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| TissGeneSummary for AMDHD1 |
 Gene summary |
| Basic gene information | Gene symbol | AMDHD1 |
| Gene name | amidohydrolase domain containing 1 | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 12q23.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_152435.2, | |
| Description | amidohydrolase domain-containing protein 1probable imidazolonepropionase | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000139344 | ||
| HPRD : 14605 | ||
| Vega : OTTHUMG00000170353 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AMDHD1 | |
| BioGPS: 144193 | ||
| Pathway | NCI Pathway Interaction Database: AMDHD1 | |
| KEGG: AMDHD1 | ||
| REACTOME: AMDHD1 | ||
| Pathway Commons: AMDHD1 | ||
| Context | iHOP: AMDHD1 | |
| ligand binding site mutation search in PubMed: AMDHD1 | ||
| UCL Cancer Institute: AMDHD1 | ||
| 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) | KidneyLiver | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | KIRC,KIRP,KICHLIHC | |
| Reference showing the relevant tissue of AMDHD1 | ||
| Description by TissGene annotations | ||
| * 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 AMDHD1 |
| 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 |
| KICH | -1.975930258 | 2.256705742 | -4.232636 | 2.03E-12 | 2.27E-11 |
| LIHC | 6.528357742 | 8.458795742 | -1.930438 | 3.57E-07 | 2.15E-06 |
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| TissGene-miRNA for AMDHD1 |
| 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 AMDHD1 |
| TissGeneSNV for AMDHD1 |
| 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.S3G | READ | 3 |
| p.G381A | BRCA | 1 |
| p.K387R | KIRC | 1 |
| p.D262N | SKCM | 1 |
| p.E166K | UCEC | 1 |
| p.E111* | UCEC | 1 |
| p.A52V | UCEC | 1 |
| p.K214Q | UCEC | 1 |
| p.S3G | UCS | 1 |
| p.I368V | BLCA | 1 |
| p.S358C | LIHC | 1 |
| p.G65A | KIRC | 1 |
| p.A319T | PRAD | 1 |
| p.D252Y | UCEC | 1 |
| p.E99K | GBM | 1 |
| p.R125C | COAD | 1 |
| p.I173T | MESO | 1 |
| p.D252H | KIRP | 1 |
| p.E66* | UCEC | 1 |
| p.I208V | LUAD | 1 |
| p.E174Q | ESCA | 1 |
| p.R178W | HNSC | 1 |
| p.M267I | CESC | 1 |
| p.R171L | ESCA | 1 |
| p.R171H | UCEC | 1 |
| p.A148T | COAD | 1 |
| p.G326R | LUSC | 1 |
| p.S3G | STAD | 1 |
| p.M267I | SKCM | 1 |
| p.D206N | LUAD | 1 |
| p.S396A | LIHC | 1 |
| p.E290K | CESC | 1 |
| p.G420R | SKCM | 1 |
| p.D162N | SKCM | 1 |
| p.E164D | UCEC | 1 |
| p.L83W | SKCM | 1 |
| p.T307N | COAD | 1 |
| p.G389E | SKCM | 1 |
| p.S396* | BLCA | 1 |
| p.I393V | UCEC | 1 |
| p.A52D | LGG | 1 |
| p.E99K | SKCM | 1 |
| p.G407R | UCEC | 1 |
| p.H380N | BRCA | 1 |
| p.E286K | BLCA | 1 |
| p.H260Y | THCA | 1 |
| p.H380R | UCEC | 1 |
| p.A373T | UCEC | 1 |
| p.S343L | LGG | 1 |
| p.D85Y | UCEC | 1 |
| p.R171H | PRAD | 1 |
| p.A186V | SKCM | 1 |
| p.V172M | ESCA | 1 |
| p.S3G | COAD | 1 |
| p.D262Y | PRAD | 1 |
| p.D85N | HNSC | 1 |
| p.E223K | SKCM | 1 |
| p.E179K | LUAD | 1 |
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| TissGeneCNV for AMDHD1 |
| 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 AMDHD1 |
| 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 | FusionScan | SARC | TCGA-DX-A1KW-01A | C12orf51-AMDHD1 | 5'UTR-CDS | chr12:112819755 | chr12:96360125 |
| Chimerdb3.0 | FusionScan | BRCA | TCGA-AR-A251-01A | ELK3-AMDHD1 | Out-of-Frame | chr12:96617551 | chr12:96346494 |
| TCGAfusionPortal | PRADA | BRCA | TCGA-AR-A251-01A | ELK3-AMDHD1 | Out-of-frame | Chr12:96617551 | Chr12:96346495 |
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| TissGeneNet for AMDHD1 |
| 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) |
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| TissGeneProg for AMDHD1 |
| 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 AMDHD1 |
| TissGeneDrug for AMDHD1 |
| 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 AMDHD1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
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