DCBLD2

discoidin, CUB and LCCL domain containing 2

Basic information

Region (hg38): 3:98795941-98901695

Links

ENSG00000057019NCBI:131566OMIM:608698HGNC:24627Uniprot:Q96PD2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DCBLD2 gene.

  • not_specified (87 variants)
  • not_provided (2 variants)
  • DCBLD2-related_disorder (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCBLD2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000080927.4. 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
clinvar
2
missense
82
clinvar
6
clinvar
88
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 83 7 1
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DCBLD2protein_codingprotein_codingENST00000326840 16105749
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.09540.9051246240301246540.000120
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.9533604150.8680.00002114994
Missense in Polyphen73113.670.642231339
Synonymous0.08771491500.9910.000007831538
Loss of Function4.09935.20.2560.00000149467

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001880.000187
Ashkenazi Jewish0.000.00
East Asian0.0001730.000167
Finnish0.000.00
European (Non-Finnish)0.0001070.000106
Middle Eastern0.0001730.000167
South Asian0.0003300.000294
Other0.0003310.000330

dbNSFP

Source: dbNSFP

Pathway
EGFR1 (Consensus)

Recessive Scores

pRec
0.100

Intolerance Scores

loftool
0.299
rvis_EVS
0.71
rvis_percentile_EVS
85.76

Haploinsufficiency Scores

pHI
0.173
hipred
N
hipred_score
0.443
ghis
0.495

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.657

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dcbld2
Phenotype
cellular phenotype; vision/eye phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; immune system phenotype; skeleton phenotype;

Zebrafish Information Network

Gene name
dcbld2
Affected structure
thrombocyte
Phenotype tag
abnormal
Phenotype quality
aggregated

Gene ontology

Biological process
negative regulation of cell growth;intracellular receptor signaling pathway;wound healing
Cellular component
integral component of plasma membrane;cell surface
Molecular function
protein binding