AutismKB 2.0

Annotation Detail for SEMG2


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Basic Information Top
Gene Symbol:SEMG2 ( SGII )
Gene Full Name: semenogelin II
Band: 20q13.12
Quick LinksEntrez ID:6407; OMIM: 182141; Uniprot ID:SEMG2_HUMAN; ENSEMBL ID: ENSG00000124157; HGNC ID: 10743
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
272N-linked (GlcNAc...) (Probable).
Location(AA) Modifications Resource
272N-linked (GlcNAc...) (Probable).Swiss-Prot 53.0
Location(AA) Modification Resource
36O-linkedHMM predict
37Phosphoserine(ATM)HMM predict
141N-linkedHMM predict
143Phosphoserine(ATM)HMM predict
149Phosphoserine(CDC2)HMM predict
157Phosphoserine(IKK)HMM predict
231Phosphoserine(CK1)HMM predict
232Phosphoserine(CK1)HMM predict
236Phosphothreonine(PKC)HMM predict
274Phosphoserine(ATM)HMM predict
274Phosphoserine(CAMK2)HMM predict
293Phosphothreonine(CDK)HMM predict
413Phosphothreonine(CDK)HMM predict
473Phosphothreonine(CDK)HMM predict
485Phosphothreonine(PKC)HMM predict
490Phosphoserine(ATM)HMM predict
510Phosphothreonine(CDC2)HMM predict
510Phosphothreonine(MAPK)HMM predict
551Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003008
  • Location:chr20 43283423-43286511
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF JurkatGSE12889 43291712 43291867 155 5278
CTCF G2GSE9613 43291529 43292236 707 5371
No data
Validated miRNA targets Top
Cis-Nats regulation 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