RetrogeneDB ID:

retro_hsap_163

Retrocopy
location
Organism:Human (Homo sapiens)
Coordinates:1:62654851..62655141(+)
Located in intron of:None
Retrocopy
information
Ensembl ID:ENSG00000234204
Aliases:None
Status:KNOWN_PSEUDOGENE
Parental gene
information
Parental gene summary:
Parental gene symbol:PIGP
Ensembl ID:ENSG00000185808
Aliases:PIGP, DCRC, DCRC-S, DSCR5, DSRC
Description:phosphatidylinositol glycan anchor biosynthesis, class P [Source:HGNC Symbol;Acc:3046]


Retrocopy-Parental alignment summary:






>retro_hsap_163
AGACTGTCTAAAGCCGTAGGATAGTCATGGAGAATTCACCATTACATCTGCCAGAAAGAGCAATGTATGGCTCTGTTCTT
TTCTTAAACTCCCAATTTGGCTTCATGCCTTGTCTACTATGGACTTTGGCTCCTGAATCTTGGCAAAATTCTTCATGCTT
AAATTATTGGCTTCAAAAATACTGGGCAGTTGCATTACCTGTCTACCTCCTTAGTACTATAGTAACCAGTTATGTACTCT
TTTTTGGCACTAAAGTAATGAGTATCTCTCTCTCCACTCAACTCCATTCG

ORF - retro_hsap_163 Open Reading Frame is not conserved.
Retrocopy - Parental Gene Alignment summary:
Percent Identity: 62.24 %
Parental protein coverage: 61.39 %
Number of stop codons detected: 0
Number of frameshifts detected 1


Retrocopy - Parental Gene Alignment:

ParentalRLSKAPG-KMVENSPSPLPERAIYGFVLFLSSQFGFILYLVWAFIPESWLNSLGLTYWPQKYWAVALPVY
RLSKA.G....ENSP..LPERA.YG.VLFL.SQFGF...L.W...PESW.NS..L.YW.QKYWAVALPVY
RetrocopyRLSKAVG<IVMENSPLHLPERAMYGSVLFLNSQFGFMPCLLWTLAPESWQNSSCLNYWLQKYWAVALPVY
ParentalLLIAIVIGYVLLFGINMMSTSPLDSIHT
LL..IV..YVL.FG...MS.S.....H.
RetrocopyLLSTIVTSYVLFFGTKVMSISLSTQLHS

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 10 .81 RPM
bodymap2_adrenal 0 .00 RPM 9 .15 RPM
bodymap2_brain 0 .00 RPM 9 .00 RPM
bodymap2_breast 0 .00 RPM 16 .56 RPM
bodymap2_colon 0 .00 RPM 23 .38 RPM
bodymap2_heart 0 .00 RPM 17 .06 RPM
bodymap2_kidney 0 .00 RPM 10 .48 RPM
bodymap2_liver 0 .00 RPM 12 .51 RPM
bodymap2_lung 0 .00 RPM 9 .34 RPM
bodymap2_lymph_node 0 .00 RPM 9 .67 RPM
bodymap2_ovary 0 .00 RPM 10 .18 RPM
bodymap2_prostate 0 .00 RPM 35 .51 RPM
bodymap2_skeletal_muscle 0 .00 RPM 25 .04 RPM
bodymap2_testis 0 .00 RPM 24 .13 RPM
bodymap2_thyroid 0 .00 RPM 16 .85 RPM
bodymap2_white_blood_cells 0 .00 RPM 11 .89 RPM
RNA Polymerase II actvity near the 5' end of retro_hsap_163 was not detected
No EST(s) were mapped for retro_hsap_163 retrocopy.
No TSS is located nearby retro_hsap_163 retrocopy 5' end.
retro_hsap_163 was not experimentally validated.

Retrocopy orthology:
Retrocopy retro_hsap_163 has 3 orthologous retrocopies within eutheria group .

Species RetrogeneDB ID
Pan troglodytes retro_ptro_156
Pongo abelii retro_pabe_464
Macaca mulatta retro_mmul_377

Parental genes homology:
Parental genes homology involve 22 parental genes, and 61 retrocopies.

Species Parental gene accession Retrocopies number
Canis familiaris ENSCAFG000000097024 retrocopies
Callithrix jacchus ENSCJAG000000026832 retrocopies
Cavia porcellus ENSCPOG000000071562 retrocopies
Equus caballus ENSECAG000000193491 retrocopy
Felis catus ENSFCAG000000284008 retrocopies
Homo sapiens ENSG00000185808 4 retrocopies
Gorilla gorilla ENSGGOG000000102753 retrocopies
Macaca mulatta ENSMMUG000000162112 retrocopies
Monodelphis domestica ENSMODG000000209881 retrocopy
Mustela putorius furoENSMPUG000000083125 retrocopies
Mus musculus ENSMUSG000000229401 retrocopy
Nomascus leucogenys ENSNLEG000000045234 retrocopies
Oryctolagus cuniculus ENSOCUG000000224513 retrocopies
Otolemur garnettii ENSOGAG000000110971 retrocopy
Pongo abelii ENSPPYG000000114093 retrocopies
Pan troglodytes ENSPTRG000000138973 retrocopies
Pteropus vampyrus ENSPVAG000000008573 retrocopies
Sarcophilus harrisii ENSSHAG000000142841 retrocopy
Sus scrofa ENSSSCG000000120611 retrocopy
Ictidomys tridecemlineatus ENSSTOG000000109435 retrocopies
Tarsius syrichta ENSTSYG000000098991 retrocopy
Tursiops truncatus ENSTTRG000000077113 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 ) 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 .00 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_163 across human populations is associated with 3 indels. The percentage values indicate the frequencies of retro_hsap_163 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. 1:62654000..62657100 98.36 100 97.94 81.82 95.45 90 96.47 100 97.19 96.24 96.94 61.8 65.46 66
2. 1:62654661..62657800 100 100 97.94 86.36 96.36 90.83 96.47 100 97.75 96.24 96.94 71.91 76.29 75
3. 1:62654736..62657200 98.36 100 97.94 81.82 95.45 90 96.47 100 97.19 96.24 96.94 60.11 65.46 65.5


Indel #1, located at the genomic coordinates 1:62654000..62657100.

image/svg+xml Mexican Ancestryfrom Los Angeles USA MXL 81.82 % Puerto Ricansfrom Puerto Rico PUR 95.45 % Colombians fromMedellin, Colombia CLM 90 % Americans of AfricanAncestry in SW USA ASW 98.36 % Yoruba in Ibadan,Nigeria YRI 100 % Luhya in Webuye,Kenya LWK 97.94 % Utah Residents (CEPH)with Northern andWestern European Ancestry CEU 96.47 % Iberian Populationin Spain IBS 100 % British in Englandand Scotland GBR 97.19 % Finnish in Finland FIN 96.24 % Toscani in Italia TSI 96.94 % Han Chinese in Bejing,China CHB 65.46 % Japanese in Tokyo,Japan 61.8 % Southern Han Chinese CHS 66 % JPT EUROPE AMERICAS AFRICA EAST ASIA


Indel #2, located at the genomic coordinates 1:62654661..62657800.

image/svg+xml Mexican Ancestryfrom Los Angeles USA MXL 86.36 % Puerto Ricansfrom Puerto Rico PUR 96.36 % Colombians fromMedellin, Colombia CLM 90.83 % Americans of AfricanAncestry in SW USA ASW 100 % Yoruba in Ibadan,Nigeria YRI 100 % Luhya in Webuye,Kenya LWK 97.94 % Utah Residents (CEPH)with Northern andWestern European Ancestry CEU 96.47 % Iberian Populationin Spain IBS 100 % British in Englandand Scotland GBR 97.75 % Finnish in Finland FIN 96.24 % Toscani in Italia TSI 96.94 % Han Chinese in Bejing,China CHB 76.29 % Japanese in Tokyo,Japan 71.91 % Southern Han Chinese CHS 75 % JPT EUROPE AMERICAS AFRICA EAST ASIA


Indel #3, located at the genomic coordinates 1:62654736..62657200.

image/svg+xml Mexican Ancestryfrom Los Angeles USA MXL 81.82 % Puerto Ricansfrom Puerto Rico PUR 95.45 % Colombians fromMedellin, Colombia CLM 90 % Americans of AfricanAncestry in SW USA ASW 98.36 % Yoruba in Ibadan,Nigeria YRI 100 % Luhya in Webuye,Kenya LWK 97.94 % Utah Residents (CEPH)with Northern andWestern European Ancestry CEU 96.47 % Iberian Populationin Spain IBS 100 % British in Englandand Scotland GBR 97.19 % Finnish in Finland FIN 96.24 % Toscani in Italia TSI 96.94 % Han Chinese in Bejing,China CHB 65.46 % Japanese in Tokyo,Japan 60.11 % Southern Han Chinese CHS 65.5 % JPT EUROPE AMERICAS AFRICA EAST ASIA





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