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| TissGeneSummary for ALS2CR12 |
 Gene summary |
| Basic gene information | Gene symbol | ALS2CR12 |
| Gene name | amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 2q33.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001127391.2, NM_001289993.1,NM_139163.3,NR_110620.1, | |
| Description | amyotrophic lateral sclerosis 2 chromosomal region candidate gene 12 protein | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000155749 | ||
| HPRD : 12444 | ||
| Vega : OTTHUMG00000132824 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ALS2CR12 | |
| BioGPS: 130540 | ||
| Pathway | NCI Pathway Interaction Database: ALS2CR12 | |
| KEGG: ALS2CR12 | ||
| REACTOME: ALS2CR12 | ||
| Pathway Commons: ALS2CR12 | ||
| Context | iHOP: ALS2CR12 | |
| ligand binding site mutation search in PubMed: ALS2CR12 | ||
| UCL Cancer Institute: ALS2CR12 | ||
| Assigned class in TissGDB* | C | |
| Included tissue-specific gene expression resources | TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Testis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
| Reference showing the relevant tissue of ALS2CR12 | ||
| Description by TissGene annotations | Fused withOncogene Fused withTSGene | |
| * Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO term | PubMed ID |
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| TissGeneExp for ALS2CR12 |
| Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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| Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
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| Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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| - Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
| Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
| LUSC | -1.752871345 | 0.593830616 | -2.346701961 | 1.76E-11 | 7.13E-11 |
| KICH | -2.060157462 | -0.285649462 | -1.774508 | 5.62E-08 | 2.70E-07 |
| KIRC | -2.112694629 | -0.59550574 | -1.517188889 | 4.09E-17 | 2.44E-16 |
| LUAD | -1.698903393 | 0.278932814 | -1.977836207 | 3.50E-08 | 1.46E-07 |
| BLCA | -2.854049673 | -1.838923357 | -1.015126316 | 0.000983 | 0.007007026 |
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| TissGene-miRNA for ALS2CR12 |
| Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
| Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
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| TissGeneMut for ALS2CR12 |
| TissGeneSNV for ALS2CR12 |
| nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
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| Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
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| - nsSNVs sorted by frequency. |
| AAchange | Cancer type | # samples |
| p.E250K | BLCA | 1 |
| p.Q152* | SKCM | 1 |
| p.N92I | SKCM | 1 |
| p.R20W | STAD | 1 |
| p.R222C | BLCA | 1 |
| p.H49Y | SKCM | 1 |
| p.Q133H | OV | 1 |
| p.H402Y | BLCA | 1 |
| p.M104V | UCEC | 1 |
| p.G420R | HNSC | 1 |
| p.K406N | LGG | 1 |
| p.A369D | SARC | 1 |
| p.E387* | UCS | 1 |
| p.E286Q | KIRP | 1 |
| p.R20Q | THCA | 1 |
| p.Q133K | STAD | 1 |
| p.T312I | UCEC | 1 |
| p.I395S | GBM | 1 |
| p.P14H | CHOL | 1 |
| p.R30C | GBM | 1 |
| p.N125S | ESCA | 1 |
| p.R107K | SKCM | 1 |
| p.E308K | BLCA | 1 |
| p.Q70H | ESCA | 1 |
| p.E413K | SKCM | 1 |
| p.R319K | BLCA | 1 |
| p.T124I | SKCM | 1 |
| p.D431Y | HNSC | 1 |
| p.V90L | CESC | 1 |
| p.E247K | HNSC | 1 |
| p.S97Y | UCEC | 1 |
| p.N82K | LUAD | 1 |
| p.E387X | UCS | 1 |
| p.R20Q | UCEC | 1 |
| p.K260E | KIRC | 1 |
| p.E390K | SKCM | 1 |
| p.R20Q | PAAD | 1 |
| p.R20W | ESCA | 1 |
| p.C163F | LUAD | 1 |
| p.A241V | COAD | 1 |
| p.G18R | THYM | 1 |
| p.L296F | BLCA | 1 |
| p.R30C | BLCA | 1 |
| p.R120T | BLCA | 1 |
| p.R222C | UCEC | 1 |
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| TissGeneCNV for ALS2CR12 |
| Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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| TissGeneFusions for ALS2CR12 |
| Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
| Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
| Chimerdb3.0 | ChiTaRs | NA | BF735164 | ALS2CR12-LRPPRC | chr2:202156324 | chr2:44115367 | |
| Chimerdb3.0 | FusionScan | BRCA | TCGA-A8-A07U-01A | PPTC7-ALS2CR12 | Out-of-Frame | chr12:111020613 | chr2:202173973 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-A8-A07U-01A | PPTC7-ALS2CR12 | Out-of-frame | Chr12:111020614 | Chr2:202173973 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-AN-A0XU-01A | ORC2-ALS2CR12 | Out-of-frame | Chr2:201790559 | Chr2:202173973 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-BH-A18T-01A | CASP8-ALS2CR12 | In-frame | Chr2:202131514 | Chr2:202195556 |
| TCGAfusionPortal | PRADA | LUAD | TCGA-55-8302-01A | FAM126B-ALS2CR12 | 5UTR-CDS | Chr2:201936333 | Chr2:202154508 |
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| TissGeneNet for ALS2CR12 |
| Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
| BRCA (tumor) | BRCA (normal) |
| ALS2CR12, SRC, PIK3R1, SULT2B1 (tumor) | ALS2CR12, SRC, PIK3R1, SULT2B1 (normal) |
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| COAD (tumor) | COAD (normal) |
| ALS2CR12, SRC, PIK3R1, SULT2B1 (tumor) | ALS2CR12, SRC, PIK3R1, SULT2B1 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| ALS2CR12, SRC, PIK3R1, SULT2B1 (tumor) | ALS2CR12, SRC, PIK3R1, SULT2B1 (normal) |
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| KICH (tumor) | KICH (normal) |
| ALS2CR12, SRC, PIK3R1, SULT2B1 (tumor) | ALS2CR12, SRC, PIK3R1, SULT2B1 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| ALS2CR12, SRC, PIK3R1, SULT2B1 (tumor) | ALS2CR12, SRC, PIK3R1, SULT2B1 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| ALS2CR12, SRC, PIK3R1, SULT2B1 (tumor) | ALS2CR12, SRC, PIK3R1, SULT2B1 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| ALS2CR12, SRC, PIK3R1, SULT2B1 (tumor) | ALS2CR12, SRC, PIK3R1, SULT2B1 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| ALS2CR12, SRC, PIK3R1, SULT2B1 (tumor) | ALS2CR12, SRC, PIK3R1, SULT2B1 (normal) |
 |  |
| LUSC (tumor) | LUSC (normal) |
| ALS2CR12, SRC, PIK3R1, SULT2B1 (tumor) | ALS2CR12, SRC, PIK3R1, SULT2B1 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| ALS2CR12, SRC, PIK3R1, SULT2B1 (tumor) | ALS2CR12, SRC, PIK3R1, SULT2B1 (normal) |
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| STAD (tumor) | STAD (normal) |
| ALS2CR12, SRC, PIK3R1, SULT2B1 (tumor) | ALS2CR12, SRC, PIK3R1, SULT2B1 (normal) |
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| THCA (tumor) | THCA (normal) |
| ALS2CR12, SRC, PIK3R1, SULT2B1 (tumor) | ALS2CR12, SRC, PIK3R1, SULT2B1 (normal) |
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| TissGeneProg for ALS2CR12 |
| Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
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| Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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| TissGeneClin for ALS2CR12 |
| TissGeneDrug for ALS2CR12 |
| Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
| DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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| TissGeneDisease for ALS2CR12 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0003873 | Rheumatoid Arthritis | 1 | GWASCAT |
| umls:C0005684 | Malignant neoplasm of urinary bladder | 1 | GAD |
| umls:C0006142 | Malignant neoplasm of breast | 1 | BeFree |
| umls:C0007117 | Basal cell carcinoma | 1 | GWASCAT |
| umls:C0007137 | Squamous cell carcinoma | 1 | GAD |
| umls:C0014859 | Esophageal Neoplasms | 1 | GAD |
| umls:C0025202 | melanoma | 1 | GAD,GWASCAT |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
| umls:C0279626 | Squamous cell carcinoma of esophagus | 1 | GWASCAT |
| umls:C0678222 | Breast Carcinoma | 1 | BeFree |
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