Y | No |
ClinGen gnomAD |
|
|
CA411141506 rs1450093037 |
512 | P>S | No |
ClinGen gnomAD |
|
|
CA411141502 rs1252334469 |
513 | A>T | No |
ClinGen gnomAD |
|
|
rs376347187 CA10174704 |
515 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180052505 CA411141488 |
515 | V>I | No |
ClinGen TOPMed |
|
|
rs773329602 CA10174703 |
516 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs534672070 CA10174702 |
518 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3424104 CA10174701 rs748316559 |
518 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10174699 rs769666296 |
520 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779292136 CA10174700 |
520 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs35832657 CA10174698 |
523 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000964052 rs35832657 CA10174697 |
523 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA411141432 rs1303373947 |
524 | T>I | No |
ClinGen gnomAD |
|
|
CA10174695 rs751505477 |
525 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs737976 CA10174696 VAR_037135 |
525 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs737976 CA411141431 |
525 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1329728104 CA411141423 |
526 | A>D | No |
ClinGen TOPMed |
|
|
rs1569210313 CA411141417 |
527 | H>R | No |
ClinGen Ensembl |
|
|
CA411141419 rs1324607261 |
527 | H>Y | No |
ClinGen gnomAD |
|
|
CA323062476 rs868103810 |
531 | M>T | No |
ClinGen TOPMed |
|
|
rs1182531344 CA411141281 |
534 | H>R | No |
ClinGen gnomAD |
|
|
rs757853867 CA10174676 |
535 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747685711 CA10174675 |
536 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs369317265 CA411141189 |
542 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369317265 CA411141187 |
542 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10174673 rs369317265 |
542 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 545 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 545 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1000173221 CA411141155 |
546 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1000173221 CA323062283 |
546 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10174670 rs756449903 |
547 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs768173834 CA10174668 |
548 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs768173834 CA411141146 |
548 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs762452125 CA10174667 |
549 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA411141139 rs1450323971 |
549 | N>Y | No |
ClinGen gnomAD |
|
|
CA323062271 rs1025534560 |
553 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1209583592 CA411141099 |
554 | A>T | No |
ClinGen TOPMed |
|
|
rs774555001 CA10174666 |
554 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs763259869 CA10174664 |
555 | L>P | No |
ClinGen ExAC |
|
|
CA10174662 rs76322387 |
556 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200216982 CA10174660 |
558 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1472869432 CA411141052 |
559 | G>V | No |
ClinGen gnomAD |
|
| rs748133475 | 560 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174521957 CA411141043 |
561 | A>T | No |
ClinGen TOPMed |
|
|
CA10174637 rs768108084 |
563 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs779657865 CA411140942 |
566 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779657865 CA10174635 |
566 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1601377471 CA411140937 |
567 | V>M | No |
ClinGen Ensembl |
|
|
rs1272479310 CA411140931 |
568 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 570 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA411140894 rs1273129690 |
573 | Y>C | No |
ClinGen TOPMed |
|
|
CA411140887 rs1344351446 |
574 | S>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 575 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10174633 rs745596484 |
575 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs781689948 CA10174632 |
578 | P>L | No |
ClinGen ExAC |
|
|
rs1295057252 CA411140864 |
578 | P>S | No |
ClinGen gnomAD |
|
|
CA10174631 VAR_021410 rs1049534 |
579 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA411140854 rs1353590415 |
580 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 581 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 582 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285867534 CA411140834 |
583 | C>R | No |
ClinGen TOPMed |
|
|
rs1305743131 CA411140830 |
583 | C>S | No |
ClinGen gnomAD |
|
|
CA411140819 rs1431155805 |
585 | N>Y | No |
ClinGen gnomAD |
|
|
CA411140804 rs1390219069 |
586 | W>C | No |
ClinGen gnomAD |
|
|
rs1169850456 CA411140785 |
589 | E>G | No |
ClinGen gnomAD |
|
|
CA411140758 rs1454207115 |
593 | S>G | No |
ClinGen gnomAD |
|
|
rs139476051 CA10174629 |
595 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA411140731 rs1488989944 |
596 | D>G | No |
ClinGen gnomAD |
|
|
rs758461075 CA10174628 |
597 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM173059 rs765406287 CA10174626 |
599 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA411140712 rs1197793903 |
599 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10174613 rs200015572 |
600 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10174612 rs200015572 |
600 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1437644967 CA411140692 |
601 | M>L | No |
ClinGen gnomAD |
|
|
CA10174610 rs201316386 |
604 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs975319085 CA323102701 |
605 | V>I | No |
ClinGen Ensembl |
|
|
CA10174609 rs778853698 |
606 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs755098807 CA10174608 |
607 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1569205489 CA411140650 |
607 | V>L | No |
ClinGen Ensembl |
|
|
CA323102697 rs966234485 |
609 | Y>C | No |
ClinGen gnomAD |
|
|
rs1157419489 CA411140628 |
610 | K>R | No |
ClinGen gnomAD |
|
|
rs1273097734 CA411140615 |
612 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766621463 CA10174606 COSM1682184 |
616 | W>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs893922361 CA323102691 |
621 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA411140553 rs893922361 |
621 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs150527574 CA10174603 |
628 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751336548 CA10174604 |
628 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs966723453 CA323102688 |
630 | C>R | No |
ClinGen Ensembl |
|
|
rs1485508597 CA411140496 |
630 | C>S | No |
ClinGen gnomAD |
|
|
rs200906350 CA323102679 |
631 | V>A | No |
ClinGen Ensembl |
|
|
rs376177761 CA10174602 |
631 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA411140481 rs1569205368 |
633 | L>Q | No |
ClinGen Ensembl |
|
|
rs764590279 CA10174600 |
634 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10174597 rs770673888 |
640 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746706029 CA10174596 |
642 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10174594 rs772553472 |
644 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA411140385 rs1569205288 |
647 | E>* | No |
ClinGen Ensembl |
|
|
CA10174593 rs748536803 |
650 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1569205257 CA411140346 |
652 | F>L | No |
ClinGen Ensembl |
|
|
CA323102621 rs907027013 |
655 | E>K | No |
ClinGen gnomAD |
|
|
rs1370354065 CA411140317 |
656 | K>N | No |
ClinGen gnomAD |
|
|
CA323102620 rs371492673 |
660 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10174591 rs371492673 |
660 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1448896186 CA411140292 |
660 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1190413585 CA411140277 |
662 | F>L | No |
ClinGen gnomAD |
|
|
rs1401556622 CA411140281 |
662 | F>S | No |
ClinGen TOPMed |
|
|
CA411140272 rs1465217490 |
663 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10174573 rs139614127 |
666 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10174572 rs199857074 |
673 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 673 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335369277 CA411140176 |
674 | N>K | No |
ClinGen TOPMed |
|
|
rs1274550104 CA411140179 |
674 | N>S | No |
ClinGen TOPMed |
|
|
rs774619990 CA10174570 |
676 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10174569 rs548085328 |
678 | G>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA323101333 rs991854809 |
679 | F>L | No |
ClinGen Ensembl |
|
|
CA10174568 rs749853907 |
683 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749853907 CA411140118 |
683 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10174567 rs200592450 |
683 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA323101325 rs200592450 |
683 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA323101331 rs749853907 |
683 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q13769
No regional properties for Q13769
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q13769 | |||
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| THO complex | The THO complex is a nuclear complex that is required for transcription elongation through genes containing tandemly repeated DNA sequences. The THO complex is also part of the TREX (TRanscription EXport) complex that is involved in coupling transcription to export of mRNAs to the cytoplasm. In S. cerevisiae, it is composed of four subunits: Hpr1p, Tho2p, Thp1p, and Mft1p, while the human complex is composed of 7 subunits. |
| THO complex part of transcription export complex | The THO complex when it is part of the TREX (TRanscription EXport) complex that is involved in coupling transcription to export of mRNAs to the cytoplasm. In S. cerevisiae, it is composed of four subunits: Hpr1, Tho2, Thp1, and Mft1, while the human complex is composed of 7 subunits. |
| transcription export complex | The transcription export (TREX) complex couples transcription elongation by RNA polymerase II to mRNA export. The complex associates with the polymerase and travels with it along the length of the transcribed gene. TREX is composed of the THO transcription elongation complex as well as other proteins that couple THO to mRNA export proteins. The TREX complex is known to be found in a wide range of eukaryotes, including S. cerevisiae and metazoans. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
8 GO annotations of biological process
| Name | Definition |
|---|---|
| monocyte differentiation | The process in which a relatively unspecialized myeloid precursor cell acquires the specialized features of a monocyte. |
| mRNA export from nucleus | The directed movement of mRNA from the nucleus to the cytoplasm. |
| mRNA processing | Any process involved in the conversion of a primary mRNA transcript into one or more mature mRNA(s) prior to translation into polypeptide. |
| negative regulation of DNA damage checkpoint | Any process that stops, prevents, or reduces the frequency, rate or extent of a DNA damage checkpoint. |
| positive regulation of DNA-templated transcription, elongation | Any process that activates or increases the frequency, rate or extent of transcription elongation, the extension of an RNA molecule after transcription initiation and promoter clearance by the addition of ribonucleotides catalyzed by a DNA-dependent RNA polymerase. |
| primitive hemopoiesis | A first transient wave of blood cell production that, in vertebrates, gives rise to erythrocytes (red blood cells) and myeloid cells. |
| RNA splicing | The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA. |
| viral mRNA export from host cell nucleus | The directed movement of intronless viral mRNA from the host nucleus to the cytoplasm for translation. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSESSKKRK | PKVIRSDGAP | AEGKRNRSDT | EQEGKYYSEE | AEVDLRDPGR | DYELYKYTCQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ELQRLMAEIQ | DLKSRGGKDV | AIEIEERRIQ | SCVHFMTLKK | LNRLAHIRLK | KGRDQTHEAK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QKVDAYHLQL | QNLLYEVMHL | QKEITKCLEF | KSKHEEIDLV | SLEEFYKEAP | PDISKAEVTM |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GDPHQQTLAR | LDWELEQRKR | LAEKYRECLS | NKEKILKEIE | VKKEYLSSLQ | PRLNSIMQAS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LPVQEYLFMP | FDQAHKQYET | ARHLPPPLYV | LFVQATAYGQ | ACDKTLSVAI | EGSVDEAKAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FKPPEDSQDD | ESDSDAEEEQ | TTKRRRPTLG | VQLDDKRKEM | LKRHPLSVML | DLKCKDDSVL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HLTFYYLMNL | NIMTVKAKVT | TAMELITPIS | AGDLLSPDSV | LSCLYPGDHG | KKTPNPANQY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QFDKVGILTL | SDYVLELGHP | YLWVQKLGGL | HFPKEQPQQT | VIADHSLSAS | HMETTMKLLK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TRVQSRLALH | KQFASLEHGI | VPVTSDCQYL | FPAKVVSRLV | KWVTVAHEDY | MELHFTKDIV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DAGLAGDTNL | YYMALIERGT | AKLQAAVVLN | PGYSSIPPVF | QLCLNWKGEK | TNSNDDNIRA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| MEGEVNVCYK | ELCGPWPSHQ | LLTNQLQRLC | VLLDVYLETE | SHDDSVEGPK | EFPQEKMCLR |
| 670 | 680 | ||||
| LFRGPSRMKP | FKYNHPQGFF | SHR |