Q9NRB3
Gene name |
CHST12 (UNQ500/PRO1017) |
Protein name |
Carbohydrate sulfotransferase 12 |
Names |
Chondroitin 4-O-sulfotransferase 2, Chondroitin 4-sulfotransferase 2, C4ST-2, C4ST2, Sulfotransferase Hlo |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55501 |
EC number |
2.8.2.5: 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 Q9NRB3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NRB3-F1 | Predicted | AlphaFoldDB |
479 variants for Q9NRB3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs749112375 CA4126098 |
2 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366606955 rs1206460610 |
4 | A>V | No |
ClinGen gnomAD |
|
|
rs778630466 CA152602971 |
5 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455540872 CA366606958 |
5 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4126100 rs778630466 |
5 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126101 rs747931126 |
6 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1478160321 CA366606965 |
7 | F>I | No |
ClinGen gnomAD |
|
|
CA366606974 rs1379528409 |
8 | R>Q | No |
ClinGen gnomAD |
|
|
COSM3923420 CA4126102 rs375672884 |
8 | R>W | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4126103 rs772825820 |
9 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1431449304 CA366606991 |
11 | L>V | No |
ClinGen gnomAD |
|
|
CA4126104 rs760197641 |
12 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 13 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755678792 CA4126105 |
13 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777212687 CA4126106 |
15 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA366607012 rs1430278569 COSM178368 |
15 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs763389286 CA366607018 |
16 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs763389286 CA4126110 |
16 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA366607015 rs546286632 |
16 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4126109 rs546286632 |
16 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366607028 rs1291642313 |
18 | M>V | No |
ClinGen gnomAD |
|
|
CA366607037 rs1354868802 |
19 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 21 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1451715448 CA366607060 |
23 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1245839157 CA366607084 |
26 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 27 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4126114 rs781074899 |
28 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4126115 rs750502987 |
28 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA366607104 rs754936215 |
29 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126116 rs754936215 |
29 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165003979 CA366607112 |
30 | G>D | No |
ClinGen gnomAD |
|
|
CA366607109 rs1456314542 |
30 | G>S | No |
ClinGen gnomAD |
|
|
rs1165003979 CA366607114 |
30 | G>V | No |
ClinGen gnomAD |
|
|
CA152603089 rs1054296869 |
31 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs149493991 CA366607121 |
32 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1450099 rs149493991 CA4126119 |
32 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4126120 rs777430276 |
32 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541011645 CA4126122 |
35 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs906965994 CA152603144 |
35 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1247584609 CA366607147 |
36 | L>V | No |
ClinGen gnomAD |
|
|
rs929043390 CA152603153 |
38 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs376187790 CA4126123 |
39 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759058041 CA4126124 |
40 | F>L | No |
ClinGen ExAC |
|
|
rs1583226173 CA366607580 |
41 | S>P | No |
ClinGen Ensembl |
|
|
rs1465983827 CA366607610 |
43 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs763442722 CA4126127 |
44 | H>Y | No |
ClinGen ExAC |
|
|
CA366607638 rs1421880747 |
45 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA366607636 rs1421880747 |
45 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366607646 rs1369014384 |
46 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs750508134 CA4126132 |
47 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA366607661 rs750508134 |
47 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA366607656 rs1157040167 |
47 | P>S | No |
ClinGen gnomAD |
|
|
COSM1568457 rs756193680 CA4126133 |
48 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs758190950 CA4126137 |
51 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs758190950 CA4126136 |
51 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs756902847 CA4126139 |
52 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126140 rs3735099 VAR_021471 |
52 | P>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756902847 CA366607712 |
52 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756902847 CA366607709 |
52 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769309077 CA4126142 |
53 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126144 rs1554282006 |
54 | P>A | No |
ClinGen Ensembl |
|
|
rs563115579 CA4126146 |
54 | P>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs563115579 CA4126147 |
54 | P>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
CA366607731 rs1554282006 |
54 | P>S | No |
ClinGen Ensembl |
|
|
rs1554282006 CA4126143 |
54 | P>T | No |
ClinGen Ensembl |
|
|
rs749755603 CA4126150 |
56 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1237316859 CA366607780 |
57 | D>E | No |
ClinGen gnomAD |
|
|
CA366607769 rs900044566 |
57 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA152603314 rs900044566 |
57 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4126151 rs769271363 |
58 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs774922808 CA4126152 |
58 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114841399 CA4126154 |
60 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366607818 rs1175565150 |
61 | T>M | No |
ClinGen gnomAD |
|
|
CA4126155 VAR_021472 rs3735100 |
61 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366607833 rs1562519975 |
63 | D>A | No |
ClinGen Ensembl |
|
|
CA366607852 rs1408529866 |
65 | D>E | No |
ClinGen gnomAD |
|
|
CA152603353 rs955669873 |
65 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4126158 rs753905050 |
66 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562519990 CA366607858 COSM1248311 |
67 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA366607880 rs1353701120 |
69 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 70 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751363984 CA4126161 |
72 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437492360 CA366607903 |
73 | F>L | No |
ClinGen TOPMed |
|
|
rs1270904407 CA366607921 |
74 | L>V | No |
ClinGen TOPMed |
|
|
rs1310083399 CA366607940 |
75 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs757030475 CA4126162 |
75 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1256355613 CA366607959 |
75 | S>R | No |
ClinGen gnomAD |
|
|
CA4126163 rs780741537 |
78 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1031672043 CA152603388 |
81 | S>N | No |
ClinGen TOPMed |
|
|
CA152603401 rs17132393 |
82 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4126165 rs17132393 |
82 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200895324 CA4126167 |
85 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769324562 CA4126169 |
88 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769324562 CA366608219 |
88 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152603446 rs974191414 |
89 | E>D | No |
ClinGen TOPMed |
|
|
CA4126171 rs748481497 |
89 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4126172 rs772439530 |
90 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA366608252 rs1371752405 |
90 | Q>H | No |
ClinGen gnomAD |
|
|
CA366608256 rs773306630 |
91 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773306630 CA4126173 |
91 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766587075 CA4126175 |
92 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126177 rs759592836 |
93 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA366608289 rs1562520102 |
93 | A>V | No |
ClinGen Ensembl |
|
|
rs12536223 CA4126179 VAR_033738 |
94 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366608293 rs1225939687 |
94 | P>T | No |
ClinGen gnomAD |
|
|
CA366608313 rs1308017439 |
95 | G>V | No |
ClinGen gnomAD |
|
|
CA366608331 rs1263752095 |
96 | S>N | No |
ClinGen gnomAD |
|
|
rs1159527537 CA366608347 |
97 | M>T | No |
ClinGen TOPMed |
|
|
rs1191965837 CA366608342 |
97 | M>V | No |
ClinGen gnomAD |
|
|
CA152603553 rs928477047 |
98 | E>K | No |
ClinGen TOPMed |
|
|
CA366608384 rs1448005789 |
99 | E>D | No |
ClinGen gnomAD |
|
|
CA366608374 rs1469760553 |
99 | E>Q | No |
ClinGen TOPMed |
|
|
rs929073775 CA152603557 |
100 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA152603568 rs1047472098 |
101 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA366608427 rs1423730964 |
102 | R>K | No |
ClinGen gnomAD |
|
|
rs1347581626 CA366608457 |
104 | Y>C | No |
ClinGen gnomAD |
|
|
CA152603629 rs61729409 |
105 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA366608470 rs61729409 |
105 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1316195744 CA366608500 |
107 | S>A | No |
ClinGen gnomAD |
|
|
rs571043155 CA4126188 |
108 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754487868 CA4126187 |
108 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs17132395 CA152603645 |
109 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17132395 CA366608520 |
109 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1362474794 CA366608523 |
109 | R>H | No |
ClinGen gnomAD |
|
|
VAR_021473 rs17132395 CA4126189 |
109 | R>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366608542 rs771193781 |
110 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs747308551 CA4126192 |
110 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA152603675 rs747308551 |
110 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366608547 rs1214435310 |
111 | A>T | No |
ClinGen gnomAD |
|
|
CA152603708 rs527427286 |
111 | A>V | No |
ClinGen Ensembl |
|
|
rs553499652 CA4126196 |
112 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366608562 rs774169204 |
112 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs774169204 CA366608561 |
112 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA4126197 rs774169204 |
112 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs553499652 CA4126195 COSM239330 |
112 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1210883765 CA366608565 |
113 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA366608569 rs1249032971 |
113 | R>H | No |
ClinGen gnomAD |
|
|
rs201387415 CA4126199 |
114 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1044236800 CA152603738 |
114 | S>R | No |
ClinGen Ensembl |
|
|
CA4126200 rs750271419 |
115 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs559930657 CA4126201 |
116 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4126202 rs766150878 |
117 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366608604 rs754537174 |
119 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126205 rs199799991 |
119 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754537174 CA4126204 |
119 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366608607 rs1322178783 |
120 | Q>* | No |
ClinGen gnomAD |
|
|
CA366608609 rs1322178783 |
120 | Q>K | No |
ClinGen gnomAD |
|
|
rs1345539283 CA366608616 |
121 | Q>E | No |
ClinGen gnomAD |
|
|
CA4126206 rs752131799 |
122 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA366608632 rs1381261443 |
123 | E>G | No |
ClinGen gnomAD |
|
|
rs1300972439 CA366608628 |
123 | E>K | No |
ClinGen gnomAD |
|
|
rs747399350 CA4126209 |
124 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA4126208 rs778123979 |
124 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285280007 CA366608645 |
125 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746034097 CA4126212 |
127 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769991079 CA4126213 |
128 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA152603841 rs1023309966 |
129 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs775707171 CA4126214 |
129 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1250381282 CA366608667 |
130 | G>D | No |
ClinGen gnomAD |
|
|
CA4126215 rs11537796 |
130 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs11537796 CA4126216 |
130 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4126218 rs760576980 |
133 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs995176327 CA152603881 |
133 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA366608694 rs1413634548 |
134 | N>S | No |
ClinGen gnomAD |
|
|
CA366608693 rs1413634548 |
134 | N>T | No |
ClinGen gnomAD |
|
|
CA366608721 rs1583226914 |
138 | A>G | No |
ClinGen Ensembl |
|
|
CA4126223 rs371205781 |
140 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4126224 rs757801917 |
142 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280290819 CA366608757 COSM1450101 |
144 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1344594888 CA366608760 |
144 | R>H | No |
ClinGen gnomAD |
|
|
CA366608763 rs1308002135 |
145 | A>E | No |
ClinGen gnomAD |
|
|
rs17132399 CA4126225 VAR_021474 |
145 | A>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs17132399 CA4126226 |
145 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4126227 rs17132399 |
145 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746228708 CA4126229 COSM1088690 |
147 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs17132405 CA152603977 |
148 | D>H | No |
ClinGen gnomAD |
|
|
rs17132405 CA366608781 |
148 | D>N | No |
ClinGen gnomAD |
|
|
rs559408178 CA366608838 |
151 | N>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs559408178 CA152603984 |
151 | N>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA366608865 rs1477486505 |
152 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA366608858 rs1477486505 |
152 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA152603990 rs976264691 |
153 | E>D | No |
ClinGen gnomAD |
|
|
rs1426971107 CA366608879 |
153 | E>G | No |
ClinGen gnomAD |
|
|
CA366608956 rs1329606427 |
157 | L>P | No |
ClinGen gnomAD |
|
|
rs762617272 CA366608983 |
158 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366608995 rs1214104168 |
159 | V>A | No |
ClinGen TOPMed |
|
|
CA366608987 rs1434543866 |
159 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA366609004 rs1276877508 |
160 | D>N | No |
ClinGen gnomAD |
|
|
CA366609032 rs1295963135 |
161 | D>G | No |
ClinGen gnomAD |
|
|
rs776631765 CA4126237 |
161 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366609049 rs1196946734 |
162 | R>Q | No |
ClinGen gnomAD |
|
|
rs759386693 CA152604022 |
162 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774969501 CA152604036 |
163 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
CA366609110 rs1450580849 |
164 | G>E | No |
ClinGen gnomAD |
|
|
CA366609102 rs1259123502 |
164 | G>R | No |
ClinGen gnomAD |
|
|
rs762532255 CA4126241 |
165 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA366609136 rs1454521359 |
165 | A>V | No |
ClinGen gnomAD |
|
|
CA366609141 rs1187709930 |
166 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA366609231 rs1476348634 |
169 | Y>* | No |
ClinGen gnomAD |
|
|
rs141491707 CA4126242 |
172 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403694832 CA366609312 |
173 | V>M | No |
ClinGen gnomAD |
|
|
rs932007958 CA152604040 |
174 | A>V | No |
ClinGen Ensembl |
|
|
rs1306077084 CA366609378 |
176 | T>A | No |
ClinGen TOPMed |
|
|
CA366609411 rs757829489 |
177 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs767708312 CA152604070 |
177 | N>S | No |
ClinGen Ensembl |
|
|
CA4126245 rs767981606 |
178 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366609445 rs767981606 |
178 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366609510 rs1367882767 |
180 | R>C | No |
ClinGen gnomAD |
|
|
rs935402722 CA152604081 |
180 | R>H | No |
ClinGen gnomAD |
|
|
rs921578089 CA152604084 |
181 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs369631627 CA4126248 |
181 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366609571 rs150939856 |
183 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274589872 CA366609565 |
183 | I>T | No |
ClinGen gnomAD |
|
|
CA366609581 CA366609583 rs1207794867 |
184 | V>L | No |
ClinGen gnomAD |
|
|
CA152604104 rs779187721 |
185 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs779187721 CA4126251 |
185 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA366609647 rs140680045 |
186 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366609670 rs1396888485 |
187 | G>E | No |
ClinGen TOPMed |
|
|
CA366609666 rs1193748803 |
187 | G>R | No |
ClinGen gnomAD |
|
|
rs771029499 CA4126253 |
188 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1453629953 CA366609724 |
190 | L>P | No |
ClinGen TOPMed |
|
|
CA366609739 rs1562520635 |
191 | H>P | No |
ClinGen Ensembl |
|
|
CA4126256 rs769411909 |
192 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs769411909 CA152604118 |
192 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1387571526 CA366609764 |
192 | R>H | No |
ClinGen gnomAD |
|
|
rs769411909 CA366609760 |
192 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA4126257 rs775222372 |
193 | G>D | Variant assessed as Somatic; 0.0001408 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4126258 rs762571390 |
194 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs905098497 CA152604135 |
194 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1250196679 CA366609827 |
195 | P>S | No |
ClinGen TOPMed |
|
|
rs891338257 CA152604156 |
196 | Y>* | No |
ClinGen TOPMed |
|
|
rs763800767 CA4126259 |
196 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA4126260 rs773892319 |
197 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352524568 CA366609927 |
198 | D>N | No |
ClinGen gnomAD |
|
|
CA4126262 rs768032590 |
199 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126263 rs768032590 |
199 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152604176 rs768032590 |
199 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366609953 rs1205505740 |
199 | P>S | No |
ClinGen gnomAD |
|
|
rs1190067056 CA366609992 |
200 | L>P | No |
ClinGen gnomAD |
|
|
CA366609988 rs1190067056 |
200 | L>R | No |
ClinGen gnomAD |
|
|
CA4126264 rs150119279 |
201 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4126265 rs200298794 |
201 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA152604229 rs570692238 |
203 | P>A | No |
ClinGen gnomAD |
|
|
rs1003931693 CA366610074 |
203 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1003931693 CA152604233 |
203 | P>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 204 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1015048324 CA152604251 |
204 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4126267 rs551275629 |
204 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4126268 COSM3026427 rs138563894 |
205 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs140606388 CA366610148 |
206 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1314072205 COSM746370 CA366610142 |
206 | H>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA366610159 rs1408721621 |
207 | V>M | No |
ClinGen gnomAD |
|
|
CA366610206 rs1285997593 |
209 | N>D | No |
ClinGen gnomAD |
|
|
CA4126272 RCV000965029 rs73279322 |
210 | A>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA366610246 rs1255191526 |
211 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA366610253 rs146540649 CA366610254 |
211 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4126276 rs138409451 |
212 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4126274 rs779780817 |
212 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4126275 rs138409451 |
212 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366610310 rs1260775923 |
213 | H>Q | No |
ClinGen gnomAD |
|
|
rs1486584455 CA366610317 |
214 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773781470 CA4126280 |
217 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs190070405 CA4126279 |
217 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761140993 CA4126281 |
218 | K>E | No |
ClinGen ExAC |
|
|
CA4126282 rs535548651 |
218 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1347807624 CA366610504 |
220 | W>C | No |
ClinGen TOPMed |
|
|
rs555747319 CA152604396 |
220 | W>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs754192915 CA4126283 |
221 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126284 rs754192915 |
221 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126286 rs3735101 |
222 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4126287 rs3735101 |
222 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4126288 rs3735101 |
222 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756048428 CA4126290 |
224 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366610659 rs1391581822 |
226 | L>F | No |
ClinGen gnomAD |
|
|
rs1439296119 CA366610685 |
227 | S>F | No |
ClinGen gnomAD |
|
|
CA366610692 rs1160163839 |
228 | R>C | No |
ClinGen gnomAD |
|
|
CA366610700 rs1368456151 |
228 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA4126292 COSM139694 rs749058028 |
231 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4126291 rs780019697 |
231 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs768398307 CA4126293 |
232 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1562520899 CA366610795 |
232 | K>R | No |
ClinGen Ensembl |
|
|
CA4126294 rs778540478 |
234 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126295 rs200915536 |
235 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA152604526 rs771696284 |
236 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 239 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1448201935 CA366611140 |
244 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA366611173 rs1393551872 |
245 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4126301 rs759986263 |
246 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126299 rs771388136 |
246 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs771388136 CA4126300 |
246 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA366611243 rs1292544836 |
247 | P>S | No |
ClinGen gnomAD |
|
|
rs775988101 CA4126304 |
248 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA366611325 rs1254761720 |
250 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4126305 rs764346650 |
253 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs751642480 CA4126306 |
254 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 254 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366611399 rs1486422863 |
255 | F>S | No |
ClinGen TOPMed |
|
|
rs1469981881 CA366611417 |
256 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4126308 rs754434576 |
256 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA152604605 rs754434576 |
256 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA366611453 rs1463862579 |
258 | K>T | No |
ClinGen gnomAD |
|
|
rs1562521029 CA366611458 |
259 | F>I | No |
ClinGen Ensembl |
|
|
rs147486579 CA152604606 |
259 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1420887965 CA366611465 |
260 | E>K | No |
ClinGen gnomAD |
|
|
CA4126310 rs201924381 |
262 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366611481 rs201924381 |
262 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366611482 rs201924381 |
262 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366611486 rs1415103402 |
263 | N>D | No |
ClinGen gnomAD |
|
|
rs778736672 CA4126312 |
265 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA366611516 rs1428417973 |
267 | Y>N | No |
ClinGen gnomAD |
|
|
CA366611526 rs1362586821 |
268 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4126314 rs758082936 |
268 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366611528 rs758082936 COSM367738 |
268 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs139931229 CA152604619 |
269 | K>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs777456839 CA4126315 |
270 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770409799 CA4126317 |
271 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562521093 CA366611546 |
271 | A>V | No |
ClinGen Ensembl |
|
|
rs145448026 CA4126319 |
272 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4126320 rs372379165 |
274 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4126321 rs776039191 |
275 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs147835348 CA4126322 |
276 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1201149 rs1483202953 CA366611572 |
276 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
| TCGA novel | 277 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195909512 CA836848766 |
278 | Y>* | No |
ClinGen TOPMed |
|
|
rs774590800 CA4126324 |
279 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA366611598 rs1236698593 |
280 | N>K | No |
ClinGen gnomAD |
|
|
rs761803217 CA4126325 |
280 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767575231 CA4126326 |
281 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750488434 CA4126327 |
281 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs369300204 CA4126328 |
282 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369300204 CA366611609 |
282 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152604676 rs369300204 |
282 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465455829 CA366611616 |
283 | S>R | No |
ClinGen gnomAD |
|
|
CA4126331 rs3735102 |
284 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4126330 rs3735102 |
284 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1357395706 CA366611623 |
285 | P>S | No |
ClinGen gnomAD |
|
|
rs201518792 CA4126332 |
286 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366611627 rs201518792 |
286 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4126333 rs201518792 |
286 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1371477568 CA366611630 |
286 | A>V | No |
ClinGen gnomAD |
|
|
CA4126334 rs201092635 |
287 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1178165329 CA366611631 |
287 | S>T | No |
ClinGen gnomAD |
|
|
CA4126337 rs377228845 |
288 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4126335 rs780825891 |
288 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs377228845 CA4126336 |
288 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486326455 CA366611642 |
289 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4126340 COSM3778340 rs749702612 |
290 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4126339 rs749702612 |
290 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126341 rs139138201 |
290 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1171639115 CA366611667 |
293 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA152604817 rs926443192 |
293 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs551334726 CA152604831 |
294 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 295 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773315873 CA4126344 |
296 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126345 rs760718265 |
296 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs564776861 CA4126346 |
297 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA152604861 rs1036068705 |
301 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA366611717 rs1036068705 |
301 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1193188485 CA366611720 |
302 | N>D | No |
ClinGen TOPMed |
|
|
rs762671753 CA366611722 |
302 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA366611724 rs1450097506 |
302 | N>K | No |
ClinGen TOPMed |
|
|
CA4126348 rs762671753 |
302 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs756975329 CA4126351 |
304 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs149964335 CA4126350 |
304 | I>V | No |
ClinGen ESP ExAC TOPMed |
|
|
CA4126352 rs780970226 |
305 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4126353 rs749976546 |
306 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA366611788 rs1236187075 |
308 | L>Q | No |
ClinGen TOPMed |
|
|
rs1191530897 CA366611782 |
308 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1398063454 CA366611819 |
310 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA366611826 rs1302446064 |
311 | H>Y | No |
ClinGen TOPMed |
|
|
rs1167931554 CA366611847 |
312 | T>A | No |
ClinGen gnomAD |
|
|
CA152604913 rs1016143015 |
312 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA152604922 rs369708294 |
313 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs769029545 CA4126357 |
316 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA152604925 rs372260944 |
318 | F>V | No |
ClinGen ESP |
|
|
CA366611964 rs1372232212 |
319 | N>S | No |
ClinGen gnomAD |
|
|
CA4126359 rs748426370 |
320 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 322 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773370946 CA4126361 |
323 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA152604957 rs1040667458 |
323 | R>W | No |
ClinGen Ensembl |
|
|
CA366612086 rs1583228204 |
324 | Q>P | No |
ClinGen Ensembl |
|
|
rs770942267 CA4126363 |
325 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA4126362 rs760772352 |
325 | V>L | No |
ClinGen ExAC TOPMed |
|
|
CA366612094 rs760772352 |
325 | V>M | No |
ClinGen ExAC TOPMed |
|
|
CA4126364 rs149036634 |
326 | Y>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1583228221 CA366612103 |
326 | Y>D | No |
ClinGen Ensembl |
|
|
CA366612122 rs1562521409 |
327 | R>C | No |
ClinGen Ensembl |
|
|
rs763017221 CA4126365 |
327 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4126366 rs763911212 |
330 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1468789893 CA366612172 |
331 | P>A | No |
ClinGen gnomAD |
|
|
rs1468789893 CA366612171 |
331 | P>T | No |
ClinGen gnomAD |
|
|
rs1583228263 CA366612184 |
332 | C>G | No |
ClinGen Ensembl |
|
|
CA4126369 rs767311065 |
333 | Q>* | No |
ClinGen ExAC |
|
|
CA4126370 rs750031636 |
333 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755697079 CA4126371 |
334 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126372 rs779767608 |
335 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126374 rs144571580 |
336 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367701587 CA4126373 |
336 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1417325750 CA366612213 |
336 | Y>N | No |
ClinGen gnomAD |
|
|
CA366612218 rs1395609548 |
337 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1395609548 CA366612217 |
337 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1395609548 CA366612219 |
337 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs889331164 CA152605085 |
338 | F>V | No |
ClinGen Ensembl |
|
|
rs1001435272 CA152605094 |
339 | V>L | No |
ClinGen gnomAD |
|
|
CA4126377 rs758647822 |
341 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1562521489 CA366612273 |
343 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4126380 rs566917474 |
346 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146696158 CA4126379 |
346 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1333574687 CA366612319 |
346 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs771140571 CA4126381 |
347 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771140571 CA366612332 |
347 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204340651 CA366612358 |
348 | D>E | No |
ClinGen gnomAD |
|
|
rs776736248 CA4126383 |
349 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 349 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366612372 rs1237915665 |
350 | A>T | No |
ClinGen TOPMed |
|
|
CA152605130 rs957160573 |
350 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4126385 rs373447971 |
351 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769805486 CA4126386 |
351 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs535979468 CA4126388 |
354 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs549186201 CA366612471 |
357 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs549186201 CA4126391 |
357 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1583228427 CA366612483 |
358 | V>G | No |
ClinGen Ensembl |
|
|
CA4126392 rs766097978 |
359 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA152605169 rs947567953 |
360 | R>P | No |
ClinGen TOPMed |
|
|
rs770683070 CA152605168 |
360 | R>W | No |
ClinGen gnomAD |
|
|
rs1159328312 COSM600531 CA366612524 |
361 | Q>H | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs140313101 CA4126394 |
363 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4126395 rs765801534 |
363 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA366612542 rs765801534 |
363 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA4126400 rs758895814 |
364 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1235025825 CA366612552 |
364 | F>V | No |
ClinGen gnomAD |
|
|
CA4126401 rs747346474 |
365 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1258705372 CA366612575 |
366 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs757528849 CA4126402 |
366 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757528849 CA4126403 |
366 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366612588 rs1279559635 |
367 | S>R | No |
ClinGen gnomAD |
|
|
rs774360451 CA4126406 |
369 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126405 rs769696583 |
369 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs952609575 CA152605249 |
370 | N>K | No |
ClinGen Ensembl |
|
|
CA366612647 rs1187557350 |
371 | R>K | No |
ClinGen gnomAD |
|
|
CA4126408 rs772129359 |
371 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA366612664 rs1258273356 |
372 | T>S | No |
ClinGen gnomAD |
|
|
rs1294580001 CA366612693 |
373 | A>P | No |
ClinGen TOPMed |
|
|
CA366612704 rs1365891956 |
373 | A>V | No |
ClinGen gnomAD |
|
|
CA4126411 rs766151168 |
374 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs886435049 CA152605265 |
375 | S>R | No |
ClinGen TOPMed |
|
|
rs776106417 CA4126412 |
377 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs759088686 CA4126413 |
379 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402343438 CA366614108 |
380 | W>* | No |
ClinGen gnomAD |
|
|
CA4126414 rs764592338 |
381 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA366614144 rs1304441024 |
382 | A>T | No |
ClinGen gnomAD |
|
|
CA152605272 rs939914533 |
382 | A>V | No |
ClinGen Ensembl |
|
|
rs752248911 CA4126415 |
383 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA366614164 rs1583228633 |
383 | K>R | No |
ClinGen Ensembl |
|
|
rs758945031 CA4126416 |
385 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA366614202 rs1040697422 |
386 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1386817852 CA366614346 |
395 | L>F | No |
ClinGen TOPMed |
|
|
CA366614366 rs1167159420 |
396 | Y>C | No |
ClinGen TOPMed |
|
|
rs1004835880 CA152605314 |
397 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs780061144 CA4126423 |
399 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs756344721 CA4126422 |
399 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1476355101 CA366614457 |
402 | L>F | No |
ClinGen TOPMed |
|
|
rs749343942 CA4126424 |
402 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4126426 rs370862743 |
403 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770564391 CA4126428 |
406 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA366614532 rs1333459966 |
408 | P>S | No |
ClinGen TOPMed |
|
|
CA4126432 rs774912345 |
409 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs376180053 CA4126433 |
410 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1583228753 CA366614547 |
410 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 410 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1324970729 CA366614554 |
411 | L>F | No |
ClinGen gnomAD |
|
|
CA366614555 rs1368569743 |
411 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1324970729 CA366614552 |
411 | L>I | No |
ClinGen gnomAD |
|
|
rs1368569743 CA366614556 |
411 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs764621507 CA4126435 |
413 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4126434 rs764621507 |
413 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA366614564 rs762181254 |
413 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762181254 CA4126436 |
413 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225344030 CA366614566 |
414 | D>N | No |
ClinGen gnomAD |
No associated diseases with Q9NRB3
No regional properties for Q9NRB3
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9NRB3 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.8.2.5 | Sulfotransferases |
| 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 membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of Golgi membrane | The component of the Golgi 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. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
3 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. |
| chondroitin 4-sulfotransferase activity | Catalysis of the reaction: 3'-phosphoadenosine 5'-phosphosulfate + chondroitin = adenosine 3',5'-bisphosphate + chondroitin 4'-sulfate. |
| sulfotransferase activity | Catalysis of the transfer of a sulfate group from 3'-phosphoadenosine 5'-phosphosulfate to the hydroxyl group of an acceptor, producing the sulfated derivative and 3'-phosphoadenosine 5'-phosphate. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| carbohydrate biosynthetic process | The chemical reactions and pathways resulting in the formation of carbohydrates, any of a group of organic compounds based of the general formula Cx(H2O)y. |
| 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. |
| dermatan sulfate biosynthetic process | The chemical reactions and pathways resulting in the formation of dermatan sulfate, any glycosaminoglycan with repeats consisting of beta-(1,4)-linked L-iduronyl-beta-(1,3)-N-acetyl-D-galactosamine 4-sulfate units. |
| proteoglycan biosynthetic process | The chemical reactions and pathways resulting in the formation of proteoglycans, any glycoprotein in which the carbohydrate units are glycosaminoglycans. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O43529 | CHST10 | Carbohydrate sulfotransferase 10 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTKARLFRLW | LVLGSVFMIL | LIIVYWDSAG | AAHFYLHTSF | SRPHTGPPLP | TPGPDRDREL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TADSDVDEFL | DKFLSAGVKQ | SDLPRKETEQ | PPAPGSMEES | VRGYDWSPRD | ARRSPDQGRQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QAERRSVLRG | FCANSSLAFP | TKERAFDDIP | NSELSHLIVD | DRHGAIYCYV | PKVACTNWKR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VMIVLSGSLL | HRGAPYRDPL | RIPREHVHNA | SAHLTFNKFW | RRYGKLSRHL | MKVKLKKYTK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FLFVRDPFVR | LISAFRSKFE | LENEEFYRKF | AVPMLRLYAN | HTSLPASARE | AFRAGLKVSF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ANFIQYLLDP | HTEKLAPFNE | HWRQVYRLCH | PCQIDYDFVG | KLETLDEDAA | QLLQLLQVDR |
| 370 | 380 | 390 | 400 | 410 | |
| QLRFPPSYRN | RTASSWEEDW | FAKIPLAWRQ | QLYKLYEADF | VLFGYPKPEN | LLRD |