AutismKB 2.0

Annotation Detail for NDUFA6


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Basic Information Top
Gene Symbol:NDUFA6 ( B14,CI-B14,LYRM6,NADHB14 )
Gene Full Name: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa
Band: 22q13.2
Quick LinksEntrez ID:4700; OMIM: 602138; Uniprot ID:NDUA6_HUMAN; ENSEMBL ID: ENSG00000184983; HGNC ID: 7690
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 body2 / 7076128
blastocyst4 / 6231964
fetus32 / 56401256
neonate0 / 310970 
infant4 / 23620169
juvenile2 / 5555635
adult129 / 193912166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor13 / 119369108
germ cell tumor14 / 26384553
glioma17 / 106883159
head and neck tumor8 / 13630258
kidney tumor9 / 68959130
leukemia12 / 95842125
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma8 / 71755111
non-neoplasia1 / 9725010
normal248 / 336030773
ovarian tumor5 / 7668265
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor23 / 124949184
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites2 / 4001549
bladder2 / 2975767
blood15 / 123478121
bone2 / 7165527
bone marrow10 / 48801204
brain58 / 110098952
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye7 / 21105433
heart17 / 89626189
intestine8 / 23447234
kidney21 / 21177799
larynx1 / 2414541
liver19 / 20774391
lung21 / 33697462
lymph7 / 44270158
lymph node3 / 9161032
mammary gland6 / 15327139
mouth2 / 6705229
muscle35 / 107715324
nerve0 / 157680 
ovary7 / 10205168
pancreas8 / 21481237
parathyroid5 / 20539243
pharynx7 / 41328169
pituitary gland0 / 165850 
placenta13 / 28082546
prostate13 / 18934568
salivary gland5 / 20155248
skin27 / 210574128
spleen0 / 539520 
stomach13 / 96619134
testis11 / 33044233
thymus1 / 8113112
thyroid5 / 47473105
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus15 / 23287864
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202001_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts805.95
Adipocyte297
AdrenalCortex167.55
Adrenalgland217
Amygdala130.9
Appendix24.7
AtrioventricularNode8.75
BDCA4+_DentriticCells432.6
Bonemarrow105.8
BronchialEpithelialCells455.6
CD105+_Endothelial1177.35
CD14+_Monocytes510
CD19+_BCells(neg._sel.)379.85
CD33+_Myeloid478.65
CD34+526.8
CD4+_Tcells146.55
CD56+_NKCells601.25
CD71+_EarlyErythroid833.45
CD8+_Tcells161.25
CardiacMyocytes333.35
Caudatenucleus68.5
Cerebellum69.05
CerebellumPeduncles144.4
CiliaryGanglion26.35
CingulateCortex173.5
Colorectaladenocarcinoma219.25
DorsalRootGanglion17.45
FetalThyroid167.4
Fetalbrain75.05
Fetalliver218.75
Fetallung177.6
GlobusPallidus104.7
Heart1224.85
Hypothalamus322.45
Kidney147.95
Leukemia_chronicMyelogenousK-562219.15
Leukemia_promyelocytic-HL-60447.75
Leukemialymphoblastic(MOLT-4)388.1
Liver477.7
Lung201.25
Lymphnode68.1
Lymphoma_burkitts(Daudi)141.2
Lymphoma_burkitts(Raji)217.35
MedullaOblongata116.05
OccipitalLobe144.05
OlfactoryBulb76.55
Ovary38.8
Pancreas73.7
PancreaticIslet286.95
ParietalLobe87.95
Pituitary152.5
Placenta389.9
Pons43.4
PrefrontalCortex248.1
Prostate289.65
Salivarygland171.15
SkeletalMuscle165.05
Skin39.8
SmoothMuscle399.4
Spinalcord104.1
SubthalamicNucleus142.4
SuperiorCervicalGanglion13.05
TemporalLobe130.9
Testis242.55
TestisGermCell133.6
TestisIntersitial203.25
TestisLeydigCell57.85
TestisSeminiferousTubule77.9
Thalamus250.1
Thymus254.9
Thyroid241.8
Tongue277.9
Tonsil93.95
Trachea97.85
TrigeminalGanglion12.9
Uterus84.75
UterusCorpus20.5
WholeBlood358.9
Wholebrain356.65
colon670.35
pineal_day315.7
pineal_night367.06
retina274.525
small_intestine703.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P23245
  • 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
Amygdala9.44 ± 0.39
Basal Forebrain9.3 ± 0.24
Basal Part of Pons9.92 ± 0.28
Cerebellar Cortex9.12 ± 0.24
Cerebellar Nuclei9.98 ± 0.23
Claustrum9.11 ± 0.59
Epithalamus9.55 ± 0.37
Frontal Lobe9.81 ± 0.42
Globus Pallidus9.9 ± 0.46
Hypothalamus9.69 ± 0.26
Insula9.73 ± 0.42
Limbic Lobe9.22 ± 0.67
Mesencephalon9.43 ± 0.55
Myelencephalon9.44 ± 0.54
Occipital Lobe8.9 ± 0.61
Parietal Lobe9.62 ± 0.38
Pontine Tegmentum9.62 ± 0.41
Striatum9.47 ± 0.46
Subthalamus10.25 ± 0.28
Temporal Lobe9.53 ± 0.38
Thalamus9.65 ± 0.34
White Matter8.36 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ndufa6CBCerebellum36.45
87.08
Ndufa6CTXCerebral cortex100
100
Ndufa6HIPHippocampal region56.51
87.28
Ndufa6HPFHippocampal formation68.77
87.86
Ndufa6HYHypothalamus90.07
88.6
Ndufa6LSXLateral septal complex71.34
55.68
Ndufa6MBMidbrain95.37
100
Ndufa6MYMedulla92.28
100
Ndufa6OLFOlfactory bulb80.87
78.8
Ndufa6PPons80.86
100
Ndufa6PALPallidum82.93
100
Ndufa6RHPRetrohippocampal region94.99
93.87
Ndufa6sAMYStriatum-like amygdalar nuclei89.18
82.22
Ndufa6STRStriatum68.9
57.12
Ndufa6STRdStriatum dorsal region65.29
53.61
Ndufa6STRvStriatum ventral region72.48
57.71
Ndufa6THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NDUA6_HUMAN_105 11 105 115 FFHETEAPRPK PRIDE
NDUA6_HUMAN_77 8 77 84 VVDLLVIK PRIDE
NDUA6_HUMAN_85 10 85 94 GKIELEETIK PRIDE
NDUA6_HUMAN_9 14 9 22 TSTASTFVKPIFSR PRIDE
PAp00002283 16 42 57 EVPNTVHQFQLDITVK 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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