Q8TB03
Gene name |
CXorf38 |
Protein name |
Uncharacterized protein CXorf38 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:159013 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q8TB03
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TB03-F1 | Predicted | AlphaFoldDB |
170 variants for Q8TB03
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 3 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326497887 CA412757693 |
4 | S>P | No |
ClinGen gnomAD |
|
|
rs1162477471 CA412757639 |
7 | A>S | No |
ClinGen gnomAD |
|
|
rs1419221605 CA412757622 |
7 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10387514 rs774395912 |
8 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA10387513 rs771151809 |
8 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10387512 rs749374090 |
9 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427415909 CA412757572 |
9 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1427415909 CA412757564 |
9 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA412757539 rs1196026258 |
11 | N>S | No |
ClinGen gnomAD |
|
|
CA412757521 rs1196765376 |
12 | C>F | No |
ClinGen gnomAD |
|
|
rs960402647 CA328986675 |
12 | C>R | No |
ClinGen gnomAD |
|
|
CA10387510 rs375122945 |
13 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412757338 rs1348675258 |
18 | W>C | No |
ClinGen gnomAD |
|
|
rs1227046913 CA412757348 |
18 | W>S | No |
ClinGen gnomAD |
|
|
rs767570312 CA10387508 COSM1557572 |
21 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA412757247 rs1368744129 |
24 | C>Y | No |
ClinGen gnomAD |
|
|
CA412757222 rs6610447 |
26 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10387506 rs6610447 |
26 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10387503 rs753358236 |
29 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1428760364 CA412757144 |
30 | S>G | No |
ClinGen gnomAD |
|
|
CA412756961 rs1175007410 |
37 | G>D | No |
ClinGen gnomAD |
|
|
CA10387502 rs763594418 |
38 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412756776 rs1393470723 |
45 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs967939741 CA328986595 |
45 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA10387501 rs760702332 |
46 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1248937227 CA412756747 |
47 | L>P | No |
ClinGen gnomAD |
|
|
rs1486146252 CA412756742 |
48 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA412756716 rs767451859 |
49 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10387499 rs767451859 |
49 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10387498 rs774172659 |
50 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412756696 rs1345574427 |
50 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774172659 CA10387497 |
50 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412756669 rs1392884467 |
51 | A>G | No |
ClinGen TOPMed |
|
|
rs1392884467 CA412756668 |
51 | A>V | No |
ClinGen TOPMed |
|
|
CA412756649 rs1239765456 |
52 | P>L | No |
ClinGen gnomAD |
|
|
CA412756582 rs1433711299 |
56 | P>L | No |
ClinGen TOPMed |
|
|
CA412756596 rs1337285278 |
56 | P>T | No |
ClinGen gnomAD |
|
|
CA10387496 rs771114481 |
57 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA412756555 rs1408794340 |
58 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1408794340 CA412756559 |
58 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1478082839 CA412756506 |
60 | C>Y | No |
ClinGen gnomAD |
|
|
rs773167024 CA10387494 |
62 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769803715 CA412756450 |
63 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10387493 rs769803715 |
63 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781697209 CA10387491 |
65 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10387492 rs748673142 |
65 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233808613 CA412756348 |
68 | P>L | No |
ClinGen TOPMed |
|
|
rs1347255142 CA412756333 |
69 | R>H | No |
ClinGen TOPMed |
|
|
CA10387489 rs747394149 |
70 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 70 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412756310 rs1284197183 |
71 | R>C | No |
ClinGen TOPMed |
|
|
rs1019310811 CA328986265 |
78 | Q>R | No |
ClinGen TOPMed |
|
|
rs748925147 CA10387466 |
79 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA412756079 rs1270224428 |
79 | V>L | No |
ClinGen gnomAD |
|
|
CA328986252 rs1022641562 |
80 | C>* | No |
ClinGen Ensembl |
|
|
rs1325131094 CA412756059 |
80 | C>F | No |
ClinGen gnomAD |
|
|
rs777608701 CA10387464 |
81 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1397115520 CA412755600 |
82 | E>D | No |
ClinGen gnomAD |
|
|
rs755805367 CA10387463 |
85 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs988036372 CA328986223 |
88 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA10387462 rs752311318 |
90 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752311318 CA412755467 |
90 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780843289 CA10387461 |
91 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA412755453 rs956786395 |
91 | H>P | No |
ClinGen gnomAD |
|
|
rs956786395 CA328986193 |
91 | H>R | No |
ClinGen gnomAD |
|
|
CA10387459 rs751453538 |
95 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766106563 CA10387458 |
97 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs750167376 CA10387456 |
99 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs899908254 CA328986184 |
100 | W>* | No |
ClinGen Ensembl |
|
|
CA10387455 rs765505908 |
101 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1273278909 CA412755276 |
101 | G>R | No |
ClinGen gnomAD |
|
|
rs762021259 CA10387454 |
102 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10387453 rs776699513 |
103 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 106 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA412755181 rs1256722215 |
107 | R>C | No |
ClinGen TOPMed |
|
|
rs768666799 CA10387452 |
108 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs761110465 CA10387451 |
110 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs776025918 CA10387450 |
114 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA412755098 COSM388024 rs1408477201 |
116 | A>P | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs750288425 CA10387434 |
120 | M>L | No |
ClinGen ExAC |
|
|
CA412753565 rs1318840802 |
122 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs764948615 CA10387433 |
122 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412753552 rs1286727783 |
123 | G>R | No |
ClinGen gnomAD |
|
|
rs754012350 CA10387431 |
124 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866436566 CA328982073 |
127 | K>E | No |
ClinGen Ensembl |
|
|
CA10387428 rs775409361 |
133 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA328982049 rs867619527 |
136 | V>F | No |
ClinGen TOPMed |
|
|
rs774859426 CA10387425 |
143 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs945585403 CA328982033 |
146 | D>E | No |
ClinGen TOPMed |
|
|
rs771360730 CA10387424 |
146 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10387423 rs776378344 |
149 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs776378344 CA10387422 |
149 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs945134098 CA412752837 |
152 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs945134098 CA328982003 |
152 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10387421 rs768158728 |
152 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs373499837 CA10387420 |
154 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779429089 CA10387419 |
155 | V>G | No |
ClinGen ExAC |
|
|
rs756581758 CA328981964 |
156 | T>A | No |
ClinGen TOPMed |
|
|
CA10387417 rs145752299 |
157 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10387407 rs774947484 |
160 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA10387406 rs376500009 |
162 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA328980945 rs372043596 |
165 | I>L | No |
ClinGen TOPMed |
|
|
CA412751741 rs1464873053 |
166 | M>T | No |
ClinGen gnomAD |
|
|
rs1602423067 CA412751715 |
170 | E>Q | No |
ClinGen Ensembl |
|
|
CA412751696 rs1235684151 |
172 | K>* | No |
ClinGen TOPMed |
|
|
CA412751697 rs1235684151 |
172 | K>E | No |
ClinGen TOPMed |
|
|
rs17145855 CA10387403 VAR_050936 |
176 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs746578704 CA10387402 |
176 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775083103 CA10387401 |
178 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771435510 CA10387400 |
179 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA412751653 rs1309308943 |
179 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 180 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745838892 CA10387399 |
183 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1226026088 CA412751601 |
186 | Q>* | No |
ClinGen gnomAD |
|
|
rs1569270634 CA412751586 |
188 | F>L | No |
ClinGen Ensembl |
|
|
CA412751546 rs1364399551 |
193 | K>R | No |
ClinGen gnomAD |
|
|
CA412751529 rs1602422923 |
195 | I>M | No |
ClinGen Ensembl |
|
|
rs778863045 CA10387398 |
195 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA412751510 rs1251843759 |
198 | I>T | No |
ClinGen TOPMed |
|
|
CA412751479 rs1388397578 |
203 | S>A | No |
ClinGen gnomAD |
|
|
CA641464950 rs1292573635 |
206 | E>I | No |
ClinGen gnomAD |
|
|
rs1195493029 CA412751452 |
207 | Q>E | No |
ClinGen TOPMed |
|
|
CA10387396 rs146808310 |
207 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs988206381 | 208 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1467931 rs34678039 CA10387385 |
210 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774967282 CA10387383 |
215 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1428531802 CA412751318 |
218 | P>A | No |
ClinGen gnomAD |
|
|
rs773838974 CA10387380 |
219 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372303197 CA10387379 |
220 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1394617674 CA412751260 |
221 | D>H | No |
ClinGen TOPMed |
|
|
rs749154771 CA10387378 |
223 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10387377 rs777636638 |
223 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249892251 CA412750935 |
231 | G>E | No |
ClinGen gnomAD |
|
|
CA412750700 rs1486034020 |
238 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 241 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234698189 CA412750576 |
242 | I>T | No |
ClinGen TOPMed |
|
|
CA10387374 rs781304930 |
248 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA10387373 rs368399956 COSM1467930 |
249 | E>D | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA412750425 rs1342823688 |
250 | K>Q | No |
ClinGen gnomAD |
|
|
CA412750375 rs1255149514 |
252 | Q>K | No |
ClinGen gnomAD |
|
|
rs1286054280 CA412750330 |
254 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs780221177 CA10387371 |
254 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA10387370 rs758989465 |
255 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370266199 CA412750297 COSM1121238 |
256 | L>I | Variant assessed as Somatic; 6.283e-05 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs370266199 CA328980686 |
256 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA328980680 rs1006208664 |
258 | A>E | No |
ClinGen Ensembl |
|
|
CA412750154 rs1335653796 |
262 | E>G | No |
ClinGen gnomAD |
|
|
CA10387369 rs374475948 |
264 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10387354 rs769007634 |
271 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1602417100 CA412763245 |
275 | V>A | No |
ClinGen Ensembl |
|
|
CA329008594 rs927084712 |
277 | E>K | No |
ClinGen Ensembl |
|
|
rs756287646 CA10387353 |
280 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780305790 CA10387352 |
283 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA412762436 rs1319545095 |
284 | D>G | No |
ClinGen gnomAD |
|
|
rs758515372 CA10387351 |
293 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs142743216 CA10387350 |
294 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757769666 CA10387348 |
297 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs779340340 CA10387349 |
297 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs754223811 CA10387347 |
299 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10387345 rs754638331 |
304 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412761957 rs1254146768 |
308 | Q>* | No |
ClinGen gnomAD |
|
|
rs1189100289 COSM1714891 CA412761945 |
308 | Q>H | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs141391425 CA10387344 |
309 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765901389 CA10387343 |
313 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147827701 COSM3379627 CA10387342 |
313 | Q>H | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs954659521 CA329008521 |
316 | D>E | No |
ClinGen Ensembl |
|
|
CA412761846 rs1291570538 |
317 | R>G | No |
ClinGen gnomAD |
|
|
CA329008517 rs992939283 |
318 | K>N | No |
ClinGen TOPMed |
|
|
CA412761817 rs1264748272 |
320 | A>R | No |
ClinGen TOPMed |
No associated diseases with Q8TB03
No regional properties for Q8TB03
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q8TB03 | |||
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8C5K5 | Uncharacterized protein CXorf38 homolog | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVLSELAARL | NCAEYKNWVK | AGHCLLLLRS | CLQGFVGREV | LSFHRGLLAA | APGLGPRAVC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RGGSRCSPRA | RQFQPQCQVC | AEWKREILRH | HVNRNGDVHW | GNCRPGRWPV | DAWEVAKAFM |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PRGLADKQGP | EECDAVALLS | LINSCDHFVV | DRKKVTEVIK | CRNEIMHSSE | MKVSSTWLRD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FQMKIQNFLN | EFKNIPEIVA | VYSRIEQLLT | SDWAVHIPEE | DQRDGCECEM | GTYLSESQVN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EIEMQLLKEK | LQEIYLQAEE | QEVLPEELSN | RLEVVKEFLR | NNEDLRNGLT | EDMQKLDSLC |
| 310 | |||||
| LHQKLDSQEP | GRQTPDRKA |