AutismKB 2.0

Annotation Detail for NPC1


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Basic Information Top
Gene Symbol:NPC1 ( FLJ98532,NPC )
Gene Full Name: Niemann-Pick disease, type C1
Band: 18q11.2
Quick LinksEntrez ID:4864; OMIM: 607623; Uniprot ID:NPC1_HUMAN; ENSEMBL ID: ENSG00000141458; HGNC ID: 7897
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
70N-linked (GlcNAc...) (Potential).
122N-linked (GlcNAc...) (Potential).
135N-linked (GlcNAc...).
185N-linked (GlcNAc...) (Potential).
222N-linked (GlcNAc...) (Potential).
452N-linked (GlcNAc...) (Potential).
459N-linked (GlcNAc...) (Potential).
478N-linked (GlcNAc...) (Potential).
524N-linked (GlcNAc...).
916N-linked (GlcNAc...) (Potential).
1064N-linked (GlcNAc...) (Potential).
1278Di-leucine motif.
Location(AA) Modifications Resource
70N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
122N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
135N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
185N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
222N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
452N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
459N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
478N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
524N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
916N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
40Phosphotyrosine(INSR)HMM predict
44Phosphotyrosine(Syk)HMM predict
44Phosphotyrosine(Jak)HMM predict
56Phosphotyrosine(Syk)HMM predict
70N-linkedHMM predict
114Phosphoserine(ATM)HMM predict
122N-linkedHMM predict
129SulfotyrosineHMM predict
135N-linkedHMM predict
140N-linkedHMM predict
185N-linkedHMM predict
188N-linkedHMM predict
222N-linkedHMM predict
314N-linkedHMM predict
322Phosphoserine(IKK)HMM predict
386Phosphoserine(ATM)HMM predict
420Phosphotyrosine(Syk)HMM predict
452N-linkedHMM predict
459N-linkedHMM predict
478N-linkedHMM predict
493Phosphoserine(CK1)HMM predict
493Phosphoserine(ATM)HMM predict
522Phosphoserine(IKK)HMM predict
524N-linkedHMM predict
555Phosphotyrosine(Syk)HMM predict
555Phosphotyrosine(EGFR)HMM predict
557N-linkedHMM predict
571Phosphotyrosine(Syk)HMM predict
571Phosphotyrosine(EGFR)HMM predict
572N-linkedHMM predict
598N-linkedHMM predict
608Phosphoserine(CK2)HMM predict
741Phosphoserine(CK1)HMM predict
871SulfotyrosineHMM predict
871Phosphotyrosine(Syk)HMM predict
880Phosphoserine(ATM)HMM predict
899Phosphotyrosine(Jak)HMM predict
899Phosphotyrosine(INSR)HMM predict
901Phosphoserine(CK1)HMM predict
931N-linkedHMM predict
946SulfotyrosineHMM predict
961N-linkedHMM predict
968N-linkedHMM predict
983Phosphothreonine(CDK)HMM predict
1064N-linkedHMM predict
1072N-linkedHMM predict
1076Phosphotyrosine(EGFR)HMM predict
1270Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000271
  • Location:chr18 19365462-19420425
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 19420892 19421153 261 597
CTCF CD4SISSRdata 19420892 19421153 261 597
CTCF JurkatGSE12889 19420951 19421189 238 645
CTCF G2GSE9613 19420157 19421589 1432 448
TFAP2C MCF7GSE21234 19420526 19421117 591 396
hScc1 BcellGSE12603 19419791 19421589 1798 265
hScc1 CdLSGSE12603 19420241 19421300 1059 345
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER E2-MCF7GSE14664 19382803 19382837 34 0
H3K4me2 HCT116GSE10453 19419791 19420086 295 0
H3K4me3 colorectalcancer 19419791 19420120 329 0
H3ac HepG2E 19417104 19418522 1418 0
H3ac HepG2E 19419297 19420157 860 0
P300 T30-glioblastomaGSE21026 19414745 19415675 930 0
PHF8 HeLaGSE20725 19419739 19421050 1311 0
TFAP2C MCF7GSE21234 19373960 19374327 367 0
TFAP2C MCF7GSE21234 19419276 19419604 328 0
hScc1 BcellGSE12603 19375129 19375300 171 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 21373758
hsa-let-7a hsa-let-7a-2 11 21373758
hsa-let-7a hsa-let-7a-3 22 21373758
hsa-let-7a hsa-let-7a-1 9 20440510
hsa-let-7a hsa-let-7a-2 11 20440510
hsa-let-7a hsa-let-7a-3 22 20440510
hsa-let-7a* hsa-let-7a-1 9 21373758
hsa-let-7a* hsa-let-7a-3 22 21373758
hsa-let-7a* hsa-let-7a-1 9 20440510
hsa-let-7a* hsa-let-7a-3 22 20440510
hsa-let-7b hsa-let-7b 22 21373758
hsa-let-7b hsa-let-7b 22 20440510
hsa-let-7b* hsa-let-7b 22 21373758
hsa-let-7b* hsa-let-7b 22 20440510
hsa-let-7c hsa-let-7c 21 21373758
hsa-let-7c hsa-let-7c 21 20440510
hsa-let-7c* hsa-let-7c 21 21373758
hsa-let-7c* hsa-let-7c 21 20440510
hsa-let-7d hsa-let-7d 9 21373758
hsa-let-7d hsa-let-7d 9 20440510
hsa-let-7d* hsa-let-7d 9 21373758
hsa-let-7d* hsa-let-7d 9 20440510
hsa-let-7e hsa-let-7e 19 21373758
hsa-let-7e hsa-let-7e 19 20440510
hsa-let-7e* hsa-let-7e 19 21373758
hsa-let-7e* hsa-let-7e 19 20440510
hsa-let-7f hsa-let-7f-1 9 21373758
hsa-let-7f hsa-let-7f-2 X 21373758
hsa-let-7f hsa-let-7f-1 9 20440510
hsa-let-7f hsa-let-7f-2 X 20440510
hsa-let-7f-1* hsa-let-7f-1 9 21373758
hsa-let-7f-1* hsa-let-7f-1 9 20440510
hsa-let-7f-2* hsa-let-7f-2 X 21373758
hsa-let-7f-2* hsa-let-7f-2 X 20440510
hsa-let-7g hsa-let-7g 3 21373758
hsa-let-7g hsa-let-7g 3 20440510
hsa-let-7g* hsa-let-7g 3 21373758
hsa-let-7g* hsa-let-7g 3 20440510
hsa-let-7i hsa-let-7i 12 21373758
hsa-let-7i hsa-let-7i 12 20440510
hsa-let-7i* hsa-let-7i 12 21373758
hsa-let-7i* hsa-let-7i 12 20440510
hsa-miR-100 hsa-mir-100 11 19739117
hsa-miR-100* hsa-mir-100 11 19739117
hsa-miR-101 hsa-mir-101-1 1 21368858
hsa-miR-101 hsa-mir-101-2 9 21368858
hsa-miR-103 hsa-mir-103-2 20 19144710
hsa-miR-10b hsa-mir-10b 2 20732742
hsa-miR-10b* hsa-mir-10b 2 20732742
hsa-miR-1301 hsa-mir-1301 2 19144710
hsa-miR-1307 hsa-mir-1307 10 19144710
hsa-miR-135b hsa-mir-135b 1 20406893
hsa-miR-135b* hsa-mir-135b 1 20406893
hsa-miR-141 hsa-mir-141 12 20406893
hsa-miR-141 hsa-mir-141 12 20053927
hsa-miR-141* hsa-mir-141 12 20406893
hsa-miR-141* hsa-mir-141 12 20053927
hsa-miR-143 hsa-mir-143 5 21075073
hsa-miR-143 hsa-mir-143 5 19293812
hsa-miR-143* hsa-mir-143 5 21075073
hsa-miR-143* hsa-mir-143 5 19293812
hsa-miR-145 hsa-mir-145 5 19293812
hsa-miR-145* hsa-mir-145 5 19293812
hsa-miR-155 hsa-mir-155 21 19293812
hsa-miR-155* hsa-mir-155 21 19293812
hsa-miR-15a hsa-mir-15a 13 19144710
hsa-miR-15a* hsa-mir-15a 13 19144710
hsa-miR-16 hsa-mir-16-1 13 19144710
hsa-miR-16 hsa-mir-16-2 3 19144710
hsa-miR-17 hsa-mir-17 13 20406893
hsa-miR-17 hsa-mir-17 13 19293812
hsa-miR-17* hsa-mir-17 13 20406893
hsa-miR-17* hsa-mir-17 13 19293812
hsa-miR-183 hsa-mir-183 7 20406893
hsa-miR-183* hsa-mir-183 7 20406893
hsa-miR-18a hsa-mir-18a 13 21373758
hsa-miR-18a* hsa-mir-18a 13 21373758
hsa-miR-196a hsa-mir-196a-1 17 21075073
hsa-miR-196a hsa-mir-196a-2 12 21075073
hsa-miR-196b hsa-mir-196b 7 21075073
hsa-miR-196b hsa-mir-196b 7 19144710
hsa-miR-200a hsa-mir-200a 1 19931509
hsa-miR-200a* hsa-mir-200a 1 19931509
hsa-miR-200c hsa-mir-200c 12 20406893
hsa-miR-200c* hsa-mir-200c 12 20406893
hsa-miR-205 hsa-mir-205 1 20406893
hsa-miR-205 hsa-mir-205 1 19144710
hsa-miR-21 hsa-mir-21 17 17908999
hsa-miR-21* hsa-mir-21 17 17908999
hsa-miR-218 hsa-mir-218-1 4 21385904
hsa-miR-218 hsa-mir-218-2 5 21385904
hsa-miR-224 hsa-mir-224 X 19144710
hsa-miR-26a hsa-mir-26a-1 3 21368858
hsa-miR-26a hsa-mir-26a-2 12 21368858
hsa-miR-26a hsa-mir-26a-1 3 21199804
hsa-miR-26a hsa-mir-26a-2 12 21199804
hsa-miR-26a-1* hsa-mir-26a-1 3 21199804
hsa-miR-26a-2* hsa-mir-26a-2 12 21199804
hsa-miR-26b hsa-mir-26b 2 21199804
hsa-miR-26b* hsa-mir-26b 2 21199804
hsa-miR-296-3p hsa-mir-296 20 21075073
hsa-miR-296-5p hsa-mir-296 20 21075073
hsa-miR-29a hsa-mir-29a 7 18390668
hsa-miR-29a* hsa-mir-29a 7 18390668
hsa-miR-29c hsa-mir-29c 1 18390668
hsa-miR-29c* hsa-mir-29c 1 18390668
hsa-miR-301a hsa-mir-301a 17 20406893
hsa-miR-30c hsa-mir-30c-2 6 21373758
hsa-miR-30c hsa-mir-30c-1 1 21373758
hsa-miR-33a hsa-mir-33a 22 20466885
hsa-miR-33a* hsa-mir-33a 22 20466885
hsa-miR-34a hsa-mir-34a 1 19293812
hsa-miR-34a* hsa-mir-34a 1 19293812
hsa-miR-34b hsa-mir-34b 11 21373758
hsa-miR-34b hsa-mir-34b 11 19293812
hsa-miR-34b* hsa-mir-34b 11 21373758
hsa-miR-34b* hsa-mir-34b 11 19293812
hsa-miR-34c-3p hsa-mir-34c 11 21373758
hsa-miR-34c-3p hsa-mir-34c 11 19293812
hsa-miR-34c-5p hsa-mir-34c 11 21373758
hsa-miR-34c-5p hsa-mir-34c 11 19293812
hsa-miR-365 hsa-mir-365-2 17 19144710
hsa-miR-449b hsa-mir-449b 5 19144710
hsa-miR-92a hsa-mir-92a-1 13 19293812
hsa-miR-92a hsa-mir-92a-2 X 19293812
hsa-miR-98 hsa-mir-98 X 21368858
hsa-miR-98 hsa-mir-98 X 21075073
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
12003 mRNA C18orf8 chr18 19337470 19365740 154 mRNA NPC1 chr18 19365461 19420426Sense/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