Gene Gene information from NCBI Gene database.
Entrez ID 10428
Gene name Craniofacial development protein 1
Gene symbol CFDP1
Synonyms (NCBI Gene)
BCNTBUCENTAURCENP-29CP27SWC5Yetip97
Chromosome 16
Chromosome location 16q23.1
miRNA miRNA information provided by mirtarbase database.
127
miRTarBase ID miRNA Experiments Reference
MIRT725577 hsa-miR-27a-3p HITS-CLIP 19536157
MIRT725576 hsa-miR-27b-3p HITS-CLIP 19536157
MIRT725575 hsa-miR-513a-5p HITS-CLIP 19536157
MIRT728212 hsa-miR-30a-5p HITS-CLIP 22473208
MIRT728211 hsa-miR-30b-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0000775 Component Chromosome, centromeric region IEA
GO:0000776 Component Kinetochore IEA
GO:0000812 Component Swr1 complex IBA
GO:0005694 Component Chromosome IEA
GO:0006338 Process Chromatin remodeling IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608108 1873 ENSG00000153774
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UEE9
Protein name Craniofacial development protein 1 (Bucentaur)
Protein function May play a role during embryogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07572 BCNT 221 295 Bucentaur or craniofacial development Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:9602175}.
Sequence
MEEFDSEDFSTSEEDEDYVPSGGEYSEDDVNELVKEDEVDGEEQTQKTQGKKRKAQSIPA
RKRRQGGLSLEEEEEEDANSESEGSSSEEEDDAAEQEKGIGSEDARKKKEDELWASFLND
VGPKSKVPPSTQVKKGEETEETSSSKLLVKAEELEKPKETEKVKITKVFDFAGEEVRVTK
EVDATSKEAKSFFKQNEKEKPQANVPSALPSLPAGSGLKRSSGMSSLLGKIGAKKQKMST
LEKSKLDWESFKEEEGIGEELAIHNRGKEGYIERKAFLDRVDHRQFEIERDLRLS
KMKP
Sequence length 299
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
8
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CFDP1-related disorder Uncertain significance; Likely benign rs2507589670, rs754680010, rs371488344, rs16963331, rs75511445, rs149995941, rs370354614 RCV003414474
RCV003899483
RCV003951713
RCV003914315
RCV003971695
RCV003971781
RCV003967115
Colon adenocarcinoma Uncertain significance rs202002820 RCV005939131
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 24397353
Carcinoma Hepatocellular Stimulate 35861040
Coronary Artery Disease Associate 25093840
Craniofacial Abnormalities Associate 28367969
Developmental Disabilities Associate 28367969
Encephalitis Associate 21061152
Neoplasms Associate 35861040
Pancreatic Neoplasms Associate 31917448, 32907841
Pulmonary Disease Chronic Obstructive Associate 35308900
Substance Related Disorders Associate 29455858