Q49A17
PR
Gene name |
GALNTL6 (GALNT17) |
Protein name |
Polypeptide N-acetylgalactosaminyltransferase-like 6 |
Names |
Polypeptide GalNAc transferase 17, GalNAc-T17, pp-GaNTase 17, Protein-UDP acetylgalactosaminyltransferase 17, Putative polypeptide N-acetylgalactosaminyltransferase 17, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 17 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:442117 |
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 Q49A17
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q49A17-F1 | Predicted | AlphaFoldDB |
407 variants for Q49A17
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA3139672 rs779797008 |
2 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3139673 rs374627626 |
4 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA110868453 rs534492617 |
4 | K>T | No |
ClinGen Ensembl |
|
|
rs1230729704 CA358802246 |
5 | Q>E | No |
ClinGen TOPMed |
|
|
CA358802260 rs768525056 |
6 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3139675 rs776602820 |
11 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA358802316 rs1560798566 |
14 | L>F | No |
ClinGen Ensembl |
|
|
rs1156582710 CA358802331 |
17 | V>M | No |
ClinGen gnomAD |
|
|
CA358802337 rs1449107139 |
18 | A>T | No |
ClinGen TOPMed |
|
|
CA358802373 rs1291442923 |
23 | P>L | No |
ClinGen gnomAD |
|
|
CA358802370 rs1356867396 |
23 | P>T | No |
ClinGen gnomAD |
|
|
CA110868454 rs939237692 |
25 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs939237692 CA358802384 |
25 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 26 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774277527 CA3139678 |
26 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA3139679 rs759724292 |
27 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1332657323 CA358802428 |
32 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 33 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1414243665 CA358802436 |
33 | D>Y | No |
ClinGen TOPMed |
|
|
CA3139680 rs767600324 |
34 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs753009384 CA3139681 |
35 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1005765669 CA110868455 |
40 | A>V | No |
ClinGen TOPMed |
|
|
rs1243720075 CA358802498 |
42 | P>A | No |
ClinGen gnomAD |
|
|
CA358802496 rs1243720075 |
42 | P>T | No |
ClinGen gnomAD |
|
|
CA358802502 rs1235350898 |
43 | G>R | No |
ClinGen TOPMed |
|
|
rs779540911 CA3139686 |
45 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA358802519 rs779540911 |
45 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs749871455 CA3139687 |
46 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 46 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1039788838 CA110916265 |
48 | F>C | No |
ClinGen TOPMed |
|
|
CA110916266 rs866811131 |
49 | P>Q | No |
ClinGen Ensembl |
|
|
CA358802931 rs1236687699 |
52 | L>P | No |
ClinGen gnomAD |
|
|
CA358802944 rs1560980222 |
54 | D>V | No |
ClinGen Ensembl |
|
|
rs766849976 CA3139725 COSM733116 |
55 | G>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs751115136 CA3139726 |
57 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3139727 rs754579779 |
58 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767259832 CA3139728 |
59 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA358802994 rs1408242497 |
61 | T>K | No |
ClinGen gnomAD |
|
|
rs755755706 CA3139730 |
63 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs752351845 CA3139729 |
63 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA358803018 rs1370840584 |
65 | R>K | No |
ClinGen gnomAD |
|
|
CA3139731 rs777559069 |
68 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA358803053 rs1307347253 |
69 | W>C | No |
ClinGen gnomAD |
|
|
rs1194437506 CA358803059 |
70 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3139732 rs749051811 |
71 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749051811 CA358803066 |
71 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3139733 rs757206767 |
72 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs998194758 CA110916270 |
73 | E>A | No |
ClinGen Ensembl |
|
|
rs781445854 CA110916271 |
74 | S>G | No |
ClinGen Ensembl |
|
|
rs1029629981 CA110916272 |
76 | Q>* | No |
ClinGen TOPMed |
|
|
CA358803105 rs1350022317 |
77 | K>E | No |
ClinGen TOPMed |
|
|
rs1324918599 CA358803120 |
79 | A>T | No |
ClinGen gnomAD |
|
|
rs566772786 CA3139735 |
80 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139033774 CA3139736 |
80 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3139734 rs566772786 |
80 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776721936 CA3139737 COSM3336644 |
81 | R>C | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3139738 rs748333429 |
81 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 82 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749645770 | 83 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292829654 CA358803415 |
85 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs372166625 CA110925609 |
86 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs771376890 CA3139762 |
86 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214574349 CA358803443 |
87 | H>R | No |
ClinGen gnomAD |
|
|
rs760055738 CA3139764 |
90 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs142692385 CA3139765 |
91 | Y>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3139767 rs760170618 |
92 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1385528212 CA358803504 |
93 | L>V | No |
ClinGen gnomAD |
|
|
rs1418660698 CA358803519 |
94 | T>I | No |
ClinGen gnomAD |
|
|
CA358803557 rs1430811589 CA358803558 |
97 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs753382590 CA3139769 |
98 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA3139770 rs761483452 COSM249156 |
98 | H>R | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA358803598 rs758315763 |
100 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3139772 rs566822758 |
100 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA110925610 rs748742023 |
103 | Y>H | No |
ClinGen Ensembl |
|
|
CA3139775 rs752786390 |
106 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA110925611 rs866442409 |
107 | G>S | No |
ClinGen Ensembl |
|
|
rs777934336 CA3139777 |
108 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs1209501199 CA358803711 |
110 | I>V | No |
ClinGen gnomAD |
|
|
CA358803733 rs112353441 |
111 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA358803734 rs368909538 |
112 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3139779 rs368909538 |
112 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA110925613 rs936702239 |
119 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 122 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358803807 rs1175179772 |
123 | P>A | No |
ClinGen gnomAD |
|
|
CA3139781 rs746294876 COSM208130 |
126 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1174724720 CA358803849 |
129 | N>T | No |
ClinGen gnomAD |
|
|
rs1227136654 CA358803170 |
131 | K>M | No |
ClinGen TOPMed |
|
| TCGA novel | 131 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3139811 rs143545755 |
132 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143545755 CA3139810 |
132 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3139812 rs187477338 |
138 | R>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762619608 CA358803251 |
143 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs762619608 CA3139813 |
143 | S>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 145 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358803278 rs1367651288 |
147 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA358803286 rs1365327729 |
148 | F>S | No |
ClinGen TOPMed |
|
|
CA110929689 rs868846927 |
149 | H>Y | No |
ClinGen Ensembl |
|
|
CA358803305 rs1450015829 |
151 | E>K | No |
ClinGen TOPMed |
|
|
rs1325820664 CA358803313 |
152 | G>S | No |
ClinGen gnomAD |
|
|
CA3139818 rs753964316 |
154 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs111414250 CA110929690 |
155 | S>P | No |
ClinGen Ensembl |
|
|
CA110929691 rs149727048 |
158 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA358803350 rs1244964528 |
158 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 159 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358803361 rs1268381844 |
160 | I>T | No |
ClinGen gnomAD |
|
|
CA3139820 rs145624051 |
160 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750632587 CA3139821 |
161 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260382494 CA358803372 |
162 | S>G | No |
ClinGen gnomAD |
|
|
rs541973661 CA3139822 |
163 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780222623 CA3139823 |
165 | N>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1428590 rs747462866 CA3139824 |
166 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755432839 CA358803422 |
166 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA3139825 rs755432839 |
166 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201460369 CA110929692 |
169 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201460369 CA3139827 |
169 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM387507 CA358803461 rs1479883525 |
169 | G>W | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA358803487 rs1440635535 |
171 | L>Q | No |
ClinGen gnomAD |
|
|
CA358803591 rs1158075748 |
178 | V>I | No |
ClinGen gnomAD |
|
|
rs1320282880 CA358803626 |
180 | D>Y | No |
ClinGen gnomAD |
|
|
rs1326917964 CA358803698 |
184 | R>K | No |
ClinGen gnomAD |
|
|
CA358803897 rs1202273674 |
186 | H>Q | No |
ClinGen gnomAD |
|
|
CA3139849 rs777209311 |
190 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1454478016 CA358803927 |
191 | L>M | No |
ClinGen TOPMed |
|
|
rs770486969 CA3139852 |
192 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs748857500 CA3139850 |
192 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3139853 rs745628743 |
193 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1182656063 CA358803959 |
195 | M>T | No |
ClinGen gnomAD |
|
|
rs144181630 CA3139854 |
195 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377525077 CA3139855 |
196 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA3139856 rs760632165 |
197 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA110980716 rs891843933 |
197 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA358803987 rs1254099899 |
200 | K>E | No |
ClinGen TOPMed |
|
|
CA110980717 rs1011629190 |
205 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs763130885 CA3139859 |
205 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3139860 rs766485386 |
207 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146548110 CA110980720 |
214 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA110980719 rs774170031 |
214 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA3139863 rs189797609 COSM1428592 |
216 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs900659227 CA110980721 |
218 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 220 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1226135200 CA358804113 |
220 | A>V | No |
ClinGen TOPMed |
|
|
CA3139867 rs778319684 |
222 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3139868 rs753258036 |
224 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1322618622 CA358804197 |
233 | S>F | No |
ClinGen TOPMed |
|
|
CA358804218 rs1201659620 |
236 | E>G | No |
ClinGen gnomAD |
|
|
rs778309701 CA3139870 |
237 | V>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1431386338 CA358804222 COSM1253066 |
237 | V>F | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA358804226 rs778309701 |
237 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM107786 rs143539644 CA110980727 |
238 | N>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA110980726 rs143539644 |
238 | N>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 240 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358804254 rs1560967569 |
241 | W>* | No |
ClinGen Ensembl |
|
|
rs962290602 CA110980728 |
243 | P>S | No |
ClinGen Ensembl |
|
|
CA358804269 rs1392620376 |
244 | P>Q | No |
ClinGen TOPMed |
|
|
rs746865494 CA3139874 |
246 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3139875 rs201336562 |
247 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3139892 rs746775508 |
250 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3139893 rs746775508 |
250 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007086115 CA110981150 |
251 | L>P | No |
ClinGen TOPMed |
|
|
CA110981149 rs889931057 |
251 | L>V | No |
ClinGen TOPMed |
|
|
CA3139894 rs780876565 |
253 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA358804344 rs1242228892 |
254 | K>R | No |
ClinGen gnomAD |
|
|
CA3139895 rs748047494 |
255 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA110981151 rs180831196 |
257 | V>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA110981152 rs997152002 |
260 | M>I | No |
ClinGen TOPMed |
|
|
CA358804381 rs1347497840 |
260 | M>T | No |
ClinGen gnomAD |
|
|
CA3139897 rs543458976 |
260 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358804402 rs1404437836 |
263 | V>L | No |
ClinGen gnomAD |
|
|
CA358804420 rs532137474 |
265 | D>E | No |
ClinGen 1000Genomes gnomAD |
|
|
CA3139901 rs760911328 |
267 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3139903 rs776872239 |
270 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1262415779 CA358804457 |
270 | G>V | No |
ClinGen gnomAD |
|
|
CA358804493 rs1161165684 |
275 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA358804494 rs1211934516 CA358804495 |
276 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA358804524 COSM1053234 rs1237743834 |
280 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1480084574 CA358804527 |
280 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 281 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765730594 CA3139906 |
282 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765730594 CA3139905 |
282 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA110981154 rs375298105 |
282 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs758028093 CA3139907 |
283 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA3139909 rs151281441 |
284 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335219680 CA358804599 |
285 | W>C | No |
ClinGen gnomAD |
|
|
rs754679886 CA3139910 |
285 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs780985504 CA3139911 |
287 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 287 | M>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs908559454 CA110981155 |
288 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1440204236 CA358804726 |
292 | I>M | No |
ClinGen gnomAD |
|
|
CA110981156 rs747954275 |
293 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs747954275 CA3139912 |
293 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1351243386 CA358804755 |
295 | P>A | No |
ClinGen gnomAD |
|
|
rs1317683755 CA358804802 |
297 | E>D | No |
ClinGen TOPMed |
|
|
rs756078206 CA3139913 |
297 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs368221830 CA3139914 |
298 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1217796764 CA358804830 |
299 | Q>R | No |
ClinGen TOPMed |
|
|
CA358804863 rs1220760916 |
301 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747168529 CA3139918 |
305 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 306 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358804918 rs1483121735 |
307 | F>S | No |
ClinGen gnomAD |
|
|
CA110981158 rs112867941 |
308 | E>G | No |
ClinGen Ensembl |
|
|
rs1383578557 CA358805214 |
310 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA358805217 rs1301863522 |
311 | V>I | No |
ClinGen TOPMed |
|
|
CA3139941 rs770010096 |
313 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA358805259 rs1432658020 |
314 | G>R | No |
ClinGen TOPMed |
|
|
CA3139945 rs771626576 |
316 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3139944 rs771626576 |
316 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299501632 CA358805318 |
318 | A>S | No |
ClinGen gnomAD |
|
|
rs1579605886 CA358805346 |
320 | D>G | No |
ClinGen Ensembl |
|
|
rs1365483820 CA358805339 |
320 | D>N | No |
ClinGen gnomAD |
|
|
rs759011560 CA3139946 |
321 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM586697 CA3139948 rs752243982 |
321 | R>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759011560 CA3139947 |
321 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3139949 rs760406869 |
322 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA358805388 rs763731173 |
323 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs763731173 CA3139950 |
323 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1579605942 CA358805396 |
324 | F>V | No |
ClinGen Ensembl |
|
|
rs753649173 CA3139951 |
327 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA358805458 rs1445727813 |
328 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 330 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1182053250 CA358805505 |
332 | P>T | No |
ClinGen gnomAD |
|
|
rs866179630 CA110988913 |
335 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA110988915 rs993169408 |
337 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs867699271 CA110988916 |
338 | G>R | No |
ClinGen Ensembl |
|
|
rs1579606020 CA358805592 |
339 | G>E | No |
ClinGen Ensembl |
|
|
rs1389693287 CA358805654 |
347 | K>N | No |
ClinGen TOPMed |
|
|
CA3139981 rs764923103 |
348 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195498822 CA358806240 |
351 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 352 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358806251 rs1303421960 |
353 | G>R | No |
ClinGen gnomAD |
|
|
CA358806290 rs1248678014 |
358 | V>I | No |
ClinGen gnomAD |
|
|
CA3139983 rs746294536 |
360 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA358806306 rs746294536 |
360 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA358806322 rs1252476105 |
363 | V>I | No |
ClinGen gnomAD |
|
|
CA358806336 rs1404226350 |
365 | H>Y | No |
ClinGen gnomAD |
|
|
rs1394411525 CA358806370 |
369 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3139985 rs774850813 |
371 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA358806381 rs774850813 |
371 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 372 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3139987 rs768273679 |
374 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 374 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358806421 rs1368295562 |
376 | P>S | No |
ClinGen gnomAD |
|
|
rs1411151466 CA358806432 |
377 | S>P | No |
ClinGen gnomAD |
|
|
CA3139989 rs761483682 |
378 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA358806508 rs1385541068 |
380 | S>N | No |
ClinGen gnomAD |
|
|
rs1488744754 CA358808060 |
384 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3140012 rs780681283 |
386 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA3140013 rs747738443 |
387 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358808075 rs747738443 |
387 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3140014 rs750015890 |
388 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421592289 CA358808092 |
390 | E>G | No |
ClinGen gnomAD |
|
|
rs762849391 CA3140016 |
394 | D>H | No |
ClinGen ExAC |
|
| TCGA novel | 396 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770754753 CA3140017 |
396 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs774299083 CA3140018 |
397 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA358808150 rs1391359157 |
398 | E>G | No |
ClinGen gnomAD |
|
|
COSM1207881 CA358808162 rs1561052193 |
399 | Y>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs201080641 CA3140021 |
400 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA3140022 rs753980713 |
402 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs762114714 CA3140023 |
402 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757975655 CA358808183 |
403 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA358808185 rs1561052222 |
403 | R>P | No |
ClinGen Ensembl |
|
|
rs757975655 COSM1428596 CA3140024 |
403 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1230133951 CA358808187 |
404 | R>G | No |
ClinGen gnomAD |
|
|
rs750729931 CA3140025 |
405 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1322274611 CA358808196 |
405 | P>L | No |
ClinGen gnomAD |
|
|
rs1322274611 CA358808195 |
405 | P>R | No |
ClinGen gnomAD |
|
|
rs75539306 CA110996137 |
406 | E>G | No |
ClinGen Ensembl |
|
|
CA358808206 rs1202310929 |
407 | Y>D | No |
ClinGen TOPMed |
|
|
rs1202310929 CA358808205 |
407 | Y>H | No |
ClinGen TOPMed |
|
|
CA3140029 rs755485297 |
412 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1342803335 CA358808250 |
414 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3140032 rs769402595 |
415 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358808275 rs1183098373 |
417 | A>V | No |
ClinGen gnomAD |
|
|
CA358808283 rs1357120745 |
418 | Q>H | No |
ClinGen TOPMed |
|
|
CA358808305 rs1413811088 |
422 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777532711 CA3140033 |
422 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777532711 CA358808309 |
422 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3140036 rs774025904 |
426 | K>E | No |
ClinGen ExAC |
|
|
CA358808335 rs370310928 |
426 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370310928 CA3140037 |
426 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1466953930 CA358808353 |
428 | K>N | No |
ClinGen TOPMed |
|
|
CA3140039 rs138303336 |
431 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3140040 rs138303336 |
431 | K>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358808399 rs1443089151 |
434 | M>I | No |
ClinGen TOPMed |
|
|
rs1450400924 CA358808406 |
435 | A>G | No |
ClinGen gnomAD |
|
|
rs765252858 CA3140041 |
436 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1579699207 CA358808438 |
440 | D>G | No |
ClinGen Ensembl |
|
|
rs766704424 CA3140044 |
441 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs766704424 CA358808443 |
441 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3140045 rs184699355 |
442 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA358808458 rs1401921011 |
443 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1233125819 CA358808472 |
445 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3140046 rs755470500 |
445 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233125819 CA358808470 |
445 | Y>S | No |
ClinGen TOPMed |
|
|
rs752183772 CA3140048 |
446 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3140047 rs768050701 |
446 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3140050 rs777182943 |
448 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1296628437 CA358808487 |
448 | V>M | No |
ClinGen gnomAD |
|
|
rs1254632861 CA358808491 |
449 | E>Q | No |
ClinGen gnomAD |
|
|
CA3140051 rs748907934 |
450 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377199176 CA3140052 |
451 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 451 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358808529 rs1354140114 |
455 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA358808532 rs745725849 |
455 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA3140054 CA358808533 rs745725849 |
455 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA358808531 rs1354140114 |
455 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772106515 CA110996139 CA3140055 |
456 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358808540 rs1579699401 |
457 | E>G | No |
ClinGen Ensembl |
|
| rs1177099840 | 457 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775517964 CA3140056 |
457 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 457 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448033238 CA358806470 |
458 | I>T | No |
ClinGen gnomAD |
|
|
rs771159853 CA3140079 |
459 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146923140 CA3140080 |
459 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA111002593 rs979953035 |
461 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 465 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358806616 rs1270038971 |
467 | V>A | No |
ClinGen TOPMed |
|
|
CA3140081 rs759788867 |
469 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA358806663 rs1421650457 |
471 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs772360501 CA3140082 |
471 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1421650457 CA358806665 |
471 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1284314258 CA358806713 |
474 | T>I | No |
ClinGen TOPMed |
|
|
rs137921635 CA3140084 |
475 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764576238 CA3140085 |
477 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs761280305 CA3140087 |
482 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA358806820 rs1433625146 |
483 | C>S | No |
ClinGen TOPMed |
|
|
CA3140090 rs201835999 |
484 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3140089 rs201835999 |
484 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 485 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210947040 CA358806867 |
486 | D>V | No |
ClinGen gnomAD |
|
|
CA3140092 rs751374219 |
487 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 491 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358806954 rs1239343286 |
492 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 493 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 493 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748137250 CA358807010 |
496 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs748137250 CA3140095 |
496 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3140124 rs770485840 |
500 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358807186 rs1484071023 |
500 | F>V | No |
ClinGen gnomAD |
|
|
COSM1539891 CA111003919 rs868183409 |
502 | W>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA358807207 rs1223267510 |
503 | R>K | No |
ClinGen TOPMed |
|
|
CA358807212 rs1554011964 |
504 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs768597738 CA111003920 |
505 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 506 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432435490 CA358807234 |
507 | R>* | No |
ClinGen gnomAD |
|
|
rs201464822 CA3140126 |
507 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1266920736 CA358807240 COSM1053241 |
508 | P>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs766008846 CA3140128 |
509 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766008846 CA3140127 |
509 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3140130 rs767160713 |
513 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1431069773 CA358807279 |
514 | T>I | No |
ClinGen gnomAD |
|
|
rs756041431 CA3140132 |
515 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390582620 CA358807282 |
515 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756041431 CA358807281 |
515 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776471859 CA111003922 |
521 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358807325 rs1408415084 |
521 | A>T | No |
ClinGen Ensembl |
|
|
CA3140134 rs776471859 |
521 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3140136 rs780216721 |
527 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3140138 rs143941607 |
528 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA358807415 rs1160322299 |
529 | T>A | No |
ClinGen TOPMed |
|
|
rs781402763 CA3140139 |
529 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3140140 rs748563766 |
530 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3140141 rs556384437 |
537 | K>* | No |
ClinGen 1000Genomes ExAC |
|
|
rs1402857141 CA358807557 |
539 | N>S | No |
ClinGen gnomAD |
|
|
CA358807620 rs1246885061 |
543 | G>E | No |
ClinGen TOPMed |
|
|
rs749841630 CA358807639 |
545 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770282365 CA111003925 |
545 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770282365 CA3140144 |
545 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749841630 CA3140143 |
545 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579815237 CA358808560 |
547 | D>Y | No |
ClinGen Ensembl |
|
|
rs1186603573 CA358808571 |
548 | R>I | No |
ClinGen gnomAD |
|
|
rs781526365 CA3140158 |
549 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031195952 CA111005928 |
550 | L>S | No |
ClinGen TOPMed |
|
|
CA358808585 rs1258473849 |
551 | F>I | No |
ClinGen gnomAD |
|
|
rs1027509402 CA111005929 |
552 | H>R | No |
ClinGen Ensembl |
|
|
CA3140160 rs756505903 |
554 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA358808614 rs1414879734 |
555 | S>N | No |
ClinGen TOPMed |
|
|
CA111005930 rs984642507 |
559 | M>K | No |
ClinGen Ensembl |
|
|
CA358808653 rs1186219605 |
560 | D>Y | No |
ClinGen TOPMed |
|
|
CA3140162 rs749757496 |
562 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1302479964 CA358808672 |
562 | N>K | No |
ClinGen gnomAD |
|
|
rs1431682391 CA358808671 |
562 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs778283256 CA3140164 |
564 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA111005931 rs942893170 |
564 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs369616934 CA111005933 |
566 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3140166 rs374284508 |
566 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3140165 rs745423532 |
566 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141255188 CA3140167 |
567 | K>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768375972 CA3140169 |
569 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM50527 rs150774264 CA3140170 |
570 | M>L | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs377273020 CA3140171 |
570 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3140172 rs765257084 |
571 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 577 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA358808770 COSM3775699 rs1414736847 |
577 | S>F | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3140174 rs759610397 |
578 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA358808795 rs1353000034 |
581 | Q>P | No |
ClinGen TOPMed |
|
|
rs1175680978 CA358808820 |
584 | F>S | No |
ClinGen gnomAD |
|
|
CA358808825 rs1304557898 |
585 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 589 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779002506 CA111005934 |
590 | T>P | No |
ClinGen Ensembl |
|
|
CA358808878 rs1313483809 |
592 | L>S | No |
ClinGen gnomAD |
|
|
CA3140177 rs756420086 |
593 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3140178 rs778270068 |
594 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1579815519 CA358808929 |
599 | A>P | No |
ClinGen Ensembl |
|
|
CA358808933 rs1286378109 |
599 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3140181 rs757674876 |
600 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q49A17
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. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| 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 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 |
| Q6WV17 | Pgant5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y117 | Pgant3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Drosophila melanogaster (Fruit fly) | PR |
| Q6WV16 | Pgant6 | N-acetylgalactosaminyltransferase 6 | Drosophila melanogaster (Fruit fly) | PR |
| Q86SF2 | GALNT7 | N-acetylgalactosaminyltransferase 7 | Homo sapiens (Human) | PR |
| Q86SR1 | GALNT10 | Polypeptide N-acetylgalactosaminyltransferase 10 | Homo sapiens (Human) | PR |
| Q8IUC8 | GALNT13 | Polypeptide N-acetylgalactosaminyltransferase 13 | 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 |
| MKRKQKRFLQ | MTLLFTVALI | FLPNVGLWSL | YKDKHLVKSA | EPGEQQTFPL | GLGDGQFYSW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TDGLRRKDWH | DYESIQKEAM | RSGKGEHGKP | YPLTEEDHDD | SAYRENGFNI | FVSNNIALER |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLPDIRHANC | KHKMYLERLP | NTSIIIPFHN | EGWTSLLRTI | HSIINRTPGS | LIAEIILVDD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FSEREHLKDK | LEEYMARFSK | VRIVRTKKRE | GLIRTRLLGA | SMARGEVLTF | LDSHCEVNVN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WLPPLLNQIA | LNHKTIVCPM | IDVIDHNHFG | YEAQAGDAMR | GAFDWEMYYK | RIPIPPELQR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ADPSDPFESP | VMAGGLFAVD | RKWFWELGGY | DPGLEIWGGE | QYEISFKVWM | CGGEMFDVPC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SRVGHIYRKY | VPYKVPSGTS | LARNLKRVAE | TWMDEFAEYI | YQRRPEYRHL | STGDISAQKE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| LRKQLKCKDF | KWFMAAVAWD | VPKYYPPVEP | PPAAWGEIRN | VAANLCVDSK | HGATGTELRL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DICVKDGSER | TWSHEQLFTF | GWREDIRPGE | PLHTRKFCFD | AISHNSPVTL | YDCHGMKGNQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LWGYRKDRTL | FHPVSNSCMD | CNPAEKKIFM | ARCDPLSETQ | QWIFEHINMT | VLEKFNHHAN |
| S |