AutismKB 2.0

Evidence Details for POLE


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Basic Information Top
Gene Symbol:POLE ( DKFZp434F222,FLJ21434,POLE1 )
Gene Full Name: polymerase (DNA directed), epsilon
Band: 12q24.33
Quick LinksEntrez ID:5426; OMIM: 174762; Uniprot ID:DPOE1_HUMAN; ENSEMBL ID: ENSG00000177084; HGNC ID: 9177
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>POLE|5426|nucleotide
ATGTCTCTGAGGAGCGGCGGGCGGCGGCGCGCGGACCCAGGCGCGGATGGCGAGGCCAGCAGGGATGATGGCGCCACTTCCTCAGTTTCGGCACTCAAGCGCCTG
GAACGGAGTCAGTGGACGGATAAGATGGATTTGCGGTTTGGTTTTGAGCGGCTGAAGGAGCCTGGTGAGAAGACAGGCTGGCTCATTAACATGCATCCTACCGAG
ATTTTAGATGAAGATAAGCGCTTAGGCAGTGCAGTGGATTACTACTTTATTCAAGATGACGGAAGCAGATTTAAGGTGGCTTTGCCCTATAAACCGTATTTCTAC
ATTGCGACCAGAAAGGGTTGTGAGCGAGAAGTTTCATCTTTTCTCTCCAAGAAGTTTCAGGGCAAAATTGCAAAAGTGGAGACTGTCCCCAAAGAGGATCTGGAC
TTGCCAAATCACTTGGTGGGTTTGAAGCGAAATTACATCAGGCTGTCCTTCCACACTGTGGAGGATCTTGTCAAAGTGAGGAAGGAGATCTCCCCTGCCGTGAAG
AAGAACAGGGAGCAGGATCACGCCAGCGACGCGTACACAGCTCTGCTTTCCAGTGTTCTGCAGAGGGGCGGTGTCATTACTGATGAAGAGGAAACCTCTAAGAAG
ATAGCTGACCAGTTGGACAACATTGTGGACATGCGCGAGTACGATGTTCCCTACCACATCCGCCTCTCCATTGACCTGAAGATCCACGTGGCTCATTGGTACAAT
GTCAGATACCGAGGAAATGCTTTTCCGGTAGAAATCACCCGCCGAGATGACCTTGTTGAACGACCTGACCCTGTGGTTTTGGCATTTGACATTGAGACGACCAAA
CTGCCCCTCAAGTTTCCTGATGCTGAGACAGACCAGATTATGATGATTTCCTACATGATCGATGGCCAGGGCTACCTCATCACCAACAGGGAGATTGTTTCAGAA
GATATTGAAGATTTTGAGTTCACCCCCAAGCCAGAATATGAAGGCCCCTTTTGTGTCTTCAATGAACCCGATGAGGCTCATCTGATCCAAAGGTGGTTTGAACAC
GTCCAGGAGACCAAACCCACCATCATGGTCACCTACAACGGGGACTTTTTTGACTGGCCATTTGTGGAGGCCCGGGCAGCAGTCCACGGTCTGAGCATGCAGCAG
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>POLE|5426|protein
MSLRSGGRRRADPGADGEASRDDGATSSVSALKRLERSQWTDKMDLRFGFERLKEPGEKTGWLINMHPTEILDEDKRLGSAVDYYFIQDDGSRFKVALPYKPYFY
IATRKGCEREVSSFLSKKFQGKIAKVETVPKEDLDLPNHLVGLKRNYIRLSFHTVEDLVKVRKEISPAVKKNREQDHASDAYTALLSSVLQRGGVITDEEETSKK
IADQLDNIVDMREYDVPYHIRLSIDLKIHVAHWYNVRYRGNAFPVEITRRDDLVERPDPVVLAFDIETTKLPLKFPDAETDQIMMISYMIDGQGYLITNREIVSE
DIEDFEFTPKPEYEGPFCVFNEPDEAHLIQRWFEHVQETKPTIMVTYNGDFFDWPFVEARAAVHGLSMQQEIGFQKDSQGEYKAPQCIHMDCLRWVKRDSYLPVG
SHNLKAAAKAKLGYDPVELDPEDMCRMATEQPQTLATYSVSDAVATYYLYMKYVHPFIFALCTIIPMEPDEVLRKGSGTLCEALLMVQAFHANIIFPNKQEQEFN
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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) 1 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 2 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top