AutismKB 2.0

Annotation Detail for GBF1


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Basic Information Top
Gene Symbol:GBF1 ( ARF1GEF,FLJ21263,FLJ21500,KIAA0248,MGC134877,MGC134878 )
Gene Full Name: golgi brefeldin A resistant guanine nucleotide exchange factor 1
Band: 10q24.32
Quick LinksEntrez ID:8729; OMIM: 603698; Uniprot ID:GBF1_HUMAN; ENSEMBL ID: ENSG00000107862; HGNC ID: 4181
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
507Phosphothreonine.
599Phosphoserine.
662Phosphoserine.
1298Phosphoserine.
1316Phosphotyrosine.
1318Phosphoserine.
1335Phosphoserine.
1475Phosphoserine.
1773Phosphoserine.
1781Phosphoserine.
1784Phosphoserine.
1788Phosphoserine.
1789Phosphoserine.
Location(AA) Modifications Resource
1300PhosphoserinePhospho.ELM 6.0
1318PhosphoserinePhospho.ELM 6.0
1773Phosphoserine.Swiss-Prot 53.0
1773PhosphoserinePhospho.ELM 6.0
1784Phosphoserine.Swiss-Prot 53.0
1784PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
30Phosphothreonine(CDK)HMM predict
30Phosphothreonine(CDC2)HMM predict
154N-linkedHMM predict
206Phosphotyrosine(INSR)HMM predict
233Phosphoserine(CDK)HMM predict
233Phosphoserine(CDC2)HMM predict
241Phosphothreonine(PKA)HMM predict
244Phosphothreonine(MAPK)HMM predict
251Phosphothreonine(CDC2)HMM predict
253N-linkedHMM predict
256O-linkedHMM predict
260N-linkedHMM predict
275O-linkedHMM predict
283O-linkedHMM predict
301Phosphothreonine(CK2)HMM predict
314Phosphoserine(ATM)HMM predict
314Phosphoserine(CDC2)HMM predict
317Phosphotyrosine(INSR)HMM predict
318O-linkedHMM predict
319O-linkedHMM predict
325O-linkedHMM predict
326O-linkedHMM predict
345Phosphoserine(IKK)HMM predict
345Phosphoserine(ATM)HMM predict
349Phosphoserine(ATM)HMM predict
349Phosphoserine(CK2)HMM predict
352Phosphoserine(CK1)HMM predict
367O-linkedHMM predict
371Phosphoserine(IKK)HMM predict
377Phosphotyrosine(Jak)HMM predict
377Phosphotyrosine(INSR)HMM predict
546Phosphotyrosine(Jak)HMM predict
577Phosphoserine(CAMK2)HMM predict
608Phosphothreonine(PKC)HMM predict
813N-linkedHMM predict
815Phosphoserine(CDC2)HMM predict
819N-linkedHMM predict
876Phosphotyrosine(Jak)HMM predict
988Phosphoserine(CK2)HMM predict
991Phosphoserine(CK1)HMM predict
1067Phosphothreonine(MAPK)HMM predict
1092Phosphoserine(PKC)HMM predict
1092O-linkedHMM predict
1142Phosphothreonine(MAPK)HMM predict
1148Phosphotyrosine(SRC)HMM predict
1148SulfotyrosineHMM predict
1148Phosphotyrosine(Syk)HMM predict
1148Phosphotyrosine(INSR)HMM predict
1300Phosphoserine(IKK)HMM predict
1323Phosphotyrosine(Syk)HMM predict
1362O-linkedHMM predict
1367Phosphoserine(CDC2)HMM predict
1367O-linkedHMM predict
1442Phosphotyrosine(INSR)HMM predict
1465O-linkedHMM predict
1466Phosphoserine(IKK)HMM predict
1466Phosphoserine(PKB)HMM predict
1475Phosphoserine(CK2)HMM predict
1475PhosphoserineHMM predict
1553S-palmitoylHMM predict
1554S-palmitoylHMM predict
1603N-linkedHMM predict
1620Phosphoserine(PKG)HMM predict
1750Phosphothreonine(CDC2)HMM predict
1750Phosphothreonine(MAPK)HMM predict
1773Phosphoserine(CDC2)HMM predict
1778Phosphoserine(PKG)HMM predict
1778Phosphoserine(IKK)HMM predict
1779O-linkedHMM predict
1780Phosphoserine(CK1)HMM predict
1780O-linkedHMM predict
1781Phosphoserine(IKK)HMM predict
1781Phosphoserine(CDC2)HMM predict
1781Phosphoserine(ATM)HMM predict
1784Phosphoserine(CDC2)HMM predict
1784Phosphoserine(IKK)HMM predict
1784O-linkedHMM predict
1784PhosphoserineHMM predict
1789Phosphoserine(CDC2)HMM predict
1789Phosphoserine(CDK)HMM predict
1789PhosphoserineHMM predict
1791O-linkedHMM predict
1794Phosphoserine(CDC2)HMM predict
1794O-linkedHMM predict
1794Phosphoserine(MAPK)HMM predict
1796O-linkedHMM predict
1815Phosphoserine(MAPK)HMM predict
1846Phosphothreonine(MAPK)HMM predict
1846O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004193
  • Location:chr10 103995298-104132638
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 103994872 103995052 180 337
CTCF CD4SISSRdata 103994872 103995052 180 337
Fos K562GSE19551 103994888 103995625 737 42
PHF8 293TGSE20725 103994625 103995878 1253 47
PHF8 HeLaGSE20725 103994604 103995880 1276 57
PHF8 Hs68minusFBSGSE20725 103994827 103995763 936 4
RARG MCF7GSE15244 103994426 103995963 1537 104
TAF k562GSE8489 103994966 103995282 316 175
p130 SenescentGSE19898 103994746 103995710 964 71
p130 shRbQuiescentGSE19898 103994612 103995610 998 188
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 104133924 104134061 137 1354
CTCF CD4SISSRdata 104133924 104134061 137 1354
NFkBII GM10847GSE19485 104134007 104135253 1246 1992
NFkBII GM12878GSE19485 104133908 104135299 1391 1965
TFAP2C MCF7GSE21234 104134815 104135219 404 2379
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 104101837 104102301 464 0
CTCF CD4SISSRdata 104101837 104102301 464 0
ER Breast-CancerGSE22609 104092714 104093244 530 0
H3K4me2 HCT116GSE10453 103995674 103997023 1349 0
H3K4me3 colorectalcancer 103995561 103997311 1750 0
H3ac HepG2E 103993930 103997958 4028 0
Myc K562GSE19551 104030379 104030684 305 0
NRSF JurkatGSE13047 104111023 104111816 793 0
NRSF JurkatGSE13047 104112059 104112790 731 0
NRSF mAbJurkat 104106548 104106926 378 0
NRSF mAbJurkat 104107265 104109464 2199 0
NRSF mAbJurkat 104109826 104110402 576 0
NRSF mAbJurkat 104110756 104111748 992 0
NRSF mAbJurkat 104112106 104113935 1829 0
NRSF mAbJurkat 104114630 104115337 707 0
NRSF mAbJurkat 104115712 104116293 581 0
NRSF mAbJurkat 104116649 104117445 796 0
NRSF-mono JurkatQuESTdata 104110145 104110379 234 0
NRSF-mono JurkatQuESTdata 104110875 104111809 934 0
NRSF-poly JurkatQuESTdata 104110686 104111845 1159 0
Nanog ESGSE20650 104092147 104092756 609 0
Nanog hESGSE18292 104092285 104092678 393 0
Oct4 hESGSE17917 104092107 104092575 468 0
Oct4 hESGSE21916 104092042 104092599 557 0
P300 T30-glioblastomaGSE21026 103994574 103996044 1470 0
P300 T30-glioblastomaGSE21026 104049892 104050625 733 0
RARA MCF7GSE15244 104117230 104118513 1283 0
RARG MCF7GSE15244 104117852 104118442 590 0
RARG MCF7GSE15244 104118886 104119252 366 0
Sox2 hESGSE18292 104092291 104092565 274 0
TAF k562GSE8489 103995705 103996513 808 0
TFAP2C MCF7GSE21234 104117882 104118423 541 0
hScc1 BcellGSE12603 104096930 104097335 405 0
hScc1 BcellGSE12603 104101649 104102435 786 0
hScc1 BcellGSE12603 104131922 104132175 253 0
hScc1 CdLSGSE12603 104096860 104097370 510 0
hScc1 CdLSGSE12603 104101613 104102307 694 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


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