C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: retinitis pigmentosa GTPase regulator
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000156313 RPGR 9606 - X:38269163-38327564 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000318842 RPGR-001 38269163-38327564 protein_coding
  ENST00000339363 RPGR-201 38269171-38327535 protein_coding
  ENST00000378505 RPGR-009 38284409-38327544 protein_coding
  ENST00000464437 RPGR-006 38298331-38301371 protein_coding
  ENST00000470183 RPGR-005 38317246-38318990 retained_intron
  ENST00000474584 RPGR-007 38269520-38327506 nonsense_mediated_decay
  ENST00000476559 RPGR-003 38269343-38273942 retained_intron
  ENST00000482855 RPGR-002 38269349-38327422 nonsense_mediated_decay
  ENST00000494707 RPGR-004 38273435-38291465 protein_coding
  ENST00000494841 RPGR-008 38297308-38304831 retained_intron

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000318842ENST00000339363ENST00000378505ENST00000470183ENST00000474584ENST00000476559ENST00000482855ENST00000494707
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000318842 4.486±0.00 2.220±0.00 N/A N/A 0.602±0.00 N/A 0.156±0.00 0.504±0.00 0.269±0.01 0.759±0.00 0.646±0.00 1.296±0.50 0.544±0.31 6.279±3.51
ENST00000339363 1.934±0.00 N/A N/A 1.273±0.00 0.679±0.00 0.725±0.00 0.543±0.00 0.480±0.00 N/A 0.577±0.00 N/A 1.585±0.00 0.394±0.15 N/A
ENST00000378505 N/A N/A 0.084±0.00 0.595±0.00 N/A 0.335±0.17 N/A 0.531±0.00 0.169±0.00 0.405±0.00 N/A N/A N/A N/A
ENST00000470183 N/A N/A 2.128±0.00 6.452±0.00 N/A 11.285±0.00 N/A 2.310±0.00 N/A N/A N/A N/A N/A N/A
ENST00000474584 N/A N/A N/A 0.977±0.00 N/A 1.391±0.00 0.685±0.00 1.145±0.00 0.426±0.00 N/A 0.762±0.00 N/A 0.286±0.00 N/A
ENST00000476559 N/A N/A N/A N/A N/A N/A N/A N/A N/A 1.134±0.00 N/A 1.184±0.00 N/A N/A
ENST00000482855 4.534±0.00 2.446±0.00 N/A 0.291±0.00 0.874±0.00 0.756±0.00 1.181±0.00 N/A 0.151±0.00 3.133±0.00 N/A 0.509±0.00 0.380±0.16 1.464±0.00
ENST00000494707 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 3.238±0.00 1.818±0.00 5.802±0.00

Conserved Regions

Region IDSub-RegionRegion TypePosition
CIL_0005YZ CIL_0005YZ_0001 CGP X:38149336-38327564
CIL_0005YY CIL_0005YY_0001 CGP X:38269163-38421450

Gene Ontology

GO IDEvidence TypeGO Description
GO:0001750 IDA photoreceptor outer segment
GO:0005085 IEA guanyl-nucleotide exchange factor activity
GO:0005515 IPI protein binding
GO:0005737 IEA cytoplasm
GO:0005794 ISS Golgi apparatus
GO:0005813 IDA centrosome
GO:0005929 IEA cilium
GO:0006886 TAS intracellular protein transport
GO:0007601 IMP visual perception
GO:0036064 ISS ciliary basal body
GO:0036126 ISS sperm flagellum
GO:0042073 ISS intraciliary transport
GO:0042384 IMP cilium assembly
GO:0042462 IEA eye photoreceptor cell development
GO:0043547 IEA positive regulation of GTPase activity
GO:0044822 IDA poly(A) RNA binding
GO:0050896 IEA response to stimulus

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000056617 rpgra retinitis pigmentosa GTPase regulator a protein_coding Danio_rerio
ENSDARG00000057074 rpgrb retinitis pigmentosa GTPase regulator b protein_coding Danio_rerio
ENSMUSG00000031174 Rpgr retinitis pigmentosa GTPase regulator protein_coding Mus_musculus

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