AutismKB 2.0

Annotation Detail for MFGE8


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Basic Information Top
Gene Symbol:MFGE8 ( BA46,EDIL1,HsT19888,MFG-E8,OAcGD3S,SED1,SPAG10,hP47 )
Gene Full Name: milk fat globule-EGF factor 8 protein
Band: 15q26.1
Quick LinksEntrez ID:4240; OMIM: 602281; Uniprot ID:MFGM_HUMAN; ENSEMBL ID: ENSG00000140545; HGNC ID: 7036
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 body26 / 70761367
blastocyst36 / 62319577
fetus50 / 56401288
neonate1 / 3109732
infant3 / 23620127
juvenile8 / 55556143
adult423 / 1939121218
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma2 / 17475114
breast (mammary gland) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma21 / 82823253
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor17 / 119369142
germ cell tumor104 / 263845394
glioma10 / 10688393
head and neck tumor7 / 13630251
kidney tumor8 / 68959116
leukemia6 / 9584262
liver tumor7 / 9635972
lung tumor10 / 10312796
lymphoma0 / 717550 
non-neoplasia35 / 97250359
normal654 / 3360307194
ovarian tumor31 / 76682404
pancreatic tumor53 / 104616506
primitive neuroectodermal tumor of the CNS23 / 125680183
prostate cancer5 / 10268048
retinoblastoma0 / 463560 
skin tumor23 / 124949184
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor14 / 90257155
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland6 / 33197180
ascites2 / 4001549
bladder5 / 29757168
blood4 / 12347832
bone8 / 71655111
bone marrow13 / 48801266
brain124 / 1100989112
cervix5 / 48171103
connective tissue83 / 149255556
ear0 / 162120 
embryonic tissue77 / 215722356
esophagus3 / 20209148
eye57 / 211054270
heart42 / 89626468
intestine32 / 234472136
kidney23 / 211777108
larynx0 / 241450 
liver8 / 20774338
lung46 / 336974136
lymph0 / 442700 
lymph node2 / 9161021
mammary gland53 / 153271345
mouth4 / 6705259
muscle1 / 1077159
nerve4 / 15768253
ovary38 / 102051372
pancreas61 / 214812283
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta53 / 280825188
prostate14 / 18934573
salivary gland0 / 201550 
skin57 / 210574270
spleen6 / 53952111
stomach12 / 96619124
testis71 / 330442214
thymus14 / 81131172
thyroid7 / 47473147
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus53 / 232878227
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210605_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts51.2
Adipocyte549.3
AdrenalCortex80.25
Adrenalgland45.8
Amygdala36.6
Appendix53.6
AtrioventricularNode75.6
BDCA4+_DentriticCells30.4
Bonemarrow41.55
BronchialEpithelialCells37.55
CD105+_Endothelial44.3
CD14+_Monocytes40.9
CD19+_BCells(neg._sel.)35.05
CD33+_Myeloid41.15
CD34+46.85
CD4+_Tcells47.05
CD56+_NKCells23.3
CD71+_EarlyErythroid42.35
CD8+_Tcells29.3
CardiacMyocytes80.1
Caudatenucleus46.35
Cerebellum27
CerebellumPeduncles63.95
CiliaryGanglion100.35
CingulateCortex46.15
Colorectaladenocarcinoma53.1
DorsalRootGanglion86.2
FetalThyroid51.85
Fetalbrain49.25
Fetalliver29
Fetallung48.75
GlobusPallidus40.5
Heart136.15
Hypothalamus48.4
Kidney45.6
Leukemia_chronicMyelogenousK-56295.1
Leukemia_promyelocytic-HL-6042.25
Leukemialymphoblastic(MOLT-4)58.95
Liver69.2
Lung84.25
Lymphnode65.05
Lymphoma_burkitts(Daudi)46.5
Lymphoma_burkitts(Raji)98.15
MedullaOblongata27.65
OccipitalLobe45.25
OlfactoryBulb67.75
Ovary91.55
Pancreas43.45
PancreaticIslet46.9
ParietalLobe43
Pituitary54.1
Placenta82.2
Pons50.15
PrefrontalCortex77.55
Prostate114.6
Salivarygland28.25
SkeletalMuscle67.3
Skin53.6
SmoothMuscle64.5
Spinalcord62.05
SubthalamicNucleus59.55
SuperiorCervicalGanglion49.6
TemporalLobe49.3
Testis46.65
TestisGermCell65.25
TestisIntersitial54.55
TestisLeydigCell54.55
TestisSeminiferousTubule49.65
Thalamus53.95
Thymus41.35
Thyroid93.8
Tongue56.05
Tonsil51.55
Trachea65.75
TrigeminalGanglion87.35
Uterus238.4
UterusCorpus82
WholeBlood24.75
Wholebrain36.85
colon34.3
pineal_day304.1
pineal_night267.62
retina213.275
small_intestine28.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P48951
  • 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
Amygdala4.51 ± 0.65
Basal Forebrain4.48 ± 0.6
Basal Part of Pons3.83 ± 0.55
Cerebellar Cortex3.91 ± 0.43
Cerebellar Nuclei4.27 ± 0.56
Claustrum3.85 ± 0.9
Epithalamus4.22 ± 0.75
Frontal Lobe4.37 ± 0.48
Globus Pallidus4.17 ± 0.53
Hypothalamus4.14 ± 0.69
Insula4.21 ± 0.35
Limbic Lobe4.11 ± 0.71
Mesencephalon4.41 ± 0.75
Myelencephalon4.27 ± 0.65
Occipital Lobe4.05 ± 0.8
Parietal Lobe4.41 ± 0.53
Pontine Tegmentum4.45 ± 0.59
Striatum5.28 ± 0.55
Subthalamus4.07 ± 0.39
Temporal Lobe4.24 ± 0.59
Thalamus4.35 ± 0.65
White Matter2.95 ± 1.09
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mfge8CBCerebellum17.69
33.4
Mfge8CTXCerebral cortex31.78
26.54
Mfge8HIPHippocampal region29.98
28.99
Mfge8HPFHippocampal formation35.95
31.47
Mfge8HYHypothalamus2.62
1.98
Mfge8LSXLateral septal complex52.65
38.2
Mfge8MBMidbrain4.08
3.7
Mfge8MYMedulla3.39
4.57
Mfge8OLFOlfactory bulb51.09
39.35
Mfge8PPons1.84
2.12
Mfge8PALPallidum8.26
6.87
Mfge8RHPRetrohippocampal region46.6
35.27
Mfge8sAMYStriatum-like amygdalar nuclei44.58
36.33
Mfge8STRStriatum29.63
22.85
Mfge8STRdStriatum dorsal region21.29
17.14
Mfge8STRvStriatum ventral region37.56
25.75
Mfge8THThalamus3.51
3.35
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MFGM_HUMAN_135 13 135 147 MWVTGVVTQGASR PRIDE
MFGM_HUMAN_92 15 92 106 VTFLGLQHWVPELAR PRIDE
PAp00010913 13 207 219 LYPTSCHTACTLR 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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