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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for NFS1 |
 Gene summary |
| Gene information | Gene symbol | NFS1 | Gene ID | 9054 |
| Gene name | NFS1 cysteine desulfurase | |
| Synonyms | HUSSY-08|IscS|NIFS | |
| Cytomap | 20q11.22 | |
| Type of gene | protein-coding | |
| Description | cysteine desulfurase, mitochondrialNFS1 nitrogen fixation 1 homolognitrogen fixation 1 (S. cerevisiae, homolog)nitrogen-fixing bacteria S-like protein | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| NFS1 | GO:0018283 | iron incorporation into metallo-sulfur cluster | 16847322 |
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Gene structures and expression levels for NFS1 |
| 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. |
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ENSG00000244005
| 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. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for NFS1 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_127290 | chr20 | 35674512:35674617:35675045:35675202:35680737:35680871 | 35675045:35675202 |
| exon_skip_128161 | chr20 | 35690526:35690565:35692249:35692296:35696377:35696460 | 35692249:35692296 |
| exon_skip_190243 | chr20 | 35681965:35681981:35690413:35690565:35696377:35696460 | 35690413:35690565 |
| exon_skip_214458 | chr20 | 35675045:35675202:35680737:35680871:35681888:35681981 | 35680737:35680871 |
| exon_skip_34144 | chr20 | 35690526:35690565:35692249:35692370:35696377:35696460 | 35692249:35692370 |
| 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 |
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Open reading frame (ORF) annotation in the exon skipping event for NFS1 |
| 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 |
| ENST00000374092 | 35675045 | 35675202 | Frame-shift |
| ENST00000374092 | 35680737 | 35680871 | In-frame |
| ENST00000374092 | 35690413 | 35690565 | In-frame |
| 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 |
| ENST00000374092 | 35675045 | 35675202 | Frame-shift |
| ENST00000374092 | 35690413 | 35690565 | In-frame |
| 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 |
| ENST00000374092 | 35675045 | 35675202 | Frame-shift |
| ENST00000374092 | 35680737 | 35680871 | In-frame |
| ENST00000374092 | 35690413 | 35690565 | In-frame |
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Infer the effects of exon skipping event on protein functional features for NFS1 |
p-ENSG00000244005_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 |
| ENST00000374092 | 3029 | 457 | 35690413 | 35690565 | 480 | 631 | 136 | 186 |
| ENST00000374092 | 3029 | 457 | 35680737 | 35680871 | 727 | 860 | 218 | 263 |
| 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 |
| ENST00000374092 | 3029 | 457 | 35690413 | 35690565 | 480 | 631 | 136 | 186 |
| 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 |
| ENST00000374092 | 3029 | 457 | 35690413 | 35690565 | 480 | 631 | 136 | 186 |
| ENST00000374092 | 3029 | 457 | 35680737 | 35680871 | 727 | 860 | 218 | 263 |
| 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 |
| Q9Y697 | 136 | 186 | 136 | 186 | Alternative sequence | ID=VSP_045860;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y697 | 136 | 186 | 148 | 152 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 172 | 176 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 127 | 141 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 157 | 168 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 186 | 192 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 142 | 145 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 218 | 263 | 228 | 232 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 218 | 263 | 250 | 256 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 218 | 263 | 235 | 235 | Binding site | Note=Pyridoxal phosphate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P0A6B9 |
| Q9Y697 | 218 | 263 | 215 | 225 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 218 | 263 | 258 | 258 | Modified residue | Note=N6-(pyridoxal phosphate)lysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P0A6B9 |
| Q9Y697 | 218 | 263 | 255 | 257 | Region | Note=Pyridoxal phosphate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P0A6B9 |
| Q9Y697 | 218 | 263 | 234 | 239 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 218 | 263 | 244 | 248 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 218 | 263 | 257 | 260 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| 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 |
| Q9Y697 | 136 | 186 | 136 | 186 | Alternative sequence | ID=VSP_045860;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y697 | 136 | 186 | 148 | 152 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 172 | 176 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 127 | 141 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 157 | 168 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 186 | 192 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 142 | 145 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| 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 |
| Q9Y697 | 136 | 186 | 136 | 186 | Alternative sequence | ID=VSP_045860;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9Y697 | 136 | 186 | 148 | 152 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 172 | 176 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 127 | 141 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 157 | 168 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 186 | 192 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 136 | 186 | 142 | 145 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 218 | 263 | 228 | 232 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 218 | 263 | 250 | 256 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 218 | 263 | 235 | 235 | Binding site | Note=Pyridoxal phosphate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P0A6B9 |
| Q9Y697 | 218 | 263 | 215 | 225 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 218 | 263 | 258 | 258 | Modified residue | Note=N6-(pyridoxal phosphate)lysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P0A6B9 |
| Q9Y697 | 218 | 263 | 255 | 257 | Region | Note=Pyridoxal phosphate binding;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P0A6B9 |
| Q9Y697 | 218 | 263 | 234 | 239 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 218 | 263 | 244 | 248 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
| Q9Y697 | 218 | 263 | 257 | 260 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WGB |
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3'-UTR located exon skipping events that lost miRNA binding sites in NFS1 |
| 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 |
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SNVs in the skipped exons for NFS1 |
| - 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 |
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AD stage-associated exon skippint events for NFS1 |
| 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NFS1 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for NFS1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for NFS1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Q9Y697 | approved|investigational|nutraceutical | DB00114 | Pyridoxal phosphate | small molecule | Q9Y697 |
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RelatedDiseases for NFS1 |
| 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)
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