AutismKB 2.0

Evidence Details for KIAA0947


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Basic Information Top
Gene Symbol:KIAA0947 ( DKFZp781J2344 )
Gene Full Name: KIAA0947
Band: 5p15.32
Quick LinksEntrez ID:23379; OMIM: NA; Uniprot ID:K0947_HUMAN; ENSEMBL ID: ENSG00000164151; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA0947|23379|nucleotide
ATGATGCCGGGCGAGACCCATTCGGCGGCGCCCGGGACGGCGGCGGACCTGTCGCGATGTCAGGGCTGCGCCTCTCTGCAGCAGAATTTGAATGAATATGTTGAA
GCATTAATTACCTTGAAACAAAAAATTATCAATACAGATAATTTGTTAACAGAATATCAGAAGAAATGTGATGAGCTGCAGTTTGCAAGAAGAGAGAATAGTAAT
CTGCATCACCAAGTGGAAGAGATGCTTCAAAAAATTTCTCCTCTACAGAAATGTCAGGAAGAACTGGGATCTTTAAAAGCAGAGCTAGAAGAGAAAAAGAGTTCT
TTAAAGTTGTATCAGGATACTCATCAGGAATATGCTCGTGTAAAGGAAGAATGCTTGAAGAGTGATGCTCAGAAGAAGAAACTAGAAGCTAAGGTGAAGAAGCTG
CAAGAGGCTGCTGTCAAGCAAACTCAGGACTTCAAGCAACTGAGAAATGAAAAGAAAATACTTGAAAAGGAATTTAAGAAGACACAGGAAAGGCTTGACGAATTT
TCTAAACAGAAAAATGAAAAGGAGTTGAGACATATTGGAACACAAATTTCAAGTGATTCATATGGAAGCATAGATAAAAGAAAAGTGAAACTGCTTCTGAAGGAA
CTCTGGCTCTGTGTAAACACAACACACAGACTACCTGGTGAAGGCAGCAGGTGTGTCCCAGAAAAACCTGCCAAAGCAATCACCAGCTCCAGAGTGCCTGGGGAA
GATGGTACGCTACCTCCAACACAGGGCAGCCCTCTCAGGACCTCAAATGTGCAGACATGCCTCACAAAACTGTCCATGGAGATAAAGGAGGACTTTTTATGTCAA
AATGTGGAAAAACAGAGCTCCAGTGGAACAAATTGTAGTTCTGACCATGTTTTTAATGAGAATGGAAATCTTGAGGTTTTAGTACAAAGTCATCGTGACGGTGGT
AGTACTGAATTTGTTGATCATGATCATTTTTTTGATGAAGATCTTCAAGCTGCAATTGACTTCTTCAAACTTCCCCCTCCTCTTCTGTCACCAGTGCCCTCGCCC
CCTCCGATGTCATCACCTCACCCGGGTTCCTTACCGTCTTCATTTGCACCTGAAACCTACTTTGGAGAATACACAGATTCCAGCGATAATGACTCAGTCCAGCTT
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>KIAA0947|23379|protein
MMPGETHSAAPGTAADLSRCQGCASLQQNLNEYVEALITLKQKIINTDNLLTEYQKKCDELQFARRENSNLHHQVEEMLQKISPLQKCQEELGSLKAELEEKKSS
LKLYQDTHQEYARVKEECLKSDAQKKKLEAKVKKLQEAAVKQTQDFKQLRNEKKILEKEFKKTQERLDEFSKQKNEKELRHIGTQISSDSYGSIDKRKVKLLLKE
LWLCVNTTHRLPGEGSRCVPEKPAKAITSSRVPGEDGTLPPTQGSPLRTSNVQTCLTKLSMEIKEDFLCQNVEKQSSSGTNCSSDHVFNENGNLEVLVQSHRDGG
STEFVDHDHFFDEDLQAAIDFFKLPPPLLSPVPSPPPMSSPHPGSLPSSFAPETYFGEYTDSSDNDSVQLRNSAECVSEDDTTESQNYFGSLRKNKGSGTWEEKP
KSHEAIQALNTWEVNKVTTSGLETFTATLRESSATHSLVGEKHWTTASRSMSDRKRDILHETKTQMEVREMDKSVQTEKTIHKLTRGLCIERLSASPAQEKEAAP
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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) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (5)
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