AutismKB 2.0

Annotation Detail for SGSM3


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Basic Information Top
Gene Symbol:SGSM3 ( DKFZp761D051,MAP,RUSC3,RUTBC3 )
Gene Full Name: small G protein signaling modulator 3
Band: 22q13.1
Quick LinksEntrez ID:27352; OMIM: 610440; Uniprot ID:SGSM3_HUMAN; ENSEMBL ID: ENSG00000100359; HGNC ID: 25228
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
blastocyst13 / 62319208
fetus62 / 564012109
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult148 / 193912176
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor10 / 94178106
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor13 / 114246113
esophageal tumor6 / 17290347
gastrointestinal tumor5 / 11936941
germ cell tumor8 / 26384530
glioma13 / 106883121
head and neck tumor6 / 13630244
kidney tumor3 / 6895943
leukemia27 / 95842281
liver tumor1 / 9635910
lung tumor6 / 10312758
lymphoma11 / 71755153
non-neoplasia20 / 97250205
normal207 / 336030761
ovarian tumor2 / 7668226
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS54 / 125680429
prostate cancer4 / 10268038
retinoblastoma2 / 4635643
skin tumor6 / 12494948
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor17 / 90257188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites3 / 4001574
bladder3 / 29757100
blood27 / 123478218
bone3 / 7165541
bone marrow2 / 4880140
brain94 / 110098985
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue21 / 21572297
esophagus6 / 20209296
eye18 / 21105485
heart4 / 8962644
intestine18 / 23447276
kidney7 / 21177733
larynx0 / 241450 
liver3 / 20774314
lung23 / 33697468
lymph6 / 44270135
lymph node5 / 9161054
mammary gland10 / 15327165
mouth6 / 6705289
muscle10 / 10771592
nerve1 / 1576863
ovary5 / 10205148
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta28 / 28082599
prostate5 / 18934526
salivary gland1 / 2015549
skin8 / 21057437
spleen2 / 5395237
stomach3 / 9661931
testis22 / 33044266
thymus4 / 8113149
thyroid0 / 474730 
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus23 / 23287898
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 215519_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.3
Adipocyte6.35
AdrenalCortex6.3
Adrenalgland5
Amygdala6.3
Appendix6.25
AtrioventricularNode4.65
BDCA4+_DentriticCells47.65
Bonemarrow6.15
BronchialEpithelialCells6.3
CD105+_Endothelial6.5
CD14+_Monocytes7.2
CD19+_BCells(neg._sel.)21.9
CD33+_Myeloid15
CD34+8.3
CD4+_Tcells14.85
CD56+_NKCells9.3
CD71+_EarlyErythroid5.5
CD8+_Tcells16.4
CardiacMyocytes9.35
Caudatenucleus5.55
Cerebellum5.05
CerebellumPeduncles7.4
CiliaryGanglion4.45
CingulateCortex6.2
Colorectaladenocarcinoma6
DorsalRootGanglion4.65
FetalThyroid6.15
Fetalbrain7.45
Fetalliver4.75
Fetallung5.5
GlobusPallidus4.65
Heart8.65
Hypothalamus7.1
Kidney5
Leukemia_chronicMyelogenousK-5625.8
Leukemia_promyelocytic-HL-606.3
Leukemialymphoblastic(MOLT-4)5.7
Liver7.95
Lung11
Lymphnode10.65
Lymphoma_burkitts(Daudi)9.1
Lymphoma_burkitts(Raji)12.85
MedullaOblongata5.45
OccipitalLobe5.7
OlfactoryBulb5
Ovary4.5
Pancreas8.45
PancreaticIslet6.8
ParietalLobe6.55
Pituitary7.45
Placenta6.55
Pons5.9
PrefrontalCortex6.8
Prostate12.3
Salivarygland4.85
SkeletalMuscle7.05
Skin4.6
SmoothMuscle8.9
Spinalcord6.8
SubthalamicNucleus5.65
SuperiorCervicalGanglion6.1
TemporalLobe5.15
Testis5.6
TestisGermCell5.05
TestisIntersitial5.35
TestisLeydigCell6.3
TestisSeminiferousTubule5.75
Thalamus6.4
Thymus7.3
Thyroid7.85
Tongue6.15
Tonsil7.1
Trachea6.25
TrigeminalGanglion5.35
Uterus6
UterusCorpus5.25
WholeBlood6.5
Wholebrain5.45
colon6.45
pineal_day7.66
pineal_night7.42
retina6.775
small_intestine6.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P166491
  • 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
Amygdala5.62 ± 0.66
Basal Forebrain5.56 ± 0.51
Basal Part of Pons6.11 ± 0.62
Cerebellar Cortex6.05 ± 0.52
Cerebellar Nuclei5.28 ± 0.68
Claustrum5.46 ± 1.01
Epithalamus5.38 ± 0.82
Frontal Lobe6.05 ± 0.55
Globus Pallidus4.77 ± 0.31
Hypothalamus5.88 ± 0.66
Insula6.18 ± 0.36
Limbic Lobe5.74 ± 0.61
Mesencephalon5.62 ± 0.56
Myelencephalon5.74 ± 0.66
Occipital Lobe5.27 ± 0.65
Parietal Lobe5.78 ± 0.51
Pontine Tegmentum5.65 ± 0.67
Striatum4.97 ± 0.53
Subthalamus5.8 ± 0.72
Temporal Lobe6.08 ± 0.58
Thalamus5.74 ± 0.48
White Matter5.21 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Rutbc3CBCerebellum25.45
36.59
Rutbc3CTXCerebral cortex89.21
81.1
Rutbc3HIPHippocampal region45.4
64.82
Rutbc3HPFHippocampal formation55.34
66.34
Rutbc3HYHypothalamus35.1
29.2
Rutbc3LSXLateral septal complex68.69
63.83
Rutbc3MBMidbrain40.59
38.28
Rutbc3MYMedulla48.83
57.28
Rutbc3OLFOlfactory bulb72.48
69.04
Rutbc3PPons53.46
59.89
Rutbc3PALPallidum50.24
55.15
Rutbc3RHPRetrohippocampal region71.79
69.6
Rutbc3sAMYStriatum-like amygdalar nuclei39.39
32.55
Rutbc3STRStriatum59.53
49.88
Rutbc3STRdStriatum dorsal region56.39
47.02
Rutbc3STRvStriatum ventral region63.39
56.9
Rutbc3THThalamus48.63
43.44
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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