AutismKB 2.0

Annotation Detail for SMG6


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Basic Information Top
Gene Symbol:SMG6 ( C17orf31,EST1A,KIAA0732,SMG-6 )
Gene Full Name: Smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
Band: 17p13.3
Quick LinksEntrez ID:23293; OMIM: 610963; Uniprot ID:EST1A_HUMAN; ENSEMBL ID: ENSG00000070366; HGNC ID: 17809
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 body2 / 7076128
blastocyst2 / 6231932
fetus32 / 56401256
neonate11 / 31097353
infant0 / 236200 
juvenile0 / 555560 
adult95 / 193912148
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma7 / 8282384
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor17 / 26384564
glioma4 / 10688337
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal140 / 336030741
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone0 / 716550 
bone marrow1 / 4880120
brain36 / 110098932
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye16 / 21105475
heart4 / 8962644
intestine4 / 23447217
kidney6 / 21177728
larynx2 / 2414582
liver4 / 20774319
lung17 / 33697450
lymph1 / 4427022
lymph node1 / 9161010
mammary gland6 / 15327139
mouth1 / 6705214
muscle5 / 10771546
nerve1 / 1576863
ovary4 / 10205139
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta15 / 28082553
prostate7 / 18934536
salivary gland0 / 201550 
skin5 / 21057423
spleen3 / 5395255
stomach3 / 9661931
testis16 / 33044248
thymus9 / 81131110
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord20 / 136801461
uterus16 / 23287868
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214940_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.9
Adipocyte6.95
AdrenalCortex7.15
Adrenalgland5.85
Amygdala7.45
Appendix6.95
AtrioventricularNode5.2
BDCA4+_DentriticCells7.85
Bonemarrow6.8
BronchialEpithelialCells6.95
CD105+_Endothelial7.15
CD14+_Monocytes7.5
CD19+_BCells(neg._sel.)7.55
CD33+_Myeloid8.4
CD34+8.95
CD4+_Tcells7.8
CD56+_NKCells7.95
CD71+_EarlyErythroid6.6
CD8+_Tcells6.85
CardiacMyocytes9.2
Caudatenucleus6.3
Cerebellum5.65
CerebellumPeduncles8.2
CiliaryGanglion4.8
CingulateCortex9.65
Colorectaladenocarcinoma8.25
DorsalRootGanglion5.15
FetalThyroid6.85
Fetalbrain7.05
Fetalliver6
Fetallung5.85
GlobusPallidus5.05
Heart9
Hypothalamus7.65
Kidney5.55
Leukemia_chronicMyelogenousK-5626.25
Leukemia_promyelocytic-HL-605.85
Leukemialymphoblastic(MOLT-4)5.55
Liver9.5
Lung7.9
Lymphnode6.05
Lymphoma_burkitts(Daudi)8.4
Lymphoma_burkitts(Raji)9.75
MedullaOblongata6.45
OccipitalLobe6.35
OlfactoryBulb5.55
Ovary4.65
Pancreas5.6
PancreaticIslet7.5
ParietalLobe7.25
Pituitary8.25
Placenta7.25
Pons6.65
PrefrontalCortex8.9
Prostate8.3
Salivarygland5.2
SkeletalMuscle8.15
Skin5.25
SmoothMuscle8.05
Spinalcord7.55
SubthalamicNucleus6.3
SuperiorCervicalGanglion8.15
TemporalLobe6.35
Testis6.65
TestisGermCell5.9
TestisIntersitial5.85
TestisLeydigCell6.9
TestisSeminiferousTubule6.85
Thalamus7.55
Thymus6.45
Thyroid8.95
Tongue6.75
Tonsil6.85
Trachea5.8
TrigeminalGanglion6.85
Uterus5.8
UterusCorpus6.2
WholeBlood7.65
Wholebrain6
colon7.1
pineal_day14.6
pineal_night11.08
retina8.575
small_intestine6.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P4014
  • 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
Amygdala7.99 ± 0.21
Basal Forebrain8.09 ± 0.23
Basal Part of Pons7.78 ± 0.21
Cerebellar Cortex8.18 ± 0.14
Cerebellar Nuclei7.79 ± 0.22
Claustrum8.1 ± 0.25
Epithalamus8.16 ± 0.22
Frontal Lobe7.79 ± 0.28
Globus Pallidus8.31 ± 0.32
Hypothalamus7.91 ± 0.15
Insula7.86 ± 0.31
Limbic Lobe7.95 ± 0.35
Mesencephalon7.92 ± 0.3
Myelencephalon7.94 ± 0.26
Occipital Lobe8.22 ± 0.31
Parietal Lobe7.91 ± 0.23
Pontine Tegmentum7.91 ± 0.26
Striatum7.91 ± 0.28
Subthalamus7.9 ± 0.1
Temporal Lobe7.91 ± 0.24
Thalamus7.85 ± 0.22
White Matter8.58 ± 0.09
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smg6CBCerebellum7.56
7.82
Smg6CTXCerebral cortex17.8
11.67
Smg6HIPHippocampal region19.6
17.54
Smg6HPFHippocampal formation18.87
15.3
Smg6HYHypothalamus4.17
2.94
Smg6LSXLateral septal complex4.34
2.94
Smg6MBMidbrain8.84
7.53
Smg6MYMedulla23.53
24.51
Smg6OLFOlfactory bulb12.95
8.44
Smg6PPons11.79
11.09
Smg6PALPallidum7.1
5.63
Smg6RHPRetrohippocampal region17
11.46
Smg6sAMYStriatum-like amygdalar nuclei8.7
5.26
Smg6STRStriatum4.72
2.98
Smg6STRdStriatum dorsal region4.45
2.91
Smg6STRvStriatum ventral region3.79
2.14
Smg6THThalamus4.89
3.68
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EST1A_HUMAN_30 12 30 41 ENMKELKEARPR PRIDE
PAp00097331 17 1133 1149 YFLEALCGQEEPLLAFK 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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