Q8IUC8
PR
Gene name |
GALNT13 (KIAA1918) |
Protein name |
Polypeptide N-acetylgalactosaminyltransferase 13 |
Names |
Polypeptide GalNAc transferase 13, GalNAc-T13, pp-GaNTase 13, Protein-UDP acetylgalactosaminyltransferase 13, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 13 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:114805 |
EC number |
2.4.1.41: Hexosyltransferases |
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 Q8IUC8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IUC8-F1 | Predicted | AlphaFoldDB |
403 variants for Q8IUC8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1203376937 CA348670718 |
2 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs766217238 CA1915481 |
4 | F>L | No |
ClinGen ExAC |
|
|
CA1915482 rs751258487 |
5 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767259675 CA1915484 |
6 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754739183 CA1915483 |
6 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs752295859 CA1915485 |
7 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA1915486 rs755543535 |
7 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778367534 CA1915487 |
8 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1915489 rs538808548 |
10 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538808548 CA348670767 |
10 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1915491 rs779319343 |
11 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA348670792 rs1402177699 |
14 | S>L | No |
ClinGen gnomAD |
|
|
rs1297217619 CA348670804 |
16 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs772328017 TCGA novel CA1915492 |
16 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA1915493 rs775542419 |
18 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA348670817 rs775542419 |
18 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA348670831 rs1387961255 |
20 | V>A | No |
ClinGen gnomAD |
|
|
CA1915495 rs376838127 |
22 | V>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1558867260 CA348670850 |
23 | F>S | No |
ClinGen Ensembl |
|
|
rs1281839487 CA348670859 |
24 | L>F | No |
ClinGen gnomAD |
|
|
CA348670888 rs1465014295 |
29 | S>G | No |
ClinGen gnomAD |
|
|
rs762728936 CA1915497 |
29 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1250921053 CA348670893 |
29 | S>R | No |
ClinGen gnomAD |
|
|
CA58890073 rs944702288 |
31 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 34 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1915498 rs766409416 |
34 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA1915499 rs145025659 |
34 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs535801705 CA1915501 |
35 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759378533 CA1915500 |
35 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA348670948 rs186038567 |
37 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752243974 CA1915503 |
37 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1915504 rs186038567 |
37 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348670954 rs1169339005 |
38 | K>M | No |
ClinGen gnomAD |
|
|
rs763447790 CA1915506 |
40 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 42 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1574171924 CA348671004 |
46 | L>S | No |
ClinGen Ensembl |
|
|
rs750826926 CA1915509 |
47 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA348671908 rs1254612469 |
48 | A>G | No |
ClinGen TOPMed |
|
|
CA1915510 rs572595038 |
48 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348671922 rs1258795166 |
50 | I>M | No |
ClinGen gnomAD |
|
|
CA348671942 rs1343407747 |
53 | N>K | No |
ClinGen TOPMed |
|
|
rs756231917 CA348671951 |
54 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 55 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348671957 rs1226964333 |
55 | E>V | No |
ClinGen TOPMed |
|
|
VAR_049242 CA1915535 rs34086479 |
59 | E>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1314478293 CA348671986 |
60 | M>V | No |
ClinGen TOPMed |
|
|
rs745734081 CA1915537 |
62 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs772043040 CA1915538 |
65 | L>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 66 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401845070 CA348672032 |
67 | P>T | No |
ClinGen gnomAD |
|
|
rs1222007013 CA348672039 |
68 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 68 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348672048 rs1310780916 |
69 | D>Y | No |
ClinGen TOPMed |
|
|
CA348672060 rs1386942503 |
70 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 70 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348672073 rs1382225618 |
72 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1337650449 CA348672071 |
72 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768232208 CA1915543 |
76 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1915545 rs761334391 |
77 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1915547 rs764664726 |
81 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1202564472 CA348672140 |
81 | N>S | No |
ClinGen gnomAD |
|
|
CA1915548 rs773710076 |
83 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA1915549 rs763515678 |
86 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs894303304 CA58911971 |
86 | M>T | No |
ClinGen TOPMed |
|
|
rs766894288 CA1915550 |
87 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1232989471 CA348672204 |
90 | L>S | No |
ClinGen gnomAD |
|
|
CA348672220 rs1188584415 |
92 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 93 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1423455759 CA348672225 |
93 | L>P | No |
ClinGen TOPMed |
|
|
rs767659459 CA1915553 |
94 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481627474 CA348672238 |
95 | R>I | No |
ClinGen gnomAD |
|
|
rs1355183313 CA348672243 |
96 | S>R | No |
ClinGen Ensembl |
|
|
rs1413034772 CA348672254 |
98 | P>T | No |
ClinGen gnomAD |
|
|
rs1355220683 CA348672268 |
100 | V>I | No |
ClinGen gnomAD |
|
|
CA348672284 rs1224030577 |
102 | L>S | No |
ClinGen gnomAD |
|
|
rs1265376699 CA348672328 |
106 | K>R | No |
ClinGen gnomAD |
|
|
rs1573940149 CA348672361 COSM716291 |
111 | P>A | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1285440018 CA348672373 |
112 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 112 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1915579 rs746906699 |
114 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1186930425 CA348672389 |
115 | P>S | No |
ClinGen gnomAD |
|
|
rs113939359 CA58923503 |
118 | S>G | No |
ClinGen Ensembl |
|
|
CA58923504 rs367845717 |
118 | S>N | No |
ClinGen ESP TOPMed |
|
|
rs754730499 CA1915580 |
119 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA348672413 rs1445317023 |
119 | V>I | No |
ClinGen gnomAD |
|
|
rs781028680 CA1915581 |
122 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA348672446 rs1366785930 |
124 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348672459 rs1455330194 |
125 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1160157282 CA348672479 |
128 | W>L | No |
ClinGen TOPMed |
|
|
CA348672486 rs1419290348 |
129 | S>N | No |
ClinGen TOPMed |
|
|
rs769482411 CA1915583 |
131 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562877786 CA1915584 |
134 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348672531 rs1174942250 |
135 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 136 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348672539 rs1338311488 |
136 | Y>N | No |
ClinGen gnomAD |
|
|
COSM716289 CA348672576 rs1406272616 |
138 | V>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA348672584 rs1221483684 |
139 | I>R | No |
ClinGen TOPMed |
|
|
CA1915585 rs748773990 |
139 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1310015785 CA348672592 |
140 | N>S | No |
ClinGen gnomAD |
|
|
rs770420086 CA1915586 COSM1528127 |
141 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs376522005 CA58923505 |
143 | P>S | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 144 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA58923506 rs1000061543 |
144 | H>R | No |
ClinGen TOPMed |
|
|
CA1915587 rs774729958 |
145 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1280593974 CA348672661 |
147 | L>F | No |
ClinGen gnomAD |
|
|
CA1915588 rs760159730 |
148 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA348672702 rs911581491 |
150 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA58923509 rs911581491 |
150 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1265378447 CA348672772 |
156 | A>D | No |
ClinGen gnomAD |
|
|
CA348672782 rs1461978668 |
157 | S>N | No |
ClinGen gnomAD |
|
|
rs955959777 CA58923510 |
159 | R>K | No |
ClinGen TOPMed |
|
|
CA348672807 rs1309773768 |
159 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 162 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173528879 CA348672914 |
164 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348672926 rs1284453593 |
165 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 165 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348672988 rs776718504 |
170 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3299278 rs776718504 COSM1157954 CA1915621 |
170 | V>M | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 171 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1915623 rs765363190 |
173 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1915624 rs750564424 |
175 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762987864 CA1915625 |
176 | P>L | No |
ClinGen ExAC |
|
| TCGA novel | 178 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA58923564 rs138158527 |
179 | I>F | No |
ClinGen ESP |
|
| TCGA novel | 180 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1915626 rs149581963 COSM3694918 COSM3694917 |
180 | I>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 182 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752574420 CA348673097 |
182 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1915627 rs752574420 |
182 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA348673117 rs1274061533 |
184 | E>G | No |
ClinGen gnomAD |
|
|
rs777690153 CA1915629 |
185 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3406949 COSM3406948 CA1915630 rs753565309 |
185 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1399163969 CA348673129 |
186 | S>C | No |
ClinGen TOPMed |
|
|
CA348673126 rs1269434681 |
186 | S>P | No |
ClinGen gnomAD |
|
|
CA1915631 rs759879455 COSM1007930 |
190 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs778401789 CA1915632 COSM320544 |
190 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA348673163 COSM1691159 rs1469772079 |
192 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs745417238 CA1915633 |
192 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780716644 CA1915635 |
193 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA58923565 rs1018857509 COSM3837080 COSM3837081 |
194 | R>* | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA348673172 rs374003992 |
194 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1915636 rs374003992 COSM570304 |
194 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA58923566 rs866971257 |
195 | G>* | No |
ClinGen Ensembl |
|
|
CA58923567 rs868691645 |
196 | A>T | No |
ClinGen Ensembl |
|
|
rs1014652407 CA58923568 |
197 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1915640 rs748438664 |
200 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA348673219 rs1383019749 |
202 | Q>R | No |
ClinGen gnomAD |
|
|
rs770093086 CA1915641 COSM1007931 |
205 | T>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA348673261 rs773263895 |
208 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1915643 rs763036761 |
209 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1915644 rs766380189 |
210 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1321108861 CA348673283 |
212 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 216 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753710220 CA1915648 |
217 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA1915649 rs142979145 |
219 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348673341 rs1245758779 |
220 | P>H | No |
ClinGen gnomAD |
|
|
rs1445932213 CA348673346 |
221 | L>W | No |
ClinGen gnomAD |
|
| TCGA novel | 224 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200713585 CA1915652 |
225 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA58923570 rs922187362 |
226 | K>E | No |
ClinGen TOPMed |
|
|
CA1915654 rs746503735 |
227 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1691160 rs779773642 CA1915653 |
227 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| rs267598929 | 229 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1915656 rs200536609 |
229 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs267598930 CA58923857 |
230 | K>I | No |
ClinGen Ensembl |
|
|
COSM3406950 CA1915672 rs759538738 COSM3406951 |
231 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA58923858 rs1051537298 |
237 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1915675 rs756641810 |
238 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs749630576 CA1915677 |
242 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA1915679 rs779069757 |
244 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348673533 rs1250104241 |
247 | Y>C | No |
ClinGen gnomAD |
|
|
CA1915681 rs771985092 |
248 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA1915680 rs745972504 |
248 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1915682 rs776632923 |
250 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs761719645 CA1915683 |
251 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1409180927 CA348673573 |
253 | M>I | No |
ClinGen gnomAD |
|
|
rs1371225237 CA348673569 |
253 | M>L | No |
ClinGen gnomAD |
|
|
rs1371225237 CA348673568 |
253 | M>V | No |
ClinGen gnomAD |
|
|
rs1306067914 CA348673581 |
254 | T>S | No |
ClinGen gnomAD |
|
|
CA1915684 rs769753479 |
255 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773189247 CA1915685 |
255 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1352081455 CA348673596 |
257 | G>D | No |
ClinGen TOPMed |
|
|
rs766159260 CA1915687 |
257 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 257 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348673616 rs1215938310 |
260 | W>R | No |
ClinGen gnomAD |
|
|
rs1274786466 CA348673628 |
261 | K>R | No |
ClinGen gnomAD |
|
|
rs1405422205 CA348673655 |
265 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM3708966 COSM1400218 CA1915688 rs751205543 |
265 | R>H | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 266 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348673669 rs1573946736 |
267 | Y>D | No |
ClinGen Ensembl |
|
|
rs759092572 CA348673675 |
268 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759092572 CA1915689 |
268 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 269 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200105901 CA348673682 |
269 | V>I | No |
ClinGen gnomAD |
|
|
rs1477192860 CA348673688 |
270 | P>H | No |
ClinGen gnomAD |
|
|
rs752238590 CA1915691 |
270 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1390902509 CA348673696 |
271 | Q>P | No |
ClinGen gnomAD |
|
|
CA348673694 rs1390902509 |
271 | Q>R | No |
ClinGen gnomAD |
|
|
rs1165024142 CA348673740 |
277 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 278 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405865291 CA348673771 |
280 | D>N | No |
ClinGen gnomAD |
|
|
rs1322705252 CA348673781 |
281 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA348673786 rs754236942 |
281 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754236942 CA1915694 |
281 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757571713 CA1915695 |
282 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1915697 rs746008260 |
285 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763530256 CA1915729 |
287 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA58925292 COSM716280 rs943316798 |
288 | P>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1159865200 CA348674243 |
288 | P>S | No |
ClinGen TOPMed |
|
|
CA348674247 rs1407097825 |
289 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 292 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 295 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289412823 CA348674297 |
296 | S>F | No |
ClinGen gnomAD |
|
|
rs779046497 CA58925294 |
297 | I>S | No |
ClinGen TOPMed |
|
|
rs779046497 CA348674301 |
297 | I>T | No |
ClinGen TOPMed |
|
|
rs149673345 CA58925293 |
297 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA348674325 rs1269327631 |
300 | N>K | No |
ClinGen TOPMed |
|
|
CA348674330 rs1328861941 |
301 | Y>C | No |
ClinGen gnomAD |
|
|
rs1222099148 CA348674359 |
305 | I>L | No |
ClinGen TOPMed |
|
|
CA348674364 rs1226819010 |
305 | I>M | No |
ClinGen gnomAD |
|
|
CA58925295 rs974360346 |
308 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1915734 rs368610845 |
308 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA348674388 rs1484024410 |
309 | D>G | No |
ClinGen gnomAD |
|
|
rs1254153801 CA348674384 |
309 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140738540 COSM110540 CA58925296 |
313 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA58925297 rs868165664 |
317 | G>R | No |
ClinGen Ensembl |
|
|
rs1250844930 CA348674452 |
318 | E>G | No |
ClinGen gnomAD |
|
|
CA1915737 rs550758481 |
320 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 322 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748218535 CA1915740 |
323 | S>A | No |
ClinGen ExAC |
|
|
rs757300580 CA1915741 |
324 | F>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348673763 rs1367460043 |
326 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 327 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 327 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348673831 rs1229154422 |
329 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1333716436 CA348673849 |
330 | G>E | No |
ClinGen TOPMed |
|
|
rs756217619 CA1915759 |
333 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs1156442251 CA348673865 |
333 | L>V | No |
ClinGen Ensembl |
|
|
rs778732994 CA1915760 |
334 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA1915761 rs750310169 |
336 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 336 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 338 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1915762 rs758267706 |
340 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348673927 rs1559078319 |
342 | G>V | No |
ClinGen Ensembl |
|
|
rs1207714576 CA348673930 |
343 | H>Y | No |
ClinGen gnomAD |
|
|
CA1915764 rs746782484 |
344 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1915765 rs768333190 |
345 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA58930236 rs777905185 |
346 | R>Q | No |
ClinGen gnomAD |
|
|
rs865891391 COSM1400221 COSM3425340 CA58930235 |
346 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA1915766 rs780779481 |
348 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA58930237 rs780779481 |
348 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348673984 rs1324145543 |
352 | T>A | No |
ClinGen gnomAD |
|
|
CA1915769 rs770689177 |
357 | T>S | No |
ClinGen ExAC gnomAD |
|
|
COSM1253040 rs1436054660 CA348674023 |
358 | G>A | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 359 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363067667 CA348674055 |
363 | K>Q | No |
ClinGen gnomAD |
|
|
CA348674079 rs1313267280 |
366 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs763582423 CA1915770 |
369 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs978752133 CA58930239 |
373 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs771322624 CA1915771 |
375 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA348674170 rs1234951810 |
378 | D>E | No |
ClinGen TOPMed |
|
|
rs114820557 CA1915772 |
378 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3425343 CA348674167 rs1229130994 COSM3425344 |
378 | D>Y | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1915774 rs767875652 |
380 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA348674190 rs1302546381 |
381 | Y>C | No |
ClinGen TOPMed |
|
|
CA1915775 rs752913974 |
381 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1052180031 CA58930240 |
384 | S>C | No |
ClinGen TOPMed |
|
|
rs1329647036 CA348674219 |
386 | G>S | No |
ClinGen TOPMed |
|
|
CA348675643 rs1186372495 |
387 | V>A | No |
ClinGen gnomAD |
|
|
rs1574229942 CA348675670 |
391 | D>E | No |
ClinGen Ensembl |
|
|
rs1012036984 CA58941361 |
391 | D>G | No |
ClinGen Ensembl |
|
|
CA1915792 rs772501567 |
391 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1023796535 CA58941363 |
393 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs200938962 CA58941365 |
394 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA58941364 rs894701116 |
394 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 396 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1915794 rs114048422 |
397 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1915795 rs764196167 |
400 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348671683 rs1574229996 |
402 | R>T | No |
ClinGen Ensembl |
|
|
rs187096566 CA1915796 |
403 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA348671700 rs1309724159 |
404 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 405 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1015074339 CA58941366 |
405 | L>Q | No |
ClinGen gnomAD |
|
|
CA348671734 rs1277554031 |
409 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1369361540 CA348671740 |
410 | F>S | No |
ClinGen gnomAD |
|
|
rs1163523604 CA348671744 |
411 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 415 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1915799 rs751438957 |
417 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1915800 rs375197545 |
418 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1209367878 CA348671796 |
418 | Y>H | No |
ClinGen gnomAD |
|
|
rs767365905 CA1915801 |
419 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1231508747 CA348671818 |
421 | S>C | No |
ClinGen gnomAD |
|
|
CA348671836 rs1479152194 |
424 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 424 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150203694 CA1915803 COSM1400223 |
426 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1915804 rs113979307 |
426 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 426 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348671862 rs1452597025 |
428 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA348671870 rs1170420958 |
429 | S>P | No |
ClinGen gnomAD |
|
|
CA348671881 rs1371164946 |
431 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 434 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA58942805 rs758666006 |
434 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1915827 rs753368428 |
435 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 436 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348672688 rs1358915208 |
442 | L>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 445 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348672727 rs1229319216 |
445 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA58942806 rs866168720 |
447 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM3425345 rs778627810 COSM3425346 CA348672770 |
447 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs778627810 CA1915829 |
447 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1915830 rs745352550 |
448 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA58942807 COSM1691162 rs868521163 |
451 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA1915831 rs759010025 |
454 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 454 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464449602 CA348672872 |
456 | F>L | No |
ClinGen gnomAD |
|
|
rs780663318 CA1915832 |
456 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs149633110 CA58942808 |
457 | N>I | No |
ClinGen ESP gnomAD |
|
|
CA348672898 rs149633110 |
457 | N>S | No |
ClinGen ESP gnomAD |
|
|
rs747420256 CA1915833 |
457 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA348672918 rs1162483312 |
458 | C>S | No |
ClinGen gnomAD |
|
|
rs1415354153 CA348672938 |
459 | H>R | No |
ClinGen gnomAD |
|
|
CA348672975 rs1159864151 |
461 | M>I | No |
ClinGen TOPMed |
|
|
CA1915875 rs765871349 |
466 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765871349 CA58946089 |
466 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209234849 CA348674532 |
467 | F>I | No |
ClinGen gnomAD |
|
|
rs1053133467 CA58946091 |
469 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs575828824 CA58946092 |
470 | T>A | No |
ClinGen Ensembl |
|
|
CA1915877 rs115389363 |
471 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1470649880 CA348674558 |
471 | A>T | No |
ClinGen gnomAD |
|
|
rs781701306 CA1915878 |
476 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA348674596 rs148805770 |
476 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1915879 rs148805770 COSM1007946 |
476 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1432749474 COSM3299418 CA348674604 COSM1007947 |
478 | D>N | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 481 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1044350438 CA58946094 |
482 | L>F | No |
ClinGen TOPMed |
|
|
CA1915883 rs771174268 |
485 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1915884 rs546095562 |
488 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201061210 CA1915885 |
489 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768510456 CA1915886 |
491 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1302028533 CA348674702 |
491 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA348674703 rs1302028533 |
491 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1915887 rs531498240 |
492 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1915889 rs769643514 |
493 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1204110249 COSM206887 CA348674756 |
497 | H>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA1915890 rs773135745 |
498 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA58946095 rs142054873 |
499 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs762749940 CA1915891 |
500 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 501 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209808999 CA348674808 |
503 | Q>L | No |
ClinGen gnomAD |
|
|
rs1394535221 CA348674822 |
505 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 507 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1002010826 CA58946096 |
507 | Y>H | No |
ClinGen Ensembl |
|
|
CA1915893 rs773772696 |
508 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759037624 CA1915894 |
508 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1421565749 CA348674860 |
510 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 510 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1915922 rs765387478 |
513 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs750588889 CA1915923 |
513 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA1915925 rs780336642 COSM1400226 |
515 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
COSM70862 CA1915927 rs747061747 |
515 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1559162296 CA348675342 |
516 | H>Q | No |
ClinGen Ensembl |
|
|
CA348675344 rs1364033631 |
517 | V>I | No |
ClinGen gnomAD |
|
|
CA348675359 rs1382686701 |
519 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 520 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348675375 rs1324405475 |
521 | Q>E | No |
ClinGen gnomAD |
|
|
rs1439325107 CA348675388 |
522 | C>* | No |
ClinGen Ensembl |
|
|
CA348675387 rs1234765348 |
522 | C>Y | No |
ClinGen gnomAD |
|
|
CA1915931 rs770693817 |
524 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1915930 rs749050139 |
524 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA348675414 rs1487151159 |
526 | P>R | No |
ClinGen gnomAD |
|
|
rs1261950373 CA348675412 |
526 | P>S | No |
ClinGen gnomAD |
|
|
CA348675424 rs1435216026 |
528 | E>K | No |
ClinGen gnomAD |
|
|
rs771692552 CA1915934 |
530 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745594459 CA1915933 |
530 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1355974542 CA348675459 |
532 | M>I | No |
ClinGen TOPMed |
|
|
CA1915935 rs775023754 |
532 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs760142500 CA1915936 |
534 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 536 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348675478 rs1418930486 |
536 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 538 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA348675511 rs1308105035 |
540 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 540 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1915937 rs769177775 |
541 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777061705 CA348675526 |
542 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs777061705 CA1915938 |
542 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1272689032 CA348675528 |
542 | S>R | No |
ClinGen gnomAD |
|
|
CA1915939 rs139146975 |
543 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA348675551 rs1235423252 |
546 | Q>E | No |
ClinGen gnomAD |
|
|
CA1915941 rs750738168 |
551 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1915942 rs763282772 |
552 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA58947304 rs972552820 |
553 | T>I | No |
ClinGen Ensembl |
|
|
rs1574337666 CA348675600 |
553 | T>P | No |
ClinGen Ensembl |
|
|
rs1274413282 CA348675610 |
554 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA348675608 rs1574337683 |
554 | L>W | No |
ClinGen Ensembl |
|
| TCGA novel | 557 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 557 | T>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 557 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q8IUC8
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.41 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| metal ion binding | Binding to a metal ion. |
| polypeptide N-acetylgalactosaminyltransferase activity | Catalysis of the reaction: UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. This reaction is the modification of serine or threonine residues in polypeptide chains by the transfer of a N-acetylgalactose from UDP-N-acetylgalactose to the hydroxyl group of the amino acid; it is the first step in O-glycan biosynthesis. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| O-glycan processing | The stepwise addition of carbohydrate or carbohydrate derivative residues to the initially added O-linked residue (usually GalNAc) to form a core O-glycan structure. |
| protein O-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. |
| protein O-linked glycosylation via serine | The glycosylation of protein via the O3 atom of peptidyl-serine, forming O3-glycosyl-L-serine; the most common forms are N-acetylgalactosaminyl, mannosyl, galactosyl, and xylosyl serine. |
| protein O-linked glycosylation via threonine | The glycosylation of protein via the O3 atom of peptidyl-threonine, forming O3-glycosyl-L-threonine; the most common forms are N-acetylgalactosaminyl, mannosyl, and galactosyl threonine. |
26 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q07537 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Bos taurus (Bovine) | PR |
| Q6WV16 | Pgant6 | N-acetylgalactosaminyltransferase 6 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y117 | Pgant3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Drosophila melanogaster (Fruit fly) | PR |
| Q6WV17 | Pgant5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Drosophila melanogaster (Fruit fly) | PR |
| Q86SF2 | GALNT7 | N-acetylgalactosaminyltransferase 7 | Homo sapiens (Human) | PR |
| Q86SR1 | GALNT10 | Polypeptide N-acetylgalactosaminyltransferase 10 | Homo sapiens (Human) | PR |
| Q49A17 | GALNTL6 | Polypeptide N-acetylgalactosaminyltransferase-like 6 | Homo sapiens (Human) | PR |
| Q96FL9 | GALNT14 | Polypeptide N-acetylgalactosaminyltransferase 14 | Homo sapiens (Human) | PR |
| Q10471 | GALNT2 | Polypeptide N-acetylgalactosaminyltransferase 2 | Homo sapiens (Human) | PR |
| Q8IXK2 | GALNT12 | Polypeptide N-acetylgalactosaminyltransferase 12 | Homo sapiens (Human) | PR |
| Q14435 | GALNT3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Homo sapiens (Human) | PR |
| Q9NY28 | GALNT8 | Probable polypeptide N-acetylgalactosaminyltransferase 8 | Homo sapiens (Human) | PR |
| Q7Z7M9 | GALNT5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Homo sapiens (Human) | PR |
| Q10472 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Homo sapiens (Human) | PR |
| O08912 | Galnt1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Mus musculus (Mouse) | PR |
| P70419 | Galnt3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Mus musculus (Mouse) | PR |
| Q921L8 | Galnt11 | Polypeptide N-acetylgalactosaminyltransferase 11 | Mus musculus (Mouse) | PR |
| Q8BGT9 | Galnt12 | Polypeptide N-acetylgalactosaminyltransferase 12 | Mus musculus (Mouse) | PR |
| Q8CF93 | Galnt13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Mus musculus (Mouse) | PR |
| Q29121 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Sus scrofa (Pig) | PR |
| Q925R7 | Galnt10 | Polypeptide N-acetylgalactosaminyltransferase 10 | Rattus norvegicus (Rat) | PR |
| O88422 | Galnt5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Rattus norvegicus (Rat) | PR |
| Q10473 | Galnt1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Rattus norvegicus (Rat) | PR |
| Q6UE39 | Galnt13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Rattus norvegicus (Rat) | PR |
| Q7K755 | gly-11 | Putative polypeptide N-acetylgalactosaminyltransferase 11 | Caenorhabditis elegans | PR |
| P34678 | gly-3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRRFVYCKVV | LATSLMWVLV | DVFLLLYFSE | CNKCDDKKER | SLLPALRAVI | SRNQEGPGEM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKAVLIPKDD | QEKMKELFKI | NQFNLMASDL | IALNRSLPDV | RLEGCKTKVY | PDELPNTSVV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IVFHNEAWST | LLRTVYSVIN | RSPHYLLSEV | ILVDDASERD | FLKLTLENYV | KNLEVPVKII |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RMEERSGLIR | ARLRGAAASK | GQVITFLDAH | CECTLGWLEP | LLARIKEDRK | TVVCPIIDVI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SDDTFEYMAG | SDMTYGGFNW | KLNFRWYPVP | QREMDRRKGD | RTLPVRTPTM | AGGLFSIDRN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YFEEIGTYDA | GMDIWGGENL | EMSFRIWQCG | GSLEIVTCSH | VGHVFRKATP | YTFPGGTGHV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| INKNNRRLAE | VWMDEFKDFF | YIISPGVVKV | DYGDVSVRKT | LRENLKCKPF | SWYLENIYPD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SQIPRRYYSL | GEIRNVETNQ | CLDNMGRKEN | EKVGIFNCHG | MGGNQVFSYT | ADKEIRTDDL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CLDVSRLNGP | VIMLKCHHMR | GNQLWEYDAE | RLTLRHVNSN | QCLDEPSEED | KMVPTMQDCS |
| 550 | |||||
| GSRSQQWLLR | NMTLGT |