TEX35

testis expressed 35

Basic information

Region (hg38): 1:178513108-178548602

Previous symbols: [ "C1orf49" ]

Links

ENSG00000240021 ∙ NCBI:84066 ∙ ∙ HGNC:25366 ∙ Uniprot:Q5T0J7 ∙ 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 TEX35 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX35 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 TEX35

This is a list of pathogenic ClinVar variants found in the TEX35 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-178513205-C-A		not specified	Uncertain significance (Dec 14, 2023)
1-178514030-A-G		not specified	Uncertain significance (Jun 14, 2024)
1-178514070-C-T		not specified	Uncertain significance (Jun 18, 2021)
1-178514734-G-A		not specified	Uncertain significance (Sep 06, 2022)
1-178515871-G-C		not specified	Uncertain significance (Feb 27, 2024)
1-178515893-A-G		not specified	Uncertain significance (Apr 25, 2023)
1-178516637-A-T		not specified	Uncertain significance (Mar 29, 2023)
1-178516640-T-G		not specified	Uncertain significance (May 02, 2024)
1-178520384-G-T		not specified	Uncertain significance (Apr 04, 2023)
1-178520690-C-A		not specified	Uncertain significance (Dec 08, 2023)
1-178520758-A-T		not specified	Uncertain significance (Dec 07, 2021)
1-178520800-C-G		not specified	Uncertain significance (Mar 13, 2023)
1-178522411-G-T		not specified	Uncertain significance (Apr 13, 2022)
1-178522435-A-G		not specified	Uncertain significance (Jul 13, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEX35	protein_coding	protein_coding	ENST00000319416	9	35523

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.43e-8	0.319	125693	1	54	125748	0.000219

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.321	109	119	0.917	0.00000567	1527
Missense in Polyphen		55	59.142	0.92996		840
Synonymous	-0.917	49	41.5	1.18	0.00000219	396
Loss of Function	0.555	12	14.3	0.841	6.99e-7	177

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000290	0.000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.000110	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.000212	0.000211
Middle Eastern	0.000110	0.000109
South Asian	0.000590	0.000555
Other	0.000329	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0930

Intolerance Scores

• rvis_EVS: 1.26
• rvis_percentile_EVS: 93.56

Haploinsufficiency Scores

• pHI: 0.223
• hipred: N
• hipred_score: 0.123

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: Tex35

Gene ontology

• Cellular component: nucleus;microtubule cytoskeleton