AutismKB 2.0

Annotation Detail for PTPN11


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Basic Information Top
Gene Symbol:PTPN11 ( BPTP3,CFC,MGC14433,NS1,PTP-1D,PTP2C,SH-PTP2,SH-PTP3,SHP2 )
Gene Full Name: protein tyrosine phosphatase, non-receptor type 11
Band: 12q24.13
Quick LinksEntrez ID:5781; OMIM: 176876; Uniprot ID:PTN11_HUMAN; ENSEMBL ID: ENSG00000179295; HGNC ID: 9644
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
62Phosphotyrosine.
63Phosphotyrosine.
66Phosphotyrosine (By similarity).
280N6-acetyllysine.
546Phosphotyrosine; by PDGFR.
562Phosphoserine.
584Phosphotyrosine; by PDGFR.
595Phosphoserine.
Location(AA) Modifications Resource
62Phosphotyrosine.Swiss-Prot 53.0
62PhosphotyrosinePhospho.ELM 6.0
304PhosphotyrosinePhospho.ELM 6.0
546Phosphotyrosine (by PDGFR).Swiss-Prot 53.0
546Phosphotyrosine (PDGFR beta;P)Phospho.ELM 6.0
584Phosphotyrosine (by PDGFR).Swiss-Prot 53.0
584Phosphotyrosine (PDGFR
Location(AA) Modification Resource
10N-linkedHMM predict
62SulfotyrosineHMM predict
140Phosphoserine(PKG)HMM predict
140Phosphoserine(ATM)HMM predict
189Phosphoserine(IKK)HMM predict
217N-linkedHMM predict
222N-linkedHMM predict
319N-linkedHMM predict
320N-linkedHMM predict
503Phosphoserine(ATM)HMM predict
515Phosphotyrosine(SRC)HMM predict
528Phosphothreonine(PKC)HMM predict
546PhosphotyrosineHMM predict
546Phosphotyrosine(Jak)HMM predict
546Phosphotyrosine(INSR)HMM predict
558Phosphoserine(IKK)HMM predict
562Phosphoserine(CDK)HMM predict
562Phosphoserine(IKK)HMM predict
568Phosphothreonine(CDC2)HMM predict
568O-linkedHMM predict
590MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002834
  • Location:chr12 111340918-111432098
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 111339282 111339318 36 1619
ER Fulvestrant-MCF7GSE14664 111339281 111339318 37 1619
H3ac HepG2E 111337129 111337414 285 3647
Oct1 HelaGSE14283 111339286 111339318 32 1617
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 111441335 111441373 38 9256
Oct1 HelaGSE14283 111441380 111441449 69 9316
Sox2 hESGSE18292 111435736 111435990 254 3765
TFAP2C MCF7GSE21234 111444945 111445491 546 13120
TFAP2C MCF7GSE21234 111446714 111447391 677 14954
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 111340985 111341662 677 0
CTCF G2GSE9613 111395326 111395689 363 0
CTCF G2GSE9613 111403530 111403663 133 0
ER E2-MCF7GSE14664 111350241 111350280 39 0
ETS1 JurkatGSE17954 111340643 111341926 1283 0
H3ac HepG2E 111342270 111342484 214 0
H3ac HepG2E 111344129 111344606 477 0
Myc hESGSE17917 111341188 111341530 342 0
Oct1 H2O2-HelaGSE14283 111401971 111402002 31 0
Oct1 HelaGSE14283 111345594 111345630 36 0
Oct1 HelaGSE14283 111350246 111350283 37 0
Oct1 HelaGSE14283 111375067 111375101 34 0
Oct1 HelaGSE14283 111401972 111402002 30 0
Oct1 HelaGSE14283 111411570 111411609 39 0
Oct1 HelaGSE14283 111418628 111418683 55 0
Oct4 hESGSE17917 111340768 111341165 397 0
PHF8 293TGSE20725 111340483 111341775 1292 0
PHF8 HeLaGSE20725 111340703 111342108 1405 0
PHF8 Hs68plusFBSGSE20725 111340433 111342397 1964 0
PolII HeLaGSE12783 111340216 111342269 2053 0
RNAII Tamoxifen-MCF7GSE14664 111350246 111350285 39 0
hScc1 BcellGSE12603 111340848 111341044 196 0
hScc1 G2GSE9613 111341044 111341625 581 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-489 hsa-mir-489 7 20700123
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
6632 mRNA PTPN11 chr12 111319255 111410436 107 EST chr12 111307389 111319362Sense/Antisense (SA) 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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