Q96EW2
PR
Gene name |
HSPBAP1 (PASS1) |
Protein name |
HSPB1-associated protein 1 |
Names |
27 kDa heat shock protein-associated protein 1, Protein associated with small stress protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79663 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q96EW2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96EW2-F1 | Predicted | AlphaFoldDB |
355 variants for Q96EW2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs775890980 CA2574112 |
3 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs772919480 CA2574109 |
6 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA354179238 rs1321481470 |
6 | E>K | No |
ClinGen gnomAD |
|
|
rs747607413 CA82819866 |
8 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747607413 CA2574107 |
8 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2574105 rs192616237 |
10 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2574104 rs192616237 |
10 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1457354045 CA354179024 |
12 | I>M | No |
ClinGen gnomAD |
|
|
CA2574102 rs756349603 |
13 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs751434368 CA2574103 |
13 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2574101 rs781332994 |
14 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2574100 rs781332994 |
14 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354178964 rs1560180253 |
15 | A>P | No |
ClinGen Ensembl |
|
|
rs751596885 CA2574097 |
17 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs757349624 CA2574098 |
17 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354178907 rs1469418553 |
18 | G>A | No |
ClinGen gnomAD |
|
|
CA354178855 rs1486974539 |
19 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs371279414 CA354198804 |
22 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2574077 rs371279414 |
22 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141356063 CA2574076 |
24 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2574075 rs753248356 |
27 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs889813388 CA82821988 |
29 | K>R | No |
ClinGen Ensembl |
|
|
COSM727849 rs765608517 CA2574074 |
31 | E>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs755419175 CA2574073 |
31 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 33 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2574072 rs763066030 |
33 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1398138748 COSM1037263 CA354198581 |
35 | E>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1398138748 CA354198583 |
35 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA354198534 rs1475500482 |
37 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1208738243 CA354198540 |
37 | I>T | No |
ClinGen TOPMed |
|
|
rs761538017 CA2574070 |
38 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1399641663 CA354198499 |
39 | S>C | No |
ClinGen gnomAD |
|
|
rs1399641663 CA354198496 |
39 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 39 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354198421 rs1171689006 |
43 | P>R | No |
ClinGen gnomAD |
|
|
CA354198404 rs1462044373 |
44 | A>S | No |
ClinGen gnomAD |
|
|
CA2574067 rs377757747 |
45 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA82821938 rs992024501 |
48 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1185568432 CA354198311 |
49 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2574065 rs770134320 |
49 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354198306 rs1444541368 |
50 | V>L | No |
ClinGen gnomAD |
|
|
rs1262139188 CA354198285 |
51 | F>C | No |
ClinGen gnomAD |
|
|
CA354198191 rs1363628014 |
56 | R>* | No |
ClinGen TOPMed |
|
|
rs1406752074 CA354198187 |
56 | R>Q | No |
ClinGen TOPMed |
|
|
rs373090215 CA2574061 |
57 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373090215 CA2574060 |
57 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293632449 CA354198151 |
58 | W>* | No |
ClinGen gnomAD |
|
|
rs747225451 CA2574059 |
58 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1036202412 CA82821919 |
61 | K>E | No |
ClinGen Ensembl |
|
|
rs527661624 CA2574056 |
62 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2574054 rs16833517 VAR_031703 |
64 | S>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1582550 CA2574053 rs184993518 |
64 | S>L | Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs369899031 CA2574050 |
65 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1423507849 CA354198059 |
65 | Q>R | No |
ClinGen gnomAD |
|
|
rs1251757804 CA354198008 |
70 | K>R | No |
ClinGen TOPMed |
|
|
CA354197995 rs1479829701 |
72 | I>V | No |
ClinGen TOPMed |
|
|
rs763604278 COSM1418347 CA2574048 |
73 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM1418346 CA354197988 rs1438614655 |
73 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs752115504 CA2574046 |
80 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752115504 CA82821887 |
80 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354197925 rs1273707141 |
81 | M>I | No |
ClinGen gnomAD |
|
|
rs200703799 CA2574045 |
82 | S>N | No |
ClinGen 1000Genomes ExAC |
|
|
CA2574026 rs753784584 |
85 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1189755522 CA354197311 |
86 | Q>H | No |
ClinGen TOPMed |
|
|
CA2574025 rs540251955 |
86 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 87 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354197267 rs1271137138 |
90 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2574022 rs767831428 |
91 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs768862285 CA2574019 |
94 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2574020 rs774642592 |
94 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354197185 rs1489140053 |
96 | A>G | No |
ClinGen gnomAD |
|
|
CA2574017 rs776172069 |
96 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746291497 CA2574016 |
98 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2574015 rs746291497 |
98 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2574014 rs574083990 |
99 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2574013 rs574083990 |
99 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747757699 CA2574012 |
100 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA354197121 rs1366857445 |
105 | N>D | No |
ClinGen TOPMed |
|
|
CA2574010 rs754502814 |
105 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138638475 CA2574008 |
108 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354197087 rs1576258412 |
109 | S>C | No |
ClinGen Ensembl |
|
|
CA354197084 rs1371759083 |
110 | S>G | No |
ClinGen TOPMed |
|
|
CA2574007 rs752811342 |
110 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs61755728 CA2574006 |
111 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354197026 rs1308079393 |
118 | Y>C | No |
ClinGen TOPMed |
|
|
rs767213813 CA354197001 |
119 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354196935 rs1412829819 |
124 | W>L | No |
ClinGen gnomAD |
|
|
rs1171231916 CA354196926 |
125 | A>G | No |
ClinGen gnomAD |
|
|
CA2574003 rs774728550 |
125 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1260717651 CA354196904 |
128 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 128 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354196881 rs374765914 |
129 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2574002 rs374765914 |
129 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2574001 rs763164775 |
130 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775688072 CA2574000 |
130 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs770389049 CA2573999 |
133 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA354196765 rs1320649590 |
136 | F>S | No |
ClinGen gnomAD |
|
|
rs1399747499 CA354196735 |
138 | D>G | No |
ClinGen gnomAD |
|
|
rs777126649 CA2573997 |
138 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249723454 COSM1037262 CA354196714 |
140 | T>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA82818269 rs142239599 |
143 | F>S | No |
ClinGen ESP TOPMed |
|
|
CA2573996 rs771210564 |
144 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2573986 rs371444834 |
145 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs560400192 CA2573985 |
145 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2573984 rs763253441 |
147 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576248708 CA354195151 |
148 | W>* | No |
ClinGen Ensembl |
|
|
rs752891352 CA2573983 |
150 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74824564 CA2573982 |
151 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2573980 rs368626167 |
152 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354195077 rs1449054409 |
152 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2573979 rs771425554 |
154 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1223744498 CA354194977 |
158 | G>R | No |
ClinGen TOPMed |
|
|
CA354194945 rs1274188254 |
160 | E>G | No |
ClinGen TOPMed |
|
|
rs1351360886 CA354194927 |
161 | S>N | No |
ClinGen gnomAD |
|
|
rs761072505 CA2573977 |
161 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82815647 rs376797309 |
161 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA354194902 rs1162455256 |
163 | L>S | No |
ClinGen gnomAD |
|
|
CA82815645 rs773546983 |
165 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA2573976 rs773546983 |
165 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2573975 rs768357559 |
169 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1320999067 CA354194777 |
171 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA82815642 rs936706794 |
174 | C>R | No |
ClinGen TOPMed |
|
|
rs1180195073 CA354194730 |
174 | C>Y | No |
ClinGen gnomAD |
|
|
rs1182863434 CA354194704 |
175 | H>P | No |
ClinGen TOPMed |
|
|
CA354194664 rs1383363960 |
178 | S>A | No |
ClinGen TOPMed |
|
|
CA2573971 rs745335301 |
178 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757237350 CA2573969 |
179 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2573970 rs781023739 |
179 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs751458603 CA2573968 |
180 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 180 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354194591 rs1167141849 |
182 | N>H | No |
ClinGen gnomAD |
|
|
rs1576248524 CA354194580 |
182 | N>I | No |
ClinGen Ensembl |
|
|
rs1460236523 CA354194505 |
188 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA2573966 rs758199745 |
190 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2573965 rs752979282 |
190 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs142592436 CA2573908 |
192 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2573907 rs148879243 |
192 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148879243 CA2573906 |
192 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1350816590 CA354193443 |
193 | W>* | No |
ClinGen gnomAD |
|
|
rs1278445826 CA354193438 |
193 | W>* | No |
ClinGen gnomAD |
|
|
rs145586654 CA2573905 |
193 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354193427 rs1226557221 |
194 | H>P | No |
ClinGen gnomAD |
|
|
CA354193386 rs1183294003 |
198 | P>L | No |
ClinGen gnomAD |
|
|
CA82814944 rs1053195705 |
199 | E>K | No |
ClinGen Ensembl |
|
|
CA2573903 rs746466636 |
200 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354193365 rs746466636 |
200 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773311963 CA2573902 |
201 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1320640098 CA354193353 |
202 | P>T | No |
ClinGen TOPMed |
|
|
rs1357220879 CA354193321 |
205 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 208 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354193267 rs1290271591 |
210 | P>A | No |
ClinGen gnomAD |
|
|
rs1290562036 CA354193207 |
215 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA82814939 rs763628005 |
216 | V>M | No |
ClinGen Ensembl |
|
|
rs1240435330 CA354193151 COSM3767203 |
220 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs778758109 CA2573898 |
221 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354193142 rs778758109 |
221 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78317309 CA2573897 |
221 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2573896 rs78317309 |
221 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 222 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354193099 rs1433045762 |
223 | V>D | No |
ClinGen Ensembl |
|
|
rs1335662547 CA354193103 |
223 | V>I | No |
ClinGen gnomAD |
|
|
CA2573894 rs756209031 |
224 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs768054812 CA2573893 |
224 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA2573892 rs768054812 |
224 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA354193045 rs1413138869 |
226 | D>E | No |
ClinGen TOPMed |
|
|
CA2573891 rs371493689 |
228 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA82814930 rs751933631 |
229 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2573889 rs115965208 |
229 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751933631 CA2573890 |
229 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82814927 rs931787097 |
230 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1382208061 CA354192980 |
231 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763169282 CA2573888 |
232 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs976147325 CA82814924 |
234 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2573887 rs776365018 |
234 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354192893 rs1443893204 |
236 | A>S | No |
ClinGen TOPMed |
|
|
rs566564740 CA82814922 |
237 | Q>K | No |
ClinGen Ensembl |
|
|
CA2573885 rs760299165 |
239 | H>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1210081 rs193249491 CA2573884 |
240 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs554144221 CA82814917 |
241 | V>I | No |
ClinGen gnomAD |
|
|
CA2573882 rs761808840 |
242 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2573880 rs61756481 |
243 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354192755 rs1218600284 |
244 | S>N | No |
ClinGen TOPMed |
|
|
rs1345195400 CA354192732 |
245 | P>R | No |
ClinGen gnomAD |
|
|
CA354192719 rs1275950576 |
246 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767061930 CA2573864 |
248 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219624955 CA354191621 |
249 | L>I | No |
ClinGen gnomAD |
|
|
rs774372337 CA2573862 |
251 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2573859 rs762847281 |
254 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs762847281 CA2573860 |
254 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2573857 rs770067314 |
255 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2573858 rs775244460 |
255 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1360105500 CA354191424 |
256 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 259 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2573854 rs781333058 |
259 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2573853 rs771063987 |
262 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1185509069 CA354191224 |
264 | P>L | No |
ClinGen gnomAD |
|
|
CA2573852 rs747016319 |
265 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1238655202 CA354191193 |
266 | T>S | No |
ClinGen gnomAD |
|
|
CA82814439 rs866853601 |
268 | S>G | No |
ClinGen Ensembl |
|
|
rs1201211094 CA354191147 |
268 | S>N | No |
ClinGen gnomAD |
|
|
CA354191122 rs1367557761 |
269 | I>V | No |
ClinGen TOPMed |
|
|
CA2573850 rs758807292 |
271 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs779417804 CA2573848 |
273 | I>M | No |
ClinGen ExAC |
|
|
CA2573849 rs753167541 |
273 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1302721404 CA354190991 |
274 | E>K | No |
ClinGen TOPMed |
|
|
rs763515324 CA354187137 |
280 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA2573811 rs757843762 |
282 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3408184 rs1161207850 CA354187111 |
282 | R>W | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs752653783 CA2573810 |
284 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1253312937 CA354187065 |
285 | E>V | No |
ClinGen TOPMed |
|
|
CA354187047 COSM1728753 rs1159906128 |
287 | I>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1416831424 CA354187013 |
289 | R>C | No |
ClinGen gnomAD |
|
|
CA2573809 rs748268421 COSM1566309 |
289 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs748268421 CA354187010 |
289 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2573807 rs776264047 |
290 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2573808 rs776811979 |
290 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1470810395 CA354186986 |
291 | L>F | No |
ClinGen TOPMed |
|
|
rs760799527 CA2573805 |
294 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2573806 rs373908110 |
294 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA82805591 rs1040761242 |
298 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 299 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354186887 rs1287073399 |
299 | E>G | No |
ClinGen gnomAD |
|
|
rs1241238364 CA354186828 |
303 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs772294654 CA2573803 |
306 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 307 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354186775 rs1331015403 |
307 | W>L | No |
ClinGen TOPMed |
|
|
CA354186740 rs1387278132 |
310 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 312 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416511845 CA354186645 |
313 | V>D | No |
ClinGen TOPMed |
|
|
rs769344925 CA2573779 |
313 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763366159 CA2573778 |
316 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 319 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2573775 rs746203540 |
321 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2573774 rs537005109 |
325 | L>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs867394931 CA82805376 |
327 | A>T | No |
ClinGen Ensembl |
|
|
CA354186427 rs1560101131 |
328 | A>D | No |
ClinGen Ensembl |
|
|
rs571724300 CA2573773 |
329 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354186336 rs1560101079 |
333 | F>I | No |
ClinGen Ensembl |
|
|
rs374027028 CA2573772 |
334 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2573771 rs778387110 |
335 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2573770 rs200178798 |
335 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354186278 rs1560101027 |
336 | C>S | No |
ClinGen Ensembl |
|
|
rs375740928 CA82805347 |
338 | T>A | No |
ClinGen TOPMed |
|
|
CA82805337 rs1056735277 |
338 | T>I | No |
ClinGen Ensembl |
|
|
CA2573768 rs779995280 |
340 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354186185 rs1469763370 |
341 | V>I | No |
ClinGen gnomAD |
|
|
rs750205834 CA2573766 |
343 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767900404 CA2573765 |
344 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs201067775 CA2573764 |
345 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 346 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1008871210 CA82805323 |
346 | A>P | No |
ClinGen TOPMed |
|
|
CA2573759 rs150906823 |
348 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2573760 rs775891618 |
348 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996759698 CA82805309 |
349 | T>R | No |
ClinGen TOPMed |
|
|
CA354185887 rs1313339562 |
352 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 353 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354185827 rs1487482569 |
354 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753444769 CA2573756 |
355 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1205110303 CA354185737 |
356 | K>R | No |
ClinGen gnomAD |
|
|
rs1380367934 CA354185712 |
357 | E>G | No |
ClinGen TOPMed |
|
|
rs1265655688 CA354185667 |
358 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA82805270 rs903798543 |
363 | N>S | No |
ClinGen TOPMed |
|
|
rs1052030383 CA82805269 |
364 | H>Y | No |
ClinGen Ensembl |
|
|
CA354185449 rs1336851107 |
365 | M>I | No |
ClinGen gnomAD |
|
|
CA2573753 rs528707410 |
365 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA82805264 rs763786705 |
365 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354185426 rs1236845108 |
366 | E>D | No |
ClinGen gnomAD |
|
|
rs1212237628 CA354185403 |
368 | G>D | No |
ClinGen TOPMed |
|
|
rs1212237628 CA354185398 |
368 | G>V | No |
ClinGen TOPMed |
|
|
rs748795293 CA2573752 |
370 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA354185350 rs1348803474 |
371 | G>S | No |
ClinGen gnomAD |
|
|
CA2573751 rs559725370 |
372 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA82805250 rs988086112 |
374 | N>S | No |
ClinGen Ensembl |
|
|
rs549582575 CA82805242 |
376 | T>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 377 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164389169 CA354185132 |
378 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354185127 rs1383417069 |
379 | T>A | No |
ClinGen gnomAD |
|
|
CA354185119 rs1162973490 |
379 | T>I | No |
ClinGen gnomAD |
|
|
CA2573749 rs750243130 |
380 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs145633460 CA2573750 |
380 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2573747 rs781131403 |
382 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432854327 CA354184877 |
386 | S>R | No |
ClinGen TOPMed |
|
|
rs973624171 CA82805194 |
389 | G>S | No |
ClinGen Ensembl |
|
|
rs144353961 CA82805188 |
389 | G>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA82805176 rs939142327 |
392 | L>M | No |
ClinGen TOPMed |
|
|
CA354184705 rs1240227536 |
392 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 396 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2573741 rs758446418 |
397 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1335495955 CA354184605 |
398 | R>K | No |
ClinGen gnomAD |
|
|
CA82805143 rs373793507 |
400 | E>K | Variant assessed as Somatic; 0.0001388 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA2573739 rs371225480 |
402 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2573740 rs752798844 |
402 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs766740346 CA2573736 |
403 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1560100175 CA354184474 |
406 | R>S | No |
ClinGen Ensembl |
|
|
CA354184466 rs1372724913 |
407 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 408 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1409494142 CA354184435 |
409 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA354184437 rs1307870017 |
409 | I>T | No |
ClinGen TOPMed |
|
|
rs61996313 CA2573734 |
409 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354184408 rs1261689078 |
412 | S>G | No |
ClinGen TOPMed |
|
|
rs768327697 CA2573733 |
413 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2573732 rs748802519 |
413 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA82805065 rs904994788 |
418 | V>A | No |
ClinGen Ensembl |
|
|
rs769688078 CA2573730 |
419 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216893105 CA354184241 |
420 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1281552684 CA354184207 |
421 | D>G | No |
ClinGen gnomAD |
|
|
CA354184191 rs1203860706 |
422 | G>R | No |
ClinGen gnomAD |
|
|
CA2573728 rs781219848 |
426 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA82805050 rs374109137 |
432 | K>R | No |
ClinGen ESP TOPMed |
|
|
CA2573724 rs758633219 |
434 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA2573723 rs572093679 |
434 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1316278617 CA354183955 |
435 | Q>E | No |
ClinGen gnomAD |
|
|
CA354183950 rs1212675949 |
435 | Q>R | No |
ClinGen gnomAD |
|
|
CA2573722 rs765359643 |
436 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1364170059 CA354183905 |
439 | N>H | No |
ClinGen TOPMed |
|
|
rs1406718345 CA354183855 |
443 | A>E | No |
ClinGen gnomAD |
|
|
rs754363582 CA354183850 |
444 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs754363582 CA2573720 |
444 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2573721 rs754952490 |
444 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354183830 rs1476207873 |
447 | Q>* | No |
ClinGen gnomAD |
|
|
CA2573715 rs763716513 |
447 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2573717 rs761070834 |
447 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs7429157 CA82804986 |
449 | A>D | No |
ClinGen Ensembl |
|
|
rs369633213 CA82804977 |
450 | S>* | No |
ClinGen Ensembl |
|
|
rs369633213 CA82804974 |
450 | S>L | No |
ClinGen Ensembl |
|
|
CA2573714 rs762662956 |
450 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354183800 rs1330133383 |
452 | T>N | No |
ClinGen TOPMed |
|
|
rs369636373 CA2573713 |
453 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 453 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769362015 CA2573712 COSM1037257 |
454 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs370465518 CA82804933 |
457 | Q>* | No |
ClinGen Ensembl |
|
|
rs374845664 CA82804905 |
457 | Q>H | No |
ClinGen Ensembl |
|
|
COSM1037256 rs377054072 CA82804915 |
457 | Q>P | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1275399313 CA354183758 |
459 | F>L | No |
ClinGen TOPMed |
|
|
CA82804898 rs1022224931 |
459 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1364328187 CA354183757 |
460 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 461 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745323875 CA2573710 |
462 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs150374037 CA2573709 |
462 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2573708 rs770968369 |
463 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA354183733 rs1231261032 |
463 | D>N | No |
ClinGen TOPMed |
|
|
CA354183721 rs1481621341 |
464 | D>N | No |
ClinGen TOPMed |
|
|
CA2573707 rs746857422 |
467 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474827265 CA354183669 |
468 | C>F | No |
ClinGen TOPMed |
|
|
rs777616134 CA2573706 |
469 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374016373 CA2573705 |
474 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1461663023 CA354183587 |
475 | T>N | No |
ClinGen TOPMed |
|
|
CA2573703 rs146510791 |
477 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354183569 rs1375199873 |
477 | I>V | No |
ClinGen gnomAD |
|
|
rs753886611 CA2573701 |
481 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2573699 rs555999827 |
484 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750853834 CA2573698 |
485 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354183457 rs1352395899 |
485 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 487 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
1 associated diseases with Q96EW2
Without disease ID
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| 2-oxoglutarate-dependent dioxygenase activity | Catalysis of the reaction: A + 2-oxoglutarate + O2 = B + succinate + CO2. This is an oxidation-reduction (redox) reaction in which hydrogen or electrons are transferred from 2-oxoglutarate and one other donor, and one atom of oxygen is incorporated into each donor. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q58CU3 | HSPBAP1 | HSPB1-associated protein 1 | Bos taurus (Bovine) | PR |
| E1C7T6 | TYW5 | tRNA wybutosine-synthesizing protein 5 | Gallus gallus (Chicken) | PR |
| Q8BK58 | Hspbap1 | HSPB1-associated protein 1 | Mus musculus (Mouse) | PR |
| Q5BKC6 | Hspbap1 | HSPB1-associated protein 1 | Rattus norvegicus (Rat) | PR |
| Q8RWR1 | JMJ30 | Lysine-specific demethylase JMJ30 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| B2GUS6 | kdm8 | Lysine-specific demethylase 8 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| Q08BV2 | tyw5 | tRNA wybutosine-synthesizing protein 5 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| A8E534 | kdm8 | Lysine-specific demethylase 8 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| Q6AXL5 | hspbap1 | HSPB1-associated protein 1 homolog | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAAGSEATTP | VIVAAGAGGE | EGEHVKPFKP | EKAKEIIMSL | QQPAIFCNMV | FDWPARHWNA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KYLSQVLHGK | QIRFRMGMKS | MSTVPQFETT | CNYVEATLEE | FLTWNCDQSS | ISGPFRDYDH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SKFWAYADYK | YFVSLFEDKT | DLFQDVKWSD | FGFPGRNGQE | STLWIGSLGA | HTPCHLDSYG |
| 190 | 200 | 210 | 220 | 230 | 240 |
| CNLVFQVQGR | KRWHLFPPED | TPFLYPTRIP | YEESSVFSKI | NVVNPDLKRF | PQFRKAQRHA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VTLSPGQVLF | VPRHWWHYVE | SIDPVTVSIN | SWIELEEDHL | ARVEEAITRM | LVCALKTAEN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PQNTRAWLNP | TEVEETSHAV | NCCYLNAAVS | AFFDRCRTSE | VVEIQALRTD | GEHMKKEELN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VCNHMEVGQT | GSQNLTTGTD | KPEAASPFGP | DLVPVAQRSE | EPPSERGGIF | GSDGKDFVDK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DGEHFGKLHC | AKRQQIMSNS | ENAIEEQIAS | NTTTTPQTFI | STDDLLDCLV | NPQVTRIVAQ |
| LLIQGRSL |