TissGeneSummary for ACD |
Gene summary |
Basic gene information | Gene symbol | ACD |
Gene name | adrenocortical dysplasia homolog (mouse) | |
Synonyms | PIP1|PTOP|TINT1|TPP1 | |
Cytomap | UCSC genome browser: 16q22.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001082486.1, NM_001082487.1,NM_022914.2, | |
Description | POT1 and TIN2 organizing proteinPOT1 and TIN2-interacting proteinTIN2 interacting protein 1adrenocortical dysplasia protein homolog | |
Modification date | 20141207 | |
dbXrefs | MIM : 609377 | |
HGNC : HGNC | ||
Ensembl : ENSG00000102977 | ||
HPRD : 12417 | ||
Vega : OTTHUMG00000137547 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ACD | |
BioGPS: 65057 | ||
Pathway | NCI Pathway Interaction Database: ACD | |
KEGG: ACD | ||
REACTOME: ACD | ||
Pathway Commons: ACD | ||
Context | iHOP: ACD | |
ligand binding site mutation search in PubMed: ACD | ||
UCL Cancer Institute: ACD | ||
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) | StomachTestis | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | STADTGCT | |
Reference showing the relevant tissue of ACD | ||
Description by TissGene annotations | Risk TissGene in RFS TissgsLTS |
* 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 | GO:0000723 | telomere maintenance | 15181449 | GO:0051973 | positive regulation of telomerase activity | 17237768 | GO:0060381 | positive regulation of single-stranded telomeric DNA binding | 17237767 | GO:0000723 | telomere maintenance | 15181449 | GO:0051973 | positive regulation of telomerase activity | 17237768 | GO:0060381 | positive regulation of single-stranded telomeric DNA binding | 17237767 |
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TissGeneExp for ACD |
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) |
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) |
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. |
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) |
- 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 |
COAD | 0.95365318 | -0.05869682 | 1.01235 | 5.55E-17 | 6.08E-15 |
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TissGene-miRNA for ACD |
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 ACD |
TissGeneSNV for ACD |
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. |
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) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.L51F | SKCM | 3 |
p.P63L | SKCM | 2 |
p.L62F | SKCM | 2 |
p.P61S | SKCM | 1 |
p.G477E | BLCA | 1 |
p.H289Y | CESC | 1 |
p.G44S | SKCM | 1 |
p.P56L | SKCM | 1 |
p.P429L | SKCM | 1 |
p.R490M | HNSC | 1 |
p.P281L | SKCM | 1 |
p.P63S | SKCM | 1 |
p.P352T | SKCM | 1 |
p.Q268R | STAD | 1 |
p.R492H | HNSC | 1 |
p.S252F | ESCA | 1 |
p.E240X | ESCA | 1 |
p.P112L | SKCM | 1 |
p.S413F | SKCM | 1 |
p.W98* | LUSC | 1 |
p.W69* | SKCM | 1 |
p.R469W | COAD | 1 |
p.L52I | UCEC | 1 |
p.P411H | LGG | 1 |
p.G44C | LUAD | 1 |
p.P432L | SKCM | 1 |
p.P286A | UVM | 1 |
p.A405V | KIRC | 1 |
p.L62F | HNSC | 1 |
p.A408D | ESCA | 1 |
p.H292R | THCA | 1 |
p.Q6* | BLCA | 1 |
p.A68T | SKCM | 1 |
p.P470S | STAD | 1 |
p.P470L | COAD | 1 |
p.R34* | LUAD | 1 |
p.P77A | BRCA | 1 |
p.G369S | STAD | 1 |
p.E371K | BLCA | 1 |
p.W69X | SKCM | 1 |
p.E314Q | BLCA | 1 |
p.G494S | SARC | 1 |
p.G480E | BLCA | 1 |
p.A250T | BLCA | 1 |
p.R493M | HNSC | 1 |
p.N74S | STAD | 1 |
p.E166* | BLCA | 1 |
p.S351C | BLCA | 1 |
p.G366C | LUAD | 1 |
p.S244L | SKCM | 1 |
p.G538W | UCEC | 1 |
p.S255F | ESCA | 1 |
p.V191I | UCEC | 1 |
p.L62I | HNSC | 1 |
p.H289R | THCA | 1 |
p.W488C | STAD | 1 |
p.A247T | BLCA | 1 |
p.A408V | KIRC | 1 |
p.G86V | STAD | 1 |
p.P384S | UCEC | 1 |
p.R466W | LGG | 1 |
p.P504L | SKCM | 1 |
p.P289A | UVM | 1 |
p.E333K | CESC | 1 |
p.C406Y | COAD | 1 |
p.P359T | BLCA | 1 |
p.P356T | BLCA | 1 |
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TissGeneCNV for ACD |
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 ACD |
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 |
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TissGeneNet for ACD |
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 ACD |
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. |
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. |
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. |
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 ACD |
TissGeneDrug for ACD |
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 ACD |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0027877 | Neuronal Ceroid-Lipofuscinoses | 5 | BeFree |
umls:C0022340 | Late-Infantile Neuronal Ceroid Lipfuscinosis | 4 | BeFree |
umls:C0017605 | Angle Closure Glaucoma | 2 | BeFree |
umls:C0019693 | HIV Infections | 2 | BeFree |
umls:C0000768 | Congenital Abnormality | 1 | BeFree |
umls:C0002874 | Aplastic Anemia | 1 | BeFree |
umls:C0003081 | Anisometropia | 1 | BeFree |
umls:C0005956 | Bone Marrow Diseases | 1 | BeFree |
umls:C0006142 | Malignant neoplasm of breast | 1 | GAD |
umls:C0007134 | Renal Cell Carcinoma | 1 | BeFree |
umls:C0007222 | Cardiovascular Diseases | 1 | GAD |
umls:C0007820 | Cerebrovascular Disorders | 1 | GAD |
umls:C0008626 | Congenital chromosomal disease | 1 | BeFree |
umls:C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | BeFree |
umls:C0023434 | Chronic Lymphocytic Leukemia | 1 | BeFree |
umls:C0024115 | Lung diseases | 1 | BeFree |
umls:C0025202 | melanoma | 1 | BeFree |
umls:C0030312 | Pancytopenia | 1 | BeFree |
umls:C0221357 | Brachydactyly | 1 | BeFree |
umls:C0265223 | Cohen syndrome | 1 | BeFree |
umls:C0265965 | Dyskeratosis Congenita | 1 | BeFree |
umls:C0334054 | cystic disease | 1 | BeFree |
umls:C0752125 | Spinocerebellar Ataxia Type 7 | 1 | BeFree |
umls:C0948008 | Ischemic stroke | 1 | BeFree |
umls:C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | BeFree |
umls:C1512419 | Hereditary Melanoma | 1 | BeFree |
umls:C1846142 | HOYERAAL-HREIDARSSON SYNDROME | 1 | BeFree,ORPHANET |
umls:C1859974 | GLUCOCORTICOID DEFICIENCY 1 | 1 | BeFree |
umls:C2239176 | Liver carcinoma | 1 | BeFree |
umls:C3272363 | Ischemic Cerebrovascular Accident | 1 | BeFree |