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: gnomAD(122)
gnomAD Variants By Annotation

∙ 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 ENST00000604024 NP_079390


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 1290-1417 Mus musculus

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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