TissGeneSummary for DNAAF1 |
Gene summary |
Basic gene information | Gene symbol | DNAAF1 |
Gene name | dynein, axonemal, assembly factor 1 | |
Synonyms | CILD13|LRRC50|ODA7 | |
Cytomap | UCSC genome browser: 16q24.1 | |
Type of gene | protein-coding | |
RefGenes | NM_178452.4, | |
Description | dynein assembly factor 1, axonemalleucine rich repeat containing 50leucine-rich repeat-containing protein 50outer row dynein assembly 7 homolog | |
Modification date | 20141219 | |
dbXrefs | MIM : 613190 | |
HGNC : HGNC | ||
Ensembl : ENSG00000154099 | ||
HPRD : 14023 | ||
Vega : OTTHUMG00000128517 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_DNAAF1 | |
BioGPS: 123872 | ||
Pathway | NCI Pathway Interaction Database: DNAAF1 | |
KEGG: DNAAF1 | ||
REACTOME: DNAAF1 | ||
Pathway Commons: DNAAF1 | ||
Context | iHOP: DNAAF1 | |
ligand binding site mutation search in PubMed: DNAAF1 | ||
UCL Cancer Institute: DNAAF1 | ||
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) | Testis | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | TGCT | |
Reference showing the relevant tissue of DNAAF1 | ||
Description by TissGene annotations | Fused withTSGene |
* 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 DNAAF1 |
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 |
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TissGene-miRNA for DNAAF1 |
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 DNAAF1 |
TissGeneSNV for DNAAF1 |
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.E360K | SKCM | 2 |
p.R121C | COAD | 1 |
p.L659V | COAD | 1 |
p.G367V | PRAD | 1 |
p.E497K | BLCA | 1 |
p.R154C | PRAD | 1 |
p.A415T | HNSC | 1 |
p.T415I | GBM | 1 |
p.S562Y | UCEC | 1 |
p.E432K | SKCM | 1 |
p.A359V | PRAD | 1 |
p.A403D | STAD | 1 |
p.A293S | LUSC | 1 |
p.R94C | UCEC | 1 |
p.D435N | COAD | 1 |
p.T713M | UCEC | 1 |
p.A515V | SKCM | 1 |
p.P449S | SKCM | 1 |
p.E634K | SKCM | 1 |
p.E342Q | CESC | 1 |
p.P513S | SKCM | 1 |
p.G434E | SKCM | 1 |
p.W294C | LUAD | 1 |
p.P477L | CESC | 1 |
p.D280N | SKCM | 1 |
p.S395C | GBM | 1 |
p.K480M | SKCM | 1 |
p.V429I | SKCM | 1 |
p.G434R | SARC | 1 |
p.P285S | UCS | 1 |
p.E363* | LUAD | 1 |
p.A75T | BLCA | 1 |
p.R121H | LUSC | 1 |
p.S708N | PRAD | 1 |
p.P245T | LUAD | 1 |
p.Q706K | BLCA | 1 |
p.R271* | LUSC | 1 |
p.P245L | SKCM | 1 |
p.E586K | HNSC | 1 |
p.D80N | LUAD | 1 |
p.E302K | ESCA | 1 |
p.S228L | UCEC | 1 |
p.G440W | COAD | 1 |
p.D556G | COAD | 1 |
p.E339G | LIHC | 1 |
p.L147P | UCEC | 1 |
p.M160I | SKCM | 1 |
p.P391Q | LUAD | 1 |
p.S382R | GBM | 1 |
p.X726W | KIRC | 1 |
p.G52S | UCEC | 1 |
p.E145K | HNSC | 1 |
p.E353G | COAD | 1 |
p.P620S | ESCA | 1 |
p.P235S | KIRP | 1 |
p.L659P | COAD | 1 |
p.P469S | LUAD | 1 |
p.S675T | COAD | 1 |
p.T111M | GBM | 1 |
p.G466E | SARC | 1 |
p.G703E | SKCM | 1 |
p.E574* | BLCA | 1 |
p.K143I | LUSC | 1 |
p.T111M | PAAD | 1 |
p.P513S | UCEC | 1 |
p.S181C | HNSC | 1 |
p.T420N | UCEC | 1 |
p.Q658R | BLCA | 1 |
p.K98N | STAD | 1 |
p.R314W | THYM | 1 |
p.R248_splice | UCEC | 1 |
p.R488G | KIRP | 1 |
p.K315N | BLCA | 1 |
p.G298W | LUAD | 1 |
p.V51A | STAD | 1 |
p.E388K | SKCM | 1 |
p.E145K | SKCM | 1 |
p.D461N | ESCA | 1 |
p.P502L | COAD | 1 |
p.Q462R | HNSC | 1 |
p.S95L | UCEC | 1 |
p.E152D | LUAD | 1 |
p.E699D | BLCA | 1 |
p.E509K | SKCM | 1 |
p.R405K | CESC | 1 |
p.P500S | READ | 1 |
p.R636* | UCEC | 1 |
p.R618W | UCEC | 1 |
p.P46L | SKCM | 1 |
p.D110N | SKCM | 1 |
p.L592I | STAD | 1 |
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TissGeneCNV for DNAAF1 |
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 DNAAF1 |
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 | BG997808 | RGS7-DNAAF1 | chr1:241026273 | chr16:84203980 | |
Chimerdb3.0 | ChiTaRs | NA | BF848279 | DNAAF1-STK10 | chr16:84189315 | chr5:171579329 | |
Chimerdb3.0 | FusionScan | ESCA | TCGA-LN-A49L-01A | C16orf70-DNAAF1 | Out-of-Frame | chr16:67144142 | chr16:84193279 |
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TissGeneNet for DNAAF1 |
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 DNAAF1 |
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 DNAAF1 |
TissGeneDrug for DNAAF1 |
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 DNAAF1 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0022521 | Kartagener Syndrome | 3 | BeFree,CLINVAR |
umls:C0008780 | Ciliary Motility Disorders | 2 | BeFree |
umls:C0010709 | Cyst | 1 | BeFree |
umls:C0022679 | Cystic kidney | 1 | BeFree |
umls:C0022680 | Polycystic Kidney Diseases | 1 | BeFree |
umls:C0311245 | Congenital cystic kidney disease | 1 | BeFree |
umls:C1691228 | Cystic Kidney Diseases | 1 | BeFree,LHGDN |
umls:C2750790 | CILIARY DYSKINESIA, PRIMARY, 13 | 1 | CLINVAR,CTD_human,UNIPROT |