TRABD

TraB domain containing

Basic information

Region (hg38): 22:50185913-50199598

Links

ENSG00000170638NCBI:80305HGNC:28805Uniprot:Q9H4I3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • not_specified (61 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TRABD gene is commonly pathogenic or not. These statistics are base on transcript: NM_001320485.2. 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
3
clinvar
3
missense
53
clinvar
6
clinvar
59
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 53 9 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TRABDprotein_codingprotein_codingENST00000303434 913684
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.02290.9741256460141256600.0000557
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9312242670.8400.00001962418
Missense in Polyphen4984.2150.58184763
Synonymous-0.6651271181.080.00000937771
Loss of Function2.62618.00.3349.47e-7187

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002900.0000290
Ashkenazi Jewish0.0006030.000596
East Asian0.0001090.000109
Finnish0.00004810.0000462
European (Non-Finnish)0.00003560.0000352
Middle Eastern0.0001090.000109
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.105

Intolerance Scores

loftool
0.0721
rvis_EVS
-1.18
rvis_percentile_EVS
5.94

Haploinsufficiency Scores

pHI
0.0924
hipred
Y
hipred_score
0.580
ghis
0.665

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.885

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Trabd
Phenotype