AutismKB 2.0

Annotation Detail for NCSTN


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Basic Information Top
Gene Symbol:NCSTN ( APH2,KIAA0253 )
Gene Full Name: nicastrin
Band: 1q23.2
Quick LinksEntrez ID:23385; OMIM: 605254; Uniprot ID:NICA_HUMAN; ENSEMBL ID: ENSG00000162736; HGNC ID: 17091
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 body12 / 70761169
blastocyst8 / 62319128
fetus39 / 56401269
neonate6 / 31097192
infant2 / 2362084
juvenile5 / 5555689
adult281 / 1939121144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor5 / 12794390
bladder carcinoma0 / 174750 
breast (mammary gland) tumor19 / 94178201
cervical tumor3 / 3436687
chondrosarcoma40 / 82823482
colorectal tumor12 / 114246105
esophageal tumor1 / 1729057
gastrointestinal tumor11 / 11936992
germ cell tumor24 / 26384590
glioma14 / 106883130
head and neck tumor43 / 136302315
kidney tumor9 / 68959130
leukemia12 / 95842125
liver tumor7 / 9635972
lung tumor10 / 10312796
lymphoma6 / 7175583
non-neoplasia10 / 97250102
normal358 / 3360307106
ovarian tumor13 / 76682169
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer12 / 102680116
retinoblastoma2 / 4635643
skin tumor15 / 124949120
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor20 / 90257221
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites2 / 4001549
bladder0 / 297570 
blood12 / 12347897
bone10 / 71655139
bone marrow9 / 48801184
brain110 / 110098999
cervix6 / 48171124
connective tissue21 / 149255140
ear1 / 1621261
embryonic tissue32 / 215722148
esophagus1 / 2020949
eye26 / 211054123
heart4 / 8962644
intestine24 / 234472102
kidney16 / 21177775
larynx6 / 24145248
liver20 / 20774396
lung59 / 336974175
lymph1 / 4427022
lymph node6 / 9161065
mammary gland24 / 153271156
mouth18 / 67052268
muscle14 / 107715129
nerve1 / 1576863
ovary11 / 102051107
pancreas20 / 21481293
parathyroid4 / 20539194
pharynx6 / 41328145
pituitary gland0 / 165850 
placenta34 / 280825121
prostate21 / 189345110
salivary gland0 / 201550 
skin33 / 210574156
spleen3 / 5395255
stomach12 / 96619124
testis71 / 330442214
thymus8 / 8113198
thyroid21 / 47473442
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus36 / 232878154
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208759_at
Cell line Expression level Expression bar
721_B_lymphoblasts115.2
Adipocyte134.35
AdrenalCortex77.6
Adrenalgland90.7
Amygdala107.35
Appendix78.1
AtrioventricularNode56.05
BDCA4+_DentriticCells213.95
Bonemarrow95.2
BronchialEpithelialCells79.65
CD105+_Endothelial82.05
CD14+_Monocytes167.25
CD19+_BCells(neg._sel.)103.9
CD33+_Myeloid245.2
CD34+97.35
CD4+_Tcells98.05
CD56+_NKCells130.3
CD71+_EarlyErythroid50.05
CD8+_Tcells86.75
CardiacMyocytes141.2
Caudatenucleus80.2
Cerebellum73.1
CerebellumPeduncles119.15
CiliaryGanglion55.45
CingulateCortex55.5
Colorectaladenocarcinoma81.85
DorsalRootGanglion66.1
FetalThyroid113.9
Fetalbrain66.65
Fetalliver66.4
Fetallung99.15
GlobusPallidus48.9
Heart106.1
Hypothalamus89.8
Kidney81.05
Leukemia_chronicMyelogenousK-56278.35
Leukemia_promyelocytic-HL-6066.3
Leukemialymphoblastic(MOLT-4)49.25
Liver140.65
Lung104.85
Lymphnode96.7
Lymphoma_burkitts(Daudi)72.9
Lymphoma_burkitts(Raji)107.45
MedullaOblongata60.55
OccipitalLobe62.7
OlfactoryBulb106.25
Ovary65.25
Pancreas54.45
PancreaticIslet100.5
ParietalLobe87.1
Pituitary88.8
Placenta421.25
Pons85.2
PrefrontalCortex97.7
Prostate95.05
Salivarygland74.6
SkeletalMuscle93.5
Skin72.35
SmoothMuscle253.75
Spinalcord120.55
SubthalamicNucleus71.7
SuperiorCervicalGanglion79.35
TemporalLobe54.8
Testis70.65
TestisGermCell108.35
TestisIntersitial76.55
TestisLeydigCell95.3
TestisSeminiferousTubule96.85
Thalamus90.2
Thymus86.7
Thyroid182
Tongue62.2
Tonsil86.2
Trachea119.4
TrigeminalGanglion81.25
Uterus77.15
UterusCorpus62.2
WholeBlood191.8
Wholebrain66.5
colon81.6
pineal_day265.78
pineal_night222.68
retina182.55
small_intestine106.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15556_PI416261804
  • 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
Amygdala3.62 ± 0.83
Basal Forebrain3.67 ± 0.41
Basal Part of Pons3.39 ± 0.59
Cerebellar Cortex3.54 ± 0.62
Cerebellar Nuclei3.63 ± 0.67
Claustrum3.78 ± 0.49
Epithalamus3.64 ± 0.54
Frontal Lobe3.7 ± 0.59
Globus Pallidus3.62 ± 0.64
Hypothalamus3.54 ± 0.59
Insula3.45 ± 0.66
Limbic Lobe3.47 ± 0.63
Mesencephalon3.55 ± 0.66
Myelencephalon3.64 ± 0.64
Occipital Lobe3.33 ± 0.67
Parietal Lobe3.45 ± 0.7
Pontine Tegmentum3.58 ± 0.61
Striatum3.58 ± 0.59
Subthalamus3.36 ± 0.74
Temporal Lobe3.56 ± 0.58
Thalamus3.68 ± 0.53
White Matter4.74 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NcstnCBCerebellum6.73
7.92
NcstnCTXCerebral cortex19.54
14.36
NcstnHIPHippocampal region16.54
17.76
NcstnHPFHippocampal formation16.36
15.69
NcstnHYHypothalamus10.14
10.87
NcstnLSXLateral septal complex4.93
3.29
NcstnMBMidbrain4.76
5.57
NcstnMYMedulla7.35
11.19
NcstnOLFOlfactory bulb30.86
24.68
NcstnPPons8.19
12.66
NcstnPALPallidum8.39
7.88
NcstnRHPRetrohippocampal region16.26
12.82
NcstnsAMYStriatum-like amygdalar nuclei13.2
9.61
NcstnSTRStriatum7.47
5.46
NcstnSTRdStriatum dorsal region4.25
3.11
NcstnSTRvStriatum ventral region15.73
11
NcstnTHThalamus9.52
8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NICA_HUMAN_393 22 393 414 QVEDLLATLEKSGAGVPAVILR PRIDE
PAp00384197 12 392 403 NQVEDLLATLEK 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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