AutismKB 2.0

Annotation Detail for SMG7


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SMG7 ( C1orf16,EST1C,FLJ23717,KIAA0250,SGA56M )
Gene Full Name: Smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)
Band: 1q25.3
Quick LinksEntrez ID:9887; OMIM: 610964; Uniprot ID:SMG7_HUMAN; ENSEMBL ID: ENSG00000116698; HGNC ID: 16792
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
blastocyst6 / 6231996
fetus44 / 56401278
neonate1 / 3109732
infant4 / 23620169
juvenile6 / 55556107
adult156 / 193912180
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) tumor4 / 9417842
cervical tumor10 / 34366290
chondrosarcoma9 / 82823108
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor31 / 263845117
glioma5 / 10688346
head and neck tumor13 / 13630295
kidney tumor2 / 6895929
leukemia18 / 95842187
liver tumor14 / 96359145
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia7 / 9725071
normal246 / 336030773
ovarian tumor12 / 76682156
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer27 / 102680262
retinoblastoma2 / 4635643
skin tumor7 / 12494956
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder4 / 29757134
blood15 / 123478121
bone9 / 71655125
bone marrow2 / 4880140
brain62 / 110098956
cervix10 / 48171207
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye12 / 21105456
heart3 / 8962633
intestine19 / 23447281
kidney8 / 21177737
larynx2 / 2414582
liver22 / 207743105
lung16 / 33697447
lymph1 / 4427022
lymph node29 / 91610316
mammary gland7 / 15327145
mouth5 / 6705274
muscle5 / 10771546
nerve1 / 1576863
ovary10 / 10205197
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta24 / 28082585
prostate27 / 189345142
salivary gland1 / 2015549
skin18 / 21057485
spleen3 / 5395255
stomach1 / 9661910
testis56 / 330442169
thymus2 / 8113124
thyroid9 / 47473189
tonsil1 / 1699958
trachea4 / 5241376
umbilical cord0 / 136800 
uterus17 / 23287872
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201793_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.5
Adipocyte5.75
AdrenalCortex6
Adrenalgland5.1
Amygdala6.2
Appendix6.3
AtrioventricularNode4.55
BDCA4+_DentriticCells7.3
Bonemarrow5.85
BronchialEpithelialCells5.75
CD105+_Endothelial5.8
CD14+_Monocytes6.15
CD19+_BCells(neg._sel.)5.95
CD33+_Myeloid7.2
CD34+6.85
CD4+_Tcells6.25
CD56+_NKCells6.65
CD71+_EarlyErythroid5.6
CD8+_Tcells5.45
CardiacMyocytes7.6
Caudatenucleus5.25
Cerebellum4.75
CerebellumPeduncles6.65
CiliaryGanglion4.1
CingulateCortex6
Colorectaladenocarcinoma5.9
DorsalRootGanglion4.5
FetalThyroid5.7
Fetalbrain5.85
Fetalliver5.05
Fetallung4.9
GlobusPallidus4.3
Heart7.55
Hypothalamus6.3
Kidney5.05
Leukemia_chronicMyelogenousK-5625.3
Leukemia_promyelocytic-HL-605.1
Leukemialymphoblastic(MOLT-4)4.7
Liver8.05
Lung6.5
Lymphnode5.05
Lymphoma_burkitts(Daudi)7.4
Lymphoma_burkitts(Raji)8.2
MedullaOblongata5.4
OccipitalLobe5.3
OlfactoryBulb4.6
Ovary4
Pancreas4.65
PancreaticIslet6.25
ParietalLobe6.5
Pituitary7
Placenta5.95
Pons7.1
PrefrontalCortex6.85
Prostate6.85
Salivarygland4.7
SkeletalMuscle7.2
Skin4.5
SmoothMuscle6.65
Spinalcord6.2
SubthalamicNucleus5.35
SuperiorCervicalGanglion6.9
TemporalLobe5.5
Testis6.3
TestisGermCell4.85
TestisIntersitial5.1
TestisLeydigCell6.1
TestisSeminiferousTubule5.05
Thalamus5.95
Thymus4.7
Thyroid7.3
Tongue5.9
Tonsil5.65
Trachea4.9
TrigeminalGanglion6.35
Uterus4.75
UterusCorpus5.95
WholeBlood6.45
Wholebrain4.95
colon5.9
pineal_day7.26
pineal_night7.14
retina7
small_intestine5.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7321_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
Amygdala5.13 ± 0.92
Basal Forebrain5.14 ± 0.33
Basal Part of Pons5.23 ± 0.49
Cerebellar Cortex5.49 ± 0.23
Cerebellar Nuclei4.91 ± 0.55
Claustrum4.55 ± 0.68
Epithalamus5.38 ± 0.42
Frontal Lobe5.09 ± 0.47
Globus Pallidus4.35 ± 0.51
Hypothalamus4.68 ± 0.44
Insula5.15 ± 0.42
Limbic Lobe5.2 ± 0.44
Mesencephalon5.06 ± 0.51
Myelencephalon5.09 ± 0.53
Occipital Lobe5.12 ± 0.41
Parietal Lobe5.23 ± 0.4
Pontine Tegmentum5.08 ± 0.4
Striatum4.8 ± 0.5
Subthalamus5.12 ± 0.2
Temporal Lobe5.29 ± 0.39
Thalamus5.03 ± 0.38
White Matter4.91 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Smg7CBCerebellum57.28
72.17
Smg7CTXCerebral cortex100
77.26
Smg7HIPHippocampal region60.79
78.68
Smg7HPFHippocampal formation69.45
73.72
Smg7HYHypothalamus43.92
32.07
Smg7LSXLateral septal complex59.5
40.48
Smg7MBMidbrain49.16
41.36
Smg7MYMedulla47.79
49.06
Smg7OLFOlfactory bulb84.69
71.43
Smg7PPons43.9
41.78
Smg7PALPallidum32.43
25.76
Smg7RHPRetrohippocampal region83.28
67.89
Smg7sAMYStriatum-like amygdalar nuclei40.37
26.95
Smg7STRStriatum53.66
35.74
Smg7STRdStriatum dorsal region53.68
35.74
Smg7STRvStriatum ventral region60.72
39.6
Smg7THThalamus49.4
39.15
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
SMG7_HUMAN_2 9 2 10 SLQSAQYLR PRIDE

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