BBIP1

BBSome interacting protein 1, the group of BBSome

Basic information

Region (hg38): 10:110898730-110919201

Previous symbols: [ "NCRNA00081" ]

Links

ENSG00000214413 ∙ NCBI:92482 ∙ OMIM:613605 ∙ HGNC:28093 ∙ Uniprot:A8MTZ0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Bardet-Biedl syndrome (Supportive), mode of inheritance: AR
• Bardet-Biedl syndrome 18 (Limited), mode of inheritance: AR
• Bardet-Biedl syndrome 18 (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Bardet-Biedl syndrome 18	AR	Endocrine	Medical management of obesity with melanocortin-4 receptor (MC4R) agonist (setmelanotide) may be beneficial	Gastrointestinal; Endocrine; Musculoskeletal; Neurologic; Ophthalmologic; Renal	24026985; 36356613

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BBIP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BBIP1 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				6		6
missense			34	2		36
nonsense			1			1
start loss						0
frameshift			10			10
inframe indel			2			2
splice donor/acceptor (+/-2bp)			2			2
splice region			3	1	1	5
non coding			1	4	2	7
Total	0	0	50	12	2

Variants in BBIP1

This is a list of pathogenic ClinVar variants found in the BBIP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-110900343-AAGTGCTCAGTTATCATTC-A		BBIP1-related disorder	Uncertain significance (Jan 26, 2024)
10-110900352-G-C		BBIP1-related disorder	Likely benign (Jan 09, 2024)
10-110900367-G-A			Uncertain significance (Apr 01, 2022)
10-110900375-C-T			Likely benign (May 10, 2024)
10-110900376-C-T		Bardet-Biedl syndrome 18 • BBIP1-related disorder	Uncertain significance (Dec 12, 2024)
10-110900377-G-A		BBIP1-related disorder	Uncertain significance (Mar 03, 2024)
10-110900378-T-C		BBIP1-related disorder	Likely benign (Aug 24, 2019)
10-110900385-T-C			Uncertain significance (Jan 21, 2020)
10-110900388-T-C			Uncertain significance (Jul 12, 2022)
10-110900390-T-TGCCA		Bardet-Biedl syndrome 18	Uncertain significance (Aug 03, 2022)
10-110900394-A-G		BBIP1-related disorder	Uncertain significance (Aug 15, 2022)
10-110900403-T-C			Uncertain significance (Apr 09, 2024)
10-110900404-G-C			Uncertain significance (Feb 24, 2022)
10-110900406-C-T		Bardet-Biedl syndrome 18 • BBIP1-related disorder	Uncertain significance (Apr 29, 2024)
10-110900417-C-T			Likely benign (Aug 22, 2022)
10-110900421-G-A			Uncertain significance (Mar 17, 2022)
10-110900422-C-G			Uncertain significance (Jul 18, 2024)
10-110900422-C-T			Uncertain significance (Jul 04, 2021)
10-110900422-CT-C			Uncertain significance (Nov 27, 2023)
10-110900426-T-C			Likely benign (Feb 19, 2023)
10-110900433-A-AT			Uncertain significance (Oct 13, 2022)
10-110900440-C-G			Uncertain significance (Feb 19, 2024)
10-110900443-GT-G			Uncertain significance (Oct 13, 2023)
10-110900450-CAG-C		Bardet-Biedl syndrome 18	Uncertain significance (Oct 21, 2021)
10-110900455-T-G			Uncertain significance (Oct 09, 2020)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BBIP1	protein_coding	protein_coding	ENST00000454061	4	20545

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00417	0.675	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.522	35	44.8	0.781	0.00000217	642
Missense in Polyphen		2	4.2348	0.47228		43
Synonymous	0.251	16	17.3	0.923	9.38e-7	195
Loss of Function	0.623	4	5.59	0.716	2.34e-7	90

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for primary cilia assembly and BBSome stability. Regulates cytoplasmic microtubule stability and acetylation. {ECO:0000269|Ref.4}.
• Disease: DISEASE: Bardet-Biedl syndrome 18 (BBS18) [MIM:615995]: A syndrome characterized by usually severe pigmentary retinopathy, early- onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease. {ECO:0000269|PubMed:24026985}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: BBSome-mediated cargo-targeting to cilium;Cargo trafficking to the periciliary membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Haploinsufficiency Scores

• ghis: 0.500

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bbip1
• Phenotype: growth/size/body region phenotype; 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); vision/eye 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); reproductive system phenotype

Zebrafish Information Network

• Gene name: bbip1
• Affected structure: Kupffer's vesicle
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

• Biological process: protein transport;cilium assembly;receptor localization to non-motile cilium
• Cellular component: cytoplasm;cytosol;BBSome
• Molecular function: protein binding