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
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body2 / 7076128
blastocyst3 / 6231948
fetus19 / 56401233
neonate2 / 3109764
infant0 / 236200 
juvenile4 / 5555671
adult141 / 193912172
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor3 / 3436687
chondrosarcoma23 / 82823277
colorectal tumor6 / 11424652
esophageal tumor2 / 17290115
gastrointestinal tumor10 / 11936983
germ cell tumor11 / 26384541
glioma3 / 10688328
head and neck tumor6 / 13630244
kidney tumor5 / 6895972
leukemia3 / 9584231
liver tumor8 / 9635983
lung tumor3 / 10312729
lymphoma4 / 7175555
non-neoplasia7 / 9725071
normal216 / 336030764
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer8 / 10268077
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland9 / 33197271
ascites1 / 4001524
bladder3 / 29757100
blood3 / 12347824
bone9 / 71655125
bone marrow1 / 4880120
brain94 / 110098985
cervix3 / 4817162
connective tissue8 / 14925553
ear1 / 1621261
embryonic tissue8 / 21572237
esophagus2 / 2020998
eye16 / 21105475
heart0 / 896260 
intestine9 / 23447238
kidney15 / 21177770
larynx1 / 2414541
liver11 / 20774352
lung19 / 33697456
lymph0 / 442700 
lymph node0 / 916100 
mammary gland17 / 153271110
mouth3 / 6705244
muscle3 / 10771527
nerve0 / 157680 
ovary3 / 10205129
pancreas4 / 21481218
parathyroid2 / 2053997
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta21 / 28082574
prostate12 / 18934563
salivary gland0 / 201550 
skin5 / 21057423
spleen3 / 5395255
stomach10 / 96619103
testis21 / 33044263
thymus3 / 8113136
thyroid3 / 4747363
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus12 / 23287851
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202679_at
Cell line Expression level Expression bar
721_B_lymphoblasts86.1
Adipocyte21.6
AdrenalCortex354.15
Adrenalgland152.45
Amygdala32.85
Appendix9.6
AtrioventricularNode9.15
BDCA4+_DentriticCells528.35
Bonemarrow7.45
BronchialEpithelialCells121.35
CD105+_Endothelial6.85
CD14+_Monocytes13.05
CD19+_BCells(neg._sel.)9.45
CD33+_Myeloid11.6
CD34+12.7
CD4+_Tcells18.45
CD56+_NKCells85.45
CD71+_EarlyErythroid5.85
CD8+_Tcells50.9
CardiacMyocytes11.65
Caudatenucleus38.05
Cerebellum14.75
CerebellumPeduncles10.75
CiliaryGanglion12.45
CingulateCortex16.8
Colorectaladenocarcinoma73.5
DorsalRootGanglion6.2
FetalThyroid9.15
Fetalbrain7.8
Fetalliver8.6
Fetallung39.3
GlobusPallidus8.15
Heart6.9
Hypothalamus139.25
Kidney5.9
Leukemia_chronicMyelogenousK-56233.45
Leukemia_promyelocytic-HL-605.45
Leukemialymphoblastic(MOLT-4)5.35
Liver9.75
Lung50.35
Lymphnode20.3
Lymphoma_burkitts(Daudi)10.8
Lymphoma_burkitts(Raji)11.35
MedullaOblongata35.35
OccipitalLobe42
OlfactoryBulb68.2
Ovary5.1
Pancreas5.75
PancreaticIslet10.85
ParietalLobe58.5
Pituitary11.6
Placenta142.8
Pons11.5
PrefrontalCortex44.6
Prostate11.2
Salivarygland31
SkeletalMuscle8.85
Skin9.25
SmoothMuscle26.2
Spinalcord105.45
SubthalamicNucleus10.1
SuperiorCervicalGanglion9
TemporalLobe5.9
Testis16.8
TestisGermCell12.35
TestisIntersitial7.65
TestisLeydigCell8.2
TestisSeminiferousTubule17.85
Thalamus32.85
Thymus18.65
Thyroid8.3
Tongue9.35
Tonsil10.2
Trachea7.25
TrigeminalGanglion20.95
Uterus13.8
UterusCorpus63.5
WholeBlood13.15
Wholebrain41.6
colon5.85
pineal_day25.98
pineal_night18.28
retina103.775
small_intestine6.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_125_PI417507815
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala5.25 ± 0.58
Basal Forebrain5.93 ± 0.53
Basal Part of Pons5.94 ± 0.57
Cerebellar Cortex5.58 ± 0.3
Cerebellar Nuclei6.67 ± 0.44
Claustrum5.34 ± 0.61
Epithalamus6.02 ± 0.5
Frontal Lobe5.83 ± 0.66
Globus Pallidus7 ± 0.35
Hypothalamus5.42 ± 0.33
Insula5.43 ± 0.43
Limbic Lobe5.41 ± 0.51
Mesencephalon5.82 ± 0.63
Myelencephalon5.84 ± 0.58
Occipital Lobe5.76 ± 0.57
Parietal Lobe5.64 ± 0.6
Pontine Tegmentum5.91 ± 0.47
Striatum6.1 ± 0.48
Subthalamus6.34 ± 0.21
Temporal Lobe5.57 ± 0.51
Thalamus6.21 ± 0.49
White Matter8.21 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Npc1CBCerebellum15.34
14.37
Npc1CTXCerebral cortex21.09
14.13
Npc1HIPHippocampal region15.36
13.29
Npc1HPFHippocampal formation17.76
14.01
Npc1HYHypothalamus29.73
20.7
Npc1LSXLateral septal complex21.01
13.68
Npc1MBMidbrain34.63
26.54
Npc1MYMedulla46.74
39.5
Npc1OLFOlfactory bulb34.22
24.35
Npc1PPons41.36
34.09
Npc1PALPallidum35.2
27.56
Npc1RHPRetrohippocampal region21.62
14.94
Npc1sAMYStriatum-like amygdalar nuclei10.01
6.14
Npc1STRStriatum25.25
17.24
Npc1STRdStriatum dorsal region29.27
20.75
Npc1STRvStriatum ventral region21.17
13
Npc1THThalamus33.24
24.58
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009006 14 40 53 YNCEYSGPPKPLPK Peptide Atlas

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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