AutismKB 2.0

Annotation Detail for EDIL3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EDIL3 ( DEL1,MGC26287 )
Gene Full Name: EGF-like repeats and discoidin I-like domains 3
Band: 5q14.3
Quick LinksEntrez ID:10085; OMIM: 606018; Uniprot ID:EDIL3_HUMAN; ENSEMBL ID: ENSG00000164176; HGNC ID: 3173
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
98Cell attachment site (Potential).
Location(AA) Modifications Resource
Location(AA) Modification Resource
58N-linkedHMM predict
74O-linkedHMM predict
179Phosphothreonine(PKC)HMM predict
242Phosphotyrosine(Jak)HMM predict
242Phosphotyrosine(INSR)HMM predict
242Phosphotyrosine(EGFR)HMM predict
277N-linkedHMM predict
278N-linkedHMM predict
283N-linkedHMM predict
306Phosphothreonine(PKA)HMM predict
389Phosphothreonine(PKA)HMM predict
439N-linkedHMM predict
445N-linkedHMM predict
452Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005711
  • Location:chr5 83273881-83716366
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 83716788 83717295 507 675
Oct1 HelaGSE14283 83718259 83718298 39 1912
STAT1 HeLaGSE12783 83724985 83726245 1260 9249
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 83258707 83259067 360 14995
CTCF CD4SISSRdata 83258707 83259067 360 14995
CTCF G2GSE9613 83258743 83259185 442 14918
KLF4 hESGSE17917 83258810 83259083 273 14935
Oct1 H2O2-HelaGSE14283 83266646 83266685 39 7216
Oct1 HelaGSE14283 83266648 83266685 37 7215
Oct4 hESGSE17917 83258811 83259182 371 14885
hScc1 BcellGSE12603 83258743 83259253 510 14884
hScc1 CdLSGSE12603 83258670 83259111 441 14991
hScc1 G2GSE9613 83258634 83259321 687 14904
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 83632834 83633618 784 0
CTCF G2GSE9613 83713779 83714228 449 0
CTCF G2GSE9613 83715395 83716454 1059 0
ER E2-MCF7GSE14664 83309299 83309339 40 0
FOXA1 MCF7GSE15244 83423062 83423561 499 0
Nanog ESGSE20650 83368400 83368862 462 0
Nanog hESGSE18292 83597098 83597835 737 0
Oct1 H2O2-HelaGSE14283 83309283 83309342 59 0
Oct1 H2O2-HelaGSE14283 83364545 83364577 32 0
Oct1 H2O2-HelaGSE14283 83409208 83409237 29 0
Oct1 H2O2-HelaGSE14283 83414318 83414346 28 0
Oct1 H2O2-HelaGSE14283 83415523 83415556 33 0
Oct1 H2O2-HelaGSE14283 83566952 83567020 68 0
Oct1 H2O2-HelaGSE14283 83573265 83573293 28 0
Oct1 H2O2-HelaGSE14283 83583726 83583764 38 0
Oct1 H2O2-HelaGSE14283 83706593 83706634 41 0
Oct1 HelaGSE14283 83309293 83309341 48 0
Oct1 HelaGSE14283 83359881 83359913 32 0
Oct1 HelaGSE14283 83364542 83364580 38 0
Oct1 HelaGSE14283 83415522 83415556 34 0
Oct1 HelaGSE14283 83544780 83544807 27 0
Oct1 HelaGSE14283 83566951 83566987 36 0
Oct1 HelaGSE14283 83583726 83583764 38 0
Oct1 HelaGSE14283 83706593 83706628 35 0
P300 T30-glioblastomaGSE21026 83632888 83633872 984 0
RARA MCF7GSE15244 83349402 83350316 914 0
STAT1 HeLaGSE12782 83348752 83350532 1780 0
STAT1 HeLaGSE12783 83348879 83350498 1619 0
TFAP2C MCF7GSE21234 83619615 83619907 292 0
USF1 HepG2E 83422654 83423489 835 0
hScc1 BcellGSE12603 83715325 83716071 746 0
hScc1 G2GSE9613 83713463 83714374 911 0
p130 shRbQuiescentGSE19898 83713901 83714540 639 0
p63 keratinocytesGSE17611 83546976 83547763 787 0
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved