Q9UNF1
PR
Gene name |
MAGED2 (BCG1) |
Protein name |
Melanoma-associated antigen D2 |
Names |
11B6, Breast cancer-associated gene 1 protein, BCG-1, Hepatocellular carcinoma-associated protein JCL-1, MAGE-D2 antigen |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10916 |
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 Q9UNF1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UNF1-F1 | Predicted | AlphaFoldDB |
281 variants for Q9UNF1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000211479 rs878854406 |
129 | V>missing | Bartter disease type 5 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs875989852 RCV000211438 CA10576213 |
133 | K>* | Bartter disease type 5 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1114167295 RCV000491895 |
335 | Q>missing | Dandy-Walker syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000211517 CA10576209 rs878854404 |
346 | Y>* | Bartter disease type 5 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs141904298 RCV003169436 RCV000942733 CA10426823 |
404 | I>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10576212 rs878854407 VAR_076836 RCV000211522 |
446 | R>C | Bartter disease type 5 BARTS5; loss of interaction with GNAS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
| VAR_076837 | 488 | E>del | BARTS5 [UniProt] | Yes | UniProt |
|
rs1388401939 COSM1468697 CA413263831 |
2 | S>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA10426626 rs750624649 |
4 | T>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 7 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432705662 CA413263968 |
8 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 9 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413264251 rs1322233424 |
21 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1487623104 CA413264272 |
22 | D>G | No |
ClinGen TOPMed |
|
|
CA413264322 rs1265121302 |
24 | S>N | No |
ClinGen TOPMed |
|
|
CA413264343 rs774057511 |
25 | S>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1123502 rs774057511 CA10426637 |
25 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs769357290 CA10426639 |
27 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs200706314 CA10426638 |
27 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs147495006 CA10426640 |
31 | L>W | No |
ClinGen ESP ExAC TOPMed |
|
|
rs201160051 CA10426642 |
43 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs11555928 RCV000513922 CA10426644 |
44 | K>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 44 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254401711 CA413264722 |
45 | A>D | No |
ClinGen gnomAD |
|
|
CA413265016 rs1602075139 |
61 | S>F | No |
ClinGen Ensembl |
|
|
CA413265052 rs1569544533 |
63 | V>A | No |
ClinGen Ensembl |
|
|
rs751676539 CA328937903 |
63 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751676539 CA10426648 |
63 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA328937909 rs994618387 |
65 | K>E | No |
ClinGen TOPMed |
|
|
rs11555930 CA328937911 |
66 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 68 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1415027568 CA413265154 |
69 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA328937924 rs868270989 |
73 | P>T | No |
ClinGen Ensembl |
|
|
CA10426651 rs781247578 |
75 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA328937936 rs767820484 |
76 | R>G | No |
ClinGen TOPMed |
|
|
CA10426653 rs148790335 COSM1579237 |
76 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs767820484 CA328937939 |
76 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs777456577 CA10426654 |
79 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 80 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413265370 rs1486743215 |
81 | T>A | No |
ClinGen gnomAD |
|
|
CA10426655 rs749072773 |
81 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10426656 rs749072773 |
81 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs778707488 CA10426657 |
82 | Q>H | No |
ClinGen ExAC |
|
|
CA413265419 rs1266898191 |
83 | A>V | No |
ClinGen TOPMed |
|
|
rs745432175 CA10426658 |
84 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413265467 rs1408706654 |
87 | T>A | No |
ClinGen gnomAD |
|
|
CA413265484 rs1432384861 |
88 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA328937967 rs6614290 |
88 | Q>H | No |
ClinGen Ensembl |
|
|
CA413265571 rs1216071688 |
92 | T>I | No |
ClinGen TOPMed |
|
|
CA413265566 rs1216071688 |
92 | T>N | No |
ClinGen TOPMed |
|
|
CA413265600 rs1348468833 |
94 | V>F | No |
ClinGen TOPMed |
|
|
CA328937971 rs760829080 |
97 | A>G | No |
ClinGen Ensembl |
|
|
CA413265740 rs1173618032 |
101 | S>N | No |
ClinGen gnomAD |
|
|
rs748635209 CA10426661 |
106 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA413265811 rs1368132334 |
107 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10426662 rs770287312 |
107 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1411184093 CA413265892 |
112 | D>Y | No |
ClinGen gnomAD |
|
|
CA413265911 rs1374784246 |
113 | P>A | No |
ClinGen gnomAD |
|
|
rs763271575 CA10426664 |
113 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs185932631 CA413265929 |
114 | Q>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10426666 rs185932631 |
114 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371162915 CA10426668 |
115 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759692914 CA10426667 |
115 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA328938006 rs371162915 |
115 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1206628284 CA413266024 CA413266022 |
118 | M>I | No |
ClinGen gnomAD |
|
|
rs1254695313 CA413266218 |
126 | V>D | No |
ClinGen gnomAD |
|
|
CA10426671 rs764063667 |
126 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA10426672 rs753756584 |
131 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10426673 rs757108375 |
132 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs875989852 CA413266385 |
133 | K>E | No |
ClinGen gnomAD |
|
|
CA413266409 rs1348772214 |
134 | V>I | No |
ClinGen gnomAD |
|
|
CA413266467 rs1457878107 |
136 | T>A | No |
ClinGen gnomAD |
|
|
rs745521206 CA10426675 |
136 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413266666 rs1373675678 |
143 | A>V | No |
ClinGen gnomAD |
|
|
rs1008575161 CA328938037 |
146 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 146 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261355064 CA413266760 |
147 | Q>R | No |
ClinGen TOPMed |
|
|
CA10426676 rs758029411 |
149 | P>S | No |
ClinGen ExAC |
|
|
CA10426677 rs779453522 |
150 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10426678 rs746508104 |
153 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs746508104 CA413266902 |
153 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA413266925 rs1216531939 |
154 | E>Q | No |
ClinGen gnomAD |
|
|
rs770241601 CA10426679 |
155 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA413267102 rs1274913735 |
160 | A>T | No |
ClinGen gnomAD |
|
|
CA413267157 rs1187773795 |
161 | Q>H | No |
ClinGen gnomAD |
|
|
rs1198665428 CA413267151 |
161 | Q>P | No |
ClinGen TOPMed |
|
|
rs372980079 CA328938053 |
162 | S>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376206910 CA10426682 |
166 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1337917207 CA413267297 |
168 | T>A | No |
ClinGen TOPMed |
|
|
rs1569544585 CA413267307 |
168 | T>I | No |
ClinGen Ensembl |
|
|
rs1202050376 CA413267315 |
169 | R>Q | No |
ClinGen gnomAD |
|
|
CA413267314 rs1186714497 |
169 | R>W | No |
ClinGen gnomAD |
|
|
CA10426684 rs759704782 |
171 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767728271 CA10426685 |
178 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10426686 rs775474912 |
178 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA328938191 rs1033363510 |
184 | D>Y | No |
ClinGen TOPMed |
|
|
rs758038664 CA10426697 |
185 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10426698 VAR_053508 RCV000961818 rs12014977 |
187 | E>D | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs751096381 CA10426699 |
188 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA413267811 rs1273230324 |
191 | S>R | No |
ClinGen TOPMed |
|
|
CA10426700 rs754497190 |
192 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1558601 rs1402748229 CA413267887 |
194 | S>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs780622232 CA10426701 |
194 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10426702 rs749796098 |
195 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1436015381 CA413267938 |
196 | A>V | No |
ClinGen TOPMed |
|
|
CA10426704 rs779268605 |
203 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA413268162 rs1227741576 |
209 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413268156 rs1174220114 |
209 | L>V | No |
ClinGen TOPMed |
|
|
rs1602076251 CA413268225 |
213 | M>V | No |
ClinGen Ensembl |
|
|
CA413268261 rs1224065321 |
215 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs867098630 COSM1468703 CA328938211 |
215 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 216 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1190463596 CA413268334 |
219 | R>K | No |
ClinGen TOPMed |
|
|
CA328938216 rs768866249 |
226 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA10426709 rs768866249 |
226 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1428039818 CA413268467 |
227 | R>C | No |
ClinGen gnomAD |
|
|
rs199838183 CA10426710 |
227 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10426712 rs765245524 |
229 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs750226910 CA10426713 |
231 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 231 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10426714 rs762802111 |
232 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1471441361 CA413268538 |
233 | R>Q | No |
ClinGen gnomAD |
|
|
CA413268553 rs1159569374 |
235 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10426716 rs751237092 |
236 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA413268612 rs1359410953 |
239 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs754520173 CA10426717 |
239 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA413268815 rs752150960 |
251 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10426719 rs752150960 |
251 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs746278493 CA10426722 |
256 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA328938253 rs1047870600 |
256 | R>H | No |
ClinGen gnomAD |
|
|
CA413268927 rs1274075985 |
257 | R>C | No |
ClinGen gnomAD |
|
|
CA328938258 rs368156326 |
257 | R>H | No |
ClinGen ESP gnomAD |
|
|
rs906765792 CA328938261 |
258 | R>G | No |
ClinGen Ensembl |
|
|
rs780220478 CA10426724 |
259 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA413268963 rs1569544611 |
259 | A>V | No |
ClinGen Ensembl |
|
|
CA413268971 rs1280532620 |
260 | A>T | No |
ClinGen gnomAD |
|
|
rs1340854283 CA413268989 |
261 | K>T | No |
ClinGen gnomAD |
|
|
VAR_011639 rs1021000890 CA328938264 |
266 | Q>R | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
| TCGA novel | 267 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413269145 rs1252035752 |
267 | E>D | No |
ClinGen gnomAD |
|
|
rs747287337 CA10426725 COSM3845119 |
267 | E>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1440107209 CA413270989 |
271 | P>L | No |
ClinGen gnomAD |
|
|
rs1003828385 CA328938266 |
272 | P>L | No |
ClinGen TOPMed |
|
|
CA10426727 rs776901422 |
274 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413271058 rs776901422 |
274 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1123506 CA413271053 rs1246522412 |
274 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1400604565 CA413271137 |
277 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10426742 rs372339836 |
295 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10426743 RCV000895346 rs138036392 |
296 | T>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781562704 CA328938373 |
298 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781562704 CA10426745 |
298 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755292405 CA10426744 |
298 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317585408 CA413271685 |
301 | K>R | No |
ClinGen TOPMed |
|
|
CA413271702 rs1326522151 |
302 | R>C | No |
ClinGen gnomAD |
|
|
CA413271705 COSM191867 rs1313524920 |
302 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| rs771039734 | 303 | S>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1262854099 CA413271847 |
305 | M>I | No |
ClinGen gnomAD |
|
|
CA413271889 rs1193138417 |
308 | D>N | No |
ClinGen TOPMed |
|
|
CA10426764 rs756360755 |
314 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA10426766 rs749305354 |
318 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 323 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413272168 rs1283830375 |
327 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 332 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352232794 CA413272230 |
333 | G>W | No |
ClinGen gnomAD |
|
|
rs191668283 CA413272249 |
336 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 341 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756408108 CA10426782 |
343 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 343 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs184999100 CA328938938 |
349 | L>V | No |
ClinGen 1000Genomes |
|
|
rs781549172 CA328938941 |
350 | S>G | No |
ClinGen Ensembl |
|
|
CA10426783 rs139029259 |
355 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1405955661 CA413272409 |
358 | G>V | No |
ClinGen TOPMed |
|
|
rs1373537197 CA413272423 |
359 | I>M | No |
ClinGen gnomAD |
|
|
rs1301701102 CA413272411 |
359 | I>V | No |
ClinGen gnomAD |
|
|
CA413272465 rs1272429541 |
362 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 363 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 372 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1682647 rs147480000 CA328939384 |
385 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA10426798 rs768115012 |
389 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439858961 CA413272976 |
391 | I>T | No |
ClinGen gnomAD |
|
|
CA413273024 rs1289565125 |
395 | L>M | No |
ClinGen gnomAD |
|
|
CA413273037 rs1354860251 |
396 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 397 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10426809 rs746882460 |
401 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA413273218 rs1314861690 |
405 | H>R | No |
ClinGen gnomAD |
|
|
CA413273378 rs1441365927 |
413 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs758463316 CA10426825 |
413 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10426826 rs766390320 |
417 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA413273882 rs1380149078 |
429 | A>V | No |
ClinGen gnomAD |
|
|
rs1419874855 CA413273905 |
431 | V>I | No |
ClinGen TOPMed |
|
|
CA10426873 rs375724669 |
433 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413273978 rs1293152155 |
434 | S>R | No |
ClinGen gnomAD |
|
|
CA10426874 rs778624859 |
435 | N>S | No |
ClinGen ExAC |
|
|
rs369099604 CA10426875 |
436 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413274100 rs1266386146 |
443 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 443 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203579605 CA413274159 |
448 | Y>S | No |
ClinGen gnomAD |
|
|
CA10426877 rs780966437 |
449 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 451 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_036584 | 458 | K>Q | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
| TCGA novel | 460 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA328940626 rs943874968 |
465 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 472 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764094559 CA10426889 |
472 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 473 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249585923 CA413275840 |
476 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM257349 CA10426891 rs765344449 |
476 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA413275904 rs1259510362 |
478 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA413275915 rs1338951450 |
479 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 479 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413275997 rs1401577789 |
482 | D>N | No |
ClinGen TOPMed |
|
|
rs757951021 CA10426894 |
485 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463439498 CA413276097 |
486 | A>T | No |
ClinGen TOPMed |
|
|
COSM1558597 rs779634966 CA10426895 |
488 | E>K | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA10426897 rs756650378 |
489 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396235427 CA413276257 |
494 | K>T | No |
ClinGen gnomAD |
|
|
rs1311904965 CA413276335 |
498 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 499 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 502 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749710147 CA10426899 |
502 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA328940685 rs947388507 |
507 | L>F | No |
ClinGen TOPMed |
|
|
rs1301382133 CA413276482 |
509 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1200366548 COSM290183 CA413276697 |
520 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA413276757 rs1453457173 |
524 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1191317538 CA413276774 |
525 | P>A | No |
ClinGen gnomAD |
|
|
rs1191317538 CA413276777 |
525 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761593066 CA10426908 |
532 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 533 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 533 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA413276973 rs1460898784 |
535 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA413276971 rs1460898784 |
535 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA413277011 rs1602080404 |
537 | A>T | No |
ClinGen Ensembl |
|
|
CA328940716 rs1804969 |
544 | S>I | No |
ClinGen Ensembl |
|
|
rs1333837681 CA413277127 |
544 | S>R | No |
ClinGen gnomAD |
|
|
rs1401436277 CA413277137 |
545 | G>D | No |
ClinGen gnomAD |
|
|
CA328940721 rs1037200660 |
546 | S>T | No |
ClinGen gnomAD |
|
|
CA413277169 rs1440478207 |
547 | A>V | No |
ClinGen gnomAD |
|
|
CA413277191 rs1324069265 |
549 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA413277205 rs1394160922 |
550 | G>D | No |
ClinGen TOPMed |
|
|
CA10426911 rs143128713 |
553 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1220358457 CA413277264 |
555 | T>A | No |
ClinGen gnomAD |
|
|
CA10426912 rs762712208 |
556 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA413277306 rs1364044575 |
557 | N>K | No |
ClinGen TOPMed |
|
|
rs765982882 CA10426915 |
557 | N>S | No |
ClinGen ExAC TOPMed |
|
|
rs1211453050 CA413277318 |
558 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA328940775 rs1044558946 |
560 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA10426916 rs751132389 |
560 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA328940796 rs763080639 |
563 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs866299239 CA328940808 |
563 | A>V | No |
ClinGen Ensembl |
|
|
rs766954953 CA10426919 |
564 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA413277432 rs1163113689 |
568 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 569 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10426921 rs757663000 |
570 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437424745 CA413277445 |
570 | S>N | No |
ClinGen gnomAD |
|
|
CA413277453 rs1359906547 |
571 | A>V | No |
ClinGen gnomAD |
|
|
rs1335347473 CA413277473 |
573 | A>T | No |
ClinGen gnomAD |
|
|
rs1401791556 CA413277479 |
573 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10426923 rs376899197 COSM1194223 |
577 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1355853478 CA413277531 |
577 | A>V | No |
ClinGen TOPMed |
|
|
CA413277552 rs1291734003 |
579 | L>P | No |
ClinGen gnomAD |
|
|
rs1321991495 CA413277566 |
580 | T>I | No |
ClinGen gnomAD |
|
|
rs1214583033 CA413277601 |
583 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs200491129 CA328940868 |
585 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200491129 CA10426925 |
585 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 585 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747171863 CA10426926 |
587 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747171863 CA413277648 |
587 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1033458386 CA328940885 |
588 | G>D | No |
ClinGen Ensembl |
|
|
CA413277655 rs1475157875 |
588 | G>S | No |
ClinGen gnomAD |
|
|
CA328940916 rs961316907 |
590 | A>G | No |
ClinGen TOPMed |
|
|
rs768864626 CA10426928 |
590 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA328940895 rs768864626 |
590 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413277717 rs1180524759 |
593 | S>N | No |
ClinGen gnomAD |
|
|
CA413277802 rs1416364834 |
598 | S>C | No |
ClinGen gnomAD |
|
|
rs1416364834 CA413277799 |
598 | S>Y | No |
ClinGen gnomAD |
|
|
CA413277826 rs1406204094 |
600 | A>T | No |
ClinGen gnomAD |
|
|
rs1158593628 CA413277842 |
600 | A>V | No |
ClinGen gnomAD |
|
|
rs1341628960 CA413277850 |
601 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1341628960 CA413277853 |
601 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA413277916 rs1421518257 |
604 | S>Y | No |
ClinGen gnomAD |
1 associated diseases with Q9UNF1
[MIM: 300971]: Bartter syndrome 5, antenatal, transient (BARTS5)
An X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age. {ECO:0000269|PubMed:27120771}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An X-linked recessive form of Bartter syndrome, a disorder characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BARTS5 is an antenatal form beginning in utero with marked fetal polyuria that leads to polyhydramnios and premature delivery. It is characterized by severe but transient symptoms that can resolve with age. {ECO:0000269|PubMed:27120771}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q9UNF1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | MAGE homology domain | 279 - 478 | IPR002190 |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| 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. |
| platelet alpha granule lumen | The volume enclosed by the membrane of the platelet alpha granule. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| female pregnancy | The set of physiological processes that allow an embryo or foetus to develop within the body of a female animal. It covers the time from fertilization of a female ovum by a male spermatozoon until birth. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| renal sodium ion absorption | A renal system process in which sodium ions are taken up from the collecting ducts and proximal and distal loops of the nephron. In non-mammalian species, absorption may occur in related structures. |
18 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43356 | MAGEA2B | Melanoma-associated antigen 2 | Homo sapiens (Human) | PR |
| O15479 | MAGEB2 | Melanoma-associated antigen B2 | Homo sapiens (Human) | PR |
| Q96MG7 | NSMCE3 | Non-structural maintenance of chromosomes element 3 homolog | Homo sapiens (Human) | PR |
| Q8TD90 | MAGEE2 | Melanoma-associated antigen E2 | Homo sapiens (Human) | PR |
| O15480 | MAGEB3 | Melanoma-associated antigen B3 | Homo sapiens (Human) | PR |
| P43365 | MAGEA12 | Melanoma-associated antigen 12 | Homo sapiens (Human) | PR |
| P43361 | MAGEA8 | Melanoma-associated antigen 8 | Homo sapiens (Human) | PR |
| P43364 | MAGEA11 | Melanoma-associated antigen 11 | Homo sapiens (Human) | PR |
| P43355 | MAGEA1 | Melanoma-associated antigen 1 | Homo sapiens (Human) | PR |
| P43358 | MAGEA4 | Melanoma-associated antigen 4 | Homo sapiens (Human) | PR |
| P43357 | MAGEA3 | Melanoma-associated antigen 3 | Homo sapiens (Human) | PR |
| P43360 | MAGEA6 | Melanoma-associated antigen 6 | Homo sapiens (Human) | PR |
| P43363 | MAGEA10 | Melanoma-associated antigen 10 | Homo sapiens (Human) | PR |
| Q9Y5V3 | MAGED1 | Melanoma-associated antigen D1 | Homo sapiens (Human) | PR |
| Q96JG8 | MAGED4B | Melanoma-associated antigen D4 | Homo sapiens (Human) | PR |
| Q9BZ81 | MAGEB5 | Melanoma-associated antigen B5 | Homo sapiens (Human) | PR |
| Q9HAY2 | MAGEF1 | Melanoma-associated antigen F1 | Homo sapiens (Human) | PR |
| Q9QYH6 | Maged1 | Melanoma-associated antigen D1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSDTSESGAG | LTRFQAEASE | KDSSSMMQTL | LTVTQNVEVP | ETPKASKALE | VSEDVKVSKA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SGVSKATEVS | KTPEAREAPA | TQASSTTQLT | DTQVLAAENK | SLAADTKKQN | ADPQAVTMPA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TETKKVSHVA | DTKVNTKAQE | TEAAPSQAPA | DEPEPESAAA | QSQENQDTRP | KVKAKKARKV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KHLDGEEDGS | SDQSQASGTT | GGRRVSKALM | ASMARRASRG | PIAFWARRAS | RTRLAAWARR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ALLSLRSPKA | RRGKARRRAA | KLQSSQEPEA | PPPRDVALLQ | GRANDLVKYL | LAKDQTKIPI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KRSDMLKDII | KEYTDVYPEI | IERAGYSLEK | VFGIQLKEID | KNDHLYILLS | TLEPTDAGIL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GTTKDSPKLG | LLMVLLSIIF | MNGNRSSEAV | IWEVLRKLGL | RPGIHHSLFG | DVKKLITDEF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VKQKYLDYAR | VPNSNPPEYE | FFWGLRSYYE | TSKMKVLKFA | CKVQKKDPKE | WAAQYREAME |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ADLKAAAEAA | AEAKARAEIR | ARMGIGLGSE | NAAGPCNWDE | ADIGPWAKAR | IQAGAEAKAK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AQESGSASTG | ASTSTNNSAS | ASASTSGGFS | AGASLTATLT | FGLFAGLGGA | GASTSGSSGA |
| CGFSYK |