AutismKB 2.0

Annotation Detail for NDUFA5


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Basic Information Top
Gene Symbol:NDUFA5 ( B13,CI-13KD-B,CI-13kB,DKFZp781K1356,FLJ12147,NUFM,UQOR13 )
Gene Full Name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
Band: 7q31.32
Quick LinksEntrez ID:4698; OMIM: 601677; Uniprot ID:NDUA5_HUMAN; ENSEMBL ID: ENSG00000128609; HGNC ID: 7688
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 body8 / 70761113
blastocyst1 / 6231916
fetus41 / 56401272
neonate0 / 310970 
infant1 / 2362042
juvenile7 / 55556125
adult180 / 193912192
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma14 / 17475801
breast (mammary gland) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor46 / 263845174
glioma39 / 106883364
head and neck tumor10 / 13630273
kidney tumor15 / 68959217
leukemia55 / 95842573
liver tumor6 / 9635962
lung tumor1 / 1031279
lymphoma4 / 7175555
non-neoplasia4 / 9725041
normal397 / 3360307118
ovarian tumor2 / 7668226
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer23 / 102680223
retinoblastoma1 / 4635621
skin tumor11 / 12494988
soft tissue/muscle tissue tumor24 / 125191191
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland6 / 33197180
ascites1 / 4001524
bladder18 / 29757604
blood9 / 12347872
bone5 / 7165569
bone marrow55 / 488011127
brain173 / 1100989157
cervix1 / 4817120
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue21 / 21572297
esophagus0 / 202090 
eye31 / 211054146
heart19 / 89626211
intestine9 / 23447238
kidney49 / 211777231
larynx1 / 2414541
liver30 / 207743144
lung19 / 33697456
lymph2 / 4427045
lymph node3 / 9161032
mammary gland9 / 15327158
mouth4 / 6705259
muscle59 / 107715547
nerve2 / 15768126
ovary4 / 10205139
pancreas33 / 214812153
parathyroid6 / 20539292
pharynx4 / 4132896
pituitary gland2 / 16585120
placenta15 / 28082553
prostate31 / 189345163
salivary gland21 / 201551041
skin12 / 21057456
spleen0 / 539520 
stomach4 / 9661941
testis64 / 330442193
thymus1 / 8113112
thyroid5 / 47473105
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus22 / 23287894
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201304_at
Cell line Expression level Expression bar
721_B_lymphoblasts101.15
Adipocyte29
AdrenalCortex49.1
Adrenalgland35.8
Amygdala1084.9
Appendix25.95
AtrioventricularNode18.9
BDCA4+_DentriticCells35.65
Bonemarrow11.15
BronchialEpithelialCells43.3
CD105+_Endothelial87.55
CD14+_Monocytes35
CD19+_BCells(neg._sel.)53.3
CD33+_Myeloid40.8
CD34+62.05
CD4+_Tcells53.5
CD56+_NKCells50.05
CD71+_EarlyErythroid21.7
CD8+_Tcells80.2
CardiacMyocytes24.45
Caudatenucleus145.3
Cerebellum71.65
CerebellumPeduncles53.25
CiliaryGanglion18.55
CingulateCortex157.8
Colorectaladenocarcinoma46.45
DorsalRootGanglion18.8
FetalThyroid49.35
Fetalbrain238.15
Fetalliver71
Fetallung30.4
GlobusPallidus100.85
Heart17.85
Hypothalamus349.25
Kidney19.3
Leukemia_chronicMyelogenousK-56294.45
Leukemia_promyelocytic-HL-6074
Leukemialymphoblastic(MOLT-4)38.55
Liver9.05
Lung7.2
Lymphnode37
Lymphoma_burkitts(Daudi)64.55
Lymphoma_burkitts(Raji)94.1
MedullaOblongata144.75
OccipitalLobe283.35
OlfactoryBulb23.3
Ovary20.65
Pancreas20.15
PancreaticIslet65.05
ParietalLobe142.65
Pituitary216.05
Placenta16.3
Pons44.9
PrefrontalCortex350.75
Prostate68.05
Salivarygland55.5
SkeletalMuscle42.4
Skin18.95
SmoothMuscle33.9
Spinalcord107.3
SubthalamicNucleus166.3
SuperiorCervicalGanglion15.8
TemporalLobe108.9
Testis11.9
TestisGermCell52.25
TestisIntersitial22
TestisLeydigCell20.05
TestisSeminiferousTubule19.6
Thalamus169.7
Thymus15.5
Thyroid996.35
Tongue38.9
Tonsil19.8
Trachea60
TrigeminalGanglion27.5
Uterus135
UterusCorpus18.1
WholeBlood41.8
Wholebrain222.8
colon481.55
pineal_day409.72
pineal_night416.04
retina151.95
small_intestine239.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P96641
  • 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
Amygdala10.75 ± 0.25
Basal Forebrain10.37 ± 0.14
Basal Part of Pons10.41 ± 0.14
Cerebellar Cortex10.24 ± 0.26
Cerebellar Nuclei10.7 ± 0.31
Claustrum10.75 ± 0.47
Epithalamus10.02 ± 0.35
Frontal Lobe10.52 ± 0.37
Globus Pallidus10.43 ± 0.27
Hypothalamus10.5 ± 0.23
Insula10.45 ± 0.32
Limbic Lobe10.66 ± 0.39
Mesencephalon10.54 ± 0.39
Myelencephalon10.45 ± 0.32
Occipital Lobe10.64 ± 0.25
Parietal Lobe10.57 ± 0.32
Pontine Tegmentum10.55 ± 0.37
Striatum10.59 ± 0.28
Subthalamus10.62 ± 0.22
Temporal Lobe10.48 ± 0.27
Thalamus10.48 ± 0.24
White Matter9.55 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ndufa5CBCerebellum50.99
100
Ndufa5CTXCerebral cortex100
100
Ndufa5HIPHippocampal region100
100
Ndufa5HPFHippocampal formation100
100
Ndufa5HYHypothalamus100
100
Ndufa5LSXLateral septal complex93.24
84.7
Ndufa5MBMidbrain100
100
Ndufa5MYMedulla100
100
Ndufa5OLFOlfactory bulb100
100
Ndufa5PPons99.21
100
Ndufa5PALPallidum100
100
Ndufa5RHPRetrohippocampal region100
100
Ndufa5sAMYStriatum-like amygdalar nuclei100
100
Ndufa5STRStriatum100
100
Ndufa5STRdStriatum dorsal region100
100
Ndufa5STRvStriatum ventral region100
100
Ndufa5THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NDUA5_HUMAN_0 0 0 0 ILDVLEEIPK PRIDE
NDUA5_HUMAN_30 10 30 39 ILDVLEEIPK PRIDE
NDUA5_HUMAN_30 15 30 44 ILDVLEEIPKNAAYR PRIDE
NDUA5_HUMAN_31 10 31 40 ILDVLEEIPK PRIDE
NDUA5_HUMAN_66 26 66 91 KLEDQLQGGQLEEVILQAEHELNLAR PRIDE
NDUA5_HUMAN_67 26 67 92 KLEDQLQGGQLEEVILQAEHELNLAR PRIDE
NDUA5_HUMAN_7 16 7 22 TTGLVGLAVCNTPHER PRIDE
NDUA5_HUMAN_98 15 98 112 LWEPLVEEPPADQWK PRIDE
PAp00004428 26 67 92 KLEDQLQGGQLEEVILQAEHELNLAR 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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