Gene Page: BCAT1

Summary ?
GeneID586
SymbolBCAT1
SynonymsBCATC|BCT1|ECA39|MECA39|PNAS121|PP18
Descriptionbranched chain amino acid transaminase 1
ReferenceMIM:113520|HGNC:HGNC:976|Ensembl:ENSG00000060982|HPRD:00216|Vega:OTTHUMG00000169053
Gene typeprotein-coding
Map location12p12.1
Pascal p-value0.242
TADA p-value7.44E-4
Fetal beta0.922
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.
GO_AnnotationMapping neuro-related keywords to Gene Ontology annotationsHits with neuro-related keywords: 2 

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
BCAT1chr1224989507..24989508GTGNM_001178091
NM_001178092
NM_001178093
NM_001178094
NM_005504		.
.
.
.
.		frameshift
frameshift
frameshift
frameshift
frameshift		SchizophreniaDNM:Fromer_2014


Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

No co-expressed genes in brain regions


Section III. Gene Ontology annotation

Molecular functionGO termEvidenceNeuro keywordsPubMed ID
GO:0004084branched-chain-amino-acid transaminase activityIEAglutamate (GO term level: 6)-
GO:0004084branched-chain-amino-acid transaminase activityTASglutamate (GO term level: 6)6933702 
GO:0003824catalytic activityIEA-
GO:0016740transferase activityIEA-
Biological processGO termEvidenceNeuro keywordsPubMed ID
GO:0000082G1/S transition of mitotic cell cycleTAS8692959 
GO:0009081branched chain family amino acid metabolic processIEA-
GO:0009082branched chain family amino acid biosynthetic processTAS6933702 
GO:0008283cell proliferationTAS6933702 
GO:0008152metabolic processIEA-
Cellular componentGO termEvidenceNeuro keywordsPubMed ID
GO:0005737cytoplasmIEA-

Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG VALINE LEUCINE AND ISOLEUCINE DEGRADATION 4426All SZGR 2.0 genes in this pathway
KEGG VALINE LEUCINE AND ISOLEUCINE BIOSYNTHESIS 118All SZGR 2.0 genes in this pathway
KEGG PANTOTHENATE AND COA BIOSYNTHESIS 169All SZGR 2.0 genes in this pathway
PID MYC ACTIV PATHWAY 7962All SZGR 2.0 genes in this pathway
REACTOME METABOLISM OF AMINO ACIDS AND DERIVATIVES 200136All SZGR 2.0 genes in this pathway
REACTOME BRANCHED CHAIN AMINO ACID CATABOLISM 179All SZGR 2.0 genes in this pathway
NAKAMURA CANCER MICROENVIRONMENT DN 4629All SZGR 2.0 genes in this pathway
KORKOLA EMBRYONAL CARCINOMA UP 4127All SZGR 2.0 genes in this pathway
IGARASHI ATF4 TARGETS DN 9065All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS UP 579346All SZGR 2.0 genes in this pathway
THUM SYSTOLIC HEART FAILURE UP 423283All SZGR 2.0 genes in this pathway
DIAZ CHRONIC MEYLOGENOUS LEUKEMIA UP 1382904All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER LUMINAL VS MESENCHYMAL DN 460312All SZGR 2.0 genes in this pathway
CHARAFE BREAST CANCER BASAL VS MESENCHYMAL DN 5036All SZGR 2.0 genes in this pathway
VECCHI GASTRIC CANCER ADVANCED VS EARLY UP 175120All SZGR 2.0 genes in this pathway
SMIRNOV CIRCULATING ENDOTHELIOCYTES IN CANCER UP 158103All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 MUTATED SIGNATURE 1 DN 12686All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 1 DN 242165All SZGR 2.0 genes in this pathway
MULLIGHAN MLL SIGNATURE 2 DN 281186All SZGR 2.0 genes in this pathway
MULLIGHAN NPM1 SIGNATURE 3 DN 162116All SZGR 2.0 genes in this pathway
TONKS TARGETS OF RUNX1 RUNX1T1 FUSION GRANULOCYTE UP 5534All SZGR 2.0 genes in this pathway
SENESE HDAC3 TARGETS DN 536332All SZGR 2.0 genes in this pathway
JAATINEN HEMATOPOIETIC STEM CELL UP 316190All SZGR 2.0 genes in this pathway
DELYS THYROID CANCER UP 443294All SZGR 2.0 genes in this pathway
CAIRO PML TARGETS BOUND BY MYC UP 2317All SZGR 2.0 genes in this pathway
BERENJENO TRANSFORMED BY RHOA UP 536340All SZGR 2.0 genes in this pathway
HEIDENBLAD AMPLIFIED IN PANCREATIC CANCER 3119All SZGR 2.0 genes in this pathway
AMUNDSON RESPONSE TO ARSENITE 217143All SZGR 2.0 genes in this pathway
LIEN BREAST CARCINOMA METAPLASTIC VS DUCTAL UP 8351All SZGR 2.0 genes in this pathway
GRUETZMANN PANCREATIC CANCER DN 203134All SZGR 2.0 genes in this pathway
KIM MYCN AMPLIFICATION TARGETS UP 9264All SZGR 2.0 genes in this pathway
HATADA METHYLATED IN LUNG CANCER UP 390236All SZGR 2.0 genes in this pathway
PUJANA BRCA1 PCC NETWORK 16521023All SZGR 2.0 genes in this pathway
PUJANA ATM PCC NETWORK 1442892All SZGR 2.0 genes in this pathway
PUJANA CHEK2 PCC NETWORK 779480All SZGR 2.0 genes in this pathway
LIAO METASTASIS 539324All SZGR 2.0 genes in this pathway
SCHAEFFER PROSTATE DEVELOPMENT 48HR DN 428306All SZGR 2.0 genes in this pathway
PASQUALUCCI LYMPHOMA BY GC STAGE DN 165104All SZGR 2.0 genes in this pathway
BENPORATH NANOG TARGETS 988594All SZGR 2.0 genes in this pathway
BENPORATH SOX2 TARGETS 734436All SZGR 2.0 genes in this pathway
MORI EMU MYC LYMPHOMA BY ONSET TIME UP 11069All SZGR 2.0 genes in this pathway
ASTON MAJOR DEPRESSIVE DISORDER DN 160110All SZGR 2.0 genes in this pathway
PEART HDAC PROLIFERATION CLUSTER DN 7657All SZGR 2.0 genes in this pathway
LENAOUR DENDRITIC CELL MATURATION DN 12890All SZGR 2.0 genes in this pathway
AFFAR YY1 TARGETS DN 234137All SZGR 2.0 genes in this pathway
HESS TARGETS OF HOXA9 AND MEIS1 UP 6544All SZGR 2.0 genes in this pathway
YAGI AML SURVIVAL 12987All SZGR 2.0 genes in this pathway
BURTON ADIPOGENESIS 2 7252All SZGR 2.0 genes in this pathway
MCCLUNG CREB1 TARGETS UP 10072All SZGR 2.0 genes in this pathway
WANG SMARCE1 TARGETS UP 280183All SZGR 2.0 genes in this pathway
MONNIER POSTRADIATION TUMOR ESCAPE UP 393244All SZGR 2.0 genes in this pathway
CREIGHTON ENDOCRINE THERAPY RESISTANCE 3 720440All SZGR 2.0 genes in this pathway
LEIN MIDBRAIN MARKERS 8255All SZGR 2.0 genes in this pathway
WHITEFORD PEDIATRIC CANCER MARKERS 11663All SZGR 2.0 genes in this pathway
BLUM RESPONSE TO SALIRASIB UP 245159All SZGR 2.0 genes in this pathway
LEE LIVER CANCER SURVIVAL DN 175103All SZGR 2.0 genes in this pathway
BOYLAN MULTIPLE MYELOMA C D UP 13995All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO CSF2RB AND IL4 DN 315201All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF UP 418282All SZGR 2.0 genes in this pathway
RUTELLA RESPONSE TO HGF VS CSF2RB AND IL4 UP 408276All SZGR 2.0 genes in this pathway
COLINA TARGETS OF 4EBP1 AND 4EBP2 356214All SZGR 2.0 genes in this pathway
MEISSNER NPC HCP WITH H3 UNMETHYLATED 536296All SZGR 2.0 genes in this pathway
POOLA INVASIVE BREAST CANCER UP 288168All SZGR 2.0 genes in this pathway
CHIANG LIVER CANCER SUBCLASS PROLIFERATION UP 178108All SZGR 2.0 genes in this pathway
TSAI DNAJB4 TARGETS DN 66All SZGR 2.0 genes in this pathway
GYORFFY DOXORUBICIN RESISTANCE 5634All SZGR 2.0 genes in this pathway
KORKOLA EMBRYONIC CARCINOMA VS SEMINOMA UP 2215All SZGR 2.0 genes in this pathway
DANG MYC TARGETS UP 143100All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
WONG EMBRYONIC STEM CELL CORE 335193All SZGR 2.0 genes in this pathway
YAO TEMPORAL RESPONSE TO PROGESTERONE CLUSTER 8 4936All SZGR 2.0 genes in this pathway
KARLSSON TGFB1 TARGETS UP 12778All SZGR 2.0 genes in this pathway
JOHNSTONE PARVB TARGETS 3 DN 918550All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS UP 745475All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
FORTSCHEGGER PHF8 TARGETS DN 784464All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 227149All SZGR 2.0 genes in this pathway

Section VI. microRNA annotation

miRNA familyTarget positionmiRNA IDmiRNA seq
UTR startUTR endMatch method
miR-124/5066716781A,m8hsa-miR-506UAAGGCACCCUUCUGAGUAGA
hsa-miR-124brainUAAGGCACGCGGUGAAUGCC
miR-15525732579m8hsa-miR-155UUAAUGCUAAUCGUGAUAGGGG