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| # | Reference Title | Reference Citation |
| 1. | X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15. | Bader I, etal., Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63. |
| 2. | Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly. | Brunner S, etal., Biol Reprod. 2008 Oct;79(4):608-17. doi: 10.1095/biolreprod.107.067454. Epub 2008 Jun 25. |
| 3. | Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds. | Brunner S, etal., Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1106-15. doi: 10.1167/iovs.08-2742. Epub 2009 Dec 10. |
| 4. | A novel de novo frameshift mutation of RPGR ORF15 is associated with X-linked retinitis pigmentosa in a Chinese family. | Chang W, etal., Mol Vis. 2007 Aug 30;13:1548-54. |
| 5. | Genes and mutations causing retinitis pigmentosa. | Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19. |
| 6. | X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. | Demirci FY, etal., Am J Hum Genet. 2002 Apr;70(4):1049-53. Epub 2002 Feb 20. |
| 7. | Identification of a 5' splice site mutation in the RPGR gene in a family with X-linked retinitis pigmentosa (RP3). | Dry KL, etal., Hum Mutat. 1999;13(2):141-5. |
| 8. | X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60. | Fishman GA, etal., Ophthalmology. 1998 Dec;105(12):2286-96. |
| 9. | Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. | Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27. |
| 10. | A single, abbreviated RPGR-ORF15 variant reconstitutes RPGR function in vivo. | Hong DH, etal., Invest Ophthalmol Vis Sci. 2005 Feb;46(2):435-41. |
| 11. | A retinitis pigmentosa GTPase regulator (RPGR)-deficient mouse model for X-linked retinitis pigmentosa (RP3). | Hong DH, etal., Proc Natl Acad Sci U S A. 2000 Mar 28;97(7):3649-54. |
| 12. | Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene. | Jacobson SG, etal., Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97. |
| 13. | Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa. | Ji Y, etal., Curr Eye Res. 2010 Jan;35(1):73-9. doi: 10.3109/02713680903395299. |
| 14. | Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa. | Liu L, etal., Chin Med J (Engl). 2002 Jun;115(6):833-6. |
| 15. | RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa. | Moore A, etal., J Med Genet. 2006 Apr;43(4):326-33. Epub 2005 Jul 31. |
| 16. | OMIM Disease Annotation Pipeline | OMIM Disease Annotation Pipeline |
| 17. | Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney. | Patil SB, etal., Kidney Int. 2010 Sep;78(6):622-3. doi: 10.1038/ki.2010.252. |
| 18. | Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis. | Pawlyk BS, etal., Hum Gene Ther. 2010 Aug;21(8):993-1004. doi: 10.1089/hum.2009.218. |
| 19. | Analysis of RPGR in a South African family with X-linked retinitis pigmentosa: research and diagnostic implications. | Rebello G, etal., Clin Genet. 2003 Aug;64(2):137-41. |
| 20. | ClinVar Automated Import and Annotation Pipeline | RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations |
| 21. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
| 22. | Comprehensive gene review and curation | RGD comprehensive gene curation |
| 23. | X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function. | Sharon D, etal., Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2712-21. |
| 24. | The human retinitis pigmentosa GTPase regulator gene variant database. | Shu X, etal., Hum Mutat. 2008 May;29(5):605-8. doi: 10.1002/humu.20733. |
| 25. | Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15. | Thompson DA, etal., PLoS One. 2012;7(5):e35865. doi: 10.1371/journal.pone.0035865. Epub 2012 May 1. |
| 26. | Mutations of RPGR in X-linked retinitis pigmentosa (RP3). | Vervoort R and Wright AF, Hum Mutat. 2002 May;19(5):486-500. |
| 27. | Mutations in the RPGR gene cause X-linked cone dystrophy. | Yang Z, etal., Hum Mol Genet. 2002 Mar 1;11(5):605-11. |
| PMID:9399904 | PMID:9677393 | PMID:11104772 | PMID:12140192 | PMID:12477932 | PMID:12651948 | PMID:15772089 | PMID:16043481 | PMID:21212183 | PMID:21933838 | PMID:22658674 | PMID:29899041 |
| Rpgr (Rattus norvegicus - Norway rat) |
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| RPGR (Homo sapiens - human) |
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| Rpgr (Mus musculus - house mouse) |
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| Rpgr (Chinchilla lanigera - long-tailed chinchilla) |
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| RPGR (Pan paniscus - bonobo/pygmy chimpanzee) |
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| RPGR (Canis lupus familiaris - dog) |
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| Rpgr (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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| RPGR (Sus scrofa - pig) |
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| RPGR (Chlorocebus sabaeus - green monkey) |
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| Rpgr (Heterocephalus glaber - naked mole-rat) |
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| Rpgr (Rattus rattus - black rat) |
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.
Variants in Rpgr
173 total Variants
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| The detailed report is available here: | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer |
miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/). For more information about miRGate, see PMID:25858286 or access the full paper here. |
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| The following QTLs overlap with this region. | ![]() | Full Report | ![]() | CSV | ![]() | TAB | ![]() | Printer | ![]() | Gviewer |
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alimentary part of gastrointestinal system
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appendage
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circulatory system
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ectoderm
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endocrine system
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endoderm
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exocrine system
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hemolymphoid system
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hepatobiliary system
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integumental system
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mesenchyme
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mesoderm
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musculoskeletal system
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nervous system
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renal system
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reproductive system
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respiratory system
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sensory system
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visual system
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 16 | 12 | 67 | 165 | 91 | 90 | 59 | 92 | 59 | 6 | 355 | 192 | 11 | 144 | 80 | 92 | 31 | 17 | 17 |
| RefSeq Transcripts | NM_001127601 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| NM_001374059 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_003754732 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006227269 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006227271 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_006227274 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008773079 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008773081 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008773082 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_008773083 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017588173 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_017602250 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_039099935 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063280166 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063280167 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063280168 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063280169 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063280170 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063280171 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XM_063280172 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010061211 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010061212 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010061213 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| XR_010061214 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| GenBank Nucleotide | AY855168 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| BC162028 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
| JAXUCZ010000021 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
| Ensembl Acc Id: | ENSRNOT00000045753 ⟹ ENSRNOP00000048924 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000067603 ⟹ ENSRNOP00000060034 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000104202 ⟹ ENSRNOP00000095069 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000107551 ⟹ ENSRNOP00000093511 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000107782 ⟹ ENSRNOP00000094523 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000108154 ⟹ ENSRNOP00000086725 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000108262 ⟹ ENSRNOP00000092956 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| Ensembl Acc Id: | ENSRNOT00000114608 ⟹ ENSRNOP00000083955 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| Ensembl Acc Id: | ENSRNOT00000118721 ⟹ ENSRNOP00000088888 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001127601 ⟹ NP_001121073 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | NM_001374059 ⟹ NP_001360988 | ||||||||||||
| RefSeq Status: | VALIDATED | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
|
| RefSeq Acc Id: | XM_008773081 ⟹ XP_008771303 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008773082 ⟹ XP_008771304 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_008773083 ⟹ XP_008771305 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
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| Sequence: |
| RefSeq Acc Id: | XM_017602250 ⟹ XP_017457739 | ||||||||||||||||
| Type: | CODING | ||||||||||||||||
| Position: |
|
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| Sequence: |
| RefSeq Acc Id: | XM_039099935 ⟹ XP_038955863 | ||||||||||||
| Type: | CODING | ||||||||||||
| Position: |
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| RefSeq Acc Id: | XM_063280166 ⟹ XP_063136236 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063280167 ⟹ XP_063136237 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063280168 ⟹ XP_063136238 | ||||||||
| Type: | CODING | ||||||||
| Position: |
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| RefSeq Acc Id: | XM_063280169 ⟹ XP_063136239 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063280170 ⟹ XP_063136240 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063280171 ⟹ XP_063136241 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XM_063280172 ⟹ XP_063136242 | ||||||||
| Type: | CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XR_010061211 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XR_010061212 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XR_010061213 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
| RefSeq Acc Id: | XR_010061214 | ||||||||
| Type: | NON-CODING | ||||||||
| Position: |
|
| Protein RefSeqs | NP_001121073 | (Get FASTA) | NCBI Sequence Viewer |
| NP_001360988 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008771303 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008771304 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_008771305 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_017457739 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_038955863 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063136236 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063136237 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063136238 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063136239 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063136240 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063136241 | (Get FASTA) | NCBI Sequence Viewer | |
| XP_063136242 | (Get FASTA) | NCBI Sequence Viewer | |
| GenBank Protein | AAI62028 | (Get FASTA) | NCBI Sequence Viewer |
| AAX49610 | (Get FASTA) | NCBI Sequence Viewer | |
| Ensembl Protein | ENSRNOP00000060034 | ||
| ENSRNOP00000060034.3 | |||
| ENSRNOP00000086725 | |||
| ENSRNOP00000086725.2 | |||
| ENSRNOP00000092956 | |||
| ENSRNOP00000092956.1 | |||
| ENSRNOP00000095069 | |||
| ENSRNOP00000095069.2 |
| RefSeq Acc Id: | XP_008771304 ⟸ XM_008773082 |
| - Peptide Label: | isoform X2 |
| - Sequence: |
| RefSeq Acc Id: | XP_008771303 ⟸ XM_008773081 |
| - Peptide Label: | isoform X1 |
| - Sequence: |
| RefSeq Acc Id: | XP_008771305 ⟸ XM_008773083 |
| - Peptide Label: | isoform X5 |
| - UniProtKB: | A0A8I6ANX7 (UniProtKB/TrEMBL) |
| - Sequence: |
| RefSeq Acc Id: | XP_017457739 ⟸ XM_017602250 |
| - Peptide Label: | isoform X6 |
| - UniProtKB: | F7F384 (UniProtKB/TrEMBL), A0A8I6ANX7 (UniProtKB/TrEMBL) |
| - Sequence: |
| Ensembl Acc Id: | ENSRNOP00000060034 ⟸ ENSRNOT00000067603 |
| RefSeq Acc Id: | XP_038955863 ⟸ XM_039099935 |
| - Peptide Label: | isoform X3 |
| RefSeq Acc Id: | NP_001360988 ⟸ NM_001374059 |
| - Peptide Label: | isoform 1 |
| - UniProtKB: | A0A8I6AFA8 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | NP_001121073 ⟸ NM_001127601 |
| - Peptide Label: | isoform 2 |
| - UniProtKB: | B1WC72 (UniProtKB/TrEMBL), A0A8I6ANX7 (UniProtKB/TrEMBL) |
| Ensembl Acc Id: | ENSRNOP00000093511 ⟸ ENSRNOT00000107551 |
| Ensembl Acc Id: | ENSRNOP00000083955 ⟸ ENSRNOT00000114608 |
| Ensembl Acc Id: | ENSRNOP00000094523 ⟸ ENSRNOT00000107782 |
| Ensembl Acc Id: | ENSRNOP00000086725 ⟸ ENSRNOT00000108154 |
| Ensembl Acc Id: | ENSRNOP00000092956 ⟸ ENSRNOT00000108262 |
| Ensembl Acc Id: | ENSRNOP00000088888 ⟸ ENSRNOT00000118721 |
| Ensembl Acc Id: | ENSRNOP00000048924 ⟸ ENSRNOT00000045753 |
| Ensembl Acc Id: | ENSRNOP00000095069 ⟸ ENSRNOT00000104202 |
| RefSeq Acc Id: | XP_063136236 ⟸ XM_063280166 |
| - Peptide Label: | isoform X4 |
| RefSeq Acc Id: | XP_063136240 ⟸ XM_063280170 |
| - Peptide Label: | isoform X10 |
| - UniProtKB: | A0A8I6ANX7 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063136238 ⟸ XM_063280168 |
| - Peptide Label: | isoform X8 |
| - UniProtKB: | A0A8I6ANX7 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063136239 ⟸ XM_063280169 |
| - Peptide Label: | isoform X9 |
| - UniProtKB: | A0A8I6ANX7 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063136237 ⟸ XM_063280167 |
| - Peptide Label: | isoform X7 |
| - UniProtKB: | A0A8I6ANX7 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063136241 ⟸ XM_063280171 |
| - Peptide Label: | isoform X11 |
| - UniProtKB: | A0A8I6ANX7 (UniProtKB/TrEMBL) |
| RefSeq Acc Id: | XP_063136242 ⟸ XM_063280172 |
| - Peptide Label: | isoform X12 |
| - UniProtKB: | A0A8I6ANX7 (UniProtKB/TrEMBL) |
| Name | Modeler | Protein Id | AA Range | Protein Structure |
| AF-B1WC72-F1-model_v2 | AlphaFold | B1WC72 | 1-677 | view protein structure |
| eQTL | View at Phenogen | |
| WGCNA | View at Phenogen | |
| Tissue/Strain Expression | View at Phenogen |
| RGD ID: | 13701725 | ||||||||
| Promoter ID: | EPDNEW_R12245 | ||||||||
| Type: | multiple initiation site | ||||||||
| Name: | Rpgr_1 | ||||||||
| Description: | retinitis pigmentosa GTPase regulator | ||||||||
| SO ACC ID: | SO:0000170 | ||||||||
| Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
| Experiment Methods: | Single-end sequencing. | ||||||||
| Position: |
|
| Database | Acc Id | Source(s) |
| AGR Gene | RGD:1560136 | AgrOrtholog |
| BioCyc Gene | G2FUF-3028 | BioCyc |
| Ensembl Genes | ENSRNOG00000003013 | Ensembl, ENTREZGENE, UniProtKB/TrEMBL |
| Ensembl Transcript | ENSRNOT00000067603 | ENTREZGENE |
| ENSRNOT00000067603.3 | UniProtKB/TrEMBL | |
| ENSRNOT00000104202 | ENTREZGENE | |
| ENSRNOT00000104202.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000108154 | ENTREZGENE | |
| ENSRNOT00000108154.2 | UniProtKB/TrEMBL | |
| ENSRNOT00000108262 | ENTREZGENE | |
| ENSRNOT00000108262.2 | UniProtKB/TrEMBL | |
| Gene3D-CATH | 2.130.10.30 | UniProtKB/TrEMBL |
| IMAGE_CLONE | IMAGE:9100258 | IMAGE-MGC_LOAD |
| InterPro | RCC1/BLIP-II | UniProtKB/TrEMBL |
| Reg_chr_condens | UniProtKB/TrEMBL | |
| Signaling_Regulatory_Domain | UniProtKB/TrEMBL | |
| MGC_CLONE | MGC:187915 | IMAGE-MGC_LOAD |
| NCBI Gene | 367733 | ENTREZGENE |
| PANTHER | BTK-BINDING PROTEIN-RELATED | UniProtKB/TrEMBL |
| X-LINKED RETINITIS PIGMENTOSA GTPASE REGULATOR | UniProtKB/TrEMBL | |
| Pfam | RCC1 | UniProtKB/TrEMBL |
| WD40_RLD | UniProtKB/TrEMBL | |
| PhenoGen | Rpgr | PhenoGen |
| PRINTS | RCCNDNSATION | UniProtKB/TrEMBL |
| PROSITE | RCC1_2 | UniProtKB/TrEMBL |
| RCC1_3 | UniProtKB/TrEMBL | |
| RatGTEx | ENSRNOG00000003013 | RatGTEx |
| Superfamily-SCOP | SSF50985 | UniProtKB/TrEMBL |
| UniProt | A0A8I6A4C7_RAT | UniProtKB/TrEMBL |
| A0A8I6AFA8 | ENTREZGENE, UniProtKB/TrEMBL | |
| A0A8I6ANX7 | ENTREZGENE, UniProtKB/TrEMBL | |
| B1WC72 | ENTREZGENE, UniProtKB/TrEMBL | |
| F7F384 | ENTREZGENE | |
| UniProt Secondary | F7F384 | UniProtKB/TrEMBL |
| Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
|---|---|---|---|---|---|---|---|
| 2006-02-09 | Rpgr | retinitis pigmentosa GTPase regulator | Symbol and Name status set to provisional | 70820 | PROVISIONAL |