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GeneBe

BICD1

BICD cargo adaptor 1

Basic information

Region (hg38): 12:32106834-32383633

Links

ENSG00000151746NCBI:636OMIM:602204HGNC:1049Uniprot:Q96G01AlphaFoldGenCCjaxSfariGnomADPubmed

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BICD1 gene.

  • Inborn genetic diseases (15 variants)
  • not specified (2 variants)
  • not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BICD1 gene is commonly pathogenic or not.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 4 4
missense 15 15
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 0
non coding 0
Total 0 0 15 0 4

Variants in BICD1

This is a list of pathogenic ClinVar variants found in the BICD1 region.

Position Type Phenotype Significance ClinVar
12-32107396-A-G Inborn genetic diseases Uncertain significance (Jan 04, 2022)link
12-32107418-C-G Inborn genetic diseases Uncertain significance (Jun 28, 2023)link
12-32107445-G-A Benign (Mar 29, 2018)link
12-32107519-A-G Inborn genetic diseases Uncertain significance (Dec 16, 2022)link
12-32216297-G-C Inborn genetic diseases Uncertain significance (Aug 14, 2023)link
12-32216354-G-A Benign (Jul 16, 2018)link
12-32216379-C-A Inborn genetic diseases Uncertain significance (Dec 21, 2022)link
12-32216425-A-G Inborn genetic diseases Uncertain significance (Aug 14, 2023)link
12-32305742-G-C Inborn genetic diseases Uncertain significance (Jun 24, 2022)link
12-32305776-C-T Inborn genetic diseases Uncertain significance (Jul 13, 2022)link
12-32327475-G-T Inborn genetic diseases Uncertain significance (Aug 23, 2021)link
12-32327540-C-T Inborn genetic diseases Uncertain significance (Sep 09, 2021)link
12-32327562-C-A Inborn genetic diseases Uncertain significance (Jul 20, 2021)link
12-32327816-A-C Inborn genetic diseases Uncertain significance (May 24, 2023)link
12-32327830-A-C Inborn genetic diseases Uncertain significance (May 06, 2022)link
12-32327840-A-G Inborn genetic diseases Uncertain significance (Nov 12, 2021)link
12-32327858-G-A Inborn genetic diseases Uncertain significance (Jul 19, 2022)link
12-32327882-G-A Inborn genetic diseases Uncertain significance (Dec 08, 2022)link
12-32328118-C-G Inborn genetic diseases Uncertain significance (Sep 17, 2021)link
12-32328159-G-C not specified Benign (Mar 28, 2016)link
12-32328311-G-A Inborn genetic diseases Uncertain significance (Feb 16, 2023)link
12-32328385-G-C Inborn genetic diseases Uncertain significance (Jan 25, 2023)link
12-32328435-C-T not specified Benign (Mar 28, 2016)link
12-32337693-T-C Inborn genetic diseases Uncertain significance (Jan 25, 2023)link
12-32337695-G-A Inborn genetic diseases Uncertain significance (Apr 26, 2023)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
BICD1protein_codingprotein_codingENST00000281474 10276799
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00001571.001257060421257480.000167
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.273975460.7270.00003096393
Missense in Polyphen140244.340.572972967
Synonymous0.7252072210.9380.00001251873
Loss of Function3.771642.50.3760.00000235526

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005200.000520
Ashkenazi Jewish0.0001980.000198
East Asian0.0001100.000109
Finnish0.00004620.0000462
European (Non-Finnish)0.0001640.000158
Middle Eastern0.0001100.000109
South Asian0.00006650.0000653
Other0.0003590.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Regulates coat complex coatomer protein I (COPI)- independent Golgi-endoplasmic reticulum transport by recruiting the dynein-dynactin motor complex.;
Pathway
Vesicle-mediated transport;Membrane Trafficking;COPI-independent Golgi-to-ER retrograde traffic;Golgi-to-ER retrograde transport;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

pRec
0.100

Intolerance Scores

loftool
0.706
rvis_EVS
-1.51
rvis_percentile_EVS
3.54

Haploinsufficiency Scores

pHI
0.310
hipred
Y
hipred_score
0.663
ghis
0.669

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.821

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Bicd1
Phenotype
homeostasis/metabolism phenotype; hearing/vestibular/ear phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process
RNA processing;intracellular mRNA localization;anatomical structure morphogenesis;viral process;protein localization to organelle;stress granule assembly;positive regulation of receptor-mediated endocytosis;regulation of microtubule cytoskeleton organization;minus-end-directed organelle transport along microtubule;microtubule anchoring at microtubule organizing center;negative regulation of phospholipase C activity;regulation of proteinase activated receptor activity;negative regulation of phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of protein localization to centrosome
Cellular component
Golgi apparatus;trans-Golgi network;centrosome;cytosol;cytoskeleton;cytoplasmic microtubule;membrane;cytoplasmic vesicle;tubulin complex;perinuclear region of cytoplasm;host cell viral assembly compartment
Molecular function
structural constituent of cytoskeleton;protein binding;cytoskeletal adaptor activity;Rab GTPase binding;protein kinase binding;proteinase activated receptor binding;dynactin binding;dynein intermediate chain binding;dynein complex binding