HSPB9

heat shock protein family B (small) member 9, the group of Small heat shock proteins

Basic information

Region (hg38): 17:42122804-42123352

Links

ENSG00000260325 ∙ NCBI:94086 ∙ OMIM:608344 ∙ HGNC:30589 ∙ Uniprot:Q9BQS6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the HSPB9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSPB9 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	14	0	0

Variants in HSPB9

This is a list of pathogenic ClinVar variants found in the HSPB9 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-42122856-G-C		not specified	Uncertain significance (Mar 07, 2023)
17-42122880-C-A		not specified	Uncertain significance (Mar 08, 2025)
17-42122906-C-A		not specified	Uncertain significance (Feb 27, 2023)
17-42122910-C-A		not specified	Uncertain significance (Sep 26, 2024)
17-42122936-T-A		not specified	Uncertain significance (Jan 02, 2024)
17-42122977-G-A		not specified	Uncertain significance (Apr 12, 2023)
17-42122999-C-A		not specified	Uncertain significance (Oct 29, 2021)
17-42123065-T-C		not specified	Uncertain significance (Dec 10, 2024)
17-42123088-A-C		not specified	Uncertain significance (Jan 07, 2022)
17-42123091-G-A		not specified	Uncertain significance (Jun 25, 2024)
17-42123131-G-C		not specified	Uncertain significance (Sep 02, 2024)
17-42123137-G-A		not specified	Uncertain significance (May 20, 2024)
17-42123230-T-C		not specified	Uncertain significance (Aug 17, 2021)
17-42123241-T-C		not specified	Uncertain significance (Jan 26, 2025)
17-42123251-T-C		not specified	Uncertain significance (Dec 02, 2022)
17-42123286-A-G		not specified	Uncertain significance (Dec 17, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.429
• rvis_EVS: 0.57
• rvis_percentile_EVS: 81.99

Haploinsufficiency Scores

• pHI: 0.124
• hipred: N
• hipred_score: 0.153

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0425

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hspb9

Gene ontology

• Cellular component: nucleus;cytoplasm
• Molecular function: protein binding