Gene Name | OPHN1 |
|
Specie | Homo sapiens | |
Full Name | oligophrenin 1 | |
Also known as | ARHGAP41|MRX60|MRXSBL|OPN1 | |
Coordinate | chrX:68042344-68433841 | |
Strand | - | |
Gene summary | This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008] |
Retroname | Coord | Strand | Genomic Region | ENSG | |
---|---|---|---|---|---|
OPHN1P1 | chr3:23615105-23617229 | - |
Intergenic |
N/A | UCSC |
>NM_002547.3 |
AAGGAAGTCTTCCGCTCGCTCCGGAGCGAGGAGCCTGTAGAGAGGCTGTTCCCAGCTCCAGCTCTAACCTCGCCTACACCTTGGGCGGGCCCAAGTGTCACGTTTGCAATTGCTCAGGAAGGATCCGGCCCGTCTCCGGAGGCAAGTCGGGCTGCGGTTTTTGCTGCTTATCTGGGAAGGCGATGCCTAAGGGACATGCTGCTTGCTAGGCAGCACCCTGCCGGGATCCGACTGCGATAGTTAGCTCTCCCTGGCCCTGAAGCCATCGCCGGGGCGCCTGTTCTCTGTCCGGACCAGCCAGCGCTCCTCAGGAGTCTCACTGAAACAGAACCATGGGTCATCCCCCGCTGGAGTTCAGCGACTGCTACCTGGACAGCCCCGATTTCCGCGAGAGGCTCAAGTGTTATGAGCAGGAACTGGAGAGGACCAACAAATTCATCAAAGACGTAATCAAAGACGGCAACGCGCTTATCAGCGCTATGAGAAATTATTCTTCTGCTGTTCAGAAATTTTCCCAGACGCTGCAGTCATTTCAGTTTGATTTCATTGGAGACACTCTGACTGATGATGAAATTAACATCGCTGAATCCTTCAAGGAATTTGCTGAATTGCTCAACGAGGTAGAAAATGAGAGGATGATGATGGTACACAATGCTAGTGATTTGCTGATTAAACCCTTGGAAAATTTCCGGAAGGAACAAATAGGCTTCACCAAGGAGCGGAAAAAGAAATTTGAAAAGGATGGTGAGAGGTTTTATTCTTTACTGGATCGGCACTTACACCTGTCTTCAAAAAAGAAAGAATCTCAGTTACAAGAGGCAGACCTACAGGTGGACAAGGAGAGGCACAATTTTTTCGAGTCCTCTCTTGATTATGTTTATCAAATCCAGGAAGTTCAGGAGTCCAAGAAGTTCAATATTGTGGAGCCTGTCTTGGCCTTTCTTCATAGTCTGTTCATTTCTAACAGCCTGACTGTGGAGCTCACACAGGATTTCCTCCCATACAAACAACAGCTCCAACTCAGTTTACAGAATACAAGAAATCATTTCTCCAGTACCCGGGAAGAGATGGAAGAACTTAAGAAAAGGATGAAAGAAGCTCCCCAGACATGCAAACTTCCAGGACAGCCAACTATTGAAGGCTATCTCTATACACAAGAGAAATGGGCTTTAGGAATATCCTGGGTGAAATACTATTGCCAGTATGAGAAAGAGACCAAAACACTGACCATGACGCCTATGGAGCAGAAGCCAGGTGCTAAGCAGGGGCCCTTGGACTTAACACTGAAGTACTGTGTGAGAAGGAAGACGGAGTCTATCGACAAGAGGTTCTGTTTTGACATAGAAACTAATGAAAGGCCAGGAACCATCACTCTGCAGGCCCTTTCAGAAGCTAACAGAAGGCTATGGATGGAAGCCATGGATGGGAAAGAACCTATCTACCACAGCCCTATAACAAAACAGCAAGAAATGGAGCTAAATGAAGTGGGCTTCAAGTTTGTCAGGAAGTGCATCAATATTATTGAGACCAAAGGGATCAAGACAGAAGGGTTGTACCGCACTGTGGGCAGCAATATTCAGGTTCAGAAGCTGCTGAATGCCTTTTTTGATCCTAAATGCCCAGGAGATGTTGATTTTCATAATAGTGACTGGGACATTAAGACAATCACCAGCTCCTTGAAATTCTACCTCAGGAATCTTTCTGAACCTGTCATGACCTATAGACTTCACAAAGAGCTGGTCTCTGCTGCCAAGTCTGACAACCTGGATTACCGCCTAGGAGCTATTCACTCCCTGGTATATAAGCTACCAGAAAAGAACCGAGAGATGCTGGAACTTCTGATAAGACACTTGGTCAATGTGTGTGAGCACAGCAAAGAGAATCTTATGACCCCCTCCAACATGGGAGTAATCTTTGGGCCCACCCTGATGAGAGCTCAGGAGGACACTGTGGCCGCCATGATGAACATCAAATTCCAGAACATAGTGGTGGAAATACTAATCGAGCACTTTGGCAAGATCTATTTAGGTCCACCTGAGGAAAGCGCTGCACCGCCAGTGCCTCCGCCTCGGGTGACAGCAAGAAGGCACAAACCAATCACGATTTCAAAGCGCTTGCTGCGAGAAAGGACGGTTTTCTATACTTCTTCCCTGGATGAAAGCGAAGATGAAATCCAACATCAAACACCGAATGGTACTATCACCAGCAGCATAGAACCCCCCAAGCCACCACAACACCCCAAACTACCTATTCAGAGGAGTGGGGAAACTGATCCTGGGAGGAAGTCCCCAAGCAGGCCTATTTTGGATGGCAAGTTGGAGCCCTGCCCAGAGGTGGACGTGGGGAAGTTGGTGTCTAGGCTGCAGGATGGAGGGACCAAGATCACCCCAAAGGCCACCAATGGACCCATGCCAGGCTCTGGGCCCACCAAGACCCCCTCTTTCCACATAAAGAGACCAGCTCCCCGGCCCCTGGCCCACCACAAGGAGGGGGATGCTGACAGTTTCAGCAAAGTGCGGCCTCCAGGAGAAAAGCCAACCATCATCCGCCCCCCAGTGAGGCCCCCAGATCCTCCCTGCCGGGCAGCTACTCCCCAAAAGCCAGAACCAAAGCCAGATATTGTGGCTGGCAATGCGGGGGAAATCACATCATCTGTGGTGGCTTCCAGGACCAGGTTTTTTGAAACAGCTTCCCGGAAAACAGGAAGTTCTCAAGGCAGACTTCCTGGAGATGAAAGTTGAGGCTACAGGTTTTAAAAGCCTTGGCCTCAGAGGACCCTTTCCAGGTTCTGAAAGAGTCTTTCTTCTTCAAACCTTTGTGTGCGGAGTCATTTTGTGTTGAAGAGCAGCTCCTTCCTAGCCTTGCACTTTCAGACTCTCTCTGGGAGGCCATAAAATAAGGAGCATATGTCCTAGACAGGTGTTTATATCTCCTTTGTATTCTGTCTTCATCCCCTCAGAAGGTCTGTTTTGAGTTCCTATAACACTGTGAAGAGCTGGACTCCCTCAAGCCAGACTCTGCCAAAACCAAGATATCCACTTACCTGAGTTGAAGAGGGGAGCTCAGTTTTCAACTCTTCCCTGAACTTCCTGCTTCCTCAGAGGGCCATTGAACTCTGAGAGATTTGGGGCTAAAGACTGATCTCAGGGGTCTTACCTTGAACTGAAGGCCACTTGAGTTGGGGCCATTGCTTACCTTGGTTGGAAGGGAATAGAAATGTTTGCTGAACATTGGAGAATCTCAACATGTCTCCTACTGAGGATATGGACACTGGTGCCATGTCAGCGCTCTGGTGCTGCAGTATGTTGCCAAGAGCCCGTCTGCTCCTGCGAGGCTATGAGTGGGATGAGTGATGCCCCCACAGCACCTCCATGTGGACTTAGGAAGGTGGCCTTCCTGCTGTTACATGCAGCCACTTAGGACAAATCTGCAAAGCATGTTTTGCATGTAAAAGCCTAGGTCTATTTGGATTATTCTTTCTCCTTTTTTTTGACAGCTTCCTGTCAAGCAATCAAGAAACAAACAAAAGCTGAACACATTTCTTTTTAAAAAAAGGAGACTGTGTTTGGTCCTGTAGGAGTTCTATTTTGGGGTCAAATGCTAGAAAAATTGTTAAGGTGGATTGAGGCCAGGCAGCTGTCACTGCTGCTTCATGTTTGCCTTCTGCACATAAACTCTTTTATCTCCTGAAAAAAGCAgttcttaacccagtgtccatggactcagaaactccatgatgcccctgagatggtatgcacaattccatgacaatatgccctttctggggagatagtccataatgttctgctaaatttcaaatgggctcgtgacccaaaaaagtcaagaaccacAGCACTTGAGTAAAATACTCTTTTTACAATCCATATAAGCCCTTGATtggaagggcttttcaaaatcatttagtctaacaactgcccagtttccagtcgggggaactgaggcagagcaaggtagtgaTCACACCAGTACAAGATCTCAGGTCCCAGGCTCCTATGCAAGTTTTTTTTCCCCATTATATCACACTTATCTAGCAAGGGACCTTGTGGTTTGTGGCTTTAGTGGCCATCATTTCTGGGGGTTGGCTTTTACCCTTTTTCTTGAATATTTGCCACCAAGTGAAAAATGTTAGGACATAAACCCTTGCCAGGTCCCTTTCATTTGCTATCTCTATTATTGGAAAGGACCTAAAAATTGGTGTAATGGGGCAGAAATCTGAGGAATGGACATTTCTAATTCCTGTTTGTTGAAGGGAAGTTGCTGGAAAGAGCATCAGTACTTGTTTCTATGCAGATGCCTGGGCCGTAGCTTGTCTGTAGCGTCTGTATAATTATAATGTTGCCCAGTGTGAGGGAAAGAGCTTTCCTACTTGCACTCTTCTACCAAGGCCCTGTTAGTGCACTGATTATAGTACTGACAGATAAACCTAGATAAAGAGATAGAGAGTGAGTACATGCACACTCATGTGCAAACCCACTCAGAGATGCATTTGGAACAGTGCTACTGAAAGGCAGTAGTCATTTTCAAGACTGAATTCCAAACATGGTTTATTGGTGAGTTAGGAACATGTAAGGCCAAGTACACTGAGAGCCTTTTTGAAAGTAATTGAGTGGAAACTTGATGCCATTCTAAATCAAGGCATATCCAGGTGGCCCGGTTGAACTCACTCCACTGTACCCAGTCTCAAAGGCCAGGTTGCTAAGAAACCAGGAGTAAAAGAGTCAAGTGACCATCATTTCACCTGCTGCTTGCCCCCAATAGTAGTCTCTGTGAGGCCTTACTGACCTCACCTAGGAAGTGATTTTTGAGCCCTTGTTTCAGGGCTGTGGCCTCCCTGCTCTATCCTGAATAAAGCAGACAGGTGTGCAGATTTTGGCCATGAAAGCATGGCTAATAGGGCCACAGTCCCTTTAAAGAAACATGGTTTGACTCTGGTTTTCTTGGGGGAAAATACCACAATCACCGATGCAAACATTGGAAGATTATTGAGAGCCCTAGAAAGCTGCTGTGATCCCAGTAGAAAATATGTCCCAGAAATGTCATGAGATTGCTGTGTGTTGCCTGGGACACAGATCAAGGGCCTATCTTGGAGAGCTGGGGACCAGCAGTCTGCCTGGAGGCCAGGGAGCAGTGGCTGAGTAGCTCTGCCTTTGCTCTGGTCTATACCTTAAGAATGCCAAAGAATGAATTTCAACGCCTGCCTTTGGCACTCTGACTTAAAGTGCAAAAAGCTTCTGTGGCGAGGCATGCTATCATGGAATGAGACTGGCTTGCCCTAGGCTTAATGGATGGGCAGTCATTTTGCAGAGGCTATGGGAAGAGGGTGATAATAGAAGAGTGGCAGCTATAGGAAATTATCAACATACCTTGGCCAGCAAGTTAGAGAATCTGGCAATGGATGAACTGAAAGTGATGAACTGGCAGGGATAACAAAGAACCTAACATTTATTAAGCACGTATTTATTAACTGCTCAGTGTTTCATATTCATGCAAGTATTctcattttacagagaaagaaattatggcccagggggctaaagtaaacaactcaagggcacatagaaagtaaataaaaggactgtgatttgaatccaggccactcttagcccatgctgttttccctttgccacactgTGGTAGGTGTTTGAACAGAGGCCACATTACTAGAGTTGGCATGACTCTTGACTCTTGCCTGCCTAACAAAATATTGAAAGGCAAACATTTGAAGGAGGGAGGGGGTGCAGGTTCAGTTTATATGGAAATGCAAACTGGGCTGGAAGATATTCCTGAGTTAGGCTTTCTCTTCATATTCAGCTTGCACATTTGGTAATGTTTTTAAGATGATCATCTAATTTTATTTTGTGAAGTGAAGGATTTGTGTTTTAGTTGGCAGTTGTTAAGTCCTTGGCTTGCCATTTTTCAAAAAGTAAAAAGGTCCTCACAGGTGTCTCCATACTTCGCCAAGGTTGTAGCATGGGCAGTTTCAGTTTCAGCCTAAGAGACTGGTGACATCCACAAATGCAGTTTTAGAAGCAGAAAAGGTCTTGGTGCCTCTGCAGTACTTGATGTATTGGGGTCAAATCTCTACAAATTTTTCTGTGGTGATAGCAAAATCAAGAGATGGCTTACAAAAAGAAATATTGAATTTTTATTTTTGAAGTTTTTGTTTTTTAAAAGGTTGGGGGTGTTCAGCCACTGAGGGACAAAACTTAGCATCTAATTTCAATTATAGTGTCATGCAGAGTATTTCTAAAGTAATTGGTTATCATGGGAAAGTATTCTCTTTTCAAGAAGTTCTTTGATTCTGTAATAACTAGAACAAATAAAGTAGTAAAAGAAGAAATAGTTCTGTGACTAGGAAAAAATTGCTTTTGAGAGAACATAGATCAATTATACTACTTCTAAGGTAGCTGCAGATAAGTGGCCTTGACACATTACAAGCCTGGAAAAAAACATCAGAAATAATAAAAAATTTCAGAGAGAATCAAGATACCtttttttttcttttttttttcttttttttattatactctaagttttagggtacatgtgcacattgtgcaggttagttacatatgtatacatgtgccatgctggtgcgctgcacccactaatgtgtcatctagcattaggtatatctcccagtgctatccctcccccctcccccgaccccaccacagtccccagagtgtgatattccccttcctgtgtccatgtgatctcattgttcaattcccacctatgagtgagaatatgcggtgtttggttttttgttcttgcgatagtttactgagaatgatggtttccaatttcatccatgtccctacaaaggatatgaactcatcattttttatggctgcatagtattccatggtgtatatgtgccacattttcttaatccagtctatcattgttggacatttgggttggttccaagtctttgctattgtgaatagtgccgcaataaacatacgtgtgcatgtgtctttatagcagcatgatttatactcatttgggtatatacccagtaatgggatggctgggtcaaatggtatttctagttctagatccctgaggaatcgccacactgacttccacaatggttgaactagtttacagtccaaccaacagtgtaaaagtgttcctatttctccgcatcctctccagcacctgttgtttcctgactttttaatgattgccattctaactggtgtgagatgatatctcatagtggttttgatttgcatttctctgatggccagtgatgatgagcatttcttcatgtgttttttggctgcataaatgtcttcttttgagaagtgtctgttcatgtccttcgcGAAGGACAAGATACCTTAAAGATAAGTTTTCGATAAAGAAAAGCCTTCATTTTCCTGGGGGAAATGAAGCACTTGATGCCAAGGACATTAGTAGAGGGCTAGAAAGATTGCCTGTGTGAAAGACATATGCTATATCCAAATAATAAAACAAACGAGATCCTGGGGCTCATTCATGTGACTTTCAATAAAGTATGTAGACTGTCTAATATAA |