AutismKB 2.0

Annotation Detail for MAFB


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Basic Information Top
Gene Symbol:MAFB ( KRML,MGC43127 )
Gene Full Name: v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian)
Band: 20q12
Quick LinksEntrez ID:9935; OMIM: 608968; Uniprot ID:MAFB_HUMAN; ENSEMBL ID: ENSG00000204103; HGNC ID: 6408
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 
blastocyst1 / 6231916
fetus50 / 56401288
neonate8 / 31097257
infant0 / 236200 
juvenile10 / 55556179
adult88 / 193912145
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 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor41 / 263845155
glioma2 / 10688318
head and neck tumor23 / 136302168
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia33 / 97250339
normal262 / 336030777
ovarian tumor2 / 7668226
pancreatic tumor27 / 104616258
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood18 / 123478145
bone3 / 7165541
bone marrow1 / 4880120
brain54 / 110098949
cervix0 / 481710 
connective tissue35 / 149255234
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye6 / 21105428
heart4 / 8962644
intestine5 / 23447221
kidney15 / 21177770
larynx0 / 241450 
liver7 / 20774333
lung13 / 33697438
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth30 / 67052447
muscle2 / 10771518
nerve1 / 1576863
ovary3 / 10205129
pancreas62 / 214812288
parathyroid5 / 20539243
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta7 / 28082524
prostate2 / 18934510
salivary gland0 / 201550 
skin8 / 21057437
spleen67 / 539521241
stomach3 / 9661931
testis17 / 33044251
thymus5 / 8113161
thyroid2 / 4747342
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus6 / 23287825
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218559_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6
Adipocyte188.2
AdrenalCortex5.55
Adrenalgland18.35
Amygdala7.5
Appendix5.4
AtrioventricularNode4.15
BDCA4+_DentriticCells220.8
Bonemarrow33.8
BronchialEpithelialCells4.9
CD105+_Endothelial128
CD14+_Monocytes1044.25
CD19+_BCells(neg._sel.)5.25
CD33+_Myeloid1539.25
CD34+6.2
CD4+_Tcells5.3
CD56+_NKCells350.4
CD71+_EarlyErythroid4.5
CD8+_Tcells4.7
CardiacMyocytes6.95
Caudatenucleus4.45
Cerebellum3.95
CerebellumPeduncles5.6
CiliaryGanglion6.7
CingulateCortex5.2
Colorectaladenocarcinoma5.1
DorsalRootGanglion3.95
FetalThyroid27.35
Fetalbrain94.75
Fetalliver29.5
Fetallung34.45
GlobusPallidus3.8
Heart69.6
Hypothalamus5.75
Kidney15.5
Leukemia_chronicMyelogenousK-5624.45
Leukemia_promyelocytic-HL-604.35
Leukemialymphoblastic(MOLT-4)3.9
Liver310.35
Lung371.45
Lymphnode93.6
Lymphoma_burkitts(Daudi)6.35
Lymphoma_burkitts(Raji)7.6
MedullaOblongata4.55
OccipitalLobe5.05
OlfactoryBulb3.95
Ovary3.4
Pancreas4.3
PancreaticIslet75.25
ParietalLobe5.5
Pituitary5.85
Placenta125.05
Pons4.85
PrefrontalCortex7.35
Prostate58.55
Salivarygland9.25
SkeletalMuscle5.8
Skin10.25
SmoothMuscle5.6
Spinalcord7.9
SubthalamicNucleus4.7
SuperiorCervicalGanglion7.65
TemporalLobe4.65
Testis4.5
TestisGermCell4.95
TestisIntersitial4.2
TestisLeydigCell4.95
TestisSeminiferousTubule4.2
Thalamus5.15
Thymus66.15
Thyroid412.75
Tongue47.55
Tonsil27.2
Trachea34.35
TrigeminalGanglion5.3
Uterus14.25
UterusCorpus6.75
WholeBlood219.25
Wholebrain98.75
colon14.4
pineal_day6.12
pineal_night5.94
retina46.375
small_intestine84.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16019_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
Amygdala3.26 ± 0.66
Basal Forebrain2.89 ± 0.57
Basal Part of Pons3 ± 0.82
Cerebellar Cortex2.71 ± 0.7
Cerebellar Nuclei3 ± 0.68
Claustrum3.71 ± 0.85
Epithalamus2.7 ± 0.76
Frontal Lobe3.06 ± 0.74
Globus Pallidus3.3 ± 0.69
Hypothalamus2.41 ± 0.62
Insula2.86 ± 0.72
Limbic Lobe3.07 ± 0.77
Mesencephalon2.97 ± 0.79
Myelencephalon3.07 ± 0.76
Occipital Lobe2.78 ± 0.79
Parietal Lobe3.17 ± 0.72
Pontine Tegmentum2.98 ± 0.77
Striatum2.6 ± 1.05
Subthalamus3.05 ± 0.31
Temporal Lobe3.09 ± 0.66
Thalamus2.9 ± 0.71
White Matter2.69 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
MafbCBCerebellum9.14
12
MafbCTXCerebral cortex40.23
39.91
MafbHIPHippocampal region14.44
18.8
MafbHPFHippocampal formation24.35
26.3
MafbHYHypothalamus7.99
6.06
MafbLSXLateral septal complex2.98
2.93
MafbMBMidbrain6.21
6.45
MafbMYMedulla15.33
21.34
MafbOLFOlfactory bulb21.03
19.85
MafbPPons9.77
12.22
MafbPALPallidum8.4
8.68
MafbRHPRetrohippocampal region39.79
35.73
MafbsAMYStriatum-like amygdalar nuclei12.52
10.51
MafbSTRStriatum11.11
11.42
MafbSTRdStriatum dorsal region11.6
13.1
MafbSTRvStriatum ventral region11.31
9.36
MafbTHThalamus5.52
5.74
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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