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| TissGeneSummary for POF1B |
 Gene summary |
| Basic gene information | Gene symbol | POF1B |
| Gene name | premature ovarian failure, 1B | |
| Synonyms | POF|POF2B | |
| Cytomap | UCSC genome browser: Xq21.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_024921.3, | |
| Description | premature ovarian failure protein 1Bprotein POF1B | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 300603 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000124429 | ||
| HPRD : 06679 | ||
| Vega : OTTHUMG00000021934 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_POF1B | |
| BioGPS: 79983 | ||
| Pathway | NCI Pathway Interaction Database: POF1B | |
| KEGG: POF1B | ||
| REACTOME: POF1B | ||
| Pathway Commons: POF1B | ||
| Context | iHOP: POF1B | |
| ligand binding site mutation search in PubMed: POF1B | ||
| UCL Cancer Institute: POF1B | ||
| 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) | ColonSkinStomach | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | COADSKCMSTAD | |
| Reference showing the relevant tissue of POF1B | ||
| 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 POF1B |
| 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 | 1.668507667 | -0.168921745 | 1.837429412 | 3.74E-06 | 8.89E-06 |
| KICH | -4.473091549 | 0.343860451 | -4.816952 | 5.23E-11 | 4.33E-10 |
| THCA | -3.669809515 | -2.260775617 | -1.409033898 | 8.63E-07 | 3.29E-06 |
| PRAD | -1.031668087 | 0.399353066 | -1.431021154 | 5.05E-06 | 3.08E-05 |
| KIRC | -1.749703771 | 0.397647618 | -2.147351389 | 5.99E-08 | 1.70E-07 |
| STAD | 4.194384076 | 2.770496576 | 1.4238875 | 0.0158 | 0.04901269 |
| LUAD | 0.779635692 | -0.324971204 | 1.104606897 | 0.0015 | 0.003192125 |
| HNSC | 2.869426591 | 4.170926591 | -1.3015 | 0.000631 | 0.00227524 |
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| TissGene-miRNA for POF1B |
| 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 POF1B |
| TissGeneSNV for POF1B |
| 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.D362N | SKCM | 2 |
| p.R543S | LUAD | 2 |
| p.G494E | SKCM | 2 |
| p.E421K | SKCM | 2 |
| p.E296K | SKCM | 1 |
| p.L328F | UCS | 1 |
| p.R266H | LGG | 1 |
| p.H190Y | UCS | 1 |
| p.R552K | SKCM | 1 |
| p.P144A | SARC | 1 |
| p.E432D | COAD | 1 |
| p.H157Y | SKCM | 1 |
| p.E462K | SKCM | 1 |
| p.Y316N | LUAD | 1 |
| p.M453I | SKCM | 1 |
| p.T269M | SKCM | 1 |
| p.P77T | THYM | 1 |
| p.R519H | STAD | 1 |
| p.Q214R | DLBC | 1 |
| p.K45Q | GBM | 1 |
| p.K452R | SKCM | 1 |
| p.R339W | COAD | 1 |
| p.P556L | SKCM | 1 |
| p.R266H | DLBC | 1 |
| p.H504Y | SKCM | 1 |
| p.E462Q | LUAD | 1 |
| p.M357R | READ | 1 |
| p.S515F | SKCM | 1 |
| p.H278Q | LUAD | 1 |
| p.C476* | LUAD | 1 |
| p.D288N | UCEC | 1 |
| p.E530X | COAD | 1 |
| p.S104C | UCEC | 1 |
| p.E580K | SKCM | 1 |
| p.K452E | LUAD | 1 |
| p.L230Q | LIHC | 1 |
| p.S333C | ESCA | 1 |
| p.L328I | LUAD | 1 |
| p.D348N | SKCM | 1 |
| p.R72W | GBM | 1 |
| p.R339W | LGG | 1 |
| p.E583K | SKCM | 1 |
| p.T269M | ESCA | 1 |
| p.D246N | SKCM | 1 |
| p.L345F | LUSC | 1 |
| p.P144L | SKCM | 1 |
| p.E455K | LUAD | 1 |
| p.R51Q | SKCM | 1 |
| p.M357I | SKCM | 1 |
| p.G161R | LUAD | 1 |
| p.H31N | LUAD | 1 |
| p.H232N | LUAD | 1 |
| p.E432D | BLCA | 1 |
| p.S98Y | UCEC | 1 |
| p.V141L | LGG | 1 |
| p.E174D | UCEC | 1 |
| p.L449W | SKCM | 1 |
| p.P77S | SKCM | 1 |
| p.P303L | SKCM | 1 |
| p.E455D | SARC | 1 |
| p.E277K | SKCM | 1 |
| p.H273Y | SKCM | 1 |
| p.E462* | LUSC | 1 |
| p.R437I | UCEC | 1 |
| p.T169P | SKCM | 1 |
| p.V52M | SKCM | 1 |
| p.G284E | SKCM | 1 |
| p.S413* | PRAD | 1 |
| p.R339Q | SKCM | 1 |
| p.H225Y | LGG | 1 |
| p.D367Y | LIHC | 1 |
| p.K45Q | UCEC | 1 |
| p.E505K | SKCM | 1 |
| p.S83T | SKCM | 1 |
| p.G227A | LUAD | 1 |
| p.Q212K | STAD | 1 |
| p.R329Q | DLBC | 1 |
| p.T81I | SKCM | 1 |
| p.V140E | UCEC | 1 |
| p.T461M | UCEC | 1 |
| p.Q185E | BRCA | 1 |
| p.L467* | BLCA | 1 |
| p.Q500* | SKCM | 1 |
| p.P58L | SKCM | 1 |
| p.Q40K | HNSC | 1 |
| p.G305R | SKCM | 1 |
| p.G218E | SKCM | 1 |
| p.E470K | SKCM | 1 |
| p.D293N | SKCM | 1 |
| p.S407F | SKCM | 1 |
| p.E566K | SKCM | 1 |
| p.R427H | UCEC | 1 |
| p.P43S | SKCM | 1 |
| p.G284V | LUAD | 1 |
| p.D325N | SKCM | 1 |
| p.F499S | SKCM | 1 |
| p.K356* | LUAD | 1 |
| p.F159L | UCEC | 1 |
| p.R409* | UCEC | 1 |
| p.T100I | SKCM | 1 |
| p.Y316* | LUAD | 1 |
| p.L406V | SKCM | 1 |
| p.K45R | GBM | 1 |
| p.Q554* | UCEC | 1 |
| p.S521P | LUAD | 1 |
| p.P254A | LUAD | 1 |
| p.D367E | LUAD | 1 |
| p.Q369K | LUAD | 1 |
| p.R418K | SKCM | 1 |
| p.M59I | LUAD | 1 |
| p.D454N | SKCM | 1 |
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| TissGeneCNV for POF1B |
| 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 POF1B |
| 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 POF1B |
| 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) |
| POF1B, COPS5, UCHL5 (tumor) | POF1B, COPS5, UCHL5 (normal) |
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| COAD (tumor) | COAD (normal) |
| POF1B, COPS5, UCHL5 (tumor) | POF1B, COPS5, UCHL5 (normal) |
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| HNSC (tumor) | HNSC (normal) |
| POF1B, COPS5, UCHL5 (tumor) | POF1B, COPS5, UCHL5 (normal) |
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| KICH (tumor) | KICH (normal) |
| POF1B, COPS5, UCHL5 (tumor) | POF1B, COPS5, UCHL5 (normal) |
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| KIRC (tumor) | KIRC (normal) |
| POF1B, COPS5, UCHL5 (tumor) | POF1B, COPS5, UCHL5 (normal) |
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| KIRP (tumor) | KIRP (normal) |
| POF1B, COPS5, UCHL5 (tumor) | POF1B, COPS5, UCHL5 (normal) |
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| LIHC (tumor) | LIHC (normal) |
| POF1B, COPS5, UCHL5 (tumor) | POF1B, COPS5, UCHL5 (normal) |
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| LUAD (tumor) | LUAD (normal) |
| POF1B, COPS5, UCHL5 (tumor) | POF1B, COPS5, UCHL5 (normal) |
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| LUSC (tumor) | LUSC (normal) |
| POF1B, COPS5, UCHL5 (tumor) | POF1B, COPS5, UCHL5 (normal) |
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| PRAD (tumor) | PRAD (normal) |
| POF1B, COPS5, UCHL5 (tumor) | POF1B, COPS5, UCHL5 (normal) |
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| STAD (tumor) | STAD (normal) |
| POF1B, COPS5, UCHL5 (tumor) | POF1B, COPS5, UCHL5 (normal) |
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| THCA (tumor) | THCA (normal) |
| POF1B, COPS5, UCHL5 (tumor) | POF1B, COPS5, UCHL5 (normal) |
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| TissGeneProg for POF1B |
| 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 POF1B |
| TissGeneDrug for POF1B |
| 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 POF1B |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0085215 | Ovarian Failure, Premature | 6 | BeFree |
| umls:C0025322 | Premature Menopause | 4 | BeFree |
| umls:C0747102 | Ovarian failure | 2 | BeFree |
| umls:C0002453 | Amenorrhea | 1 | BeFree |
| umls:C0002736 | Amyotrophic Lateral Sclerosis | 1 | GAD |
| umls:C0037274 | Dermatologic disorders | 1 | BeFree |
| umls:C1561535 | Creatinine finding | 1 | GAD |
| umls:C1561549 | Glomerular filtration rate finding | 1 | GAD |
| umls:C1845105 | Premature Ovarian Failure 2b | 1 | CLINVAR,CTD_human,UNIPROT |
| umls:C3839507 | Diminished ovarian reserve | 1 | BeFree |
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