AutismKB 2.0

Annotation Detail for NDUFA4


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Basic Information Top
Gene Symbol:NDUFA4 ( CI-9k,CI-MLRQ,FLJ27440,MGC104422,MGC126843,MGC126845,MLRQ )
Gene Full Name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa
Band: 7p21.3
Quick LinksEntrez ID:4697; OMIM: 603833; Uniprot ID:NDUA4_HUMAN; ENSEMBL ID: ENSG00000189043; HGNC ID: 7687
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
blastocyst6 / 6231996
fetus86 / 564012152
neonate7 / 31097225
infant0 / 236200 
juvenile3 / 5555653
adult379 / 1939121195
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor8 / 12794625
bladder carcinoma5 / 17475286
breast (mammary gland) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma13 / 82823156
colorectal tumor9 / 11424678
esophageal tumor3 / 17290173
gastrointestinal tumor34 / 119369284
germ cell tumor22 / 26384583
glioma30 / 106883280
head and neck tumor2 / 13630214
kidney tumor17 / 68959246
leukemia22 / 95842229
liver tumor26 / 96359269
lung tumor8 / 10312777
lymphoma2 / 7175527
non-neoplasia5 / 9725051
normal669 / 3360307199
ovarian tumor3 / 7668239
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer60 / 102680584
retinoblastoma2 / 4635643
skin tumor9 / 12494972
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland12 / 33197361
ascites14 / 40015349
bladder7 / 29757235
blood20 / 123478161
bone6 / 7165583
bone marrow33 / 48801676
brain148 / 1100989134
cervix2 / 4817141
connective tissue17 / 149255113
ear4 / 16212246
embryonic tissue37 / 215722171
esophagus3 / 20209148
eye60 / 211054284
heart92 / 896261026
intestine25 / 234472106
kidney28 / 211777132
larynx0 / 241450 
liver66 / 207743317
lung40 / 336974118
lymph2 / 4427045
lymph node2 / 9161021
mammary gland7 / 15327145
mouth1 / 6705214
muscle40 / 107715371
nerve0 / 157680 
ovary4 / 10205139
pancreas18 / 21481283
parathyroid22 / 205391071
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta31 / 280825110
prostate72 / 189345380
salivary gland5 / 20155248
skin34 / 210574161
spleen2 / 5395237
stomach36 / 96619372
testis29 / 33044287
thymus3 / 8113136
thyroid3 / 4747363
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord7 / 13680511
uterus31 / 232878133
vascular36 / 51780695
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217773_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1056.3
Adipocyte1194.4
AdrenalCortex288.9
Adrenalgland449.55
Amygdala3471.55
Appendix207.35
AtrioventricularNode51.9
BDCA4+_DentriticCells688.8
Bonemarrow308.75
BronchialEpithelialCells1041.35
CD105+_Endothelial839.75
CD14+_Monocytes655.05
CD19+_BCells(neg._sel.)726.9
CD33+_Myeloid543.7
CD34+735.75
CD4+_Tcells517.75
CD56+_NKCells556.5
CD71+_EarlyErythroid408.05
CD8+_Tcells395.65
CardiacMyocytes688.95
Caudatenucleus1731.55
Cerebellum1126.15
CerebellumPeduncles2525.85
CiliaryGanglion143.6
CingulateCortex2168.55
Colorectaladenocarcinoma712.9
DorsalRootGanglion306.7
FetalThyroid873.45
Fetalbrain930.3
Fetalliver488.5
Fetallung649.8
GlobusPallidus1114.25
Heart2486.25
Hypothalamus2409
Kidney956.9
Leukemia_chronicMyelogenousK-5621410.8
Leukemia_promyelocytic-HL-60944.25
Leukemialymphoblastic(MOLT-4)269.45
Liver504.45
Lung798.35
Lymphnode441.3
Lymphoma_burkitts(Daudi)1133.25
Lymphoma_burkitts(Raji)1055.85
MedullaOblongata1916.25
OccipitalLobe2164
OlfactoryBulb590.8
Ovary424.9
Pancreas361.65
PancreaticIslet413.45
ParietalLobe2185.2
Pituitary203.8
Placenta416.2
Pons1374.6
PrefrontalCortex1999.7
Prostate1001.15
Salivarygland728.9
SkeletalMuscle539.85
Skin113.7
SmoothMuscle1095
Spinalcord1126.45
SubthalamicNucleus1449.65
SuperiorCervicalGanglion54.75
TemporalLobe2405.05
Testis215.8
TestisGermCell450.8
TestisIntersitial187.75
TestisLeydigCell228.7
TestisSeminiferousTubule155.1
Thalamus2275.35
Thymus579.55
Thyroid1326.4
Tongue935.55
Tonsil464.1
Trachea511
TrigeminalGanglion145.6
Uterus579.95
UterusCorpus539.3
WholeBlood438.1
Wholebrain3502.1
colon847.25
pineal_day2270.1
pineal_night2241.72
retina1222.025
small_intestine1061.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P98313
  • 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
Amygdala13.64 ± 0.38
Basal Forebrain13.32 ± 0.24
Basal Part of Pons14.16 ± 0.34
Cerebellar Cortex13.49 ± 0.27
Cerebellar Nuclei13.61 ± 0.44
Claustrum12.97 ± 0.74
Epithalamus13.26 ± 0.28
Frontal Lobe13.8 ± 0.42
Globus Pallidus13.63 ± 0.55
Hypothalamus13.47 ± 0.28
Insula13.75 ± 0.36
Limbic Lobe13.35 ± 0.78
Mesencephalon13.4 ± 0.64
Myelencephalon13.43 ± 0.63
Occipital Lobe12.86 ± 0.65
Parietal Lobe13.71 ± 0.54
Pontine Tegmentum13.49 ± 0.36
Striatum12.89 ± 0.53
Subthalamus14.25 ± 0.23
Temporal Lobe13.7 ± 0.42
Thalamus13.4 ± 0.36
White Matter12.34 ± 0.18
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ndufa4CBCerebellum34.41
87.69
Ndufa4CTXCerebral cortex100
100
Ndufa4HIPHippocampal region59.94
100
Ndufa4HPFHippocampal formation68.2
98.21
Ndufa4HYHypothalamus32.47
35.87
Ndufa4LSXLateral septal complex50.04
52.73
Ndufa4MBMidbrain62.92
81.06
Ndufa4MYMedulla75.7
100
Ndufa4OLFOlfactory bulb56.08
59.54
Ndufa4PPons61.56
100
Ndufa4PALPallidum48.35
61.57
Ndufa4RHPRetrohippocampal region85.49
91.96
Ndufa4sAMYStriatum-like amygdalar nuclei50.51
49.56
Ndufa4STRStriatum37.93
37.18
Ndufa4STRdStriatum dorsal region33.67
32.89
Ndufa4STRvStriatum ventral region41.78
38.99
Ndufa4THThalamus80.64
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NDUA4_HUMAN_0 0 0 0 FYSVNVDYSK PRIDE
NDUA4_HUMAN_35 12 35 46 LALFNPDVCWDR PRIDE
NDUA4_HUMAN_36 12 36 47 LALFNPDVCWDR PRIDE
NDUA4_HUMAN_48 8 48 55 NNPEPWNK PRIDE
NDUA4_HUMAN_56 8 56 63 LGPNDQYK PRIDE
NDUA4_HUMAN_63 10 63 72 FYSVNVDYSK PRIDE
NDUA4_HUMAN_64 10 64 73 FYSVNVDYSK PRIDE
NDUA4_HUMAN_77 5 77 81 ERPDF PRIDE
PAp00034011 10 64 73 FYSVNVDYSK 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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