AutismKB 2.0

Annotation Detail for EXTL3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EXTL3 ( BOTV,DKFZp686C2342,EXTR1,KIAA0519,REG,REGR,RPR )
Gene Full Name: exostoses (multiple)-like 3
Band: 8p21.1
Quick LinksEntrez ID:2137; OMIM: 605744; Uniprot ID:EXTL3_HUMAN; ENSEMBL ID: ENSG00000012232; HGNC ID: 3518
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
277N-linked (GlcNAc...) (Potential).
290N-linked (GlcNAc...) (Potential).
592N-linked (GlcNAc...) (Potential).
790N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
277N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
290N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
592N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
790N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
88Phosphoserine(PKG)HMM predict
355Phosphoserine(CK1)HMM predict
501Phosphoserine(CK1)HMM predict
584Phosphotyrosine(Abl)HMM predict
584Phosphotyrosine(SRC)HMM predict
592N-linkedHMM predict
791Phosphotyrosine(INSR)HMM predict
828Phosphotyrosine(Jak)HMM predict
908LeucineHMM predict
917LysineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001440
  • Location:chr8 28615071-28667120
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 28614850 28615083 233 105
CTCF CD4SISSRdata 28614850 28615083 233 105
H3K4me3 colorectalcancer 28614791 28615078 287 137
KLF4 hESGSE17917 28614639 28614798 159 353
NFkBII GM10847GSE19485 28614248 28615606 1358 145
Oct1 HelaGSE14283 28597890 28597918 28 17168
Oct1 HelaGSE14283 28598520 28598550 30 16537
hScc1 CdLSGSE12603 28614622 28615338 716 92
p130 SenescentGSE19898 28614208 28614672 464 632
p63 keratinocytesGSE17611 28606097 28606824 727 8611
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 28668044 28668078 34 941
Oct1 HelaGSE14283 28668048 28668090 42 949
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 28658620 28658739 119 0
CTCF CD4SISSRdata 28658620 28658739 119 0
CTCF G2GSE9613 28614822 28615770 948 0
CTCF G2GSE9613 28630080 28631399 1319 0
CTCF G2GSE9613 28635497 28635885 388 0
CTCF G2GSE9613 28666582 28666822 240 0
H3K4me2 HCT116GSE10453 28616428 28617034 606 0
H3ac HepG2E 28616053 28617904 1851 0
Myc K562GSE19551 28644186 28644405 219 0
Myc K562GSE19551 28658555 28658894 339 0
NRSF JurkatGSE13047 28650563 28651581 1018 0
NRSF mAbJurkat 28648573 28649220 647 0
NRSF mAbJurkat 28650586 28651652 1066 0
NRSF mAbJurkat 28651965 28652723 758 0
NRSF mAbJurkat 28653071 28653693 622 0
NRSF-mono JurkatQuESTdata 28650691 28651545 854 0
NRSF pAbJurkat 28650631 28651652 1021 0
NRSF pAbJurkat 28651965 28652723 758 0
NRSF pAbJurkat 28653071 28653693 622 0
NRSF-poly JurkatQuESTdata 28650840 28651510 670 0
Nanog ESGSE20650 28658485 28658747 262 0
Oct1 HelaGSE14283 28634952 28634993 41 0
Oct1 HelaGSE14283 28640332 28640407 75 0
Pol3 GM12878GSE19551 28644182 28644613 431 0
TFAP2C MCF7GSE21234 28639919 28640425 506 0
TFAP2C MCF7GSE21234 28661887 28662327 440 0
hScc1 BcellGSE12603 28615520 28615812 292 0
p63 keratinocytesGSE17611 28657086 28657960 874 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-142-3p hsa-mir-142 17 19098714
No data
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