AutismKB 2.0

Annotation Detail for MAP2K1


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Basic Information Top
Gene Symbol:MAP2K1 ( MAPKK1,MEK1,MKK1,PRKMK1 )
Gene Full Name: mitogen-activated protein kinase kinase 1
Band: 15q22.31
Quick LinksEntrez ID:5604; OMIM: 176872; Uniprot ID:MP2K1_HUMAN; ENSEMBL ID: ENSG00000169032; HGNC ID: 6840
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
blastocyst2 / 6231932
fetus16 / 56401228
neonate1 / 3109732
infant0 / 236200 
juvenile6 / 55556107
adult80 / 193912141
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) tumor2 / 9417821
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma6 / 10688356
head and neck tumor6 / 13630244
kidney tumor5 / 6895972
leukemia2 / 9584220
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma6 / 7175583
non-neoplasia3 / 9725030
normal136 / 336030740
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer14 / 102680136
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone5 / 7165569
bone marrow2 / 4880140
brain31 / 110098928
cervix1 / 4817120
connective tissue7 / 14925546
ear2 / 16212123
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye7 / 21105433
heart5 / 8962655
intestine11 / 23447246
kidney11 / 21177751
larynx2 / 2414582
liver8 / 20774338
lung14 / 33697441
lymph4 / 4427090
lymph node10 / 91610109
mammary gland5 / 15327132
mouth1 / 6705214
muscle2 / 10771518
nerve1 / 1576863
ovary2 / 10205119
pancreas7 / 21481232
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta3 / 28082510
prostate20 / 189345105
salivary gland2 / 2015599
skin8 / 21057437
spleen1 / 5395218
stomach1 / 9661910
testis4 / 33044212
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord1 / 1368073
uterus13 / 23287855
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202670_at
Cell line Expression level Expression bar
721_B_lymphoblasts286.9
Adipocyte28.05
AdrenalCortex8.25
Adrenalgland18.75
Amygdala352.8
Appendix11.75
AtrioventricularNode2.95
BDCA4+_DentriticCells283.05
Bonemarrow35.1
BronchialEpithelialCells143.7
CD105+_Endothelial36.25
CD14+_Monocytes223.3
CD19+_BCells(neg._sel.)158.25
CD33+_Myeloid289.3
CD34+45.35
CD4+_Tcells122.55
CD56+_NKCells204.75
CD71+_EarlyErythroid24.05
CD8+_Tcells99.35
CardiacMyocytes43.8
Caudatenucleus108
Cerebellum77.45
CerebellumPeduncles77.1
CiliaryGanglion9.5
CingulateCortex72.4
Colorectaladenocarcinoma23.5
DorsalRootGanglion6.45
FetalThyroid17.1
Fetalbrain40.45
Fetalliver14.85
Fetallung32.6
GlobusPallidus55.7
Heart17.45
Hypothalamus122.65
Kidney13.65
Leukemia_chronicMyelogenousK-56220.1
Leukemia_promyelocytic-HL-6077.65
Leukemialymphoblastic(MOLT-4)32.3
Liver52.75
Lung66.55
Lymphnode35.55
Lymphoma_burkitts(Daudi)55.85
Lymphoma_burkitts(Raji)88.05
MedullaOblongata79.6
OccipitalLobe149.4
OlfactoryBulb25.1
Ovary9.3
Pancreas16.45
PancreaticIslet50.95
ParietalLobe87.8
Pituitary27.25
Placenta29.6
Pons44.65
PrefrontalCortex128.3
Prostate53.4
Salivarygland15.25
SkeletalMuscle7.85
Skin7.3
SmoothMuscle143.35
Spinalcord29.45
SubthalamicNucleus91.3
SuperiorCervicalGanglion10.85
TemporalLobe81.6
Testis15
TestisGermCell11.15
TestisIntersitial9.5
TestisLeydigCell12.3
TestisSeminiferousTubule8.75
Thalamus66.3
Thymus32.25
Thyroid31.75
Tongue20.9
Tonsil39.5
Trachea21.15
TrigeminalGanglion11.2
Uterus16.8
UterusCorpus16.5
WholeBlood95.3
Wholebrain432.6
colon28.4
pineal_day47.6
pineal_night58.68
retina58.975
small_intestine22.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16758_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
Amygdala5.39 ± 0.58
Basal Forebrain4.89 ± 0.29
Basal Part of Pons5 ± 0.94
Cerebellar Cortex4.8 ± 0.66
Cerebellar Nuclei4.4 ± 0.65
Claustrum6.35 ± 0.55
Epithalamus4.59 ± 0.62
Frontal Lobe5.33 ± 0.65
Globus Pallidus4.28 ± 0.86
Hypothalamus4.57 ± 0.62
Insula5.42 ± 0.42
Limbic Lobe5.54 ± 0.65
Mesencephalon5.28 ± 0.73
Myelencephalon5.14 ± 0.73
Occipital Lobe4.63 ± 0.75
Parietal Lobe5.02 ± 0.56
Pontine Tegmentum4.97 ± 0.7
Striatum4.92 ± 0.79
Subthalamus4.99 ± 0.94
Temporal Lobe5.37 ± 0.59
Thalamus4.74 ± 0.59
White Matter3.61 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Map2k1CBCerebellum54.78
100
Map2k1CTXCerebral cortex100
100
Map2k1HIPHippocampal region100
100
Map2k1HPFHippocampal formation100
100
Map2k1HYHypothalamus94.06
100
Map2k1LSXLateral septal complex100
100
Map2k1MBMidbrain74.05
85.05
Map2k1MYMedulla61.8
83.4
Map2k1OLFOlfactory bulb100
100
Map2k1PPons56.73
75.1
Map2k1PALPallidum77.78
100
Map2k1RHPRetrohippocampal region100
100
Map2k1sAMYStriatum-like amygdalar nuclei100
100
Map2k1STRStriatum100
100
Map2k1STRdStriatum dorsal region100
100
Map2k1STRvStriatum ventral region100
100
Map2k1THThalamus64.38
72.2
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MP2K1_HUMAN_189 12 189 200 DVKPSNILVNSR PRIDE
MP2K1_HUMAN_205 22 205 226 LCDFGVSGQLIDSMANSFVGTR PRIDE
MP2K1_HUMAN_282 9 282 290 AAETPPRPR PRIDE
PAp00004738 22 206 227 LCDFGVSGQLIDSMANSFVGTR 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