TissGeneSummary for JAKMIP1 |
Gene summary |
Basic gene information | Gene symbol | JAKMIP1 |
Gene name | janus kinase and microtubule interacting protein 1 | |
Synonyms | Gababrbp|JAMIP1|MARLIN1 | |
Cytomap | UCSC genome browser: 4p16.1 | |
Type of gene | protein-coding | |
RefGenes | NM_001099433.1, NM_144720.3, | |
Description | GABA-B receptor-binding proteinJak and microtubule interacting protein 1janus kinase and microtubule-interacting protein 1marlin-1multiple alpha-helices and RNA-linker protein 1multiple coiled-coil GABABR1-binding protein | |
Modification date | 20141207 | |
dbXrefs | MIM : 611195 | |
HGNC : HGNC | ||
Ensembl : ENSG00000152969 | ||
HPRD : 11292 | ||
Vega : OTTHUMG00000125491 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_JAKMIP1 | |
BioGPS: 152789 | ||
Pathway | NCI Pathway Interaction Database: JAKMIP1 | |
KEGG: JAKMIP1 | ||
REACTOME: JAKMIP1 | ||
Pathway Commons: JAKMIP1 | ||
Context | iHOP: JAKMIP1 | |
ligand binding site mutation search in PubMed: JAKMIP1 | ||
UCL Cancer Institute: JAKMIP1 | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | HPA,TiGER | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | BrainEye | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | GBM,LGGUVM | |
Reference showing the relevant tissue of JAKMIP1 | ||
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 JAKMIP1 |
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 |
THCA | -0.321582089 | 1.086539945 | -1.408122034 | 2.40E-07 | 9.97E-07 |
BRCA | 0.50733379 | -1.661177614 | 2.168511404 | 6.15E-22 | 5.10E-21 |
KIRC | 0.760008424 | -2.242822131 | 3.002830556 | 3.48E-25 | 4.26E-24 |
KIRP | -0.584869006 | -1.873490881 | 1.288621875 | 0.000866 | 0.002426965 |
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TissGene-miRNA for JAKMIP1 |
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 JAKMIP1 |
TissGeneSNV for JAKMIP1 |
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.R289Q | ESCA | 2 |
p.R262K | SKCM | 2 |
p.V544I | UCEC | 1 |
p.E78K | STAD | 1 |
p.A136V | PAAD | 1 |
p.E472K | ESCA | 1 |
p.L72P | STAD | 1 |
p.A761V | COAD | 1 |
p.P266R | LIHC | 1 |
p.E507K | LUSC | 1 |
p.D411N | SKCM | 1 |
p.L671F | LGG | 1 |
p.C489F | LUAD | 1 |
p.E369X | READ | 1 |
p.S458F | SKCM | 1 |
p.E602Q | BLCA | 1 |
p.A140E | HNSC | 1 |
p.R426P | SKCM | 1 |
p.E711* | LUAD | 1 |
p.E568K | SKCM | 1 |
p.E252K | ACC | 1 |
p.R101C | HNSC | 1 |
p.E363X | ESCA | 1 |
p.D391N | SKCM | 1 |
p.R517M | SKCM | 1 |
p.A375E | LUAD | 1 |
p.Q666P | SKCM | 1 |
p.E363K | SKCM | 1 |
p.R121C | STAD | 1 |
p.T16M | PAAD | 1 |
p.R321C | THCA | 1 |
p.R6Q | COAD | 1 |
p.R112Q | PRAD | 1 |
p.R63Q | SKCM | 1 |
p.E138K | SKCM | 1 |
p.A67T | STAD | 1 |
p.R162H | COAD | 1 |
p.E25Q | LUSC | 1 |
p.E317* | UCEC | 1 |
p.P265Q | LIHC | 1 |
p.R64W | STAD | 1 |
p.A375V | STAD | 1 |
p.E602K | UCEC | 1 |
p.T130M | LGG | 1 |
p.Q740R | ESCA | 1 |
p.G269E | COAD | 1 |
p.R531K | SKCM | 1 |
p.R421C | COAD | 1 |
p.K342T | STAD | 1 |
p.K691N | UCEC | 1 |
p.R63Q | COAD | 1 |
p.E472K | SKCM | 1 |
p.G668V | ESCA | 1 |
p.K435N | LUAD | 1 |
p.N336S | UCEC | 1 |
p.R794I | UCEC | 1 |
p.L504M | SKCM | 1 |
p.C674Y | UCEC | 1 |
p.E40K | LUSC | 1 |
p.R58C | BLCA | 1 |
p.R657K | SKCM | 1 |
p.G90R | SKCM | 1 |
p.R321C | STAD | 1 |
p.R807W | UCEC | 1 |
p.E775Q | SARC | 1 |
p.E296* | LUAD | 1 |
p.R255W | UCEC | 1 |
p.A826V | LIHC | 1 |
p.T512M | BLCA | 1 |
p.A749V | UCEC | 1 |
p.T102I | SKCM | 1 |
p.E642K | CESC | 1 |
p.R481Q | HNSC | 1 |
p.E89K | SKCM | 1 |
p.E660Q | STAD | 1 |
p.R289Q | UCEC | 1 |
p.E537K | SKCM | 1 |
p.R6W | OV | 1 |
p.R421H | PAAD | 1 |
p.R184C | GBM | 1 |
p.L360F | SKCM | 1 |
p.G747D | LIHC | 1 |
p.G668* | ESCA | 1 |
p.R466K | UCEC | 1 |
p.P742L | CESC | 1 |
p.A100S | LUAD | 1 |
p.E200K | LUAD | 1 |
p.Q590X | SKCM | 1 |
p.E334K | SKCM | 1 |
p.E620K | COAD | 1 |
p.Q62K | HNSC | 1 |
p.E107K | SKCM | 1 |
p.E472K | PRAD | 1 |
p.K3R | ACC | 1 |
p.E96K | STAD | 1 |
p.R203C | COAD | 1 |
p.T116M | BLCA | 1 |
p.E620K | KIRP | 1 |
p.F625C | BRCA | 1 |
p.R426Q | LUAD | 1 |
p.E202K | SKCM | 1 |
p.D648H | BLCA | 1 |
p.E602K | SKCM | 1 |
p.D616N | SKCM | 1 |
p.R162C | STAD | 1 |
p.D652N | SKCM | 1 |
p.A587S | THYM | 1 |
p.E518K | SKCM | 1 |
p.R466K | SKCM | 1 |
p.E109Q | LUAD | 1 |
p.E59K | COAD | 1 |
p.R766H | READ | 1 |
p.Q246K | LIHC | 1 |
p.E334* | STAD | 1 |
p.E799K | SKCM | 1 |
p.E602K | HNSC | 1 |
p.L643P | SKCM | 1 |
p.R657I | UCEC | 1 |
p.E523K | SKCM | 1 |
p.R379W | READ | 1 |
p.D586Y | STAD | 1 |
p.R362W | BRCA | 1 |
p.E334X | STAD | 1 |
p.D589N | LGG | 1 |
p.S299* | STAD | 1 |
p.E296K | OV | 1 |
p.R338W | STAD | 1 |
p.A687T | STAD | 1 |
p.A501T | STAD | 1 |
p.K691Q | UCEC | 1 |
p.P12L | SKCM | 1 |
p.L360I | LUAD | 1 |
p.E415D | LUSC | 1 |
p.E305K | SKCM | 1 |
p.E13K | BLCA | 1 |
p.E59K | KIRP | 1 |
p.E396K | UCEC | 1 |
p.R321C | HNSC | 1 |
p.V287A | STAD | 1 |
p.S624I | LIHC | 1 |
p.Q661E | LUSC | 1 |
p.A115T | SKCM | 1 |
p.A672V | UCEC | 1 |
p.G614R | HNSC | 1 |
p.G668X | ESCA | 1 |
p.D462N | SKCM | 1 |
p.R64W | HNSC | 1 |
p.R302Q | LUAD | 1 |
p.E211D | COAD | 1 |
p.Q590* | SKCM | 1 |
p.D391G | UCEC | 1 |
p.R362Q | HNSC | 1 |
p.R493W | STAD | 1 |
p.E583K | SKCM | 1 |
p.L611R | UCEC | 1 |
p.K645N | UCEC | 1 |
p.L475F | OV | 1 |
p.F441V | LUAD | 1 |
p.F397L | SKCM | 1 |
p.G683E | SKCM | 1 |
p.T116M | STAD | 1 |
p.G747S | READ | 1 |
p.E568G | HNSC | 1 |
p.R784H | CESC | 1 |
p.V248G | ESCA | 1 |
p.S299X | STAD | 1 |
p.R289Q | COAD | 1 |
p.A100V | STAD | 1 |
p.E494K | SKCM | 1 |
p.R522L | THCA | 1 |
p.M339I | SKCM | 1 |
p.D474Y | READ | 1 |
p.P266H | LUAD | 1 |
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TissGeneCNV for JAKMIP1 |
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 JAKMIP1 |
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 | BRCA | TCGA-D8-A27R-01A | LUC7L2-JAKMIP1 | 5'UTR-5'UTR | chr7:139045068 | chr4:6114724 |
TCGAfusionPortal | PRADA | BRCA | TCGA-D8-A27R-01A | LUC7L2-JAKMIP1 | CDS-5UTR | Chr7:139045068 | Chr4:6114724 |
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TissGeneNet for JAKMIP1 |
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 JAKMIP1 |
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 JAKMIP1 |
TissGeneDrug for JAKMIP1 |
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 JAKMIP1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0004352 | Autistic Disorder | 1 | CTD_human |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C1510586 | Autism Spectrum Disorders | 1 | BeFree |