AutismKB 2.0

Annotation Detail for HMGCS1


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Basic Information Top
Gene Symbol:HMGCS1 ( HMGCS,MGC90332 )
Gene Full Name: 3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)
Band: 5p12
Quick LinksEntrez ID:3157; OMIM: 142940; Uniprot ID:HMCS1_HUMAN; ENSEMBL ID: ENSG00000112972; HGNC ID: 5007
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 body20 / 70761282
blastocyst2 / 6231932
fetus141 / 564012249
neonate2 / 3109764
infant2 / 2362084
juvenile13 / 55556233
adult141 / 193912172
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma8 / 17475457
breast (mammary gland) tumor10 / 94178106
cervical tumor0 / 343660 
chondrosarcoma10 / 82823120
colorectal tumor4 / 11424635
esophageal tumor4 / 17290231
gastrointestinal tumor6 / 11936950
germ cell tumor39 / 263845147
glioma3 / 10688328
head and neck tumor27 / 136302198
kidney tumor6 / 6895987
leukemia3 / 9584231
liver tumor20 / 96359207
lung tumor5 / 10312748
lymphoma3 / 7175541
non-neoplasia2 / 9725020
normal424 / 3360307126
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS10 / 12568079
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites0 / 400150 
bladder4 / 29757134
blood8 / 12347864
bone11 / 71655153
bone marrow1 / 4880120
brain242 / 1100989219
cervix0 / 481710 
connective tissue5 / 14925533
ear4 / 16212246
embryonic tissue42 / 215722194
esophagus4 / 20209197
eye5 / 21105423
heart4 / 8962644
intestine12 / 23447251
kidney13 / 21177761
larynx2 / 2414582
liver44 / 207743211
lung20 / 33697459
lymph3 / 4427067
lymph node2 / 9161021
mammary gland11 / 15327171
mouth27 / 67052402
muscle3 / 10771527
nerve5 / 15768317
ovary1 / 1020519
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta20 / 28082571
prostate5 / 18934526
salivary gland0 / 201550 
skin22 / 210574104
spleen3 / 5395255
stomach7 / 9661972
testis41 / 330442124
thymus6 / 8113173
thyroid1 / 4747321
tonsil0 / 169990 
trachea18 / 52413343
umbilical cord0 / 136800 
uterus14 / 23287860
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221750_at
Cell line Expression level Expression bar
721_B_lymphoblasts635.45
Adipocyte110.55
AdrenalCortex311.4
Adrenalgland85.15
Amygdala135.15
Appendix26.8
AtrioventricularNode33.8
BDCA4+_DentriticCells37.3
Bonemarrow23.4
BronchialEpithelialCells1086.9
CD105+_Endothelial43.55
CD14+_Monocytes46.15
CD19+_BCells(neg._sel.)67.65
CD33+_Myeloid43.95
CD34+70.4
CD4+_Tcells32.95
CD56+_NKCells81.7
CD71+_EarlyErythroid21.6
CD8+_Tcells24.85
CardiacMyocytes32.9
Caudatenucleus38.7
Cerebellum20.1
CerebellumPeduncles48.3
CiliaryGanglion35.25
CingulateCortex69.15
Colorectaladenocarcinoma26.4
DorsalRootGanglion35.65
FetalThyroid28.4
Fetalbrain506.05
Fetalliver594.35
Fetallung221.9
GlobusPallidus64.7
Heart29.3
Hypothalamus256.5
Kidney27.05
Leukemia_chronicMyelogenousK-562767.9
Leukemia_promyelocytic-HL-60309.95
Leukemialymphoblastic(MOLT-4)399.7
Liver27.85
Lung20.65
Lymphnode20.85
Lymphoma_burkitts(Daudi)194.6
Lymphoma_burkitts(Raji)112.35
MedullaOblongata61.7
OccipitalLobe180.75
OlfactoryBulb26.5
Ovary16.1
Pancreas35.45
PancreaticIslet39.55
ParietalLobe90.45
Pituitary39.6
Placenta27.1
Pons51.75
PrefrontalCortex244.8
Prostate46.4
Salivarygland22.45
SkeletalMuscle41.9
Skin40.7
SmoothMuscle26.2
Spinalcord127.05
SubthalamicNucleus73.5
SuperiorCervicalGanglion48.5
TemporalLobe74.3
Testis18.5
TestisGermCell55.6
TestisIntersitial43.5
TestisLeydigCell49.3
TestisSeminiferousTubule28.05
Thalamus144.15
Thymus15.5
Thyroid30.1
Tongue57.7
Tonsil43.05
Trachea23.2
TrigeminalGanglion50.05
Uterus17.3
UterusCorpus27.85
WholeBlood27.3
Wholebrain56.4
colon180.45
pineal_day124.94
pineal_night115.5
retina83.475
small_intestine163.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P133263
  • 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
Amygdala7.6 ± 0.57
Basal Forebrain7.31 ± 0.54
Basal Part of Pons7.7 ± 0.27
Cerebellar Cortex7.12 ± 0.26
Cerebellar Nuclei7.27 ± 0.4
Claustrum8.45 ± 0.27
Epithalamus6.98 ± 0.84
Frontal Lobe7.87 ± 0.45
Globus Pallidus6.58 ± 0.78
Hypothalamus7.75 ± 0.51
Insula7.79 ± 0.2
Limbic Lobe7.8 ± 0.61
Mesencephalon7.32 ± 0.56
Myelencephalon7.57 ± 0.64
Occipital Lobe7.15 ± 0.64
Parietal Lobe7.51 ± 0.61
Pontine Tegmentum7.7 ± 0.69
Striatum6.69 ± 0.85
Subthalamus7.31 ± 0.32
Temporal Lobe7.87 ± 0.37
Thalamus7.59 ± 0.55
White Matter7.14 ± 1
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hmgcs1CBCerebellum75.67
75.58
Hmgcs1CTXCerebral cortex100
100
Hmgcs1HIPHippocampal region100
100
Hmgcs1HPFHippocampal formation100
100
Hmgcs1HYHypothalamus100
100
Hmgcs1LSXLateral septal complex93.29
68.32
Hmgcs1MBMidbrain100
100
Hmgcs1MYMedulla100
100
Hmgcs1OLFOlfactory bulb100
100
Hmgcs1PPons100
100
Hmgcs1PALPallidum100
97.19
Hmgcs1RHPRetrohippocampal region100
100
Hmgcs1sAMYStriatum-like amygdalar nuclei100
100
Hmgcs1STRStriatum77.39
62.68
Hmgcs1STRdStriatum dorsal region69.63
61.83
Hmgcs1STRvStriatum ventral region73.96
46.8
Hmgcs1THThalamus100
94.87
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HMCS1_HUMAN_170 22 170 191 PTGGVGAVALLIGPNAPLIFER PRIDE
HMCS1_HUMAN_278 12 278 289 MLLNDFLNDQNR PRIDE
HMCS1_HUMAN_369 18 369 386 IGVFSYGSGLAATLYSLK PRIDE
HMCS1_HUMAN_387 22 387 408 VTQDATPGSALDKITASLCDLK PRIDE
HMCS1_HUMAN_415 13 415 427 TGVAPDVFAENMK PRIDE
HMCS1_HUMAN_468 30 468 497 RPTPNDDTLDEGVGLVHSNIATEHIPSPAK PRIDE
PAp00002033 23 247 269 EGNDKDFTLNDFGFMIFHSPYCK 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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