CFDP1 (craniofacial development protein 1)

Gene

• Entrez ID: 10428
• Gene name: Craniofacial development protein 1
• Gene symbol: CFDP1
• Synonyms (NCBI Gene): BCNT, BUCENTAUR, CENP-29, CP27, SWC5, Yeti, p97
• Chromosome: 16
• Chromosome location: 16q23.1

miRNA

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
MIRT728210	hsa-miR-30c-5p	HITS-CLIP	22473208
MIRT728208	hsa-miR-30d-5p	HITS-CLIP	22473208
MIRT728209	hsa-miR-30e-5p	HITS-CLIP	22473208
MIRT887368	hsa-miR-106a	CLIP-seq
MIRT887369	hsa-miR-106b	CLIP-seq
MIRT887370	hsa-miR-1257	CLIP-seq
MIRT887371	hsa-miR-17	CLIP-seq
MIRT887372	hsa-miR-20a	CLIP-seq
MIRT887373	hsa-miR-20b	CLIP-seq
MIRT887374	hsa-miR-23a	CLIP-seq
MIRT887375	hsa-miR-23b	CLIP-seq
MIRT887376	hsa-miR-23c	CLIP-seq
MIRT887377	hsa-miR-27a	CLIP-seq
MIRT887378	hsa-miR-27b	CLIP-seq
MIRT887379	hsa-miR-30a	CLIP-seq
MIRT887380	hsa-miR-30b	CLIP-seq
MIRT887381	hsa-miR-30c	CLIP-seq
MIRT887382	hsa-miR-30d	CLIP-seq
MIRT887383	hsa-miR-30e	CLIP-seq
MIRT887384	hsa-miR-3159	CLIP-seq
MIRT887385	hsa-miR-320e	CLIP-seq
MIRT887386	hsa-miR-3607-3p	CLIP-seq
MIRT887387	hsa-miR-3609	CLIP-seq
MIRT887388	hsa-miR-4796-3p	CLIP-seq
MIRT887389	hsa-miR-519d	CLIP-seq
MIRT887390	hsa-miR-548a-5p	CLIP-seq
MIRT887391	hsa-miR-548ab	CLIP-seq
MIRT887392	hsa-miR-548ah	CLIP-seq
MIRT887393	hsa-miR-548ak	CLIP-seq
MIRT887394	hsa-miR-548b-5p	CLIP-seq
MIRT887395	hsa-miR-548c-5p	CLIP-seq
MIRT887396	hsa-miR-548d-5p	CLIP-seq
MIRT887397	hsa-miR-548h	CLIP-seq
MIRT887398	hsa-miR-548i	CLIP-seq
MIRT887399	hsa-miR-548j	CLIP-seq
MIRT887400	hsa-miR-548n	CLIP-seq
MIRT887401	hsa-miR-548t	CLIP-seq
MIRT887402	hsa-miR-548w	CLIP-seq
MIRT887403	hsa-miR-548y	CLIP-seq
MIRT887404	hsa-miR-559	CLIP-seq
MIRT887405	hsa-miR-93	CLIP-seq
MIRT887374	hsa-miR-23a	CLIP-seq
MIRT887375	hsa-miR-23b	CLIP-seq
MIRT887376	hsa-miR-23c	CLIP-seq
MIRT887379	hsa-miR-30a	CLIP-seq
MIRT887380	hsa-miR-30b	CLIP-seq
MIRT887381	hsa-miR-30c	CLIP-seq
MIRT887382	hsa-miR-30d	CLIP-seq
MIRT887383	hsa-miR-30e	CLIP-seq
MIRT887384	hsa-miR-3159	CLIP-seq
MIRT887385	hsa-miR-320e	CLIP-seq
MIRT1546423	hsa-miR-3940-3p	CLIP-seq
MIRT1963206	hsa-miR-3183	CLIP-seq
MIRT1963207	hsa-miR-342-3p	CLIP-seq
MIRT1963208	hsa-miR-4477b	CLIP-seq
MIRT1963209	hsa-miR-4700-3p	CLIP-seq
MIRT1963210	hsa-miR-4723-3p	CLIP-seq
MIRT1963211	hsa-miR-4729	CLIP-seq
MIRT1963212	hsa-miR-579	CLIP-seq
MIRT1963213	hsa-miR-664	CLIP-seq
MIRT887374	hsa-miR-23a	CLIP-seq
MIRT887375	hsa-miR-23b	CLIP-seq
MIRT887376	hsa-miR-23c	CLIP-seq
MIRT887379	hsa-miR-30a	CLIP-seq
MIRT887380	hsa-miR-30b	CLIP-seq
MIRT887381	hsa-miR-30c	CLIP-seq
MIRT887382	hsa-miR-30d	CLIP-seq
MIRT887383	hsa-miR-30e	CLIP-seq
MIRT887384	hsa-miR-3159	CLIP-seq
MIRT887385	hsa-miR-320e	CLIP-seq
MIRT2427319	hsa-miR-3668	CLIP-seq
MIRT2427320	hsa-miR-376c	CLIP-seq
MIRT2427321	hsa-miR-4662a-3p	CLIP-seq
MIRT2427322	hsa-miR-758	CLIP-seq
MIRT2502230	hsa-miR-1245b-3p	CLIP-seq
MIRT2502231	hsa-miR-1272	CLIP-seq
MIRT2502232	hsa-miR-141	CLIP-seq
MIRT2502233	hsa-miR-200a	CLIP-seq
MIRT887374	hsa-miR-23a	CLIP-seq
MIRT887375	hsa-miR-23b	CLIP-seq
MIRT887376	hsa-miR-23c	CLIP-seq
MIRT887377	hsa-miR-27a	CLIP-seq
MIRT887378	hsa-miR-27b	CLIP-seq
MIRT887379	hsa-miR-30a	CLIP-seq
MIRT887380	hsa-miR-30b	CLIP-seq
MIRT887381	hsa-miR-30c	CLIP-seq
MIRT887382	hsa-miR-30d	CLIP-seq
MIRT887383	hsa-miR-30e	CLIP-seq
MIRT2502234	hsa-miR-3153	CLIP-seq
MIRT887384	hsa-miR-3159	CLIP-seq
MIRT2502235	hsa-miR-3200-3p	CLIP-seq
MIRT887385	hsa-miR-320e	CLIP-seq
MIRT887386	hsa-miR-3607-3p	CLIP-seq
MIRT2427319	hsa-miR-3668	CLIP-seq
MIRT2427320	hsa-miR-376c	CLIP-seq
MIRT2502236	hsa-miR-4261	CLIP-seq
MIRT2502237	hsa-miR-4646-5p	CLIP-seq
MIRT2427321	hsa-miR-4662a-3p	CLIP-seq
MIRT2502238	hsa-miR-4668-5p	CLIP-seq
MIRT2502239	hsa-miR-4731-5p	CLIP-seq
MIRT2502240	hsa-miR-539	CLIP-seq
MIRT2427322	hsa-miR-758	CLIP-seq
MIRT887374	hsa-miR-23a	CLIP-seq
MIRT887375	hsa-miR-23b	CLIP-seq
MIRT887376	hsa-miR-23c	CLIP-seq
MIRT887379	hsa-miR-30a	CLIP-seq
MIRT887380	hsa-miR-30b	CLIP-seq
MIRT887381	hsa-miR-30c	CLIP-seq
MIRT887382	hsa-miR-30d	CLIP-seq
MIRT887383	hsa-miR-30e	CLIP-seq
MIRT2502234	hsa-miR-3153	CLIP-seq
MIRT887384	hsa-miR-3159	CLIP-seq
MIRT2502235	hsa-miR-3200-3p	CLIP-seq
MIRT887385	hsa-miR-320e	CLIP-seq
MIRT2427319	hsa-miR-3668	CLIP-seq
MIRT2427320	hsa-miR-376c	CLIP-seq
MIRT2502236	hsa-miR-4261	CLIP-seq
MIRT2502237	hsa-miR-4646-5p	CLIP-seq
MIRT2427321	hsa-miR-4662a-3p	CLIP-seq
MIRT2502238	hsa-miR-4668-5p	CLIP-seq
MIRT2502239	hsa-miR-4731-5p	CLIP-seq
MIRT2427322	hsa-miR-758	CLIP-seq

Gene ontology (GO)

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
GO:0007155	Process	Cell adhesion	IEA
GO:0008360	Process	Regulation of cell shape	IEA
GO:0042127	Process	Regulation of cell population proliferation	IEA
GO:0044346	Process	Fibroblast apoptotic process	IEA
GO:2000270	Process	Negative regulation of fibroblast apoptotic process	IEA

Other IDs

• MIM: 608108
• HGNC: 1873
• e!Ensembl: ENSG00000153774

Protein

• UniProt ID: 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
  LEKSKLDWESFKEEEGIGEELAIHNRGKEGYIERKAFLDRVDHRQFEIERDLRLSKMKP

• Sequence length: 299

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN ANEURYSM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CAROTID ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CFDP1-related disorder	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	25830243		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	10845931		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	10529437		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	21781992, 24885147		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	27515058		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24397353	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	GWASDB_DG	23152477		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	10563779, 9258449		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35861040	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	GWASCAT_DG	30510157		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
cervical cancer	Cervical Cancer	BEFREE	16905170		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	26655237		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	16905170, 25830243		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30804561, 30940143		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	23152477, 26276885		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	23152477, 25093840, 26276885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	25093840	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	28714974, 29212778, 30940143		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	23152477, 26276885		★☆☆☆☆ Found in Text Mining only
Craniofacial Abnormalities	Craniofacial abnormalities	Pubtator	28367969	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	20116073		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	28367969		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28367969	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	21061152	Associate	★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	18260132, 21781992, 22579784, 24196964, 26112410, 28303975, 28819009		★☆☆☆☆ Found in Text Mining only
INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA	Inclusion Body Myopathy With Paget Disease And Frontotemporal Dementia	BEFREE	18260132, 20512113, 21781992, 22579784, 24878061, 28303975, 29804830		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1	Inclusion Body Myopathy With Paget Disease With Or Without Frontotemporal Dementia	BEFREE	28939772		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	26112410		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	20414249		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	30664664		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1651587, 21383145, 24878061, 25685910, 26555175, 27086594, 28451587, 28819009, 28847819, 29211715, 30830772, 31316150, 7927871		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	16905170		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	30664664		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	10563779, 2419904, 28380302, 3754536		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	GWASCAT_DG	27182965, 27322543		★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GWASCAT_DG	29273593		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Moyamoya disease 1	Moyamoya disease	GWASCAT_DG	29273593		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	28843399, 28878026, 30954557		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	21781992, 22579784, 24196964, 26112410, 27753622, 28303975, 28512218, 28819009		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25830243, 28380302, 28819009, 6326658, 7927871		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30584095, 31701538		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	24878061, 31316150, 31550150		★☆☆☆☆ Found in Text Mining only
Osteitis Deformans	Paget disease	BEFREE	18260132, 21781992, 22579784, 24196964, 26112410, 28303975, 28819009, 30335548		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31917448, 32907841	Associate	★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	18260132, 21781992, 22579784, 24196964, 26112410, 28303975, 28819009		★☆☆☆☆ Found in Text Mining only
Pre B-cell acute lymphoblastic leukemia	B-cell Lymphoma	BEFREE	28843399		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	28843399		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	28451587		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	20116073		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	35308900	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	24397353		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	26655237		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	31705877		★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	26471729		★☆☆☆☆ Found in Text Mining only