AutismKB 2.0

Annotation Detail for NPAS2


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Basic Information Top
Gene Symbol:NPAS2 ( FLJ23138,MGC71151,MOP4,PASD4,bHLHe9 )
Gene Full Name: neuronal PAS domain protein 2
Band: 2q11.2
Quick LinksEntrez ID:4862; OMIM: 603347; Uniprot ID:NPAS2_HUMAN; ENSEMBL ID: ENSG00000170485; HGNC ID: 7895
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 body4 / 7076156
blastocyst1 / 6231916
fetus25 / 56401244
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult72 / 193912137
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor10 / 11424687
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor12 / 103127116
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal109 / 336030732
ovarian tumor5 / 7668265
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor14 / 124949112
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor6 / 9025766
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal5 / 33603071
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone4 / 7165555
bone marrow0 / 488010 
brain21 / 110098919
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye7 / 21105433
heart2 / 8962622
intestine16 / 23447268
kidney12 / 21177756
larynx1 / 2414541
liver4 / 20774319
lung29 / 33697486
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth1 / 6705214
muscle3 / 10771527
nerve0 / 157680 
ovary5 / 10205148
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta9 / 28082532
prostate6 / 18934531
salivary gland0 / 201550 
skin15 / 21057471
spleen0 / 539520 
stomach1 / 9661910
testis8 / 33044224
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus6 / 23287825
vascular1 / 5178019
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205460_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.55
Adipocyte5.65
AdrenalCortex6.2
Adrenalgland5
Amygdala5.85
Appendix5.9
AtrioventricularNode4.55
BDCA4+_DentriticCells5.9
Bonemarrow5.75
BronchialEpithelialCells5.7
CD105+_Endothelial5.85
CD14+_Monocytes6.1
CD19+_BCells(neg._sel.)6.1
CD33+_Myeloid7.35
CD34+7.3
CD4+_Tcells6.3
CD56+_NKCells6.95
CD71+_EarlyErythroid5.4
CD8+_Tcells5.55
CardiacMyocytes7.65
Caudatenucleus5.2
Cerebellum4.65
CerebellumPeduncles6.75
CiliaryGanglion4.15
CingulateCortex8.65
Colorectaladenocarcinoma5.7
DorsalRootGanglion4.85
FetalThyroid5.6
Fetalbrain5.75
Fetalliver5
Fetallung4.4
GlobusPallidus4.4
Heart7.5
Hypothalamus6.15
Kidney4.8
Leukemia_chronicMyelogenousK-5625.2
Leukemia_promyelocytic-HL-605.05
Leukemialymphoblastic(MOLT-4)4.6
Liver7.55
Lung6.2
Lymphnode4.95
Lymphoma_burkitts(Daudi)7.3
Lymphoma_burkitts(Raji)8.15
MedullaOblongata5.8
OccipitalLobe5.3
OlfactoryBulb4.5
Ovary3.9
Pancreas4.65
PancreaticIslet6.15
ParietalLobe6.15
Pituitary6.7
Placenta6
Pons5.5
PrefrontalCortex7.15
Prostate6.65
Salivarygland4.6
SkeletalMuscle6.95
Skin4.55
SmoothMuscle7.2
Spinalcord6.1
SubthalamicNucleus5.35
SuperiorCervicalGanglion6.55
TemporalLobe5.25
Testis4.85
TestisGermCell4.8
TestisIntersitial4.85
TestisLeydigCell5.75
TestisSeminiferousTubule4.9
Thalamus5.85
Thymus4.45
Thyroid6.85
Tongue5.7
Tonsil5.6
Trachea4.8
TrigeminalGanglion5.85
Uterus4.6
UterusCorpus5.15
WholeBlood6.2
Wholebrain4.75
colon5.75
pineal_day7.16
pineal_night7.06
retina6.9
small_intestine5.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P415984
  • 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
Amygdala5.66 ± 0.73
Basal Forebrain5.08 ± 0.42
Basal Part of Pons4.44 ± 0.45
Cerebellar Cortex4.34 ± 0.41
Cerebellar Nuclei4.18 ± 0.61
Claustrum6.39 ± 0.68
Epithalamus4.24 ± 0.5
Frontal Lobe4.65 ± 0.66
Globus Pallidus4.46 ± 0.61
Hypothalamus4.01 ± 0.91
Insula4.6 ± 0.74
Limbic Lobe5.09 ± 0.67
Mesencephalon4.72 ± 0.83
Myelencephalon4.94 ± 0.77
Occipital Lobe5.27 ± 0.75
Parietal Lobe4.99 ± 0.76
Pontine Tegmentum4.86 ± 0.77
Striatum6.02 ± 0.54
Subthalamus3.55 ± 0.91
Temporal Lobe4.9 ± 0.57
Thalamus5.09 ± 0.56
White Matter3.36 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Npas2CBCerebellum6.41
10.71
Npas2CTXCerebral cortex52.76
41.13
Npas2HIPHippocampal region12.55
14.8
Npas2HPFHippocampal formation26.44
27.53
Npas2HYHypothalamus1.94
1.54
Npas2LSXLateral septal complex28.76
22.25
Npas2MBMidbrain2.97
3.28
Npas2MYMedulla2.18
3.12
Npas2OLFOlfactory bulb16.54
13.01
Npas2PPons1.9
2.19
Npas2PALPallidum7.35
6.27
Npas2RHPRetrohippocampal region50.09
45.54
Npas2sAMYStriatum-like amygdalar nuclei13.31
10.56
Npas2STRStriatum62.59
48.25
Npas2STRdStriatum dorsal region73.85
56.95
Npas2STRvStriatum ventral region72.12
54.39
Npas2THThalamus12.22
9.56
Peptide Top

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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