HSPB1 heat shock protein family B (small) member 1
Information
- Symbol
- HSPB1
- Type
- protein-coding
- Description
- heat shock protein family B (small) member 1
- Entrez Gene ID
- 3315
- Genome
- hg19
- Position
- chr7:75,931,990-75,933,609
- Genome
- hg38
- Position
- chr7:76,302,673-76,304,292
- MIM
- 602195 OMIM
- HGNC
- HGNC:5246 HGNC
- Ensembl
- ENSG00000106211 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 3 | 58 |
| Likely pathogenic | 0 | 42 |
| Benign | 0 | 42 |
| Likely benign | 0 | 196 |
| Conflicting classifications of pathogenicity | 0 | 54 |
| Uncertain significance | 0 | 342 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
140 |
 |
470 |
 |
20 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
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| Search word | : | |
| Filtering | : |
| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
Search Word
| Target data | : |
MGeND data only
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| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
|
| Category | : |
|
| Search word | : | |
| Filtering | : |
| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | CMT2F |
| SYNONYM | HEL-S-102 |
| SYNONYM | HMN2B |
| SYNONYM | HMND3 |
| SYNONYM | HS.76067 |
| SYNONYM | HSP27 |
| SYNONYM | HSP28 |
| SYNONYM | Hsp25 |
| SYNONYM | SRP27 |
| MIM | 602195 OMIM |
| HGNC | HGNC:5246 HGNC |
| Ensembl | ENSG00000106211 Ensembl |
| AllianceGenome | HGNC:5246 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000675226.1 | hg38 | chr7 | 76,302,673 | 76,304,292 | 1,620 |
| ENST00000674638.1 | hg38 | chr7 | 76,302,673 | 76,304,292 | 1,620 |
| ENST00000676231.1 | hg38 | chr7 | 76,302,673 | 76,304,292 | 1,620 |
| ENST00000674650.1 | hg38 | chr7 | 76,302,699 | 76,304,292 | 1,594 |
| ENST00000429938.1 | hg38 | chr7 | 76,303,577 | 76,304,295 | 719 |
| ENST00000674547.1 | hg38 | chr7 | 76,302,673 | 76,304,292 | 1,620 |
| ENST00000675134.1 | hg38 | chr7 | 76,302,673 | 76,304,292 | 1,620 |
| ENST00000675906.1 | hg38 | chr7 | 76,302,673 | 76,304,292 | 1,620 |
| ENST00000248553.7 | hg38 | chr7 | 76,302,673 | 76,304,292 | 1,620 |
| ENST00000675538.1 | hg38 | chr7 | 76,302,673 | 76,304,292 | 1,620 |
| ENST00000675226.1 | hg19 | chr7 | 75,931,990 | 75,933,609 | 1,620 |
| ENST00000429938.1 | hg19 | chr7 | 75,932,894 | 75,933,612 | 719 |
| ENST00000674650.1 | hg19 | chr7 | 75,932,016 | 75,933,609 | 1,594 |
| ENST00000675906.1 | hg19 | chr7 | 75,931,990 | 75,933,609 | 1,620 |
| ENST00000675134.1 | hg19 | chr7 | 75,931,990 | 75,933,609 | 1,620 |
| ENST00000676231.1 | hg19 | chr7 | 75,931,990 | 75,933,609 | 1,620 |
| ENST00000675538.1 | hg19 | chr7 | 75,931,990 | 75,933,609 | 1,620 |
| ENST00000674547.1 | hg19 | chr7 | 75,931,990 | 75,933,609 | 1,620 |
| ENST00000674638.1 | hg19 | chr7 | 75,931,990 | 75,933,609 | 1,620 |
| ENST00000248553.7 | hg19 | chr7 | 75,931,990 | 75,933,609 | 1,620 |
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