TEX33

testis expressed 33

Basic information

Region (hg38): 22:36991119-37007851

Previous symbols: [ "C22orf33" ]

Links

ENSG00000185264 ∙ NCBI:339669 ∙ ∙ HGNC:28568 ∙ Uniprot:O43247 ∙ 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 TEX33 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX33 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			21	5		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	5	0

Variants in TEX33

This is a list of pathogenic ClinVar variants found in the TEX33 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-36991190-A-C		not specified	Uncertain significance (Sep 27, 2022)
22-36991204-C-T		not specified	Uncertain significance (Nov 07, 2022)
22-36991210-T-A		not specified	Uncertain significance (Aug 16, 2021)
22-36991221-C-A		not specified	Uncertain significance (Jan 23, 2024)
22-36991242-G-C		not specified	Uncertain significance (Sep 21, 2021)
22-36991274-G-A		not specified	Uncertain significance (May 16, 2022)
22-36999842-C-T		not specified	Likely benign (Feb 06, 2023)
22-36999857-C-T		not specified	Uncertain significance (Mar 15, 2024)
22-36999858-G-A		not specified	Uncertain significance (Feb 22, 2023)
22-36999881-T-A		not specified	Uncertain significance (May 31, 2023)
22-36999894-C-T		not specified	Likely benign (Mar 01, 2023)
22-36999897-A-C		not specified	Uncertain significance (Mar 07, 2023)
22-36999962-A-G		not specified	Likely benign (May 18, 2023)
22-37001860-C-T		not specified	Uncertain significance (Dec 15, 2022)
22-37001928-G-A		not specified	Uncertain significance (Aug 13, 2021)
22-37001943-T-G		not specified	Uncertain significance (Apr 09, 2024)
22-37001965-C-T		not specified	Uncertain significance (Nov 18, 2022)
22-37002000-G-A		not specified	Likely benign (Apr 08, 2024)
22-37002003-G-A		not specified	Uncertain significance (Jan 09, 2024)
22-37002037-C-A		not specified	Uncertain significance (Mar 29, 2023)
22-37002039-G-A		not specified	Uncertain significance (Dec 09, 2023)
22-37002109-G-A		not specified	Uncertain significance (Mar 14, 2023)
22-37002127-G-C		not specified	Uncertain significance (May 31, 2023)
22-37002150-T-C		not specified	Likely benign (Mar 19, 2024)
22-37002205-A-G		not specified	Uncertain significance (Jun 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEX33	protein_coding	protein_coding	ENST00000405091	5	16720

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.20e-7	0.204	125425	2	321	125748	0.00129

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.704	163	140	1.17	0.00000769	1828
Missense in Polyphen		8	9.813	0.81525		118
Synonymous	-0.459	62	57.6	1.08	0.00000351	521
Loss of Function	0.190	11	11.7	0.940	6.24e-7	139

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0148	0.0129
Ashkenazi Jewish	0.00	0.00
East Asian	0.000387	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000524	0.000519
Middle Eastern	0.000387	0.000381
South Asian	0.000920	0.000882
Other	0.000862	0.000815

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.69
• rvis_percentile_EVS: 85.1

Haploinsufficiency Scores

• pHI: 0.0981
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tex33