ST13

ST13 Hsp70 interacting protein, the group of Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 22:40824535-40856639

Links

ENSG00000100380 ∙ NCBI:6767 ∙ OMIM:606796 ∙ HGNC:11343 ∙ Uniprot:P50502 ∙ 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 ST13 gene.

• not_specified (38 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ST13 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003932.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			36	2	1	39
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	36	2	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ST13	protein_coding	protein_coding	ENST00000216218	12	32488

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.661	0.339	125743	0	5	125748	0.0000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.947	166	204	0.813	0.0000102	2438
Missense in Polyphen		22	38.042	0.57831		548
Synonymous	-0.254	68	65.4	1.04	0.00000335	647
Loss of Function	3.75	5	25.4	0.197	0.00000148	284

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000663	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000177	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.0000654	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: One HIP oligomer binds the ATPase domains of at least two HSC70 molecules dependent on activation of the HSC70 ATPase by HSP40. Stabilizes the ADP state of HSC70 that has a high affinity for substrate protein. Through its own chaperone activity, it may contribute to the interaction of HSC70 with various target proteins (By similarity). {ECO:0000250}.
• Pathway: Glucocorticoid Pathway (Peripheral Tissue), Pharmacodynamics;ifn alpha signaling 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: 0.296

Intolerance Scores

• loftool: 0.366
• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.12

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.762
• ghis: 0.503

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.834

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: St13

Gene ontology

• Biological process: protein folding;response to bacterium;chaperone cofactor-dependent protein refolding;protein homotetramerization;negative regulation of protein refolding
• Cellular component: cytoplasm;cytosol;protein-containing complex;extracellular exosome
• Molecular function: protein binding;protein domain specific binding;Hsp70 protein binding;protein binding, bridging;dATP binding;identical protein binding;protein-containing complex binding;protein dimerization activity;unfolded protein binding;chaperone binding