Q9UJY1
PR
Gene name |
HSPB8 (CRYAC, E2IG1, HSP22, PP1629) |
Protein name |
Heat shock protein beta-8 |
Names |
HspB8, Alpha-crystallin C chain, E2-induced gene 1 protein, Protein kinase H11, Small stress protein-like protein HSP22 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:26353 |
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 Q9UJY1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9UJY1-F1 | Predicted | AlphaFoldDB |
216 variants for Q9UJY1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA386523697 rs952834680 RCV000552364 |
3 | D>E | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001035067 CA6819479 rs762887808 |
4 | G>S | Charcot-Marie-Tooth disease axonal type 2L Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000687583 RCV002388208 RCV000763796 rs146900850 RCV001109055 CA6819480 RCV000761844 |
5 | Q>R | Charcot-Marie-Tooth disease axonal type 2L Neuronopathy, distal hereditary motor, type 2A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6819481 rs774233360 RCV000856938 |
9 | S>P | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1954619848 RCV001202966 |
15 | R>C | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinVar dbSNP |
|
CA386523933 RCV001221792 rs1256697965 |
16 | L>R | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs200120006 RCV001318874 CA6819486 |
17 | R>C | Charcot-Marie-Tooth disease axonal type 2L Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA6819487 RCV002570916 COSM106409 rs146997263 |
17 | R>H | Charcot-Marie-Tooth disease axonal type 2L Variant assessed as Somatic; 0.0 impact. skin [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1739962 COSM1739963 RCV000705796 CA6819490 rs747381453 |
22 | R>Q | Charcot-Marie-Tooth disease axonal type 2L haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs748320300 CA6819493 RCV001214200 |
29 | R>C | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001064304 CA6819494 RCV001171897 rs748320300 |
29 | R>S | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6819498 RCV002451256 rs141871482 RCV001060278 |
38 | D>E | Charcot-Marie-Tooth disease axonal type 2L Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6819500 rs771827550 RCV002516327 RCV000230666 |
39 | P>L | Charcot-Marie-Tooth disease axonal type 2L Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1954622196 RCV001051384 |
43 | D>N | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001760230 rs1954622275 RCV001230956 |
46 | A>D | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinVar dbSNP |
|
CA386524493 RCV001001020 RCV001223553 rs1183371665 |
47 | S>C | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002395697 CA6819508 rs374254847 RCV001320561 |
50 | D>V | Charcot-Marie-Tooth disease axonal type 2L Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA244334734 RCV001109057 rs1011669872 RCV001109056 RCV002264185 RCV003163255 |
55 | R>C | Charcot-Marie-Tooth disease axonal type 2L Neuronopathy, distal hereditary motor, type 2A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs752911264 CA6819510 RCV002397397 RCV000691399 |
55 | R>H | Charcot-Marie-Tooth disease axonal type 2L Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1954622635 RCV001247442 |
62 | G>missing | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001312815 CA6819514 rs771054805 |
63 | T>I | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1265247622 CA386525320 RCV000693910 |
65 | R>K | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA6819517 RCV000795680 rs771852827 |
67 | G>V | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA244334824 RCV002422619 rs924785682 RCV000709925 RCV001824871 |
70 | P>S | Charcot-Marie-Tooth disease axonal type 2L Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs977617023 CA244334835 RCV001243975 |
71 | R>W | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs752044307 CA6819524 RCV001248317 RCV002451616 |
77 | A>T | Charcot-Marie-Tooth disease axonal type 2L Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs55826713 VAR_042245 RCV002450978 RCV001289004 RCV000425249 RCV001086157 RCV001111397 CA6819525 |
78 | R>M | Charcot-Marie-Tooth disease axonal type 2L Neuronopathy, distal hereditary motor, type 2A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA244334872 RCV001203699 rs767880226 |
81 | V>M | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6819531 COSM458256 RCV000809617 COSM1134434 rs757293016 |
84 | E>K | lung Charcot-Marie-Tooth disease axonal type 2L cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000792656 rs35909818 CA386525627 |
89 | P>L | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6819539 RCV000538374 rs35909818 |
89 | P>Q | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000550983 RCV000992176 RCV002429260 CA6819538 RCV000362374 rs35909818 |
89 | P>R | Charcot-Marie-Tooth disease axonal type 2L Neuronopathy, distal hereditary motor, type 2A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001203443 rs773017653 RCV000992175 |
90 | P>missing | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565927080 RCV000678499 VAR_078133 CA386525634 |
90 | P>L | Neuronopathy, distal hereditary motor, type 2A HMN2A; no effect on cytoskeleton architecture; no effect on cytoplasmic location; no effect on interaction with BAG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001070642 rs769296712 CA6819541 RCV002436687 |
94 | E>K | Charcot-Marie-Tooth disease axonal type 2L Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1036182864 RCV001225710 CA244334998 |
104 | S>N | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA337226 RCV000197470 rs146000958 |
107 | P>S | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001243225 rs1954624384 |
111 | M>* | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001328755 rs917644809 |
135 | V>L | Neuronopathy, distal hereditary motor, type 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000678500 CA386529514 rs1565929080 VAR_078134 |
138 | N>T | Neuronopathy, distal hereditary motor, type 2A HMN2A; no effect on cytoskeleton architecture; no effect on cytoplasmic location; no effect on interaction with BAG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs104894351 CA115644 RCV000002736 VAR_018504 RCV001216811 RCV001532719 |
141 | K>E | Charcot-Marie-Tooth disease axonal type 2L Neuronopathy, distal hereditary motor, type 2A HMN2A; strengthen interaction with HSPB1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA386529568 VAR_078135 RCV000678501 rs1565929090 |
141 | K>M | Charcot-Marie-Tooth disease axonal type 2L HMN2A; no effect on cytoskeleton architecture; no effect on cytoplasmic location; increased interaction with BAG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA252366 RCV000002735 rs104894345 VAR_018505 RCV002472922 RCV000002737 RCV000192250 CA115642 |
141 | K>N | Neuronopathy, distal hereditary motor, type 2A Charcot-Marie-Tooth disease axonal type 2L Charcot-Marie-Tooth disease HMN2A; strengthen interaction with HSPB1; no effect on cytoskeleton architecture; no effect on cytoplasmic location; increased interaction with BAG3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
CA386529554 RCV000691975 rs104894351 |
141 | K>Q | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA386529565 rs1565929090 RCV000789966 |
141 | K>T | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA386531738 RCV000688377 rs1565930539 |
146 | P>R | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001304082 rs1954726459 |
154 | V>A | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinVar dbSNP |
|
rs144662422 CA6819614 RCV000810627 |
158 | L>F | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001696830 rs148514935 RCV000640163 RCV002497022 RCV002341224 CA6819617 RCV001113402 |
167 | E>K | Charcot-Marie-Tooth disease axonal type 2L Neuronopathy, distal hereditary motor, type 2A Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3764378 CA386532292 rs1592932884 RCV000816651 |
168 | A>T | Charcot-Marie-Tooth disease axonal type 2L central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs373049356 RCV000761845 RCV001086445 CA6819618 |
168 | A>V | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1592932892 RCV000856939 CA386532316 |
169 | P>L | Charcot-Marie-Tooth disease [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000507953 RCV000233467 CA10582961 rs878854979 |
171 | V>A | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001217241 rs1954727159 |
172 | P>missing | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1954727159 RCV001267528 |
173 | P>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1565930588 RCV000708586 |
174 | Y>missing | Distal myopathy [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002334246 RCV000685048 rs1000728639 CA386532475 |
175 | S>A | Charcot-Marie-Tooth disease axonal type 2L Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1592932914 RCV001058403 |
176 | T>A | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinVar dbSNP |
|
CA339046 RCV000200015 rs863224767 |
179 | E>G | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA6819624 RCV000615976 rs74740454 RCV000292198 RCV000539450 RCV002487366 |
179 | E>Q | Charcot-Marie-Tooth disease axonal type 2L Neuronopathy, distal hereditary motor, type 2A [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000697443 rs760688825 CA244345300 |
181 | S>C | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001473178 rs774648716 CA6819627 RCV002529985 |
185 | E>K | Charcot-Marie-Tooth disease axonal type 2L Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001225961 rs1954727649 RCV002348761 |
186 | L>F | Charcot-Marie-Tooth disease axonal type 2L Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001254712 rs1954727678 |
188 | Q>missing | Neuronopathy, distal hereditary motor, type 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000707026 CA244345330 RCV001766564 rs551013013 |
190 | S>R | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001249293 rs1954727878 |
194 | T>missing | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinVar dbSNP |
|
rs771995241 RCV000640160 CA6819629 |
194 | T>S | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA244345357 RCV000702143 rs778223243 |
195 | C>Y | Charcot-Marie-Tooth disease axonal type 2L [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA6819478 rs377690814 |
2 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1172676336 CA386523707 |
4 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1172676336 CA386523706 |
4 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs762887808 CA244334562 |
4 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244334576 rs1015406788 |
6 | M>I | No |
ClinGen TOPMed |
|
|
CA244334572 rs530083542 |
6 | M>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA244334580 rs200874667 |
8 | F>S | No |
ClinGen Ensembl |
|
|
CA386523837 rs1400986742 |
9 | S>F | No |
ClinGen gnomAD |
|
|
rs759289686 RCV000214357 CA6819482 |
11 | H>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1375501110 CA386523886 |
13 | P>S | No |
ClinGen TOPMed |
|
|
CA6819483 rs767174743 |
14 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs752348447 CA6819484 |
15 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA6819488 rs759005659 |
18 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1198430829 CA386523947 |
18 | R>Q | No |
ClinGen gnomAD |
|
|
rs1592927349 CA386523958 |
19 | D>A | No |
ClinGen Ensembl |
|
|
CA386524001 rs747381453 |
22 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747381453 CA386523998 |
22 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6819489 rs780751241 |
22 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs755359241 CA6819491 |
23 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6819492 rs781475312 |
24 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1363010117 CA386524041 |
26 | L>F | No |
ClinGen gnomAD |
|
|
CA386524040 rs1363010117 |
26 | L>V | No |
ClinGen gnomAD |
|
|
rs1343984954 CA386524092 COSM288279 |
29 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1388785923 CA386524131 |
30 | L>Q | No |
ClinGen gnomAD |
|
|
CA244334676 rs907098896 |
32 | D>A | No |
ClinGen TOPMed |
|
|
rs1220794443 CA386524259 |
36 | G>D | No |
ClinGen TOPMed |
|
| TCGA novel | 37 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1002901893 CA244334680 |
37 | M>L | No |
ClinGen TOPMed |
|
|
CA386524295 rs1592927381 |
38 | D>A | No |
ClinGen Ensembl |
|
|
rs759360759 CA6819499 |
39 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244334707 rs920906527 |
41 | P>S | No |
ClinGen TOPMed |
|
|
CA6819504 rs763658767 |
42 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760427734 CA6819502 RCV000518575 |
42 | D>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA6819505 rs761462898 |
43 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386524456 rs1249375553 |
45 | T>I | No |
ClinGen gnomAD |
|
|
CA386524483 rs1592927400 |
47 | S>P | No |
ClinGen Ensembl |
|
|
rs752076364 CA6819507 |
50 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 50 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555222569 RCV000523232 CA386524616 |
52 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6819509 rs370497153 |
53 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1396053299 CA386524643 |
56 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA244334746 rs967983268 |
59 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs778009981 CA6819512 |
59 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6819513 rs749346498 |
60 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs945131030 CA244334761 |
64 | L>V | No |
ClinGen Ensembl |
|
|
rs1265247622 CA386525322 |
65 | R>T | No |
ClinGen TOPMed |
|
|
rs140173724 CA6819516 |
66 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| VAR_042244 | 67 | G>S | a glioblastoma multiforme sample; somatic mutation [UniProt] | No | UniProt |
|
rs1283385837 CA386525372 |
68 | M>I | No |
ClinGen TOPMed |
|
|
rs1238299634 CA386525359 |
68 | M>V | No |
ClinGen gnomAD |
|
|
CA6819518 rs775180131 |
69 | V>A | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel CA6819519 rs775180131 |
69 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs1312255584 CA386525413 |
71 | R>Q | No |
ClinGen TOPMed |
|
|
rs768405176 CA6819520 |
72 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA386525427 rs768405176 |
72 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1277387857 CA386525445 |
73 | P>H | No |
ClinGen TOPMed |
|
|
CA6819522 rs547024896 |
75 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547024896 CA386525481 |
75 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386525491 rs1342872080 |
76 | T>I | No |
ClinGen TOPMed |
|
|
RCV000992174 rs752044307 CA386525495 COSM3792236 COSM3792237 |
77 | A>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA386525503 rs1565927053 |
78 | R>S | No |
ClinGen Ensembl |
|
|
rs1592927481 CA386525510 |
79 | F>C | No |
ClinGen Ensembl |
|
|
CA386525522 rs1466796046 |
81 | V>A | No |
ClinGen TOPMed |
|
|
CA6819526 rs767880226 |
81 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6819528 rs756519750 |
82 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6819529 rs777957355 |
83 | A>S | No |
ClinGen ExAC |
|
|
CA6819530 rs754124731 |
83 | A>V | No |
ClinGen ExAC |
|
|
rs757293016 CA386525548 |
84 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294621759 CA386525603 |
87 | T>I | No |
ClinGen gnomAD |
|
|
rs1294621759 CA386525599 |
87 | T>N | No |
ClinGen gnomAD |
|
|
rs745780308 CA6819534 |
87 | T>S | No |
ClinGen ExAC |
|
|
rs200183897 CA6819536 |
88 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs888514749 CA244334942 |
89 | P>S | No |
ClinGen gnomAD |
|
|
rs888514749 CA386525620 |
89 | P>T | No |
ClinGen gnomAD |
|
|
rs1484540014 CA386525630 |
90 | P>A | No |
ClinGen gnomAD |
|
| rs773017653 | 90 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386525645 rs1592927524 |
91 | F>V | No |
ClinGen Ensembl |
|
|
CA386525656 rs1261528779 |
92 | P>S | No |
ClinGen gnomAD |
|
|
CA386525666 rs1427091362 |
93 | G>E | No |
ClinGen gnomAD |
|
|
rs1174395251 CA386525747 |
97 | K>E | No |
ClinGen gnomAD |
|
|
rs772625718 CA6819542 |
98 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA386525821 rs1319428068 |
100 | V>M | No |
ClinGen TOPMed |
|
|
rs1288196735 CA386525857 |
102 | V>M | No |
ClinGen gnomAD |
|
|
rs906998876 CA244335003 |
106 | K>R | No |
ClinGen TOPMed |
|
|
rs146000958 CA6819543 |
107 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386526034 rs1322424710 |
108 | E>G | No |
ClinGen gnomAD |
|
|
CA386526089 rs1221256717 |
110 | L>F | Variant assessed as Somatic; 4.907e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761021641 CA6819545 |
114 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1296481523 CA386526256 |
116 | D>E | No |
ClinGen gnomAD |
|
|
CA386526355 rs1487554004 |
119 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386526351 rs1487554004 |
119 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1264286762 CA386526372 |
120 | E>Q | No |
ClinGen gnomAD |
|
|
rs1427416227 CA386526472 |
122 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6819548 rs757453658 |
122 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758347523 CA6819571 |
123 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA244339916 rs138733926 |
125 | H>R | No |
ClinGen ESP |
|
|
CA6819573 rs372596104 |
130 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6819574 rs754993844 |
131 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1236479906 CA386529371 |
132 | G>D | No |
ClinGen gnomAD |
|
|
rs1179250162 CA386529386 |
133 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 134 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592930644 CA386529415 |
134 | I>V | No |
ClinGen Ensembl |
|
|
CA244339948 rs917644809 |
135 | V>I | No |
ClinGen Ensembl |
|
|
RCV000236249 rs879254194 CA10584402 |
138 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 138 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001169894 rs1954680920 |
140 | T>I | No |
ClinVar dbSNP |
|
|
rs755994854 CA6819578 |
144 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 146 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA244345144 rs868653694 |
146 | P>S | No |
ClinGen Ensembl |
|
|
CA244345147 rs891217764 |
147 | A>E | No |
ClinGen Ensembl |
|
|
rs1463622153 CA386531747 |
147 | A>T | No |
ClinGen TOPMed |
|
|
CA6819607 rs773660512 |
148 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1446288467 CA386531799 |
149 | V>A | No |
ClinGen gnomAD |
|
|
rs771254227 CA6819609 |
150 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA6819610 rs774767632 |
151 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767709619 CA6819612 COSM3954266 |
153 | T>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1304880768 CA386531916 |
153 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752517886 CA6819613 |
156 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA244345193 rs865978100 |
159 | S>F | No |
ClinGen TOPMed |
|
|
CA386532126 rs1403551142 |
160 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386532175 rs763980623 |
162 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6819615 rs763980623 |
162 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386532177 rs763980623 |
162 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6819616 rs529515227 |
163 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA244345215 rs970226069 |
164 | L>M | No |
ClinGen TOPMed |
|
|
CA386532229 rs1275572918 |
166 | I>F | No |
ClinGen TOPMed |
|
|
CA386532257 rs1300830983 |
166 | I>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 167 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 170 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386532348 rs1374318115 |
170 | Q>H | No |
ClinGen TOPMed |
|
|
CA386532338 rs1337129399 |
170 | Q>P | No |
ClinGen gnomAD |
|
|
CA6819620 rs757849883 |
173 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757849883 CA244345260 |
173 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6819621 rs779640929 |
174 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1287950210 CA386532466 |
174 | Y>C | No |
ClinGen gnomAD |
|
|
CA6819622 rs748565700 |
175 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1000728639 CA244345270 |
175 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1592932914 CA386532498 |
176 | T>P | No |
ClinGen Ensembl |
|
|
CA386532528 rs1434480211 |
177 | F>S | No |
ClinGen gnomAD |
|
|
rs749653259 CA6819625 COSM1161035 |
180 | S>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs746101893 CA6819628 |
187 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1293235116 CA386532852 |
189 | D>G | No |
ClinGen gnomAD |
|
|
rs1592932952 CA386532878 |
190 | S>N | No |
ClinGen Ensembl |
|
|
rs1388864824 CA386532865 |
190 | S>R | No |
ClinGen gnomAD |
|
|
CA6819630 rs771995241 |
194 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6819631 rs760718525 |
194 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs36008907 CA244345362 |
195 | C>* | No |
ClinGen Ensembl |
|
|
CA386534031 rs1214814585 |
195 | C>R | No |
ClinGen TOPMed |
No associated diseases with Q9UJY1
3 regional properties for Q9UJY1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | 14-3-3 protein, conserved site | 45 - 55 | IPR023409-1 |
| conserved_site | 14-3-3 protein, conserved site | 217 - 236 | IPR023409-2 |
| domain | 14-3-3 domain | 7 - 248 | IPR023410 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chaperone complex | A protein complex required for the non-covalent folding or unfolding, maturation, stabilization or assembly or disassembly of macromolecular structures. Usually active during or immediately after completion of translation. Many chaperone complexes contain heat shock proteins. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to unfolded protein | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an unfolded protein stimulus. |
| positive regulation of aggrephagy | Any process that activates or increases the frequency, rate or extent of aggrephagy. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8MJ36 | HSPB8 | Heat shock protein beta-8 | Canis lupus familiaris (Dog) (Canis familiaris) | PR |
| P02518 | Hsp27 | Heat shock protein 27 | Drosophila melanogaster (Fruit fly) | PR |
| P02511 | CRYAB | Alpha-crystallin B chain | Homo sapiens (Human) | PR |
| Q9JK92 | Hspb8 | Heat shock protein beta-8 | Mus musculus (Mouse) | PR |
| Q9EPX0 | Hspb8 | Heat shock protein beta-8 | Rattus norvegicus (Rat) | PR |
| Q20363 | sip-1 | Stress-induced protein 1 | Caenorhabditis elegans | PR |
| Q9XIE3 | HSP17.6A | 17.6 kDa class I heat shock protein 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P19037 | HSP18.1 | 18.1 kDa class I heat shock protein | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38806 | HSP22.0 | 22.0 kDa heat shock protein | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O49710 | HSP15.4 | 15.4 kDa class V heat shock protein | Arabidopsis thaliana (Mouse-ear cress) | PR |
| O64564 | HSP18.5 | 18.5 kDa class IV heat shock protein | Arabidopsis thaliana (Mouse-ear cress) | PR |
| A5JV83 | hspb11 | Heat shock protein beta-11 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADGQMPFSC | HYPSRLRRDP | FRDSPLSSRL | LDDGFGMDPF | PDDLTASWPD | WALPRLSSAW |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PGTLRSGMVP | RGPTATARFG | VPAEGRTPPP | FPGEPWKVCV | NVHSFKPEEL | MVKTKDGYVE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSGKHEEKQQ | EGGIVSKNFT | KKIQLPAEVD | PVTVFASLSP | EGLLIIEAPQ | VPPYSTFGES |
| 190 | |||||
| SFNNELPQDS | QEVTCT |