TEX38

testis expressed 38

Basic information

Region (hg38): 1:46668855-46673594

Previous symbols: [ "C1orf223", "ATPAF1-AS1" ]

Links

ENSG00000186118 ∙ NCBI:374973 ∙ ∙ HGNC:29589 ∙ Uniprot:Q6PEX7 ∙ 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 TEX38 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX38 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			13	1	1	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	15	1	1

Variants in TEX38

This is a list of pathogenic ClinVar variants found in the TEX38 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-46671952-G-C		not specified	Uncertain significance (Feb 13, 2024)
1-46671965-C-T		not specified	Uncertain significance (May 16, 2024)
1-46672874-G-C		not specified	Uncertain significance (Aug 30, 2022)
1-46672945-A-G		not specified	Uncertain significance (Oct 27, 2022)
1-46672947-T-C		not specified	Uncertain significance (Dec 06, 2022)
1-46672989-G-A		not specified	Uncertain significance (Nov 09, 2021)
1-46673002-G-C		not specified	Uncertain significance (Dec 19, 2023)
1-46673022-A-T		not specified	Uncertain significance (Sep 25, 2023)
1-46673052-C-T		not specified	Uncertain significance (Oct 12, 2022)
1-46673056-G-A		not specified	Likely benign (Feb 28, 2023)
1-46673110-C-T		not specified	Uncertain significance (Dec 01, 2022)
1-46673121-G-T		not specified	Uncertain significance (Dec 02, 2022)
1-46673160-G-A		not specified	Uncertain significance (Sep 17, 2021)
1-46673194-C-T		not specified	Uncertain significance (Jan 26, 2022)
1-46673292-G-A		not specified	Uncertain significance (Jun 06, 2023)
1-46673379-G-A		not specified	Uncertain significance (Dec 01, 2022)
1-46673425-T-G		not specified	Uncertain significance (Nov 03, 2022)
1-46673445-T-A			Benign (May 15, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEX38	protein_coding	protein_coding	ENST00000334122	2	4740

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.27e-7	0.0846	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.824	85	109	0.778	0.00000560	1334
Missense in Polyphen		22	30.104	0.73081		370
Synonymous	0.674	41	46.9	0.875	0.00000237	427
Loss of Function	-0.726	9	6.94	1.30	3.81e-7	70

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tex38

Gene ontology

• Cellular component: integral component of membrane