AutismKB 2.0

Annotation Detail for MEGF6


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Basic Information Top
Gene Symbol:MEGF6 ( EGFL3,KIAA0815 )
Gene Full Name: multiple EGF-like-domains 6
Band: 1p36.32
Quick LinksEntrez ID:1953; OMIM: 604266; Uniprot ID:MEGF6_HUMAN; ENSEMBL ID: ENSG00000162591; HGNC ID: 3232
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 body3 / 7076142
blastocyst5 / 6231980
fetus21 / 56401237
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult35 / 193912118
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal75 / 336030722
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye14 / 21105466
heart7 / 8962678
intestine7 / 23447229
kidney5 / 21177723
larynx2 / 2414582
liver2 / 2077439
lung10 / 33697429
lymph0 / 442700 
lymph node0 / 916100 
mammary gland4 / 15327126
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate3 / 18934515
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213942_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.95
Adipocyte3.9
AdrenalCortex4.15
Adrenalgland3.3
Amygdala4.1
Appendix4
AtrioventricularNode3.05
BDCA4+_DentriticCells4.35
Bonemarrow3.95
BronchialEpithelialCells3.95
CD105+_Endothelial5
CD14+_Monocytes4.35
CD19+_BCells(neg._sel.)4.3
CD33+_Myeloid5.1
CD34+8.3
CD4+_Tcells10.55
CD56+_NKCells4.8
CD71+_EarlyErythroid4.15
CD8+_Tcells6.5
CardiacMyocytes5.15
Caudatenucleus3.5
Cerebellum3.15
CerebellumPeduncles4.45
CiliaryGanglion2.75
CingulateCortex4
Colorectaladenocarcinoma6.3
DorsalRootGanglion3
FetalThyroid3.8
Fetalbrain3.9
Fetalliver3.45
Fetallung7.1
GlobusPallidus2.85
Heart5.25
Hypothalamus4.25
Kidney3.2
Leukemia_chronicMyelogenousK-5623.55
Leukemia_promyelocytic-HL-603.5
Leukemialymphoblastic(MOLT-4)3.15
Liver5.3
Lung12.95
Lymphnode3.5
Lymphoma_burkitts(Daudi)5
Lymphoma_burkitts(Raji)5.6
MedullaOblongata3.55
OccipitalLobe3.5
OlfactoryBulb3.1
Ovary2.6
Pancreas3.15
PancreaticIslet4.2
ParietalLobe4.15
Pituitary4.55
Placenta4
Pons3.7
PrefrontalCortex4.85
Prostate5.7
Salivarygland3.1
SkeletalMuscle4.55
Skin3.1
SmoothMuscle4.5
Spinalcord4.2
SubthalamicNucleus3.55
SuperiorCervicalGanglion4.45
TemporalLobe3.55
Testis3.4
TestisGermCell3.35
TestisIntersitial3.3
TestisLeydigCell3.85
TestisSeminiferousTubule3.4
Thalamus4
Thymus3.15
Thyroid5.05
Tongue3.95
Tonsil3.8
Trachea3.3
TrigeminalGanglion3.95
Uterus3.25
UterusCorpus3.7
WholeBlood4.75
Wholebrain3.35
colon3.95
pineal_day4.94
pineal_night4.92
retina5.275
small_intestine3.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P926960
  • 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
Amygdala2.18 ± 0.87
Basal Forebrain1.62 ± 0.31
Basal Part of Pons1.95 ± 0.64
Cerebellar Cortex1.52 ± 0.53
Cerebellar Nuclei2.06 ± 0.61
Claustrum2.44 ± 0.72
Epithalamus2.45 ± 0.27
Frontal Lobe1.8 ± 0.75
Globus Pallidus2.7 ± 0.69
Hypothalamus1.86 ± 0.82
Insula1.68 ± 0.73
Limbic Lobe1.8 ± 0.67
Mesencephalon1.98 ± 0.73
Myelencephalon1.92 ± 0.66
Occipital Lobe1.71 ± 0.61
Parietal Lobe1.97 ± 0.82
Pontine Tegmentum1.83 ± 0.74
Striatum2.16 ± 0.65
Subthalamus2.21 ± 1.07
Temporal Lobe1.69 ± 0.71
Thalamus2.06 ± 0.69
White Matter2.39 ± 0.8
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Megf6CBCerebellum0.43
0.95
Megf6CTXCerebral cortex0.79
1.22
Megf6HIPHippocampal region1.3
1.2
Megf6HPFHippocampal formation1.29
1.13
Megf6HYHypothalamus0.75
0.51
Megf6LSXLateral septal complex0.68
0.75
Megf6MBMidbrain0.57
1.35
Megf6MYMedulla0.22
0.53
Megf6OLFOlfactory bulb0.44
1.54
Megf6PPons0.75
1.51
Megf6PALPallidum0.55
0.37
Megf6RHPRetrohippocampal region1.3
1.07
Megf6sAMYStriatum-like amygdalar nuclei5.25
3.35
Megf6STRStriatum0.73
0.52
Megf6STRdStriatum dorsal region0.28
0.2
Megf6STRvStriatum ventral region0.22
0.27
Megf6THThalamus0.27
0.26
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