AutismKB 2.0

Evidence Details for SDC4


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Basic Information Top
Gene Symbol:SDC4 ( MGC22217,SYND4 )
Gene Full Name: syndecan 4
Band: 20q13.12
Quick LinksEntrez ID:6385; OMIM: 600017; Uniprot ID:SDC4_HUMAN; ENSEMBL ID: ENSG00000124145; HGNC ID: 10661
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>SDC4|6385|nucleotide
ATGGCCCCCGCCCGTCTGTTCGCGCTGCTGCTGTTCTTCGTAGGCGGAGTCGCCGAGTCGATCCGAGAGACTGAGGTCATCGACCCCCAGGACCTCCTAGAAGGC
CGATACTTCTCCGGAGCCCTACCAGACGATGAGGATGTAGTGGGGCCCGGGCAGGAATCTGATGACTTTGAGCTGTCTGGCTCTGGAGATCTGGATGACTTGGAA
GACTCCATGATCGGCCCTGAAGTTGTCCATCCCTTGGTGCCTCTAGATAACCATATCCCTGAGAGGGCAGGGTCTGGGAGCCAAGTCCCCACCGAACCCAAGAAA
CTAGAGGAGAATGAGGTTATCCCCAAGAGAATCTCACCCGTTGAAGAGAGTGAGGATGTGTCCAACAAGGTGTCAATGTCCAGCACTGTGCAGGGCAGCAACATC
TTTGAGAGAACGGAGGTCCTGGCAGCTCTGATTGTGGGTGGCATCGTGGGCATCCTCTTTGCCGTCTTCCTGATCCTACTGCTCATGTACCGTATGAAGAAGAAG
GATGAAGGCAGCTATGACCTGGGCAAGAAACCCATCTACAAGAAAGCCCCCACCAATGAGTTCTACGCGTGA





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>SDC4|6385|protein
MAPARLFALLLFFVGGVAESIRETEVIDPQDLLEGRYFSGALPDDEDVVGPGQESDDFELSGSGDLDDLEDSMIGPEVVHPLVPLDNHIPERAGSGSQVPTEPKK
LEENEVIPKRISPVEESEDVSNKVSMSSTVQGSNIFERTEVLAALIVGGIVGILFAVFLILLLMYRMKKKDEGSYDLGKKPIYKKAPTNEFYA



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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 3 (2)
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, 2008 - SNP-based genomic screenASD 1 - 1 - 7 22 29
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
Hu, 2009_1 mixed lymphoblastoid cell lines 21
(-)
autism with nonaffected sib pairsautism 17
(-)
1.83 Up -
  • Platform: a custom printed microarray containing 39,936 human PCR amplicon probes derived from cDNA clones purchased from Research Genetics (Invitrogen )
  • ProbeSet: -
  • RefSeq_ID/ EST: AA148736
  • GEO_ID: GSE15451
  • Statistic Method: one-class SAM by MeV
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