AutismKB 2.0

Annotation Detail for BCAT1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:BCAT1 ( BCATC,BCT1,DKFZp686E12175,ECA39,MECA39,PNAS121,PP18 )
Gene Full Name: branched chain amino-acid transaminase 1, cytosolic
Band: 12p12.1
Quick LinksEntrez ID:586; OMIM: 113520; Uniprot ID:BCAT1_HUMAN; ENSEMBL ID: ENSG00000060982; HGNC ID: 976
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
blastocyst10 / 62319160
fetus48 / 56401285
neonate2 / 3109764
infant0 / 236200 
juvenile3 / 5555653
adult167 / 193912186
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma13 / 82823156
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor173 / 263845655
glioma7 / 10688365
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia9 / 9584293
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma6 / 7175583
non-neoplasia18 / 97250185
normal222 / 336030766
ovarian tumor8 / 76682104
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer0 / 1026800 
retinoblastoma5 / 46356107
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor15 / 90257166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone15 / 71655209
bone marrow8 / 48801163
brain47 / 110098942
cervix0 / 481710 
connective tissue30 / 149255200
ear2 / 16212123
embryonic tissue54 / 215722250
esophagus1 / 2020949
eye17 / 21105480
heart3 / 8962633
intestine5 / 23447221
kidney8 / 21177737
larynx1 / 2414541
liver12 / 20774357
lung10 / 33697429
lymph4 / 4427090
lymph node17 / 91610185
mammary gland1 / 1532716
mouth1 / 6705214
muscle9 / 10771583
nerve0 / 157680 
ovary14 / 102051137
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta15 / 28082553
prostate0 / 1893450 
salivary gland4 / 20155198
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis89 / 330442269
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus17 / 23287872
vascular11 / 51780212
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214452_at
Cell line Expression level Expression bar
721_B_lymphoblasts95.55
Adipocyte6.45
AdrenalCortex9.45
Adrenalgland5.65
Amygdala6.25
Appendix7.95
AtrioventricularNode6.45
BDCA4+_DentriticCells6.85
Bonemarrow7
BronchialEpithelialCells6
CD105+_Endothelial6.25
CD14+_Monocytes6.65
CD19+_BCells(neg._sel.)6.4
CD33+_Myeloid8
CD34+9.5
CD4+_Tcells6.65
CD56+_NKCells7.35
CD71+_EarlyErythroid6.05
CD8+_Tcells5.9
CardiacMyocytes37.8
Caudatenucleus5.6
Cerebellum5.15
CerebellumPeduncles7.55
CiliaryGanglion5.15
CingulateCortex6.7
Colorectaladenocarcinoma6.3
DorsalRootGanglion5.7
FetalThyroid6.25
Fetalbrain5.9
Fetalliver5.6
Fetallung4.55
GlobusPallidus5.45
Heart9.5
Hypothalamus6.5
Kidney5.6
Leukemia_chronicMyelogenousK-5625.9
Leukemia_promyelocytic-HL-605.7
Leukemialymphoblastic(MOLT-4)5.35
Liver9.15
Lung6.85
Lymphnode5.15
Lymphoma_burkitts(Daudi)9.2
Lymphoma_burkitts(Raji)9.8
MedullaOblongata5.75
OccipitalLobe5.6
OlfactoryBulb4.85
Ovary5.5
Pancreas5.8
PancreaticIslet7
ParietalLobe7.1
Pituitary7.65
Placenta6.05
Pons6.2
PrefrontalCortex7.45
Prostate7.2
Salivarygland5.35
SkeletalMuscle10.3
Skin6.55
SmoothMuscle75.7
Spinalcord6.65
SubthalamicNucleus6.3
SuperiorCervicalGanglion9.3
TemporalLobe6
Testis5.55
TestisGermCell5.25
TestisIntersitial11.6
TestisLeydigCell6.95
TestisSeminiferousTubule5.55
Thalamus6.65
Thymus4.8
Thyroid7.6
Tongue6.75
Tonsil6.3
Trachea5.1
TrigeminalGanglion9.5
Uterus4.95
UterusCorpus6.1
WholeBlood6.6
Wholebrain5
colon6.2
pineal_day7.62
pineal_night7.58
retina7.875
small_intestine5.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P87528
  • 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
Amygdala4.03 ± 0.76
Basal Forebrain5 ± 0.31
Basal Part of Pons4.8 ± 0.33
Cerebellar Cortex3.84 ± 0.52
Cerebellar Nuclei5.38 ± 0.31
Claustrum4.01 ± 0.8
Epithalamus3.78 ± 0.75
Frontal Lobe4.56 ± 0.62
Globus Pallidus5.23 ± 0.42
Hypothalamus4.6 ± 0.28
Insula4.3 ± 0.52
Limbic Lobe4.24 ± 0.54
Mesencephalon4.75 ± 0.69
Myelencephalon4.44 ± 0.7
Occipital Lobe4.5 ± 0.6
Parietal Lobe4.69 ± 0.58
Pontine Tegmentum4.46 ± 0.59
Striatum4.82 ± 0.5
Subthalamus5.05 ± 0.64
Temporal Lobe4.33 ± 0.63
Thalamus4.78 ± 0.48
White Matter4.56 ± 0.55
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bcat1CBCerebellum23.62
50
Bcat1CTXCerebral cortex31.58
35.14
Bcat1HIPHippocampal region25.52
48.88
Bcat1HPFHippocampal formation30.43
46.13
Bcat1HYHypothalamus41.57
45.36
Bcat1LSXLateral septal complex32.73
29.02
Bcat1MBMidbrain50
50
Bcat1MYMedulla44.16
50
Bcat1OLFOlfactory bulb36.95
45.98
Bcat1PPons46.67
50
Bcat1PALPallidum33.16
49.66
Bcat1RHPRetrohippocampal region38.25
43.53
Bcat1sAMYStriatum-like amygdalar nuclei33.35
33.82
Bcat1STRStriatum13.15
13.44
Bcat1STRdStriatum dorsal region7.25
7.94
Bcat1STRvStriatum ventral region15.13
15.15
Bcat1THThalamus39.4
48.62
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BCAT1_HUMAN_110 10 110 119 LFQPNLNMDR PRIDE
PAp00000732 20 127 146 ATLPVFDKEELLECIQQLVK 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved