AutismKB 2.0

Annotation Detail for GFAP


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GFAP ( FLJ45472 )
Gene Full Name: glial fibrillary acidic protein
Band: 17q21.31
Quick LinksEntrez ID:2670; OMIM: 137780; Uniprot ID:GFAP_HUMAN; ENSEMBL ID: ENSG00000131095; HGNC ID: 4235
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
110Phosphothreonine (By similarity).
383Phosphothreonine (By similarity).
Location(AA) Modifications Resource
7Phosphothreonine (ROCK1;ROCK
8Phosphoserine (CDK1)Phospho.ELM 6.0
13Phosphoserine (ROCK1;PKC
17Phosphoserine (PKC
38Phosphoserine (ROCK1;PKC
110Phosphothreonine (By similarity).Swiss-Prot 53.0
383Phosphothreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
7Phosphothreonine(PKA)HMM predict
8Phosphoserine(PKA)HMM predict
8Phosphoserine(PKA)HMM predict
38Phosphoserine(PKA)HMM predict
68Phosphoserine(CK2)HMM predict
150Phosphothreonine(PKC)HMM predict
349Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002055
  • Location:chr17 40338518-40348393
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 40352898 40353299 401 4705
CTCF CD4SISSRdata 40352898 40353299 401 4705
CTCF G2GSE9613 40349249 40349553 304 1008
CTCF G2GSE9613 40352895 40353428 533 4768
RARG MCF7GSE15244 40356462 40356634 172 8155
TFAP2C MCF7GSE21234 40352978 40353281 303 4736
hScc1 BcellGSE12603 40352823 40353138 315 4587
hScc1 CdLSGSE12603 40352932 40353428 496 4787
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 40344036 40344259 223 0
CTCF CD4SISSRdata 40344036 40344259 223 0
CTCF G2GSE9613 40343977 40344299 322 0
Fos K562GSE19551 40338785 40339425 640 0
hScc1 BcellGSE12603 40344115 40344749 634 0
hScc1 BcellGSE12603 40347915 40348176 261 0
p130 SenescentGSE19898 40338456 40339497 1041 0
p130 shRbQuiescentGSE19898 40338738 40339612 874 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-125b hsa-mir-125b-1 11 20347935
hsa-miR-125b hsa-mir-125b-2 21 20347935
hsa-miR-125b-1* hsa-mir-125b-1 11 20347935
hsa-miR-21 hsa-mir-21 17 20130193
hsa-miR-21* hsa-mir-21 17 20130193
No data
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved