TEX13A

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

Basic information

Region (hg38): X:105218928-105220694

Links

ENSG00000268629 ∙ NCBI:56157 ∙ OMIM:300312 ∙ HGNC:11735 ∙ Uniprot:Q9BXU3 ∙ 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 TEX13A gene.

• Inborn genetic diseases (6 variants)
• not provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX13A 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				2		2
missense			5	2		7
nonsense						0
start loss						0
frameshift						0
inframe indel				1		1
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	5	0

Variants in TEX13A

This is a list of pathogenic ClinVar variants found in the TEX13A region.

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

Position	Type	Phenotype	Significance	ClinVar
X-105219025-A-G		not specified	Uncertain significance (May 18, 2023)
X-105219034-G-A		not specified	Uncertain significance (Sep 29, 2023)
X-105219086-T-C		not specified	Uncertain significance (Nov 09, 2023)
X-105219144-G-T		not specified	Likely benign (Sep 06, 2022)
X-105219260-A-G		not specified	Likely benign (Sep 20, 2023)
X-105219278-TTGAGTA-T			Likely benign (Nov 01, 2022)
X-105219331-G-A		not specified	Uncertain significance (Dec 22, 2023)
X-105219384-G-C			Likely benign (Jul 01, 2022)
X-105219507-C-G			Likely benign (Dec 01, 2022)
X-105219688-C-T		not specified	Uncertain significance (Aug 08, 2022)
X-105219698-C-T		not specified	Uncertain significance (Dec 31, 2023)
X-105219701-C-A		not specified	Uncertain significance (Jun 29, 2023)
X-105219712-C-T		not specified	Uncertain significance (May 18, 2023)
X-105220042-T-C		not specified	Uncertain significance (Oct 13, 2023)
X-105220061-T-G		not specified	Uncertain significance (Feb 05, 2024)
X-105220168-C-T		not specified	Uncertain significance (Sep 25, 2023)
X-105220239-T-G			Likely benign (Feb 01, 2023)
X-105220376-G-T		not specified	Uncertain significance (Dec 27, 2022)
X-105220384-G-C		not specified	Uncertain significance (Feb 13, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0801

Haploinsufficiency Scores

• pHI: 0.0672
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0841

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tex13a

Gene ontology

• Molecular function: protein binding;metal ion binding