AutismKB 2.0

Annotation Detail for NIPA1


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Basic Information Top
Gene Symbol:NIPA1 ( FSP3,MGC102724,MGC35570,SPG6 )
Gene Full Name: non imprinted in Prader-Willi/Angelman syndrome 1
Band: 15q11.2
Quick LinksEntrez ID:123606; OMIM: 608145; Uniprot ID:NIPA1_HUMAN; ENSEMBL ID: ENSG00000170113; HGNC ID: 17043
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
22Phosphoserine(CDC2)HMM predict
22PhosphoserineHMM predict
22O-linkedHMM predict
22Phosphoserine(CDK)HMM predict
24PhosphoserineHMM predict
24O-linkedHMM predict
24Phosphoserine(PKB)HMM predict
24Phosphoserine(IKK)HMM predict
24Phosphoserine(CDC2)HMM predict
42N-linkedHMM predict
61Phosphothreonine(PKA)HMM predict
92O-linkedHMM predict
126S-palmitoylHMM predict
145Phosphoserine(CK1)HMM predict
145Phosphoserine(IKK)HMM predict
220N-linkedHMM predict
322N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_144599
  • Location:chr15 20594721-20637876
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 20648406 20648449 43 10551
Fos K562GSE19551 20648090 20648638 548 10488
Myc K562GSE19551 20648181 20648488 307 10458
PHF8 293TGSE20725 20637572 20638592 1020 206
PHF8 Hs68plusFBSGSE20725 20637575 20638626 1051 224
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 20612615 20612938 323 0
CTCF G2GSE9613 20600549 20600981 432 0
CTCF G2GSE9613 20637066 20637750 684 0
NFkBII GM12878GSE19485 20626929 20628469 1540 0
Nanog ESGSE20650 20597012 20597501 489 0
Nanog hESGSE18292 20597087 20597459 372 0
Oct4 hESGSE21916 20596808 20597501 693 0
Sox2 hESGSE18292 20597136 20597433 297 0
hScc1 BcellGSE12603 20632164 20632373 209 0
hScc1 BcellGSE12603 20636933 20637750 817 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


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