AutismKB 2.0

Annotation Detail for ENPP3


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Basic Information Top
Gene Symbol:ENPP3 ( B10,CD203c,NPP3,PD-IBETA,PDNP3 )
Gene Full Name: ectonucleotide pyrophosphatase/phosphodiesterase 3
Band: 6q23.2
Quick LinksEntrez ID:5169; OMIM: 602182; Uniprot ID:ENPP3_HUMAN; ENSEMBL ID: ENSG00000154269; HGNC ID: 3358
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
80Cell attachment site (Potential).
236N-linked (GlcNAc...) (Potential).
279N-linked (GlcNAc...) (Potential).
290N-linked (GlcNAc...) (Potential).
426N-linked (GlcNAc...) (Potential).
533N-linked (GlcNAc...) (Potential).
582N-linked (GlcNAc...) (Potential).
594N-linked (GlcNAc...) (Potential).
687N-linked (GlcNAc...) (Potential).
699N-linked (GlcNAc...) (Potential).
789N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
236N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
279N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
290N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
426N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
533N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
582N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
594N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
687N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
699N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
789N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
17Phosphothreonine(PKC)HMM predict
111Phosphoserine(IKK)HMM predict
279N-linkedHMM predict
290N-linkedHMM predict
327Phosphoserine(ATM)HMM predict
439Phosphotyrosine(Syk)HMM predict
485Phosphotyrosine(Syk)HMM predict
533N-linkedHMM predict
582N-linkedHMM predict
594N-linkedHMM predict
655O-linkedHMM predict
687N-linkedHMM predict
699N-linkedHMM predict
702Phosphoserine(CK1)HMM predict
753SulfotyrosineHMM predict
789N-linkedHMM predict
793Phosphothreonine(CDC2)HMM predict
813Phosphothreonine(PKA)HMM predict
851Phosphotyrosine(EGFR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_005021
  • Location:chr6 132000134-132110241
  • strand:+
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 132117644 132118119 475 7640
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 132057719 132057865 146 0
CTCF G2GSE9613 132073826 132074061 235 0
FoxA1 MCF7MACSdata 132014683 132014916 233 0
FoxA1 MCF7MACSdata 132015409 132015536 127 0
H3ac HepG2E 132005816 132005995 179 0
NFkBII GM12892GSE19485 132047907 132048948 1041 0
NFkBII GM18505GSE19485 132047808 132048946 1138 0
Nanog ESGSE20650 132107239 132107684 445 0
Oct1 H2O2-HelaGSE14283 132026440 132026494 54 0
Oct1 H2O2-HelaGSE14283 132036207 132036240 33 0
Oct1 HelaGSE14283 132026453 132026494 41 0
Oct1 HelaGSE14283 132036202 132036245 43 0
TAF k562GSE8489 131999951 132001234 1283 0
TAF k562GSE8489 132001798 132002602 804 0
TFAP2C MCF7GSE21234 132014567 132015136 569 0
hScc1 CdLSGSE12603 132057719 132058005 286 0
hScc1 G2GSE9613 132057719 132057902 183 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 18827405
hsa-miR-1 hsa-mir-1-1 20 18827405
hsa-miR-133a hsa-mir-133a-1 18 18827405
hsa-miR-133a hsa-mir-133a-2 20 18827405
hsa-miR-142-5p hsa-mir-142 17 20881307
hsa-miR-182 hsa-mir-182 7 20881307
hsa-miR-182* hsa-mir-182 7 20881307
hsa-miR-206 hsa-mir-206 6 18827405
hsa-miR-21 hsa-mir-21 17 20881307
hsa-miR-21* hsa-mir-21 17 20881307
No data
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
23167 mRNA ENPP3 chr6 132000167 132109896 933 mRNA OR2A4 chr6 132063301 132064234 Non-exonic Bidirectional (NOB) pairs

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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