AutismKB 2.0

Evidence Details for KIAA2018


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Basic Information Top
Gene Symbol:KIAA2018 ( DKFZp781O0144 )
Gene Full Name: KIAA2018
Band: 3q13.2
Quick LinksEntrez ID:205717; OMIM: NA; Uniprot ID:K2018_HUMAN; ENSEMBL ID: ENSG00000176542; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA2018|205717|nucleotide
ATGCCAGAAATGACAGAGAATGAGACGCCTACAAAAAAGCAGCACAGAAAGAAAAACCGGGAGACACACAATGCAGTGGAGAGGCATAGAAAGAAGAAAATTAAT
GCTGGGATAAACAGAATAGGAGAGCTGATCCCATGTTCTCCTGCCCTGAAGCAGAGCAAGAATATGATCCTGGACCAAGCCTTTAAATATATAACAGAATTGAAA
AGGCAAAATGATGAACTCCTGCTTAATGGAGGAAACAATGAACAAGCTGAAGAAATAAAAAAGCTACGGAAACAACTGGAAGAAATCCAAAAAGAAAATGGCCGA
TATATTGAATTACTGAAAGCTAATGACATATGCTTATATGATGACCCGACAATTCACTGGAAAGGAAATCTTAAAAACTCAAAGGTCTCTGTTGTTATTCCTAGT
GACCAGGTTCAAAAAAAAATTATTGTTTATTCCAACGGGAATCAGCCTGGTGGAAACAGCCAGGGAACAGCTGTTCAGGGGATAACTTTTAATGTTAGTCATAAT
TTACAAAAGCAGACCGCCAATGTGGTGCCAGTACAGAGGACTTGCAATCTTGTGACTCCTGTATCTATTTCTGGAGTTTACCCTTCTGAAAACAAGCCATGGCAT
CAGACCACAGTTCCTGCATTGGCTACCAACCAGCCTGTTCCTCTTTGTCTTCCTGCTGCCATTTCTGCTCAGAGTATTCTCGAGCTTCCCACCTCTGAAAGCGAA
TCAAATGTGCTTGGTGCCACTAGTGGCTCACTGATTGCTGTTTCAATTGAATCTGAGCCTCACCAACATCATTCTTTGCACACATGCCTAAATGATCAAAATTCT
TCTGAAAATAAGAATGGACAAGAGAACCCCAAAGTATTGAAGAAAATGACCCCTTGTGTTACAAACATCCCCCACAGCTCCTCAGCAACTGCCACTAAAGTGCAC
CATGGAAACAAGTCCTGCCTGAGCATACAGGACTTCAGAGGTGATTTTCAAAACACTTTTGTTGTTTCAGTTACCACCACAGTCTGCTCGCAGCCTCCCAGAACT
GCAGGTGATTCTTCTCCAATGAGCATTAGTAAGAGTGCAGACTTGACAAGTACAGCTACAGTGGTGGCATCATCTGCCCCTGGAGTAGGGAAGGCCACCATTCCT
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>KIAA2018|205717|protein
MPEMTENETPTKKQHRKKNRETHNAVERHRKKKINAGINRIGELIPCSPALKQSKNMILDQAFKYITELKRQNDELLLNGGNNEQAEEIKKLRKQLEEIQKENGR
YIELLKANDICLYDDPTIHWKGNLKNSKVSVVIPSDQVQKKIIVYSNGNQPGGNSQGTAVQGITFNVSHNLQKQTANVVPVQRTCNLVTPVSISGVYPSENKPWH
QTTVPALATNQPVPLCLPAAISAQSILELPTSESESNVLGATSGSLIAVSIESEPHQHHSLHTCLNDQNSSENKNGQENPKVLKKMTPCVTNIPHSSSATATKVH
HGNKSCLSIQDFRGDFQNTFVVSVTTTVCSQPPRTAGDSSPMSISKSADLTSTATVVASSAPGVGKATIPISTLSGNPLDNGWTLSCSLPSSSVSTSDLKNINSL
TRISSAGNTQTTWTTLQLAGNTIQPLSQTPSSAVTPVLNESGTSPTTSNHSRYVATDINLNNSFPADGQPVEQVVVTLPSCPSLPMQPLIAQPQVKSQPPKNILP
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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 (1) 1 (1) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 4 (3)
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
Fan Y, 2016 China CMA--autism - - - - 3 - 3
Linkage Studies Top