AutismKB 2.0

Annotation Detail for GGA1


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Basic Information Top
Gene Symbol:GGA1 ( - )
Gene Full Name: golgi-associated, gamma adaptin ear containing, ARF binding protein 1
Band: 22q13.1
Quick LinksEntrez ID:26088; OMIM: 606004; Uniprot ID:GGA1_HUMAN; ENSEMBL ID: ENSG00000100083; HGNC ID: 17842
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
236Phosphoserine.
355Phosphoserine; by CK2 (Probable).
362Autoinhibitory.
Location(AA) Modifications Resource
355Phosphoserine (by CK2) (Probable).Swiss-Prot 53.0
Location(AA) Modification Resource
286N-linkedHMM predict
292N-linkedHMM predict
311Phosphoserine(IKK)HMM predict
346Phosphoserine(IKK)HMM predict
355Phosphoserine(IKK)HMM predict
367Phosphoserine(ATM)HMM predict
370O-linkedHMM predict
370Phosphothreonine(CDC2)HMM predict
388Phosphoserine(CK2)HMM predict
412O-linkedHMM predict
413Phosphoserine(IKK)HMM predict
418Phosphoserine(CK2)HMM predict
439Phosphoserine(ATM)HMM predict
450Phosphothreonine(MAPK)HMM predict
454Phosphothreonine(PKC)HMM predict
460N-linkedHMM predict
463Phosphoserine(CK2)HMM predict
466O-linkedHMM predict
467Phosphoserine(CDC2)HMM predict
467Phosphoserine(IKK)HMM predict
469O-linkedHMM predict
473O-linkedHMM predict
474Phosphoserine(CK1)HMM predict
478O-linkedHMM predict
478O-linkedHMM predict
480O-linkedHMM predict
480Phosphoserine(MAPK)HMM predict
493O-linkedHMM predict
518Phosphotyrosine(Abl)HMM predict
621Phosphotyrosine(INSR)HMM predict
621Phosphotyrosine(Syk)HMM predict
637GlycineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001001560
  • Location:chr22 36334448-36359515
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 36349559 36349890 331 0
CTCF CD4SISSRdata 36349559 36349890 331 0
CTCF G2GSE9613 36349198 36349732 534 0
NFkBII GM12878GSE19485 36351559 36352678 1119 0
hScc1 BcellGSE12603 36348726 36350458 1732 0
hScc1 BcellGSE12603 36355935 36356496 561 0
hScc1 BcellGSE12603 36357358 36358046 688 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