RPGRIP1

Summary: This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameRPGR interacting protein 1
OMIM IDMIM:605446
Ensembl IDEnsembl:ENSG00000092200
HGNC IDHGNC:HGNC:13436
PHARMGKB IDPA34657
Map Location14q11.2

GO terms in RPGRIP1


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Term Type
Evidence Type
GO Term ID
GO Des.
CC IEA GO:0005930 axoneme
CC ISS GO:0032391 photoreceptor connecting cilium
BP IEA GO:0007601 visual perception
BP IEA GO:0042462 eye photoreceptor cell development
BP IEA GO:0050896 response to stimulus
BP IEA GO:0060041 retina development in camera-type eye
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Gene expression in normal tissue: RPGRIP1

16 tissues mixtureadiposeadrenalbrainbreastcolonheartkidneyliverlunglymph nodeovaryprostateskeletal muscletestesthyroidwhite blood cells

Gene-model tissue-cancer distribution: Bubble Plot

LUNtissue: LUN cancer: LUNG model num: 0LUNGtissue: LUNG cancer: undefined model num: 33undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 47undefinedtissue: undefined cancer: ADENOCARCINOMA model num: 9BLOOtissue: BLOO cancer: BLOOD model num: 0BLOODtissue: BLOOD cancer: undefined model num: 8BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 8

Gene-drug pathway distribution

undefined31Chromatin histone acetylation1Purine metabolism1PI3K/MTOR signaling1Chromatin other1Mitosis1Proteasome1Terpenoid backbone biosynthesis1p53 pathway1

Pathways in RPGRIP1


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Database
Pathway ID
Pathway Des.
No matching records found

Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD451 Serdemetan 3
iGMDRD64 Parbendazole 3
iGMDRD577 BIX01294 3
iGMDRD100 Zebularine 2
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in RPGRIP1

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
No matching records found

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