TEX261

testis expressed 261

Basic information

Region (hg38): 2:70968325-70994873

Links

ENSG00000144043 ∙ NCBI:113419 ∙ OMIM:618562 ∙ HGNC:30712 ∙ Uniprot:Q6UWH6 ∙ 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 TEX261 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX261 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			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			45	7		52
Total	0	0	54	7	0

Variants in TEX261

This is a list of pathogenic ClinVar variants found in the TEX261 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-70978671-G-A		not specified	Uncertain significance (Apr 25, 2023)
2-70978677-C-A		not specified	Uncertain significance (Jan 26, 2022)
2-70978779-A-T		not specified	Uncertain significance (Oct 27, 2022)
2-70978793-G-A		not specified	Uncertain significance (Sep 27, 2022)
2-70979154-G-T		not specified	Uncertain significance (Sep 21, 2023)
2-70979156-C-A		not specified	Uncertain significance (Dec 11, 2023)
2-70979188-G-T		not specified	Uncertain significance (Aug 16, 2022)
2-70979189-C-T		not specified	Likely benign (Aug 16, 2022)
2-70979206-A-G		not specified	Likely benign (Mar 01, 2024)
2-70979208-G-C		not specified	Uncertain significance (Oct 05, 2023)
2-70979254-T-G		not specified	Uncertain significance (Sep 27, 2021)
2-70979671-C-A		not specified	Uncertain significance (Jun 09, 2022)
2-70979680-T-A		not specified	Uncertain significance (Oct 26, 2022)
2-70979721-G-A		not specified	Uncertain significance (Oct 06, 2021)
2-70979757-A-C		not specified	Uncertain significance (Jun 12, 2023)
2-70979770-C-T		not specified	Uncertain significance (May 15, 2024)
2-70979781-C-T		not specified	Uncertain significance (Apr 23, 2024)
2-70979800-A-C		not specified	Uncertain significance (Mar 19, 2024)
2-70981947-A-G		not specified	Uncertain significance (Mar 06, 2023)
2-70981956-C-T		not specified	Uncertain significance (Jun 10, 2024)
2-70981976-C-T		not specified	Uncertain significance (Oct 03, 2023)
2-70982001-A-C		not specified	Uncertain significance (Jul 06, 2021)
2-70982099-C-T		not specified	Uncertain significance (Dec 03, 2021)
2-70982583-G-A			Likely benign (Jul 01, 2022)
2-70982595-G-A		not specified	Uncertain significance (Aug 12, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEX261	protein_coding	protein_coding	ENST00000272438	6	9008

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00122	0.861	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.24	75	112	0.671	0.00000645	1253
Missense in Polyphen		24	43.666	0.54963		490
Synonymous	-0.586	50	45.0	1.11	0.00000272	388
Loss of Function	1.28	6	10.5	0.573	4.46e-7	124

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000571	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000137	0.000132
Middle Eastern	0.0000571	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.108

Intolerance Scores

• rvis_EVS: -0.23
• rvis_percentile_EVS: 36.86

Haploinsufficiency Scores

• pHI: 0.274
• hipred: N
• hipred_score: 0.139
• ghis: 0.521

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.362

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Tex261

Gene ontology

• Biological process: endoplasmic reticulum to Golgi vesicle-mediated transport
• Cellular component: COPII-coated ER to Golgi transport vesicle;integral component of Golgi membrane;integral component of endoplasmic reticulum membrane
• Molecular function: COPII adaptor activity