AutismKB 2.0

Annotation Detail for MITF


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Basic Information Top
Gene Symbol:MITF ( MI,WS2A,bHLHe32 )
Gene Full Name: microphthalmia-associated transcription factor
Band: 3p13
Quick LinksEntrez ID:4286; OMIM: 156845; Uniprot ID:MITF_HUMAN; ENSEMBL ID: ENSG00000187098; HGNC ID: 7105
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 body0 / 707610 
blastocyst0 / 623190 
fetus16 / 56401228
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult54 / 193912127
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) tumor11 / 94178116
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor5 / 26384518
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal112 / 336030733
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor42 / 124949336
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor4 / 9025744
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 
blood2 / 12347816
bone2 / 7165527
bone marrow0 / 488010 
brain20 / 110098918
cervix3 / 4817162
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye10 / 21105447
heart7 / 8962678
intestine1 / 2344724
kidney14 / 21177766
larynx0 / 241450 
liver5 / 20774324
lung6 / 33697417
lymph0 / 442700 
lymph node1 / 9161010
mammary gland11 / 15327171
mouth3 / 6705244
muscle3 / 10771527
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta4 / 28082514
prostate6 / 18934531
salivary gland0 / 201550 
skin66 / 210574313
spleen1 / 5395218
stomach3 / 9661931
testis3 / 3304429
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus16 / 23287868
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207233_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts110.3
Adipocyte143.75
AdrenalCortex46
Adrenalgland49
Amygdala41.9
Appendix44.9
AtrioventricularNode33.25
BDCA4+_DentriticCells35.35
Bonemarrow41.85
BronchialEpithelialCells40.8
CD105+_Endothelial46.65
CD14+_Monocytes43.5
CD19+_BCells(neg._sel.)38.15
CD33+_Myeloid87.65
CD34+49.15
CD4+_Tcells38.3
CD56+_NKCells32.45
CD71+_EarlyErythroid35.1
CD8+_Tcells33.75
CardiacMyocytes55.6
Caudatenucleus41.75
Cerebellum32.95
CerebellumPeduncles47.15
CiliaryGanglion30.45
CingulateCortex41.75
Colorectaladenocarcinoma40.3
DorsalRootGanglion34.5
FetalThyroid42.25
Fetalbrain40.1
Fetalliver58.15
Fetallung32.45
GlobusPallidus31.85
Heart65.35
Hypothalamus43.3
Kidney47.35
Leukemia_chronicMyelogenousK-56237.2
Leukemia_promyelocytic-HL-6034.8
Leukemialymphoblastic(MOLT-4)29.75
Liver68.55
Lung50.4
Lymphnode33.55
Lymphoma_burkitts(Daudi)51.75
Lymphoma_burkitts(Raji)59.15
MedullaOblongata39.3
OccipitalLobe40.2
OlfactoryBulb40.75
Ovary30.85
Pancreas30.2
PancreaticIslet44.1
ParietalLobe43.9
Pituitary47.35
Placenta40.7
Pons42.75
PrefrontalCortex50.15
Prostate69.6
Salivarygland34.15
SkeletalMuscle56.6
Skin34.25
SmoothMuscle45.05
Spinalcord42.95
SubthalamicNucleus38
SuperiorCervicalGanglion49.75
TemporalLobe37
Testis35
TestisGermCell31.45
TestisIntersitial33.85
TestisLeydigCell40.65
TestisSeminiferousTubule34.65
Thalamus40.85
Thymus30.7
Thyroid50.25
Tongue71.15
Tonsil38.7
Trachea48.65
TrigeminalGanglion43.4
Uterus645.9
UterusCorpus210
WholeBlood42.2
Wholebrain33.5
colon59.35
pineal_day285.42
pineal_night293.5
retina539.45
small_intestine42.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P910310
  • 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
Amygdala2.14 ± 0.98
Basal Forebrain1.61 ± 0.22
Basal Part of Pons1.27 ± 0.4
Cerebellar Cortex1.38 ± 0.61
Cerebellar Nuclei2.05 ± 0.72
Claustrum2.43 ± 0.83
Epithalamus1.56 ± 0.56
Frontal Lobe1.51 ± 0.7
Globus Pallidus2.64 ± 0.76
Hypothalamus1.67 ± 0.72
Insula1.42 ± 0.53
Limbic Lobe1.67 ± 0.69
Mesencephalon1.84 ± 0.76
Myelencephalon1.72 ± 0.72
Occipital Lobe1.7 ± 0.75
Parietal Lobe1.59 ± 0.68
Pontine Tegmentum1.79 ± 0.67
Striatum2.16 ± 0.67
Subthalamus2.01 ± 0.38
Temporal Lobe1.6 ± 0.74
Thalamus1.6 ± 0.64
White Matter2.99 ± 0.92
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
MitfCBCerebellum9.71
11.24
Peptide Top

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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