AutismKB 2.0

Annotation Detail for MAP3K1


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Basic Information Top
Gene Symbol:MAP3K1 ( MAPKKK1,MEKK,MEKK1 )
Gene Full Name: mitogen-activated protein kinase kinase kinase 1
Band: 5q11.2
Quick LinksEntrez ID:4214; OMIM: 600982; Uniprot ID:M3K1_HUMAN; ENSEMBL ID: ENSG00000095015; HGNC ID: 6848
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
blastocyst1 / 6231916
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult46 / 193912123
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor8 / 13630258
kidney tumor1 / 6895914
leukemia3 / 9584231
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal59 / 336030717
ovarian tumor6 / 7668278
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow2 / 4880140
brain8 / 11009897
cervix0 / 481710 
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine3 / 23447212
kidney8 / 21177737
larynx0 / 241450 
liver3 / 20774314
lung3 / 3369748
lymph0 / 442700 
lymph node11 / 91610120
mammary gland7 / 15327145
mouth2 / 6705229
muscle2 / 10771518
nerve0 / 157680 
ovary6 / 10205158
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta5 / 28082517
prostate5 / 18934526
salivary gland0 / 201550 
skin6 / 21057428
spleen1 / 5395218
stomach0 / 966190 
testis6 / 33044218
thymus0 / 811310 
thyroid5 / 47473105
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214786_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.45
Adipocyte13.4
AdrenalCortex21.1
Adrenalgland13.6
Amygdala10.7
Appendix18
AtrioventricularNode23.2
BDCA4+_DentriticCells28.45
Bonemarrow16.3
BronchialEpithelialCells12.15
CD105+_Endothelial13.5
CD14+_Monocytes16.85
CD19+_BCells(neg._sel.)25
CD33+_Myeloid29.65
CD34+15.4
CD4+_Tcells23.7
CD56+_NKCells16.15
CD71+_EarlyErythroid14.05
CD8+_Tcells13.5
CardiacMyocytes22.9
Caudatenucleus13.15
Cerebellum12.05
CerebellumPeduncles21.3
CiliaryGanglion25.85
CingulateCortex15.45
Colorectaladenocarcinoma12.65
DorsalRootGanglion16.65
FetalThyroid15.15
Fetalbrain14.3
Fetalliver12.4
Fetallung9.35
GlobusPallidus12.65
Heart24.5
Hypothalamus13.95
Kidney14.5
Leukemia_chronicMyelogenousK-56213.05
Leukemia_promyelocytic-HL-6012.9
Leukemialymphoblastic(MOLT-4)10.85
Liver21.7
Lung15.7
Lymphnode13.15
Lymphoma_burkitts(Daudi)20
Lymphoma_burkitts(Raji)21.6
MedullaOblongata13
OccipitalLobe13.05
OlfactoryBulb11.35
Ovary12.75
Pancreas12.4
PancreaticIslet17.95
ParietalLobe17.95
Pituitary17.25
Placenta14
Pons14.95
PrefrontalCortex14.85
Prostate14.6
Salivarygland12.7
SkeletalMuscle28.45
Skin21.4
SmoothMuscle15.75
Spinalcord15.5
SubthalamicNucleus14.9
SuperiorCervicalGanglion24.95
TemporalLobe13.95
Testis12.3
TestisGermCell11.55
TestisIntersitial12.2
TestisLeydigCell16.05
TestisSeminiferousTubule13.7
Thalamus15.4
Thymus8.15
Thyroid14.05
Tongue18.4
Tonsil17.3
Trachea11.8
TrigeminalGanglion19.1
Uterus9.9
UterusCorpus14.35
WholeBlood35.3
Wholebrain8
colon10.35
pineal_day16.4
pineal_night15.66
retina18.95
small_intestine11.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P766204
  • 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
Amygdala3.22 ± 0.84
Basal Forebrain3.01 ± 0.51
Basal Part of Pons2.7 ± 0.5
Cerebellar Cortex3.21 ± 0.54
Cerebellar Nuclei3.16 ± 0.49
Claustrum3.37 ± 0.78
Epithalamus2.87 ± 0.56
Frontal Lobe2.77 ± 0.68
Globus Pallidus3.33 ± 0.77
Hypothalamus2.76 ± 0.63
Insula2.76 ± 0.59
Limbic Lobe2.83 ± 0.68
Mesencephalon3.23 ± 0.74
Myelencephalon3.05 ± 0.66
Occipital Lobe3.43 ± 0.62
Parietal Lobe2.93 ± 0.72
Pontine Tegmentum3.07 ± 0.74
Striatum3.58 ± 0.7
Subthalamus3.22 ± 1.16
Temporal Lobe2.84 ± 0.72
Thalamus3.3 ± 0.62
White Matter3.62 ± 0.99
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Map3k1CBCerebellum3.74
4.18
Map3k1CTXCerebral cortex0.6
0.62
Map3k1HIPHippocampal region1.02
1.46
Map3k1HPFHippocampal formation0.94
1.35
Map3k1HYHypothalamus1.83
1.56
Map3k1LSXLateral septal complex15.43
10.97
Map3k1MBMidbrain0.64
0.94
Map3k1MYMedulla1.27
1.64
Map3k1OLFOlfactory bulb22.89
23.3
Map3k1PPons0.78
1.12
Map3k1PALPallidum1.44
1.08
Map3k1RHPRetrohippocampal region0.73
1.2
Map3k1sAMYStriatum-like amygdalar nuclei1.76
1.47
Map3k1STRStriatum1.87
1.58
Map3k1STRdStriatum dorsal region0.33
0.48
Map3k1STRvStriatum ventral region1.98
1.87
Map3k1THThalamus0.74
0.67
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00505047 27 120 146 GGAHLTESVAAPDSGASSPAAAEPGEK 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