Q7LFX5
Gene name |
CHST15 (BRAG, GALNAC4S6ST, KIAA0598) |
Protein name |
Carbohydrate sulfotransferase 15 |
Names |
B-cell RAG-associated gene protein, hBRAG, N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase, GalNAc4S-6ST |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51363 |
EC number |
2.8.2.33: Sulfotransferases |
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 Q7LFX5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7LFX5-F1 | Predicted | AlphaFoldDB |
469 variants for Q7LFX5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs770564232 CA5733254 |
4 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366205901 CA378632089 |
9 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA215210102 rs778153454 |
9 | I>T | No |
ClinGen Ensembl |
|
|
rs1249449178 CA378632040 |
12 | L>* | No |
ClinGen gnomAD |
|
|
rs1469448537 CA378632010 |
13 | P>R | No |
ClinGen gnomAD |
|
|
CA5733253 rs746735036 |
13 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5733250 rs200819458 |
14 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs375999783 CA5733248 |
15 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000947298 CA5733246 rs35043821 |
16 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA378631939 rs1256306513 |
17 | H>P | No |
ClinGen TOPMed |
|
|
rs1302290887 CA378631928 |
17 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs781491426 CA5733244 |
18 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs750501776 CA5733245 |
18 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA378631859 rs1590264318 |
20 | Q>L | No |
ClinGen Ensembl |
|
|
CA378631811 rs1590264304 |
22 | N>S | No |
ClinGen Ensembl |
|
|
rs1435814204 CA378631778 |
23 | C>* | No |
ClinGen gnomAD |
|
|
rs757493998 CA5733242 |
24 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751807976 CA5733241 |
25 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5733240 rs764322427 |
26 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1451412208 CA378631724 |
26 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA378631704 rs902433319 |
27 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs902433319 CA215210035 |
27 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs763394162 CA5733239 |
28 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 28 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA215210018 rs755059839 |
30 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA378631626 rs150299035 |
30 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378631622 rs755059839 |
30 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA378631630 rs150299035 |
30 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5733237 rs150299035 |
30 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA215210013 rs140144074 |
31 | H>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs776107373 CA5733235 |
32 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs34639461 CA378631544 |
33 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378631555 rs1256939044 |
33 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1256939044 CA378631554 |
33 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs34639461 CA5733234 |
33 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378631514 rs1302897290 |
34 | C>* | No |
ClinGen gnomAD |
|
|
CA378631534 rs1347149299 |
34 | C>S | No |
ClinGen TOPMed |
|
|
rs550796211 CA5733232 |
36 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 42 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378631346 rs1253119715 |
42 | K>N | No |
ClinGen TOPMed |
|
|
rs1228184007 CA378631361 |
42 | K>Q | No |
ClinGen TOPMed |
|
|
rs772770065 CA215210000 |
42 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs199943528 CA5733227 |
45 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201537622 CA5733226 COSM1346568 |
46 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA5733225 rs201960331 |
46 | R>H | Variant assessed as Somatic; 0.0005081 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378631289 rs201960331 |
46 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378631285 COSM1346566 rs1374287131 |
47 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5733223 rs778034096 |
49 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378631252 rs1257390586 |
49 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201571991 CA215209965 |
52 | M>K | No |
ClinGen Ensembl |
|
|
CA5733222 rs758588551 |
53 | N>I | No |
ClinGen ExAC |
|
|
rs753052819 CA5733221 |
58 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs140903668 COSM3414787 CA5733219 |
59 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378631168 rs1462086920 |
62 | T>A | No |
ClinGen gnomAD |
|
|
rs754349422 CA5733218 |
64 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5733215 rs199887555 COSM1703212 |
66 | E>K | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1397847548 CA378631135 |
67 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 68 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA215209944 rs990504779 |
68 | W>R | No |
ClinGen Ensembl |
|
|
rs1297530656 CA378631118 |
69 | G>R | No |
ClinGen TOPMed |
|
|
CA5733214 rs145631200 |
73 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM203240 CA5733212 rs750731230 |
73 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5733213 rs750731230 |
73 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA215209940 rs1000489006 |
75 | K>E | No |
ClinGen Ensembl |
|
|
CA5733210 rs199919262 |
75 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1245524418 CA378631068 |
76 | K>N | No |
ClinGen TOPMed |
|
|
CA378631062 rs1292697537 |
77 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 78 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5733209 rs775587426 |
78 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1165652161 CA378631053 |
79 | R>* | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5733208 rs376384195 COSM1201163 |
79 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA378631049 rs1419275895 |
80 | C>R | No |
ClinGen gnomAD |
|
|
CA5733206 rs148589652 |
83 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758631336 CA5733205 |
84 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1004179959 CA215209920 |
87 | I>T | No |
ClinGen TOPMed |
|
|
CA378630977 rs1564883742 |
90 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA378630973 rs1195324491 |
91 | L>S | No |
ClinGen gnomAD |
|
|
rs779184509 CA5733203 |
93 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273780099 CA378630952 |
94 | A>D | No |
ClinGen gnomAD |
|
|
CA5733202 rs755366948 |
95 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs754294487 CA5733201 |
96 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA5733200 rs766890571 |
96 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1337191771 CA378630920 |
99 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA378630910 rs1390360770 |
101 | A>D | No |
ClinGen gnomAD |
|
|
CA378630909 rs1390360770 |
101 | A>G | No |
ClinGen gnomAD |
|
|
rs766997151 CA5733197 |
103 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1460353200 CA378630896 |
103 | Q>R | No |
ClinGen gnomAD |
|
|
rs774176086 CA5733194 |
105 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs762816153 CA5733192 |
106 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs559602000 CA5733191 |
107 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1211830928 CA378630864 |
108 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA215209875 rs372136608 |
110 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5733189 rs372136608 |
110 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5733188 rs773283280 |
112 | H>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 112 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM268377 CA5733186 rs748331919 |
114 | G>R | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA378630823 rs1237865299 |
115 | G>S | No |
ClinGen gnomAD |
|
|
rs1327340110 CA378630816 |
116 | F>Y | No |
ClinGen gnomAD |
|
|
rs755244050 CA5733184 |
117 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA378630804 rs1394426718 |
118 | S>C | No |
ClinGen gnomAD |
|
|
CA378630805 rs1394426718 |
118 | S>G | No |
ClinGen gnomAD |
|
|
CA378630806 rs1394426718 |
118 | S>R | No |
ClinGen gnomAD |
|
|
rs1402847721 CA378630788 |
120 | P>S | No |
ClinGen gnomAD |
|
|
rs555659421 CA215209802 |
123 | M>I | No |
ClinGen 1000Genomes |
|
|
CA215209804 rs1048466995 |
123 | M>V | No |
ClinGen TOPMed |
|
|
CA5733180 rs750910183 |
126 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767010892 CA5733179 |
127 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs796892739 CA215209797 |
127 | N>S | No |
ClinGen Ensembl |
|
|
rs796892739 CA378630736 |
127 | N>T | No |
ClinGen Ensembl |
|
|
CA215209787 rs76041766 |
131 | T>K | No |
ClinGen Ensembl |
|
|
CA5733178 rs756847428 |
133 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA215209784 rs756847428 |
133 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA5733177 rs751160286 |
134 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378630671 rs1304789188 |
136 | H>L | No |
ClinGen gnomAD |
|
|
rs1284085908 CA378630676 |
136 | H>Y | No |
ClinGen TOPMed |
|
|
rs762760114 CA5733175 |
137 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218567186 CA378630606 |
146 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs759452827 CA5733172 |
148 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759074044 CA215209766 |
150 | P>S | No |
ClinGen gnomAD |
|
|
rs79932850 CA5733171 |
153 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761859751 CA5733168 |
157 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA378630518 rs1377521114 |
157 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1391561473 CA378630501 |
158 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1391561473 CA378630503 |
158 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1166105472 CA378630471 |
160 | T>R | No |
ClinGen gnomAD |
|
|
rs201859330 CA5733166 |
161 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776714793 CA5733165 |
164 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368465329 CA5733164 |
166 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs565409809 CA5733162 |
167 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5733160 rs781525292 |
169 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs777481863 CA215209683 |
175 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146087527 CA5733158 |
175 | D>Y | No |
ClinGen ESP ExAC TOPMed |
|
|
CA5733156 rs758066803 |
176 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA215209668 rs991623597 |
177 | K>E | No |
ClinGen Ensembl |
|
|
CA378630221 rs1273110657 |
178 | K>N | No |
ClinGen gnomAD |
|
|
rs1171927503 CA378630215 |
179 | Q>E | No |
ClinGen gnomAD |
|
|
rs1291830853 CA378629960 |
189 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs142884957 CA5733136 |
195 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5733135 rs778409986 |
197 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs754701134 CA5733134 |
198 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA378629882 rs1281871369 |
200 | W>* | No |
ClinGen TOPMed |
|
|
rs1419854730 CA378629877 |
200 | W>* | No |
ClinGen gnomAD |
|
|
CA378629884 rs1461906111 |
200 | W>R | No |
ClinGen gnomAD |
|
|
CA378629872 rs1162563351 |
201 | Y>C | No |
ClinGen gnomAD |
|
|
rs755992309 COSM1703210 CA5733131 |
202 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA5733128 rs144796173 |
203 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5733130 rs750368427 |
203 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs765371014 COSM396660 CA5733126 |
205 | S>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA5733127 rs775676762 |
205 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5733123 rs113034115 |
206 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5733122 rs113034115 |
206 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772684168 CA5733120 |
207 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA5733119 rs747582261 |
207 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA215209177 rs1014795251 |
208 | N>K | No |
ClinGen TOPMed |
|
|
CA5733118 rs778553481 |
208 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590257270 CA378629822 |
209 | T>I | No |
ClinGen Ensembl |
|
| TCGA novel | 211 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378629815 rs748985634 |
211 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM915798 rs748985634 CA5733116 |
211 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748985634 CA5733117 |
211 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750264072 CA5733113 |
212 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs755937325 CA5733114 |
212 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1355498643 CA378629800 |
213 | Y>F | No |
ClinGen TOPMed |
|
|
rs1457250009 CA378629804 |
213 | Y>H | No |
ClinGen gnomAD |
|
|
CA378629795 rs1345556956 |
214 | L>F | No |
ClinGen gnomAD |
|
|
CA378629793 rs1160951738 |
214 | L>P | No |
ClinGen gnomAD |
|
|
CA215209161 rs913645132 |
215 | T>I | No |
ClinGen Ensembl |
|
|
CA215209158 rs986607169 |
217 | S>A | No |
ClinGen TOPMed |
|
|
CA378629774 rs1455177427 |
217 | S>C | No |
ClinGen gnomAD |
|
|
rs1455177427 CA378629775 |
217 | S>Y | No |
ClinGen gnomAD |
|
|
CA5733107 rs199953738 |
219 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378629764 CA378629765 rs765371622 |
219 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765371622 CA5733108 |
219 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5733105 rs766799219 |
220 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs975312065 CA378629751 |
221 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA5733104 rs761098893 |
221 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA378629744 rs1299186980 |
222 | S>F | No |
ClinGen gnomAD |
|
|
rs1368830614 CA378629748 |
222 | S>P | No |
ClinGen gnomAD |
|
|
CA5733103 rs773753799 |
223 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs532810140 CA5733102 |
223 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378629740 rs1362493735 |
223 | K>R | No |
ClinGen gnomAD |
|
|
rs1451301579 CA378629731 |
224 | R>G | No |
ClinGen gnomAD |
|
|
rs748750523 CA5733101 |
224 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748750523 CA378629728 |
224 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768221458 CA5733099 |
225 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA5733098 rs748902428 COSM1346560 |
226 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748902428 CA378629699 |
226 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378629703 rs1590256639 |
226 | R>S | No |
ClinGen Ensembl |
|
|
rs779654815 CA5733097 |
227 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264425873 CA378629684 |
228 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA378629678 rs1162124439 |
228 | T>S | No |
ClinGen TOPMed |
|
|
CA5733091 rs34389704 |
230 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757082910 CA5733093 |
230 | D>G | No |
ClinGen ExAC |
|
|
CA378629643 rs781020400 |
230 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5733094 rs781020400 |
230 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs755106803 CA5733090 |
231 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA378629610 rs755106803 |
231 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 233 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378629569 COSM203238 rs1228198265 |
233 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA5733087 rs143626003 |
234 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs547957889 CA5733086 |
234 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs28544089 CA215209091 |
235 | A>G | No |
ClinGen gnomAD |
|
|
rs1053007460 CA215209095 |
235 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs28544089 CA378629510 |
235 | A>V | No |
ClinGen gnomAD |
|
|
CA378629498 rs1313178158 |
236 | F>V | No |
ClinGen gnomAD |
|
|
rs1399527278 CA378629462 |
237 | W>C | No |
ClinGen gnomAD |
|
|
CA5733085 rs767941511 |
238 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5733084 rs762163102 |
239 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1243304457 CA378629415 |
240 | L>P | No |
ClinGen TOPMed |
|
|
rs373338090 CA5733083 |
240 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762415904 CA378629399 |
241 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5733081 rs762415904 |
241 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931640046 CA215209071 |
242 | H>D | No |
ClinGen TOPMed |
|
| TCGA novel | 242 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA215209066 rs781451777 |
243 | A>T | No |
ClinGen TOPMed |
|
|
rs561766757 CA5733080 |
243 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs186851094 CA5733078 |
244 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5733077 rs780782529 |
245 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA378629330 rs878912191 CA215209059 |
245 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5733075 rs746872838 |
247 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590255946 CA378629286 |
247 | H>P | No |
ClinGen Ensembl |
|
|
rs746872838 CA215209044 |
247 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs531511922 CA5733074 |
248 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA215209027 rs866135394 |
249 | R>L | No |
ClinGen Ensembl |
|
|
rs373115407 CA5733073 |
250 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373115407 CA215209017 |
250 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378629222 rs1234859628 |
251 | R>G | No |
ClinGen gnomAD |
|
|
rs1338359559 CA378629215 |
251 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA378629214 rs1338359559 |
251 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA215209006 rs907644359 |
254 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs780340462 CA5733071 |
254 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378629159 rs1419166387 |
255 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA378629163 rs1328905238 |
255 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA378629136 rs1472004157 |
257 | Y>H | No |
ClinGen gnomAD |
|
|
rs750681384 CA5733068 |
258 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5733067 rs757620385 |
259 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757620385 CA215208990 |
259 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378629091 rs1335602954 |
261 | Q>K | No |
ClinGen TOPMed |
|
|
CA215208986 rs564365421 |
261 | Q>L | No |
ClinGen 1000Genomes |
|
|
rs1248529306 CA378629055 |
263 | K>R | No |
ClinGen gnomAD |
|
|
CA378629043 rs1383291142 |
264 | C>G | No |
ClinGen TOPMed |
|
|
CA378629014 rs1246670334 |
266 | T>S | No |
ClinGen TOPMed |
|
|
rs946205492 CA215208984 |
267 | T>R | No |
ClinGen Ensembl |
|
|
rs79202356 CA215208967 |
268 | D>A | No |
ClinGen Ensembl |
|
|
CA215208981 rs1027982256 |
268 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 270 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5733064 rs545770018 |
273 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1283302395 CA378628917 |
273 | L>Q | No |
ClinGen gnomAD |
|
|
rs774921257 CA5733062 |
274 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 274 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769296290 CA5733061 |
275 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378628893 rs1590255213 |
276 | H>D | No |
ClinGen Ensembl |
|
|
CA378628874 rs1306457046 |
277 | P>S | No |
ClinGen gnomAD |
|
|
CA5733058 rs770538087 |
278 | E>* | No |
ClinGen ExAC gnomAD |
|
|
COSM1248313 CA215208934 CA5733056 rs146440479 |
278 | E>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA378628868 rs770538087 |
278 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs746788285 CA5733057 |
278 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA378628847 rs1590255097 |
279 | V>G | No |
ClinGen Ensembl |
|
|
CA378628838 rs1390451168 |
280 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA378628807 rs1159450831 |
282 | S>F | No |
ClinGen gnomAD |
|
|
CA5733054 rs780219214 |
283 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs780219214 CA5733053 |
283 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA378628795 rs1362406894 |
284 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 286 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5733052 rs527282589 |
288 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs145847740 CA5733050 |
292 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs559698999 CA5733049 |
294 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs375906303 CA5733030 |
298 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs757439959 CA5733031 |
298 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs544235718 CA5733029 |
299 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5733028 rs758783490 |
302 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA378628461 rs1291394659 |
304 | L>Q | No |
ClinGen TOPMed |
|
|
CA5733027 rs753109595 |
305 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5733026 rs765702333 |
307 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA378628443 COSM2021145 rs1415637713 |
307 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA5733024 rs201649749 |
308 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201649749 CA378628439 COSM3790568 |
308 | Y>S | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA5733023 rs765822393 |
309 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378628429 CA5733021 COSM1188077 rs772773156 |
310 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs772773156 CA378628430 |
310 | V>M | Variant assessed as Somatic; 9.241e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA215207776 rs1027619664 |
316 | L>F | No |
ClinGen Ensembl |
|
|
rs368746217 CA5733018 |
321 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368746217 CA5733017 |
321 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376959811 CA5733016 |
321 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5733014 rs200528082 |
322 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5733015 rs776703334 |
322 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA215207732 rs369626951 |
323 | Q>E | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 324 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378628330 rs1194657869 |
325 | H>Y | No |
ClinGen TOPMed |
|
|
CA378628297 rs1186421250 |
329 | Q>* | No |
ClinGen TOPMed |
|
|
rs1025570012 CA215207720 |
329 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs897867340 CA215207713 |
334 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1234237582 CA378628237 |
334 | K>R | No |
ClinGen gnomAD |
|
|
CA5733011 rs772319898 |
338 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1393291788 CA378628156 |
339 | M>T | No |
ClinGen TOPMed |
|
|
rs1311546649 CA378628130 |
340 | N>K | No |
ClinGen gnomAD |
|
|
CA5733010 rs748507698 |
340 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1461638120 CA378628117 |
342 | I>V | No |
ClinGen TOPMed |
|
|
CA378628072 rs1386161063 |
345 | G>R | No |
ClinGen TOPMed |
|
|
rs370575368 CA5732981 |
349 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199646326 CA215253782 |
350 | S>F | No |
ClinGen Ensembl |
|
|
CA5732980 rs762632664 |
350 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA215253792 rs199646326 |
350 | S>Y | No |
ClinGen Ensembl |
|
|
CA5732979 rs139382761 |
351 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5732978 rs765080969 |
352 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs1376244891 CA378637909 COSM79344 |
353 | W>* | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1475262801 CA378637901 |
354 | D>V | No |
ClinGen TOPMed |
|
|
rs759527488 CA5732977 |
356 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs376794217 CA5732976 |
357 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767590394 CA378637866 |
359 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767590394 COSM1346556 CA5732975 |
359 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1457173671 CA378637860 |
360 | F>S | No |
ClinGen gnomAD |
|
|
CA378637853 rs1365858614 |
361 | F>Y | No |
ClinGen TOPMed |
|
|
rs1160083771 CA378637844 |
362 | Y>C | No |
ClinGen gnomAD |
|
|
rs1345465697 CA378637848 |
362 | Y>N | No |
ClinGen gnomAD |
|
|
CA215253709 rs1040064513 |
363 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA215253684 rs375061085 |
365 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs78587239 CA5732971 |
366 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378637806 rs1265696690 |
367 | D>E | No |
ClinGen gnomAD |
|
|
CA378637811 rs1486381652 |
367 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5732969 rs370938065 |
368 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377751476 CA5732967 |
369 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5732966 rs756861563 |
370 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5732964 rs374459985 |
371 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 373 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752430304 CA5732962 |
374 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs765085481 CA5732961 |
374 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1162416558 CA378637764 |
375 | Q>* | No |
ClinGen TOPMed |
|
|
rs1339915609 CA378637733 |
379 | H>Y | No |
ClinGen gnomAD |
|
|
CA378637724 rs1383715827 |
380 | A>G | No |
ClinGen TOPMed |
|
|
rs767543459 CA5732958 COSM3686563 |
380 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA378637725 rs1383715827 |
380 | A>V | No |
ClinGen TOPMed |
|
|
CA378637717 rs1376477538 |
381 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1376477538 CA378637718 |
381 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA378637704 rs1175975127 |
383 | P>S | No |
ClinGen gnomAD |
|
|
CA378637695 rs1429539478 |
384 | N>I | No |
ClinGen gnomAD |
|
|
CA378637683 rs1426247014 |
386 | R>K | No |
ClinGen gnomAD |
|
|
rs1202298123 CA378637664 |
389 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA215253609 rs968844331 |
389 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1020481808 CA215253608 |
390 | M>T | No |
ClinGen Ensembl |
|
|
rs1482298801 CA378637648 |
392 | R>G | No |
ClinGen gnomAD |
|
|
rs1363531412 CA378635530 |
398 | L>S | No |
ClinGen TOPMed |
|
|
rs1230939319 CA378635473 |
402 | Y>C | No |
ClinGen TOPMed |
|
|
rs753671778 CA5732941 |
402 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA215237623 rs953013162 |
403 | L>P | No |
ClinGen Ensembl |
|
|
CA378635429 rs1338264919 |
404 | Y>* | No |
ClinGen gnomAD |
|
|
CA5732939 rs756098645 |
407 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs375217023 CA378635371 |
408 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375217023 COSM1201155 CA5732938 |
408 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372003076 CA5732935 |
412 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5732934 rs201369174 |
412 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1417205522 CA378635253 |
414 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs894832281 CA215237566 |
416 | H>R | No |
ClinGen TOPMed |
|
|
rs771561093 CA5732931 |
418 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs761249169 CA5732930 |
419 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs772538245 CA5732929 |
421 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772538245 CA378635109 |
421 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA215237545 rs533841906 |
422 | A>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 423 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378635078 rs1176689505 |
423 | L>P | No |
ClinGen gnomAD |
|
|
rs771634024 CA5732928 |
424 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771634024 CA378635065 |
424 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778594589 CA5732927 |
430 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778594589 CA5732926 |
430 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378634959 rs1347475019 |
432 | D>Y | No |
ClinGen TOPMed |
|
|
CA378634915 rs1211367226 |
436 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA5732925 rs768345051 |
436 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779887614 CA378634909 |
437 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5732923 rs779887614 |
437 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755974129 CA5732922 |
437 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758477205 CA5732919 |
439 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs777679104 CA378634890 |
439 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM290154 CA5732920 rs777679104 |
439 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA378634877 rs1256963586 |
440 | Y>F | No |
ClinGen TOPMed |
|
|
CA378634852 rs1325972148 |
442 | N>T | No |
ClinGen gnomAD |
|
|
CA5732917 rs765544646 |
443 | T>P | No |
ClinGen ExAC |
|
|
rs759906459 CA5732916 |
444 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1378565331 CA378634808 |
446 | N>S | No |
ClinGen gnomAD |
|
|
rs1564854419 CA378634800 |
447 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA378634779 rs1469589861 |
448 | M>I | No |
ClinGen gnomAD |
|
|
CA5732807 rs746058250 |
453 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201467916 CA5732806 |
454 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA215229068 rs866055825 |
456 | L>F | No |
ClinGen Ensembl |
|
|
CA5732805 rs555247313 |
458 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5732804 rs747372836 |
460 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1026818568 CA215229065 |
462 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5732801 COSM1346548 rs200319997 |
467 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1417387316 CA378632815 |
469 | D>E | No |
ClinGen TOPMed |
|
|
rs1590172242 CA378632798 |
472 | Q>K | No |
ClinGen Ensembl |
|
|
CA378632774 rs1564846756 |
475 | I>F | No |
ClinGen Ensembl |
|
|
rs1237995287 CA378632767 |
476 | L>F | No |
ClinGen gnomAD |
|
|
COSM203233 rs753436566 CA215229009 |
477 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA5732798 rs753436566 |
477 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5732797 rs367705392 |
477 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA215229006 rs367705392 |
477 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378632739 rs1422096064 |
481 | H>D | No |
ClinGen TOPMed |
|
|
CA378632721 rs1219654062 |
483 | S>F | No |
ClinGen gnomAD |
|
|
CA5732795 rs576695868 |
484 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576695868 CA5732796 |
484 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378632714 rs1403959315 |
485 | V>I | No |
ClinGen gnomAD |
|
|
rs761789617 CA5732793 |
488 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299520036 CA378632690 |
488 | T>S | No |
ClinGen gnomAD |
|
|
rs1448217502 CA378632683 |
489 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 490 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61751898 CA215228927 |
491 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774183284 CA5732792 |
491 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA5732789 rs776840518 |
493 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5732788 COSM1726954 rs145783909 |
497 | N>Y | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA5732787 rs747247902 |
498 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA378632370 rs1590167828 |
499 | G>A | No |
ClinGen Ensembl |
|
|
rs1378964133 CA378632619 |
499 | G>R | No |
ClinGen TOPMed |
|
|
CA215227225 rs34096710 |
500 | P>A | No |
ClinGen gnomAD |
|
|
CA378632368 rs34096710 |
500 | P>T | No |
ClinGen gnomAD |
|
|
CA5732762 rs779659372 |
501 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs755713145 CA5732761 |
502 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204433309 CA378632342 |
502 | S>R | No |
ClinGen TOPMed |
|
|
CA215227203 rs779199392 |
505 | Q>R | No |
ClinGen Ensembl |
|
|
rs745407524 CA5732760 |
507 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA215227185 rs958149660 |
511 | K>E | No |
ClinGen Ensembl |
|
|
rs1294695378 CA378632202 |
511 | K>R | No |
ClinGen Ensembl |
|
|
rs1182927775 CA378632170 |
513 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1346547 rs202236206 CA5732757 |
514 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1193812035 CA378632157 |
514 | A>V | No |
ClinGen gnomAD |
|
|
rs751247974 CA378632104 |
518 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378632093 rs1246429753 COSM1248315 |
519 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA215227148 rs1031395822 |
520 | P>L | No |
ClinGen TOPMed |
|
|
CA5732755 rs371109329 |
520 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5732753 rs752664325 |
523 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1448169808 CA378632023 |
523 | R>W | No |
ClinGen gnomAD |
|
|
rs1178003225 CA378631977 |
526 | G>V | No |
ClinGen TOPMed |
|
|
rs982427414 CA215227110 |
527 | P>L | No |
ClinGen TOPMed |
|
|
CA378631931 rs1441405117 |
529 | W>L | No |
ClinGen TOPMed |
|
|
rs1327278875 CA378631900 |
530 | P>L | No |
ClinGen gnomAD |
|
|
CA5732751 rs765199201 |
530 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA378631909 rs765199201 |
530 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA5732750 rs773338113 |
531 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5732748 rs200264048 |
531 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773338113 CA5732749 |
531 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378631875 rs1245663733 |
533 | Q>* | No |
ClinGen gnomAD |
|
|
CA5732747 rs762098557 |
533 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384694634 CA378631828 |
535 | I>T | No |
ClinGen gnomAD |
|
|
rs774519865 CA5732745 |
537 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1281580042 CA378631804 |
537 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM1346546 rs774519865 CA5732742 |
537 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
TCGA novel rs769084259 CA5732741 |
539 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
rs749717029 CA5732739 |
540 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs61740008 CA5732738 |
541 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780855747 CA5732735 |
545 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA215227009 rs776567714 |
545 | A>V | No |
ClinGen Ensembl |
|
|
CA5732732 rs566025595 |
548 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5732734 rs770435977 |
548 | A>T | No |
ClinGen ExAC |
|
|
rs566025595 CA5732733 |
548 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752539430 CA5732730 |
550 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5732728 rs754974252 |
551 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5732726 rs767648594 |
552 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5732725 rs761889134 |
553 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs764261201 CA5732723 |
554 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5732724 rs201307325 |
554 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378631536 rs764261201 |
554 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5732722 rs763384902 |
555 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs148977403 CA5732719 |
557 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5732718 rs377640808 |
557 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs570907472 CA5732716 |
560 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201459284 CA5732715 |
560 | T>M | Variant assessed as Somatic; 0.0001388 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5732714 rs771680734 |
561 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5732713 rs747931234 |
561 | T>M | No |
ClinGen ExAC |
|
|
rs747931234 CA378631419 |
561 | T>R | No |
ClinGen ExAC |
|
|
rs1371970993 CA378631407 |
562 | T>G | No |
ClinGen Ensembl |
No associated diseases with Q7LFX5
No regional properties for Q7LFX5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q7LFX5 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.8.2.33 | Sulfotransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| 3'-phosphoadenosine 5'-phosphosulfate binding | Binding to 3'-phosphoadenosine 5'-phosphosulfate (PAPS), a naturally occurring mixed anhydride. It is an intermediate in the formation of a variety of sulfo compounds in biological systems. |
| N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity | Catalysis of the reactions: 3'-phosphoadenylyl sulfate + dermatan = adenosine 3',5'-bisphosphate + dermatan 6'-sulfate and 3'-phosphoadenylyl sulfate + chondroitin = adenosine 3',5'-bisphosphate + chondroitin 6'-sulfate. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| chondroitin sulfate biosynthetic process | The chemical reactions and pathways resulting in the formation of chondroitin sulfate, any member of a group of 10-60 kDa glycosaminoglycans, widely distributed in cartilage and other mammalian connective tissues, the repeat units of which consist of beta-(1,4)-linked D-glucuronyl beta-(1,3)-N-acetyl-D-galactosamine sulfate. |
| hexose biosynthetic process | The chemical reactions and pathways resulting in the formation of hexose, any monosaccharide with a chain of six carbon atoms in the molecule. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRHCINCCIQ | LLPDGAHKQQ | VNCQGGPHHG | HQACPTCKGE | NKILFRVDSK | QMNLLAVLEV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RTEGNENWGG | FLRFKKGKRC | SLVFGLIIMT | LVMASYILSG | AHQELLISSP | FHYGGFPSNP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLMDSENPSD | TKEHHHQSSV | NNISYMKDYP | SIKLIINSIT | TRIEFTTRQL | PDLEDLKKQE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LHMFSVIPNK | FLPNSKSPCW | YEEFSGQNTT | DPYLTNSYVL | YSKRFRSTFD | ALRKAFWGHL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AHAHGKHFRL | RCLPHFYIIG | QPKCGTTDLY | DRLRLHPEVK | FSAIKEPHWW | TRKRFGIVRL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RDGLRDRYPV | EDYLDLFDLA | AHQIHQGLQA | SSAKEQSKMN | TIIIGEASAS | TMWDNNAWTF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FYDNSTDGEP | PFLTQDFIHA | FQPNARLIVM | LRDPVERLYS | DYLYFASSNK | SADDFHEKVT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| EALQLFENCM | LDYSLRACVY | NNTLNNAMPV | RLQVGLYAVY | LLDWLSVFDK | QQFLILRLED |
| 490 | 500 | 510 | 520 | 530 | 540 |
| HASNVKYTMH | KVFQFLNLGP | LSEKQEALMT | KSPASNARRP | EDRNLGPMWP | ITQKILRDFY |
| 550 | 560 | ||||
| RPFNARLAQV | LADEAFAWKT | T |