|
||||||
|
 | |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| 3'-UTR located exon skipping events lost miRNA binding sites |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| |
| |
|
Gene summary for NDUFAF6 |
 Gene summary |
| Gene information | Gene symbol | NDUFAF6 | Gene ID | 137682 |
| Gene name | NADH:ubiquinone oxidoreductase complex assembly factor 6 | |
| Synonyms | C8orf38|MC1DN17 | |
| Cytomap | 8q22.1 | |
| Type of gene | protein-coding | |
| Description | NADH dehydrogenase (ubiquinone) complex I, assembly factor 6UPF0551 protein C8orf38, mitochondrialputative phytoene synthase | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context | - 31473137(Genome-wide association analysis of dementia and its clinical endophenotypes reveal novel loci associated with Alzheimer's disease and three causality networks: The GR@ACE project) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
Top |
Gene structures and expression levels for NDUFAF6 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
 |
ENSG00000156170
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
 |
Top |
Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NDUFAF6 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
 |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_102110 | chr8 | 94958008:94958179:94980859:94980973:95031995:95032011 | 94980859:94980973 |
| exon_skip_105035 | chr8 | 95045545:95045647:95046994:95047127:95048457:95048558 | 95046994:95047127 |
| exon_skip_1052 | chr8 | 95035454:95035576:95036371:95036494:95041570:95041626 | 95036371:95036494 |
| exon_skip_111107 | chr8 | 95031995:95032098:95034008:95034122:95035454:95035576 | 95034008:95034122 |
| exon_skip_139 | chr8 | 95025068:95025205:95031995:95032098:95035454:95035576 | 95031995:95032098 |
| exon_skip_147775 | chr8 | 95035454:95035576:95036302:95036494:95041570:95041626 | 95036302:95036494 |
| exon_skip_15271 | chr8 | 95035454:95035576:95040706:95040927:95041570:95041626 | 95040706:95040927 |
| exon_skip_185861 | chr8 | 94895837:94895927:94945483:94945619:94957995:94958179 | 94945483:94945619 |
| exon_skip_191727 | chr8 | 95035454:95035576:95041570:95041626:95045545:95045647 | 95041570:95041626 |
| exon_skip_209521 | chr8 | 94958008:94958179:94980855:94980973:95031995:95032011 | 94980855:94980973 |
| exon_skip_214348 | chr8 | 94958008:94958179:94975318:94975415:94975817:94975979 | 94975318:94975415 |
| exon_skip_238585 | chr8 | 95025068:95025205:95031995:95032094:95035454:95035576 | 95031995:95032094 |
| exon_skip_245449 | chr8 | 94958008:94958179:94980855:94980973:95031995:95032094 | 94980855:94980973 |
| exon_skip_259011 | chr8 | 94980908:94980973:95023170:95023319:95031995:95032011 | 95023170:95023319 |
| exon_skip_280612 | chr8 | 94975318:94975415:94980855:94980973:94984035:94984184 | 94980855:94980973 |
| exon_skip_289947 | chr8 | 95075633:95075752:95101132:95101226:95102976:95103011 | 95101132:95101226 |
| exon_skip_291766 | chr8 | 94980908:94980973:95023170:95023319:95031995:95032094 | 95023170:95023319 |
| exon_skip_31193 | chr8 | 94958008:94958179:94980859:94980973:95031995:95032094 | 94980859:94980973 |
| exon_skip_48146 | chr8 | 94958008:94958179:94975318:94975415:94975817:94975983 | 94975318:94975415 |
| exon_skip_50020 | chr8 | 95041570:95041626:95044477:95044595:95045545:95045647 | 95044477:95044595 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
Top |
Open reading frame (ORF) annotation in the exon skipping event for NDUFAF6 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000396124 | 95031995 | 95032094 | Frame-shift |
| ENST00000396124 | 95046994 | 95047127 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000396124 | 95031995 | 95032094 | Frame-shift |
| ENST00000396124 | 95046994 | 95047127 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000396124 | 95031995 | 95032094 | Frame-shift |
| ENST00000396124 | 95046994 | 95047127 | Frame-shift |
| ENST00000396124 | 95041570 | 95041626 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for NDUFAF6 |
p-ENSG00000156170_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000396124 | 1815 | 333 | 95041570 | 95041626 | 445 | 500 | 140 | 159 |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q330K2 | 140 | 159 | 121 | 333 | Alternative sequence | ID=VSP_026232;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|Ref.1 |
| Q330K2 | 140 | 159 | 45 | 333 | Chain | ID=PRO_0000291772;Note=NADH dehydrogenase (ubiquinone) complex I%2C assembly factor 6 |
Top |
3'-UTR located exon skipping events that lost miRNA binding sites in NDUFAF6 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
Top |
SNVs in the skipped exons for NDUFAF6 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
Top |
AD stage-associated exon skippint events for NDUFAF6 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NDUFAF6 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| DLPFC | exon_skip_50020 | rs2678836 | chr8:95045990 | 2.022826e-05 | 2.088374e-03 |
Top |
Correlation with RNA binding proteins (RBPs) for NDUFAF6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| IFG | RBM3 | exon_skip_1052 | -4.005157e-01 | 4.260371e-02 |
| IFG | PCBP4 | exon_skip_50020 | -4.185959e-01 | 3.729149e-02 |
Top |
RelatedDrugs for NDUFAF6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for NDUFAF6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|