TEX37

testis expressed 37

Basic information

Region (hg38): 2:88524648-88529585

Previous symbols: [ "C2orf51" ]

Links

ENSG00000172073 ∙ NCBI:200523 ∙ OMIM:619676 ∙ HGNC:26341 ∙ Uniprot:Q96LM6 ∙ 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 TEX37 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX37 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			8	3		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	8	3	0

Variants in TEX37

This is a list of pathogenic ClinVar variants found in the TEX37 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-88526426-T-C		not specified	Uncertain significance (Sep 20, 2023)
2-88526490-C-T		not specified	Likely benign (Dec 01, 2022)
2-88529081-C-A		not specified	Uncertain significance (Apr 22, 2024)
2-88529106-A-G		not specified	Uncertain significance (Oct 06, 2021)
2-88529131-G-C		not specified	Uncertain significance (Dec 03, 2021)
2-88529152-C-T		not specified	Uncertain significance (Jun 04, 2024)
2-88529167-A-G		not specified	Likely benign (Apr 06, 2024)
2-88529181-C-T		not specified	Uncertain significance (Dec 19, 2023)
2-88529226-G-A		not specified	Likely benign (Oct 20, 2023)
2-88529337-G-C		not specified	Likely benign (Aug 22, 2023)
2-88529349-C-T		not specified	Uncertain significance (Dec 21, 2022)
2-88529355-C-T		not specified	Uncertain significance (Mar 29, 2022)
2-88529442-C-T		not specified	Uncertain significance (Aug 13, 2021)
2-88529452-C-G		not specified	Uncertain significance (Aug 02, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEX37	protein_coding	protein_coding	ENST00000303254	3	4934

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000312	0.203	125608	0	139	125747	0.000553

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.658	121	102	1.18	0.00000553	1180
Missense in Polyphen		42	32.179	1.3052		349
Synonymous	-0.741	50	43.8	1.14	0.00000279	342
Loss of Function	-0.643	6	4.52	1.33	1.92e-7	52

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00680	0.00682
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00680	0.00682
South Asian	0.000365	0.000359
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0883

Intolerance Scores

• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.48

Haploinsufficiency Scores

• pHI: 0.129
• hipred: N
• hipred_score: 0.123
• ghis: 0.415

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: Tex37
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype

Gene ontology

• Cellular component: nucleus;cytoplasm
• Molecular function: protein binding