AutismKB 2.0

Evidence Details for NEUROD6


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Basic Information Top
Gene Symbol:NEUROD6 ( Atoh2,MATH2,Math-2,NEX1M,bHLHa2 )
Gene Full Name: neurogenic differentiation 6
Band: 7p14.3
Quick LinksEntrez ID:63974; OMIM: 611513; Uniprot ID:NDF6_HUMAN; ENSEMBL ID: ENSG00000164600; HGNC ID: 13804
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NEUROD6|63974|nucleotide
ATGTTAACACTACCGTTTGATGAGTCTGTTGTAATGCCAGAATCCCAGATGTGCAGAAAGTTTTCTAGAGAATGCGAGGACCAGAAGCAAATTAAGAAGCCAGAA
AGCTTTTCCAAACAGATTGTCCTTCGAGGAAAGAGCATCAAAAGGGCCCCTGGAGAAGAAACCGAGAAAGAAGAAGAGGAGGAAGACAGGGAAGAGGAAGATGAA
AATGGGTTGCCTAGAAGGAGGGGTCTTAGGAAAAAAAAGACAACAAAGCTGCGATTGGAAAGGGTCAAGTTCAGGAGACAGGAAGCGAACGCGCGCGAGAGGAAC
AGGATGCACGGCCTCAACGACGCTCTGGACAACTTAAGAAAAGTGGTCCCCTGTTATTCTAAAACCCAGAAACTGTCCAAAATAGAGACTTTACGACTGGCCAAA
AACTACATCTGGGCACTTTCTGAAATTCTGAGAATCGGCAAGAGACCAGATCTGCTCACATTCGTCCAAAACTTATGCAAAGGTCTTTCCCAGCCAACTACAAAC
TTGGTGGCAGGCTGCTTGCAGCTCAACGCCAGGAGTTTCCTGATGGGTCAGGGTGGGGAGGCTGCACACCACACAAGGTCACCCTACTCTACCTTCTACCCACCC
TACCACAGCCCTGAGCTCACCACTCCCCCAGGGCATGGGACTCTTGATAATTCCAAGTCCATGAAACCCTACAATTATTGCAGTGCGTATGAATCCTTCTATGAA
AGTACTTCCCCTGAGTGTGCCAGCCCTCAGTTTGAAGGTCCCTTAAGTCCTCCCCCAATTAACTATAATGGGATATTTTCCCTGAAGCAAGAAGAAACCTTGGAC
TATGGTAAAAATTACAATTACGGCATGCATTACTGTGCAGTGCCACCCAGGGGTCCCCTTGGGCAGGGTGCCATGTTCAGGTTGCCCACCGACAGCCACTTCCCT
TACGACTTACATCTGCGCAGCCAATCTCTCACAATGCAAGATGAATTAAATGCAGTTTTTCATAATTAA

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>NEUROD6|63974|protein
MLTLPFDESVVMPESQMCRKFSRECEDQKQIKKPESFSKQIVLRGKSIKRAPGEETEKEEEEEDREEEDENGLPRRRGLRKKKTTKLRLERVKFRRQEANARERN
RMHGLNDALDNLRKVVPCYSKTQKLSKIETLRLAKNYIWALSEILRIGKRPDLLTFVQNLCKGLSQPTTNLVAGCLQLNARSFLMGQGGEAAHHTRSPYSTFYPP
YHSPELTTPPGHGTLDNSKSMKPYNYCSAYESFYESTSPECASPQFEGPLSPPPINYNGIFSLKQEETLDYGKNYNYGMHYCAVPPRGPLGQGAMFRLPTDSHFP
YDLHLRSQSLTMQDELNAVFHN

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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) 0 (0) 0 (1) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
CAUCASIAN
Vilella, 2010_1 Spain -autism -
-
- 490
(-)
-
-
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.673945 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1722559
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
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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  (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