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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 FAN1 |
 Gene summary |
| Gene information | Gene symbol | FAN1 | Gene ID | 22909 |
| Gene name | FANCD2 and FANCI associated nuclease 1 | |
| Synonyms | KIAA1018|KMIN|MTMR15|hFAN1 | |
| Cytomap | 15q13.3 | |
| Type of gene | protein-coding | |
| Description | fanconi-associated nuclease 1FANCD2/FANCI-associated nuclease 1coiled-coil domain-containing protein MTMR15fanconi anemia associated nuclease 1myotubularin-related protein 15 | |
| Modification date | 20200320 | |
| 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 |
| FAN1 | GO:0033683 | nucleotide-excision repair, DNA incision | 20603015|25430771 |
| FAN1 | GO:0036297 | interstrand cross-link repair | 25430771 |
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Gene structures and expression levels for FAN1 |
| 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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ENSG00000198690
| 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. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000655421.1 | FAN1-212:retained_intron:FAN1 | 2.108734e+02 | 1.460306e+00 | 1.592925e-07 | 3.145668e-06 |
| CB | DOWN | ENST00000664837.1 | FAN1-221:protein_coding:FAN1 | 1.095157e+02 | -1.300547e+00 | 1.786172e-05 | 1.722645e-04 |
| CB | UP | ENST00000667837.1 | FAN1-226:lncRNA:FAN1 | 4.518361e+01 | 8.778972e-01 | 6.307744e-04 | 3.509333e-03 |
| CB | UP | ENST00000666852.1 | FAN1-225:retained_intron:FAN1 | 1.560098e+02 | 9.244097e-01 | 4.489223e-03 | 1.801085e-02 |
| 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 FAN1 |
| 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_106658 | chr15 | 30918164:30918295:30920545:30920653:30922235:30922354 | 30920545:30920653 |
| exon_skip_109008 | chr15 | 30908118:30908258:30910614:30910815:30913858:30914091 | 30910614:30910815 |
| exon_skip_129031 | chr15 | 30922235:30922354:30925096:30925291:30925789:30925939 | 30925096:30925291 |
| exon_skip_131327 | chr15 | 30908118:30908258:30909523:30909765:30910614:30910796 | 30909523:30909765 |
| exon_skip_155868 | chr15 | 30922235:30922354:30925127:30925291:30925789:30925939 | 30925127:30925291 |
| exon_skip_205353 | chr15 | 30905879:30905897:30906371:30906504:30908118:30908258 | 30906371:30906504 |
| exon_skip_225284 | chr15 | 30904512:30905897:30906371:30906504:30908118:30908258 | 30906371:30906504 |
| exon_skip_234178 | chr15 | 30908118:30908258:30909523:30909765:30910614:30910815 | 30909523:30909765 |
| exon_skip_253847 | chr15 | 30904512:30904590:30905725:30905897:30908118:30908258 | 30905725:30905897 |
| exon_skip_257139 | chr15 | 30905725:30905897:30906371:30906504:30908118:30908258 | 30906371:30906504 |
| exon_skip_3354 | chr15 | 30913858:30914091:30918164:30918295:30920545:30920653 | 30918164:30918295 |
| exon_skip_580 | chr15 | 30913858:30914091:30918083:30918295:30920545:30920653 | 30918083:30918295 |
| 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 FAN1 |
| 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 |
| ENST00000362065 | 30910614 | 30910815 | Frame-shift |
| ENST00000362065 | 30920545 | 30920653 | Frame-shift |
| ENST00000362065 | 30918164 | 30918295 | In-frame |
| ENST00000362065 | 30925127 | 30925291 | 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 |
| ENST00000362065 | 30910614 | 30910815 | 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 |
| ENST00000362065 | 30910614 | 30910815 | Frame-shift |
| ENST00000362065 | 30920545 | 30920653 | Frame-shift |
| ENST00000362065 | 30918164 | 30918295 | In-frame |
| ENST00000362065 | 30925127 | 30925291 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FAN1 |
p-ENSG00000198690_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 |
| ENST00000362065 | 4908 | 1017 | 30918164 | 30918295 | 2104 | 2234 | 604 | 647 |
| ENST00000362065 | 4908 | 1017 | 30925127 | 30925291 | 2465 | 2628 | 724 | 779 |
| 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 |
| ENST00000362065 | 4908 | 1017 | 30918164 | 30918295 | 2104 | 2234 | 604 | 647 |
| ENST00000362065 | 4908 | 1017 | 30925127 | 30925291 | 2465 | 2628 | 724 | 779 |
| 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 |
| Q9Y2M0 | 604 | 647 | 534 | 1017 | Alternative sequence | ID=VSP_029430;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9Y2M0 | 604 | 647 | 1 | 1017 | Chain | ID=PRO_0000311224;Note=Fanconi-associated nuclease 1 |
| Q9Y2M0 | 604 | 647 | 599 | 620 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 604 | 647 | 624 | 639 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 604 | 647 | 645 | 651 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 604 | 647 | 640 | 643 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 724 | 779 | 534 | 1017 | Alternative sequence | ID=VSP_029430;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9Y2M0 | 724 | 779 | 778 | 783 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 724 | 779 | 1 | 1017 | Chain | ID=PRO_0000311224;Note=Fanconi-associated nuclease 1 |
| Q9Y2M0 | 724 | 779 | 722 | 734 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 724 | 779 | 740 | 754 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 724 | 779 | 757 | 759 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 724 | 779 | 761 | 765 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| 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 |
| Q9Y2M0 | 604 | 647 | 534 | 1017 | Alternative sequence | ID=VSP_029430;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9Y2M0 | 604 | 647 | 1 | 1017 | Chain | ID=PRO_0000311224;Note=Fanconi-associated nuclease 1 |
| Q9Y2M0 | 604 | 647 | 599 | 620 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 604 | 647 | 624 | 639 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 604 | 647 | 645 | 651 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 604 | 647 | 640 | 643 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 724 | 779 | 534 | 1017 | Alternative sequence | ID=VSP_029430;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334;Dbxref=PMID:14702039,PMID:15489334 |
| Q9Y2M0 | 724 | 779 | 778 | 783 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 724 | 779 | 1 | 1017 | Chain | ID=PRO_0000311224;Note=Fanconi-associated nuclease 1 |
| Q9Y2M0 | 724 | 779 | 722 | 734 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 724 | 779 | 740 | 754 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 724 | 779 | 757 | 759 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
| Q9Y2M0 | 724 | 779 | 761 | 765 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4REC |
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3'-UTR located exon skipping events that lost miRNA binding sites in FAN1 |
| 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 FAN1 |
| - 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 FAN1 |
| 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 FAN1 |
| 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 FAN1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_109008 | 4.763873e-01 | 6.295557e-10 |
| IFG | ENOX1 | exon_skip_109008 | 4.728341e-01 | 1.105337e-02 |
| IFG | PTBP3 | exon_skip_109008 | 4.407364e-01 | 1.890277e-02 |
| IFG | PABPC4 | exon_skip_109008 | 4.496133e-01 | 1.637567e-02 |
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RelatedDrugs for FAN1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FAN1 |
| 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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