AutismKB 2.0

Evidence Details for PAPD5


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Basic Information Top
Gene Symbol:PAPD5 ( FLJ40270,TRF4-2 )
Gene Full Name: PAP associated domain containing 5
Band: 16q12.1
Quick LinksEntrez ID:64282; OMIM: 605540; Uniprot ID:PAPD5_HUMAN; ENSEMBL ID: ENSG00000121274; HGNC ID: 30758
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PAPD5|64282|nucleotide
ATGCGGCCTCGTCCACGCTCAGCACCGGGGAAGCCGAGGCGGAGAAGCCGCGCGCGCCTCAGAAGCTCCCGGACGCCCAGCGGCGGCGCGAGCGGCGGCGGCGGC
AGCAGCAGCAGCAGCAGCACGGCCACCGGCGGGAGCGGCAGCAGCACCGGCAGCCCCGGCGGCGCGGCCTCGGCCCCGGCCCCGGCCCCGGCCGGCATGTATCGC
TCCGGGGAGCGCCTGCTGGGCAGCCACGCGCTGCCCGCGGAGCAGCGGGACTTCCTGCCCCTAGAGACGACCAACAACAACAACAACCACCACCAGCCCGGGGCC
TGGGCCCGCCGGGCGGGCTCCTCGGCGTCCTCGCCTCCCTCGGCGTCCTCGTCCCCGCACCCTTCGGCCGCCGTCCCCGCCGCCGATCCAGCCGATTCGGCCTCG
GGCAGCAGCAACAAGAGGAAGCGCGACAACAAGGCCAGCACGTATGGACTCAACTACAGCCTGCTGCAGCCCAGCGGAGGGCGGGCCGCGGGGGGCGGCCGAGCA
GACGGCGGCGGGGTCGTGTACAGCGGGACCCCGTGGAAACGGAGGAACTACAACCAGGGAGTCGTGGGTCTGCATGAAGAAATCAGTGATTTTTATGAATACATG
TCTCCAAGACCTGAGGAGGAGAAGATGCGGATGGAGGTGGTGAACAGGATCGAGAGTGTAATTAAGGAGCTCTGGCCCAGCGCTGACGTCCAGATATTTGGAAGT
TTTAAAACTGGACTTTATTTACCTACTAGTGACATCGACCTAGTGGTGTTTGGGAAGTGGGAGAACCTACCCCTCTGGACTCTGGAAGAAGCTCTTCGGAAACAC
AAAGTCGCAGATGAGGATTCGGTGAAAGTTTTAGACAAAGCAACTGTACCTATTATTAAATTAACAGATTCTTTTACTGAAGTGAAAGTTGATATCAGCTTTAAT
GTACAGAATGGCGTGAGAGCAGCTGACCTCATCAAAGATTTTACCAAGAAATATCCTGTATTGCCATACTTGGTTTTAGTATTGAAACAATTCCTATTGCAGAGG
GACCTTAATGAAGTATTTACAGGTGGAATTGGTTCTTATAGTCTCTTTTTAATGGCAGTCAGTTTCCTTCAGTTACATCCCAGGGAAGATGCTTGCATCCCCAAT
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>PAPD5|64282|protein
MRPRPRSAPGKPRRRSRARLRSSRTPSGGASGGGGSSSSSSTATGGSGSSTGSPGGAASAPAPAPAGMYRSGERLLGSHALPAEQRDFLPLETTNNNNNHHQPGA
WARRAGSSASSPPSASSSPHPSAAVPAADPADSASGSSNKRKRDNKASTYGLNYSLLQPSGGRAAGGGRADGGGVVYSGTPWKRRNYNQGVVGLHEEISDFYEYM
SPRPEEEKMRMEVVNRIESVIKELWPSADVQIFGSFKTGLYLPTSDIDLVVFGKWENLPLWTLEEALRKHKVADEDSVKVLDKATVPIIKLTDSFTEVKVDISFN
VQNGVRAADLIKDFTKKYPVLPYLVLVLKQFLLQRDLNEVFTGGIGSYSLFLMAVSFLQLHPREDACIPNTNYGVLLIEFFELYGRHFNYLKTGIRIKDGGSYVA
KDEVQKNMLDGYRPSMLYIEDPLQPGNDVGRSSYGAMQVKQAFDYAYVVLSHAVSPIAKYYPNNETESILGRIIRVTDEVATYRDWISKQWGLKNRPEPSCNGNG
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top