AutismKB 2.0

Annotation Detail for EXTL1


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Basic Information Top
Gene Symbol:EXTL1 ( EXTL,MGC70794 )
Gene Full Name: exostoses (multiple)-like 1
Band: 1p36.11
Quick LinksEntrez ID:2134; OMIM: 601738; Uniprot ID:EXTL1_HUMAN; ENSEMBL ID: ENSG00000158008; HGNC ID: 3515
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
269N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
269N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
9Phosphoserine(PKA)HMM predict
9Phosphoserine(PKG)HMM predict
43Phosphoserine(ATM)HMM predict
57Phosphoserine(IKK)HMM predict
59Phosphoserine(ATM)HMM predict
70O-linkedHMM predict
127Phosphoserine(CDC2)HMM predict
127Phosphoserine(CDK)HMM predict
138Phosphoserine(MAPK)HMM predict
148Phosphoserine(IKK)HMM predict
208MethylarginineHMM predict
261Phosphothreonine(PKC)HMM predict
269N-linkedHMM predict
501Phosphoserine(CK1)HMM predict
503Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004455
  • Location:chr1 26220857-26235538
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP JurkatGSE17954 26215550 26217115 1565 4525
P300 T0-glioblastomaGSE21026 26214498 26214891 393 6163
TFAP2C MCF7GSE21234 26214376 26214872 496 6234
TFAP2C MCF7GSE21234 26216478 26217064 586 4087
p130 shRbQuiescentGSE19898 26215725 26216240 515 4875
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 26235028 26235381 353 0
CTCF CD4SISSRdata 26235028 26235381 353 0
CTCF G2GSE9613 26221081 26221730 649 0
CTCF G2GSE9613 26227477 26227809 332 0
CTCF G2GSE9613 26234331 26235992 1661 0
Fos K562GSE19551 26234159 26234900 741 0
H3ac HepG2E 26233563 26234009 446 0
TFAP2C MCF7GSE21234 26234993 26236082 1089 0
hScc1 BcellGSE12603 26221656 26222285 629 0
hScc1 BcellGSE12603 26224151 26224346 195 0
hScc1 BcellGSE12603 26231193 26231564 371 0
hScc1 BcellGSE12603 26234810 26235641 831 0
hScc1 CdLSGSE12603 26234920 26235493 573 0
hScc1 G2GSE9613 26234475 26235951 1476 0
p130 SenescentGSE19898 26234291 26234545 254 0
p130 shRbSenescentGSE19898 26233992 26234378 386 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