AutismKB 2.0

Annotation Detail for BPNT1


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Basic Information Top
Gene Symbol:BPNT1 ( PIP )
Gene Full Name: 3'(2'), 5'-bisphosphate nucleotidase 1
Band: 1q41
Quick LinksEntrez ID:10380; OMIM: 604053; Uniprot ID:BPNT1_HUMAN; ENSEMBL ID: ENSG00000162813; HGNC ID: 1096
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N-acetylalanine.
Location(AA) Modifications Resource
2N-acetylalanine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
57Phosphoserine(IKK)HMM predict
79Phosphoserine(CK1)HMM predict
132N-linkedHMM predict
155SulfotyrosineHMM predict
157SulfotyrosineHMM predict
234Phosphoserine(PKG)HMM predict
287Phosphothreonine(PKC)HMM predict
305AlanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006085
  • Location:chr1 218297448-218329813
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
P300 T0-glioblastomaGSE21026 218329512 218330292 780 89
USF1 HepG2E 218329484 218330227 743 42
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me2 HCT116GSE10453 218329287 218330172 885 0
H3K4me3 colorectalcancer 218329287 218329913 626 0
H3ac HepG2E 218329287 218330227 940 0
PHF8 293TGSE20725 218329372 218330198 826 0
PHF8 Hs68plusFBSGSE20725 218329243 218330220 977 0
TAF k562GSE8489 218329287 218330227 940 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-122 hsa-mir-122 18 18776238
hsa-miR-122 hsa-mir-122 18 18776238
hsa-miR-122* hsa-mir-122 18 18776238
hsa-miR-122* hsa-mir-122 18 18776238
No data
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