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| TissGeneSummary for AXDND1 |
 Gene summary |
| Basic gene information | Gene symbol | AXDND1 |
| Gene name | axonemal dynein light chain domain containing 1 | |
| Synonyms | C1orf125 | |
| Cytomap | UCSC genome browser: 1q25.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_182766.2, NM_144696.5,NR_073544.1, | |
| Description | axonemal dynein light chain domain-containing protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000162779 | ||
| HPRD : 08740 | ||
| Vega : OTTHUMG00000035266 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_AXDND1 | |
| BioGPS: 126859 | ||
| Pathway | NCI Pathway Interaction Database: AXDND1 | |
| KEGG: AXDND1 | ||
| REACTOME: AXDND1 | ||
| Pathway Commons: AXDND1 | ||
| Context | iHOP: AXDND1 | |
| ligand binding site mutation search in PubMed: AXDND1 | ||
| UCL Cancer Institute: AXDND1 | ||
| Assigned class in TissGDB* | B | |
| Included tissue-specific gene expression resources | HPA,TiGER,GTEx | |
| Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | Testis | |
| Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
| Reference showing the relevant tissue of AXDND1 | ||
| 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 AXDND1 |
| 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) |
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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) |
| - 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 |
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| TissGene-miRNA for AXDND1 |
| 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 AXDND1 |
| TissGeneSNV for AXDND1 |
| 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.E991Q | LIHC | 7 |
| p.M705I | SKCM | 3 |
| p.E863K | SKCM | 3 |
| p.E550K | SKCM | 2 |
| p.R318H | UCEC | 2 |
| p.E427K | SKCM | 2 |
| p.E994Q | STAD | 2 |
| p.E637K | SKCM | 2 |
| p.R46C | SKCM | 2 |
| p.R414I | COAD | 2 |
| p.P657S | SKCM | 1 |
| p.M773I | SKCM | 1 |
| p.K23N | UCEC | 1 |
| p.S704F | SKCM | 1 |
| p.R313G | LUAD | 1 |
| p.M264T | LUAD | 1 |
| p.E190Q | BLCA | 1 |
| p.K356E | STAD | 1 |
| p.E837K | SKCM | 1 |
| p.E898K | SKCM | 1 |
| p.R743G | GBM | 1 |
| p.E750K | SKCM | 1 |
| p.R574G | HNSC | 1 |
| p.H436Y | COAD | 1 |
| p.H892Y | SKCM | 1 |
| p.D304G | STAD | 1 |
| p.I161T | UCEC | 1 |
| p.K137I | LUAD | 1 |
| p.K20E | BLCA | 1 |
| p.E569K | SKCM | 1 |
| p.V314L | DLBC | 1 |
| p.D304N | UCEC | 1 |
| p.G740E | SKCM | 1 |
| p.K754T | KIRP | 1 |
| p.E479Q | BLCA | 1 |
| p.R152H | PRAD | 1 |
| p.L189V | UCEC | 1 |
| p.A923S | LUSC | 1 |
| p.D533G | LUAD | 1 |
| p.N42H | UCEC | 1 |
| p.K643* | SKCM | 1 |
| p.E634K | SKCM | 1 |
| p.E321K | SKCM | 1 |
| p.A354V | ESCA | 1 |
| p.E525K | SKCM | 1 |
| p.V329F | HNSC | 1 |
| p.D540N | SKCM | 1 |
| p.Q981* | SKCM | 1 |
| p.T456A | BLCA | 1 |
| p.E976K | CESC | 1 |
| p.F897L | LIHC | 1 |
| p.E936Q | LUSC | 1 |
| p.H954Y | SKCM | 1 |
| p.E887K | SKCM | 1 |
| p.R940G | CESC | 1 |
| p.P503L | SKCM | 1 |
| p.R106G | KIRP | 1 |
| p.E332* | UCEC | 1 |
| p.S1005* | LUAD | 1 |
| p.R999S | LUAD | 1 |
| p.R883* | UCEC | 1 |
| p.S733I | LUAD | 1 |
| p.M264I | SKCM | 1 |
| p.L80S | UCEC | 1 |
| p.E943V | KIRP | 1 |
| p.S1007P | BLCA | 1 |
| p.A299D | COAD | 1 |
| p.E979K | SKCM | 1 |
| p.P718L | LUSC | 1 |
| p.P625S | SKCM | 1 |
| p.W430C | LUSC | 1 |
| p.S511L | BLCA | 1 |
| p.I438V | COAD | 1 |
| p.R562Q | STAD | 1 |
| p.A403G | SARC | 1 |
| p.E990Q | LGG | 1 |
| p.K143N | LUAD | 1 |
| p.E573K | SKCM | 1 |
| p.S537* | BLCA | 1 |
| p.R290S | CESC | 1 |
| p.E204* | UCEC | 1 |
| p.M716R | HNSC | 1 |
| p.E930D | READ | 1 |
| p.T752K | HNSC | 1 |
| p.E686K | SKCM | 1 |
| p.R300Q | ESCA | 1 |
| p.H376R | PRAD | 1 |
| p.F838C | BLCA | 1 |
| p.Y131F | LUAD | 1 |
| p.A365V | GBM | 1 |
| p.S47L | BLCA | 1 |
| p.I803M | BLCA | 1 |
| p.V26A | UCEC | 1 |
| p.V463A | STAD | 1 |
| p.S1007F | STAD | 1 |
| p.W101C | LIHC | 1 |
| p.A70V | ESCA | 1 |
| p.Q861* | SKCM | 1 |
| p.K167N | READ | 1 |
| p.G429D | SKCM | 1 |
| p.E964V | LUSC | 1 |
| p.R743X | READ | 1 |
| p.L320F | BLCA | 1 |
| p.G122R | SKCM | 1 |
| p.K543N | PAAD | 1 |
| p.K878M | HNSC | 1 |
| p.S610N | PRAD | 1 |
| p.Y375S | ESCA | 1 |
| p.S128P | LIHC | 1 |
| p.P503S | SKCM | 1 |
| p.E994Q | COAD | 1 |
| p.D533N | SKCM | 1 |
| p.A408T | SKCM | 1 |
| p.P60H | LUAD | 1 |
| p.S611C | HNSC | 1 |
| p.D132N | UCEC | 1 |
| p.D540N | COAD | 1 |
| p.K465I | MESO | 1 |
| p.I595R | UCEC | 1 |
| p.D888E | SKCM | 1 |
| p.E322* | UCEC | 1 |
| p.K945Q | PAAD | 1 |
| p.E567D | LUAD | 1 |
| p.Y379S | SKCM | 1 |
| p.W101R | LUAD | 1 |
| p.I319L | LUAD | 1 |
| p.N561I | LUSC | 1 |
| p.E889K | SKCM | 1 |
| p.K796_splice | LUSC | 1 |
| p.E62X | READ | 1 |
| p.S644L | SKCM | 1 |
| p.Y756C | UCEC | 1 |
| p.E920K | SKCM | 1 |
| p.W400S | LUSC | 1 |
| p.R318H | COAD | 1 |
| p.V656F | ESCA | 1 |
| p.R271Q | GBM | 1 |
| p.W459* | SARC | 1 |
| p.A361S | UCEC | 1 |
| p.E590D | SKCM | 1 |
| p.I489T | LUAD | 1 |
| p.L449V | BLCA | 1 |
| p.Q992E | LGG | 1 |
| p.E898D | LUAD | 1 |
| p.Q993E | COAD | 1 |
| p.E479A | GBM | 1 |
| p.D377Y | UCS | 1 |
| p.C765F | UCEC | 1 |
| p.K505Q | HNSC | 1 |
| p.E384D | COAD | 1 |
| p.S1000T | LUAD | 1 |
| p.H737N | LUAD | 1 |
| p.E176K | LUAD | 1 |
| p.P35A | SKCM | 1 |
| p.L320* | HNSC | 1 |
| p.D115N | BLCA | 1 |
| p.R422I | READ | 1 |
| p.T121I | COAD | 1 |
| p.S733I | BLCA | 1 |
| p.H355Y | SKCM | 1 |
| p.M675I | LUSC | 1 |
| p.D344N | UCEC | 1 |
| p.L605I | COAD | 1 |
| p.E943D | UCEC | 1 |
| p.Q155L | OV | 1 |
| p.I127F | STAD | 1 |
| p.W802* | LUSC | 1 |
| p.R271* | SARC | 1 |
| p.Y379* | LUSC | 1 |
| p.E590* | UCEC | 1 |
| p.V470A | UCEC | 1 |
| p.Y291H | STAD | 1 |
| p.P83S | SKCM | 1 |
| p.N443K | LUAD | 1 |
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| TissGeneCNV for AXDND1 |
| 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 AXDND1 |
| 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 | ChiTaRs | NA | CA418371 | ATP5I-AXDND1 | chr4:668058 | chr1:179459898 | |
| Chimerdb3.0 | FusionScan | PRAD | TCGA-G9-6499-11A | MAPKAPK2-AXDND1 | In-Frame | chr1:206858853 | chr1:179497461 |
| Chimerdb3.0 | FusionScan | PRAD | TCGA-M7-A71Z-01A | YBX1-AXDND1 | Out-of-Frame | chr1:43149137 | chr1:179437577 |
| Chimerdb3.0 | TopHat-Fusion | PRAD | TCGA-G9-6499-11A | MAPKAPK2-AXDND1 | In-Frame | chr1:206858852 | chr1:179497461 |
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| TissGeneNet for AXDND1 |
| 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 AXDND1 |
| 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 AXDND1 |
| TissGeneDrug for AXDND1 |
| 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 AXDND1 |
| Disease information associated with TissGene (DisGeNet, 2016-06-01) |
| Disease ID | Disease name | # pubmeds | Source |
| umls:C0020538 | Hypertensive disease | 1 | GAD |
| umls:C0026769 | Multiple Sclerosis | 1 | GAD |
| umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
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