AutismKB 2.0

Annotation Detail for CDC42EP1


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Basic Information Top
Gene Symbol:CDC42EP1 ( BORG5,CEP1,MGC15316,MSE55 )
Gene Full Name: CDC42 effector protein (Rho GTPase binding) 1
Band: 22q13.1
Quick LinksEntrez ID:11135; OMIM: 606084; Uniprot ID:BORG5_HUMAN; ENSEMBL ID: ENSG00000128283; HGNC ID: 17014
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
19Phosphoserine.
27Phosphoserine.
101Phosphoserine.
106Phosphoserine.
113Phosphoserine.
121Phosphoserine.
143Phosphoserine.
145Phosphothreonine.
190Phosphoserine.
192Phosphoserine.
195Phosphoserine.
350Phosphoserine.
353Phosphoserine.
Location(AA) Modifications Resource
121Phosphoserine (By similarity).Swiss-Prot 53.0
192Phosphoserine.Swiss-Prot 53.0
192PhosphoserinePhospho.ELM 6.0
195Phosphoserine (By similarity).Swiss-Prot 53.0
350Phosphoserine.Swiss-Prot 53.0
350PhosphoserinePhospho.ELM 6.0
353Phosphoserine.Swiss-Prot 53.0
353PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
8MethylarginineHMM predict
34Phosphothreonine(PKA)HMM predict
101PhosphoserineHMM predict
101Phosphoserine(IKK)HMM predict
101Phosphoserine(CDC2)HMM predict
101Phosphoserine(CAMK2)HMM predict
101Phosphoserine(PKA)HMM predict
101O-linkedHMM predict
106Phosphoserine(CDK)HMM predict
106O-linkedHMM predict
106Phosphoserine(CDC2)HMM predict
142O-linkedHMM predict
143Phosphoserine(ATM)HMM predict
143Phosphoserine(CDC2)HMM predict
148O-linkedHMM predict
224Phosphothreonine(MAPK)HMM predict
237N-linkedHMM predict
248O-linkedHMM predict
260O-linkedHMM predict
260O-linkedHMM predict
265O-linkedHMM predict
279O-linkedHMM predict
280O-linkedHMM predict
303Phosphoserine(CDC2)HMM predict
310MethylarginineHMM predict
331Phosphotyrosine(INSR)HMM predict
331SulfotyrosineHMM predict
365O-linkedHMM predict
367Phosphothreonine(MAPK)HMM predict
367Phosphothreonine(CDK)HMM predict
371O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_152243
  • Location:chr22 36286445-36295353
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 36271184 36271463 279 15122
CTCF CD4SISSRdata 36271184 36271463 279 15122
CTCF HelaGSE12889 36271127 36271408 281 15178
CTCF G2GSE9613 36270773 36271353 580 15383
Gata1 K562GSE18868 36278658 36279242 584 7496
Gata2 K562GSE18868 36278455 36279166 711 7635
H3ac HepG2E 36284702 36285076 374 1557
H3ac HepG2E 36285421 36285673 252 899
Jun K562GSE19551 36271051 36271548 497 15146
KLF4 hESGSE17917 36286099 36286525 426 134
Myc K562GSE19551 36278588 36279113 525 7595
PHF8 HeLaGSE20725 36285678 36286682 1004 266
PHF8 Hs68minusFBSGSE20725 36271508 36272789 1281 14297
Rb GrowingGSE19898 36271959 36272156 197 14388
Rb GrowingGSE19898 36285965 36286203 238 362
Rb SenescentGSE19898 36271873 36272267 394 14376
TFAP2C MCF7GSE21234 36267777 36268408 631 18353
TFAP2C MCF7GSE21234 36270402 36270908 506 15791
TFAP2C MCF7GSE21234 36278533 36279173 640 7593
hScc1 BcellGSE12603 36271038 36271464 426 15195
hScc1 BcellGSE12603 36278704 36279247 543 7470
hScc1 BcellGSE12603 36286063 36286740 677 44
hScc1 CdLSGSE12603 36271038 36271389 351 15232
hScc1 G2GSE9613 36270773 36271353 580 15383
p130 QuiescentGSE19898 36271564 36272111 547 14608
p130 QuiescentGSE19898 36272141 36272419 278 14166
p130 QuiescentGSE19898 36285870 36286284 414 369
p130 SenescentGSE19898 36271883 36272254 371 14377
p130 SenescentGSE19898 36285817 36286185 368 445
p130 shRbQuiescentGSE19898 36285844 36286246 402 401
p130 shRbSenescentGSE19898 36271928 36272331 403 14316
No data
No data
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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