AutismKB 2.0

Annotation Detail for NNT


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Basic Information Top
Gene Symbol:NNT ( MGC126502,MGC126503 )
Gene Full Name: nicotinamide nucleotide transhydrogenase
Band: 5p12
Quick LinksEntrez ID:23530; OMIM: 607878; Uniprot ID:NNTM_HUMAN; ENSEMBL ID: ENSG00000112992; HGNC ID: 7863
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 body3 / 7076142
blastocyst1 / 6231916
fetus42 / 56401274
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult85 / 193912143
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) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor11 / 26384541
glioma4 / 10688337
head and neck tumor3 / 13630222
kidney tumor7 / 68959101
leukemia11 / 95842114
liver tumor7 / 9635972
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal188 / 336030755
ovarian tumor1 / 7668213
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor8 / 12494964
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone4 / 7165555
bone marrow9 / 48801184
brain46 / 110098941
cervix1 / 4817120
connective tissue4 / 14925526
ear1 / 1621261
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye7 / 21105433
heart8 / 8962689
intestine18 / 23447276
kidney31 / 211777146
larynx0 / 241450 
liver29 / 207743139
lung10 / 33697429
lymph0 / 442700 
lymph node21 / 91610229
mammary gland11 / 15327171
mouth3 / 6705244
muscle14 / 107715129
nerve0 / 157680 
ovary2 / 10205119
pancreas4 / 21481218
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta7 / 28082524
prostate4 / 18934521
salivary gland2 / 2015599
skin9 / 21057442
spleen0 / 539520 
stomach2 / 9661920
testis14 / 33044242
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202783_at
Cell line Expression level Expression bar
721_B_lymphoblasts58.35
Adipocyte12.05
AdrenalCortex15.05
Adrenalgland12.05
Amygdala22.7
Appendix14.7
AtrioventricularNode11.85
BDCA4+_DentriticCells34.2
Bonemarrow13
BronchialEpithelialCells11.1
CD105+_Endothelial18.75
CD14+_Monocytes16.45
CD19+_BCells(neg._sel.)23.05
CD33+_Myeloid43.4
CD34+44.9
CD4+_Tcells25.5
CD56+_NKCells21.5
CD71+_EarlyErythroid28.95
CD8+_Tcells23.05
CardiacMyocytes18.15
Caudatenucleus10.35
Cerebellum8.85
CerebellumPeduncles14.05
CiliaryGanglion10.9
CingulateCortex13.25
Colorectaladenocarcinoma10.9
DorsalRootGanglion10.35
FetalThyroid10.3
Fetalbrain16.05
Fetalliver17.4
Fetallung7.75
GlobusPallidus12.3
Heart27
Hypothalamus15.95
Kidney14.35
Leukemia_chronicMyelogenousK-56212.9
Leukemia_promyelocytic-HL-6010.8
Leukemialymphoblastic(MOLT-4)26.6
Liver18.8
Lung11.55
Lymphnode9.95
Lymphoma_burkitts(Daudi)14.3
Lymphoma_burkitts(Raji)18.15
MedullaOblongata13.15
OccipitalLobe27.6
OlfactoryBulb8.15
Ovary7.85
Pancreas10.45
PancreaticIslet13.9
ParietalLobe14.5
Pituitary12.65
Placenta9
Pons13.1
PrefrontalCortex37.15
Prostate12.15
Salivarygland12.05
SkeletalMuscle27
Skin10.5
SmoothMuscle12.8
Spinalcord11.3
SubthalamicNucleus12.4
SuperiorCervicalGanglion18.15
TemporalLobe12.55
Testis9.35
TestisGermCell8.45
TestisIntersitial8.1
TestisLeydigCell10.95
TestisSeminiferousTubule8.6
Thalamus13.45
Thymus8.95
Thyroid23.55
Tongue15.75
Tonsil12.55
Trachea9.75
TrigeminalGanglion15.95
Uterus8.65
UterusCorpus11.85
WholeBlood20.75
Wholebrain10.7
colon60.1
pineal_day18.66
pineal_night25.5
retina14.375
small_intestine37.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7934_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
Amygdala8.64 ± 0.33
Basal Forebrain8.51 ± 0.22
Basal Part of Pons8.59 ± 0.32
Cerebellar Cortex8.29 ± 0.24
Cerebellar Nuclei8.55 ± 0.28
Claustrum8.66 ± 0.22
Epithalamus8.22 ± 0.29
Frontal Lobe8.65 ± 0.35
Globus Pallidus8.42 ± 0.41
Hypothalamus8.46 ± 0.3
Insula8.59 ± 0.32
Limbic Lobe8.64 ± 0.38
Mesencephalon8.56 ± 0.29
Myelencephalon8.5 ± 0.32
Occipital Lobe8.54 ± 0.36
Parietal Lobe8.75 ± 0.34
Pontine Tegmentum8.59 ± 0.38
Striatum8.33 ± 0.44
Subthalamus8.71 ± 0.34
Temporal Lobe8.72 ± 0.27
Thalamus8.65 ± 0.32
White Matter8.02 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NntCBCerebellum5.08
6.85
NntCTXCerebral cortex8.34
6.74
NntHIPHippocampal region12.5
13.56
NntHPFHippocampal formation10.59
10.44
NntHYHypothalamus1.34
1.6
NntLSXLateral septal complex0.32
0.28
NntMBMidbrain1.57
2.41
NntMYMedulla2.98
3.83
NntOLFOlfactory bulb7.92
7.94
NntPPons2.1
2.69
NntPALPallidum0.27
0.29
NntRHPRetrohippocampal region6.63
4.95
NntsAMYStriatum-like amygdalar nuclei2.91
2.71
NntSTRStriatum1.93
1.73
NntSTRdStriatum dorsal region1.67
1.64
NntSTRvStriatum ventral region1.82
1.25
NntTHThalamus3.3
3.13
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NNTM_HUMAN_1037 6 1037 1042 QVIVMK PRIDE
NNTM_HUMAN_117 10 117 126 EVLASDLVVK PRIDE
NNTM_HUMAN_118 10 118 127 EVLASDLVVK PRIDE
NNTM_HUMAN_129 17 129 145 APMVNPTLGVHEADLLK PRIDE
NNTM_HUMAN_147 20 147 166 TSGTLISFIYPAQNPELLNK PRIDE
NNTM_HUMAN_182 20 182 201 VTIAQGYDALSSMANIAGYK PRIDE
NNTM_HUMAN_203 11 203 213 AVVLAANHFGR PRIDE
NNTM_HUMAN_268 12 268 279 SLGAEPLEVDLK PRIDE
NNTM_HUMAN_310 14 310 323 EVDILISTALIPGK PRIDE
NNTM_HUMAN_367 13 367 379 GITHIGYTDLPSR PRIDE
NNTM_HUMAN_379 15 379 393 MATQASTLYSNNITK PRIDE
NNTM_HUMAN_380 15 380 394 MATQASTLYSNNITK PRIDE
NNTM_HUMAN_412 13 412 424 DDFDFGTMGHVIR PRIDE
NNTM_HUMAN_425 9 425 433 GTVVMKDGK PRIDE
NNTM_HUMAN_454 9 454 462 TVAELEAEK PRIDE
NNTM_HUMAN_72 13 72 84 VALSPAGVQNLVK PRIDE
NNTM_HUMAN_923 17 923 939 EANSIIITPGYGLCAAK PRIDE
NNTM_HUMAN_940 10 940 949 AQYPIADLVK PRIDE
PAp00001554 13 412 424 DDFDFGTMGHVIR 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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