AutismKB 2.0

Annotation Detail for EXT2


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Basic Information Top
Gene Symbol:EXT2 ( SOTV )
Gene Full Name: exostosin 2
Band: 11p11.2
Quick LinksEntrez ID:2132; OMIM: 608210; Uniprot ID:EXT2_HUMAN; ENSEMBL ID: ENSG00000151348; HGNC ID: 3513
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
288N-linked (GlcNAc...) (Potential).
637N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
288N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
637N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
52Phosphoserine(CK1)HMM predict
123Phosphoserine(IKK)HMM predict
142Phosphotyrosine(Syk)HMM predict
142PhosphotyrosineHMM predict
143SulfotyrosineHMM predict
143Phosphotyrosine(Syk)HMM predict
375Phosphoserine(CK1)HMM predict
608SulfotyrosineHMM predict
637N-linkedHMM predict
647Phosphothreonine(MAPK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000401
  • Location:chr11 44073674-44223554
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 44072430 44072790 360 1065
hScc1 CdLSGSE12603 44072273 44072790 517 1143
hScc1 G2GSE9613 44072355 44072790 435 1102
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 44230617 44230647 30 7078
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 44088368 44088644 276 0
CTCF CD4SISSRdata 44088368 44088644 276 0
CTCF HelaGSE12889 44098408 44098618 210 0
ER MCF7GSE19013 44074317 44074941 624 0
FOXA1 DLD1GSE12801 44118931 44119133 202 0
FOXA1 DLD1GSE12801 44121921 44122963 1042 0
FOXA1 MCF7GSE15244 44121777 44122769 992 0
FOXA1 MCF7GSE15244 44169222 44169825 603 0
FoxA1 MCF7MACSdata 44122098 44122438 340 0
GATA3 MCF7GSE15244 44121921 44122963 1042 0
H3K4me3 colorectalcancer 44074801 44075107 306 0
H3ac HepG2E 44074496 44075371 875 0
Myc hESGSE17917 44098439 44098635 196 0
Myc hESGSE17917 44169012 44169372 360 0
Oct1 H2O2-HelaGSE14283 44138214 44138244 30 0
Oct1 HelaGSE14283 44092903 44092937 34 0
Oct1 HelaGSE14283 44096210 44096245 35 0
Oct1 HelaGSE14283 44100884 44100946 62 0
Oct1 HelaGSE14283 44112093 44112135 42 0
PHF8 HeLaGSE20725 44073378 44074765 1387 0
RARA MCF7GSE15244 44121739 44123149 1410 0
RARA MCF7GSE15244 44168996 44170085 1089 0
RARA MCF7GSE15244 44197831 44198714 883 0
RARG MCF7GSE15244 44121815 44123001 1186 0
RARG MCF7GSE15244 44169148 44170008 860 0
Rb GrowingGSE19898 44111523 44111744 221 0
TFAP2C MCF7GSE21234 44122005 44122533 528 0
hScc1 BcellGSE12603 44088322 44088770 448 0
hScc1 CdLSGSE12603 44088286 44088939 653 0
hScc1 G2GSE9613 44088342 44088770 428 0
hScc1 G2GSE9613 44110823 44110992 169 0
hScc1 G2GSE9613 44111529 44111937 408 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


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