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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for LALBA |
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Phenotypic Information for LALBA(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: LALBA |
Familial Cancer Database: LALBA |
* 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/ |
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KEGG_GALACTOSE_METABOLISM |
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OMIM | 149750; gene. |
Orphanet | |
Disease | KEGG Disease: LALBA |
MedGen: LALBA (Human Medical Genetics with Condition) | |
ClinVar: LALBA | |
Phenotype | MGI: LALBA (International Mouse Phenotyping Consortium) |
PhenomicDB: LALBA |
Mutations for LALBA |
* 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. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows LALBA 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 |
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There's no copy number variation information in COSMIC data for this gene. |
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Stat. for Non-Synonymous SNVs (# total SNVs=8) | (# total SNVs=1) |
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(# total SNVs=0) | (# total SNVs=0) |
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* 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 |
chr12:48962299-48962299 | p.? | 2 |
chr12:48963728-48963728 | p.E26K | 2 |
chr12:48962944-48962944 | p.L71L | 2 |
chr12:48963801-48963801 | p.M1I | 1 |
chr12:48961786-48961786 | p.A128V | 1 |
chr12:48962956-48962956 | p.T67T | 1 |
chr12:48962960-48962960 | p.S66N | 1 |
chr12:48962315-48962315 | p.K118T | 1 |
chr12:48962985-48962985 | p.Q58K | 1 |
chr12:48962322-48962322 | p.D116N | 1 |
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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 | 1 |   |   | 2 |   |   | 1 |   |   |   |   |   |   |   |   |   | 10 | 1 |   | 2 |
# mutation | 1 |   |   | 1 |   |   | 1 |   |   |   |   |   |   |   |   |   | 9 | 1 |   | 2 |
nonsynonymous SNV |   |   |   | 1 |   |   | 1 |   |   |   |   |   |   |   |   |   | 5 | 1 |   | 2 |
synonymous SNV | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | 4 |   |   |   |
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]) |
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* 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 |
chr12:48963683 | p.E26K | 2 |
chr12:48963707 | p.A41T | 2 |
chr12:48963728 | p.D33N | 2 |
chr12:48962868 | p.M1I | 1 |
chr12:48962875 | p.K118T | 1 |
chr12:48962890 | p.I114I | 1 |
chr12:48962901 | p.D106G | 1 |
chr12:48962902 | p.D97N | 1 |
chr12:48962944 | p.I94M | 1 |
chr12:48962956 | p.R89R | 1 |
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* 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. |
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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] |
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Gene Expression for LALBA |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* 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)) |
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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* 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 |
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ALDH1L1,BTN1A1,C17orf77,CEL,CSN1S1,CSN1S2AP,CSN2, CSRNP3,CXCL2,FAM196B,TMEM236,GREM2,KLF15,LALBA, MRC1,NPFFR2,OLAH,SGCZ,SLC13A1,SLC9A4,TNFRSF11B | ASIC5,BTN1A1,CEL,CELP,CHRDL2,CSN1S1,CSN1S2AP, CSN2,CSN3,GC,GPRC6A,KRTAP5-10,LALBA,OLAH, OR52A5,OR8S1,SLC9A4,SLCO4C1,STATH,TMEM171,XDH |
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C2orf48,CSN3,CT47A1,DCDC1,FHAD1,FTHL17,GCG, ITGA2B,KLRC1,LALBA,LOC100302640,MT1H,OR6V1,PLCZ1, PLG,SLC24A2,SNAR-C4,TPTE,UBL4B,XAGE2,ZNF474 | APOL1,PRR27,CXorf49B,FAM66D,GBP7,GZMA,SPPL2C, KIR2DL4,KRTAP1-1,LALBA,LAP3,LMO1,MIP,NUB1, OR2G2,PADI6,PSME2,SNORA26,TAP2,PRSS58,TYMP |
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* 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 |
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Pharmacological Information for LALBA |
There's no related Drug. |
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Cross referenced IDs for LALBA |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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