OFD1 (GeneID: 8481) | Homo sapiens
Description: OFD1, centriole and centriolar satellite protein [Source:HGNC Symbol;Acc:HGNC:2567]
Synonyms: RP23, 71-7A, JBTS10, SGBS2, CXorf5
Other ID(s): HGNC:2567, ENSG00000046651
Protein Accession Numbers: NP_003602, ENST00000398395, ENST00000340096.6, NP_001317139, ENST00000380567, ENST00000340096, NP_001317138, ENST00000380550
Statistics: ClinVar(195) gnomAD(590) COSMIC(263) PTM(94)
ClinVar Pathogenicity of Variations help

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000340096 You are here now! ENST00000380550 ENST00000380567 ENST00000398395 NP_001317138 NP_001317139 NP_003602 You are here now!


import_contactsClinVar Data
Variation ID filter_list Allele ID filter_list RS Number filter_list Variant Type filter_list Record filter_list Alteration filter_list Clinicial Sig. filter_list Last Update filter_list Phenotypes filter_list Cytogenetic filter_list Review Status filter_list RCV Acc.N. filter_list

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF16045 LisH_2 LisH 74-101 CL0561 LisH Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Arthrogryposis Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
Ciliary Motility Disorders Respiratory Tract Diseases ; Otorhinolaryngologic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
Congenital ocular coloboma (disorder) Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
Hydrocephalus Nervous System Diseases ; 0.547 0.724
Kartagener Syndrome Respiratory Tract Diseases ; Otorhinolaryngologic Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
Osteogenesis Imperfecta Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ; 0.547 0.724
Retinitis Pigmentosa Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
Oto-Palato-digital syndrome type 1 Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
RP23 gene N/A 0.547 0.724
Orofaciodigital Syndrome I Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
Cystic Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.547 0.724
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
OROFACIODIGITAL SYNDROME VI Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
JOUBERT SYNDROME 10 (disorder) Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.547 0.724
Orofaciodigital syndrome type1 Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.547 0.724
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
Polynesian Bronchiectasis Respiratory Tract Diseases ; Otorhinolaryngologic Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.547 0.724
NO RESULT FOUND
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