CHTF18

chromosome transmission fidelity factor 18, the group of AAA ATPases

Basic information

Region (hg38): 16:788046-800737

Previous symbols: [ "C16orf41" ]

Links

ENSG00000127586 ∙ NCBI:63922 ∙ OMIM:613201 ∙ HGNC:18435 ∙ Uniprot:Q8WVB6 ∙ 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 CHTF18 gene.

• not_specified (281 variants)
• not_provided (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CHTF18 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000022092.3. 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				3	6	9
missense			267	16	4	287
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	267	19	10

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CHTF18	protein_coding	protein_coding	ENST00000262315	22	12692

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.07e-28	0.000789	124136	0	139	124275	0.000559

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.79	895	628	1.43	0.0000451	6059
Missense in Polyphen		252	196.49	1.2825		1908
Synonymous	-8.93	457	270	1.69	0.0000190	2045
Loss of Function	0.617	45	49.7	0.906	0.00000293	488

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00102	0.000962
Ashkenazi Jewish	0.000105	0.0000998
East Asian	0.00210	0.00201
Finnish	0.000202	0.000186
European (Non-Finnish)	0.000517	0.000490
Middle Eastern	0.00210	0.00201
South Asian	0.000598	0.000556
Other	0.000348	0.000331

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Chromosome cohesion factor involved in sister chromatid cohesion and fidelity of chromosome transmission. Component of one of the cell nuclear antigen loader complexes, CTF18-replication factor C (CTF18-RFC), which consists of CTF18, CTF8, DCC1, RFC2, RFC3, RFC4 and RFC5. The CTF18-RFC complex binds to single- stranded and primed DNAs and has weak ATPase activity that is stimulated by the presence of primed DNA, replication protein A (RPA) and by proliferating cell nuclear antigen (PCNA). The CTF18- RFC complex catalyzes the ATP-dependent loading of PCNA onto primed and gapped DNA. It also interacts with and stimulates DNA polymerase POLH. {ECO:0000269|PubMed:12766176, ECO:0000269|PubMed:12930902, ECO:0000269|PubMed:17545166}.
• Pathway: Gastric Cancer Network 2 (Consensus)

Recessive Scores

• pRec: 0.255

Intolerance Scores

• rvis_EVS: 1.08
• rvis_percentile_EVS: 91.73

Haploinsufficiency Scores

• pHI: 0.947
• ghis: 0.503

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.747

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Chtf18
• Phenotype: growth/size/body region phenotype; endocrine/exocrine gland phenotype; cellular phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: DNA replication;cell cycle;positive regulation of DNA-directed DNA polymerase activity
• Cellular component: nucleoplasm;cytosol;membrane;Ctf18 RFC-like complex
• Molecular function: DNA clamp loader activity;protein binding;ATP binding;single-stranded DNA-dependent ATPase activity