TEX29

testis expressed 29

Basic information

Region (hg38): 13:111316184-111344249

Previous symbols: [ "C13orf16" ]

Links

ENSG00000153495 ∙ NCBI:121793 ∙ ∙ HGNC:20370 ∙ Uniprot:Q8N6K0 ∙ 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 TEX29 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX29 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			10	1		11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	1	0

Variants in TEX29

This is a list of pathogenic ClinVar variants found in the TEX29 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-111320927-C-A		not specified	Uncertain significance (Feb 06, 2023)
13-111328234-G-A		not specified	Uncertain significance (Jun 27, 2022)
13-111328263-G-A		not specified	Likely benign (Aug 02, 2022)
13-111328269-G-A		not specified	Uncertain significance (Apr 13, 2022)
13-111328285-C-T		not specified	Uncertain significance (Dec 13, 2022)
13-111339874-G-C		not specified	Uncertain significance (Jan 07, 2022)
13-111339901-G-A		not specified	Uncertain significance (May 31, 2023)
13-111339902-C-G		not specified	Uncertain significance (Nov 06, 2023)
13-111342761-T-C		not specified	Uncertain significance (Nov 17, 2023)
13-111342803-C-T		not specified	Uncertain significance (May 15, 2024)
13-111342824-A-G		not specified	Uncertain significance (Jan 23, 2024)
13-111344106-G-A		not specified	Uncertain significance (Oct 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEX29	protein_coding	protein_coding	ENST00000283547	5	28066

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000777	0.313	125720	0	28	125748	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.386	84	94.6	0.888	0.00000575	988
Missense in Polyphen		2	6.0873	0.32855		62
Synonymous	-0.262	45	42.8	1.05	0.00000325	279
Loss of Function	0.151	8	8.47	0.944	4.43e-7	98

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000295	0.000295
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000974	0.0000967
Middle Eastern	0.0000544	0.0000544
South Asian	0.000229	0.000229
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.0206
• hipred: N
• hipred_score: 0.123
• ghis: 0.433

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tex29
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Cellular component: integral component of membrane