TEX13A

protein-coding

testis expressed 13A, the group of Zinc fingers RANBP2-type

Gene summary

This gene is similar to a mouse gene that is expressed in the testis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

MANE transcript

NM_031274.5

Inheritance

—

ClinVar variants

U:33B:8

Top phenotype

—

Max pathogenic AF

—

Genomic locus

chrX:105,218,929-105,220,694

External References & Databases

Ensembl (ENSG00000268629)

Transcript & Mutation Effects

hg38 • Region Span ~1.8 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 TEX13A variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 37

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_031274.5. 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				3 clinvar		3
missense			33 clinvar	5 clinvar		38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	33	8	0	41

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 5 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_031274.5	RefSeq	NP_112564.1	2	MANE Select
ENST00000600991.6	Ensembl	ENSP00000471604.2	2	MANE Select
NM_001291277.2	RefSeq	NP_001278206.1	2	Standard
ENST00000609007.3	Ensembl	ENSP00000477478.2	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

protein binding
metal ion binding

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0801

Essentials

Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.0841

Gene Damage Prediction

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