AutismKB 2.0

Annotation Detail for CDC42EP4


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Basic Information Top
Gene Symbol:CDC42EP4 ( BORG4,CEP4,KAIA1777,MGC17125,MGC3740 )
Gene Full Name: CDC42 effector protein (Rho GTPase binding) 4
Band: 17q25.1
Quick LinksEntrez ID:23580; OMIM: 605468; Uniprot ID:BORG4_HUMAN; ENSEMBL ID: ENSG00000179604; HGNC ID: 17147
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
64Phosphoserine.
109Phosphoserine (By similarity).
138Phosphoserine.
141Phosphoserine (By similarity).
142Phosphoserine.
174Phosphoserine.
292Phosphoserine.
295Phosphoserine.
Location(AA) Modifications Resource
138PhosphoserinePhospho.ELM 6.0
140PhosphoserinePhospho.ELM 6.0
142PhosphoserinePhospho.ELM 6.0
174Phosphoserine.Swiss-Prot 53.0
174PhosphoserinePhospho.ELM 6.0
292Phosphoserine.Swiss-Prot 53.0
292PhosphoserinePhospho.ELM 6.0
295Phosphoserine.Swiss-Prot 53.0
295PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
11Phosphoserine(CK2)HMM predict
14Phosphoserine(PKC)HMM predict
14Phosphoserine(CK1)HMM predict
70Phosphoserine(CK2)HMM predict
71Phosphoserine(CK2)HMM predict
72Phosphoserine(CDC2)HMM predict
73Phosphoserine(CK1)HMM predict
89Phosphoserine(ATM)HMM predict
138Phosphoserine(IKK)HMM predict
140PhosphoserineHMM predict
142Phosphoserine(CDK)HMM predict
142Phosphoserine(ATM)HMM predict
142Phosphoserine(CDC2)HMM predict
142Phosphoserine(CDK)HMM predict
159Phosphothreonine(PKC)HMM predict
174Phosphoserine(MAPK)HMM predict
275Phosphoserine(CK1)HMM predict
295Phosphoserine(IKK)HMM predict
307O-linkedHMM predict
308Phosphoserine(IKK)HMM predict
309O-linkedHMM predict
309Phosphoserine(IKK)HMM predict
309O-linkedHMM predict
311Phosphoserine(IKK)HMM predict
311Phosphoserine(CK2)HMM predict
336Phosphoserine(PKG)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012121
  • Location:chr17 68791358-68819737
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NFkBII GM12878GSE19485 68824144 68825682 1538 5176
p130 QuiescentGSE19898 68819807 68820022 215 177
p130 QuiescentGSE19898 68831791 68832021 230 12169
p130 SenescentGSE19898 68819752 68819960 208 119
p130 SenescentGSE19898 68831776 68832079 303 12190
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 68791042 68791075 33 300
Oct1 HelaGSE14283 68775433 68775462 29 15911
Oct1 HelaGSE14283 68790862 68790893 31 481
Oct1 HelaGSE14283 68791042 68791075 33 300
RARA MCF7GSE15244 68786042 68786758 716 4959
RARG MCF7GSE15244 68786475 68786795 320 4724
TFAP2C MCF7GSE21234 68775295 68775950 655 15736
p63 keratinocytesGSE17611 68778568 68779436 868 12357
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 68795457 68795738 281 0
CTCF G2GSE9613 68812790 68813151 361 0
CTCF G2GSE9613 68818355 68818636 281 0
CTCF G2GSE9613 68819101 68819411 310 0
FOXA1 MCF7GSE15244 68794182 68794951 769 0
Gata1 K562GSE18868 68815816 68816467 651 0
Gata2 K562GSE18868 68815784 68816555 771 0
H3K4me2 HCT116GSE10453 68800881 68801738 857 0
H3K4me3 colorectalcancer 68817443 68817935 492 0
H3ac HepG2E 68809883 68810071 188 0
H3ac HepG2E 68815792 68816458 666 0
H3ac HepG2E 68817122 68818569 1447 0
KLF4 hESGSE17917 68791237 68791585 348 0
RARA MCF7GSE15244 68796385 68796792 407 0
RARA MCF7GSE15244 68815792 68816458 666 0
RARG MCF7GSE15244 68794182 68794828 646 0
RARG MCF7GSE15244 68796316 68796792 476 0
RARG MCF7GSE15244 68801450 68801767 317 0
RARG MCF7GSE15244 68815792 68816458 666 0
Rb QuiescentGSE19898 68818719 68819292 573 0
Rb SenescentGSE19898 68818742 68819532 790 0
STAT1 HeLaGSE12783 68811104 68815282 4178 0
TFAP2C MCF7GSE21234 68794662 68795529 867 0
TFAP2C MCF7GSE21234 68796155 68797061 906 0
TFAP2C MCF7GSE21234 68798054 68798601 547 0
TFAP2C MCF7GSE21234 68798942 68799640 698 0
TFAP2C MCF7GSE21234 68814693 68815345 652 0
TFAP2C MCF7GSE21234 68815716 68816640 924 0
hScc1 BcellGSE12603 68819173 68819710 537 0
p130 SenescentGSE19898 68801332 68801617 285 0
p130 SenescentGSE19898 68818204 68818582 378 0
p130 SenescentGSE19898 68818753 68819294 541 0
p130 shRbQuiescentGSE19898 68811538 68812064 526 0
p130 shRbQuiescentGSE19898 68812474 68813403 929 0
p130 shRbSenescentGSE19898 68812717 68813477 760 0
p130 shRbSenescentGSE19898 68818688 68818881 193 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
11605 EST chr17 68794515 68797295 2780 mRNA CDC42EP4 chr17 68791358 68819738 Non-exonic Bidirectional (NOB) 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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