BCAP29

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			1 clinvar			1
missense			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	3	0	0	3

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 66 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018844.4	RefSeq	NP_061332.2	7	MANE Select
ENST00000005259.9	Ensembl	ENSP00000005259.4	7	MANE Select
NM_001008405.4	RefSeq	NP_001008405.1	8	Standard
NM_001363482.1	RefSeq	NP_001350411.1	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

osteoblast differentiation
intracellular protein transport
endoplasmic reticulum to Golgi vesicle-mediated transport
apoptotic process
protein localization to endoplasmic reticulum exit site

Cellular Component

endoplasmic reticulum membrane
integral component of plasma membrane
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000379119
Coding exons: 8
Length: 49194
Individuals with no LoFs: 125369
Homozygous LoFs: 11
Heterozygous LoFs: 361
Defined: 125741
p: 0.00148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.317	183	171	1.07	0.00000809	2305
Missense (PolyPhen)		58	55.77	1.04		767
Synonymous	-1.12	69	58.2	1.19	0.00000293	599
Loss of Function	2.83	4	16.3	0.245	6.85e-7	222

Population LoF Frequency

Population	CAF	p-value	Status
African	0.017	0.016	notable
Latino/Admixed American	0.00089	0.00087	rare
Ashkenazi Jewish	0.0021	0.0019	notable
East Asian	0.00039	0.00038	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00039	0.00038	rare
South Asian	0.00023	0.00020	rare
Other	0.00085	0.00081	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: May play a role in anterograde transport of membrane proteins from the endoplasmic reticulum to the Golgi. May be involved in CASP8-mediated apoptosis (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0818

Intolerance Scores

LoFtool: 0.190
RVIS EVS: 0.17
RVIS percentile EVS: 65.76

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.731

Gene Damage Prediction

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