AutismKB 2.0

Annotation Detail for NDUFS3


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Basic Information Top
Gene Symbol:NDUFS3 ( CI-30 )
Gene Full Name: NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
Band: 11p11.2
Quick LinksEntrez ID:4722; OMIM: 603846; Uniprot ID:NDUS3_HUMAN; ENSEMBL ID: ENSG00000213619; HGNC ID: 7710
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
blastocyst4 / 6231964
fetus44 / 56401278
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult147 / 193912175
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) tumor11 / 94178116
cervical tumor8 / 34366232
chondrosarcoma5 / 8282360
colorectal tumor9 / 11424678
esophageal tumor2 / 17290115
gastrointestinal tumor10 / 11936983
germ cell tumor17 / 26384564
glioma13 / 106883121
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia5 / 9584252
liver tumor3 / 9635931
lung tumor16 / 103127155
lymphoma5 / 7175569
non-neoplasia3 / 9725030
normal235 / 336030769
ovarian tumor11 / 76682143
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer9 / 10268087
retinoblastoma6 / 46356129
skin tumor17 / 124949136
soft tissue/muscle tissue tumor15 / 125191119
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites3 / 4001574
bladder1 / 2975733
blood5 / 12347840
bone6 / 7165583
bone marrow0 / 488010 
brain73 / 110098966
cervix8 / 48171166
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus2 / 2020998
eye24 / 211054113
heart16 / 89626178
intestine21 / 23447289
kidney11 / 21177751
larynx0 / 241450 
liver13 / 20774362
lung35 / 336974103
lymph2 / 4427045
lymph node10 / 91610109
mammary gland13 / 15327184
mouth1 / 6705214
muscle8 / 10771574
nerve0 / 157680 
ovary13 / 102051127
pancreas50 / 214812232
parathyroid9 / 20539438
pharynx3 / 4132872
pituitary gland3 / 16585180
placenta15 / 28082553
prostate13 / 18934568
salivary gland0 / 201550 
skin25 / 210574118
spleen5 / 5395292
stomach12 / 96619124
testis17 / 33044251
thymus1 / 8113112
thyroid3 / 4747363
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord2 / 13680146
uterus15 / 23287864
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201740_at
Cell line Expression level Expression bar
721_B_lymphoblasts648.85
Adipocyte121.7
AdrenalCortex65.8
Adrenalgland157.9
Amygdala206.8
Appendix15.2
AtrioventricularNode18.95
BDCA4+_DentriticCells426.95
Bonemarrow54.95
BronchialEpithelialCells210.15
CD105+_Endothelial302
CD14+_Monocytes205.35
CD19+_BCells(neg._sel.)156.9
CD33+_Myeloid196.15
CD34+525.8
CD4+_Tcells155.3
CD56+_NKCells279.65
CD71+_EarlyErythroid109.2
CD8+_Tcells130.4
CardiacMyocytes101.8
Caudatenucleus214.15
Cerebellum142.4
CerebellumPeduncles159.2
CiliaryGanglion19.05
CingulateCortex189.2
Colorectaladenocarcinoma178.5
DorsalRootGanglion22.15
FetalThyroid108.25
Fetalbrain85.05
Fetalliver88
Fetallung84.95
GlobusPallidus84.7
Heart1134.45
Hypothalamus291.25
Kidney188.9
Leukemia_chronicMyelogenousK-562143.7
Leukemia_promyelocytic-HL-60216.3
Leukemialymphoblastic(MOLT-4)163.3
Liver349.05
Lung323.05
Lymphnode46.65
Lymphoma_burkitts(Daudi)240.65
Lymphoma_burkitts(Raji)242.7
MedullaOblongata192.1
OccipitalLobe167.15
OlfactoryBulb62.25
Ovary20.3
Pancreas58.8
PancreaticIslet98.5
ParietalLobe119.45
Pituitary137.5
Placenta52.3
Pons111.15
PrefrontalCortex218.8
Prostate162.9
Salivarygland63
SkeletalMuscle169.55
Skin27.25
SmoothMuscle114.15
Spinalcord131.3
SubthalamicNucleus179.5
SuperiorCervicalGanglion21.65
TemporalLobe142
Testis138.85
TestisGermCell110.6
TestisIntersitial75.1
TestisLeydigCell54.55
TestisSeminiferousTubule62.95
Thalamus264.3
Thymus147.95
Thyroid246.85
Tongue86.9
Tonsil103.3
Trachea63.4
TrigeminalGanglion46.2
Uterus107.2
UterusCorpus23.8
WholeBlood109.85
Wholebrain672.6
colon287.3
pineal_day286.02
pineal_night233.14
retina127.825
small_intestine256.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16402_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
Amygdala7.93 ± 0.56
Basal Forebrain8.27 ± 0.19
Basal Part of Pons8.86 ± 0.49
Cerebellar Cortex8.22 ± 0.52
Cerebellar Nuclei8.36 ± 0.56
Claustrum7.39 ± 0.79
Epithalamus8.22 ± 0.51
Frontal Lobe8.68 ± 0.52
Globus Pallidus8.59 ± 0.53
Hypothalamus8.69 ± 0.27
Insula8.58 ± 0.39
Limbic Lobe7.99 ± 0.78
Mesencephalon8.23 ± 0.62
Myelencephalon8.29 ± 0.7
Occipital Lobe7.75 ± 0.61
Parietal Lobe8.34 ± 0.6
Pontine Tegmentum8.39 ± 0.52
Striatum8.37 ± 0.47
Subthalamus8.51 ± 0.59
Temporal Lobe8.48 ± 0.57
Thalamus8.61 ± 0.47
White Matter7 ± 0.75
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ndufs3CBCerebellum44.06
100
Ndufs3CTXCerebral cortex100
100
Ndufs3HIPHippocampal region100
100
Ndufs3HPFHippocampal formation100
100
Ndufs3HYHypothalamus100
100
Ndufs3LSXLateral septal complex100
100
Ndufs3MBMidbrain100
100
Ndufs3MYMedulla100
100
Ndufs3OLFOlfactory bulb100
100
Ndufs3PPons87.32
100
Ndufs3PALPallidum96.53
100
Ndufs3RHPRetrohippocampal region100
100
Ndufs3sAMYStriatum-like amygdalar nuclei86.75
98
Ndufs3STRStriatum100
100
Ndufs3STRdStriatum dorsal region100
100
Ndufs3STRvStriatum ventral region100
100
Ndufs3THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NDUS3_HUMAN_0 0 0 0 SLVDLTAVDVPTR PRIDE
NDUS3_HUMAN_0 0 0 0 VVAEPVELAQEFR PRIDE
NDUS3_HUMAN_109 13 109 121 SLVDLTAVDVPTR PRIDE
NDUS3_HUMAN_110 13 110 122 SLVDLTAVDVPTR PRIDE
NDUS3_HUMAN_122 14 122 135 QNRFEIVYNLLSLR PRIDE
NDUS3_HUMAN_125 11 125 135 FEIVYNLLSLR PRIDE
NDUS3_HUMAN_144 17 144 160 TYTDELTPIESAVSVFK PRIDE
NDUS3_HUMAN_168 17 168 184 EIWDMFGVFFANHPDLR PRIDE
NDUS3_HUMAN_218 13 218 230 VVAEPVELAQEFR PRIDE
NDUS3_HUMAN_219 13 219 231 VVAEPVELAQEFR PRIDE
NDUS3_HUMAN_231 15 231 245 KFDLNSPWEAFPVYR PRIDE
NDUS3_HUMAN_56 15 56 70 QLSAFGEYVAEILPK PRIDE
PAp00002364 14 233 246 FDLNSPWEAFPVYR 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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