CIBAR1 (CBY1 interacting BAR domain containing 1)

Gene

• Entrez ID: 137392
• Gene name: CBY1 interacting BAR domain containing 1
• Gene symbol: CIBAR1
• Synonyms (NCBI Gene): BARMR1, FAM92A, FAM92A1, PAPA9
• Chromosome: 8
• Chromosome location: 8q22.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs368652620	C>G,T	Pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant, genic downstream transcript variant

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	25416956, 27528616, 32296183, 33961781
GO:0005543	Function	Phospholipid binding	IDA	30404948
GO:0005634	Component	Nucleus	IDA	17646714, 30404948
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	27528616, 30404948
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	30404948
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005814	Component	Centriole	IDA	27528616
GO:0005814	Component	Centriole	IEA
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0007007	Process	Inner mitochondrial membrane organization	IMP	30404948
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0016020	Component	Membrane	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030061	Component	Mitochondrial crista	IMP	30404948
GO:0030154	Process	Cell differentiation	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0035108	Process	Limb morphogenesis	IMP	30395363
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	ISS
GO:0036064	Component	Ciliary basal body	IBA
GO:0042995	Component	Cell projection	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	ISS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	IMP	27528616
GO:0060271	Process	Cilium assembly	ISS
GO:0061024	Process	Membrane organization	IDA	30404948
GO:0097227	Component	Sperm annulus	ISS
GO:0097546	Component	Ciliary base	IDA	27528616
GO:0097749	Process	Membrane tubulation	IMP	30404948

Other IDs

• MIM: 617273
• HGNC: 30452
• e!Ensembl: ENSG00000188343

Protein

• UniProt ID: A1XBS5
• Protein name: CBY1-interacting BAR domain-containing protein 1
• Protein function: Plays a critical role in regulating mitochondrial ultrastructure and function by maintaining the integrity of mitochondrial morphology, particularly the organization of cristae (PubMed:30404948). Preferentially binds to negatively charged phosph
• PDB: 8CEG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06730	FAM92	1 → 219	FAM92 protein	Family

• Sequence:

  MMRRTLENRNAQTKQLQTAVSNVEKHFGELCQIFAAYVRKTARLRDKADLLVNEINAYAA
  TETPHLKLGLMNFADEFAKLQDYRQAEVERLEAKVVEPLKTYGTIVKMKRDDLKATLTAR
  NREAKQLTQLERTRQRNPSDRHVISQAETELQRAAMDASRTSRHLEETINNFERQKMKDI
  KTIFSEFITIEMLFHGKALEVYTAAYQNIQNIDEDEDLEVFRNSLYAPDYSSRLDIVRAN
  SKSPLQRSLSAKCVSGTGQVSTCRLRKDQQAEDDEDDELDVTEEENFLK

• Sequence length: 289

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Polydactyly, postaxial, type A9	Pathogenic; Likely pathogenic	rs373275688, rs762464497, rs368652620	RCV002251242 RCV003148501 RCV000723368	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial polydactyly type A	Pathogenic	rs368652620	RCV001034603	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CIBAR1-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL, TYPE A1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYNDACTYLY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Cervix carcinoma	Cervix carcinoma	BEFREE	27798880		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	30395363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	CTD_human_DG	30395363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	38158857	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	30753380	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	19059705		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24378410	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19059705, 27798880		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	BEFREE	31115189		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	Pubtator	31115189	Associate	★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	BEFREE	30395363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYDACTYLY, POSTAXIAL	Polydactyly	CTD_human_DG	30395363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polydactyly, Postaxial, Type A1	Polydactyly	CTD_human_DG	30395363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polysyndactyly	Polysyndactyly	CTD_human_DG	30395363		★☆☆☆☆ Found in Text Mining only
Postaxial polydactyly type A	Polydactyly	BEFREE	30395363		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial polydactyly type A	Polydactyly	CTD_human_DG	30395363		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Postaxial polydactyly type A	Polydactyly	ORPHANET_DG	30395363		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POSTAXIAL POLYDACTYLY, TYPE B	Postaxial polydactyly	CTD_human_DG	30395363		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	37298233	Associate	★☆☆☆☆ Found in Text Mining only
Pyogenic Arthritis, Pyoderma Gangrenosum and Acne	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne	BEFREE	30395363		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	19059705		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	19059705		★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	CTD_human_DG	30395363		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only