RetrogeneDB ID:

retro_hsap_4837

Retrocopy
location
Organism:Human (Homo sapiens)
Coordinates:X:53483313..53483975(-)
Located in intron of:None
Retrocopy
information
Ensembl ID:ENSG00000235416
Aliases:None
Status:KNOWN_PSEUDOGENE
Parental gene
information
Parental gene summary:
Parental gene symbol:TIPIN
Ensembl ID:ENSG00000075131
Aliases:None
Description:TIMELESS interacting protein [Source:HGNC Symbol;Acc:30750]


Retrocopy-Parental alignment summary:






>retro_hsap_4837
ATGCTAGAATCACAGGAGAATGGCATGATTGACCTTCCAGATTATGAGCATGTAGAAGATGAAACTTTTCCTCCTTTCCC
ACCTCCAGCCTCTCCAGAGAGACAAGATGATGAAGGAGCTGAACCTGATAGTCAGGAAGTGGAGCACTTGTTCCTGTACC
TCCAAAGAGAGCAGTTAAAAGAAATATATCCGAGCTGGATGCTCACAGATTAATTTCAGAGAGAGGGCTTCCAGCCTTAA
GGCATGTATTTGATAAGGCAAAATTCAAAGGTAAAAGTCATGAGGCTGAAGACTTAAAGATGCTAATCAGACACATGGAA
CACTGGGCACGTAGGCGATTCCCTAAACTGCAGTTTGAGGATTTTATTGACAGAGTTGAATACCTGAGAAATAAAAAGGA
AATTCAGACCTGTTTAAAATGAATTCGACTTGATCTCCCTATTTTACATGAATATGTTGTTAGCAATAATGAGGAAGTTG
GGGAAAATAATGGACATTGTGTAACTGCTACTGAATTAGATCCCTTTCTGACAAACTCATCTGAAAGTGAGATGTTTGCT
TCTGAGTCAAGTAGAAGCCTAACAGATGAGCAACAACAAAGGATTGAGAGAAATAAACAACCGGCTTTGGAAAGAAGGCA
GGCAAAGCTGCTGAGTAATAGT

ORF - retro_hsap_4837 Open Reading Frame is not conserved.
Retrocopy - Parental Gene Alignment summary:
Percent Identity: 79.82 %
Parental protein coverage: 75.51 %
Number of stop codons detected: 1
Number of frameshifts detected 1


Retrocopy - Parental Gene Alignment:

ParentalMLEPQENGVIDLPDYEHVEDETFPPFPPPASPERQDGEGTEPDEE-SGNGAPVRVPPKRTVKRNIPKLDA
MLE.QENG.IDLPDYEHVEDETFPPF.PP.................SG.GA.V.VPPKR.VKRNI..LDA
RetrocopyMLESQENGMIDLPDYEHVEDETFPPF-PPPASPERQDDEGAEPDS<SGSGALVPVPPKRAVKRNISELDA
ParentalQRLISERGLPALRHVFDKAKFKGKGHEAEDLKMLIRHMEHWAHRLFPKLQFEDFIDRVEYLGSKKEVQTC
.RLISERGLPALRHVFDKAKFKGK.HEAEDLKMLIRHMEHWA.R.FPKLQFEDFIDRVEYL..KKE.QTC
RetrocopyHRLISERGLPALRHVFDKAKFKGKSHEAEDLKMLIRHMEHWARRRFPKLQFEDFIDRVEYLRNKKEIQTC
ParentalLKRIRLDLPILHEDFVSNNDEVAENNEHDVTSTELDPFLTNLSESEMFASELSRSLTEEQQQRIERNKQL
LK.IRLDLPILHE..VSNN.EV.ENN.H.VT.TELDPFLTN.SESEMFASE.SRSLT.EQQQRIERNKQ.
RetrocopyLK*IRLDLPILHEYVVSNNEEVGENNGHCVTATELDPFLTNSSESEMFASESSRSLTDEQQQRIERNKQP
ParentalALERRQAKLLSNS
ALERRQAKLLSNS
RetrocopyALERRQAKLLSNS

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 2 .52 RPM
bodymap2_adrenal 0 .02 RPM 7 .35 RPM
bodymap2_brain 0 .00 RPM 5 .20 RPM
bodymap2_breast 0 .00 RPM 4 .38 RPM
bodymap2_colon 0 .00 RPM 2 .17 RPM
bodymap2_heart 0 .00 RPM 1 .11 RPM
bodymap2_kidney 0 .00 RPM 3 .10 RPM
bodymap2_liver 0 .00 RPM 2 .53 RPM
bodymap2_lung 0 .00 RPM 1 .69 RPM
bodymap2_lymph_node 0 .00 RPM 3 .62 RPM
bodymap2_ovary 0 .00 RPM 8 .67 RPM
bodymap2_prostate 0 .00 RPM 5 .47 RPM
bodymap2_skeletal_muscle 0 .00 RPM 3 .76 RPM
bodymap2_testis 0 .00 RPM 22 .13 RPM
bodymap2_thyroid 0 .00 RPM 4 .54 RPM
bodymap2_white_blood_cells 0 .00 RPM 2 .46 RPM
RNA Polymerase II actvity near the 5' end of retro_hsap_4837 was not detected
No EST(s) were mapped for retro_hsap_4837 retrocopy.
No TSS is located nearby retro_hsap_4837 retrocopy 5' end.
retro_hsap_4837 was not experimentally validated.

Retrocopy orthology:
Retrocopy retro_hsap_4837 has 1 orthologous retrocopies within eutheria group .

Species RetrogeneDB ID
Pan troglodytes retro_ptro_3220

Parental genes homology:
Parental genes homology involve 10 parental genes, and 16 retrocopies.

Species Parental gene accession Retrocopies number
Choloepus hoffmanni ENSCHOG000000048601 retrocopy
Dasypus novemcinctus ENSDNOG000000031773 retrocopies
Homo sapiens ENSG00000075131 1 retrocopy
retro_hsap_4837 ,
Gorilla gorilla ENSGGOG000000000613 retrocopies
Loxodonta africana ENSLAFG000000260161 retrocopy
Microcebus murinus ENSMICG000000043862 retrocopies
Macaca mulatta ENSMMUG000000036951 retrocopy
Nomascus leucogenys ENSNLEG000000129091 retrocopy
Pan troglodytes ENSPTRG000000071922 retrocopies
Rattus norvegicus ENSRNOG000000430681 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 = 0.02 RPM Legend:


Library Retrogene expression
CEU_NA11831 0 .00 RPM
CEU_NA11843 0 .00 RPM
CEU_NA11930 0 .00 RPM
CEU_NA12004 0 .00 RPM
CEU_NA12400 0 .00 RPM
CEU_NA12751 0 .02 RPM
CEU_NA12760 0 .00 RPM
CEU_NA12827 0 .00 RPM
CEU_NA12872 0 .00 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 .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:

The presence of retro_hsap_4837 across human populations is associated with 1 indel. The percentage values indicate the frequencies of retro_hsap_4837 presence in various populations. Based on Kabza et al. 2015 (PubMed).


# Indel coordinates AFR, African AMR, Ad Mixed American EUR, European EAS, East Asian
ASW YRI LWK MXL PUR CLM CEU IBS GBR FIN TSI JPT CHB CHS
1. X:53478158..53491600 96.94 96.99 99.32 98.02 98.78 98.9 100 100 100 100 97.95 100 100 100


Indel #1, located at the genomic coordinates X:53478158..53491600.

image/svg+xml Mexican Ancestryfrom Los Angeles USA MXL 98.02 % Puerto Ricansfrom Puerto Rico PUR 98.78 % Colombians fromMedellin, Colombia CLM 98.9 % Americans of AfricanAncestry in SW USA ASW 96.94 % Yoruba in Ibadan,Nigeria YRI 96.99 % Luhya in Webuye,Kenya LWK 99.32 % Utah Residents (CEPH)with Northern andWestern European Ancestry CEU 100 % Iberian Populationin Spain IBS 100 % British in Englandand Scotland GBR 100 % Finnish in Finland FIN 100 % Toscani in Italia TSI 97.95 % Han Chinese in Bejing,China CHB 100 % Japanese in Tokyo,Japan 100 % Southern Han Chinese CHS 100 % JPT EUROPE AMERICAS AFRICA EAST ASIA





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