AutismKB 2.0

Annotation Detail for MVK


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Basic Information Top
Gene Symbol:MVK ( FLJ96772,LRBP,MK,MVLK )
Gene Full Name: mevalonate kinase
Band: 12q24.11
Quick LinksEntrez ID:4598; OMIM: 251170; Uniprot ID:KIME_HUMAN; ENSEMBL ID: ENSG00000110921; HGNC ID: 7530
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 body1 / 7076114
blastocyst5 / 6231980
fetus16 / 56401228
neonate2 / 3109764
infant3 / 23620127
juvenile2 / 5555635
adult72 / 193912137
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor4 / 34366116
chondrosarcoma2 / 8282324
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor15 / 26384556
glioma4 / 10688337
head and neck tumor1 / 1363027
kidney tumor5 / 6895972
leukemia3 / 9584231
liver tumor6 / 9635962
lung tumor2 / 10312719
lymphoma13 / 71755181
non-neoplasia1 / 9725010
normal139 / 336030741
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer11 / 102680107
retinoblastoma2 / 4635643
skin tumor10 / 12494980
soft tissue/muscle tissue tumor7 / 12519155
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
blood7 / 12347856
bone3 / 7165541
bone marrow0 / 488010 
brain42 / 110098938
cervix7 / 48171145
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus1 / 2020949
eye11 / 21105452
heart1 / 8962611
intestine5 / 23447221
kidney10 / 21177747
larynx1 / 2414541
liver8 / 20774338
lung7 / 33697420
lymph13 / 44270293
lymph node0 / 916100 
mammary gland6 / 15327139
mouth0 / 670520 
muscle3 / 10771527
nerve0 / 157680 
ovary2 / 10205119
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta16 / 28082556
prostate11 / 18934558
salivary gland0 / 201550 
skin14 / 21057466
spleen1 / 5395218
stomach4 / 9661941
testis23 / 33044269
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 36907_at
Cell line Expression level Expression bar
721_B_lymphoblasts33.85
Adipocyte6.5
AdrenalCortex7.45
Adrenalgland5.45
Amygdala7.5
Appendix6.5
AtrioventricularNode5.65
BDCA4+_DentriticCells7.55
Bonemarrow6.45
BronchialEpithelialCells8.65
CD105+_Endothelial10.55
CD14+_Monocytes7.2
CD19+_BCells(neg._sel.)8.05
CD33+_Myeloid9.3
CD34+9.5
CD4+_Tcells12.1
CD56+_NKCells11.65
CD71+_EarlyErythroid6.45
CD8+_Tcells7.4
CardiacMyocytes8.15
Caudatenucleus4.6
Cerebellum3.95
CerebellumPeduncles7.35
CiliaryGanglion4.4
CingulateCortex6.5
Colorectaladenocarcinoma6.6
DorsalRootGanglion4.85
FetalThyroid7.75
Fetalbrain7.3
Fetalliver5.65
Fetallung11.35
GlobusPallidus4.55
Heart7.7
Hypothalamus7.3
Kidney4.75
Leukemia_chronicMyelogenousK-5627.3
Leukemia_promyelocytic-HL-606.2
Leukemialymphoblastic(MOLT-4)7.2
Liver9.25
Lung10.1
Lymphnode6.3
Lymphoma_burkitts(Daudi)12.05
Lymphoma_burkitts(Raji)11.5
MedullaOblongata5.9
OccipitalLobe5.75
OlfactoryBulb5.2
Ovary4.3
Pancreas9.15
PancreaticIslet11.95
ParietalLobe5.85
Pituitary7.7
Placenta6.95
Pons6.2
PrefrontalCortex8.75
Prostate15.7
Salivarygland5
SkeletalMuscle5.8
Skin4.9
SmoothMuscle7.55
Spinalcord6.95
SubthalamicNucleus5.9
SuperiorCervicalGanglion6.95
TemporalLobe5.9
Testis7.3
TestisGermCell10.65
TestisIntersitial11.45
TestisLeydigCell6.7
TestisSeminiferousTubule6.45
Thalamus6.3
Thymus5.3
Thyroid9.05
Tongue6.25
Tonsil6.3
Trachea5.45
TrigeminalGanglion6.65
Uterus6.4
UterusCorpus7
WholeBlood14.8
Wholebrain4.95
colon6.6
pineal_day8.26
pineal_night8.04
retina8.025
small_intestine6.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P105592
  • 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
Amygdala8.65 ± 0.28
Basal Forebrain9.12 ± 0.39
Basal Part of Pons9.51 ± 0.14
Cerebellar Cortex9.07 ± 0.21
Cerebellar Nuclei9.38 ± 0.22
Claustrum9.17 ± 0.25
Epithalamus8.72 ± 0.4
Frontal Lobe9.2 ± 0.31
Globus Pallidus8.79 ± 0.3
Hypothalamus9.28 ± 0.25
Insula9.13 ± 0.24
Limbic Lobe8.8 ± 0.33
Mesencephalon9.06 ± 0.36
Myelencephalon9.08 ± 0.41
Occipital Lobe8.69 ± 0.26
Parietal Lobe9.03 ± 0.35
Pontine Tegmentum8.94 ± 0.32
Striatum8.54 ± 0.29
Subthalamus9.24 ± 0.2
Temporal Lobe9.03 ± 0.3
Thalamus9.14 ± 0.32
White Matter10.34 ± 0.4
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KIME_HUMAN_227 15 227 241 SPALQILLTNTKVPR PRIDE
PAp00005379 27 331 357 LTGAGGGGCGITLLKPGLEQPEVEATK 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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