Oral-facial-digital syndrome 1

AltitudeomicsDB
Protein Official symbol OFD1
Aliases OFD1 CXorf5
Chromosomal Location  X
Length 1012
Uniprot ID O75665
EC number None
Protein family Information(Pfam) PF16045;
PDB id None
InterPro ID IPR006594;
dbSNP rs312262812 rs312262814 rs312262827 rs886039860 rs122460150

Protein Protein Interaction

0%
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AltitudeomicsDB
Protein 1 Protein 2 Combine Score
CEP290 TMEM216 0.989
CEP290 MKS1 0.987
TMEM216 MKS1 0.986
OFD1 C2CD3 0.985
CEP290 CEP131 0.981
CEP290 SDCCAG8 0.981
SDCCAG8 OFD1 0.979
CEP290 PCM1 0.978
CEP290 OFD1 0.976
OFD1 CEP135 0.975
CEP290 CEP135 0.975
CEP131 PCM1 0.973
CEP131 OFD1 0.973
PCM1 CEP72 0.972
MKS1 OFD1 0.97
OFD1 CEP72 0.97
TMEM216 OFD1 0.97
OFD1 PCM1 0.97
OFD1 SCLT1 0.969
C2CD3 SCLT1 0.968
MKS1 SDCCAG8 0.966
CEP131 CEP72 0.958
CEP290 SCLT1 0.955
SDCCAG8 PCM1 0.952
TMEM216 C2CD3 0.952
CEP290 CEP72 0.95
MKS1 C2CD3 0.949
TMEM216 SDCCAG8 0.948
MKS1 SCLT1 0.948
PCM1 CEP135 0.947
SDCCAG8 CEP135 0.946
CEP290 C2CD3 0.945
SCLT1 CEP135 0.945
C2CD3 CEP72 0.938
CEP131 CEP135 0.935
CEP131 SDCCAG8 0.93
MKS1 CEP135 0.929
CEP131 C2CD3 0.923
TMEM216 CEP131 0.921
CEP72 CEP135 0.92
TMEM216 SCLT1 0.919
CEP131 MKS1 0.915
SDCCAG8 CEP72 0.913
SCLT1 CEP72 0.912
C2CD3 CEP135 0.911
TMEM216 CEP72 0.909
PCM1 SCLT1 0.906
CEP131 SCLT1 0.905
MKS1 CEP72 0.905
C2CD3 PCM1 0.902
SDCCAG8 SCLT1 0.902
SDCCAG8 C2CD3 0.901
MKS1 PCM1 0.901
TMEM216 CEP135 0.9
TMEM216 PCM1 0.9
Gene Ontology Semantic Similarity
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# 80184 (CEP290) 51259 (TMEM216) 8481 (OFD1) 10806 (SDCCAG8) 22994 (CEP131) 5108 (PCM1) 54903 (MKS1) 26005 (C2CD3) 55722 (CEP72) 9662 (CEP135)
80184 (CEP290) 1.00 1.00 0.87 1.00 0.83 1.00 1.00 1.00 1.00 0.91
51259 (TMEM216) 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00
8481 (OFD1) 0.87 1.00 1.00 1.00 0.77 0.87 1.00 1.00 1.00 0.81
10806 (SDCCAG8) 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00
22994 (CEP131) 0.83 1.00 0.77 1.00 1.00 0.83 1.00 1.00 1.00 0.80
5108 (PCM1) 1.00 1.00 0.87 1.00 0.83 1.00 1.00 1.00 1.00 0.91
54903 (MKS1) 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00
26005 (C2CD3) 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00
55722 (CEP72) 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00 1.00
9662 (CEP135) 0.91 1.00 0.81 1.00 0.80 0.91 1.00 1.00 1.00 1.00
Association with High Altitude
Protein Official symbol Source Organism Tissue of Expression Level of hypoxia Altitude Duration of experiment Level of expression Fold change Experiment details geographical location ethnicity of the patients Control group Control (Fold change) Reference (PMID)
OFD1 Human Blood - 3650 m 48 hours downregulated 0.642 Microarray Himalayas Indians 1 HAPE Pateints Vs Normal http://medind.nic.in/iab/t12/i1/iabt12i1p1.pdf
Association with TF
TF TF Entrez Gene Gene Entrez Type PMID Database
POU2F2 5452 OFD1 8481 distal 22955619 TRANSFAC
CEBPB 1051 OFD1 8481 distal 22955619 TRANSFAC
TBP 6908 OFD1 8481 distal 22955619 TRANSFAC
SP1 6667 OFD1 8481 distal 22955619 TRANSFAC
MEF2C 4208 OFD1 8481 distal 22955619 TRANSFAC
RAD21 5885 OFD1 8481 distal 22955619 TRANSFAC
BCL11A 53335 OFD1 8481 distal 22955619 TRANSFAC
EBF1 1879 OFD1 8481 distal 22955619 TRANSFAC
EP300 2033 OFD1 8481 distal 22955619 TRANSFAC
NFKB1 4790 OFD1 8481 distal 22955619 TRANSFAC
MEF2A 4205 OFD1 8481 distal 22955619 TRANSFAC
CHD2 1106 OFD1 8481 distal 22955619 TRANSFAC
SPI1 6688 OFD1 8481 distal 22955619 TRANSFAC
IRF4 3662 OFD1 8481 distal 22955619 TRANSFAC
BRCA1 672 OFD1 8481 proximal_filtered 22955619 TRANSFAC
ZBTB33 10009 OFD1 8481 proximal_filtered 22955619 TRANSFAC
Association with miRNA
miRTarBase ID miRNA Species (miRNA) Protein Official Symbol Human Entrez ID Species (Target Gene) Experiments Support Type References (PMID)
MIRT029155 hsa-miR-26b-5p Homo sapiens OFD1 8481 Homo sapiens Microarray Functional MTI (Weak) 19088304
MIRT050901 hsa-miR-17-5p Homo sapiens OFD1 8481 Homo sapiens CLASH Functional MTI (Weak) 23622248
Gene Ontology
ID GO ID GO Term GO Type
8481 GO:0043014 peptidoglycan binding GOTERM_MF_DIRECT
8481 GO:0036064 ciliary basal body GOTERM_CC_DIRECT
8481 GO:0005814 centriole GOTERM_CC_DIRECT
8481 GO:0007099 centriole replication GOTERM_BP_DIRECT
8481 GO:0005634 nucleus GOTERM_CC_DIRECT
8481 GO:0060271 cilium morphogenesis GOTERM_BP_DIRECT
8481 GO:0042802 identical protein binding GOTERM_MF_DIRECT
8481 GO:0005515 protein binding GOTERM_MF_DIRECT
8481 GO:0016020 membrane GOTERM_CC_DIRECT
8481 GO:0060287 epithelial cilium movement involved in determination of left/right asymmetry GOTERM_BP_DIRECT
8481 GO:0043015 ATP-dependent protein binding GOTERM_MF_DIRECT
8481 GO:0005929 cilium GOTERM_CC_DIRECT
8481 GO:0015630 microtubule cytoskeleton GOTERM_CC_DIRECT
8481 GO:0034451 centriolar satellite GOTERM_CC_DIRECT
8481 GO:0090307 mitotic spindle assembly GOTERM_BP_DIRECT
8481 GO:0016021 integral component of membrane GOTERM_CC_DIRECT
8481 GO:0000086 G2/M transition of mitotic cell cycle GOTERM_BP_DIRECT
8481 GO:0007067 mitotic nuclear division GOTERM_BP_DIRECT
8481 GO:0005813 centrosome GOTERM_CC_DIRECT
8481 GO:0005829 cytosol GOTERM_CC_DIRECT
Pathways
Human Entrez ID KEGG ID KEGG Term
Association with Disease
Protein Official Symbol Human Entrez ID Disease Name Disease Id Disease Semantic Type Semantic score DSI DPI Disease Type
OFD1 8481 Ciliary Motility Disorders C0008780 Disease or Syndrome 0.3 0.547 0.724 group
OFD1 8481 Oto-Palato-digital syndrome type 1 C0265251 Disease or Syndrome 0.3 0.547 0.724 disease
OFD1 8481 RP23 gene C1419610 Disease or Syndrome 0.4 0.547 0.724 disease
OFD1 8481 SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) C1846175 Disease or Syndrome 0.43 0.547 0.724 disease
OFD1 8481 Orofaciodigital syndrome type1 C2931426 Disease or Syndrome 0.56 0.547 0.724 disease
OFD1 8481 JOUBERT SYNDROME 10 (disorder) C2749019 Disease or Syndrome 0.63 0.547 0.724 disease
OFD1 8481 Hydrocephalus C0020255 Disease or Syndrome 0.41 0.547 0.724 disease
OFD1 8481 Intellectual Disability C3714756 Mental or Behavioral Dysfunction 0.41 0.547 0.724 group
OFD1 8481 Arthrogryposis C0003886 Disease or Syndrome 0.3 0.547 0.724 disease
OFD1 8481 Congenital ocular coloboma (disorder) C0009363 Congenital Abnormality 0.3 0.547 0.724 disease
OFD1 8481 Osteogenesis Imperfecta C0029434 Congenital Abnormality; Disease or Syndrome 0.31 0.547 0.724 disease
OFD1 8481 Cystic Kidney Diseases C1691228 Disease or Syndrome 0.31 0.547 0.724 group
OFD1 8481 Ciliopathies C4277690 Congenital Abnormality 0.34 0.547 0.724 group
OFD1 8481 Polydactyly C0152427 Congenital Abnormality 0.4 0.547 0.724 disease
OFD1 8481 OROFACIODIGITAL SYNDROME VI C2745997 Disease or Syndrome 0.3 0.547 0.724 disease
OFD1 8481 Retinitis Pigmentosa C0035334 Disease or Syndrome 0.4 0.547 0.724 disease
OFD1 8481 Polynesian Bronchiectasis C4317124 Disease or Syndrome 0.3 0.547 0.724 disease
OFD1 8481 Kartagener Syndrome C0022521 Disease or Syndrome 0.3 0.547 0.724 disease
OFD1 8481 Orofaciodigital Syndrome I C1510460 Disease or Syndrome 0.66 0.547 0.724 disease
Association with Drug
Protein Official Symbol Human Entrez ID drug_claim_primary_name drug_name drug_chembl_id interaction_types