AutismKB 2.0

Evidence Details for KIAA0649


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Basic Information Top
Gene Symbol:KIAA0649 ( - )
Gene Full Name: KIAA0649
Band: 9q34.3
Quick LinksEntrez ID:9858; OMIM: NA; Uniprot ID:K0649_HUMAN; ENSEMBL ID: ENSG00000196422; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>KIAA0649|9858|nucleotide
ATGTTTCTCATGAACGCTTCTCCAGTGGTTGCTCTCCAGTCCAAATGGGAGGCCTTTGGCCCGCCAGGGAGCTGTAGGTTCCCCAGGTGCTTCTCGGAGGCTGAC
GAGGGCGTGGAGAGCGCGTCGGTGAGCGCCCGGGTGCAGATGCTTATCAGCACTCTGCAGCGCGACGGGGCTGCTCGGGGCACCAGCGATGAGCGCGCCGCACAG
AGGGGCCACAGGGCAGAGGGATGCCACGACGCCAGGCCGGCTGCCAAGCCCACCGTGCACAAGGAGCCACCCGCGTTGGCTGTCTGTGGTCTCGTTGCTGACTTT
GACCCCATGGGGGAGGAGGAAACTACAGACTTTGGCCCGTTGGTGCTAGATTCAGACAGTGATGATTCCGTGGACAGGGACATTGAGGAGGCCATCCAGGAGTAC
CTGAAGGCAAAGAGTGGAGCCGCACAGCCCGGGGCCGGCGGGGCCCAGCCAGGTGCAGCCCAGCCTTCCAGGGCCGCAGGCGGAGGCAGTAGATGTAAGCCGGAA
CCGGCTCACGGCAGTGCCCCGACTGCCCTGTGTCCCCCAAAACTTGTACCTGGATCAGGTGGTGGCCCCGGCAGCCAGGTGGGATCCAGCAAGGACCAGGGCTCC
GCCTCCCCGGTCAGTGTGAGCAGCGATGACTCCTTCGAGCAGAGCATCAGGGCGGAAATAGAACAGTTTCTGAATGAGAAGAGACAGCATGAGACCCAAAAATGT
GATGGGTCAGTGGAGAAGAAACCAGACACAAATGAAAATTCCGCCAAGTCACTCTTGAAATCCCACCAAGAGCCGCCTACAAAGGTGGTGCATCGGCAGGGCCTG
CTGGGCGTCCAGAAGGAGTTTGCCTTCCGCAAACCTCCCCGGTTAGCGAAGATGAACGTCCAGCCCAGAAGCCTCAGGTCCAAGGTCACAACCACGCAGGAGAAC
GAGGGCAGCACGAAGCCGGCAACCCCCTGCCGCCCTTCAGAAGCAGCACAGAATAAAGGTGGGATCAAAAGGAGCGCCAGCGCTGCAAGGAGGGGAAAGCGAGTC
ATGAGTGCGGCACAGGCGTCCGAGGCGTCCGACTCCAGCAGCGACGATGGCATTGAGGAGGCCATCCAGCTGTACCAGCTGCAGAAAACACGCAAGGAGGCCGAC
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>KIAA0649|9858|protein
MFLMNASPVVALQSKWEAFGPPGSCRFPRCFSEADEGVESASVSARVQMLISTLQRDGAARGTSDERAAQRGHRAEGCHDARPAAKPTVHKEPPALAVCGLVADF
DPMGEEETTDFGPLVLDSDSDDSVDRDIEEAIQEYLKAKSGAAQPGAGGAQPGAAQPSRAAGGGSRCKPEPAHGSAPTALCPPKLVPGSGGGPGSQVGSSKDQGS
ASPVSVSSDDSFEQSIRAEIEQFLNEKRQHETQKCDGSVEKKPDTNENSAKSLLKSHQEPPTKVVHRQGLLGVQKEFAFRKPPRLAKMNVQPRSLRSKVTTTQEN
EGSTKPATPCRPSEAAQNKGGIKRSASAARRGKRVMSAAQASEASDSSSDDGIEEAIQLYQLQKTRKEADGDLPQRVQLREERAPDPPAHSTSSATKSALPETHR
KTPSKKKLVATKTMDPGPGGLDTDHAPKLLKETKAPPPASPASRSEFVERSSCRADTSAELMCAEAILDISKTILPAPVEGSDGSLSASPLFYSPNVPSRSDGDS
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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 (1) 1 (3) 0 (0) 2 (2) 0 (0) 0 (0) 0 (0) 0 (0) 4 (6)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Monaco, 2001 - microsatellite-based genomic screenPDD 152 - 152 - - - -
Buxbaum, 2001 USA microsatellite-based genomic screenautism, PDD, Asperger syndrome 35 - 35 - - - -
Lamb, 2005 - microsatellite-based genomic screenautism 207 - 207 - 420 - -
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 2
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Nishimura, 2007_1 America lymphoblastoid cell lines 8
(-)
autism with FMR1-FMautism 15
(-)
0.66 Down 0.00000048
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_014811
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Nishimura, 2007_2 America lymphoblastoid cell lines 7
(-)
autism with dup(15q)autism 15
(-)
0.82 Down 0.00000048
  • Platform: Whole Human Genome Array G4112A (Agilent)
  • ProbeSet: -
  • RefSeq_ID/ EST: NM_014811
  • GEO_ID: GSE7329
  • Statistic Method: ANOVA by MeV3.1, PCA by GeneSpring GX7.3(Aligent), SAM and RankProd by Bioconductor packages
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018