AutismKB 2.0

Annotation Detail for NDUFV2


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Basic Information Top
Gene Symbol:NDUFV2 ( CI-24k )
Gene Full Name: NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
Band: 18p11.22
Quick LinksEntrez ID:4729; OMIM: 600532; Uniprot ID:NDUV2_HUMAN; ENSEMBL ID: ENSG00000178127; HGNC ID: 7717
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 body6 / 7076184
blastocyst1 / 6231916
fetus15 / 56401226
neonate0 / 310970 
infant1 / 2362042
juvenile3 / 5555653
adult134 / 193912169
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) tumor7 / 9417874
cervical tumor6 / 34366174
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor2 / 2638457
glioma3 / 10688328
head and neck tumor5 / 13630236
kidney tumor6 / 6895987
leukemia3 / 9584231
liver tumor4 / 9635941
lung tumor5 / 10312748
lymphoma6 / 7175583
non-neoplasia2 / 9725020
normal163 / 336030748
ovarian tumor9 / 76682117
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer22 / 102680214
retinoblastoma1 / 4635621
skin tumor9 / 12494972
soft tissue/muscle tissue tumor35 / 125191279
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites3 / 4001574
bladder0 / 297570 
blood5 / 12347840
bone9 / 71655125
bone marrow0 / 488010 
brain45 / 110098940
cervix6 / 48171124
connective tissue34 / 149255227
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye13 / 21105461
heart7 / 8962678
intestine5 / 23447221
kidney9 / 21177742
larynx0 / 241450 
liver8 / 20774338
lung9 / 33697426
lymph1 / 4427022
lymph node8 / 9161087
mammary gland7 / 15327145
mouth4 / 6705259
muscle12 / 107715111
nerve2 / 15768126
ovary12 / 102051117
pancreas16 / 21481274
parathyroid0 / 205390 
pharynx9 / 41328217
pituitary gland1 / 1658560
placenta8 / 28082528
prostate28 / 189345147
salivary gland2 / 2015599
skin11 / 21057452
spleen2 / 5395237
stomach10 / 96619103
testis5 / 33044215
thymus1 / 8113112
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202941_at
Cell line Expression level Expression bar
721_B_lymphoblasts2433.2
Adipocyte551.25
AdrenalCortex186.45
Adrenalgland308.75
Amygdala350.2
Appendix51.15
AtrioventricularNode48.35
BDCA4+_DentriticCells1185.3
Bonemarrow114
BronchialEpithelialCells850.3
CD105+_Endothelial1171.4
CD14+_Monocytes531.6
CD19+_BCells(neg._sel.)768
CD33+_Myeloid556.9
CD34+1092.55
CD4+_Tcells492.25
CD56+_NKCells518.05
CD71+_EarlyErythroid642.85
CD8+_Tcells412.6
CardiacMyocytes435.7
Caudatenucleus154.95
Cerebellum86.7
CerebellumPeduncles235.1
CiliaryGanglion107.1
CingulateCortex334.5
Colorectaladenocarcinoma364.95
DorsalRootGanglion79.9
FetalThyroid318.85
Fetalbrain182.85
Fetalliver258.8
Fetallung353.3
GlobusPallidus162.25
Heart611.45
Hypothalamus521.35
Kidney302.3
Leukemia_chronicMyelogenousK-562781.35
Leukemia_promyelocytic-HL-60960.2
Leukemialymphoblastic(MOLT-4)320.15
Liver1039.45
Lung361.4
Lymphnode165.9
Lymphoma_burkitts(Daudi)1022.25
Lymphoma_burkitts(Raji)196.95
MedullaOblongata249.45
OccipitalLobe279.55
OlfactoryBulb227.75
Ovary58.1
Pancreas193.6
PancreaticIslet658.4
ParietalLobe243.4
Pituitary238.95
Placenta332.1
Pons199.15
PrefrontalCortex298.2
Prostate550.95
Salivarygland194.45
SkeletalMuscle716.45
Skin115.85
SmoothMuscle796.65
Spinalcord249.85
SubthalamicNucleus327.3
SuperiorCervicalGanglion47.55
TemporalLobe297.5
Testis405.25
TestisGermCell493.35
TestisIntersitial446.4
TestisLeydigCell303.7
TestisSeminiferousTubule258.9
Thalamus474.6
Thymus277.2
Thyroid423.15
Tongue489
Tonsil294.05
Trachea186.95
TrigeminalGanglion28.35
Uterus174.35
UterusCorpus121.8
WholeBlood270.85
Wholebrain457.25
colon620.75
pineal_day978.04
pineal_night792.68
retina373.9
small_intestine456.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16580_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 ± 0.45
Basal Forebrain8.71 ± 0.37
Basal Part of Pons9.35 ± 0.22
Cerebellar Cortex9.21 ± 0.2
Cerebellar Nuclei9.43 ± 0.31
Claustrum8.27 ± 0.46
Epithalamus8.77 ± 0.3
Frontal Lobe9.17 ± 0.33
Globus Pallidus8.45 ± 0.15
Hypothalamus9.18 ± 0.2
Insula9.09 ± 0.28
Limbic Lobe8.72 ± 0.54
Mesencephalon8.87 ± 0.45
Myelencephalon8.85 ± 0.49
Occipital Lobe8.53 ± 0.47
Parietal Lobe8.98 ± 0.44
Pontine Tegmentum8.96 ± 0.35
Striatum8.4 ± 0.4
Subthalamus9.46 ± 0.29
Temporal Lobe9 ± 0.36
Thalamus8.95 ± 0.3
White Matter8.28 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ndufv2CBCerebellum45.25
100
Ndufv2CTXCerebral cortex100
100
Ndufv2HIPHippocampal region100
100
Ndufv2HPFHippocampal formation100
100
Ndufv2HYHypothalamus100
100
Ndufv2LSXLateral septal complex100
100
Ndufv2MBMidbrain100
100
Ndufv2MYMedulla70.76
100
Ndufv2OLFOlfactory bulb100
100
Ndufv2PPons81.44
100
Ndufv2PALPallidum100
100
Ndufv2RHPRetrohippocampal region100
100
Ndufv2sAMYStriatum-like amygdalar nuclei100
100
Ndufv2STRStriatum100
100
Ndufv2STRdStriatum dorsal region100
100
Ndufv2STRvStriatum ventral region100
100
Ndufv2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NDUV2_HUMAN_0 0 0 0 AAAVLPVLDLAQR PRIDE
NDUV2_HUMAN_0 0 0 0 DIEEIIDELK PRIDE
NDUV2_HUMAN_101 11 101 111 VAEVLQVPPMR PRIDE
NDUV2_HUMAN_112 13 112 124 VYEVATFYTMYNR PRIDE
NDUV2_HUMAN_112 18 112 129 VYEVATFYTMYNRKPVGK PRIDE
NDUV2_HUMAN_130 14 130 143 YHIQVCTTTPCMLR PRIDE
NDUV2_HUMAN_144 11 144 154 NSDSILEAIQK PRIDE
NDUV2_HUMAN_156 4 156 159 LGIK PRIDE
NDUV2_HUMAN_199 10 199 208 DIEEIIDELK PRIDE
NDUV2_HUMAN_200 10 200 209 DIEEIIDELK PRIDE
NDUV2_HUMAN_223 27 223 249 FSCEPAGGLTSLTEPPKGPGFGVQAGL PRIDE
NDUV2_HUMAN_33 10 33 42 GAGGALFVHR PRIDE
NDUV2_HUMAN_43 20 43 62 DTPENNPDTPFDFTPENYKR PRIDE
NDUV2_HUMAN_75 13 75 87 AAAVLPVLDLAQR PRIDE
NDUV2_HUMAN_76 13 76 88 AAAVLPVLDLAQR PRIDE
NDUV2_HUMAN_89 12 89 100 QNGWLPISAMNK PRIDE
PAp00002562 17 223 239 FSCEPAGGLTSLTEPPK 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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