RetrogeneDB ID:

retro_hsap_3196

Retrocopy
location
Organism:Human (Homo sapiens)
Coordinates:5:76586008..76587625(+)
Located in intron of:ENSG00000113231
Retrocopy
information
Ensembl ID:ENSG00000251400
Aliases:None
Status:KNOWN_PSEUDOGENE
Parental gene
information
Parental gene summary:
Parental gene symbol:ALDH7A1
Ensembl ID:ENSG00000164904
Aliases:ALDH7A1, ATQ1, EPD, PDE
Description:aldehyde dehydrogenase 7 family, member A1 [Source:HGNC Symbol;Acc:877]


Retrocopy-Parental alignment summary:






>retro_hsap_3196
ATGTGGCGCCTGCCTCGCGCACTGTGTGTGCACGCTGCAAAGACCAGCAAGCTCCTTGGACCTTGGAGCAGGCCTGCTGC
CTTCATGTCCACTCTCCTCATCAATCAGCCCCAGTATGCATGGCTGAAAGAGGTGGGGCTCCGAGAGGAAAATGAGGGCG
TGTATAATGGAAGCTGGGGAGGCCGGGGAGAGGTTATTATGACCTGTTGCTCTGCTAACAACTAGCCAATAGCAAGAGTC
CGACAGGCCAGTGTGGCAGACTATGAAGAAACTGTAAAGAAAGCAACAGAAGCATGGAAAATCTGGGCAGATATTCCTGC
TCCAAAACGAGGAGAAATAGTAAGACAGATTGACGATGCCTTGTGGGAGAAGATCCAAGTACTAGGAAGCTTGGTGTCTT
TGGAGATGGGGAAAATCTTAGTGGAAGGTGTGGGTGAAGTTCAGGAGTATGTGGATATCTGTGACTATGCTGTTGGTTTA
TCAAGGATGATTGGAGGACCTATCTTGCCTTCTGAAAGACCTGGCCATGCACTGATTGAGCAGTGGAATCCTGTAGGCCT
GGTTGGAATCATCACGGCATTCAATTTCCCTGTGGCAGTGTATGGTTGGAACAACGCCATTGTCATGATCTGTGGAAATG
TCTGCCTCTGGAAAGGAGCTCCAACCACTTCCCTCATTAGTGTGGCTGTCACAAAGATAATAGCCAAGGTTCTGGAGGAC
AACAAGCTGCTTGGTGCAATTTGTTCCTTGACTTGTGGTGGAGCAGATACCGGCACAGCAATGGCCAAAGATGAACGAGT
GAACCTGCTGTCCTTCACCGGGAGCACTCAGGTGGGAAAACAGATGGCCCTGATGGTGCAGGAGAGGTTTGGGAGAAGTT
TGTTGGAACTTGGAGGAAACAGTACCATTATTGCCTTTGAAGATGCAGACCTCAGCTTAGTTGTTCCATCAGCTCTCTTC
ACTGCTGTGGGAATAGCTGGCCAGAGGTGTACCACTGCGAGGCGACTGTTTGTACATGAAAGCATCCATCATGAGGTTGT
AAACAGACTTAAAAAGGCCTACGCACAGATCCGAGTTGGGAACCCATGGGACCCTAATGTTCTCTATGGGCCACTCCACA
CCAAGCAGGCAGTGAGCATGTTTCTTGGAGCAGCGGAAGAAGCAAAGAAAGAAGGTAGCACAGTGGTCTATGGGGGCAAG
GTTATGGATCGCCCTGGAAATTATGTAGAACCGACAATTGTGACAGGTCTTGCCCACGATGCATCCATTGCACACACAGA
GACTTTTGCTCCGATTCTGTATGTCTTTAAATTCAAGAATGAAGAAGAGGTCTTTGCATGGAATACTGAAGTAAAACAGA
GACTTTCAAGTAGCAACTTTACCAAAGATCTGGGCAGAATCTTTCGCTGGCTTGGACCTAAAGGATCAGACTGTGGCACT
GTAAATGTCAACATTCCAACAAGTGGGGCTGAGATTGGAGGTGCCTTTGGAGGAGAAAAGCACACTGGTGGTGGCAGGGA
ATCTGGCAGTGATGCCTGGAAACAGTACATGAGAAGGTCTACTTGTACTATCAACTACAGTAAAGACTTTCCTCTGGCCC
AAGGAATCAAGTTTCAG

ORF - retro_hsap_3196 Open Reading Frame is not conserved.
Retrocopy - Parental Gene Alignment summary:
Percent Identity: 94.62 %
Parental protein coverage: 100. %
Number of stop codons detected: 1
Number of frameshifts detected 0


Retrocopy - Parental Gene Alignment:

ParentalMWRLPRALCVHAAKTSKLSGPWSRPAAFMSTLLINQPQYAWLKELGLREENEGVYNGSWGGRGEVITTYC
MWRLPRALCVHAAKTSKL.GPWSRPAAFMSTLLINQPQYAWLKE.GLREENEGVYNGSWGGRGEVI.T.C
RetrocopyMWRLPRALCVHAAKTSKLLGPWSRPAAFMSTLLINQPQYAWLKEVGLREENEGVYNGSWGGRGEVIMTCC
ParentalPANNEPIARVRQASVADYEETVKKAREAWKIWADIPAPKRGEIVRQIGDALREKIQVLGSLVSLEMGKIL
.ANN.PIARVRQASVADYEETVKKA.EAWKIWADIPAPKRGEIVRQI.DAL.EKIQVLGSLVSLEMGKIL
RetrocopySANN*PIARVRQASVADYEETVKKATEAWKIWADIPAPKRGEIVRQIDDALWEKIQVLGSLVSLEMGKIL
ParentalVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERSGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIAMI
VEGVGEVQEYVDICDYAVGLSRMIGGPILPSER.GHALIEQWNPVGLVGIITAFNFPVAVYGWNNAI.MI
RetrocopyVEGVGEVQEYVDICDYAVGLSRMIGGPILPSERPGHALIEQWNPVGLVGIITAFNFPVAVYGWNNAIVMI
ParentalCGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLPGAICSLTCGGADIGTAMAKDERVNLLSFTGSTQVGK
CGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKL.GAICSLTCGGAD.GTAMAKDERVNLLSFTGSTQVGK
RetrocopyCGNVCLWKGAPTTSLISVAVTKIIAKVLEDNKLLGAICSLTCGGADTGTAMAKDERVNLLSFTGSTQVGK
ParentalQVGLMVQERFGRSLLELGGNNAIIAFEDADLSLVVPSALFAAVGTAGQRCTTARRLFIHESIHDEVVNRL
Q..LMVQERFGRSLLELGGN..IIAFEDADLSLVVPSALF.AVG.AGQRCTTARRLF.HESIH.EVVNRL
RetrocopyQMALMVQERFGRSLLELGGNSTIIAFEDADLSLVVPSALFTAVGIAGQRCTTARRLFVHESIHHEVVNRL
ParentalKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAVEEAKKEGGTVVYGGKVMDRPGNYVEPTIVTGLGHD
KKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGA.EEAKKEG.TVVYGGKVMDRPGNYVEPTIVTGL.HD
RetrocopyKKAYAQIRVGNPWDPNVLYGPLHTKQAVSMFLGAAEEAKKEGSTVVYGGKVMDRPGNYVEPTIVTGLAHD
ParentalASIAHTETFAPILYVFKFKNEEEVFAWNNEVKQGLSSSIFTKDLGRIFRWLGPKGSDCGIVNVNIPTSGA
ASIAHTETFAPILYVFKFKNEEEVFAWN.EVKQ.LSSS.FTKDLGRIFRWLGPKGSDCG.VNVNIPTSGA
RetrocopyASIAHTETFAPILYVFKFKNEEEVFAWNTEVKQRLSSSNFTKDLGRIFRWLGPKGSDCGTVNVNIPTSGA
ParentalEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDLPLAQGIKFQ
EIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKD.PLAQGIKFQ
RetrocopyEIGGAFGGEKHTGGGRESGSDAWKQYMRRSTCTINYSKDFPLAQGIKFQ

Legend:
*Stop codon
>Forward frameshift by one nucleotide
<Reverse frameshift by one nucleotide






(Hint: click retrocopy or parental gene accession number on the plot's legend, to show / hide expression level values)

Expression validation based on RNA-Seq data:
Library Retrocopy expression Parental gene expression
bodymap2_adipose 0 .00 RPM 31 .84 RPM
bodymap2_adrenal 0 .02 RPM 25 .16 RPM
bodymap2_brain 0 .19 RPM 152 .55 RPM
bodymap2_breast 0 .02 RPM 57 .69 RPM
bodymap2_colon 0 .02 RPM 24 .61 RPM
bodymap2_heart 0 .04 RPM 27 .41 RPM
bodymap2_kidney 0 .10 RPM 79 .31 RPM
bodymap2_liver 0 .02 RPM 36 .04 RPM
bodymap2_lung 0 .00 RPM 20 .09 RPM
bodymap2_lymph_node 0 .00 RPM 15 .11 RPM
bodymap2_ovary 0 .06 RPM 108 .88 RPM
bodymap2_prostate 0 .02 RPM 55 .74 RPM
bodymap2_skeletal_muscle 0 .00 RPM 8 .98 RPM
bodymap2_testis 0 .77 RPM 40 .53 RPM
bodymap2_thyroid 0 .28 RPM 65 .06 RPM
bodymap2_white_blood_cells 0 .00 RPM 1 .14 RPM
RNA Polymerase II actvity near the 5' end of retro_hsap_3196 was not detected
No EST(s) were mapped for retro_hsap_3196 retrocopy.
No TSS is located nearby retro_hsap_3196 retrocopy 5' end.
retro_hsap_3196 was not experimentally validated.

Retrocopy orthology:
Retrocopy retro_hsap_3196 has 1 orthologous retrocopies within eutheria group .

Species RetrogeneDB ID
Pongo abelii retro_pabe_2651

Parental genes homology:
Parental genes homology involve 5 parental genes, and 5 retrocopies.

Species Parental gene accession Retrocopies number
Choloepus hoffmanni ENSCHOG000000021431 retrocopy
Homo sapiens ENSG000001112751 retrocopy
Homo sapiens ENSG00000164904 1 retrocopy
retro_hsap_3196 ,
Pongo abelii ENSPPYG000000259271 retrocopy
Sarcophilus harrisii ENSSHAG000000131621 retrocopy

Expression level across human populations :
image/svg+xml GBR_HG00142 GBR_HG00099 GBR_HG00114 GBR_HG00143 GBR_HG00131 GBR_HG00137 GBR_HG00133 GBR_HG00119 GBR_HG00111 GBR_HG00134 FIN_HG00378 FIN_HG00338 FIN_HG00349 FIN_HG00375 FIN_HG00315 FIN_HG00277 FIN_HG00328 FIN_HG00321 FIN_HG00377 FIN_HG00183 TSI_NA20756 TSI_NA20538 TSI_NA20798 TSI_NA20532 TSI_NA20765 TSI_NA20518 TSI_NA20513 TSI_NA20512 TSI_NA20771 TSI_NA20786 YRI_NA19114 YRI_NA19099 YRI_NA18870 YRI_NA18907 YRI_NA19223 YRI_NA19214 YRI_NA18916 YRI_NA19093 YRI_NA19118 YRI_NA19213 Toscaniin Italia: Finnish inFinland: British in England and Scotland: Utah Residents (CEPH) with Northernand Western European Ancestry: Yoruba in Ibadan, Nigeria: CEU_NA12760 CEU_NA12827 CEU_NA12872 CEU_NA12751 CEU_NA12873 CEU_NA12400 CEU_NA11930 CEU_NA12004 CEU_NA11831 CEU_NA11843 No expression ( = 0 RPM ) > 0 RPM = 0.19 RPM Legend:


Library Retrogene expression
CEU_NA11831 0 .00 RPM
CEU_NA11843 0 .00 RPM
CEU_NA11930 0 .03 RPM
CEU_NA12004 0 .00 RPM
CEU_NA12400 0 .00 RPM
CEU_NA12751 0 .00 RPM
CEU_NA12760 0 .00 RPM
CEU_NA12827 0 .00 RPM
CEU_NA12872 0 .05 RPM
CEU_NA12873 0 .00 RPM
FIN_HG00183 0 .00 RPM
FIN_HG00277 0 .00 RPM
FIN_HG00315 0 .00 RPM
FIN_HG00321 0 .00 RPM
FIN_HG00328 0 .02 RPM
FIN_HG00338 0 .02 RPM
FIN_HG00349 0 .00 RPM
FIN_HG00375 0 .00 RPM
FIN_HG00377 0 .03 RPM
FIN_HG00378 0 .00 RPM
GBR_HG00099 0 .00 RPM
GBR_HG00111 0 .02 RPM
GBR_HG00114 0 .00 RPM
GBR_HG00119 0 .00 RPM
GBR_HG00131 0 .00 RPM
GBR_HG00133 0 .02 RPM
GBR_HG00134 0 .00 RPM
GBR_HG00137 0 .00 RPM
GBR_HG00142 0 .00 RPM
GBR_HG00143 0 .00 RPM
TSI_NA20512 0 .00 RPM
TSI_NA20513 0 .00 RPM
TSI_NA20518 0 .19 RPM
TSI_NA20532 0 .00 RPM
TSI_NA20538 0 .00 RPM
TSI_NA20756 0 .00 RPM
TSI_NA20765 0 .00 RPM
TSI_NA20771 0 .03 RPM
TSI_NA20786 0 .03 RPM
TSI_NA20798 0 .03 RPM
YRI_NA18870 0 .03 RPM
YRI_NA18907 0 .00 RPM
YRI_NA18916 0 .00 RPM
YRI_NA19093 0 .05 RPM
YRI_NA19099 0 .03 RPM
YRI_NA19114 0 .00 RPM
YRI_NA19118 0 .00 RPM
YRI_NA19213 0 .02 RPM
YRI_NA19214 0 .00 RPM
YRI_NA19223 0 .02 RPM


Indel association:

No indels were associated with its genomic coordinates. Based on Kabza et al. 2015 (PubMed).




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