AutismKB 2.0

Annotation Detail for STOM


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Basic Information Top
Gene Symbol:STOM ( BND7,EPB7,EPB72 )
Gene Full Name: stomatin
Band: 9q33.2
Quick LinksEntrez ID:2040; OMIM: 133090; Uniprot ID:STOM_HUMAN; ENSEMBL ID: ENSG00000148175; HGNC ID: 3383
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
fetus85 / 564012150
neonate15 / 31097482
infant0 / 236200 
juvenile2 / 5555635
adult366 / 1939121188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma4 / 17475228
breast (mammary gland) tumor9 / 9417895
cervical tumor5 / 34366145
chondrosarcoma14 / 82823169
colorectal tumor6 / 11424652
esophageal tumor3 / 17290173
gastrointestinal tumor17 / 119369142
germ cell tumor38 / 263845144
glioma13 / 106883121
head and neck tumor18 / 136302132
kidney tumor8 / 68959116
leukemia25 / 95842260
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia15 / 97250154
normal578 / 3360307172
ovarian tumor1 / 7668213
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor4 / 12494932
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland3 / 3319790
ascites3 / 4001574
bladder4 / 29757134
blood41 / 123478332
bone5 / 7165569
bone marrow3 / 4880161
brain148 / 1100989134
cervix5 / 48171103
connective tissue21 / 149255140
ear4 / 16212246
embryonic tissue10 / 21572246
esophagus3 / 20209148
eye20 / 21105494
heart21 / 89626234
intestine15 / 23447263
kidney28 / 211777132
larynx1 / 2414541
liver33 / 207743158
lung53 / 336974157
lymph0 / 442700 
lymph node2 / 9161021
mammary gland18 / 153271117
mouth14 / 67052208
muscle3 / 10771527
nerve2 / 15768126
ovary2 / 10205119
pancreas9 / 21481241
parathyroid3 / 20539146
pharynx4 / 4132896
pituitary gland2 / 16585120
placenta117 / 280825416
prostate12 / 18934563
salivary gland0 / 201550 
skin26 / 210574123
spleen11 / 53952203
stomach21 / 96619217
testis60 / 330442181
thymus38 / 81131468
thyroid2 / 4747342
tonsil0 / 169990 
trachea17 / 52413324
umbilical cord5 / 13680365
uterus37 / 232878158
vascular19 / 51780366
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201060_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.4
Adipocyte154.5
AdrenalCortex10.05
Adrenalgland9
Amygdala12.55
Appendix26.45
AtrioventricularNode17.2
BDCA4+_DentriticCells6.9
Bonemarrow93.95
BronchialEpithelialCells37.05
CD105+_Endothelial37.95
CD14+_Monocytes9.35
CD19+_BCells(neg._sel.)2.85
CD33+_Myeloid9.35
CD34+17
CD4+_Tcells21.95
CD56+_NKCells72.9
CD71+_EarlyErythroid362.75
CD8+_Tcells22.05
CardiacMyocytes16.6
Caudatenucleus10.4
Cerebellum7.1
CerebellumPeduncles5.5
CiliaryGanglion15.15
CingulateCortex8.1
Colorectaladenocarcinoma2.35
DorsalRootGanglion14.15
FetalThyroid7.85
Fetalbrain5
Fetalliver72.1
Fetallung68.2
GlobusPallidus4.75
Heart11.6
Hypothalamus12.2
Kidney11.7
Leukemia_chronicMyelogenousK-5627.6
Leukemia_promyelocytic-HL-602.7
Leukemialymphoblastic(MOLT-4)2.8
Liver13.65
Lung30.45
Lymphnode19.2
Lymphoma_burkitts(Daudi)7.55
Lymphoma_burkitts(Raji)3.05
MedullaOblongata4.55
OccipitalLobe7.3
OlfactoryBulb40.65
Ovary12.25
Pancreas3.05
PancreaticIslet6.1
ParietalLobe5.2
Pituitary10.4
Placenta93.7
Pons6.15
PrefrontalCortex16.7
Prostate6.95
Salivarygland11.25
SkeletalMuscle4.75
Skin10.75
SmoothMuscle41.05
Spinalcord21.3
SubthalamicNucleus5.7
SuperiorCervicalGanglion8.75
TemporalLobe4.25
Testis6.15
TestisGermCell8.1
TestisIntersitial5.75
TestisLeydigCell9.15
TestisSeminiferousTubule6.55
Thalamus8.65
Thymus7.4
Thyroid10.15
Tongue7.9
Tonsil5.7
Trachea9.25
TrigeminalGanglion7.9
Uterus14.55
UterusCorpus20.2
WholeBlood12.3
Wholebrain6.75
colon14.75
pineal_day16.24
pineal_night9.4
retina39.725
small_intestine14.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P255263
  • 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
Amygdala5.44 ± 0.55
Basal Forebrain5.63 ± 0.29
Basal Part of Pons4.58 ± 0.73
Cerebellar Cortex4.78 ± 0.23
Cerebellar Nuclei5.26 ± 0.78
Claustrum4.44 ± 0.55
Epithalamus5.75 ± 0.55
Frontal Lobe5.15 ± 0.52
Globus Pallidus6.69 ± 0.46
Hypothalamus5.5 ± 0.5
Insula5.3 ± 0.45
Limbic Lobe5.02 ± 0.63
Mesencephalon5.49 ± 0.63
Myelencephalon5.37 ± 0.62
Occipital Lobe5.36 ± 0.43
Parietal Lobe5.11 ± 0.59
Pontine Tegmentum5.52 ± 0.41
Striatum6.58 ± 0.53
Subthalamus4.82 ± 0.23
Temporal Lobe5.23 ± 0.44
Thalamus5.69 ± 0.44
White Matter5.01 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
StomCBCerebellum100
100
StomCTXCerebral cortex100
100
StomHIPHippocampal region100
100
StomHPFHippocampal formation100
100
StomHYHypothalamus77.57
74.76
StomLSXLateral septal complex100
100
StomMBMidbrain61.9
60.96
StomMYMedulla71.4
84.94
StomOLFOlfactory bulb100
100
StomPPons62.76
74.16
StomPALPallidum70.92
73.45
StomRHPRetrohippocampal region100
100
StomsAMYStriatum-like amygdalar nuclei100
87.25
StomSTRStriatum100
84.41
StomSTRdStriatum dorsal region92.93
76.77
StomSTRvStriatum ventral region100
100
StomTHThalamus65.01
59.85
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003038 16 78 93 GPGLFFILPCTDSFIK Peptide Atlas
STOM_HUMAN_125 19 125 143 VQNATLAVANITNADSATR PRIDE
STOM_HUMAN_144 8 144 151 LLAQTTLR PRIDE
STOM_HUMAN_158 33 158 190 NLSQILSDREEIAHNMQSTLDDATDAWGIKVER PRIDE
STOM_HUMAN_195 10 195 204 DVKLPVQLQR PRIDE
STOM_HUMAN_205 10 205 214 AMAAEAEASR PRIDE
STOM_HUMAN_218 14 218 231 AKVIAAEGEMNASR PRIDE
STOM_HUMAN_220 12 220 231 VIAAEGEMNASR PRIDE
STOM_HUMAN_232 19 232 250 ALKEASMVITESPAALQLR PRIDE
STOM_HUMAN_235 16 235 250 EASMVITESPAALQLR PRIDE
STOM_HUMAN_251 12 251 262 YLQTLTTIAAEK PRIDE
STOM_HUMAN_263 20 263 282 NSTIVFPLPIDMLQGIIGAK PRIDE
STOM_HUMAN_77 16 77 92 GPGLFFILPCTDSFIK PRIDE
STOM_HUMAN_97 14 97 110 TISFDIPPQEILTK 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


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