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TissGeneSummary for AFM |
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Basic gene information | Gene symbol | AFM |
Gene name | afamin | |
Synonyms | ALB2|ALBA|ALF | |
Cytomap | UCSC genome browser: 4q13.3 | |
Type of gene | protein-coding | |
RefGenes | NM_001133.2, | |
Description | alpha-Albalpha-albumin | |
Modification date | 20141207 | |
dbXrefs | MIM : 104145 | |
HGNC : HGNC | ||
Ensembl : ENSG00000079557 | ||
HPRD : 00073 | ||
Vega : OTTHUMG00000130004 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_AFM | |
BioGPS: 173 | ||
Pathway | NCI Pathway Interaction Database: AFM | |
KEGG: AFM | ||
REACTOME: AFM | ||
Pathway Commons: AFM | ||
Context | iHOP: AFM | |
ligand binding site mutation search in PubMed: AFM | ||
UCL Cancer Institute: AFM | ||
Assigned class in TissGDB* | A | |
Included tissue-specific gene expression resources | HPA,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 AFM | Cortical bone mechanical properties are altered in an animal model of progressive chronic kidney disease. Newman CL, Moe SM, Chen NX, Hammond MA, Wallace JM, Nyman JS, Allen MR. PLoS One. 2014 Jun 9;9(6):e99262. doi: 10.1371/journal.pone.0099262. eCollection 2014. (pmid:24911162) go to article | |
Description by TissGene annotations | TissgsKTS CNV gained TissGeneKTS |
* 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. |
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GO ID | GO term | PubMed ID | GO:0051180 | vitamin transport | 19046407 | GO:0051180 | vitamin transport | 19046407 |
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TissGeneExp for AFM |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
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![]() (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
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![]() (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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![]() (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 | -0.494967841 | 4.970960159 | -5.465928 | 7.19E-08 | 3.38E-07 |
KIRC | 2.000736659 | 5.949393604 | -3.948656944 | 6.92E-11 | 2.51E-10 |
LIHC | 9.736680159 | 13.07823816 | -3.341558 | 1.42E-09 | 1.50E-08 |
KIRP | 0.276758534 | 7.032792909 | -6.756034375 | 6.84E-13 | 1.13E-11 |
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TissGene-miRNA for AFM |
![]() (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 AFM |
TissGeneSNV for AFM |
![]() 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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![]() (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.D28N | SKCM | 2 |
p.R27W | SKCM | 2 |
p.G331E | SKCM | 2 |
p.E96K | SKCM | 2 |
p.F573L | THYM | 1 |
p.T463M | READ | 1 |
p.R121G | OV | 1 |
p.G392D | COAD | 1 |
p.I43T | LUAD | 1 |
p.A175S | ESCA | 1 |
p.E388K | HNSC | 1 |
p.D325N | SKCM | 1 |
p.F125L | READ | 1 |
p.S131F | SKCM | 1 |
p.D364E | SARC | 1 |
p.Y54C | COAD | 1 |
p.C224R | KIRC | 1 |
p.Q203* | SKCM | 1 |
p.E145D | UCEC | 1 |
p.A352V | UCEC | 1 |
p.T281M | UCEC | 1 |
p.A215S | ESCA | 1 |
p.F162L | SKCM | 1 |
p.F12L | BLCA | 1 |
p.Q106H | UCEC | 1 |
p.I307M | COAD | 1 |
p.S19F | SKCM | 1 |
p.L432F | SKCM | 1 |
p.C483R | PRAD | 1 |
p.L158I | LUAD | 1 |
p.K582N | UCEC | 1 |
p.R310C | STAD | 1 |
p.N170I | BLCA | 1 |
p.F247I | SKCM | 1 |
p.S244G | GBM | 1 |
p.R279L | CESC | 1 |
p.E254K | SKCM | 1 |
p.E309D | LUAD | 1 |
p.T463M | ESCA | 1 |
p.T387K | LUAD | 1 |
p.A515V | BLCA | 1 |
p.E30D | UCEC | 1 |
p.L422F | SKCM | 1 |
p.H362R | UCEC | 1 |
p.G311C | BLCA | 1 |
p.E564K | SKCM | 1 |
p.E61K | BLCA | 1 |
p.P248L | SKCM | 1 |
p.R360K | SKCM | 1 |
p.V448M | SKCM | 1 |
p.T180I | COAD | 1 |
p.F468S | KIRP | 1 |
p.A175T | UCEC | 1 |
p.N383D | COAD | 1 |
p.S217Y | UCEC | 1 |
p.A352G | HNSC | 1 |
p.E72Q | HNSC | 1 |
p.K305N | UCEC | 1 |
p.A79T | THCA | 1 |
p.M63I | READ | 1 |
p.R549_splice | GBM | 1 |
p.A457S | PRAD | 1 |
p.G272E | SKCM | 1 |
p.Q441X | LIHC | 1 |
p.S294A | THCA | 1 |
p.Y212N | SKCM | 1 |
p.C148Y | STAD | 1 |
p.A397T | GBM | 1 |
p.M285I | SKCM | 1 |
p.F350L | UCEC | 1 |
p.E467Q | LUSC | 1 |
p.R279H | STAD | 1 |
p.S131Y | LGG | 1 |
p.S257Y | COAD | 1 |
p.A175T | LGG | 1 |
p.L464P | STAD | 1 |
p.R395C | LGG | 1 |
p.D472N | SKCM | 1 |
p.F60Y | LUSC | 1 |
p.S87L | HNSC | 1 |
p.V274G | BLCA | 1 |
p.E466K | SKCM | 1 |
p.E165Q | BLCA | 1 |
p.S336N | SKCM | 1 |
p.E309Q | ESCA | 1 |
p.M535L | GBM | 1 |
p.T349N | LUAD | 1 |
p.D563V | LUAD | 1 |
p.A345V | LUAD | 1 |
p.T463M | THCA | 1 |
p.K410N | BRCA | 1 |
p.D143N | SKCM | 1 |
p.L258P | GBM | 1 |
p.E57K | SKCM | 1 |
p.A533T | GBM | 1 |
p.R279C | READ | 1 |
p.E62K | SKCM | 1 |
p.T281_splice | UCEC | 1 |
p.A494D | READ | 1 |
p.E487K | SKCM | 1 |
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TissGeneCNV for AFM |
![]() (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for AFM |
![]() (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 | L32140 | HNF4G-AFM | chr8:76327933 | chr4:74347463 |
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TissGeneNet for AFM |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for AFM |
![]() (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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![]() (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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![]() (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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![]() (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 AFM |
TissGeneDrug for AFM |
![]() (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for AFM |
![]() (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0004134 | Ataxia | 1 | BeFree |
umls:C0019163 | Hepatitis B | 1 | BeFree |
umls:C0019196 | Hepatitis C | 1 | BeFree |
umls:C0023895 | Liver diseases | 1 | BeFree |
umls:C0023903 | Liver neoplasms | 1 | BeFree |
umls:C0025362 | Mental Retardation | 1 | BeFree |
umls:C0029925 | Ovarian Carcinoma | 1 | BeFree |
umls:C0162557 | Liver Failure, Acute | 1 | BeFree |
umls:C0338508 | Optic Atrophy, Autosomal Dominant | 1 | BeFree |
umls:C0376358 | Malignant neoplasm of prostate | 1 | GWASCAT |
umls:C0751157 | FRAXE Syndrome | 1 | BeFree |
umls:C1140680 | Malignant neoplasm of ovary | 1 | BeFree |
umls:C2239176 | Liver carcinoma | 1 | BeFree |