RPGRIP1L (GeneID: 23322) | Homo sapiens
Description: RPGRIP1 like [Source:HGNC Symbol;Acc:HGNC:29168]
Synonyms: MKS5, CORS3, PPP1R134, JBTS7, NPHP8, FTM
Other ID(s): ENSG00000103494, HGNC:29168
Protein Accession Numbers: ENST00000566096, NP_056087, NP_001315351, ENST00000562588, ENST00000569716, ENST00000262135, ENST00000564374, NP_001317467, NP_001295263, ENST00000562230, ENST00000568653, ENST00000563746, NP_001315352, NP_001121369, ENST00000379925
Statistics: ClinVar(483) gnomAD(1104) COSMIC(438) PTM(14)
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.
ENST00000262135 You are here now! ENST00000379925 ENST00000562230 ENST00000562588 ENST00000563746 ENST00000564374 ENST00000566096 ENST00000568653 ENST00000569716 NP_001121369 You are here now! NP_001295263 NP_001315351 NP_001315352 NP_001317467 NP_056087


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
PF00168 C2 C2 domain 790-899 CL0154 C2 Homo sapiens
PF11618 C2-C2_1 First C2 domain of RPGR-interacting protein 1 597-738 CL0154 C2 Homo sapiens
PF18111 RPGR1_C Retinitis pigmentosa G-protein regulator interacting C-terminal 1145-1308 CL0154 C2 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Cerebellar Diseases Nervous System Diseases ; 0.569 0.655
Ciliary Motility Disorders Respiratory Tract Diseases ; Otorhinolaryngologic Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.569 0.655
Congenital ocular coloboma (disorder) Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.569 0.655
Disorder of eye Eye Diseases ; 0.569 0.655
Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.569 0.655
Retinal Degeneration Eye Diseases ; 0.569 0.655
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.569 0.655
Meckel-Gruber syndrome N/A 0.569 0.655
Cystic Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.569 0.655
JOUBERT SYNDROME 4 (disorder) Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.569 0.655
COACH syndrome Digestive System Diseases ; Nervous System Diseases ; Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.569 0.655
Cakut Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.569 0.655
MECKEL SYNDROME, TYPE 5 Nervous System Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.569 0.655
JOUBERT SYNDROME 7 Nervous System Diseases ; Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.569 0.655
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.569 0.655
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.569 0.655
NO RESULT FOUND
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