AutismKB 2.0

Annotation Detail for RAPGEF2


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Basic Information Top
Gene Symbol:RAPGEF2 ( CNrasGEF,NRAPGEP,PDZ-GEF1,PDZGEF1,RA-GEF,Rap-GEP,nRap GEP )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 2
Band: 4q32.1
Quick LinksEntrez ID:9693; OMIM: 609530; Uniprot ID:RPGF2_HUMAN; ENSEMBL ID: ENSG00000109756; HGNC ID: 16854
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
418Phosphoserine (By similarity).
420Phosphoserine (By similarity).
935Phosphoserine.
1022Phosphoserine.
1116Phosphoserine.
1119Phosphothreonine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
46Phosphoserine(CK2)HMM predict
46Phosphoserine(IKK)HMM predict
54Phosphoserine(IKK)HMM predict
56Phosphoserine(IKK)HMM predict
63Phosphotyrosine(Jak)HMM predict
63Phosphotyrosine(Syk)HMM predict
85Phosphoserine(CK2)HMM predict
138N-linkedHMM predict
178N-linkedHMM predict
209Phosphotyrosine(INSR)HMM predict
387Phosphothreonine(PKC)HMM predict
423Phosphothreonine(CK2)HMM predict
455N-linkedHMM predict
456N-linkedHMM predict
543Phosphoserine(PKG)HMM predict
550Phosphotyrosine(Syk)HMM predict
558Phosphoserine(ATM)HMM predict
562Phosphoserine(IKK)HMM predict
579O-linkedHMM predict
644O-linkedHMM predict
650Phosphotyrosine(SRC)HMM predict
651Phosphoserine(IKK)HMM predict
658PhosphothreonineHMM predict
741SulfotyrosineHMM predict
833Phosphotyrosine(Syk)HMM predict
884N-linkedHMM predict
912Phosphoserine(CAMK2)HMM predict
935Phosphoserine(ATM)HMM predict
938O-linkedHMM predict
940N-linkedHMM predict
949Phosphothreonine(PKC)HMM predict
949Phosphothreonine(MAPK)HMM predict
1022Phosphoserine(IKK)HMM predict
1022O-linkedHMM predict
1095Phosphoserine(CK1)HMM predict
1108Phosphoserine(IKK)HMM predict
1109N-linkedHMM predict
1112Phosphoserine(ATM)HMM predict
1112Phosphoserine(CK1)HMM predict
1115O-linkedHMM predict
1116Phosphoserine(CDC2)HMM predict
1116Phosphoserine(IKK)HMM predict
1116O-linkedHMM predict
1116Phosphoserine(ATM)HMM predict
1119O-linkedHMM predict
1120Phosphoserine(CDC2)HMM predict
1120O-linkedHMM predict
1120Phosphoserine(MAPK)HMM predict
1123Phosphoserine(CDK)HMM predict
1124Phosphoserine(CDK)HMM predict
1124PhosphoserineHMM predict
1124Phosphoserine(CDC2)HMM predict
1139N-linkedHMM predict
1141Phosphoserine(CK1)HMM predict
1143Phosphoserine(CK2)HMM predict
1153Phosphoserine(IKK)HMM predict
1153Phosphoserine(CK1)HMM predict
1157N-linkedHMM predict
1200Phosphotyrosine(INSR)HMM predict
1205Phosphotyrosine(INSR)HMM predict
1219O-linkedHMM predict
1222O-linkedHMM predict
1223Phosphoserine(CDC2)HMM predict
1225PhosphoserineHMM predict
1230Phosphoserine(CK1)HMM predict
1230Phosphoserine(ATM)HMM predict
1248Phosphoserine(IKK)HMM predict
1249C-linkedHMM predict
1251O-linkedHMM predict
1253O-linkedHMM predict
1281SulfotyrosineHMM predict
1301Phosphoserine(ATM)HMM predict
1311N-linkedHMM predict
1316Phosphoserine(CK1)HMM predict
1325Phosphoserine(IKK)HMM predict
1325Phosphoserine(PKB)HMM predict
1325Phosphoserine(PKC)HMM predict
1332Phosphotyrosine(INSR)HMM predict
1359Phosphoserine(CK1)HMM predict
1360O-linkedHMM predict
1360Phosphoserine(CK1)HMM predict
1360Phosphoserine(IKK)HMM predict
1360O-linkedHMM predict
1362O-linkedHMM predict
1363Phosphoserine(CK1)HMM predict
1365O-linkedHMM predict
1396Phosphotyrosine(EGFR)HMM predict
1402O-linkedHMM predict
1444O-linkedHMM predict
1459O-linkedHMM predict
1472N-linkedHMM predict
1483Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
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