|
Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for BCAT1 |
Top |
Phenotypic Information for BCAT1(metabolism pathway, cancer, disease, phenome) |
![]() | |
Cancer | CGAP: BCAT1 |
Familial Cancer Database: BCAT1 |
* This gene is included in those cancer gene databases. |
Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
![]() | |
REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
![]() | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: BCAT1 |
MedGen: BCAT1 (Human Medical Genetics with Condition) | |
ClinVar: BCAT1 | |
Phenotype | MGI: BCAT1 (International Mouse Phenotyping Consortium) |
PhenomicDB: BCAT1 |
Mutations for BCAT1 |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
![]() |
- Statistics for Tissue and Mutation type | Top |
![]() |
- For Inter-chromosomal Variations |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
![]() |
- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
![]() |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | BCAT1 | chr12 | 24991057 | 24991077 | BCAT1 | chr12 | 24992462 | 24992482 |
pancreas | BCAT1 | chr12 | 25014200 | 25014220 | ITPR2 | chr12 | 26542091 | 26542111 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
![]() |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows BCAT1 related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
AA743391 | BCAT1 | 1 | 89 | 12 | 24967746 | 24967834 | BCAT1 | 87 | 363 | 12 | 24968777 | 24969053 | |
AL120469 | BCAT1 | 65 | 126 | 12 | 24966325 | 24966386 | MDGA2 | 111 | 130 | 14 | 47647579 | 47647598 | |
AI275099 | BCAT1 | 1 | 63 | 12 | 24964071 | 24964353 | DNAJC18 | 57 | 380 | 5 | 138746937 | 138747260 | |
BF996876 | BCAT1 | 21 | 260 | 12 | 24968749 | 24968990 | SLC9A1 | 255 | 482 | 1 | 27429218 | 27432495 | |
AI399863 | BCAT1 | 1 | 63 | 12 | 24964071 | 24964353 | DNAJC18 | 57 | 354 | 5 | 138746937 | 138747234 |
![]() |
Top |
![]() |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 2 |   |   |   |   |   |   |   | 2 |   | 7 |   |   |   | 7 |   | 1 | |||
GAIN (# sample) | 1 |   |   |   |   |   |   |   | 2 |   | 7 |   |   |   | 7 |   | 1 | |||
LOSS (# sample) | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
Top |
![]() |
|
![]() |
Top |
![]() |
Stat. for Non-Synonymous SNVs (# total SNVs=46) | (# total SNVs=8) |
![]() | ![]() |
(# total SNVs=2) | (# total SNVs=0) |
![]() |
Top |
![]() |
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr12:24982809-24982809 | p.E356G | 3 |
chr12:25031487-25031487 | p.R163C | 3 |
chr12:25054762-25054762 | p.V22M | 3 |
chr12:24982785-24982785 | p.R364H | 2 |
chr12:25002740-25002740 | p.T218T | 2 |
chr12:24989523-24989525 | p.E275delE | 2 |
chr12:25047292-25047292 | p.F66V | 2 |
chr12:24985736-24985736 | p.G322E | 2 |
chr12:25047312-25047312 | p.T59M | 2 |
chr12:25047326-25047326 | p.T54T | 2 |
Top |
![]() |
|
![]() |
Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample |   | 4 |   | 6 | 1 |   | 1 |   | 1 |   |   | 2 | 2 |   |   |   | 11 | 6 |   | 3 |
# mutation |   | 4 |   | 6 | 1 |   | 1 |   | 1 |   |   | 2 | 2 |   |   |   | 11 | 6 |   | 4 |
nonsynonymous SNV |   | 4 |   | 5 |   |   |   |   | 1 |   |   | 1 | 2 |   |   |   | 9 | 3 |   | 4 |
synonymous SNV |   |   |   | 1 | 1 |   | 1 |   |   |   |   | 1 |   |   |   |   | 2 | 3 |   |   |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
Top |
![]() |
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chr12:25031487 | p.G261E,BCAT1 | 2 |
chr12:24985736 | p.R102C,BCAT1 | 2 |
chr12:24995049 | p.S134L,BCAT1 | 1 |
chr12:25031472 | p.M1T,BCAT1 | 1 |
chr12:25054777 | p.C274R,BCAT1 | 1 |
chr12:24982786 | p.L125L,BCAT1 | 1 |
chr12:24995112 | p.K119N,BCAT1 | 1 |
chr12:25101865 | p.A258A,BCAT1 | 1 |
chr12:24985698 | p.K115R,BCAT1 | 1 |
chr12:24995140 | p.T257K,BCAT1 | 1 |
![]() |
![]() |
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
![]() |
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
Top |
Gene Expression for BCAT1 |
![]() |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
![]() |
![]() |
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
![]() |
Top |
![]() |
* This plots show the correlation between CNV and gene expression. |
![]() | |
![]() |
Top |
Gene-Gene Network Information |
![]() |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
![]() | |||||
BCAT1,C12orf77,LINC01548,CNPY1,FAM150A,GABRA4,GBX2, GFI1B,GLT1D1,KCNA6,LRMP,MC3R,MEGF11,PIRT, POU2F3,RELN,SCN3A,SLC7A14,SPIC,ST18,T | ARSB,BCAT1,CD200R1,CD33,CMKLR1,DAB2,FBN1, FOLR2,FSTL1,LGI2,LGMN,LILRB5,MPEG1,MRC1, MS4A4A,RASGRP4,SIGLEC1,SIRPB2,SLC24A4,TLR8,VSIG4 | ||||
![]() | |||||
ADAM12,ALPK2,BCAT1,CHSY3,COL1A1,COL1A2,COL3A1, COL5A1,COL5A2,GFPT2,GPR176,LOX,LZTS1,MRC2, NRP1,NTNG2,POSTN,PXDN,SPARC,ST6GALNAC5,WISP1 | ABCA6,ADAMTS6,AIF1L,APCDD1,BCAT1,C1R,C1S, CARD6,CTSK,CXCL12,DCLK1,MAP3K12,MMP2,PODN, RSPO3,SCN1B,SERPINF1,SERPING1,SRGAP2,SRPX,TGFBR2 |
![]() |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
Top |
![]() |
Top |
Pharmacological Information for BCAT1 |
![]() |
DB Category | DB Name | DB's ID and Url link |
![]() |
* Gene Centered Interaction Network. |
![]() |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00114 | branched chain amino-acid transaminase 1, cytosolic | nutraceutical | Pyridoxal Phosphate | ![]() | ![]() |
DB00142 | branched chain amino-acid transaminase 1, cytosolic | approved; nutraceutical | L-Glutamic Acid | ![]() | ![]() |
DB00149 | branched chain amino-acid transaminase 1, cytosolic | approved; nutraceutical | L-Leucine | ![]() | ![]() |
DB00161 | branched chain amino-acid transaminase 1, cytosolic | approved; nutraceutical | L-Valine | ![]() | ![]() |
DB00167 | branched chain amino-acid transaminase 1, cytosolic | approved; nutraceutical | L-Isoleucine | ![]() | ![]() |
DB07544 | branched chain amino-acid transaminase 1, cytosolic | experimental | N'-(5-CHLOROBENZOFURAN-2-CARBONYL)-2-(TRIFLUOROMETHYL)BENZENESULFONOHYDRAZIDE | ![]() | ![]() |
DB00121 | branched chain amino-acid transaminase 1, cytosolic | approved; nutraceutical | Biotin | ![]() | ![]() |
DB00130 | branched chain amino-acid transaminase 1, cytosolic | approved; nutraceutical; investigational | L-Glutamine | ![]() | ![]() |
Top |
Cross referenced IDs for BCAT1 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
Copyright © 2016-Present - The Univsersity of Texas Health Science Center at Houston @ |