TSACC

TSSK6 activating cochaperone

Basic information

Region (hg38): 1:156337313-156346995

Previous symbols: [ "C1orf182" ]

Links

ENSG00000163467 ∙ NCBI:128229 ∙ OMIM:619679 ∙ HGNC:30636 ∙ Uniprot:Q96A04 ∙ 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 TSACC gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSACC 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			5		1	6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	1

Variants in TSACC

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

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

Position	Type	Phenotype	Significance	ClinVar
1-156338175-G-A		not specified	Uncertain significance (Jun 05, 2024)
1-156339764-C-T		not specified	Uncertain significance (Mar 25, 2024)
1-156339789-A-G		not specified	Uncertain significance (Dec 19, 2022)
1-156344589-A-C		not specified	Uncertain significance (Jan 10, 2022)
1-156344592-A-T		not specified	Uncertain significance (Jan 05, 2022)
1-156344630-T-G		not specified	Uncertain significance (Jun 22, 2021)
1-156344676-T-G		not specified	Uncertain significance (Dec 21, 2023)
1-156346768-T-C		not specified	Uncertain significance (Jun 05, 2024)
1-156346776-A-G		not specified	Uncertain significance (Jun 11, 2024)
1-156346854-A-C		not specified	Uncertain significance (Jun 04, 2024)
1-156346888-C-T			Benign (May 08, 2017)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TSACC	protein_coding	protein_coding	ENST00000368255	3	9682

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0179	0.739	125735	0	12	125747	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.403	55	64.1	0.858	0.00000297	806
Missense in Polyphen		18	18.268	0.98535		232
Synonymous	1.59	15	25.2	0.596	0.00000115	248
Loss of Function	0.774	3	4.84	0.620	2.06e-7	58

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000579	0.000579
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Co-chaperone that facilitates HSP-mediated activation of TSSK6. {ECO:0000269|PubMed:20829357}.

Recessive Scores

• pRec: 0.0945

Intolerance Scores

• rvis_EVS: 0.64
• rvis_percentile_EVS: 83.63

Haploinsufficiency Scores

• pHI: 0.128
• hipred: N
• hipred_score: 0.184

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tsacc

Gene ontology

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