AutismKB 2.0

Evidence Details for HOXD9


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Basic Information Top
Gene Symbol:HOXD9 ( HOX4,HOX4C,Hox-4.3,Hox-5.2 )
Gene Full Name: homeobox D9
Band: 2q31.1
Quick LinksEntrez ID:3235; OMIM: 142982; Uniprot ID:HXD9_HUMAN; ENSEMBL ID: ENSG00000128709; HGNC ID: 5140
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>HOXD9|3235|nucleotide
ATGTTGGGTGGGAGTGCGGGACGCCTCAAAATGTCTTCCAGTGGCACCCTCAGCAACTACTACGTGGACTCGCTTATAGGCCATGAGGGCGACGAGGTGTTCGCG
GCGCGCTTCGGGCCGCCGGGGCCAGGCGCGCAGGGCCGGCCTGCAGGTGTGGCTGATGGCCCGGCCGCCACCGCCGCCGAGTTCGCCTCGTGTAGTTTTGCCCCC
AGATCGGCCGTGTTCTCTGCCTCGTGGTCCGCGGTGCCCTCCCAGCCCCCGGCAGCGGCGGCGATGAGCGGCCTCTACCACCCGTACGTTCCCCCGCCGCCCCTG
GCCGCCTCTGCCTCCGAGCCCGGCCGCTACGTGCGCTCCTGGATGGAGCCGCTGCCCGGCTTCCCGGGCGGTGCGGGCGGTGGCGGTGGTGGTGGAGGCGGCGGT
CCGGGCCGCGGTCCCAGCCCTGGCCCCAGCGGCCCAGCCAACGGGCGCCACTACGGGATTAAGCCTGAAACCCGAGCGGCCCCGGCCCCCGCCACGGCCGCCTCC
ACCACCTCCTCCTCCTCCACTTCCTTATCCTCCTCCTCCAAACGGACTGAGTGCTCCGTGGCCCGGGAGTCCCAGGGGAGCAGCGGCCCCGAGTTCTCGTGCAAC
TCGTTCCTGCAGGAGAAGGCGGCAGCGGCGACGGGGGGAACCGGGCCTGGGGCAGGGATCGGGGCCGCGACTGGGACGGGCGGCTCGTCGGAGCCCTCAGCTTGC
AGCGACCACCCGATCCCAGGCTGTTCGCTGAAGGAGGAGGAGAAGCAGCATTCGCAGCCGCAGCAGCAGCAACTTGACCCAAACAACCCCGCCGCGAACTGGATC
CACGCTCGCTCCACCCGGAAAAAGCGCTGTCCCTACACCAAATACCAGACGCTTGAGCTGGAGAAAGAATTCCTCTTCAACATGTACCTCACCCGGGACCGGCGC
TACGAGGTGGCCAGGATTCTCAACCTAACAGAGAGACAGGTCAAAATCTGGTTTCAGAACCGTAGGATGAAAATGAAAAAGATGAGCAAGGAGAAATGCCCCAAA
GGAGACTGA
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>HOXD9|3235|protein
MLGGSAGRLKMSSSGTLSNYYVDSLIGHEGDEVFAARFGPPGPGAQGRPAGVADGPAATAAEFASCSFAPRSAVFSASWSAVPSQPPAAAAMSGLYHPYVPPPPL
AASASEPGRYVRSWMEPLPGFPGGAGGGGGGGGGGPGRGPSPGPSGPANGRHYGIKPETRAAPAPATAASTTSSSSTSLSSSSKRTECSVARESQGSSGPEFSCN
SFLQEKAAAATGGTGPGAGIGAATGTGGSSEPSACSDHPIPGCSLKEEEKQHSQPQQQQLDPNNPAANWIHARSTRKKRCPYTKYQTLELEKEFLFNMYLTRDRR
YEVARILNLTERQVKIWFQNRRMKMKKMSKEKCPKGD

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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 (0) 2 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (4)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
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 - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

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  (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