BCAP29

B cell receptor associated protein 29

Basic information

Region (hg38): 7:107580246-107629170

Links

ENSG00000075790

∙ NCBI:55973 ∙ OMIM:619612 ∙ HGNC:24131 ∙ Uniprot:Q9UHQ4 ∙ 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 BCAP29 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCAP29 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			1 clinvar			1
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	0	0

Variants in BCAP29

This is a list of pathogenic ClinVar variants found in the BCAP29 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-107580838-C-G		not specified	Uncertain significance (Jun 21, 2021)	2233901

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BCAP29	protein_coding	protein_coding	ENST00000379119	8	49194

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.256	0.743	125369	11	361	125741	0.00148

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.317	183	171	1.07	0.00000809	2305
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0182	0.0171
Ashkenazi Jewish	0.00210	0.00189
East Asian	0.000390	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000386	0.000378
Middle Eastern	0.000390	0.000381
South Asian	0.000226	0.000196
Other	0.000846	0.000815

dbNSFP

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

Haploinsufficiency Scores

pHI: 0.0874
hipred: N
hipred_score: 0.314
ghis: 0.583

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.731

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Bcap29
Phenotype

Gene ontology

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
Molecular function