AutismKB 2.0

Annotation Detail for EXTL2


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Basic Information Top
Gene Symbol:EXTL2 ( EXTR2 )
Gene Full Name: exostoses (multiple)-like 2
Band: 1p21.2
Quick LinksEntrez ID:2135; OMIM: 602411; Uniprot ID:EXTL2_HUMAN; ENSEMBL ID: ENSG00000162694; HGNC ID: 3516
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
74N-linked (GlcNAc...).
Location(AA) Modifications Resource
74N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
74N-linkedHMM predict
157PhosphothreonineHMM predict
208Phosphotyrosine(Abl)HMM predict
280Phosphotyrosine(INSR)HMM predict
325AsparagineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001033025
  • Location:chr1 101110528-101133005
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 101132774 101133889 1115 326
H3ac HepG2E 101132556 101133788 1232 167
RARA MCF7GSE15244 101132589 101133970 1381 274
SRF GMOGSE8489 101132625 101133749 1124 182
TFAP2C MCF7GSE21234 101132826 101133293 467 54
p130 shRbQuiescentGSE19898 101132643 101133500 857 66
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 101104230 101104834 604 5997
Nanog hESGSE18292 101098654 101098916 262 11744
hScc1 BcellGSE12603 101106686 101106959 273 3706
hScc1 CdLSGSE12603 101104515 101105064 549 5739
hScc1 G2GSE9613 101104193 101104929 736 5968
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 101131658 101132256 598 0
Oct1 H2O2-HelaGSE14283 101125675 101125725 50 0
Oct1 HelaGSE14283 101120740 101120774 34 0
Oct1 HelaGSE14283 101125675 101125724 49 0
TAF HelaGSE8489 101132379 101133513 1134 0
TAF k562GSE8489 101131416 101133348 1932 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