DCBLD1

discoidin, CUB and LCCL domain containing 1

Basic information

Region (hg38): 6:117453817-117569858

Links

ENSG00000164465NCBI:285761HGNC:21479Uniprot:Q8N8Z6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DCBLD1 gene.

  • not_specified (66 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCBLD1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001366458.2. 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
1
clinvar
1
missense
62
clinvar
4
clinvar
66
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 62 5 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DCBLD1protein_codingprotein_codingENST00000296955 15116042
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
6.33e-80.99312561001381257480.000549
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6222482770.8950.00001463500
Missense in Polyphen4246.4470.90427540
Synonymous-0.01991031031.000.000005931035
Loss of Function2.481732.20.5280.00000179370

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005170.000517
Ashkenazi Jewish0.00009930.0000992
East Asian0.0004240.000381
Finnish0.002450.00245
European (Non-Finnish)0.0005320.000519
Middle Eastern0.0004240.000381
South Asian0.0002290.000229
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.102

Intolerance Scores

loftool
0.275
rvis_EVS
-0.51
rvis_percentile_EVS
21.56

Haploinsufficiency Scores

pHI
0.173
hipred
N
hipred_score
0.317
ghis
0.557

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.190

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dcbld1
Phenotype

Gene ontology

Biological process
Cellular component
integral component of membrane
Molecular function