TEX36

testis expressed 36

Basic information

Region (hg38): 10:125576521-125683163

Previous symbols: [ "C10orf122" ]

Links

ENSG00000175018 ∙ NCBI:387718 ∙ ∙ HGNC:31653 ∙ Uniprot:Q5VZQ5 ∙ 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 TEX36 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX36 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in TEX36

This is a list of pathogenic ClinVar variants found in the TEX36 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-125655907-T-A		not specified	Uncertain significance (Oct 25, 2022)
10-125656028-G-C		not specified	Uncertain significance (Aug 14, 2023)
10-125656147-C-A		not specified	Uncertain significance (Sep 12, 2023)
10-125656156-T-C		not specified	Uncertain significance (Mar 20, 2024)
10-125656157-G-A		not specified	Uncertain significance (Jan 30, 2024)
10-125656187-G-A		not specified	Uncertain significance (Oct 12, 2022)
10-125661848-T-C		not specified	Uncertain significance (Dec 28, 2023)
10-125661853-C-T		not specified	Uncertain significance (Apr 28, 2022)
10-125661913-G-A		not specified	Uncertain significance (Jun 24, 2022)
10-125661923-A-G		not specified	Uncertain significance (Aug 17, 2022)
10-125661938-T-C		not specified	Uncertain significance (Jan 29, 2024)
10-125661967-A-T		not specified	Uncertain significance (Jul 06, 2021)
10-125682965-G-T		not specified	Uncertain significance (Sep 06, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEX36	protein_coding	protein_coding	ENST00000368821	4	106623

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000215	0.516	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.752	81	102	0.791	0.00000610	1200
Missense in Polyphen		18	34.039	0.52881		396
Synonymous	0.679	33	38.4	0.860	0.00000227	354
Loss of Function	0.412	6	7.19	0.834	4.88e-7	69

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

Intolerance Scores

• rvis_EVS: 1.3
• rvis_percentile_EVS: 93.94

Haploinsufficiency Scores

• pHI: 0.0538

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: 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: Tex36