BOC

protein-coding

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

Gene summary

The protein encoded by this gene is a member of the immunoglobulin/fibronectin type III repeat family. It is a component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells, and promotes myogenic differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2014]

MANE transcript

NM_001378074.1

Inheritance

—

ClinVar variants

U:201B:21

Top phenotype

Holoprosencephaly sequence

gnomAD constraint

pLI —, LoF o/e 0.4

Max pathogenic AF

—

Genomic locus

chr3:113,211,003-113,287,459

External References & Databases

Ensembl (ENSG00000144857)

Transcript & Mutation Effects

hg38 • Region Span ~76.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to BOC variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 196

not providedTotal: 12

Holoprosencephaly sequenceTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001378074.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			3 clinvar	4 clinvar	3 clinvar	10
missense			195 clinvar	11 clinvar	3 clinvar	209
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	201	15	6	222

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 133 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001378074.1	RefSeq	NP_001365003.1	18	MANE Select
ENST00000682979.1	Ensembl	ENSP00000507783.1	18	MANE Select
NM_001301861.2	RefSeq	NP_001288790.1	18	Standard
NM_001301867.2	RefSeq	NP_001288796.1	2	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
boc	Danio rerio	Structure: retinal ganglion cell Quality: misrouted abnormal

Gene / Model

Organism

Observed Phenotype

boc

Danio rerio

Structure: retinal ganglion cell

Quality: misrouted

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Axon guidance - Homo sapiens (human)
Hedgehog signaling pathway - Homo sapiens (human)
HH-Ncore
Ectoderm Differentiation
Hedgehog ,on, state

Biological Process

cell adhesion
smoothened signaling pathway
axon guidance
positive regulation of myoblast differentiation
positive regulation of muscle cell differentiation

Molecular Function

protein binding

Cellular Component

nucleoplasm
plasma membrane
integral component of plasma membrane
axonal growth cone

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000495514
Coding exons: 18
Length: 76454
Individuals with no LoFs: 125697
Homozygous LoFs: 0
Heterozygous LoFs: 51
Defined: 125748
p: 0.000203

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.19	631	721	0.875	0.0000461	7196
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00026	0.00026	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00033	0.00033	rare
Finnish	0.000093	0.000092	rare
European (Non-Finnish)	0.00021	0.00020	rare
South Asian	0.00021	0.00020	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

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.;

Recessive Scores

pRec: 0.993

Intolerance Scores

LoFtool: 0.599
RVIS EVS: -1.63
RVIS percentile EVS: 2.88

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.956

Gene Damage Prediction

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