HSPBAP1

protein-coding

HSPB1 associated protein 1, the group of Iron (II) and 2-oxoglutarate dependent oxygenases

Gene summary

This gene encodes a protein that binds to one of the small heat shock proteins, specifically hsp27. Hsp27 is involved with cell growth and differentiation. This encoded protein was found to be abnormally expressed in patients with intractable epilepsy, although how brain function is affected remains unknown. [provided by RefSeq, Sep 2011]

MANE transcript

NM_024610.6

Inheritance

—

ClinVar variants

U:61B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.78

Max pathogenic AF

—

Genomic locus

chr3:122,739,999-122,793,831

External References & Databases

Ensembl (ENSG00000169087)

Transcript & Mutation Effects

hg38 • Region Span ~53.8 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to HSPBAP1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 61

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024610.6. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	2 clinvar		5
missense			56 clinvar	4 clinvar		60
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	61	6	0	67

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 38 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024610.6	RefSeq	NP_078886.2	8	MANE Select
ENST00000306103.3	Ensembl	ENSP00000302562.2	8	MANE Select
NM_001320728.2	RefSeq	NP_001307657.1	7	Standard
ENST00000877414.1	Ensembl	ENSP00000547473.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
2-oxoglutarate-dependent dioxygenase activity

Cellular Component

cytoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000306103
Coding exons: 8
Length: 53826
Individuals with no LoFs: 125680
Homozygous LoFs: 0
Heterozygous LoFs: 68
Defined: 125748
p: 0.000270

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.31	199	258	0.770	0.0000131	3233
Missense (PolyPhen)		63	87.125	0.7231		1129
Synonymous	0.592	86	93.3	0.922	0.00000507	902
Loss of Function	1.02	19	24.5	0.777	0.00000132	275

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00018	0.00018	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00011	0.00011	rare
Finnish	0.0014	0.0014	notable
European (Non-Finnish)	0.00020	0.00019	rare
South Asian	0.00020	0.00020	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in cellular stress response. {ECO:0000250}.;

Recessive Scores

pRec: 0.0863

Intolerance Scores

LoFtool: 0.790
RVIS EVS: 0.51
RVIS percentile EVS: 80.2

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.873

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium