HSPA14

heat shock protein family A (Hsp70) member 14, the group of Heat shock 70kDa proteins

Basic information

Region (hg38): 10:14838305-14871741

Links

ENSG00000187522 ∙ NCBI:51182 ∙ OMIM:610369 ∙ HGNC:29526 ∙ Uniprot:Q0VDF9 ∙ 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 HSPA14 gene.

• Inborn genetic diseases (16 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSPA14 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					1	1
missense			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	16	0	1

Variants in HSPA14

This is a list of pathogenic ClinVar variants found in the HSPA14 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-14838451-G-C		not specified	Uncertain significance (Feb 05, 2024)
10-14839935-G-A		not specified	Uncertain significance (Aug 12, 2022)
10-14848601-A-G			Likely benign (Aug 05, 2018)
10-14848619-C-A		not specified	Uncertain significance (Jan 09, 2024)
10-14848640-G-A		not specified	Likely benign (Oct 03, 2023)
10-14848656-T-C		not specified	Uncertain significance (Jan 08, 2024)
10-14849745-C-T		not specified	Uncertain significance (Nov 27, 2023)
10-14849751-C-G		not specified	Uncertain significance (Dec 02, 2021)
10-14849795-C-A		not specified	Uncertain significance (Feb 27, 2024)
10-14851310-C-G		not specified	Uncertain significance (Jan 23, 2023)
10-14852392-G-C		not specified	Uncertain significance (Dec 05, 2022)
10-14852420-T-C		not specified	Uncertain significance (Dec 19, 2022)
10-14852455-A-G		not specified	Uncertain significance (Jan 04, 2022)
10-14855924-C-T		not specified	Uncertain significance (Oct 12, 2021)
10-14855930-A-T		not specified	Uncertain significance (Dec 06, 2022)
10-14867132-T-C		not specified	Uncertain significance (Jan 04, 2024)
10-14867207-T-C		not specified	Uncertain significance (Apr 07, 2023)
10-14867212-G-T		not specified	Uncertain significance (Oct 26, 2021)
10-14867244-G-C		not specified	Uncertain significance (Jun 22, 2021)
10-14867256-T-C			Benign (Jun 22, 2018)
10-14867266-G-C		not specified	Uncertain significance (Jul 12, 2022)
10-14867739-G-C		not specified	Uncertain significance (Jun 28, 2022)
10-14867803-G-A		not specified	Uncertain significance (Mar 31, 2023)
10-14867807-A-C		not specified	Uncertain significance (Aug 11, 2022)
10-14867895-A-G		not specified	Uncertain significance (May 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
HSPA14	protein_coding	protein_coding	ENST00000378372	14	33578

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.674	0.326	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.17	212	266	0.798	0.0000131	3270
Missense in Polyphen		79	122.85	0.64304		1438
Synonymous	-0.492	105	98.8	1.06	0.00000527	1006
Loss of Function	4.05	6	29.9	0.200	0.00000174	360

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000331	0.000331
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000571	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000461	0.0000439
Middle Eastern	0.0000571	0.0000544
South Asian	0.0000681	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the ribosome-associated complex (RAC), a complex involved in folding or maintaining nascent polypeptides in a folding-competent state. In the RAC complex, binds to the nascent polypeptide chain, while DNAJC2 stimulates its ATPase activity. {ECO:0000269|PubMed:16002468}.
• 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)

Recessive Scores

• pRec: 0.131

Intolerance Scores

• loftool: 0.539
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.19

Haploinsufficiency Scores

• pHI: 0.347
• hipred: Y
• hipred_score: 0.591
• ghis: 0.658

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.653

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hspa14

Gene ontology

• Biological process: cytoplasmic translation;regulation of translational fidelity;response to unfolded protein;cellular response to heat;cellular response to unfolded protein;protein refolding;'de novo' cotranslational protein folding;chaperone cofactor-dependent protein refolding
• Cellular component: cytoplasm;cytosol;ribosome;polysome;membrane
• Molecular function: protein binding;ATP binding;ATPase activity;heat shock protein binding;ATPase activity, coupled;protein folding chaperone;unfolded protein binding;misfolded protein binding