TEX101

testis expressed 101, the group of LY6/PLAUR domain containing

Basic information

Region (hg38): 19:43401495-43418597

Links

ENSG00000131126 ∙ NCBI:83639 ∙ OMIM:612665 ∙ HGNC:30722 ∙ Uniprot:Q9BY14 ∙ 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 TEX101 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX101 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 TEX101

This is a list of pathogenic ClinVar variants found in the TEX101 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-43416120-A-T		not specified	Uncertain significance (Apr 20, 2023)
19-43416126-G-A		not specified	Uncertain significance (Mar 16, 2022)
19-43416373-G-T		not specified	Uncertain significance (Jun 22, 2023)
19-43416487-A-G		not specified	Uncertain significance (Nov 12, 2021)
19-43417974-G-A		not specified	Uncertain significance (Sep 16, 2021)
19-43418213-T-C		not specified	Uncertain significance (Jul 22, 2022)
19-43418228-T-G		not specified	Uncertain significance (Sep 16, 2021)
19-43418281-C-G		not specified	Uncertain significance (Jul 20, 2022)
19-43418320-A-G		not specified	Uncertain significance (May 31, 2022)
19-43418335-C-T		not specified	Likely benign (Jan 26, 2022)
19-43418390-T-C		not specified	Uncertain significance (Dec 15, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEX101	protein_coding	protein_coding	ENST00000602198	6	17116

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000795	0.791	125729	0	15	125744	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0685	144	146	0.984	0.00000719	1711
Missense in Polyphen		35	42.178	0.82982		529
Synonymous	1.09	47	57.5	0.817	0.00000303	559
Loss of Function	1.07	6	9.55	0.628	4.04e-7	117

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000209	0.000209
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000621	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in fertilization by controlling binding of sperm to zona pellucida and migration of spermatozoa into the oviduct (By similarity). May play a role in signal transduction and promote protein tyrosine phosphorylation (By similarity). {ECO:0000250|UniProtKB:Q924B5, ECO:0000250|UniProtKB:Q9JMI7}.
• Pathway: Post-translational modification: synthesis of GPI-anchored proteins;Post-translational protein modification;Metabolism of proteins (Consensus)

Recessive Scores

• pRec: 0.0762

Intolerance Scores

• loftool: 0.961
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.22

Haploinsufficiency Scores

• pHI: 0.218
• hipred: N
• hipred_score: 0.123
• ghis: 0.390

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00560

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tex101
• Phenotype: cellular phenotype; reproductive system phenotype

Gene ontology

• Biological process: binding of sperm to zona pellucida;fertilization;flagellated sperm motility;regulation of flagellated sperm motility
• Cellular component: acrosomal vesicle;extracellular region;plasma membrane;membrane raft;anchored component of plasma membrane