CEP290 (GeneID: 80184) | Homo sapiens
Description: centrosomal protein 290 [Source:HGNC Symbol;Acc:HGNC:29021]
Synonyms: PHP6, JBTS5, 3H11Ag, rd16, MKS4, CT87, POC3, LCA10, BBS14, SLSN6
Other ID(s): HGNC:29021, ENSG00000198707
Protein Accession Numbers: ENST00000547691, ENST00000604024, ENST00000550962, ENST00000397838, ENST00000552810, ENST00000547926, ENST00000309041, NP_079390, ENST00000552770
Statistics: ClinVar(1137) gnomAD(1990) COSMIC(658) PTM(74)
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.
ENST00000309041 ENST00000397838 ENST00000547691 ENST00000547926 ENST00000550962 ENST00000552770 ENST00000552810 You are here now! ENST00000604024 NP_079390 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
PF16574 CEP209_CC5 Coiled-coil region of centrosome protein CE290 1289-1416 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Congenital ocular coloboma (disorder) Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.724
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.724
Meckel-Gruber syndrome N/A 0.546 0.724
Leber Congenital Amaurosis Eye Diseases ; 0.546 0.724
Renal dysplasia and retinal aplasia (disorder) Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.724
Bardet-Biedl Syndrome Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.724
Cystic Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.546 0.724
Arima syndrome Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.724
SENIOR-LOKEN SYNDROME 6 Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.724
JOUBERT SYNDROME 5 Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Pathological Conditions, Signs and Symptoms ; 0.546 0.724
LEBER CONGENITAL AMAUROSIS 10 (disorder) Eye Diseases ; 0.546 0.724
MECKEL SYNDROME, TYPE 4 Musculoskeletal Diseases ; Nervous System Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.546 0.724
BARDET-BIEDL SYNDROME 14 (disorder) Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.724
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.546 0.724
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.724
NO RESULT FOUND
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