TEX46

testis expressed 46

Basic information

Region (hg38): 1:23010834-23019100

Previous symbols: [ "C1orf234" ]

Links

ENSG00000227868NCBI:729059HGNC:44651Uniprot:H3BTG2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TEX46 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX46 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
3
clinvar
3
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 3 0 0

Variants in TEX46

This is a list of pathogenic ClinVar variants found in the TEX46 region.

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

Position Type Phenotype Significance ClinVar
1-23011066-C-T not specified Uncertain significance (Oct 06, 2021)3176413
1-23011086-G-A not specified Uncertain significance (Aug 10, 2021)3176412
1-23014013-G-A not specified Uncertain significance (Sep 01, 2021)3176414

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TEX46protein_codingprotein_codingENST00000566855 35017
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.007650.56400000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.014568.40.6570.00000371808
Missense in Polyphen912.130.74197157
Synonymous2.201125.00.4400.00000132223
Loss of Function0.14433.280.9141.39e-741

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
hipred_score
ghis
0.397

Mouse Genome Informatics

Gene name
Tex46
Phenotype