AutismKB 2.0

Annotation Detail for RABGEF1


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Basic Information Top
Gene Symbol:RABGEF1 ( FLJ32302,RABEX5,rabex-5 )
Gene Full Name: RAB guanine nucleotide exchange factor (GEF) 1
Band: 7q11.21
Quick LinksEntrez ID:27342; OMIM: 609700; Uniprot ID:RABX5_HUMAN; ENSEMBL ID: ENSG00000154710,ENSG00000243335; HGNC ID: 17676
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
302Phosphoserine.
310Phosphoserine.
329N6-acetyllysine.
348N6-acetyllysine.
617Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
21Phosphoserine(ATM)HMM predict
21Phosphoserine(CK2)HMM predict
32Phosphothreonine(MAPK)HMM predict
98O-linkedHMM predict
98O-linkedHMM predict
202S-palmitoylHMM predict
203S-palmitoylHMM predict
250Phosphoserine(ATM)HMM predict
253Phosphoserine(IKK)HMM predict
277Phosphothreonine(PKA)HMM predict
277Phosphothreonine(PKC)HMM predict
291Phosphoserine(CK1)HMM predict
302Phosphoserine(CDC2)HMM predict
335Phosphotyrosine(Syk)HMM predict
352Phosphoserine(IKK)HMM predict
352Phosphoserine(CK1)HMM predict
352Phosphoserine(PKG)HMM predict
364Phosphotyrosine(Syk)HMM predict
373Phosphothreonine(PKC)HMM predict
399O-linkedHMM predict
401Phosphoserine(IKK)HMM predict
403Phosphoserine(IKK)HMM predict
403O-linkedHMM predict
446Phosphothreonine(CK2)HMM predict
566Phosphothreonine(PKC)HMM predict
592N-linkedHMM predict
594Phosphoserine(ATM)HMM predict
601Phosphotyrosine(INSR)HMM predict
601SulfotyrosineHMM predict
607PhosphoserineHMM predict
607Phosphoserine(CDK)HMM predict
607Phosphoserine(CDC2)HMM predict
617Phosphoserine(IKK)HMM predict
706TyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014504
  • Location:chr7 65843154-65913880
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 65828438 65828767 329 14552
CTCF G2GSE9613 65829722 65830082 360 13253
CTCF G2GSE9613 65833279 65833814 535 9608
CTCF G2GSE9613 65842660 65843629 969 10
ER MCF7GSE19013 65839317 65839677 360 3658
ETS1 JurkatGSE17954 65842336 65843575 1239 199
KLF4 hESGSE17917 65842854 65843226 372 115
Oct1 HelaGSE14283 65833433 65833469 36 9704
Oct1 HelaGSE14283 65835863 65835896 33 7275
PHF8 293TGSE20725 65842385 65843911 1526 7
Rb SenescentGSE19898 65842873 65843284 411 76
Rb shRbSenescenceGSE19898 65831114 65831367 253 11914
TAF HelaGSE8489 65842660 65842830 170 410
p130 QuiescentGSE19898 65842948 65843180 232 91
p130 SenescentGSE19898 65842787 65843201 414 161
p130 shRbSenescentGSE19898 65842800 65843382 582 64
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 65925432 65925774 342 11723
CTCF G2GSE9613 65927755 65928542 787 14268
ER E2-MCF7GSE14664 65927880 65927929 49 14024
hScc1 BcellGSE12603 65927906 65928259 353 14202
hScc1 CdLSGSE12603 65927755 65928334 579 14164
hScc1 G2GSE9613 65927755 65928542 787 14268
p63 keratinocytesGSE17611 65930447 65931268 821 16977
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 65875370 65875874 504 0
ER E2-MCF7GSE14664 65911928 65911962 34 0
ER Fulvestrant-MCF7GSE14664 65874619 65874654 35 0
ER Fulvestrant-MCF7GSE14664 65888356 65888388 32 0
ER MCF7GSE19013 65851123 65851854 731 0
FOXA1 MCF7GSE15244 65875370 65875874 504 0
H3K4me3 colorectalcancer 65843808 65844066 258 0
H3K4me3 colorectalcancer 65844586 65845020 434 0
H3ac HepG2E 65843654 65844066 412 0
H3ac HepG2E 65844586 65845020 434 0
Oct1 H2O2-HelaGSE14283 65874625 65874692 67 0
Oct1 HelaGSE14283 65874610 65874659 49 0
Oct1 HelaGSE14283 65876945 65876971 26 0
Oct1 HelaGSE14283 65888350 65888390 40 0
Oct1 HelaGSE14283 65894044 65894078 34 0
Oct1 HelaGSE14283 65900887 65900929 42 0
PHF8 HeLaGSE20725 65842457 65844049 1592 0
Pol2 GM12878GSE19551 65842653 65843796 1143 0
TAF HelaGSE8489 65844586 65845020 434 0
USF2 HepG2E 65885258 65885846 588 0
hScc1 BcellGSE12603 65842660 65844066 1406 0
hScc1 CdLSGSE12603 65842660 65844066 1406 0
p130 QuiescentGSE19898 65879284 65879479 195 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
24105 mRNA RABGEF1 chr7 65649869 65720596 1467 mRNA chr7 65719129 65753963Sense/Antisense (SA) pairs

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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