RetrogeneDB ID:

retro_hsap_3952

Retrocopy
location
Organism:Human (Homo sapiens)
Coordinates:8:51403354..51404036(+)
Located in intron of:ENSG00000147481
Retrocopy
information
Ensembl ID:ENSG00000254392
Aliases:None
Status:KNOWN_PSEUDOGENE
Parental gene
information
Parental gene summary:
Parental gene symbol:F3
Ensembl ID:ENSG00000117525
Aliases:F3, CD142, TF, TFA
Description:coagulation factor III (thromboplastin, tissue factor) [Source:HGNC Symbol;Acc:3541]


Retrocopy-Parental alignment summary:






>retro_hsap_3952
CTGGCAACTCCAGCCTGGGCCTGGGTCCCACGTCCTGAGACTGCCTTAGCTCAGATGCTCCTGCTCCGCCAGGTCCTCCT
CAAGGCGGCTACTGCTTCTGGCACTGCAGATAGAGTGGTAGCATATAATGTATAATCAACGAATTTCAAGACAATTTTGG
AGCTGGAACCCAAGCCTATCAATCATGTCTACATTGCTCAGACAAGCTCTGCATCAGGAGACTGGAAAAGCCATGCTTGG
AAACCTTGGACACAGAGAGCGACCTCACAGATGGAACAGCAAGGACGTGACACAGATGTCCTTGGCCCAGGGCCCTTCCT
GCCCCGCTGGGGATGCAGCCACCACGGGTTCTGCCGGGAACCTCTGATCCCAAGCTCCCCAGAGTTTACACGTGACCTGG
AGACACACCTCGGACAGCCAACAATTCAGTATTTTGAATCAGTCGGGACAAAACAACGTGACAGTATCAGAATGACGTAC
CTTAGAAAGAATGACATATTCCTAGGCCTCTGGGAGTTTGCGACAAGTACTTAAGTTGTACACTTTATTATTGGAAAGCT
TCATGTACGGGAAAGAAAACAGCCAAGACAAACACAAATGCGTTTTTGATGGATATGGATAAAGGGGAAACCACCGTTCC
AATGTTCAAGCAGTGATTCCATCCGAAGACTACACAAGACGA

ORF - retro_hsap_3952 Open Reading Frame is not conserved.
Retrocopy - Parental Gene Alignment summary:
Percent Identity: 58.4 %
Parental protein coverage: 78.98 %
Number of stop codons detected: 1
Number of frameshifts detected 5


Retrocopy - Parental Gene Alignment:

ParentalMETPAWPRVPRPETAVARTLLLGWVFAQVAGASGTTNTVAAYNLTWKSTNFKTILEWEPKPVNQVYTVQI
..TPAW..VPRPETA.A..LLL..V....A.ASGT...V.AYN....STNFKTILE.EPKP.N.VY..Q.
RetrocopyLATPAWAWVPRPETALAQMLLLRQVLLKAATASGTADRVVAYNV*--STNFKTILELEPKPINHVYIAQT
ParentalSTKSGDWKSK-CFYTTDTECDLTDEIV-KDVKQTYLARVFSYPAGNVESTGSAG-EPLYENSPEFTPYLE
S..SGDWKS..C..T.DTE.DLTD....KDV.Q..LA...S.PAG....TGSAG.EPL...SPEFT..LE
RetrocopySSASGDWKSH<CLETLDTESDLTDGTA<KDVTQMSLAQGPSCPAGDAATTGSAG<EPLIPSSPEFTRDLE
ParentalTNLGQPTIQSFEQVGTKVNVTVEDERTLVRRNNTFLSLRD-VFGKDLIYTLYYWKSSSSGKKTAKTNTNE
T.LGQPTIQ.FE.VGTK.........T..R.N..FL.L...V..K.L..TLYYWK.S..GKKTAKTNTN.
RetrocopyTHLGQPTIQYFESVGTKQRDSIR--MTYLRKNDIFLGLWE<VCDKYLSCTLYYWKASCTGKKTAKTNTNA
ParentalFLIDVDKGE-NYCFSVQAVIPSRTVNRK
FL.D.DKGE.N....VQAVIPS....R.
RetrocopyFLMDMDKGE<NHRSNVQAVIPSEDYTRR

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 214 .68 RPM
bodymap2_adrenal 0 .00 RPM 23 .21 RPM
bodymap2_brain 0 .12 RPM 276 .41 RPM
bodymap2_breast 0 .00 RPM 76 .38 RPM
bodymap2_colon 0 .00 RPM 42 .19 RPM
bodymap2_heart 0 .00 RPM 25 .29 RPM
bodymap2_kidney 0 .00 RPM 33 .87 RPM
bodymap2_liver 0 .00 RPM 3 .17 RPM
bodymap2_lung 0 .00 RPM 182 .84 RPM
bodymap2_lymph_node 0 .00 RPM 11 .86 RPM
bodymap2_ovary 0 .00 RPM 113 .46 RPM
bodymap2_prostate 0 .00 RPM 61 .17 RPM
bodymap2_skeletal_muscle 0 .00 RPM 4 .67 RPM
bodymap2_testis 0 .00 RPM 99 .98 RPM
bodymap2_thyroid 0 .00 RPM 99 .79 RPM
bodymap2_white_blood_cells 0 .00 RPM 0 .12 RPM
RNA Polymerase II actvity near the 5' end of retro_hsap_3952 was not detected
No EST(s) were mapped for retro_hsap_3952 retrocopy.
No TSS is located nearby retro_hsap_3952 retrocopy 5' end.
retro_hsap_3952 was not experimentally validated.

Retrocopy orthology:
Retrocopy retro_hsap_3952 has 2 orthologous retrocopies within eutheria group .

Species RetrogeneDB ID
Gorilla gorilla retro_ggor_2655
Pongo abelii retro_pabe_3256

Parental genes homology:
Parental genes homology involve 4 parental genes, and 5 retrocopies.

Species Parental gene accession Retrocopies number
Homo sapiens ENSG00000117525 1 retrocopy
retro_hsap_3952 ,
Gorilla gorilla ENSGGOG000000146831 retrocopy
Nomascus leucogenys ENSNLEG000000111121 retrocopy
Pongo abelii ENSPPYG000000011392 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_3952 across human populations is associated with 1 indel. The percentage values indicate the frequencies of retro_hsap_3952 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. 8:51402350..51405300 99.18 100 100 100 100 100 100 100 98.88 100 100 100 99.48 99.5


Indel #1, located at the genomic coordinates 8:51402350..51405300.

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 99.18 % Yoruba in Ibadan,Nigeria YRI 100 % Luhya in Webuye,Kenya LWK 100 % Utah Residents (CEPH)with Northern andWestern European Ancestry CEU 100 % Iberian Populationin Spain IBS 100 % British in Englandand Scotland GBR 98.88 % Finnish in Finland FIN 100 % Toscani in Italia TSI 100 % Han Chinese in Bejing,China CHB 99.48 % Japanese in Tokyo,Japan 100 % Southern Han Chinese CHS 99.5 % JPT EUROPE AMERICAS AFRICA EAST ASIA





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