EFCAB10

EF-hand calcium binding domain 10, the group of EF-hand domain containing

Basic information

Region (hg38): 7:105565120-105600875

Links

ENSG00000185055NCBI:100130771HGNC:34531Uniprot:A6NFE3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EFCAB10 gene.

  • not_specified (197 variants)
  • not_provided (118 variants)
  • Infantile_liver_failure_syndrome_3 (5 variants)
  • RINT1-related_disorder (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EFCAB10 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001355526.2. 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
0
missense
0
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
Total 0 0 0 1 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EFCAB10protein_codingprotein_codingENST00000485614 535756
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.008990.82000000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4396070.40.8530.00000332977
Missense in Polyphen1619.7860.80864283
Synonymous-0.2102826.61.050.00000141262
Loss of Function1.0847.120.5623.80e-7108

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.123
ghis

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
S
essential_gene_gene_trap
gene_indispensability_pred
N
gene_indispensability_score
0.315

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Efcab10
Phenotype

Gene ontology

Biological process
Cellular component
Molecular function
calcium ion binding