CT47A1

protein-coding

cancer/testis antigen family 47 member A1, the group of CT antigen family 47

Gene summary

This locus represents a member of the cancer/testis gene family 47. This family, also known as CT47, is comprised of 13 nearly identical loci clustered at Xq24. This locus is the most telomeric of the cluster.[provided by RefSeq, Sep 2010]

MANE transcript

NM_001080146.3

Inheritance

—

ClinVar variants

U:1

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chrX:120,982,476-120,985,760

External References & Databases

Ensembl (ENSG00000236371)

Transcript & Mutation Effects

hg38 • Region Span ~3.3 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CT47A1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001080146.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	1	0	0	1

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080146.3	RefSeq	NP_001073615.1	2	MANE Select
ENST00000433030.4	Ensembl	ENSP00000393315.1	2	MANE Select

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114