Q8NI27
PR
Gene name |
THOC2 (CXorf3) |
Protein name |
THO complex subunit 2 |
Names |
Tho2, hTREX120 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57187 |
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 Q8NI27
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7APK | EM | 330 A | B/J/b/j | 1-1203 | PDB |
| 7ZNK | EM | 390 A | B/J/b/j | 1-1593 | PDB |
| 7ZNL | EM | 345 A | B/J/b/j | 1-1593 | PDB |
| AF-Q8NI27-F1 | Predicted | AlphaFoldDB |
474 variants for Q8NI27
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs768725739 RCV001267194 CA10507968 |
9 | P>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1569441509 CA414279814 RCV000723281 |
45 | F>I | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1603326578 RCV000995899 CA414279699 |
50 | Y>S | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2050956716 RCV001330247 |
65 | Q>H | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000623861 CA414278974 RCV002289844 rs1556302160 RCV000664429 COSM1114397 |
77 | R>C | Variant assessed as Somatic; impact. endometrium Inborn genetic diseases X-linked intellectual disability-short stature-overweight syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_075718 RCV000190531 rs797045019 CA204500 |
313 | L>F | X-linked intellectual disability-short stature-overweight syndrome XLID12 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2049123032 RCV001266562 |
335 | E>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001266214 rs2049081784 |
382 | A>D | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622456 rs928293754 CA335258368 |
383 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs145905162 CA10507754 RCV002505266 RCV000889428 |
421 | A>T | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA204498 VAR_075719 RCV000190530 rs797045018 |
438 | L>P | X-linked intellectual disability-short stature-overweight syndrome XLID12; reduced amounts of protein; reduced amounts of other THO complex subunits; the mutant protein has a significantly shorter half-life [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000664428 rs1556036052 CA414269567 |
517 | Y>C | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001249832 rs2047664414 RCV001773570 |
656 | D>G | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000991318 CA414268469 rs1603255389 |
666 | N>D | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001311402 CA414268239 RCV000664423 rs1556024875 |
696 | T>I | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA414268110 rs1556023928 RCV000664424 |
713 | G>D | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA414268034 rs1603252573 RCV000991319 |
724 | K>E | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_075720 RCV000190533 CA204504 rs797045021 |
800 | I>T | X-linked intellectual disability-short stature-overweight syndrome XLID12; reduced amounts of mutant protein; reduced amounts of other THO complex subunits; the mutant protein has a significantly shorter half-life [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001335641 rs769718049 CA10507587 |
805 | N>S | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000991320 CA414266903 rs1603246794 |
881 | Y>C | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001267604 rs2047319309 |
891 | D>G | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA414266685 RCV001330248 rs1256411821 RCV003106195 |
912 | A>P | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA414265921 rs1556017474 RCV000622800 RCV000991321 |
981 | C>Y | Inborn genetic diseases X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA414265747 rs1326074013 RCV001330249 |
998 | R>H | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA204502 rs797045020 VAR_075721 RCV000190532 |
1012 | S>P | X-linked intellectual disability-short stature-overweight syndrome XLID12; normal amounts of mutant protein; normal amounts of other THO complex subunits [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1603242504 RCV000991322 CA414264753 |
1075 | R>W | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA414264686 rs1556015763 RCV000624420 |
1081 | G>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000991323 rs1603242447 CA414264451 |
1100 | W>C | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2047177327 RCV001264749 |
1102 | Y>C | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000664430 rs1556015593 CA414264379 |
1108 | S>L | Variant assessed as Somatic; impact. X-linked intellectual disability-short stature-overweight syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1556015553 RCV000664431 CA414264292 |
1121 | R>G | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001310257 rs2047169812 |
1143 | A>T | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA414263808 RCV000664425 rs1556014935 |
1187 | H>Y | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10507433 rs753209373 RCV001197071 |
1205 | G>R | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA414263295 rs1556014537 RCV000664432 |
1261 | N>H | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000991324 CA414260503 rs1603229932 |
1549 | K>R | X-linked intellectual disability-short stature-overweight syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs746970138 CA10507970 |
5 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA414281804 rs1603351992 |
6 | V>L | No |
ClinGen Ensembl |
|
|
CA414281797 rs1259766286 |
7 | V>L | No |
ClinGen gnomAD |
|
|
rs1249742378 CA414281785 |
9 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10507967 rs749306114 |
10 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904599506 CA335262980 |
14 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1021680693 CA335262979 |
15 | N>D | No |
ClinGen Ensembl |
|
|
CA10507965 rs756283950 |
17 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1239363080 CA414281656 |
22 | G>D | No |
ClinGen gnomAD |
|
|
rs1569446519 CA414280366 |
26 | H>D | No |
ClinGen Ensembl |
|
|
rs773147391 CA10507949 |
29 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1284081197 CA414280331 |
31 | L>F | No |
ClinGen gnomAD |
|
|
rs1347296546 CA414280298 |
35 | K>T | No |
ClinGen gnomAD |
|
|
rs1319436070 CA414280294 |
36 | S>G | No |
ClinGen gnomAD |
|
|
COSM4004991 CA335261569 rs976906649 |
43 | R>I | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1025436340 CA335261160 |
48 | A>S | No |
ClinGen Ensembl |
|
|
CA414279641 rs1271119365 |
53 | S>L | No |
ClinGen gnomAD |
|
|
rs1328121494 CA414279315 |
71 | S>G | No |
ClinGen gnomAD |
|
|
rs1316904445 CA414279271 |
73 | I>V | No |
ClinGen TOPMed |
|
|
rs1213731346 CA414279253 |
74 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 75 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 79 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414278891 rs1603318174 |
83 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 87 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308758838 CA414278772 |
88 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 89 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778199722 CA10507920 |
90 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10507921 rs778199722 |
90 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414278717 rs1157795052 |
91 | L>V | No |
ClinGen TOPMed |
|
|
CA229071 rs483352705 RCV000087182 |
93 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001171643 rs2050501566 |
97 | C>S | No |
ClinVar dbSNP |
|
|
CA414277715 rs1251933183 |
106 | Y>C | No |
ClinGen gnomAD |
|
|
rs751460058 CA10507906 |
108 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs764037034 RCV001224698 CA10507905 |
111 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 118 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 119 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2050464723 RCV001264628 |
125 | E>G | No |
ClinVar dbSNP |
|
| TCGA novel | 128 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779513133 CA10507892 |
134 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414276947 rs1471889320 |
134 | S>T | No |
ClinGen gnomAD |
|
| rs374192513 | 155 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 164 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 167 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264917753 CA414275919 |
189 | S>R | No |
ClinGen TOPMed |
|
|
CA335260417 rs36040359 |
194 | E>Q | No |
ClinGen Ensembl |
|
|
rs1173164682 CA414274252 |
208 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10507853 rs763157186 |
213 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1268143956 CA414274064 |
220 | C>R | No |
ClinGen gnomAD |
|
|
rs1209378975 CA414274039 |
221 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 225 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775992952 COSM2724476 CA10507852 |
225 | D>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs775992952 CA414273963 |
225 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 226 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507851 rs770275586 TCGA novel |
227 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs776092894 CA10507849 |
230 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10507848 rs770539761 |
233 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1186758377 CA414273872 |
234 | S>T | No |
ClinGen TOPMed |
|
|
COSM1114389 rs549256040 CA10507847 |
241 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA10507845 rs771907794 |
244 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA414273735 rs1300365770 |
252 | F>L | No |
ClinGen gnomAD |
|
|
rs1256537653 CA414271519 |
260 | G>D | No |
ClinGen TOPMed |
|
|
rs1412537425 CA414271488 |
262 | T>A | No |
ClinGen TOPMed |
|
|
CA414271486 rs1412537425 |
262 | T>S | No |
ClinGen TOPMed |
|
|
CA10507826 rs373048198 |
265 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs933619917 CA335258637 |
266 | L>F | No |
ClinGen TOPMed |
|
|
rs760038019 CA10507825 |
269 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414271290 rs1413249298 |
279 | I>M | No |
ClinGen TOPMed |
|
|
rs1409873585 CA414271201 |
290 | P>S | No |
ClinGen gnomAD |
|
|
rs924432733 CA335258425 |
293 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 295 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414271129 rs1052675186 |
299 | H>Q | No |
ClinGen gnomAD |
|
|
rs202244860 CA10507809 |
304 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
rs761579225 CA10507805 |
314 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10507803 rs768572180 |
315 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA335258423 rs61729626 |
317 | V>A | No |
ClinGen Ensembl |
|
|
rs769616673 CA10507800 |
329 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs747156518 CA10507799 |
331 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs758428635 CA10507797 |
333 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10507798 rs777697340 |
333 | E>K | No |
ClinGen ExAC |
|
| TCGA novel | 334 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414270885 rs1434706869 |
334 | E>D | No |
ClinGen gnomAD |
|
|
rs748401363 CA10507796 |
335 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 344 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 352 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752979284 CA10507788 |
355 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761336070 CA10507787 |
363 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs774157703 CA10507786 |
364 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414270615 rs1363360425 |
370 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA10507784 COSM1173545 rs762875859 |
372 | Y>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA414270577 rs1473466933 |
376 | H>D | No |
ClinGen TOPMed |
|
|
rs775118826 CA10507783 |
376 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1322758966 CA414270539 |
382 | A>T | No |
ClinGen gnomAD |
|
|
rs745818939 CA10507781 |
385 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 385 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507778 rs779166212 |
389 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA10507777 rs779166212 |
389 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs772144157 CA10507779 |
389 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1245669328 CA414270484 |
390 | T>I | No |
ClinGen gnomAD |
|
|
CA414270480 rs1220863226 |
391 | I>V | No |
ClinGen gnomAD |
|
|
CA414270464 rs1484360898 |
393 | P>S | No |
ClinGen gnomAD |
|
|
rs1228050501 CA414270444 |
396 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10507759 rs776564624 |
401 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA414270375 rs1351193779 |
405 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 405 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507755 rs768732385 |
411 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs756671668 CA10507756 |
411 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1304440218 CA414270318 |
414 | N>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 415 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 420 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145905162 CA414270269 |
421 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10507752 rs770063782 |
424 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1040603389 CA335258281 |
426 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 429 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375414617 CA10507751 |
429 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751166599 CA10507749 |
430 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs751166599 CA10507748 |
430 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1114379 rs757886087 CA10507746 |
431 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10507745 rs752301346 |
433 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414270128 rs1223466145 |
441 | H>Y | No |
ClinGen TOPMed |
|
|
rs753628108 CA10507742 |
455 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10507741 rs766351139 |
456 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA414270004 rs1315115402 |
459 | F>C | No |
ClinGen gnomAD |
|
|
rs1314785338 CA414269995 |
460 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 462 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1479024113 CA414269961 |
463 | F>S | No |
ClinGen TOPMed |
|
|
CA10507733 rs746272736 |
464 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1171480335 CA414269927 |
468 | S>N | No |
ClinGen TOPMed |
|
|
rs1373020666 CA414269923 |
468 | S>R | No |
ClinGen TOPMed |
|
|
rs781674727 CA10507732 |
470 | Q>K | No |
ClinGen ExAC |
|
| TCGA novel | 471 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507731 rs771374933 |
471 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778275721 CA10507729 |
472 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10507730 rs747550303 |
472 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 474 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757863307 CA10507728 |
474 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10507727 rs752242424 |
476 | T>A | No |
ClinGen ExAC gnomAD |
|
|
COSM3708421 CA10507726 rs201564182 |
476 | T>M | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 476 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752242424 CA414269871 |
476 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA414269834 rs1206963268 |
480 | L>F | No |
ClinGen gnomAD |
|
|
CA10507716 rs759861610 |
487 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 498 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 499 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 509 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414269620 rs1224820080 |
510 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1332283961 CA414269610 |
511 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA414269577 rs1301435477 |
516 | P>S | No |
ClinGen gnomAD |
|
|
rs1479506968 CA414269521 |
522 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 522 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507706 rs748940945 |
524 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA335256548 rs963560869 |
529 | N>S | No |
ClinGen Ensembl |
|
|
CA335256547 rs1016939985 |
532 | Y>C | No |
ClinGen TOPMed |
|
|
rs1256237309 CA414269431 |
534 | S>N | No |
ClinGen gnomAD |
|
|
CA10507703 rs750213064 |
535 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA335256545 rs886442278 |
538 | L>I | No |
ClinGen gnomAD |
|
|
rs757194669 CA10507701 |
543 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1019241413 CA335256544 |
544 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 545 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1327349374 CA414269361 |
545 | T>S | No |
ClinGen gnomAD |
|
|
rs765392008 CA10507699 |
552 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748783494 CA10507688 COSM1114371 |
555 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 557 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390915997 CA414269242 |
560 | N>S | No |
ClinGen gnomAD |
|
|
COSM1243676 CA414269224 rs1160069377 |
563 | P>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA414269193 rs1400203996 |
567 | Q>H | No |
ClinGen gnomAD |
|
|
CA414269040 rs1407053185 |
587 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 590 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414269005 rs1162758422 |
591 | D>V | No |
ClinGen gnomAD |
|
|
rs867097151 CA335256148 |
606 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1302478382 CA414268800 |
619 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 619 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 626 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376015457 CA10507662 |
631 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10507661 rs754023907 |
632 | D>G | No |
ClinGen ExAC |
|
| TCGA novel | 634 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295585819 CA414268687 |
635 | I>F | No |
ClinGen TOPMed |
|
|
CA335255945 rs377034317 |
644 | S>G | No |
ClinGen ESP TOPMed |
|
|
rs372132078 CA335255944 |
649 | V>A | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 649 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507644 rs748098444 |
650 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA335255943 rs868674081 |
651 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1457956658 CA414268565 |
651 | R>H | No |
ClinGen TOPMed |
|
|
rs778934137 CA10507643 |
655 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 662 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507642 rs756271382 |
665 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 667 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335255942 rs867530332 COSM1114363 |
670 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA10507627 rs747940533 |
678 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1475819520 CA414268271 |
692 | T>I | No |
ClinGen TOPMed |
|
|
CA414268234 rs1209082428 |
697 | M>T | No |
ClinGen gnomAD |
|
|
CA414268212 rs1417696491 |
700 | L>V | No |
ClinGen TOPMed |
|
|
rs867285064 CA335255800 |
708 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 724 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 725 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414267972 rs1204468933 |
732 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 734 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 750 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335255720 rs979471831 |
770 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 778 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 784 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197165708 CA414267577 |
787 | N>K | No |
ClinGen gnomAD |
|
|
rs751945826 CA10507590 |
794 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414267514 rs1224533506 COSM610645 |
796 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1224533506 CA414267516 |
796 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 797 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766549255 CA10507588 |
802 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 805 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760784638 CA10507586 |
809 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1392340107 CA414267404 |
813 | A>T | No |
ClinGen gnomAD |
|
|
rs1395969349 CA414267393 |
814 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 815 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867769887 CA335255640 |
822 | Y>H | No |
ClinGen Ensembl |
|
|
rs1422313478 CA414267302 |
827 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756759182 CA10507571 |
830 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA335255356 rs370468544 |
831 | D>E | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 837 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363065617 CA414267199 |
840 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1202733581 CA414267155 |
846 | V>F | No |
ClinGen gnomAD |
|
| TCGA novel | 854 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414267063 rs1215066707 |
858 | A>V | No |
ClinGen TOPMed |
|
|
rs762724946 CA10507568 |
859 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10507567 rs752506299 |
865 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1273910350 CA414266979 |
871 | K>R | No |
ClinGen gnomAD |
|
|
rs1235145200 CA414266953 |
874 | D>E | No |
ClinGen gnomAD |
|
|
rs1248436563 CA414266848 |
889 | M>T | No |
ClinGen gnomAD |
|
|
rs765077700 CA10507563 |
894 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs991073315 CA335255351 |
907 | K>R | No |
ClinGen Ensembl |
|
|
rs201952458 RCV000912569 CA10507561 |
913 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1430114218 CA414266604 |
921 | P>Q | No |
ClinGen gnomAD |
|
|
rs763266379 CA10507542 |
922 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA414266509 rs1335526687 |
934 | L>F | No |
ClinGen TOPMed |
|
|
COSM1682855 rs1238661496 CA414266392 |
943 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs779529650 CA335255283 |
944 | K>R | No |
ClinGen Ensembl |
|
|
CA335255282 rs971804157 |
946 | M>V | No |
ClinGen TOPMed |
|
|
rs766995263 CA10507539 |
952 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1162509912 CA414266280 |
953 | L>V | No |
ClinGen gnomAD |
|
|
CA414266228 rs1403304532 |
957 | K>R | No |
ClinGen gnomAD |
|
|
rs746552036 CA10507536 |
962 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA414266078 rs1170733531 |
967 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 973 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 976 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507523 rs775912572 |
982 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414265872 rs1260615338 |
985 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 986 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 989 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 994 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414265787 rs1481091609 |
995 | Y>H | No |
ClinGen gnomAD |
|
|
CA414265669 rs1429208277 |
1005 | Q>E | No |
ClinGen gnomAD |
|
|
CA10507522 rs765550738 |
1008 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA414265603 rs1481836665 |
1010 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1011 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1013 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507521 rs760019062 |
1014 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1036162084 CA335255253 |
1015 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1018 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335255252 rs949772454 |
1018 | D>N | No |
ClinGen Ensembl |
|
|
CA414265431 rs1455859635 |
1020 | V>F | No |
ClinGen gnomAD |
|
|
rs754075047 CA10507501 |
1027 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs766774053 CA10507500 |
1031 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1387260425 CA414265262 |
1035 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1041 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414265179 rs1254224403 |
1042 | F>V | No |
ClinGen gnomAD |
|
|
rs1242491565 CA414265103 |
1048 | E>Q | No |
ClinGen TOPMed |
|
|
rs375378299 CA10507497 |
1054 | H>R | No |
ClinGen ESP ExAC |
|
| TCGA novel | 1080 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1084 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507478 rs762336468 |
1090 | Y>N | No |
ClinGen ExAC |
|
| TCGA novel | 1092 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs190918581 CA10507476 |
1101 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10507459 rs767870891 |
1116 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs959968169 CA335255124 |
1125 | I>T | No |
ClinGen Ensembl |
|
|
rs1400718906 CA414264231 |
1130 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1143 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1145 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1436493349 CA414263991 |
1163 | Y>F | No |
ClinGen TOPMed |
|
| TCGA novel | 1166 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507453 rs374287899 |
1167 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414263934 rs1569335121 |
1170 | S>A | No |
ClinGen Ensembl |
|
|
rs947694682 CA335255103 |
1172 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1174 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414263899 rs1353322137 |
1175 | S>G | No |
ClinGen TOPMed |
|
|
CA414263874 rs1187457240 |
1178 | S>* | No |
ClinGen gnomAD |
|
|
rs751889176 CA10507436 |
1181 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA335255100 rs751333216 |
1191 | P>S | No |
ClinGen Ensembl |
|
|
CA414263762 rs1248505410 |
1193 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs865847101 CA335255099 |
1196 | A>V | No |
ClinGen Ensembl |
|
|
rs1603241508 CA414263741 |
1197 | V>I | No |
ClinGen Ensembl |
|
|
CA414263720 rs1360236054 |
1200 | V>L | No |
ClinGen gnomAD |
|
|
CA10507431 rs759031059 |
1209 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1212 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507429 rs374426193 |
1213 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs760589559 CA10507428 |
1216 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414263597 rs1414075506 |
1219 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1222 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414263568 rs1178765098 |
1223 | S>T | No |
ClinGen TOPMed |
|
|
rs1236073817 CA414263500 |
1231 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1234 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1235 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335255087 rs1009978470 |
1240 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 1244 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414263369 rs1328938947 |
1250 | K>R | No |
ClinGen gnomAD |
|
|
rs745594715 CA10507415 |
1254 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414263322 rs1299996726 |
1257 | N>H | No |
ClinGen gnomAD |
|
|
rs754514722 CA10507413 |
1260 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA414263299 rs1350061088 |
1260 | S>P | No |
ClinGen gnomAD |
|
|
rs181722667 CA10507412 |
1261 | N>S | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 1264 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1265 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1213565131 CA414263252 |
1265 | A>T | No |
ClinGen TOPMed |
|
|
rs905259145 CA335254997 |
1270 | D>G | No |
ClinGen Ensembl |
|
|
CA414263197 rs1225074430 |
1272 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA414263184 rs1368086881 |
1274 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1276 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770958482 CA10507401 |
1279 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1280 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747237724 CA10507399 |
1283 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1283 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464658220 CA414263106 |
1284 | K>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1441240390 CA414263095 |
1285 | T>I | No |
ClinGen TOPMed |
|
|
rs1569332445 CA414263091 |
1286 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 1286 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1287 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158864651 CA414263085 |
1287 | A>V | No |
ClinGen TOPMed |
|
|
CA414263082 rs1398673737 |
1288 | T>A | No |
ClinGen gnomAD |
|
|
rs777916071 CA10507398 |
1289 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs772379634 CA414263070 COSM1114323 |
1290 | P>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10507397 rs772379634 COSM1578817 |
1290 | P>T | Variant assessed as Somatic; 0.0 impact. meninges [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748544130 CA10507396 |
1292 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314538532 CA414263046 |
1294 | V>I | No |
ClinGen TOPMed |
|
|
rs1380658362 CA414263039 |
1295 | L>V | No |
ClinGen TOPMed |
|
|
rs1471245366 CA414263016 |
1298 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1301 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414262983 rs1418912822 |
1302 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1349730915 CA414262986 |
1302 | K>R | No |
ClinGen TOPMed |
|
|
rs755492926 CA10507394 |
1303 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1303 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372924579 CA10507393 |
1307 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1442978877 CA414262939 |
1309 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 1314 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414262902 rs1202960346 |
1314 | A>T | No |
ClinGen TOPMed |
|
|
rs1458661447 CA414262842 |
1322 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1324 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1324 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335254993 rs866854608 |
1331 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 1332 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA335254992 rs866093948 |
1337 | A>T | No |
ClinGen TOPMed |
|
|
CA10507385 rs762908452 |
1342 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157231079 CA414262691 |
1342 | F>V | No |
ClinGen TOPMed |
|
|
rs775340668 CA10507384 |
1344 | T>N | No |
ClinGen ExAC |
|
|
CA414262672 rs1339252599 |
1345 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM268028 CA10507382 rs143837850 RCV000982434 |
1349 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA335254991 rs1045117 |
1349 | A>V | No |
ClinGen Ensembl |
|
| TCGA novel | 1352 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs910273128 CA335254990 |
1354 | T>A | No |
ClinGen gnomAD |
|
|
rs773375968 CA10507381 |
1358 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA10507380 rs772310418 |
1369 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs748514295 CA10507379 |
1370 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs748514295 CA414262498 |
1370 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA414262476 rs1437878390 |
1373 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1329820682 CA414262468 |
1374 | K>R | No |
ClinGen TOPMed |
|
|
rs768831443 CA10507377 |
1378 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483498582 CA414262434 |
1379 | V>I | No |
ClinGen gnomAD |
|
|
rs374759237 CA335254989 |
1381 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10507376 rs374759237 |
1381 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA414262413 rs1207698233 |
1382 | G>E | No |
ClinGen gnomAD |
|
|
rs1355623016 CA414262409 |
1383 | E>K | No |
ClinGen gnomAD |
|
|
CA335254988 rs202068837 |
1388 | S>Y | No |
ClinGen 1000Genomes |
|
|
CA414262361 rs1222842994 |
1390 | S>C | No |
ClinGen TOPMed |
|
|
CA10507375 rs780690081 |
1394 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA414262328 rs1486258262 |
1395 | V>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1398 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA414262279 rs1350858830 |
1403 | P>T | No |
ClinGen gnomAD |
|
|
rs959109498 CA335254987 |
1404 | E>D | No |
ClinGen TOPMed |
|
|
COSM1315165 rs773323309 CA10507364 |
1409 | R>C | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs866352621 CA414262215 |
1410 | R>H | No |
ClinGen gnomAD |
|
|
rs866352621 CA335254975 |
1410 | R>L | No |
ClinGen gnomAD |
|
|
CA414262196 rs1244835577 |
1413 | D>Y | No |
ClinGen gnomAD |
|
|
rs774375401 CA10507362 |
1414 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA414262187 rs1221061828 |
1414 | T>I | No |
ClinGen gnomAD |
|
|
CA10507361 rs774375401 |
1414 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA414262152 rs1341511896 |
1420 | H>Y | No |
ClinGen gnomAD |
|
|
CA335254972 rs762461070 COSM755562 |
1424 | V>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA10507343 rs751850871 |
1426 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs764409629 CA10507342 |
1427 | S>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1435 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257943573 COSM3939773 CA414261929 |
1442 | H>Y | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 1446 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507335 rs746468526 |
1446 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1449 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1458 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1474623429 CA414261707 |
1460 | L>S | No |
ClinGen TOPMed |
|
|
CA10507333 rs374867850 COSM1138062 |
1461 | D>G | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA335254555 rs867276541 |
1461 | D>N | No |
ClinGen Ensembl |
|
|
rs1413809073 CA414261646 |
1465 | E>G | No |
ClinGen TOPMed |
|
|
CA10507332 rs747738586 |
1470 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10507331 rs761011736 |
1474 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1475 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507311 rs747826328 |
1485 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1172271516 CA414261330 |
1488 | N>S | No |
ClinGen TOPMed |
|
|
rs773975737 CA10507310 |
1489 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10507309 rs768540306 |
1490 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1462611888 CA414261267 |
1494 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs960987262 CA335254534 |
1494 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA335254533 rs987969946 |
1500 | R>C | No |
ClinGen Ensembl |
|
|
rs1297704351 CA414261034 |
1507 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 1508 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307996824 CA414261025 |
1508 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1230058155 CA414261013 |
1509 | V>I | No |
ClinGen gnomAD |
|
|
CA335254529 rs899536382 |
1512 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1520 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507297 rs761088018 |
1521 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA10507296 rs773665388 |
1525 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA414260750 rs745880561 |
1527 | D>E | No |
ClinGen gnomAD |
|
|
rs1353324231 CA414260733 |
1529 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10507295 rs767032530 |
1530 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA335254527 rs889799121 |
1533 | S>P | No |
ClinGen TOPMed |
|
|
rs1400410466 CA414260614 |
1539 | E>D | No |
ClinGen gnomAD |
|
|
rs200011329 CA10507294 |
1544 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1406581789 CA414260556 |
1545 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1547 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1552 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373093074 CA10507291 |
1554 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA414260428 rs1474472931 |
1555 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs769593183 CA414260420 |
1556 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10507289 rs769593183 |
1556 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468350364 CA414260410 |
1557 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1559 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10507276 rs761373337 |
1561 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773867484 CA10507275 |
1568 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1574 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1574 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs951361113 CA335254425 |
1574 | R>W | No |
ClinGen Ensembl |
|
|
CA414259545 rs1478440119 |
1577 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1580 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1356992631 CA414259521 |
1580 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1583 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775680174 CA335254405 |
1586 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs752066937 CA10507258 |
1589 | S>L | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q8NI27
[MIM: 300957]: Intellectual developmental disorder, X-linked 12 (XLID12)
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID12 patients manifest variable degrees of intellectual disability. Commonly observed features included speech delay, elevated BMI, short stature, seizure disorders, gait disturbance, and tremors. {ECO:0000269|PubMed:26166480}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations. XLID12 patients manifest variable degrees of intellectual disability. Commonly observed features included speech delay, elevated BMI, short stature, seizure disorders, gait disturbance, and tremors. {ECO:0000269|PubMed:26166480}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q8NI27
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | THO complex, subunitTHOC2, C-terminal | 873 - 1173 | IPR021418 |
| domain | THO complex, subunitTHOC2, N-terminal | 568 - 643 | IPR021726 |
| domain | THO complex subunit 2, N-terminal domain | 11 - 401 | IPR032302-1 |
| domain | THO complex subunit 2, N-terminal domain | 420 - 566 | IPR032302-2 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| 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. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| blastocyst development | The process whose specific outcome is the progression of the blastocyst over time, from its formation to the mature structure. The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm. |
| cell morphogenesis | The developmental process in which the size or shape of a cell is generated and organized. |
| generation of neurons | The process in which nerve cells are generated. This includes the production of neuroblasts and their differentiation into neurons. |
| 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 neuron projection development | Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| neuron development | The process whose specific outcome is the progression of a neuron over time, from initial commitment of the cell to a specific fate, to the fully functional differentiated cell. |
| poly(A)+ mRNA export from nucleus | The directed movement of poly(A)+ mRNA out of the nucleus into the cytoplasm. |
| regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| regulation of mRNA export from nucleus | Any process that modulates the frequency, rate or extent of the directed movement of mRNA from the nucleus to the cytoplasm. |
| 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. |
| stem cell division | The self-renewing division of a stem cell. A stem cell is an undifferentiated cell, in the embryo or adult, that can undergo unlimited division and give rise to one or several different cell types. |
| viral mRNA export from host cell nucleus | The directed movement of intronless viral mRNA from the host nucleus to the cytoplasm for translation. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAAAVVVPA | EWIKNWEKSG | RGEFLHLCRI | LSENKSHDSS | TYRDFQQALY | ELSYHVIKGN |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LKHEQASNVL | SDISEFREDM | PSILADVFCI | LDIETNCLEE | KSKRDYFTQL | VLACLYLVSD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TVLKERLDPE | TLESLGLIKQ | SQQFNQKSVK | IKTKLFYKQQ | KFNLLREENE | GYAKLIAELG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QDLSGSITSD | LILENIKSLI | GCFNLDPNRV | LDVILEVFEC | RPEHDDFFIS | LLESYMSMCE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PQTLCHILGF | KFKFYQEPNG | ETPSSLYRVA | AVLLQFNLID | LDDLYVHLLP | ADNCIMDEHK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| REIAEAKQIV | RKLTMVVLSS | EKMDEREKEK | EKEEEKVEKP | PDNQKLGLLE | ALLKIGDWQH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AQNIMDQMPP | YYAASHKLIA | LAICKLIHIT | IEPLYRRVGV | PKGAKGSPVN | ALQNKRAPKQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| AESFEDLRRD | VFNMFCYLGP | HLSHDPILFA | KVVRIGKSFM | KEFQSDGSKQ | EDKEKTEVIL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SCLLSITDQV | LLPSLSLMDC | NACMSEELWG | MFKTFPYQHR | YRLYGQWKNE | TYNSHPLLVK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VKAQTIDRAK | YIMKRLTKEN | VKPSGRQIGK | LSHSNPTILF | DYILSQIQKY | DNLITPVVDS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LKYLTSLNYD | VLAYCIIEAL | ANPEKERMKH | DDTTISSWLQ | SLASFCGAVF | RKYPIDLAGL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LQYVANQLKA | GKSFDLLILK | EVVQKMAGIE | ITEEMTMEQL | EAMTGGEQLK | AEGGYFGQIR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NTKKSSQRLK | DALLDHDLAL | PLCLLMAQQR | NGVIFQEGGE | KHLKLVGKLY | DQCHDTLVQF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GGFLASNLST | EDYIKRVPSI | DVLCNEFHTP | HDAAFFLSRP | MYAHHISSKY | DELKKSEKGS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KQQHKVHKYI | TSCEMVMAPV | HEAVVSLHVS | KVWDDISPQF | YATFWSLTMY | DLAVPHTSYE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| REVNKLKVQM | KAIDDNQEMP | PNKKKKEKER | CTALQDKLLE | EEKKQMEHVQ | RVLQRLKLEK |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| DNWLLAKSTK | NETITKFLQL | CIFPRCIFSA | IDAVYCARFV | ELVHQQKTPN | FSTLLCYDRV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| FSDIIYTVAS | CTENEASRYG | RFLCCMLETV | TRWHSDRATY | EKECGNYPGF | LTILRATGFD |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| GGNKADQLDY | ENFRHVVHKW | HYKLTKASVH | CLETGEYTHI | RNILIVLTKI | LPWYPKVLNL |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| GQALERRVHK | ICQEEKEKRP | DLYALAMGYS | GQLKSRKSYM | IPENEFHHKD | PPPRNAVASV |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| QNGPGGGPSS | SSIGSASKSD | ESSTEETDKS | RERSQCGVKA | VNKASSTTPK | GNSSNGNSGS |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| NSNKAVKEND | KEKGKEKEKE | KKEKTPATTP | EARVLGKDGK | EKPKEERPNK | DEKARETKER |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| TPKSDKEKEK | FKKEEKAKDE | KFKTTVPNAE | SKSTQERERE | KEPSRERDIA | KEMKSKENVK |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| GGEKTPVSGS | LKSPVPRSDI | PEPEREQKRR | KIDTHPSPSH | SSTVKDSLIE | LKESSAKLYI |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| NHTPPPLSKS | KEREMDKKDL | DKSRERSRER | EKKDEKDRKE | RKRDHSNNDR | EVPPDLTKRR |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| KEENGTMGVS | KHKSESPCES | PYPNEKDKEK | NKSKSSGKEK | GSDSFKSEKM | DKISSGGKKE |
| 1570 | 1580 | 1590 | |||
| SRHDKEKIEK | KEKRDSSGGK | EEKKHHKSSD | KHR |