AutismKB 2.0

Annotation Detail for SEMG1


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Basic Information Top
Gene Symbol:SEMG1 ( CT103,FLJ78262,MGC14719,SEMG,SGI,dJ172H20.2 )
Gene Full Name: semenogelin I
Band: 20q13.12
Quick LinksEntrez ID:6406; OMIM: 182140; Uniprot ID:SEMG1_HUMAN; ENSEMBL ID: ENSG00000124233; HGNC ID: 10742
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
24Pyrrolidone carboxylic acid (Probable).
Location(AA) Modifications Resource
24Pyrrolidone carboxylic acid (Probable).Swiss-Prot 53.0
Location(AA) Modification Resource
37Phosphoserine(ATM)HMM predict
57Phosphothreonine(PKC)HMM predict
62Phosphoserine(IKK)HMM predict
82Phosphoserine(ATM)HMM predict
141N-linkedHMM predict
143Phosphoserine(ATM)HMM predict
149Phosphoserine(CDC2)HMM predict
157Phosphoserine(ATM)HMM predict
160Phosphoserine(CK2)HMM predict
160Phosphoserine(IKK)HMM predict
162Phosphothreonine(PKC)HMM predict
231Phosphoserine(CK1)HMM predict
232Phosphoserine(CK1)HMM predict
293Phosphothreonine(CDK)HMM predict
310Phosphoserine(ATM)HMM predict
315Phosphotyrosine(EGFR)HMM predict
315Phosphotyrosine(SRC)HMM predict
316Phosphoserine(CK1)HMM predict
316Phosphoserine(ATM)HMM predict
316Phosphoserine(CK2)HMM predict
326Phosphoserine(ATM)HMM predict
340Phosphoserine(ATM)HMM predict
340Phosphoserine(IKK)HMM predict
353Phosphothreonine(CDK)HMM predict
370Phosphoserine(ATM)HMM predict
376Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003007
  • Location:chr20 43269087-43271821
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
GABP k562GSE8489 43258858 43259292 434 10013
No data
No data
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