BAG1

BAG cochaperone 1, the group of BAG cochaperones

Basic information

Region (hg38): 9:33247820-33264720

Links

ENSG00000107262 ∙ NCBI:573 ∙ OMIM:601497 ∙ HGNC:937 ∙ Uniprot:Q99933 ∙ 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 BAG1 gene.

• not_specified (48 variants)
• not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BAG1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000004323.6. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			46	3	1	50
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3			3
Total	0	0	49	3	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BAG1	protein_coding	protein_coding	ENST00000472232	7	16944

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000653	0.723	125627	0	121	125748	0.000481

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.521	198	178	1.11	0.00000847	2215
Missense in Polyphen		36	43.398	0.82953		594
Synonymous	-0.0410	72	71.6	1.01	0.00000351	696
Loss of Function	1.11	10	14.6	0.685	6.20e-7	187

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000277	0.000277
Ashkenazi Jewish	0.00	0.00
East Asian	0.000710	0.000707
Finnish	0.000311	0.000277
European (Non-Finnish)	0.0000794	0.0000791
Middle Eastern	0.000710	0.000707
South Asian	0.00281	0.00281
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Co-chaperone for HSP70 and HSC70 chaperone proteins. Acts as a nucleotide-exchange factor (NEF) promoting the release of ADP from the HSP70 and HSC70 proteins thereby triggering client/substrate protein release. Nucleotide release is mediated via its binding to the nucleotide-binding domain (NBD) of HSPA8/HSC70 where as the substrate release is mediated via its binding to the substrate-binding domain (SBD) of HSPA8/HSC70 (PubMed:27474739, PubMed:9873016, PubMed:24318877). Inhibits the pro-apoptotic function of PPP1R15A, and has anti-apoptotic activity (PubMed:12724406). Markedly increases the anti-cell death function of BCL2 induced by various stimuli (PubMed:9305631). {ECO:0000269|PubMed:12724406, ECO:0000269|PubMed:24318877, ECO:0000269|PubMed:27474739, ECO:0000269|PubMed:9305631, ECO:0000269|PubMed:9873016}.
• Pathway: Protein processing in endoplasmic reticulum - Homo sapiens (human);Androgen receptor signaling pathway;Regulation of HSF1-mediated heat shock response;Cellular responses to stress;AndrogenReceptor;Cellular responses to external stimuli;Cellular response to heat stress;AP-1 transcription factor network (Consensus)

Recessive Scores

• pRec: 0.435

Intolerance Scores

• loftool: 0.260
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Haploinsufficiency Scores

• pHI: 0.267
• ghis: 0.421

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.959

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bag1
• Phenotype: liver/biliary system phenotype; neoplasm; 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); hematopoietic system phenotype

Gene ontology

• Biological process: apoptotic process;cell surface receptor signaling pathway;negative regulation of apoptotic process;regulation of catalytic activity;chaperone cofactor-dependent protein refolding;regulation of cellular response to heat
• Cellular component: nucleus;cytoplasm;cytosol
• Molecular function: adenyl-nucleotide exchange factor activity;protein binding;ubiquitin protein ligase binding;chaperone binding