AutismKB 2.0

Evidence Details for NME4


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Basic Information Top
Gene Symbol:NME4 ( NDPK-D,NM23H4,nm23-H4 )
Gene Full Name: non-metastatic cells 4, protein expressed in
Band: 16p13.3
Quick LinksEntrez ID:4833; OMIM: 601818; Uniprot ID:NDKM_HUMAN; ENSEMBL ID: ENSG00000103202; HGNC ID: 7852
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>NME4|4833|nucleotide
ATGGGCGGCCTCTTCTGGCGCTCCGCGCTGCGGGGGCTGCGCTGCGGCCCGCGGGCCCCGGGCCCGAGCCTGCTAGTGCGCCACGGCTCGGGAGGGCCCTCCTGG
ACCCGGGAGCGGACCCTGGTGGCGGTGAAGCCCGATGGCGTGCAACGGCGGCTCGTTGGGGACGTGATCCAGCGCTTTGAGAGGCGGGGCTTCACGCTGGTGGGG
ATGAAGATGCTGCAGGCACCAGAGAGCGTCCTTGCCGAGCACTACCAGGACCTGCGGAGGAAGCCCTTCTACCCTGCCCTCATCCGCTACATGAGCTCTGGGCCT
GTGGTGGCCATGGTCTGGGAAGGGTACAATGTCGTCCGCGCCTCGAGGGCCATGATTGGACACACCGACTCGGCTGAGGCTGCCCCAGGAACCATAAGGGGTGAC
TTCAGCGTCCACATCAGCAGGAATGTCATCCACGCCAGCGACTCCGTGGAGGGGGCCCAGCGGGAGATCCAGCTGTGGTTCCAGAGCAGTGAGCTGGTGAGCTGG
GCAGACGGGGGCCAGCACAGCAGCATCCACCCAGCCTGA





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>NME4|4833|protein
MGGLFWRSALRGLRCGPRAPGPSLLVRHGSGGPSWTRERTLVAVKPDGVQRRLVGDVIQRFERRGFTLVGMKMLQAPESVLAEHYQDLRRKPFYPALIRYMSSGP
VVAMVWEGYNVVRASRAMIGHTDSAEAAPGTIRGDFSVHISRNVIHASDSVEGAQREIQLWFQSSELVSWADGGQHSSIHPA



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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 (2) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Buxbaum, 2004 USA microsatellite-based genomic screenautism 115 - 115 - - - -
Lauritsen, 2006 Faroe Islands microsatellite-based genomic screenautism - - - - 12 44 56
Low Scale Association Studies (by Ethnic Group) Top
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
Gregg, 2008_1 mixed lymphoblastoid cell lines 35
(14.29%)
autismautism 12
(25.00%)
0.666 Down 0.0201
  • Platform: U133 Plus 2.0 GeneChip (Affymetrix,Santa Clara, CA, USA)
  • ProbeSet: 212739_s_at
  • RefSeq_ID/ EST: AL523860
  • GEO_ID: GSE6575
  • Statistic Method: a stringent 1.5-fold unpaired t test with Benjamini
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