AutismKB 2.0

Annotation Detail for NIPAL1


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Basic Information Top
Gene Symbol:NIPAL1 ( DKFZp686A06115,NPAL1 )
Gene Full Name: NIPA-like domain containing 1
Band: 4p12
Quick LinksEntrez ID:152519; OMIM: NA; Uniprot ID:NIPA3_HUMAN; ENSEMBL ID: ENSG00000163293; HGNC ID: 27194
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
25N-linked (GlcNAc...) (Potential).
35N-linked (GlcNAc...) (Potential).
50N-linked (GlcNAc...) (Potential).
55N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_207330
  • Location:chr4 47713547-47733834
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 47700473 47700651 178 12986
CTCF CD4SISSRdata 47700473 47700651 178 12986
CTCF G2GSE9613 47712874 47713760 886 231
Nanog hESGSE18292 47708425 47708850 425 4910
PHF8 293TGSE20725 47712967 47714009 1042 60
TFAP2C MCF7GSE21234 47713027 47713616 589 226
hScc1 BcellGSE12603 47712874 47713257 383 482
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 47744329 47745255 926 10958
Oct1 HelaGSE14283 47739632 47739709 77 5836
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47730603 47730956 353 0
H3K4me3 colorectalcancer 47714962 47715251 289 0
PHF8 Hs68plusFBSGSE20725 47713218 47714511 1293 0
TFAP2C MCF7GSE21234 47713660 47714420 760 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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