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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for MLXIPL |
Basic gene info. | Gene symbol | MLXIPL |
Gene name | MLX interacting protein-like | |
Synonyms | CHREBP|MIO|MONDOB|WBSCR14|WS-bHLH|bHLHd14 | |
Cytomap | UCSC genome browser: 7q11.23 | |
Genomic location | chr7 :73007523-73038870 | |
Type of gene | protein-coding | |
RefGenes | NM_032951.2, NM_032952.2,NM_032953.2,NM_032954.2,NM_032994.2, | |
Ensembl id | ENSG00000262077 | |
Description | MLX-interacting protein-likeMlx interactorWS basic-helix-loop-helix leucine zipper proteinWilliams Beuren syndrome chromosome region 14Williams-Beuren syndrome chromosome region 14 protein 1Williams-Beuren syndrome chromosome region 14 protein 2carb | |
Modification date | 20141207 | |
dbXrefs | MIM : 605678 | |
HGNC : HGNC | ||
Ensembl : ENSG00000009950 | ||
HPRD : 12033 | ||
Vega : OTTHUMG00000129995 | ||
Protein | UniProt: Q9NP71 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MLXIPL | |
BioGPS: 51085 | ||
Gene Expression Atlas: ENSG00000262077 | ||
The Human Protein Atlas: ENSG00000262077 | ||
Pathway | NCI Pathway Interaction Database: MLXIPL | |
KEGG: MLXIPL | ||
REACTOME: MLXIPL | ||
ConsensusPathDB | ||
Pathway Commons: MLXIPL | ||
Metabolism | MetaCyc: MLXIPL | |
HUMANCyc: MLXIPL | ||
Regulation | Ensembl's Regulation: ENSG00000262077 | |
miRBase: chr7 :73,007,523-73,038,870 | ||
TargetScan: NM_032951 | ||
cisRED: ENSG00000262077 | ||
Context | iHOP: MLXIPL | |
cancer metabolism search in PubMed: MLXIPL | ||
UCL Cancer Institute: MLXIPL | ||
Assigned class in ccmGDB | A - This gene has a literature evidence and it belongs to cancer gene. | |
References showing role of MLXIPL in cancer cell metabolism | 1. Meidtner K, Fisher E, Ă„ngquist L, Holst C, Vimaleswaran KS, et al. (2014) Variation in genes related to hepatic lipid metabolism and changes in waist circumference and body weight. Genes & nutrition 9: 1-11. go to article |
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Phenotypic Information for MLXIPL(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: MLXIPL |
Familial Cancer Database: MLXIPL |
* 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/ |
Metabolic Pathway Description | |
REACTOME_INTEGRATION_OF_ENERGY_METABOLISM |
Others | |
OMIM | 605678; gene. 605678; gene. |
Orphanet | 904; Williams syndrome. 904; Williams syndrome. |
Disease | KEGG Disease: MLXIPL |
MedGen: MLXIPL (Human Medical Genetics with Condition) | |
ClinVar: MLXIPL | |
Phenotype | MGI: MLXIPL (International Mouse Phenotyping Consortium) |
PhenomicDB: MLXIPL |
Mutations for MLXIPL |
* 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. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
- Statistics for Tissue and Mutation type | Top |
- For Inter-chromosomal Variations |
There's no inter-chromosomal structural variation. |
- 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 |
prostate | MLXIPL | chr7 | 73008063 | 73008063 | chr7 | 106648374 | 106648374 | |
prostate | MLXIPL | chr7 | 73013804 | 73013804 | chr7 | 115908989 | 115908989 | |
prostate | MLXIPL | chr7 | 73013970 | 73013970 | PIK3CG | chr7 | 106532889 | 106532889 |
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) |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows MLXIPL 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 |
AI739073 | PUSL1 | 1 | 212 | 1 | 1246989 | 1247203 | MLXIPL | 195 | 378 | 7 | 73014062 | 73014245 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=52) | (# total SNVs=16) |
(# total SNVs=0) | (# total SNVs=1) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* 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 |
chr7:73021981-73021981 | p.P141L | 4 |
chr7:73020337-73020337 | p.Q241H | 4 |
chr7:73010969-73010969 | p.G608S | 2 |
chr7:73009996-73009996 | p.R761C | 2 |
chr7:73021716-73021716 | p.R173H | 2 |
chr7:73013941-73013941 | p.S329F | 2 |
chr7:73008622-73008622 | p.L808V | 2 |
chr7:73011060-73011060 | p.P577P | 2 |
chr7:73020301-73020302 | p.S253L | 2 |
chr7:73011747-73011747 | p.P456P | 2 |
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SNV Counts per Each Loci in TCGA data |
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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 | 2 | 1 | 2 | 5 | 3 |   | 2 | 1 | 4 |   |   | 5 | 1 | 1 |   |   | 16 | 12 |   | 4 |
# mutation | 2 | 1 | 2 | 5 | 3 |   | 2 | 1 | 3 |   |   | 5 | 1 | 1 |   |   | 17 | 12 |   | 4 |
nonsynonymous SNV | 2 | 1 | 2 | 5 | 2 |   | 1 |   | 3 |   |   | 3 | 1 |   |   |   | 12 | 11 |   | 3 |
synonymous SNV |   |   |   |   | 1 |   | 1 | 1 |   |   |   | 2 |   | 1 |   |   | 5 | 1 |   | 1 |
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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Top 10 SNVs Having the Most Samples in TCGA data |
* 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 |
chr7:73008676 | p.A657A,MLXIPL | 2 |
chr7:73010570 | p.S790R,MLXIPL | 2 |
chr7:73009996 | p.R639W,MLXIPL | 2 |
chr7:73010717 | p.R761C,MLXIPL | 2 |
chr7:73008622 | p.S250S,MLXIPL | 1 |
chr7:73011917 | p.L808V,MLXIPL | 1 |
chr7:73010239 | p.P400S,MLXIPL | 1 |
chr7:73014021 | p.L201L,MLXIPL | 1 |
chr7:73010969 | p.Y805Y,MLXIPL | 1 |
chr7:73038624 | p.R650R,MLXIPL | 1 |
Other DBs for Point Mutations |
Copy Number for MLXIPL in TCGA |
* 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] |
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Gene Expression for MLXIPL |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* 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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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* 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 |
ADH1B,ADIPOQ,AQP7,AQP7P1,C14orf180,CIDEA,CIDEC, FRMD1,GPD1,HEPACAM,HSD17B13,KCNIP2,LIPE,LOC283392, MLXIPL,PLIN1,PLIN4,RDH5,SLC19A3,TMEM132C,TUSC5 | ABHD15,ACACB,AGPAT2,ALDH1L1,ANKRD53,AQP7,C14orf180, CIDEC,CNTFR,CSPG4,ECHDC3,FGFRL1,LGALS12,MLXIPL, ORMDL3,PC,PECR,PLA2G16,PNPLA2,SHMT1,TMEM132C | ||||
ADCK5,BRAT1,DMTF1,DICER1-AS1,GIGYF1,LOC349114,LTB4R, MLXIPL,MSH5,NSUN5P1,NSUN5P2,OGT,PABPC1L,PILRB, PRKRIP1,SLC12A9,STX16,TAZ,ZMIZ2,ZNF335,ZNF3 | ABCC2,CCDC108,CREB3L3,CYP3A4,DNASE1,GPR112,GRAMD1B, GSTA1,KCNH6,KCNJ3,MLXIPL,MME,MRO,NR0B2, PLB1,PRODH,RBP3,REEP6,SI,SLC13A1,ZNF488 |
Co-Expressed gene's Protein-protein interaction Network Plot |
* 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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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for MLXIPL |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Organism-specific databases | PharmGKB | PA37353; -. |
Organism-specific databases | PharmGKB | PA37353; -. |
Organism-specific databases | CTD | 51085; -. |
Organism-specific databases | CTD | 51085; -. |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00131 | MLX interacting protein-like | approved; nutraceutical | Adenosine monophosphate | ||
DB00171 | MLX interacting protein-like | approved; nutraceutical | Adenosine triphosphate |
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Cross referenced IDs for MLXIPL |
* 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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