AutismKB 2.0

Annotation Detail for ENPP1


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Basic Information Top
Gene Symbol:ENPP1 ( ARHR2,M6S1,NPP1,NPPS,PC-1,PCA1,PDNP1 )
Gene Full Name: ectonucleotide pyrophosphatase/phosphodiesterase 1
Band: 6q23.2
Quick LinksEntrez ID:5167; OMIM: 173335; Uniprot ID:ENPP1_HUMAN; ENSEMBL ID: ENSG00000197594; HGNC ID: 3356
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
52Di-leucine motif.
179N-linked (GlcNAc...) (Potential).
285N-linked (GlcNAc...) (Potential).
341N-linked (GlcNAc...).
477N-linked (GlcNAc...) (Potential).
585N-linked (GlcNAc...) (Potential).
643N-linked (GlcNAc...).
700N-linked (GlcNAc...) (Potential).
731N-linked (GlcNAc...) (Potential).
748N-linked (GlcNAc...).
Location(AA) Modifications Resource
179N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
285N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
341N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
477N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
585N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
643N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
700N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
731N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
748N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
21MethylarginineHMM predict
68Phosphothreonine(PKC)HMM predict
75Phosphotyrosine(Syk)HMM predict
162Phosphoserine(IKK)HMM predict
179N-linkedHMM predict
341N-linkedHMM predict
371SulfotyrosineHMM predict
378Phosphoserine(CK1)HMM predict
382Phosphotyrosine(INSR)HMM predict
513Phosphotyrosine(Syk)HMM predict
523N-linkedHMM predict
578N-linkedHMM predict
584N-linkedHMM predict
585N-linkedHMM predict
601Phosphothreonine(CDK)HMM predict
629N-linkedHMM predict
643N-linkedHMM predict
684Phosphoserine(ATM)HMM predict
700N-linkedHMM predict
721Phosphoserine(CDK)HMM predict
721Phosphoserine(CDC2)HMM predict
731N-linkedHMM predict
732N-linkedHMM predict
748N-linkedHMM predict
809Phosphoserine(PKA)HMM predict
844Phosphothreonine(MAPK)HMM predict
844Phosphothreonine(CDK)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006208
  • Location:chr6 132170852-132254042
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 132170413 132171184 771 54
Myc hESGSE17917 132170279 132170690 411 368
Oct1 H2O2-HelaGSE14283 132162854 132162888 34 7982
Oct1 HelaGSE14283 132162853 132162887 34 7983
Rb GrowingGSE19898 132154811 132155029 218 15933
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 132272921 132273103 182 18970
CTCF CD4SISSRdata 132272921 132273103 182 18970
CTCF G2GSE9613 132272758 132273051 293 18862
Nanog ESGSE20650 132264204 132264629 425 10374
Oct1 HelaGSE14283 132265386 132265416 30 11359
USF2 HepG2E 132257559 132258283 724 3879
hScc1 CdLSGSE12603 132272758 132272980 222 18827
hScc1 G2GSE9613 132272758 132273092 334 18883
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 132253296 132253330 34 0
FOXA1 MCF7GSE15244 132186108 132187241 1133 0
FoxA1 MCF7MACSdata 132186198 132186386 188 0
FoxA1 MCF7MACSdata 132206991 132207368 377 0
FoxA1 MCF7MACSdata 132226813 132227055 242 0
FoxA1 MCF7MACSdata 132249485 132249638 153 0
H3ac HepG2E 132171324 132172071 747 0
H3ac HepG2E 132208558 132209645 1087 0
Myc K562GSE19551 132191046 132191283 237 0
Oct1 H2O2-HelaGSE14283 132248268 132248303 35 0
Oct1 HelaGSE14283 132248273 132248304 31 0
P300 T30-glioblastomaGSE21026 132226719 132227374 655 0
RARA MCF7GSE15244 132186108 132186534 426 0
RARG MCF7GSE15244 132186146 132187171 1025 0
TFAP2C MCF7GSE21234 132206925 132207564 639 0
TFAP2C MCF7GSE21234 132226846 132227104 258 0
hScc1 BcellGSE12603 132170488 132171288 800 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