TEX22

testis expressed 22

Basic information

Region (hg38): 14:105398537-105450106

Links

ENSG00000226174 ∙ NCBI:647310 ∙ ∙ HGNC:40026 ∙ Uniprot:C9J3V5 ∙ 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 TEX22 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX22 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	1		9
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	1	0

Variants in TEX22

This is a list of pathogenic ClinVar variants found in the TEX22 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-105399357-T-C			Uncertain significance (Mar 28, 2018)
14-105399360-C-G		not specified	Uncertain significance (May 14, 2024)
14-105399447-G-A		not specified	Uncertain significance (Jun 04, 2024)
14-105399456-G-T		not specified	Uncertain significance (Mar 21, 2024)
14-105399465-A-G		not specified	Uncertain significance (May 13, 2024)
14-105411377-C-G		not specified	Uncertain significance (Sep 27, 2022)
14-105411381-C-T		not specified	Uncertain significance (May 15, 2024)
14-105411386-C-T		not specified	Uncertain significance (Jan 11, 2023)
14-105411435-G-A		not specified	Uncertain significance (Jan 24, 2024)
14-105411467-G-A		not specified	Uncertain significance (Oct 20, 2021)
14-105411482-C-G		not specified	Uncertain significance (Jan 11, 2023)
14-105411489-A-C		not specified	Uncertain significance (Dec 05, 2022)
14-105411720-C-T		not specified	Uncertain significance (Feb 28, 2024)
14-105411799-C-T		not specified	Likely benign (Feb 10, 2022)
14-105445505-C-A		not specified	Uncertain significance (Apr 09, 2024)
14-105449392-C-T		not specified	Uncertain significance (Apr 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TEX22	protein_coding	protein_coding	ENST00000451127	3	51528

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000695	0.320	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.756	39	54.7	0.712	0.00000327	946
Missense in Polyphen		5	6.5208	0.76678		122
Synonymous	1.67	15	25.8	0.581	0.00000162	325
Loss of Function	-0.667	4	2.80	1.43	1.21e-7	48

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• 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: Tex22
• Phenotype: normal phenotype

Gene ontology

• Cellular component: acrosomal vesicle