AutismKB 2.0

Annotation Detail for RAPGEF6


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Basic Information Top
Gene Symbol:RAPGEF6 ( DKFZp667N084,DKFZp686I15116,KIA001LB,PDZ-GEF2,PDZGEF2,RA-GEF-2,RAGEF2 )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 6
Band: 5q31.1
Quick LinksEntrez ID:51735; OMIM: 610499; Uniprot ID:RPGF6_HUMAN; ENSEMBL ID: ENSG00000158987,ENSG00000217128; HGNC ID: 20655
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
230Phosphoserine.
496Phosphothreonine.
1070Phosphoserine.
1494Phosphoserine.
1507Phosphothreonine.
1590Phosphoserine.
Location(AA) Modifications Resource
496Phosphothreonine.Swiss-Prot 53.0
1494Phosphoserine.Swiss-Prot 53.0
1494PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
21Phosphothreonine(MAPK)HMM predict
189Phosphoserine(IKK)HMM predict
191Phosphoserine(IKK)HMM predict
191Phosphoserine(CK2)HMM predict
199O-linkedHMM predict
199Phosphoserine(IKK)HMM predict
201Phosphoserine(IKK)HMM predict
208Phosphotyrosine(Syk)HMM predict
208Phosphotyrosine(Jak)HMM predict
230Phosphoserine(CK2)HMM predict
283N-linkedHMM predict
323N-linkedHMM predict
420Phosphothreonine(MAPK)HMM predict
565Phosphoserine(CK2)HMM predict
588N-linkedHMM predict
600N-linkedHMM predict
601N-linkedHMM predict
699Phosphoserine(ATM)HMM predict
701Phosphoserine(ATM)HMM predict
701Phosphoserine(IKK)HMM predict
705Phosphoserine(IKK)HMM predict
743Phosphoserine(ATM)HMM predict
744N-linkedHMM predict
793Phosphotyrosine(Jak)HMM predict
794Phosphoserine(IKK)HMM predict
801PhosphothreonineHMM predict
852Phosphoserine(PKG)HMM predict
884SulfotyrosineHMM predict
1027N-linkedHMM predict
1068Phosphoserine(PKG)HMM predict
1070Phosphoserine(ATM)HMM predict
1070Phosphoserine(IKK)HMM predict
1070Phosphoserine(CK1)HMM predict
1094Phosphoserine(PKG)HMM predict
1117Phosphoserine(MAPK)HMM predict
1146PhosphoserineHMM predict
1154O-linkedHMM predict
1157Phosphoserine(IKK)HMM predict
1167Phosphothreonine(PKC)HMM predict
1179Phosphoserine(PKA)HMM predict
1179Phosphoserine(PKA)HMM predict
1229Phosphoserine(IKK)HMM predict
1233Phosphoserine(CK1)HMM predict
1237PhosphoserineHMM predict
1237Phosphoserine(ATM)HMM predict
1241Phosphoserine(MAPK)HMM predict
1241Phosphoserine(CDC2)HMM predict
1241Phosphoserine(CDK)HMM predict
1241O-linkedHMM predict
1260N-linkedHMM predict
1262Phosphoserine(CK1)HMM predict
1262Phosphoserine(ATM)HMM predict
1265Phosphoserine(CK2)HMM predict
1267Phosphoserine(CK1)HMM predict
1274Phosphoserine(IKK)HMM predict
1274Phosphoserine(CK1)HMM predict
1280O-linkedHMM predict
1295Phosphoserine(IKK)HMM predict
1320Phosphoserine(ATM)HMM predict
1344Phosphoserine(CK2)HMM predict
1349Phosphoserine(ATM)HMM predict
1349Phosphoserine(CK1)HMM predict
1364Phosphoserine(IKK)HMM predict
1365C-linkedHMM predict
1367O-linkedHMM predict
1369O-linkedHMM predict
1370Phosphoserine(CK1)HMM predict
1411Phosphotyrosine(Jak)HMM predict
1412Phosphoserine(IKK)HMM predict
1432Phosphoserine(PKA)HMM predict
1432Phosphoserine(IKK)HMM predict
1438Phosphoserine(IKK)HMM predict
1443Phosphotyrosine(Syk)HMM predict
1443Phosphotyrosine(INSR)HMM predict
1449Phosphothreonine(PKC)HMM predict
1494Phosphoserine(CDC2)HMM predict
1501Phosphotyrosine(Syk)HMM predict
1501Phosphotyrosine(EGFR)HMM predict
1532Phosphotyrosine(INSR)HMM predict
1532Phosphotyrosine(SRC)HMM predict
1590Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016340
  • Location:chr5 130789502-130998827
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 130999134 130999467 333 473
H3K4me3 colorectalcancer 130999276 130999911 635 766
LIN9 SGSE7516 130998341 130999720 1379 203
PHF8 293TGSE20725 130998164 130999695 1531 102
PHF8 HeLaGSE20725 130998200 131000020 1820 283
TAF k562GSE8489 130999059 131000254 1195 829
TFAP2C MCF7GSE21234 130998487 130999603 1116 218
USF1 HepG2E 130998768 130999983 1215 548
hScc1 BcellGSE12603 130999101 130999467 366 457
p130 shRbQuiescentGSE19898 130998175 130999670 1495 95
p130 shRbSenescentGSE19898 130998340 130999605 1265 145
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 130780929 130781138 209 8469
CTCF CD4SISSRdata 130780929 130781138 209 8469
CTCF G2GSE9613 130780755 130781426 671 8412
Oct1 HelaGSE14283 130774404 130774464 60 15069
Oct1 HelaGSE14283 130780119 130780155 36 9366
hScc1 BcellGSE12603 130780791 130781426 635 8394
hScc1 BcellGSE12603 130786601 130787108 507 2648
hScc1 CdLSGSE12603 130780685 130781467 782 8427
hScc1 CdLSGSE12603 130786601 130787069 468 2668
hScc1 G2GSE9613 130780616 130781467 851 8461
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 130879104 130879701 597 0
CBP T30-glioblastomaGSE21026 130879419 130879878 459 0
CTCF CD4GSE12889 130953180 130953402 222 0
CTCF CD4SISSRdata 130953180 130953402 222 0
CTCF JurkatGSE12889 130953197 130953400 203 0
CTCF G2GSE9613 130953350 130953641 291 0
E2F4 G0GSE7516 130998305 130999349 1044 0
ER E2-MCF7GSE14664 130838674 130838707 33 0
ER E2-MCF7GSE14664 130843252 130843294 42 0
ER Fulvestrant-MCF7GSE14664 130822022 130822108 86 0
ER Fulvestrant-MCF7GSE14664 130838674 130838709 35 0
H3K4me3 colorectalcancer 130997352 130998305 953 0
H3ac HepG2E 130995697 130996372 675 0
H3ac HepG2E 130997352 131000254 2902 0
LIN9 G0GSE7516 130998120 130999427 1307 0
Nanog hESGSE18292 130978531 130978965 434 0
Oct1 H2O2-HelaGSE14283 130789942 130789976 34 0
Oct1 H2O2-HelaGSE14283 130804881 130804909 28 0
Oct1 H2O2-HelaGSE14283 130819903 130819934 31 0
Oct1 H2O2-HelaGSE14283 130835701 130835740 39 0
Oct1 H2O2-HelaGSE14283 130838676 130838707 31 0
Oct1 HelaGSE14283 130789938 130789978 40 0
Oct1 HelaGSE14283 130819897 130819930 33 0
Oct1 HelaGSE14283 130822068 130822096 28 0
Oct1 HelaGSE14283 130835700 130835740 40 0
Oct1 HelaGSE14283 130838674 130838717 43 0
Oct1 HelaGSE14283 130843243 130843294 51 0
Oct1 HelaGSE14283 130921335 130921376 41 0
P300 T30-glioblastomaGSE21026 130879232 130880013 781 0
P300 T30-glioblastomaGSE21026 130978367 130979200 833 0
TAF HelaGSE8489 130994727 130995232 505 0
TAF HelaGSE8489 130997352 131000254 2902 0
TAF k562GSE8489 130997352 130998603 1251 0
USF1 HepG2E 130900740 130901213 473 0
hScc1 BcellGSE12603 130953350 130953641 291 0
hScc1 CdLSGSE12603 130953121 130953641 520 0
hScc1 G2GSE9613 130953350 130953641 291 0
p130 QuiescentGSE19898 130998570 130998912 342 0
p130 SenescentGSE19898 130998203 130999367 1164 0
p130 G0GSE7516 130998120 130999427 1307 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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