HSPA7

heat shock protein family A (Hsp70) member 7 (pseudogene), the group of Heat shock 70kDa proteins

Basic information

Region (hg38): 1:161606291-161608217

Links

ENSG00000225217

∙ NCBI:3311 ∙ OMIM:140556 ∙ HGNC:5240 ∙ Uniprot:P48741 ∙ 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 HSPA7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSPA7 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Pathway: Parkin-Ubiquitin Proteasomal System pathway;Regulation of HSF1-mediated heat shock response;Cellular responses to stress;Cellular responses to external stimuli;Cellular response to heat stress (Consensus)

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.231

Gene ontology

Biological process: response to unfolded protein;biological_process;cellular response to heat;cellular response to unfolded protein;protein refolding;chaperone cofactor-dependent protein refolding
Cellular component: nucleus;cytoplasm;cytosol;COP9 signalosome;protein-containing complex;extracellular exosome;blood microparticle
Molecular function: molecular_function;ATP binding;ATPase activity;heat shock protein binding;ATPase activity, coupled;protein folding chaperone;unfolded protein binding;misfolded protein binding