AutismKB 2.0

Evidence Details for ELP3


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Basic Information Top
Gene Symbol:ELP3 ( FLJ10422,KAT9 )
Gene Full Name: elongation protein 3 homolog (S. cerevisiae)
Band: 8p21.1
Quick LinksEntrez ID:55140; OMIM: 612722; Uniprot ID:ELP3_HUMAN; ENSEMBL ID: ENSG00000134014; HGNC ID: 20696
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ELP3|55140|nucleotide
ATGAGGCAGAAGCGGAAAGGAGATCTCAGCCCTGCTGAGCTGATGATGCTGACTATAGGAGATGTTATTAAACAACTGATTGAAGCCCACGAGCAGGGGAAAGAC
ATCGATCTAAATAAGGTGAAAACCAAGACAGCTGCCAAATATGGCCTTTCTGCCCAGCCCCGCCTGGTGGATATCATTGCTGCCGTCCCTCCTCAGTATCGCAAG
GTCTTGATGCCCAAGTTAAAGGCGAAACCCATCAGAACTGCTAGTGGGATTGCTGTCGTGGCTGTGATGTGCAAACCCCACAGATGTCCACACATCAGTTTTACA
GGAAATATATGTGTATACTGCCCTGGTGGACCTGATTCTGATTTTGAGTATTCCACCCAGTCTTACACTGGCTATGAGCCAACCTCCATGAGAGCTATCCGTGCC
AGATATGACCCTTTCCTACAGACAAGACACCGAATAGAACAGTTAAAACAACTTGGTCATAGTGTGGATAAAGTGGAGTTTATTGTGATGGGTGGAACGTTTATG
GCCCTTCCAGAAGAATACAGAGATTATTTTATTCGAAATTTACATGATGCCTTATCAGGACATACTTCCAACAATATTTACGAGGCAGTCAAGTATTCTGAGAGA
AGCCTCACAAAGTGTATTGGAATTACTATTGAAACCAGACCAGATTACTGCATGAAGCGACATTTAAGTGACATGTTGACCTATGGCTGCACAAGGCTGGAGATT
GGGGTGCAGAGTGTTTATGAAGATGTGGCTAGAGACACCAACAGGGGCCACACTGTGAAGGCAGTGTGTGAGTCATTTCACCTGGCCAAAGATTCCGGTTTTAAA
GTGGTGGCCCATATGATGCCTGACCTGCCAAACGTGGGACTAGAAAGAGACATTGAACAGTTCACAGAGTTTTTTGAGAACCCTGCTTTTCGTCCCGATGGGCTG
AAACTCTATCCTACCCTGGTGATTCGTGGGACCGGGCTTTATGAGCTTTGGAAATCAGGAAGATATAAGAGTTACTCTCCTAGTGACCTGGTTGAATTGGTGGCT
CGGATCCTAGCCCTCGTGCCTCCATGGACTCGAGTGTACCGAGTACAGAGGGATATTCCAATGCCTTTAGTTAGCTCAGGAGTAGAGCATGGTAACCTGAGAGAG
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>ELP3|55140|protein
MRQKRKGDLSPAELMMLTIGDVIKQLIEAHEQGKDIDLNKVKTKTAAKYGLSAQPRLVDIIAAVPPQYRKVLMPKLKAKPIRTASGIAVVAVMCKPHRCPHISFT
GNICVYCPGGPDSDFEYSTQSYTGYEPTSMRAIRARYDPFLQTRHRIEQLKQLGHSVDKVEFIVMGGTFMALPEEYRDYFIRNLHDALSGHTSNNIYEAVKYSER
SLTKCIGITIETRPDYCMKRHLSDMLTYGCTRLEIGVQSVYEDVARDTNRGHTVKAVCESFHLAKDSGFKVVAHMMPDLPNVGLERDIEQFTEFFENPAFRPDGL
KLYPTLVIRGTGLYELWKSGRYKSYSPSDLVELVARILALVPPWTRVYRVQRDIPMPLVSSGVEHGNLRELALARMKDLGIQCRDVRTREVGIQEIHHKVRPYQV
ELVRRDYVANGGWETFLSYEDPDQDILIGLLRLRKCSEETFRFELGGGVSIVRELHVYGSVVPVSSRDPTKFQHQGFGMLLMEEAERIAREEHGSGKIAVISGVG
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (2)
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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top