BRINP1

BMP/retinoic acid inducible neural specific 1

Basic information

Region (hg38): 9:119153458-119369435

Previous symbols: [ "DBCCR1", "DBC1" ]

Links

ENSG00000078725 ∙ NCBI:1620 ∙ OMIM:602865 ∙ HGNC:2687 ∙ Uniprot:O60477 ∙ 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 BRINP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BRINP1 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					2	2
missense			2	2	1	5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	2	2	3

Variants in BRINP1

This is a list of pathogenic ClinVar variants found in the BRINP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
9-119167095-T-C		not specified	Uncertain significance (Oct 26, 2021)
9-119167448-G-A			Benign (Apr 16, 2018)
9-119167654-C-T			Benign (Aug 01, 2018)
9-119167743-C-T		not specified	Uncertain significance (Aug 10, 2021)
9-119168138-C-T			Likely benign (Aug 16, 2018)
9-119208818-G-A			Likely benign (Jun 09, 2018)
9-119214031-G-A			Benign (May 16, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BRINP1	protein_coding	protein_coding	ENST00000265922	7	216010

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.993	0.00749	125740	0	8	125748	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.42	383	470	0.816	0.0000304	5057
Missense in Polyphen		117	167.23	0.69965		1747
Synonymous	-0.791	195	181	1.07	0.0000115	1438
Loss of Function	4.61	4	32.3	0.124	0.00000163	346

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000868	0.0000868
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Inhibits cell proliferation by negative regulation of the G1/S transition. Mediates cell death which is not of the classical apoptotic type and regulates expression of components of the plasminogen pathway. {ECO:0000269|PubMed:11420708, ECO:0000269|PubMed:14712213, ECO:0000269|PubMed:16369496}.
• Pathway: AndrogenReceptor;TNFalpha (Consensus)

Recessive Scores

• pRec: 0.136

Intolerance Scores

• rvis_EVS: -0.93
• rvis_percentile_EVS: 9.72

Haploinsufficiency Scores

• pHI: 0.802
• hipred: Y
• hipred_score: 0.819
• ghis: 0.604

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Brinp1
• 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); growth/size/body region phenotype; cellular phenotype

Gene ontology

• Biological process: behavioral fear response;cell cycle arrest;short-term memory;cell death;social behavior;exploration behavior;maternal behavior;positive regulation of neuron differentiation;negative regulation of cell cycle;negative regulation of mitotic cell cycle;negative regulation of neurogenesis;cellular response to retinoic acid;vocalization behavior
• Cellular component: cytoplasm;endoplasmic reticulum;dendrite;neuronal cell body
• Molecular function: protein binding