AutismKB 2.0

Annotation Detail for AMACR


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Basic Information Top
Gene Symbol:AMACR ( CBAS4,RACE,RM )
Gene Full Name: alpha-methylacyl-CoA racemase
Band: 5p13.2
Quick LinksEntrez ID:23600; OMIM: 604489; Uniprot ID:AMACR_HUMAN; ENSEMBL ID: ENSG00000082196,ENSG00000242110; HGNC ID: 451
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 body0 / 707610 
blastocyst5 / 6231980
fetus14 / 56401224
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult111 / 193912157
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor9 / 26384534
glioma0 / 1068830 
head and neck tumor7 / 13630251
kidney tumor10 / 68959145
leukemia6 / 9584262
liver tumor6 / 9635962
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia4 / 9725041
normal105 / 336030731
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer64 / 102680623
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder3 / 29757100
blood5 / 12347840
bone2 / 7165527
bone marrow1 / 4880120
brain36 / 110098932
cervix5 / 48171103
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye6 / 21105428
heart2 / 8962622
intestine11 / 23447246
kidney51 / 211777240
larynx1 / 2414541
liver12 / 20774357
lung12 / 33697435
lymph1 / 4427022
lymph node1 / 9161010
mammary gland3 / 15327119
mouth1 / 6705214
muscle4 / 10771537
nerve1 / 1576863
ovary0 / 1020510 
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta8 / 28082528
prostate65 / 189345343
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach5 / 9661951
testis17 / 33044251
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209425_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.95
Adipocyte4.75
AdrenalCortex5.45
Adrenalgland4.15
Amygdala5
Appendix5.2
AtrioventricularNode4.05
BDCA4+_DentriticCells5.3
Bonemarrow5
BronchialEpithelialCells4.8
CD105+_Endothelial4.85
CD14+_Monocytes5.25
CD19+_BCells(neg._sel.)5.2
CD33+_Myeloid6.05
CD34+6.1
CD4+_Tcells5.15
CD56+_NKCells5.6
CD71+_EarlyErythroid4.5
CD8+_Tcells4.55
CardiacMyocytes6.6
Caudatenucleus4.4
Cerebellum3.95
CerebellumPeduncles6.1
CiliaryGanglion6.25
CingulateCortex4.95
Colorectaladenocarcinoma4.85
DorsalRootGanglion6
FetalThyroid4.7
Fetalbrain4.75
Fetalliver4.2
Fetallung3.9
GlobusPallidus3.65
Heart6.75
Hypothalamus5.2
Kidney4.45
Leukemia_chronicMyelogenousK-5624.35
Leukemia_promyelocytic-HL-604.25
Leukemialymphoblastic(MOLT-4)3.8
Liver6.85
Lung5.25
Lymphnode4.15
Lymphoma_burkitts(Daudi)6.3
Lymphoma_burkitts(Raji)7.1
MedullaOblongata4.35
OccipitalLobe4.35
OlfactoryBulb3.85
Ovary3.35
Pancreas3.9
PancreaticIslet5.2
ParietalLobe5.25
Pituitary5.6
Placenta4.9
Pons4.7
PrefrontalCortex5.95
Prostate5.6
Salivarygland4
SkeletalMuscle6.05
Skin4.15
SmoothMuscle5.35
Spinalcord5.15
SubthalamicNucleus4.75
SuperiorCervicalGanglion5.85
TemporalLobe4.45
Testis4.15
TestisGermCell3.9
TestisIntersitial4.1
TestisLeydigCell4.85
TestisSeminiferousTubule4.1
Thalamus4.95
Thymus3.75
Thyroid5.95
Tongue5.2
Tonsil4.7
Trachea4
TrigeminalGanglion5.25
Uterus3.85
UterusCorpus4.5
WholeBlood5.35
Wholebrain3.9
colon4.9
pineal_day5.96
pineal_night5.94
retina5.825
small_intestine4.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16935_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
Amygdala5.66 ± 0.41
Basal Forebrain5.68 ± 0.36
Basal Part of Pons5.55 ± 0.41
Cerebellar Cortex5.59 ± 0.36
Cerebellar Nuclei5.76 ± 0.52
Claustrum6.04 ± 0.58
Epithalamus5.59 ± 0.36
Frontal Lobe5.49 ± 0.39
Globus Pallidus5.52 ± 0.54
Hypothalamus5.74 ± 0.36
Insula5.41 ± 0.37
Limbic Lobe5.46 ± 0.48
Mesencephalon5.54 ± 0.55
Myelencephalon5.5 ± 0.43
Occipital Lobe5.59 ± 0.43
Parietal Lobe5.64 ± 0.42
Pontine Tegmentum5.71 ± 0.38
Striatum5.14 ± 0.37
Subthalamus6.01 ± 0.28
Temporal Lobe5.65 ± 0.37
Thalamus5.61 ± 0.46
White Matter4.73 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AmacrCBCerebellum0
0
AmacrCTXCerebral cortex0
0
AmacrHIPHippocampal region0
0
AmacrHPFHippocampal formation0
0
AmacrHYHypothalamus0
0
AmacrLSXLateral septal complex0
0
AmacrMBMidbrain0
0
AmacrMYMedulla0
0
AmacrOLFOlfactory bulb0
0
AmacrPPons0
0
AmacrPALPallidum0
0
AmacrRHPRetrohippocampal region0
0
AmacrsAMYStriatum-like amygdalar nuclei0
0
AmacrSTRStriatum0
0
AmacrSTRdStriatum dorsal region0
0
AmacrSTRvStriatum ventral region0
0
AmacrTHThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00095318 30 281 310 AEWCQIFDGTDACVTPVLTFEEVVHHDHNK 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