Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

Summary

Retrocopy Name SLC19A3P1
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Plot displaying the genomic locations of a retrocopy (in chr7) and its respective parental gene (in chr2). Each line represents a retrocopy.
Species Homo sapiens
Coordinates (hg38) chr7:55245004-55245233  UCSC
Coordinates (T2T) chr7:55405573-55405802  UCSC
Coordinates (hg19) chr7:55312697-55312926  UCSC
Strand +
Parental Sequence NM_001371414.1
Parental seq. overlap 187 bp
Parental seq. overlap (%) 3.2%
Genomic Region Intergenic
Retrocopy Summary SLC19A3P1, located on chr7:55245004-55245233, is a retrocopy of the parental gene SLC19A3. Retrocopies of protein-coding genes, also known as processed pseudogenes, are intriguing genomic elements with implications in genome evolution and diseases. While some retrocopies are non-functional, there are examples of retrocopies (retrogenes) acquiring regulatory roles or exhibiting neofunctionalization unrelated to their parental genes.

Parental Gene

Gene Name SLC19A3
Full Name solute carrier family 19 member 3
Also known as BBGD|THMD2|THTR2|hTHTR2|thTr-2
Coordinate chr2:227683763-227718030
Strand -
Gene summary This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild cognitive disability, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy.[provided by RefSeq, Jan 2010]

Homology

Species Scientific Name Retrocopy
Chimpanzee Pan troglodytes SLC19A3P1
Gorilla Gorilla gorilla LOC101137672P1
Orangutan Pongo abelii SLC19A3P1
Golden snub-nosed monkey Rhinopithecus roxellana SLC19A3P1
Bonobo Pan paniscus Without Homology
Gibbon Nomascus leucogenys Without Homology
Green monkey Chlorocebus sabaeus Without Homology
Crab-eating macaque Macaca fascicularis Without Homology
Rhesus Macaca mulatta Without Homology
Baboon Papio anubis Without Homology
Marmoset Callithrix jacchus Without Homology
Mouse lemur Microcebus murinus Without Homology
Mouse Mus musculus Without Homology
Rat Rattus norvegicus Without Homology
Chinese hamster Cricetulus griseus Without Homology
Rabbit Oryctolagus cuniculus Without Homology
Pig Sus scrofa Without Homology
Cow Bos taurus Without Homology
Sheep Ovis aries Without Homology
Dolphin Tursiops truncatus Without Homology
Horse Equus caballus Without Homology
Dog Canis familiaris Without Homology
Panda Ailuropoda melanoleuca Without Homology
Cat Felis catus Without Homology
Pale spear-nosed bat Phyllostomus discolor Without Homology
Velvety free-tailed bat Molossus molossus Without Homology
Greater mouse-eared bat Myotis myotis Without Homology
Kuhl's pipistrelle Pipistrellus kuhlii Without Homology
Greater horseshoe bat Rhinolophus ferrumequinum Without Homology
Egyptian rousette Rousettus aegyptiacus Without Homology
Sloth Choloepus didactylus Without Homology
Tasmanian Devil Sarcophilus harrisii Without Homology
Opossum Monodelphis domestica Without Homology
Platypus Ornithorhynchus anatinus Without Homology
Chicken Gallus gallus Without Homology
Turkey Meleagris gallopavo Without Homology
Zebra Finch Taeniopygia guttata Without Homology
Budgerigar Melopsittacus undulatus Without Homology
Painted Turtle Chrysemys picta Without Homology
Lizard Anolis Carolinensis Without Homology
Frog Xenopus tropicalis Without Homology
Zebrafish Danio rerio Without Homology
Drosophila Drosophila melanogaster Without Homology

Expression

The Genotype-Tissue Expression project - (GTEx)

Adipose SubcutaneousMuscle SkeletalArtery TibialArtery CoronaryHeart Atrial AppendageAdipose VisceralUterusVaginaBreast Mammary TissueSkin Not Sun ExposedMinor Salivary GlandBrain CortexAdrenal GlandThyroidLungSpleenPancreasEsophagus MuscularisEsophagus MucosaEsophagus Gastroesophageal JunctionStomachColon SigmoidSmall Intestine Terminal IleumColon TransverseProstateTestisNerve TibialSkin Sun ExposedHeart Left VentricleBrain CerebellumWhole BloodArtery AortaPituitaryBrain Frontal CortexBrain CaudateBrain Nucleus AccumbensBrain PutamenBrain HypothalamusBrain Spinal CordBrain HippocampusBrain Anterior Cingulate CortexOvaryBrain Cerebellar HemisphereLiverBrain Substantia NigraKidney CortexBrain AmygdalaCervix EctocervixFallopian TubeCervix EndocervixBladderKidney Medulla00.20.4
log10(TPM+1)

Massive Mining of Publicly Available RNA-seq Data from Human and Mouse - (ARCHS4)

AdiposeBone MarrowBreast Mammary TissueBrain CerebellumColonColon Colonic MucosaEsophagusHeartHeart VentricleKidneyLiverBrain MidbrainOvaryPancreasBrain PonsKidney CortexEye RetinaMuscle SkeletalSkinSmall IntestineBrain Spinal CordSpleenTestisThymusTracheaHeart ValveMuscle Smooth012
log10(TPM+1)

Related Sequence

>SLC19A3P1
ATGGTTCCAAGATTTGAAGTAGTGTTACTCCTCAGAGGCCTTTGTTACTAATCCCCACGGTGGGCTTTTTCCACCACAGGTTTTAACCTAGCTTTGAACTATGTTCAAGTCCTATGAGGTTGCAAAGCACCACCCCAATATTCTTATACCTATAACGGGGCACAGAAGCTACTGAAGCATTTGGTAGGGCTGTGGCTGCCTGTGCAGTGGGCTATGTGAAAATCAACTGG
>NM_001371414.1
TTGTTGTTATTAACACAGTCGTTctctgttgcccaggttggggtgcagtggcatgatctccactcactgcaacctccatctcccgggttcaagtgattctcctgcctcagccacccaagtagctgggattacaggcacccaccaccgcaaccgactaatttttgcgttattagtagagatggggtttcactctgttggccaggctagtcttgaactcctgacctcaggtgatccacctgcctcagcctcccaaagcgctgggattacaagcatgagccactacacccagccTTTTAAAATTTTTAATCTACCGTTTACACAGTGTTCTTGTACCTTTTTAAAAAGTGATAGAGCTTATAATAATGGGTGAAGATGACTGCTACAGGAGTAACTTTTAAAAGGACTATCTTGTGATTTGGAACACACAGAAAATGAAGGGGAAAGGTAAACATCTGGCTTTCACAGCCATGGATTGTTACAGAACTTCACTAAGCAGTTCCTGGATTTACCCCACTGTGATCCTCTGCTTATTTGGTTTTTTCTCCATGATGAGACCCTCAGAACCATTCCTTATCCCATATTTATCTGGACCAGATAAAAACCTGACCAGTGCAGAGGTTGAAGCATGCCACAATTAAGACAACAAAGGACAGATGCAGGGTCAGAAGCAACTCAATGAATCCACTGGGTTCTGCTTCTCGAGCCACTGTGGACCAGTTAACAGACCTTCCCTCCAAGGAGCAGCTCAGTTGTGTGGTCTTTGCTCTGTGGCCTCCTGCTTTCTCCAGCAACCTCAGTGATCCAGGTGTCAAGATAACAAATGAGATCTTCCCCGTTTGGACATACTCCTACCTGGTGCTGCTGCTGCCTGTGTTTGTCCTCACCGATTATGTCCGCTACAAGCCAGTCATCATCTTGCAAGGTATCAGTTTCATCATTACCTGGCTGCTGCTGTTGTTTGGCCAAGGAGTGAAGACCATGCAGGTTGTAGAGTTCTTCTATGGGATGGTCACCGCCGCCGAGGTGGCCTACTACGCCTACATATACAGCGTGGTCAGCCCCGAGCACTACCAGAGAGTGAGCGGCTACTGCAGGAGCGTCACGCTGGCCGCCTACACAGCAGGGTCGGTGCTGGCTCAACTCTTGGTATCCCTGGCGAACATGTCGTACTTTTACCTCAACGTCATATCCTTGGCCTCTGTCTCCGTGGCTTTCCTTTTCTCACTTTTCCTACCAATGCCCAAGAAAAGCATGTTTTTTCATGCAAAACCCAGCAGAGAAATAAAGAAGTCATCAAGCGTGAATCCAGTATTAGAGGAAACTCACGAAGGTGAAGCACCAGGCTGTGAAGAGCAGAAACCCACATCAGAAATACTCAGCACTTCAGGGAAGCTGAATAAGGGCCAGCTGAACAGCCTGAAACCAAGCAATGTGACTGTGGACGTTTTTGTGCAGTGGTTCCAAGATTTGAAGGAGTGCTACTCCTCAAAACGTCTTTTCTACTGGTCTCTATGGTGGGCTTTCGCCACAGCAGGTTTTAACCAGGTTTTGAACTATGTTCAAATCCTGTGGGATTACAAGGCGCCATCCCAAGATTCTTCCATCTATAATGGGGCCGTAGAAGCTATTGCAACCTTTGGAGGGGCTGTGGCTGCCTTTGCAGTGGGTTATGTGAAAGTCAACTGGGACCTTCTGGGAGAGCTGGCTCTGGTGGTCTTCTCAGTTGTCAATGCCGGTTCTTTATTTCTCATGCATTACACAGCCAATATCTGGGCGTGCTATGCTGGCTATTTGATATTCAAGTCCAGCTATATGCTTCTTATAACCATAGCAGTATTTCAGATTGCAGTTAATCTGAATGTGGAACGCTATGCCTTGGTATTTGGAATCAACACCTTTATTGCCTTGGTGATTCAGACCATCATGACTGTGATTGTAGTAGATCAGAGAGGGCTCAACTTGCCAGTCAGCATTCAGTTTTTAGTTTATGGGAGCTATTTTGCAGTAATTGCTGGAATTTTCCTAATGAGAAGCATGTATATTACCTACTCAACCAAATCCCAGAAGGATGTACAGAGCCCTGCTCCAAGTGAGAATCCAGATGTGTCTCACCCAGAGGAAGAGAGTAATATCATCATGTCAACAAAACTCTAACCTCATCGCAACAAACGCAACAGTGGCTTTCAAAGTTATGCAATAATAAGGAAAGATTTTGAGATGGGTGGCATATGTTTTGCCATAACTTGACATGCTTTGCAAATCTGGATTCCAATGGACCTTTCAAAACCACAACAAAACCTCAGTTTTAGATGAGTTCTCTATGTGACCAATTTTACTGGATGCAATTGACAGGACCCGTCATCATAATTAAACAACCCATATTGGGGACCCCCTGTGACTAGTAGCAGCTGGAAAATTCTGGTTTTTATCACTTGTAAAGACATGCAGATGGCGTGGAACCAAACCATGAGAAAACTCCAGCCATCCTGGAGTTGATATTCACCATTTGTGAGGAGAAATACTAACTGGACTGACCCTATTGCTAGGCTTAAATACTTATTTGATCTTACCAAAGAAGTCAACACATGGGACCTTTGTGTCACATGAACCATTTTCTTTCCTCTTCTATTAAGTGTATTTCTGTTTAAGTTACAGTTCTCTAAGAGAATTACAATGTTTGTCCCATTTCTAAGGGCTTCTCTTCAACTCTAATAACAGCATTATTCACGttatgatttgatagtattattatttaatttttttatgattattTTCCATTTTGTGCTCTGAGTTTTGCTGTTGAAAGTCTCCCTCAAGAATAGCTTCAGATCCTCTTGTGTATTTGCAGAATACACAAGGTCATTTCCCAGTGGCCTGGGAGAGGCAGTGAGCCTTCTCTCCACCACCATAGACAGGTGTTAATGCATCTATGggccaggtgcagtggctcactcctgtaatccgagcaatttgggaggccaaggtgggagttttgcttgaggccagaggttcaagaccagcctgggcaacacagtgacacctgactctactaaaaaattaaaaaattagctgggcagcgtggtgtgtgcctgtagtctcagctacttgggaggccatggtgggaggatgggttgagcacaggagtcagaggctacagtgagctatgattgcaccattgcactccagcctgggcaacagagtaagactctCATCCCCCTCCTCCCAAAAAAGAGCACCTGTGTGGTGTCTGTCTAAAATAGGAAAACTTAAAGGAGGTTTCTAGAAGTATTAGAAATAAGAAAACACTGATGGGGGGAGTGGAATAAAACACCTGAttttgttttgttttggtttttgagacagtctcgctctctcacccaggctggaatgcaatggcgtgatcttggctcactgcaaacttcacctcctgagttcaagccattctcctacctcagcctcccaagtagctgggactatgggtgcacaccaccacgcctggctaatttttgtatttttagtggagatggggtttcacaatgttggccaggctggtctcaaactcctgacttcaggtgatctgtctgcctcggcctcccaaagagctgagattacaggcgtgagccaccatgcctggccAAAACACCTGATTTTTAAATGGTAGCAATTGTGCTAAATAAAATGTGTAAAAATTTTAAAGAGTTGTTAACATTTTTTGATGAATTCTGCTGAAAATTATCTGAACATACCTGTTTTTCGAAACTTCAAGAAACTTCAATAAGGGATGCATTGAGCAGTCTGACAGTGAGAATAAAGAATGCTGAGTCAAGATTTATATTAAggctggaagctgtggctcacacctgtaatcccagcattttgggaggctgaagtgagaggttaatttgagggtaggggtatgagaccatcttggccaatatagcaagaccctgtgtctaaaacaaacaaaaaaaTTTTTAATTGGATTTtgatatggtttggatctgtgtccccaccaaatctcacgttgaagtgtaatccccaatgttagaggtggggccggctgggaggcgactggatcatgggtgtgaagccttcatgaatggtttggcaccgtcccctcagtgctggtctcatgacagtgagttatcgtgagatctggtagtttaaaagtgtgtagcacctccccactctctctttctcctgctttggccacgtgaagatgcctgctcccactttgccttctgccatgagtaaaaattccccgaggactccctagaagcagatgttgccacgcttcctatatagcctgtgagctaattaaaccccttttcttacaaactatctagtctcaggtgtttctttatagcaatgtgataatggactaataTGTTTCTCAAGTATACTCCTCTCCAAATCCCGAAATTCTTCACTGGACTAAGATCCAGCCCAAGAATCAATGCACTCACTTAGTGGAGAAAACTAATAACATTCCTACTTACATTAAAGGCAAGGAAGGAATGGCCGCTATTCTTTTTCTTCTTCttctttttttttttttttttttttttttgatagaatcttgctctgtcacccaggctggagtgcaatgacgcaatgtcagctcactgcaacctccgcctcccgggttcaagcaattctcctgcctcagcctcccgagtagctgggattacaggcgtgcaccaccatgcccggctgatttttgtatatttagtagagacggggtttcaccatgttggtcaggctggtttcaaactcctggtctcaggtgatccgcccgtctcggtctcccaaagtgttgggattacaggcttcagccaccTCACACCCAGTCTATTATCCTTCTTTTTTAACTTATTATTCTGGAGGCATTAGGCATCACAATTAGACAAACAAGAAAAATCAGAGGTCAGAAATTGGAAAGGAggccaggtgcagtggctcacgcctgtaatcccaacactttgggaggctgaggcggtcagatcacatgaggccaggaattggaggcaagcctgggcaacatgatgaaaccctgtatgtactaaaaacaacaaaattagccgggtgtggtccatgcctgtaatcccagccactcggtggctgaagcataagagtcacttaaacccaggaggcagaggttgcagtgagttgagattgtgccactgcactccagcctgagcgacagagtgagacccAAAGTGGATTAAAAAATGCATTATGATTCCTTCACATATTCACCTATAACAAAATTAACTGCTaaaaaatgaggaagatctttagtgacacagaactctaagagctctactatcaagtggaaaaaagtcaagcaccaaaataataatgaacgcagcaactcagcatttgtataaaaaggacaaaaatatctgtattggcttatatatgcgtataacttttctaaaaagacaAATGAggcctggcacggtggctcatgcctgtaatcctggcactttgggaggctgaggtaggtggattgcttgagttcaggagttcaaaaccagcctaggcaacatggcaaaaccctgtctctacaaaaaatacaaaaattagctgggcatggtggcttgcacctggactcccagctacttgaggggatgagaagggaggatcgcttgagcccaggaggtggaggttgcagtgagctgagatcatgccactgcactccagccctgatgacagagtgagaccctgtcttgaacaaacaaaCCaacaatcaaacaaataaataaacaaCTGAAACTCATACCAA

Publications

PMID - Link Title
No publications available for this retrocopy