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GeneBe

TEX47

testis expressed 47

Basic information

Region (hg38): 7:88794105-88795737

Previous symbols: [ "C7orf62" ]

Links

ENSG00000164645NCBI:219557HGNC:22402Uniprot:Q8TBZ9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TEX47 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TEX47 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
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 0 0 0

Variants in TEX47

This is a list of pathogenic ClinVar variants found in the TEX47 region.

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

Position Type Phenotype Significance ClinVar
7-88794878-A-G not specified Uncertain significance (Oct 12, 2021)3176415

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TEX47protein_codingprotein_codingENST00000297203 11616
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00004150.4091256120181256300.0000716
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1761411351.040.000006611668
Missense in Polyphen3635.0071.0284453
Synonymous0.1495051.40.9740.00000279489
Loss of Function0.27377.820.8954.29e-789

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001850.000185
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.00004630.0000462
European (Non-Finnish)0.0001020.0000969
Middle Eastern0.0001090.000109
South Asian0.00003280.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
rvis_EVS
0.35
rvis_percentile_EVS
74.37

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.123
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
Tex47
Phenotype