AutismKB 2.0

Annotation Detail for NMNAT2


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Basic Information Top
Gene Symbol:NMNAT2 ( C1orf15,KIAA0479,MGC2756,PNAT2 )
Gene Full Name: nicotinamide nucleotide adenylyltransferase 2
Band: 1q25.3
Quick LinksEntrez ID:23057; OMIM: 608701; Uniprot ID:NMNA2_HUMAN; ENSEMBL ID: ENSG00000157064; HGNC ID: 16789
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 body1 / 7076114
blastocyst4 / 6231964
fetus46 / 56401281
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult48 / 193912124
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor22 / 26384583
glioma3 / 10688328
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal173 / 336030751
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
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 gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain156 / 1100989141
cervix0 / 481710 
connective tissue2 / 14925513
ear5 / 16212308
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye2 / 2110549
heart2 / 8962622
intestine1 / 2344724
kidney1 / 2117774
larynx0 / 241450 
liver4 / 20774319
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta4 / 28082514
prostate0 / 1893450 
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis16 / 33044248
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209755_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.85
Adipocyte4.05
AdrenalCortex4.2
Adrenalgland3.4
Amygdala282.05
Appendix4.4
AtrioventricularNode3.35
BDCA4+_DentriticCells4.3
Bonemarrow4.1
BronchialEpithelialCells3.85
CD105+_Endothelial4.05
CD14+_Monocytes4.3
CD19+_BCells(neg._sel.)4.4
CD33+_Myeloid5.15
CD34+4.9
CD4+_Tcells4.3
CD56+_NKCells4.8
CD71+_EarlyErythroid3.7
CD8+_Tcells3.9
CardiacMyocytes5.35
Caudatenucleus240.25
Cerebellum346.5
CerebellumPeduncles452.6
CiliaryGanglion7.3
CingulateCortex217.65
Colorectaladenocarcinoma4.3
DorsalRootGanglion5.05
FetalThyroid4.1
Fetalbrain479.65
Fetalliver3.5
Fetallung3.45
GlobusPallidus204.95
Heart6.4
Hypothalamus241.45
Kidney3.3
Leukemia_chronicMyelogenousK-5623.6
Leukemia_promyelocytic-HL-603.6
Leukemialymphoblastic(MOLT-4)3.3
Liver5.3
Lung4.7
Lymphnode7.05
Lymphoma_burkitts(Daudi)5.4
Lymphoma_burkitts(Raji)5.7
MedullaOblongata204.05
OccipitalLobe388.4
OlfactoryBulb3.5
Ovary2.9
Pancreas3.35
PancreaticIslet22.75
ParietalLobe257.9
Pituitary85.8
Placenta4.5
Pons163.25
PrefrontalCortex524.65
Prostate4.8
Salivarygland3.3
SkeletalMuscle4.95
Skin3.5
SmoothMuscle4.75
Spinalcord9.5
SubthalamicNucleus232.5
SuperiorCervicalGanglion23.5
TemporalLobe144.75
Testis3.95
TestisGermCell7.75
TestisIntersitial3.6
TestisLeydigCell4.15
TestisSeminiferousTubule4.3
Thalamus195.3
Thymus3.4
Thyroid5.9
Tongue5.25
Tonsil3.95
Trachea3.45
TrigeminalGanglion4.45
Uterus3.45
UterusCorpus5.05
WholeBlood4.5
Wholebrain267.4
colon4.25
pineal_day7.04
pineal_night14.04
retina5.2
small_intestine4.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P345183
  • 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
Amygdala9.93 ± 0.54
Basal Forebrain9.89 ± 0.25
Basal Part of Pons10.19 ± 0.29
Cerebellar Cortex10.46 ± 0.08
Cerebellar Nuclei9.71 ± 0.57
Claustrum10.13 ± 0.21
Epithalamus9.56 ± 0.58
Frontal Lobe10.16 ± 0.42
Globus Pallidus8.39 ± 0.59
Hypothalamus10.36 ± 0.3
Insula10.26 ± 0.14
Limbic Lobe10.23 ± 0.49
Mesencephalon9.98 ± 0.71
Myelencephalon9.94 ± 0.62
Occipital Lobe9.82 ± 0.64
Parietal Lobe10.26 ± 0.39
Pontine Tegmentum10.05 ± 0.54
Striatum9.49 ± 0.52
Subthalamus10.36 ± 0.24
Temporal Lobe10.28 ± 0.33
Thalamus9.83 ± 0.45
White Matter7.84 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nmnat2CBCerebellum100
100
Nmnat2CTXCerebral cortex100
100
Nmnat2HIPHippocampal region100
100
Nmnat2HPFHippocampal formation100
100
Nmnat2HYHypothalamus100
100
Nmnat2LSXLateral septal complex100
100
Nmnat2MBMidbrain100
100
Nmnat2MYMedulla100
100
Nmnat2OLFOlfactory bulb100
100
Nmnat2PPons100
100
Nmnat2PALPallidum100
100
Nmnat2RHPRetrohippocampal region100
100
Nmnat2sAMYStriatum-like amygdalar nuclei100
100
Nmnat2STRStriatum100
96.79
Nmnat2STRdStriatum dorsal region100
89.78
Nmnat2STRvStriatum ventral region100
89.06
Nmnat2THThalamus100
100
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