BOC

BOC cell adhesion associated, oncogene regulated, the group of Ig-like cell adhesion molecule family|Fibronectin type III domain containing|I-set domain containing

Basic information

Region (hg38): 3:113211002-113287459

Links

ENSG00000144857 ∙ NCBI:91653 ∙ OMIM:608708 ∙ HGNC:17173 ∙ Uniprot:Q9BWV1 ∙ 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 BOC gene.

• Inborn genetic diseases (50 variants)
• not provided (12 variants)
• Holoprosencephaly sequence (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BOC 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				4	3	7
missense			49	2	3	54
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	49	6	6

Variants in BOC

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

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

Position	Type	Phenotype	Significance	ClinVar
3-113249822-C-T		not specified	Uncertain significance (Jul 15, 2021)
3-113249825-C-T		not specified	Uncertain significance (Apr 26, 2023)
3-113249861-G-A		not specified	Uncertain significance (Nov 10, 2022)
3-113250569-G-T		not specified	Uncertain significance (Sep 27, 2021)
3-113250587-T-C		not specified	Uncertain significance (Dec 21, 2022)
3-113250740-G-A		not specified	Uncertain significance (Nov 30, 2022)
3-113250752-C-T		not specified	Uncertain significance (Jul 13, 2022)
3-113250764-C-T		not specified	Uncertain significance (Jul 15, 2021)
3-113268444-A-C		not specified	Uncertain significance (Oct 26, 2022)
3-113270877-T-C			Likely benign (May 15, 2018)
3-113270921-C-T		not specified	Uncertain significance (Jan 16, 2024)
3-113270935-C-T		not specified	Uncertain significance (Sep 27, 2022)
3-113270936-G-A		not specified	Uncertain significance (Dec 28, 2022)
3-113272436-A-G		not specified	Uncertain significance (May 04, 2022)
3-113272487-A-G		not specified	Uncertain significance (Dec 26, 2023)
3-113272551-G-C		not specified	Uncertain significance (Dec 07, 2021)
3-113272557-C-A			Likely benign (Jun 19, 2018)
3-113272557-C-T		not specified	Uncertain significance (Sep 14, 2023)
3-113272570-G-T		not specified	Uncertain significance (Feb 15, 2023)
3-113272572-C-T		not specified	Uncertain significance (Jan 03, 2024)
3-113273072-C-A		not specified	Uncertain significance (Jan 17, 2024)
3-113273087-T-C		not specified	Uncertain significance (Dec 17, 2023)
3-113273129-A-G		not specified	Uncertain significance (Jan 23, 2024)
3-113273166-C-T			Likely benign (Jan 01, 2023)
3-113273180-G-A		not specified	Uncertain significance (Jun 12, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BOC	protein_coding	protein_coding	ENST00000495514	18	76454

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.74e-7	1.00	125697	0	51	125748	0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.19	631	721	0.875	0.0000461	7196
Missense in Polyphen		173	264.69	0.6536		2672
Synonymous	-0.0899	296	294	1.01	0.0000202	2334
Loss of Function	4.03	21	52.5	0.400	0.00000280	541

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000448	0.000445
Ashkenazi Jewish	0.0000997	0.0000992
East Asian	0.000326	0.000326
Finnish	0.0000928	0.0000924
European (Non-Finnish)	0.000206	0.000202
Middle Eastern	0.000326	0.000326
South Asian	0.000211	0.000196
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells.
• Pathway: Axon guidance - Homo sapiens (human);Hedgehog signaling pathway - Homo sapiens (human);HH-Ncore;Ectoderm Differentiation;Hedgehog ,on, state;Hedgehog Signaling Pathway;Developmental Biology;Signal Transduction;Hedgehog;CDO in myogenesis;Myogenesis;Ligand-receptor interactions;GLI proteins bind promoters of Hh responsive genes to promote transcription;Hedgehog ,on, state;Signaling by Hedgehog;Signaling events mediated by the Hedgehog family (Consensus)

Recessive Scores

• pRec: 0.993

Intolerance Scores

• loftool: 0.599
• rvis_EVS: -1.63
• rvis_percentile_EVS: 2.88

Haploinsufficiency Scores

• pHI: 0.119
• hipred: Y
• hipred_score: 0.542
• ghis: 0.565

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.956

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Boc
• Phenotype: craniofacial phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; vision/eye phenotype; renal/urinary system phenotype; skeleton phenotype; respiratory 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); normal phenotype

Zebrafish Information Network

• Gene name: boc
• Affected structure: retinal ganglion cell
• Phenotype tag: abnormal
• Phenotype quality: misrouted

Gene ontology

• Biological process: cell adhesion;smoothened signaling pathway;axon guidance;positive regulation of myoblast differentiation;positive regulation of muscle cell differentiation
• Cellular component: nucleoplasm;plasma membrane;integral component of plasma membrane;axonal growth cone
• Molecular function: protein binding