AutismKB 2.0

Evidence Details for KIAA1468


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Basic Information Top
Gene Symbol:KIAA1468 ( FLJ33841,HsT3308,HsT885 )
Gene Full Name: KIAA1468
Band: 18q21.33
Quick LinksEntrez ID:57614; OMIM: NA; Uniprot ID:K1468_HUMAN; ENSEMBL ID: ENSG00000134444; HGNC ID: 29289
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA1468|57614|nucleotide
ATGGCGGCGATGGCGCCTGGAGGTAGTGGCAGTGGTGGCGGCGTGAATCCATTTCTCAGTGATTCGGATGAGGACGATGACGAGGTAGCTGCAACAGAGGAACGG
CGGGCAGTACTTCGGCTGGGCGCCGGAAGTGGCCTAGATCCTGGCTCTGCGGGCTCGCTGTCGCCACAGGATCCCGTGGCCTTAGGAAGCAGTGCGCGGCCAGGG
CTCCCTGGGGAGGCGTCGGCGGCTGCAGTGGCCCTGGGGGGCACCGGGGAGACCCCGGCCCGATTATCAATTGATGCGATCGCTGCTCAGCTGTTGCGCGATCAA
TACTTGCTGACCGCCCTGGAGCTGCATACCGAGCTGTTAGAGAGTGGCCGGGAGCTGCCTCGGCTGCGCGACTACTTCTCCAATCCAGGCAACTTCGAGAGGCAA
AGTGGAACCCCGCCGGGGATGGGGGCGCCAGGGGTCCCTGGAGCAGCCGGCGTTGGGGGCGCTGGAGGTCGGGAACCGAGTACAGCGTCGGGCGGGGGACAGCTC
AATCGAGCTGGGAGCATTAGTACCCTTGATTCTTTAGACTTTGCAAGATATTCAGATGATGGTAACAGGGAAACAGATGAAAAAGTGGCAGTCCTGGAGTTTGAA
CTACGGAAAGCCAAGGAGACCATTCAGGCCCTCCGAGCCAACCTGACAAAGGCCGCAGAACATGAAGTTCCTTTACAGGAACGAAAAAATTACAAATCAAGTCCT
GAAATTCAGGAGCCAATCAAACCTCTTGAAAAGAGAGCTCTAAACTTCTTAGTCAATGAATTTTTATTGAAGAATAACTATAAGCTTACATCAATAACCTTTTCA
GATGAAAACGATGATCAGGATTTTGAATTATGGGATGATGTAGGATTAAACATTCCAAAACCTCCAGACTTATTGCAACTCTACCGGGATTTTGGAAATCATCAA
GTAACTGGAAAAGATCTTGTAGATGTGGCCAGTGGAGTAGAAGAAGATGAATTAGAGGCCCTTACACCAATTATAAGCAACCTTCCTCCAACTCTTGAAACTCCC
CAGCCTGCAGAGAACTCCATGTTAGTACAGAAATTAGAAGATAAAATTAGTTTGTTAAATAGTGAGAAATGGTCATTGATGGAGCAAATCAGAAGACTTAAAAGT
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>KIAA1468|57614|protein
MAAMAPGGSGSGGGVNPFLSDSDEDDDEVAATEERRAVLRLGAGSGLDPGSAGSLSPQDPVALGSSARPGLPGEASAAAVALGGTGETPARLSIDAIAAQLLRDQ
YLLTALELHTELLESGRELPRLRDYFSNPGNFERQSGTPPGMGAPGVPGAAGVGGAGGREPSTASGGGQLNRAGSISTLDSLDFARYSDDGNRETDEKVAVLEFE
LRKAKETIQALRANLTKAAEHEVPLQERKNYKSSPEIQEPIKPLEKRALNFLVNEFLLKNNYKLTSITFSDENDDQDFELWDDVGLNIPKPPDLLQLYRDFGNHQ
VTGKDLVDVASGVEEDELEALTPIISNLPPTLETPQPAENSMLVQKLEDKISLLNSEKWSLMEQIRRLKSEMDFLKNEHFAIPAVCDSVQPPLDQLPHKDSEDSG
QHPDVNSSDKGKNTDIHLSISDEADSTIPKENSPNSFPRREREGMPPSSLSSKKTVHFDKPNRKLSPAFHQALLSFCRMSADSRLGYEVSRIADSEKSVMLMLGR
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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 (2) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top