AutismKB 2.0

Annotation Detail for NPC1L1


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Basic Information Top
Gene Symbol:NPC1L1 ( NPC11L1 )
Gene Full Name: NPC1 (Niemann-Pick disease, type C1, gene)-like 1
Band: 7p13
Quick LinksEntrez ID:29881; OMIM: 608010; Uniprot ID:NPCL1_HUMAN; ENSEMBL ID: ENSG00000015520; HGNC ID: 7898
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
54N-linked (GlcNAc...) (Potential).
132N-linked (GlcNAc...) (Potential).
138N-linked (GlcNAc...) (Potential).
244N-linked (GlcNAc...) (Potential).
416N-linked (GlcNAc...) (Potential).
431N-linked (GlcNAc...) (Potential).
464N-linked (GlcNAc...) (Potential).
479N-linked (GlcNAc...) (Potential).
497N-linked (GlcNAc...) (Potential).
506N-linked (GlcNAc...) (Potential).
626N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
54N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
132N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
138N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
244N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
416N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
431N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
464N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
479N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
497N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
506N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
626N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
24Phosphotyrosine(Abl)HMM predict
54N-linkedHMM predict
60N-linkedHMM predict
67Phosphothreonine(PKA)HMM predict
82Phosphotyrosine(Abl)HMM predict
130Phosphoserine(ATM)HMM predict
132N-linkedHMM predict
138N-linkedHMM predict
171Phosphoserine(CDK)HMM predict
244N-linkedHMM predict
246Phosphoserine(CK2)HMM predict
277Phosphotyrosine(Syk)HMM predict
323Phosphothreonine(PKA)HMM predict
388Phosphoserine(IKK)HMM predict
416N-linkedHMM predict
431N-linkedHMM predict
479N-linkedHMM predict
497N-linkedHMM predict
506N-linkedHMM predict
564Phosphotyrosine(INSR)HMM predict
564Phosphotyrosine(Jak)HMM predict
626N-linkedHMM predict
656Phosphoserine(CDK)HMM predict
796Phosphoserine(MAPK)HMM predict
812S-palmitoylHMM predict
909N-linkedHMM predict
945Phosphotyrosine(Syk)HMM predict
1037N-linkedHMM predict
1052Phosphoserine(MAPK)HMM predict
1089Phosphotyrosine(EGFR)HMM predict
1102N-linkedHMM predict
1335N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_013389
  • Location:chr7 44518660-44547438
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 44548414 44548664 250 1101
ER E2-MCF7GSE14664 44555291 44555335 44 7875
ER Fulvestrant-MCF7GSE14664 44555288 44555329 41 7870
FOXA1 MCF7GSE15244 44549927 44550394 467 2722
H3ac HepG2E 44548639 44549274 635 1518
Oct1 H2O2-HelaGSE14283 44547810 44547858 48 396
Oct1 H2O2-HelaGSE14283 44552316 44552345 29 4892
Oct1 H2O2-HelaGSE14283 44555288 44555329 41 7870
Oct1 HelaGSE14283 44547809 44547856 47 394
Oct1 HelaGSE14283 44552310 44552351 41 4892
Oct1 HelaGSE14283 44555288 44555333 45 7872
TFAP2C MCF7GSE21234 44550231 44550547 316 2951
hScc1 BcellGSE12603 44547442 44547825 383 195
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 44517769 44517802 33 875
Oct1 HelaGSE14283 44517758 44517796 38 884
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 44540792 44541034 242 0
CTCF CD4SISSRdata 44540792 44541034 242 0
CTCF G2GSE9613 44521665 44522209 544 0
CTCF G2GSE9613 44522752 44523017 265 0
CTCF G2GSE9613 44525405 44525696 291 0
CTCF G2GSE9613 44537353 44538136 783 0
CTCF G2GSE9613 44539454 44540815 1361 0
CTCF G2GSE9613 44542036 44542304 268 0
CTCF G2GSE9613 44542891 44543043 152 0
CTCF G2GSE9613 44544048 44545064 1016 0
CTCF G2GSE9613 44545526 44546059 533 0
CTCF G2GSE9613 44546350 44547897 1547 0
ER Fulvestrant-MCF7GSE14664 44534408 44534454 46 0
FOXA1 MCF7GSE15244 44539918 44541032 1114 0
Oct1 H2O2-HelaGSE14283 44524380 44524420 40 0
Oct1 HelaGSE14283 44524381 44524420 39 0
Oct1 HelaGSE14283 44534497 44534574 77 0
hScc1 BcellGSE12603 44540583 44540815 232 0
hScc1 CdLSGSE12603 44540516 44540960 444 0
hScc1 G2GSE9613 44544254 44544962 708 0
hScc1 G2GSE9613 44546492 44546897 405 0
Validated miRNA targets Top
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
23937 EST chr7 44349545 44350611 89 mRNA NPC1L1 chr7 44325376 44354154Sense/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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