TSNAXIP1

translin associated factor X interacting protein 1, the group of TSNAXIP1 domain containing

Basic information

Region (hg38): 16:67806765-67832148

Links

ENSG00000102904NCBI:55815OMIM:607720HGNC:18586Uniprot:Q2TAA8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TSNAXIP1 gene.

  • not_specified (109 variants)
  • Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TSNAXIP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001288990.3. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
102
clinvar
7
clinvar
109
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 102 8 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TSNAXIP1protein_codingprotein_codingENST00000388833 1425384
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.28e-290.0000105124393213531257480.00540
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.4684003751.070.00002224364
Missense in Polyphen155137.831.12461688
Synonymous0.02331471470.9980.000008651195
Loss of Function-0.8714034.51.160.00000171397

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.01840.0165
Ashkenazi Jewish0.001900.00189
East Asian0.005500.00507
Finnish0.004070.00384
European (Non-Finnish)0.006260.00596
Middle Eastern0.005500.00507
South Asian0.002410.00232
Other0.003740.00359

dbNSFP

Source: dbNSFP

Function
FUNCTION: Possible role in spermatogenesis. {ECO:0000250|UniProtKB:Q99P25}.;

Recessive Scores

pRec
0.107

Intolerance Scores

loftool
0.268
rvis_EVS
-0.49
rvis_percentile_EVS
22.7

Haploinsufficiency Scores

pHI
0.138
hipred
N
hipred_score
0.200
ghis
0.543

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.464

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tsnaxip1
Phenotype

Gene ontology

Biological process
multicellular organism development;spermatogenesis;biological_process;cell differentiation
Cellular component
cellular_component;perinuclear region of cytoplasm
Molecular function
molecular_function