RetrogeneDB ID:

retro_hsap_985

Retrocopy
location
Organism:Human (Homo sapiens)
Coordinates:12:33138773..33140001(+)
Located in intron of:None
Retrocopy
information
Ensembl ID:ENSG00000257316
Aliases:None
Status:KNOWN_PSEUDOGENE
Parental gene
information
Parental gene summary:
Parental gene symbol:ASS1
Ensembl ID:ENSG00000130707
Aliases:ASS1, ASS, CTLN1
Description:argininosuccinate synthase 1 [Source:HGNC Symbol;Acc:758]


Retrocopy-Parental alignment summary:






>retro_hsap_985
ATGTCCAGAAAAGGCTCTGTGGTTCTGGCCTACAGTGGTGGCCTGGACACCTCCTGCATCCTCCTGTAGCTGAAGGAACA
AGGCTATGATGTCATTGCCTACCTGGCCAACATTAGCCAGAAGGAAGATTTCAAGGAAACCAGGAAGAAGCATTGAAGCT
TGGGGCCAAAAAGGTGTTCATTGAGGATGTCAGCAGGGAGTTTGTGGAGGAGTTCATCTGGCCAGCCATCCAGTTCAGCG
CACTGCATGAGGACCGCTACCTCCTGGGCACTTCTCTCACCAGGCCCTGCATCGCCTGCAAACAAGTGGAAATTGCCCAC
CGGGAGGGGGCCAAGTATGTGTCCCATGGCGTCACGGGAAAGGGGAGCGATCAGGTCCAGTTTGAGCTCAACTGCTACTC
GCTGGCTCCCCAGATAAAGGTCATTGCTCCCTGGAGCATGCCTGAGTTCTACAACCGGTTCAAGGGCCACAACGACCTGA
TGGAATACGCAAAGCACCACGGGATTCCCATCCTGGTCACTCCCAAGAACCTGTGGAGCATGAACAAGAACCTCATGCAC
ATCAGCTACGAGGCTGGAATCCTGGAGAATCCCAAGAACCAAGCGCCTCCAGGTCTCTACGCGAAGACCCAGGACCCGGC
CCCCAACACCCCTGACATTCTCGAGATTGAGTTAAAAAAGGGGTCCCCGTGAAGGTGACTGACATCAAGGATGGCTCCAC
CTACCAGACCTCCTTGGAGCTCTTCATGTACCTGAACGAAGTCGCGGGCAAACACGGCGTGGGCCGTACTGACATCGTGG
AGAACCGCTTTATTGGAATGAAGTCTCGAGGTATCTAGGAGGCCCCGGCAGGCACCATCCTTTACCACGCTCATTTAGAC
ATCAAGGCCTTCACCATGGACTGGGAAGTGCACAAAATCAAACAAGGCCTGGGCTTGAAATTTGCTGAGCTGGTATATAC
CGGTTTCTGGCACAGCACTGAGTGTGAATTTGCCTGCCACTGCTTCGCCAAGTCCCAGGAGCCAGTGGAAGGGAAAGTGC
AGGTGTCTGTCTTCAAGGGCCAGGTGTACATCCTCGGCCGGTAGTCCCCACTGTCTCTCTACAATGAAAAGCTGGTGAGC
GTGAACATGCAGGGTGATTATGAGCCAATTGATGCTACTGGTTTCATCAACATCAGTTCCCTCAGGCTGAAGGAATATCA
TCATCTCCAGAGCAAGGTCACTGCCAAA

ORF - retro_hsap_985 Open Reading Frame is not conserved.
Retrocopy - Parental Gene Alignment summary:
Percent Identity: 87.68 %
Parental protein coverage: 100. %
Number of stop codons detected: 3
Number of frameshifts detected 2


Retrocopy - Parental Gene Alignment:

ParentalMSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKK-ALKLGAKKVFIEDVSREFV
MS.KGSVVLAYSGGLDTSCIL..LKEQGYDVIAYLANI.QKEDF.E.RKK.ALKLGAKKVFIEDVSREFV
RetrocopyMSRKGSVVLAYSGGLDTSCILL*LKEQGYDVIAYLANISQKEDFKETRKK<ALKLGAKKVFIEDVSREFV
ParentalEEFIWPAIQSSALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQI
EEFIWPAIQ.SAL.EDRYLLGTSL.RPCIA.KQVEIA.REGAKYVSHG.TGKG.DQV.FEL.CYSLAPQI
RetrocopyEEFIWPAIQFSALHEDRYLLGTSLTRPCIACKQVEIAHREGAKYVSHGVTGKGSDQVQFELNCYSLAPQI
ParentalKVIAPWRMPEFYNRFKGRNDLMEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTK
KVIAPW.MPEFYNRFKG.NDLMEYAK.HGIPI.VTPKN.WSM..NLMHISYEAGILENPKNQAPPGLY.K
RetrocopyKVIAPWSMPEFYNRFKGHNDLMEYAKHHGIPILVTPKNLWSMNKNLMHISYEAGILENPKNQAPPGLYAK
ParentalTQDPAKAPNTPDILEIEFKKG-VPVKVTNVKDGTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKS
TQDPA..PNTPDILEIE.KKG.VPVKVT..KDG.T.QTSLELFMYLNEVAGKHGVGR.DIVENRFIGMKS
RetrocopyTQDPA--PNTPDILEIELKKG<VPVKVTDIKDGSTYQTSLELFMYLNEVAGKHGVGRTDIVENRFIGMKS
ParentalRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAELVYTGFWHSPECEFVRHCIAKSQERVEGK
RGI.E.PAGTILYHAHLDI.AFTMD.EV.KIKQGLGLKFAELVYTGFWHS.ECEF..HC.AKSQE.VEGK
RetrocopyRGI*EAPAGTILYHAHLDIKAFTMDWEVHKIKQGLGLKFAELVYTGFWHSTECEFACHCFAKSQEPVEGK
ParentalVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLKEYHRLQSKVTAK
VQVSV.KGQVYILGR.SPLSLYNE.LVS.N.QGDYEP.DATGFINI.SLRLKEYH.LQSKVTAK
RetrocopyVQVSVFKGQVYILGR*SPLSLYNEKLVSVNMQGDYEPIDATGFINISSLRLKEYHHLQSKVTAK

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 .02 RPM 238 .28 RPM
bodymap2_adrenal 0 .00 RPM 46 .81 RPM
bodymap2_brain 0 .00 RPM 23 .44 RPM
bodymap2_breast 0 .00 RPM 183 .45 RPM
bodymap2_colon 0 .00 RPM 77 .38 RPM
bodymap2_heart 0 .00 RPM 33 .05 RPM
bodymap2_kidney 0 .00 RPM 245 .71 RPM
bodymap2_liver 0 .00 RPM 432 .27 RPM
bodymap2_lung 0 .00 RPM 79 .76 RPM
bodymap2_lymph_node 0 .00 RPM 41 .15 RPM
bodymap2_ovary 0 .00 RPM 93 .22 RPM
bodymap2_prostate 0 .00 RPM 119 .92 RPM
bodymap2_skeletal_muscle 0 .00 RPM 31 .65 RPM
bodymap2_testis 0 .06 RPM 118 .38 RPM
bodymap2_thyroid 0 .00 RPM 69 .49 RPM
bodymap2_white_blood_cells 0 .00 RPM 0 .18 RPM
RNA Polymerase II actvity near the 5' end of retro_hsap_985 was not detected
No EST(s) were mapped for retro_hsap_985 retrocopy.
No TSS is located nearby retro_hsap_985 retrocopy 5' end.
retro_hsap_985 was not experimentally validated.

Retrocopy orthology:
Retrocopy retro_hsap_985 has 3 orthologous retrocopies within eutheria group .

Species RetrogeneDB ID
Pan troglodytes retro_ptro_762
Gorilla gorilla retro_ggor_787
Pongo abelii retro_pabe_834

Parental genes homology:
Parental genes homology involve 8 parental genes, and 68 retrocopies.

Species Parental gene accession Retrocopies number
Callithrix jacchus ENSCJAG000000205543 retrocopies
Homo sapiens ENSG00000130707 14 retrocopies
Gorilla gorilla ENSGGOG000000102288 retrocopies
Myotis lucifugus ENSMLUG000000060662 retrocopies
Mus musculus ENSMUSG000000764411 retrocopy
Nomascus leucogenys ENSNLEG0000001250013 retrocopies
Pongo abelii ENSPPYG0000001969213 retrocopies
Pan troglodytes ENSPTRG0000002147314 retrocopies

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 = 0.03 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 .00 RPM
CEU_NA12873 0 .03 RPM
FIN_HG00183 0 .00 RPM
FIN_HG00277 0 .00 RPM
FIN_HG00315 0 .00 RPM
FIN_HG00321 0 .00 RPM
FIN_HG00328 0 .00 RPM
FIN_HG00338 0 .00 RPM
FIN_HG00349 0 .00 RPM
FIN_HG00375 0 .00 RPM
FIN_HG00377 0 .00 RPM
FIN_HG00378 0 .00 RPM
GBR_HG00099 0 .00 RPM
GBR_HG00111 0 .00 RPM
GBR_HG00114 0 .00 RPM
GBR_HG00119 0 .00 RPM
GBR_HG00131 0 .00 RPM
GBR_HG00133 0 .00 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 .00 RPM
TSI_NA20532 0 .00 RPM
TSI_NA20538 0 .00 RPM
TSI_NA20756 0 .00 RPM
TSI_NA20765 0 .00 RPM
TSI_NA20771 0 .00 RPM
TSI_NA20786 0 .00 RPM
TSI_NA20798 0 .00 RPM
YRI_NA18870 0 .00 RPM
YRI_NA18907 0 .00 RPM
YRI_NA18916 0 .00 RPM
YRI_NA19093 0 .00 RPM
YRI_NA19099 0 .00 RPM
YRI_NA19114 0 .00 RPM
YRI_NA19118 0 .00 RPM
YRI_NA19213 0 .00 RPM
YRI_NA19214 0 .00 RPM
YRI_NA19223 0 .00 RPM


Indel association:

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




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