Imagem 1

Example: RPL12P6, GAPDH, ENSG00000237984

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Summary

Retrocopy Name MCFD2P1
Plot displaying the genomic locations of a retrocopy (in chr6) and its respective parental gene (in chr2). Each line represents a retrocopy.
Species Homo sapiens
Coordinates (hg38) chr6:27407722-27409113  UCSC
Coordinates (T2T) chr6:27276854-27278245  UCSC
Coordinates (hg19) chr6:27375501-27376892  UCSC
Strand +
Parental Sequence NM_001171506.2
Parental seq. overlap 1271 bp
Parental seq. overlap (%) 29.5%
Genomic Region Intergenic
Retrocopy Summary MCFD2P1, located on chr6:27407722-27409113, is a retrocopy of the parental gene MCFD2. 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 MCFD2
Full Name multiple coagulation factor deficiency 2, ER cargo receptor complex subunit
Also known as F5F8D|F5F8D2|LMAN1IP|SDNSF
Coordinate chr2:46901870-46941855
Strand -
Gene summary This gene encodes a soluble luminal protein with two calmodulin-like EF-hand motifs at its C-terminus. This protein forms a complex with LMAN1 (lectin mannose binding protein 1; also known as ERGIC-53) that facilitates the transport of coagulation factors V (FV) and VIII (FVIII) from the endoplasmic reticulum to the Golgi apparatus via an endoplasmic reticulum Golgi intermediate compartment (ERGIC). Mutations in this gene cause combined deficiency of FV and FVIII (F5F8D); a rare autosomal recessive bleeding disorder characterized by mild to moderate bleeding and coordinate reduction in plasma FV and FVIII levels. This protein has also been shown to maintain stem cell potential in adult central nervous system and is a marker for testicular germ cell tumors. The 3' UTR of this gene contains a transposon-like human repeat element named 'THE 1'. A processed RNA pseudogene of this gene is on chromosome 6p22.1. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2016]

Homology

Species Scientific Name Retrocopy
Chimpanzee Pan troglodytes MCFD2P1
Bonobo Pan paniscus MCFD2P1
Gorilla Gorilla gorilla MCFD2P1
Orangutan Pongo abelii MCFD2P1
Gibbon Nomascus leucogenys MCFD2P1
Green monkey Chlorocebus sabaeus MCFD2P1
Crab-eating macaque Macaca fascicularis MCFD2P1
Rhesus Macaca mulatta MCFD2P1
Baboon Papio anubis MCFD2P1
Golden snub-nosed monkey Rhinopithecus roxellana MCFD2P1
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

Related Sequence

>MCFD2P1
aGAAGATGTCATCAACAAACCAGAGGCGGAGATGTCACTACAAGATTTGCAGCTCCATTACTTCAAAATGCACGATTATGATGGCAATTATTTGCTTGATGGTTTAGAAATCTCCACAGCCATCACTCATATCTATAAGGAGAAAGGGAGTGAACAGGCACCACTAATGAGTGAAGATGAGCTGATTAACATAAGAGATGGTGTTTTGAGAGATGATGACAAGAACAATGATGGATACATTGACTATGCTGAATTTGCAAAATCACTGCAGTAGATGTTATTTGTTCATCTCTTGGTTATATGCAAATGTGACCTGGGATAATGTGATTGAATACTTTGATAATGCAAATTAACTCATTTCTAACTACTGCTGCAGCATTTTGGTAAAAACCTGTAGCAGTTTGTTACACTGGGGTGAGAAGGGATCAAGAGAAATGAAAGAGAGGAGAAATGGGACATCTAATAGTCCCTAAGCACTATTAAATACCTTATTGGACAAGGGCTTGCTTTTTAAAGCATCCTTTCAAGAATATTGAATAATTGGAGCTGAGAACTCAGGAGCTTCACTGTAGTAGAATACTGCTAGTTTCTTAATTTTAATTCATGTTACCTTAAAAGTAAAACAACAGGCTTTGCCAATTGGACGTTTTTCAGTAACAGTGAAGGAGTGGAGTGAATGCCAAATATTTGCCCTGGTGGTTCCTATCTCTTCAGTTAAACATGGTCAGTATTCTCTAAAGTTCCCCTGTCCTAAAAGACTACTTGCTCTGGGCAAATGGATATTTATTAGACTATTTCAAAGACACAGCATAAGAAGAATATCAAATATTGAGTTCAGCCTAGCCACAGAGTCTAAGATTCTGTATCCTCCAGCCCTCTAGCATTTTGGAAATGATACACTGCTAGCTTAAGTGATTAATCTTTTTCAGATTTTCAGTATTTTATACAACTTACTGCCATATCCTTATACTTTATTACTTTTCTGTCGTCTTCAACCTGGGAGAGATCTTGAATTTAAATGTTTTCTAATCAATAGTATTTTAGCTTTCTTTATATTTCTATTTCACTCTTGTTTCTAGGGTTTCCTTTTTTGCAGTTTAGGAACTTTTAGGAATGTCAGGACTTTATCAGCAGGGGTAAAACTACCAACTAGCCTAGCCTAAGTAGGAAGTGAAAAGATAATTCACCAAACAATGATTAACCTGATAGAAGTTCTATTCAGGAGGAATATTGTTTAAATTACCTCTTTTAGCCTGAATACATGGATTCTTTTCAAATCAGGAAAGATTAGAAAAGGAACCCTAAAAATCTTTTAACAGTGTGAATCTTAATAGTATGTGAAAATGAGAAGAAGTAACAGATGGTAATTTGGTTTATTGGATGTGATGGAC
>NM_001171506.2
AATgggcgggcggcagggagcgcgcgtgcgcagggcaggtcggggggggggggggggcggggCGAAGCCGAGGAAGAGCGTTTTGGGGACGGGGGCTGGTGAGGCTCACGTTGGAGGGCTTCGCGTCTGCTTCGGAGACCGTAAGGagatgggggtctgactgtgttgtctaggctgatctcaaactcctggcctcaagtgatcctcctgcctcagcctcccaaagtgctgggattacagATATTGATGACCATGAGATCCCTGCTCAGAACCCCCTTCCTGTGTGGCCTGCTCTGGGCCTTTTGTGCCCCAGGCGCCAGGGCTGAGGAGCCTGCAGCCAGCTTCTCCCAACCCGGCAGCATGGGCCTGGATAAGAACACAGTGCACGACCAAGAGCATATCATGGAGCATCTAGAAGGTGTCATCAACAAACCAGAGGCGGAGATGTCGCCACAAGAATTGCAGCTCCATTACTTCAAAATGCATGATTATGATGGCAATAATTTGCTTGATGGCTTAGAACTCTCCACAGCCATCACTCATGTCCATAAGGAGGAAGGGAGTGAACAGGCACCACTAATGAGTGAAGATGAACTGATTAACATAATAGATGGTGTTTTGAGAGATGATGACAAGAACAATGATGGATACATTGACTATGCTGAATTTGCAAAATCACTGCAGTAGATGTTATTTGGCCATCTCCTGGTTATATACAAATGTGACCCGTGATAATGTGATTGAACACTTTAGTAATGCAAAATAACTCATTTCCAACTACTGCTGCAGCATTTTGGTAAAAACCTGTAGCGATTCGTTACACTGGGGTgagaagagataagagaaatgaaagagaagagaaATGGGACATCTAATAGTCCCTAAGTGCTATTAAATACCTTATTGGACAAGGGCTTGCTTCAAGCATCtgtattagtctgtattaatgctgctgataaagacgtacccgagactgggaagaaaaagaggtttacttggacttacagttccacatggctggggaggcctcagaatcatggcgggaggtgaaaggcacttcttacatggcagcaagagaaaatgaggaagaagcaaaagtggaaacccctgataagccatcagatcttgtgaaacttattcactatcacaagaatagcatgggaaagactggcccccatgattcaattacctccccttgggtctctcccacaacacgtgggaattctggtagatacaatttcaagttgagatttgggtggggacatagccaaaccatatcattctacccctggcccctccaaatctcatgtcctcactattcaaaaccaatcatgccttcctaacagtcccccaaagtcttaactcttttcagcattaacgcaaaaatccacagtccaaagtctcatctgagacaaggcaagtcccttccacctatgagcctgtaaaatcaaaagcaagctagttacttcctagataccaacaggggtacaggtattgattaaagacggctgttccaaatgggagaaattggccaaaataaaggggttacagggcccatgcaagtccgaaatccagcagggctgtcaaattttaaagttccagaataatctcctttgactccaggtctcacatccaggtcatactgatgcaagaagtgggttcccatggtcttgggcagctctgcccctgtggctttgtagggtacagcctccctcctggctgctttcacggctgttgttcagtgcctgcggcttttccaggtgcacggtgcaagctgttggtggatctaccattctggggtctggaggacggtggccctcttctcacagctccactaggcagtgccccagtagggactctgtgtgggggctcccacaccacatttcccttctgcactgccctagcagaggttctctcccctgccgctgagagggcctctcccctgcagcaaacgtttgcctgggcattgaggcatttccatacatcttctgaaaactaggcggaggtttccaaatctcaattcttgacttctgtgcacctgcaggcttaacagcacatagaagctgccaaggcttggggcttccactctgaagccacagcccgagctgtatgttggcccctttcagccatggctggagtggctgggacacaagacaccaagtccctaggctgcacacacatgtcaggggctgccctgacatggcctggagacattttccccatggtgttggggattaacattaggctccttgctacttatgcaaatttctgcagctggcttgaatttctccccagaaaatgggtttttcttttctattgcatagtcaggctgcaaatttccaaacttttatgctttgcttcccttatttataagggaatgcctttaaaagcacccaagtcacctgttgaacactttgctgcttagaaatttcttccgctagttaacctaaatcatctctctcaagttcaaagttccacaaatccctatggaaggggcaaaatgctgccagtctctttgctaaaacataacaagagtcacctttactccagttcccaacaagttcctcatcttcatctgaggccacctcagcctggactttgttgtccatattgctatcagcatttggggcaaagccattcaacaagtctgtaggaagttccaaactttcccacattttcctgttttcttctgagccctccaaactgttccagcctctgcctgttacccagttccaaagtcacttccacattttgggtatttcttcagcaggtcccaatctactggtaccaatttactgtattagtccgttttcacgctgctgataaagacatacccgagactgggaagaaaaagtggtttaattggacttaaagttccacatggctggggaggcctcagaatcatggtgggaggcaaaagacacttcttacattgtggcaagaaaaaatgaggaagaagcaaaagcagaaacccctgataaactgatcagatctcatgagacttattcactgtcacgagaatagcacgggaaagactggcccccatgattcaattacctccccctgggtctgtcccacaacacgtgggaattctgggagatacaattcaagttgagatttgtggggggacacaaccaaaccatatcaGCATCCTTTCAAGAATATTAGATAATTGGAGCTGAGTACTCAGGAACTTGACTGTAGTAGAATACTGCTAGTTTCTTAATTTTAATTCACATCACCTGAAAAGTAAAACAACAGGCTTTGCCAAGTGGATGCTTTTCAGTAACAGTGAAGTGGAGTGAATACCAAATGTTTGCCCTGGTGGTTCCTATCTCTTCAGGCAAACATGGTCAGTATTCTGTAAAGTTCCcctggcctaaatgattacttgctctgggcaagtggatatttattaggctatttCAAAGCCACAGCATAAGAATGTCAGCCTAGCCACAGAGTCTGAGATTCTGAGTTCAGCCTAGCCACAGAGTCTAAGATTCTGTATCCTCTGACATTTTGGAAATGATACACTACTGGCTTAAGTGATGACTCTTTCAGATTTTCAGTATTTTATACAACTACTGCCACATCCTTATACTTTATTGCTTTTCTGTCTTCTTCAACCTGGGAGAGACCCTGAATTTGAGTGTGTTCTCTAATCAATAGTGGTTTAGCTTTCTTTTCTATTTCACTCGTTTCTAGGGTTTTTTATTTGCAGTTTAGGAACTATTAGGAATGTCAGGACTTTATCAGCAGGGGTAAAACTACCACCTGGCCTAGCCTAAGTAGGAAGTGAAAAGATAATTCACCAAACAATGATTAATCAGATAGAAGTTCTAGTCAAGAGGGATATTGTTGAAGTTACCTCTTTTAGCCTAGATACATGGATTCTTTTCAAATCAGGAAAGATTAGAAAAGGAACCCAAAAAACCCTTTAACAGTGTGAATCTTTATAGTATTTGAAAATGAGAAGAAGCAGCAGATTGTAATTTGGTTTATTGGATGTGATGGACGTTCTGTAATAGAAAACCTGAAACGATGATTGAATGGGAAAAAGAGACTACAAAATTTGTCGTAGGATGTATACAGACTTATTTTCTTTATTACAGTATTATAAGAAAACATATGTATTTGTAAAAATGGTTTCCTGTGTCAAGTATTTGTGCAGTCAGAGCTGACTTGTAAACTATTCTTGTAATAGCTCATTATTTTGAAAGATTTATATATGATGAATTCTGGATATATGACCAATAAAACTGATGAAGCAAAACCTC

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