AutismKB 2.0

Annotation Detail for EZR


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Basic Information Top
Gene Symbol:EZR ( CVIL,CVL,DKFZp762H157,FLJ26216,MGC1584,VIL2 )
Gene Full Name: ezrin
Band: 6q25.3
Quick LinksEntrez ID:7430; OMIM: 123900; Uniprot ID:EZRI_HUMAN; ENSEMBL ID: ENSG00000092820; HGNC ID: 12691
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
60N6-acetyllysine.
139N6-acetyllysine.
146Phosphotyrosine; by PDGFR.
354Phosphotyrosine; by PDGFR.
Location(AA) Modifications Resource
145Phosphotyrosine (Lck;EGFR)Phospho.ELM 6.0
146Phosphotyrosine (by PDGFR).Swiss-Prot 53.0
353Phosphotyrosine (EGFR)Phospho.ELM 6.0
354Phosphotyrosine (by PDGFR).Swiss-Prot 53.0
477Phosphotyrosine (Src)Phospho.ELM 6.0
566Phosphothreonine (GRK-2;ROCK1;)Phospho.ELM 6.0
Location(AA) Modification Resource
11Phosphothreonine(PKC)HMM predict
23N-linkedHMM predict
116Phosphotyrosine(Syk)HMM predict
116Phosphotyrosine(INSR)HMM predict
137Phosphotyrosine(INSR)HMM predict
146Phosphotyrosine(EGFR)HMM predict
332Phosphothreonine(PKC)HMM predict
332Phosphothreonine(PKA)HMM predict
354Phosphotyrosine(EGFR)HMM predict
366Phosphoserine(CK1)HMM predict
478Phosphotyrosine(SRC)HMM predict
478Phosphotyrosine(Syk)HMM predict
504Phosphoserine(CK1)HMM predict
519Phosphothreonine(CK2)HMM predict
539Phosphoserine(ATM)HMM predict
539Phosphoserine(CK1)HMM predict
567Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003379
  • Location:chr6 159106765-159159246
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 159158987 159160602 1615 548
NFkBII GM12878GSE19485 159167859 159168815 956 9091
NFkBII GM12892GSE19485 159162176 159163017 841 3350
PHF8 293TGSE20725 159159925 159161014 1089 1223
Pol2 GM12878GSE19551 159158894 159159621 727 11
Pol2 GM12878GSE19551 159159877 159160718 841 1051
PolII HeLaGSE12783 159158074 159161116 3042 349
hScc1 BcellGSE12603 159160082 159160562 480 1076
hScc1 CdLSGSE12603 159159837 159160643 806 994
hScc1 G2GSE9613 159158987 159160602 1615 548
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 159106526 159106901 375 52
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 159109448 159109700 252 0
CTCF G2GSE9613 159111080 159111418 338 0
CTCF G2GSE9613 159111892 159112207 315 0
CTCF G2GSE9613 159114468 159114879 411 0
CTCF G2GSE9613 159128581 159128721 140 0
CTCF G2GSE9613 159136830 159137456 626 0
ER MCF7GSE19013 159139845 159140631 786 0
FoxA1 MCF7MACSdata 159140132 159140393 261 0
Gata2 K562GSE18868 159158012 159158773 761 0
H3K4me3 colorectalcancer 159157534 159157786 252 0
H3K4me3 colorectalcancer 159158111 159159118 1007 0
H3ac HepG2E 159143862 159144074 212 0
H3ac HepG2E 159154054 159154586 532 0
H3ac HepG2E 159157534 159157786 252 0
H3ac HepG2E 159158111 159159089 978 0
Nanog hESGSE18292 159134505 159134787 282 0
P300 T0-glioblastomaGSE21026 159140161 159141177 1016 0
RARA MCF7GSE15244 159139952 159140899 947 0
TFAP2C MCF7GSE21234 159111580 159112047 467 0
hScc1 BcellGSE12603 159158208 159159298 1090 0
hScc1 CdLSGSE12603 159132557 159132701 144 0
hScc1 CdLSGSE12603 159134280 159134964 684 0
hScc1 CdLSGSE12603 159154998 159155540 542 0
hScc1 CdLSGSE12603 159158952 159159323 371 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-183 hsa-mir-183 7 20858276
hsa-miR-183 hsa-mir-183 7 18840437
hsa-miR-183* hsa-mir-183 7 20858276
hsa-miR-183* hsa-mir-183 7 18840437
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
23371 EST chr6 159209451 159213678 24 mRNA VIL2 chr6 159157186 159209668Sense/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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