AutismKB 2.0

Evidence Details for DLGAP2


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Basic Information Top
Gene Symbol:DLGAP2 ( DAP2,SAPAP2 )
Gene Full Name: discs, large (Drosophila) homolog-associated protein 2
Band: 8p23.3
Quick LinksEntrez ID:9228; OMIM: 605438; Uniprot ID:DLGP2_HUMAN; ENSEMBL ID: ENSG00000198010; HGNC ID: 2906
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>DLGAP2|9228|nucleotide
ATGAAGGGCCTTTCCGGAAGTCGGACCCAGCCGCCGCTGTGTTCCGGGCACACGTGTGGTCTGGCGCCCCCGGAGGACTGCGAGCACCTGCACCACGGGCCCGAC
GCGCGGCCGCCCTACCTGCTGAGCCCCGCCGACAGCTGCCCCGGGGGGCGCCACCGCTGCTCGCCGCGCAGCTCGGTGCACTCGGAGTGCGTGATGATGCCGGTG
GTGCTGGGCGACCACGTGTCCAGCAGCACCTTCCCGCGGATGCACTACAGCTCGCACTACGACACGCGCGACGACTGCGCTGTGGCCCACGCGGGCGCCAAGATC
AACCGCATCCCGGCCAACCTGCTGGACCAGTTCGAGAAGCAGCTGCCGCTGCACCGGGACGGCTTCCACACGCTGCAGTACCAGAGGACGTCCGCGGCCGCCGAG
CAGCGCAGCGAGAGCCCCGGGCGGATCCGCCACCTGGTACACTCCGTGCAGAAGCTCTTCACCAAGTCGCACTCGCTGGAGGGCTCCTCCAAAAGCAACGCCAAC
GGCACCAAGGCGGACGGCCGGGCGGACGACCACCACCACGCCCACCACGCCAAGCACAGCAAGAGGAGCAAGAGCAAGGAGCGCAAGCCGGAGGGCAAGCCCCGG
CCCGGCATGAGCAGCTGGTGGAGCTCGGACGACAACCTGGACAGCGACAGCACCTATCGGACGCCCAGCGTGCTCAACCGGCACCACCTGGGCCCCGTGGCCCAC
TGCTACCCCGACGCGCTGCAGAGCCCCTTCGGGGACCTGTCCCTCAAGACCTCCAAGAGCAACAACGACGTCAAGTGCTCGGCCTGTGAGGGGTTGGCGCTGACG
CCCGACGCCAAGTACCTGAAGCGCAGCTCCTGGTCTACGCTGACGGTCAGCCAGGCCAAGGAGGCCTACCGCAAGAGCTCGCTGAACCTGGACAAGCCGCTGCTG
CACCAGGACGCCAAGCCCGCCCTGAGGCCGTGCCACTACCTCCAGGTACCTCAGGATGAGTGGGGAGGGTACCCCACCGGTGGCAAAGATGAGGAGATTCCCTGC
AGGAGAATGAGAAGTGGGAGTTACATTAAAGCCATGGGGGACGAGGAGAGCGGAGAGTCAGACTCCAGCCCCAAGACATCACCAAAGTCGGCAATCCTACCAGAG
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>DLGAP2|9228|protein
MKGLSGSRTQPPLCSGHTCGLAPPEDCEHLHHGPDARPPYLLSPADSCPGGRHRCSPRSSVHSECVMMPVVLGDHVSSSTFPRMHYSSHYDTRDDCAVAHAGAKI
NRIPANLLDQFEKQLPLHRDGFHTLQYQRTSAAAEQRSESPGRIRHLVHSVQKLFTKSHSLEGSSKSNANGTKADGRADDHHHAHHAKHSKRSKSKERKPEGKPR
PGMSSWWSSDDNLDSDSTYRTPSVLNRHHLGPVAHCYPDALQSPFGDLSLKTSKSNNDVKCSACEGLALTPDAKYLKRSSWSTLTVSQAKEAYRKSSLNLDKPLL
HQDAKPALRPCHYLQVPQDEWGGYPTGGKDEEIPCRRMRSGSYIKAMGDEESGESDSSPKTSPKSAILPEPLLKSIGQRPLGEHQTQTYLQAASDVPVGHSLDPA
ANYNSPKFRSRNQSYMRAVSTLSQASCVSQVSEAEINGQFESVCESVFSEVESQAMDALDLPGCFRTRSHSYLRAIQAGYSQDDECIPMMTPSDITSTIRSTAAV
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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 (1) 2 (8) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 4 (11)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
CAUCASIAN
Hussman, 2011_1 Discovery Illumina Infinium Human 1 M beadship 597 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Yu, 2002 USA STS mappingPDD 105 - 105 - - 668 668
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Alvarez-Mora MI, 2016 - MicroarrayASD - - - - 44 - -
Linkage Studies Top
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
De Rubeis S, 2014 2270 - 1702 Synaptic, transcriptional and chromatin genes disrupted in autism
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Reference Source Platform ADI-R ADOS Diagnosis Family Affected Validation Method
Total Simplex Multiplex
Cukier HN, 2014 - Illumina HiSeq 2000ASD 40 - - 100 HumanExome BeadChip or Sanger sequencing
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