AutismKB 2.0

Annotation Detail for SV2A


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Basic Information Top
Gene Symbol:SV2A ( KIAA0736,SV2 )
Gene Full Name: synaptic vesicle glycoprotein 2A
Band: 1q21.2
Quick LinksEntrez ID:9900; OMIM: 185860; Uniprot ID:SV2A_HUMAN; ENSEMBL ID: ENSG00000159164; HGNC ID: 20566
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
65Phosphotyrosine (By similarity).
66Phosphotyrosine (By similarity).
80Phosphoserine.
81Phosphoserine.
84Phosphothreonine.
127Phosphoserine.
480Phosphotyrosine (By similarity).
498N-linked (GlcNAc...) (Potential).
548N-linked (GlcNAc...) (Potential).
573N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
127Phosphoserine.Swiss-Prot 53.0
127PhosphoserinePhospho.ELM 6.0
498N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
548N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
573N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
94SulfotyrosineHMM predict
94Phosphotyrosine(Syk)HMM predict
94Phosphotyrosine(INSR)HMM predict
106Phosphoserine(PKG)HMM predict
109O-linkedHMM predict
136MethylarginineHMM predict
353Phosphothreonine(PKC)HMM predict
393Phosphoserine(CK1)HMM predict
426Phosphoserine(CK1)HMM predict
443Phosphotyrosine(EGFR)HMM predict
447Phosphothreonine(PKA)HMM predict
498N-linkedHMM predict
503N-linkedHMM predict
548N-linkedHMM predict
553N-linkedHMM predict
573N-linkedHMM predict
579N-linkedHMM predict
595Phosphotyrosine(SRC)HMM predict
635Phosphoserine(IKK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014849
  • Location:chr1 148141863-148156053
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 148155996 148156220 224 55
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 148148590 148148732 142 0
CTCF G2GSE9613 148155198 148155514 316 0
hScc1 BcellGSE12603 148155126 148155471 345 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (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