BICDL1

BICD family like cargo adaptor 1

Basic information

Region (hg38): 12:119989236-120094494

Previous symbols: [ "CCDC64" ]

Links

ENSG00000135127 ∙ NCBI:92558 ∙ OMIM:617002 ∙ HGNC:28095 ∙ Uniprot:Q6ZP65 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BICDL1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BICDL1 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	0	0

Variants in BICDL1

This is a list of pathogenic ClinVar variants found in the BICDL1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-120071625-C-T		not specified	Uncertain significance (Nov 15, 2021)
12-120081001-G-A		not specified	Uncertain significance (Sep 30, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BICDL1	protein_coding	protein_coding	ENST00000397558	9	104626

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.948	0.0521	124792	0	6	124798	0.0000240

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.984	262	311	0.843	0.0000182	3679
Missense in Polyphen		64	102.6	0.62376		1269
Synonymous	-0.725	141	130	1.08	0.00000757	1130
Loss of Function	4.36	5	31.4	0.159	0.00000191	315

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000936	0.0000935
Ashkenazi Jewish	0.000111	0.0000993
East Asian	0.0000585	0.0000556
Finnish	0.00	0.00
European (Non-Finnish)	0.0000178	0.0000177
Middle Eastern	0.0000585	0.0000556
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of secretory vesicle machinery in developing neurons that acts as a regulator of neurite outgrowth. Regulates the secretory vesicle transport by controlling the accumulation of Rab6-containing secretory vesicles in the pericentrosomal region restricting anterograde secretory transport during the early phase of neuronal differentiation, thereby inhibiting neuritogenesis (By similarity). {ECO:0000250}.

Intolerance Scores

• rvis_EVS: -0.58
• rvis_percentile_EVS: 18.44

Haploinsufficiency Scores

• pHI: 0.0675
• hipred: Y
• hipred_score: 0.639
• ghis: 0.565

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Bicdl1
• Phenotype: growth/size/body region phenotype; homeostasis/metabolism phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); limbs/digits/tail phenotype; immune system phenotype

Zebrafish Information Network

• Gene name: bicdl1
• Affected structure: post-vent region
• Phenotype tag: abnormal
• Phenotype quality: curved dorsal

Gene ontology

• Biological process: neuron projection development;vesicle transport along microtubule;Golgi to secretory granule transport
• Cellular component: cytoplasm;centrosome
• Molecular function: Rab GTPase binding;dynactin binding