CT45A3

cancer/testis antigen family 45 member A3, the group of CT antigen family 45

Basic information

Region (hg38): X:135759846-135768191

Previous symbols: [ "CT45A4" ]

Links

ENSG00000269096

∙ NCBI:441519 ∙ OMIM:300794 ∙ HGNC:33268 ∙ Uniprot:Q8NHU0 ∙ 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 CT45A3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CT45A3 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			2 clinvar	1 clinvar		3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	1	0

Variants in CT45A3

This is a list of pathogenic ClinVar variants found in the CT45A3 region.

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

Position	Phenotype	Significance	ClinVar
X-135764277-C-G	not specified	Likely benign (Oct 06, 2021)	2343109
X-135764291-T-C	not specified	Uncertain significance (Feb 28, 2024)	3078472
X-135764407-T-G	not specified	Uncertain significance (Feb 03, 2022)	2215244

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis: 0.399

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0000904

Gene ontology

Biological process: snRNA 3'-end processing
Cellular component: integrator complex
Molecular function: protein binding