CHTF8

chromosome transmission fidelity factor 8

Basic information

Region (hg38): 16:69118010-69132588

Links

ENSG00000168802 ∙ NCBI:54921 ∙ OMIM:613202 ∙ HGNC:24353 ∙ Uniprot:P0CG13 ∙ 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 CHTF8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CHTF8 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				2		2
Total	0	0	9	2	0

Variants in CHTF8

This is a list of pathogenic ClinVar variants found in the CHTF8 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-69119240-T-G			Likely benign (Feb 01, 2023)
16-69119610-G-A			Likely benign (Apr 01, 2022)
16-69120466-G-A		not specified	Uncertain significance (Jun 09, 2022)
16-69120471-T-G		not specified	Uncertain significance (May 29, 2024)
16-69120514-G-A		not specified	Uncertain significance (Dec 02, 2022)
16-69120528-C-T		not specified	Uncertain significance (Dec 17, 2021)
16-69120529-G-T		not specified	Uncertain significance (Sep 01, 2021)
16-69120590-C-G		not specified	Uncertain significance (Nov 03, 2023)
16-69120613-A-G		not specified	Uncertain significance (Jan 20, 2023)
16-69121096-C-T		not specified	Uncertain significance (Jan 23, 2024)
16-69121109-G-A		not specified	Uncertain significance (Nov 30, 2022)
16-69121111-G-A		not specified	Uncertain significance (Nov 30, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CHTF8	protein_coding	protein_coding	ENST00000448552	3	14575

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.373	0.584	124789	0	5	124794	0.0000200

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.291	65	72.0	0.903	0.00000419	772
Missense in Polyphen		17	26.234	0.648		320
Synonymous	0.333	27	29.3	0.922	0.00000164	260
Loss of Function	1.60	1	4.76	0.210	2.01e-7	59

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000159	0.000158
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000556	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.00000895	0.00000883
Middle Eastern	0.0000556	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potential tumor suppressor. Inhibits prostate tumor cell growth, when overexpressed. {ECO:0000269|PubMed:12477976}.
• Pathway: Gastric Cancer Network 2 (Consensus)

Intolerance Scores

• loftool: 0.389
• rvis_EVS: -0.12
• rvis_percentile_EVS: 44.54

Haploinsufficiency Scores

• hipred: Y
• hipred_score: 0.683
• ghis: 0.542

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.838

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Chtf8

Gene ontology

• Biological process: mitotic sister chromatid cohesion
• Cellular component: nucleoplasm;Ctf18 RFC-like complex;extracellular exosome