Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

Summary

Gene Name AIFM1
Plot displaying the genomic locations of a parental gene (in chrX) and its retrocopy(ies). Each line represents a retrocopy.
Specie Homo sapiens
Full Name apoptosis inducing factor mitochondria associated 1
Also known as AIF|AUNX1|CMT2D|CMTX4|COWCK|COXPD6|DFNX5|NADMR|NAMSD|PDCD8|SEMDHL
Coordinate chrX:130129362-130165841
Strand -
Gene summary This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]

Retrocopy(s) from AIFM1

Retroname Coord Strand Genomic Region ENSG
AIFM1P1 chr10:18735706-18738829 + Intergenic
ENSG00000225509 UCSC

Expression

Transcript Sequences

>NM_001130847.4
GTTCCCCTTCCCCGGCTCTAGCAGGCCGGCTTCTCTGTCCAATGCCCACCCGGAGCTGGGAGGAGGAGTCTGCGTAATGTGCGTGTGAAGAGACTGGGGGAGCTGGCCGGGGCTCACGGTGTTTGACCCGTCGGTCGTGCGTGAGAGGAAAGGGAAGGAGGAGGTCCCGAATAGCGGTCGCCGAAATGTTCCGGTGTGGAGGCCTGGCGGCGGGTGCTTTGAAGCAGAAGCTGGTGCCCTTGGTGCGGACCGTGTGCGTCCGAAGCCCGAGGCAGAGGAACCGGCTCCCAGGCAACTTGTTCCAGCGATGGCATGTTCCTCTAGAACTCCAGATGACAAGACAAATGGCTAGCTCTGGTGCATCAGGGGGCAAAATCGATAATTCTGTGTTAGTCCTTATTGTGGGCTTATCAACAGTAGGAGCTGGTGCCTATGCCTACAAGACTATGAAAGAGGATGAAAAAAGATACAATGAAAGAATTTCAGGGTTAGGGCTGACACCAGAACAGAAACAGAAAAAGGCCGCGTTATCTGCTTCAGAAGGAGAGGAAGTTCCTCAAGACAAGGCGCCAAGTCATGTTCCTTTCCTGCTAATTGGTGGAGGCACAGCTGCTTTTGCTGCAGCCAGATCCATCCGGGCTCGGGATCCTGGGGCCAGGGTACTGATTGTATCTGAAGATCCTGAGCTGCCGTACATGCGACCTCCTCTTTCAAAAGAACTGTGGTTTTCAGATGACCCAAATGTCACAAAGACACTGCGATTCAAACAGTGGAATGGAAAAGAGAGAAGCATATATTTCCAGCCACCTTCTTTCTATGTCTCTGCTCAGGACCTGCCTCATATTGAGAATGGTGGTGTGGCTGTCCTCACTGGGAAGAAGGTAGTACAGCTGGATGTGAGAGACAACATGGTGAAACTTAATGATGGCTCTCAAATAACCTATGAAAAGTGCTTGATTGCAACAGGAGGTACTCCAAGAAGTCTGTCTGCCATTGATAGGGCTGGAGCAGAGGTGAAGAGTAGAACAACGCTTTTCAGAAAGATTGGAGACTTTAGAAGCTTGGAGAAGATTTCACGGGAAGTCAAATCAATTACGATTATCGGTGGGGGCTTCCTTGGTAGCGAACTGGCCTGTGCTCTTGGCAGAAAGGATATATGAAATCAGGGCATCTTTTCAGGAGGATGCTTCCTATTCAGAGGTTGCAAAGCACTTATGTAAGCCTTAGGTGACTGCATGGGTGGAAGTGCACAGAGTTCACCATCTGAAGCTTAATCTGGGGCCAGCAGTTCTGATACCTGTTGTATTTGCGTTACAAATGAACTTGAGCACCGAGGCCCTCATGCCCACTGTCCTCTCGAGCCTTGGGCACAGAAGTGATTCAACTCTTCCCCGAGAAAGGAAATATGGGAAAGATCCTCCCCGAATACCTCAGCAACTGGACCATGGAAAAAGTCAGACGAGAGGGGGTTAAGGTGATGCCCAATGCTATTGTGCAATCCGTTGGAGTCAGCAGTGGCAAGTTACTTATCAAGCTgaaagacggcaggaagGTAGAAACTGACCACATAGTGGCAGCTGTGGGCCTGGAGCCCAATGTTGAGTTGGCCAAGACTGGTGGCCTGGAAATAGACTCAGATTTTGGTGGCTTCCGGGTAAATGCAGAGCTACAAGCACGCTCTAACATCTGGGTGGCAGGAGATGCTGCATGCTTCTACGATATAAAGTTGGGAAGGAGGCGGGTAGAGCACCATGATCACGCTGTTGTGAGTGGAAGATTGGCTGGAGAAAATATGACTGGAGCTGCTAAGCCGTACTGGCATCAGTCAATGTTCTGGAGTGATTTGGGCCCCGATGTTGGCTATGAAGCTATTGGTCTTGTGGACAGTAGTTTGCCCACAGTTGGTGTTTTTGCAAAAGCAACTGCACAAGACAACCCCAAATCTGCCACAGAGCAGTCAGGAACTGGTATCCGATCAGAGAGTGAGACAGAGTCCGAGGCCTCAGAAATTACTATTCCTCCCAGCACCCCGGCAGTTCCACAGGCTCCCGTCCAGGGGGAGGACTACGGCAAAGGTGTCATCTTCTACCTCAGGGACAAAGTGGTCGTGGGGATTGTGCTATGGAACATCTTTAACCGAATGCCAATAGCAAGGAAGATCATTAAGGACGGTGAGCAGCATGAAGATCTCAATGAAGTAGCCAAACTATTCAACATTCATGAAGACTGAAGCCCCACAGTGGAATTGGCAAACCCACTGCAGCCCCTGAGAGGAGGTCGAATGGGTAAAGGAGCATTTTTTTATTCAGCAGACTTTCTCTGTGTATGAGTGTGAATGATCAAGTCCTTTGTGAATATTTTCAACTATGTAGGTAAATTCTTAATGTTCACATAGTGAAATAAATTCTGATTCTTCTAAATTAAA