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TissGeneSummary for POF1B |
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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. |
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GO ID | GO term | PubMed ID |
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TissGeneExp for POF1B |
![]() (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 |
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 |
![]() (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 |
![]() 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.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 |
![]() (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for POF1B |
![]() (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 |
![]() (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for POF1B |
![]() (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 POF1B |
TissGeneDrug for POF1B |
![]() (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 |
![]() (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 |