TissGeneSummary for DNAAF3 |
Gene summary |
Basic gene information | Gene symbol | DNAAF3 |
Gene name | dynein, axonemal, assembly factor 3 | |
Synonyms | C19orf51|CILD2|DAB1|PCD|PF22 | |
Cytomap | UCSC genome browser: 19q13.4 | |
Type of gene | protein-coding | |
RefGenes | NM_001256714.1, NM_001256715.1,NM_001256716.1,NM_178837.4,NM_001031802.1, | |
Description | UPF0470 protein C19orf51dynein assembly factor 3, axonemal | |
Modification date | 20141219 | |
dbXrefs | MIM : 614566 | |
HGNC : HGNC | ||
Ensembl : ENSG00000167646 | ||
HPRD : 14185 | ||
Vega : OTTHUMG00000128547 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_DNAAF3 | |
BioGPS: 352909 | ||
Pathway | NCI Pathway Interaction Database: DNAAF3 | |
KEGG: DNAAF3 | ||
REACTOME: DNAAF3 | ||
Pathway Commons: DNAAF3 | ||
Context | iHOP: DNAAF3 | |
ligand binding site mutation search in PubMed: DNAAF3 | ||
UCL Cancer Institute: DNAAF3 | ||
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 DNAAF3 | ||
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 DNAAF3 |
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 DNAAF3 |
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 DNAAF3 |
TissGeneSNV for DNAAF3 |
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.G245S | KIRP | 3 |
p.P98H | PAAD | 1 |
p.G567R | SKCM | 1 |
p.S585L | HNSC | 1 |
p.A479V | SKCM | 1 |
p.P51T | HNSC | 1 |
p.F424L | LUSC | 1 |
p.Y316H | COAD | 1 |
p.R321W | COAD | 1 |
p.G399R | SKCM | 1 |
p.T108K | LUAD | 1 |
p.A469E | CHOL | 1 |
p.G245S | THCA | 1 |
p.G245S | LGG | 1 |
p.H294Y | CHOL | 1 |
p.G400R | LUAD | 1 |
p.R299Q | BLCA | 1 |
p.E114K | BLCA | 1 |
p.D359N | READ | 1 |
p.R446Q | COAD | 1 |
p.E558A | STAD | 1 |
p.E551G | STAD | 1 |
p.A535V | LUSC | 1 |
p.R36L | PRAD | 1 |
p.P169L | LIHC | 1 |
p.V485M | THYM | 1 |
p.V306I | PAAD | 1 |
p.E360G | PCPG | 1 |
p.A315D | SKCM | 1 |
p.S29R | THYM | 1 |
p.Y451H | LUAD | 1 |
p.M159R | SKCM | 1 |
p.V336A | SARC | 1 |
p.Q406X | COAD | 1 |
p.G55R | UCEC | 1 |
p.T425A | LUSC | 1 |
p.R76K | SKCM | 1 |
p.E488V | LUSC | 1 |
p.I18V | THCA | 1 |
p.A251V | BLCA | 1 |
p.E516* | BLCA | 1 |
p.E360G | COAD | 1 |
p.A492V | UCEC | 1 |
p.E360G | PRAD | 1 |
p.A547S | LUAD | 1 |
p.D312N | LUAD | 1 |
p.G559C | LUSC | 1 |
p.S104F | CESC | 1 |
p.G445C | LUAD | 1 |
p.P8L | SKCM | 1 |
p.E586D | LIHC | 1 |
p.V533I | COAD | 1 |
p.A466T | LUAD | 1 |
p.R299L | BLCA | 1 |
p.Q379E | HNSC | 1 |
p.A307V | SKCM | 1 |
p.S54C | CESC | 1 |
p.A512S | LUAD | 1 |
p.S527X | SKCM | 1 |
p.E586G | LIHC | 1 |
p.P597S | BLCA | 1 |
p.S527* | SKCM | 1 |
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TissGeneCNV for DNAAF3 |
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 DNAAF3 |
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 DNAAF3 |
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 DNAAF3 |
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 DNAAF3 |
TissGeneDrug for DNAAF3 |
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 DNAAF3 |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0022521 | Kartagener Syndrome | 4 | BeFree,CLINVAR,CTD_human |
umls:C0008780 | Ciliary Motility Disorders | 3 | BeFree |
umls:C0002395 | Alzheimer's Disease | 2 | BeFree |
umls:C0004352 | Autistic Disorder | 2 | BeFree |
umls:C0027819 | Neuroblastoma | 2 | BeFree |
umls:C0700095 | Central neuroblastoma | 2 | BeFree |
umls:C0000768 | Congenital Abnormality | 1 | BeFree |
umls:C0007103 | Malignant neoplasm of endometrium | 1 | BeFree |
umls:C0009402 | Colorectal Carcinoma | 1 | BeFree |
umls:C0020255 | Hydrocephalus | 1 | BeFree |
umls:C0026764 | Multiple Myeloma | 1 | BeFree |
umls:C0027627 | Neoplasm Metastasis | 1 | BeFree |
umls:C0036341 | Schizophrenia | 1 | BeFree |
umls:C0037221 | Situs Inversus | 1 | BeFree |
umls:C0040038 | Thromboembolism | 1 | BeFree |
umls:C0162534 | Prion Diseases | 1 | BeFree |
umls:C0235974 | Pancreatic carcinoma | 1 | BeFree |
umls:C0278619 | Extramedullary Plasmacytoma | 1 | BeFree |
umls:C0346647 | Malignant neoplasm of pancreas | 1 | BeFree |
umls:C0398625 | Protein C Deficiency | 1 | BeFree |
umls:C0476089 | Endometrial Carcinoma | 1 | BeFree |
umls:C0596263 | Carcinogenesis | 1 | BeFree |
umls:C0699949 | airway disease | 1 | BeFree |
umls:C1274290 | Neonatal purpura fulminans (homozygous protein C deficiency) | 1 | BeFree |
umls:C1328504 | Hormone refractory prostate cancer | 1 | BeFree |
umls:C1527249 | Colorectal Cancer | 1 | BeFree |
umls:C1847554 | CILIARY DYSKINESIA, PRIMARY, 2 (disorder) | 1 | CLINVAR,MGD,UNIPROT |
umls:C1883486 | Uterine Corpus Cancer | 1 | BeFree |
umls:C2931859 | Acquired CJD | 1 | BeFree |