AutismKB 2.0

Evidence Details for CDX2


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Basic Information Top
Gene Symbol:CDX2 ( CDX-3,CDX3 )
Gene Full Name: caudal type homeobox 2
Band: 13q12.2
Quick LinksEntrez ID:1045; OMIM: 600297; Uniprot ID:CDX2_HUMAN; ENSEMBL ID: ENSG00000165556; HGNC ID: 1806
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CDX2|1045|nucleotide
ATGTACGTGAGCTACCTCCTGGACAAGGACGTGAGCATGTACCCTAGCTCCGTGCGCCACTCTGGCGGCCTCAACCTGGCGCCGCAGAACTTCGTCAGCCCCCCG
CAGTACCCGGACTACGGCGGTTACCACGTGGCGGCCGCAGCTGCAGCGGCAGCGAACTTGGACAGCGCGCAGTCCCCGGGGCCATCCTGGCCGGCAGCGTATGGC
GCCCCACTCCGGGAGGACTGGAATGGCTACGCGCCCGGAGGCGCCGCGGCCGCCGCCAACGCCGTGGCTCACGGCCTCAACGGTGGCTCCCCGGCCGCAGCCATG
GGCTACAGCAGCCCCGCAGACTACCATCCGCACCACCACCCGCATCACCACCCGCACCACCCGGCCGCCGCGCCTTCCTGCGCTTCTGGGCTGCTGCAAACGCTC
AACCCCGGCCCTCCTGGGCCCGCCGCCACCGCTGCCGCCGAGCAGCTGTCTCCCGGCGGCCAGCGGCGGAACCTGTGCGAGTGGATGCGGAAGCCGGCGCAGCAG
TCCCTCGGCAGCCAAGTGAAAACCAGGACGAAAGACAAATATCGAGTGGTGTACACGGACCACCAGCGGCTGGAGCTGGAGAAGGAGTTTCACTACAGTCGCTAC
ATCACCATCCGGAGGAAAGCCGAGCTAGCCGCCACGCTGGGGCTCTCTGAGAGGCAGGTTAAAATCTGGTTTCAGAACCGCAGAGCAAAGGAGAGGAAAATCAAC
AAGAAGAAGTTGCAGCAGCAACAGCAGCAGCAGCCACCACAGCCGCCTCCGCCGCCACCACAGCCTCCCCAGCCTCAGCCAGGTCCTCTGAGAAGTGTCCCAGAG
CCCTTGAGTCCGGTGTCTTCCCTGCAAGCCTCAGTGCCTGGCTCTGTCCCTGGGGTTCTGGGGCCAACTGGGGGGGTGCTAAACCCCACCGTCACCCAGTGA


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>CDX2|1045|protein
MYVSYLLDKDVSMYPSSVRHSGGLNLAPQNFVSPPQYPDYGGYHVAAAAAAAANLDSAQSPGPSWPAAYGAPLREDWNGYAPGGAAAAANAVAHGLNGGSPAAAM
GYSSPADYHPHHHPHHHPHHPAAAPSCASGLLQTLNPGPPGPAATAAAEQLSPGGQRRNLCEWMRKPAQQSLGSQVKTRTKDKYRVVYTDHQRLELEKEFHYSRY
ITIRRKAELAATLGLSERQVKIWFQNRRAKERKINKKKLQQQQQQQPPQPPPPPPQPPQPQPGPLRSVPEPLSPVSSLQASVPGSVPGVLGPTGGVLNPTVTQ


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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) 1 (1) 0 (0) 0 (0) 1 (2) 0 (0) 0 (0) 0 (0) 12 (3)
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
Allen-Brady, 2010 USA SNP-based genomic screenASD 40 - 40 - 192 461 653
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Neale BM, 2012 175 175 173 Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Chen R, 2017 107 116 128 Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in aut
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