RetrogeneDB ID:

retro_hsap_1095

Retrocopy
location
Organism:Human (Homo sapiens)
Coordinates:12:25120063..25120438(-)
Located in intron of:None
Retrocopy
information
Ensembl ID:ENSG00000213736
Aliases:None
Status:KNOWN_PSEUDOGENE
Parental gene
information
Parental gene summary:
Parental gene symbol:BRI3
Ensembl ID:ENSG00000164713
Aliases:BRI3, I3
Description:brain protein I3 [Source:HGNC Symbol;Acc:1109]


Retrocopy-Parental alignment summary:






>retro_hsap_1095
ATGGACCACAAACCTCTGCTGCAGAAGCGGCCTCTGGCCTACAACCTGGAGTCCGTCCAGGTCAACTATGCATGCTGCCT
GCACAGCTATGGCGCCAACCCTGCCAGCCCCCGCCAAGGCCCTACCCCTACCTCGTCACAGGGGTACCCACCCGCCACCC
CAGGGTCTACAACATCCACAGCCAGACCACCACCTGGTACCCTGCCAACTCCATCATGGTCATGGGAAGCTGTCCCGTCT
GCAGGGTCGGGGGTGCTGGAGGACTGCTTCAGCTCCCTGGGCATTTTCTTGGTCATCATCCTGTTCCCCTTTGGGTTCAT
CTGCCGTTTTGCCTTGAGGAAGCGAAGATGCCCCAACTGCGGAGAGACCTTCGCT

ORF - retro_hsap_1095 Open Reading Frame is not conserved.
Retrocopy - Parental Gene Alignment summary:
Percent Identity: 78.74 %
Parental protein coverage: 100. %
Number of stop codons detected: 0
Number of frameshifts detected 2


Retrocopy - Parental Gene Alignment:

ParentalMDHKPLLQERPPAYNLEAGQGDYACGPHGYGAIPAAP-PPPPYPYLVTGIPTHHPRVYNIHSRTVTRYPA
MDHKPLLQ.RP.AYNLE..Q..YAC..H.YGA.PA.P.PP.PYPYLVTG.PT.HPRVYNIHS.T.T.YPA
RetrocopyMDHKPLLQKRPLAYNLESVQVNYACCLHSYGANPASP<PPRPYPYLVTGVPTRHPRVYNIHSQTTTWYPA
ParentalNSIVVVGGCPVCRV-GVLEDCFTFLGIFLAIILFPFGFICCFALRKRRCPNCGATFA
NSI.V.G.CPVCRV.GVLEDCF..LGIFL.IILFPFGFIC.FALRKRRCPNCG.TFA
RetrocopyNSIMVMGSCPVCRV>GVLEDCFSSLGIFLVIILFPFGFICRFALRKRRCPNCGETFA

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 49 .79 RPM
bodymap2_adrenal 0 .00 RPM 36 .07 RPM
bodymap2_brain 0 .00 RPM 10 .97 RPM
bodymap2_breast 0 .00 RPM 39 .14 RPM
bodymap2_colon 0 .00 RPM 39 .16 RPM
bodymap2_heart 0 .00 RPM 39 .71 RPM
bodymap2_kidney 0 .00 RPM 30 .90 RPM
bodymap2_liver 0 .00 RPM 58 .75 RPM
bodymap2_lung 0 .00 RPM 78 .13 RPM
bodymap2_lymph_node 0 .00 RPM 54 .42 RPM
bodymap2_ovary 0 .00 RPM 27 .64 RPM
bodymap2_prostate 0 .00 RPM 74 .06 RPM
bodymap2_skeletal_muscle 0 .00 RPM 174 .26 RPM
bodymap2_testis 0 .00 RPM 38 .35 RPM
bodymap2_thyroid 0 .00 RPM 50 .26 RPM
bodymap2_white_blood_cells 0 .00 RPM 101 .22 RPM
RNA Polymerase II actvity near the 5' end of retro_hsap_1095 was not detected
No EST(s) were mapped for retro_hsap_1095 retrocopy.


TSS No. TSS Name TSS expression level (Expr) in TPM range:
no expression 0 < Expr ≤ 1 1 < Expr ≤ 5 5 < Expr ≤ 10 Expr > 10
TSS #1 TSS_24148755 libraries702 libraries352 libraries19 libraries1 library

The graphical summary, for retro_hsap_1095 TSS expression levels > 0 TPM .
TSS expression levels were studied across 1829 TSS-CAGE libraries, based on FANTOM5 data.
The expression values were visualized using beanplot. If you have any doubts, how to read it, read more in Kampstra P (2008)

retro_hsap_1095 was not experimentally validated.

Retrocopy orthology:
Retrocopy retro_hsap_1095 has 2 orthologous retrocopies within eutheria group .

Species RetrogeneDB ID
Pan troglodytes retro_ptro_698
Pongo abelii retro_pabe_910

Parental genes homology:
Parental genes homology involve 9 parental genes, and 15 retrocopies.

Species Parental gene accession Retrocopies number
Callithrix jacchus ENSCJAG000000152271 retrocopy
Homo sapiens ENSG00000164713 3 retrocopies
retro_hsap_1095 , retro_hsap_1811, retro_hsap_195,
Gorilla gorilla ENSGGOG000000096461 retrocopy
Microcebus murinus ENSMICG000000028881 retrocopy
Macaca mulatta ENSMMUG000000132752 retrocopies
Otolemur garnettii ENSOGAG000000006381 retrocopy
Pongo abelii ENSPPYG000000258153 retrocopies
Pan troglodytes ENSPTRG000000194361 retrocopy
Tursiops truncatus ENSTTRG000000157052 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 = 0.07 RPM Legend:


Library Retrogene expression
CEU_NA11831 0 .00 RPM
CEU_NA11843 0 .00 RPM
CEU_NA11930 0 .07 RPM
CEU_NA12004 0 .00 RPM
CEU_NA12400 0 .00 RPM
CEU_NA12751 0 .05 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 .03 RPM
GBR_HG00133 0 .02 RPM
GBR_HG00134 0 .02 RPM
GBR_HG00137 0 .00 RPM
GBR_HG00142 0 .03 RPM
GBR_HG00143 0 .03 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 .03 RPM
YRI_NA18907 0 .00 RPM
YRI_NA18916 0 .00 RPM
YRI_NA19093 0 .00 RPM
YRI_NA19099 0 .03 RPM
YRI_NA19114 0 .00 RPM
YRI_NA19118 0 .00 RPM
YRI_NA19213 0 .00 RPM
YRI_NA19214 0 .02 RPM
YRI_NA19223 0 .02 RPM


Indel association:

The presence of retro_hsap_1095 across human populations is associated with 1 indel. The percentage values indicate the frequencies of retro_hsap_1095 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. 12:25088940..25131900 100 100 100 100 100 100 98.82 100 100 100 100 100 100 100


Indel #1, located at the genomic coordinates 12:25088940..25131900.

image/svg+xml Mexican Ancestryfrom Los Angeles USA MXL 100 % Puerto Ricansfrom Puerto Rico PUR 100 % Colombians fromMedellin, Colombia CLM 100 % Americans of AfricanAncestry in SW USA ASW 100 % Yoruba in Ibadan,Nigeria YRI 100 % Luhya in Webuye,Kenya LWK 100 % Utah Residents (CEPH)with Northern andWestern European Ancestry CEU 98.82 % Iberian Populationin Spain IBS 100 % British in Englandand Scotland GBR 100 % Finnish in Finland FIN 100 % Toscani in Italia TSI 100 % 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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