AutismKB 2.0

Annotation Detail for EBP


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Basic Information Top
Gene Symbol:EBP ( CDPX2,CHO2,CPX,CPXD )
Gene Full Name: emopamil binding protein (sterol isomerase)
Band: Xp11.23
Quick LinksEntrez ID:10682; OMIM: 300205; Uniprot ID:EBP_HUMAN; ENSEMBL ID: ENSG00000147155; HGNC ID: 3133
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylthreonine (By similarity).
Location(AA) Modifications Resource
2N-acetylthreonine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
60Phosphothreonine(PKC)HMM predict
111Phosphotyrosine(INSR)HMM predict
116N-linkedHMM predict
160Phosphotyrosine(EGFR)HMM predict
217Phosphothreonine(PKC)HMM predict
223Phosphothreonine(PKC)HMM predict
230AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006579
  • Location:chrX 48265200-48272045
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 48264102 48265459 1357 420
Gata2 K562GSE18868 48264442 48265248 806 356
RARA MCF7GSE15244 48264512 48265044 532 423
RARG MCF7GSE15244 48264512 48264927 415 481
Rb SenescentGSE19898 48264886 48265171 285 172
p130 QuiescentGSE19898 48264959 48265220 261 111
p130 SenescentGSE19898 48264838 48265246 408 159
p130 shRbQuiescentGSE19898 48264706 48265466 760 115
p130 shRbSenescentGSE19898 48264744 48265195 451 231
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 48276387 48276792 405 4544
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 48264927 48265476 549 0
CTCF G2GSE9613 48271559 48271843 284 0
H3ac HepG2E 48265476 48265931 455 0
hScc1 BcellGSE12603 48265082 48265897 815 0
hScc1 G2GSE9613 48265152 48265375 223 0
hScc1 G2GSE9613 48271631 48271769 138 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-122 hsa-mir-122 18 21038412
hsa-miR-122 hsa-mir-122 18 20842632
hsa-miR-122* hsa-mir-122 18 21038412
hsa-miR-122* hsa-mir-122 18 20842632
hsa-miR-124 hsa-mir-124-1 8 18451139
hsa-miR-124 hsa-mir-124-2 8 18451139
hsa-miR-124 hsa-mir-124-3 20 18451139
hsa-miR-124* hsa-mir-124-1 8 18451139
hsa-miR-155 hsa-mir-155 21 20680360
hsa-miR-155 hsa-mir-155 21 19887047
hsa-miR-155* hsa-mir-155 21 20680360
hsa-miR-155* hsa-mir-155 21 19887047
hsa-miR-218 hsa-mir-218-1 4 17998940
hsa-miR-218 hsa-mir-218-2 5 17998940
No data
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
27605 mRNA EBP chrX 48136510 48143356 423 EST chrX 48136487 48141834Sense/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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