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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 FANCE |
 Gene summary |
| Gene information | Gene symbol | FANCE | Gene ID | 2178 |
| Gene name | FA complementation group E | |
| Synonyms | FACE|FAE | |
| Cytomap | 6p21.31 | |
| Type of gene | protein-coding | |
| Description | Fanconi anemia group E proteinFanconi anemia complementation group E | |
| Modification date | 20200313 | |
| UniProtAcc | A0A3B3ITU7, Q9HB96, | |
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
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Gene structures and expression levels for FANCE |
| 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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ENSG00000112039
| 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 FANCE |
| 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_23565 | chr6 | 35457556:35457600:35457916:35457984:35458297:35458440 | 35457916:35457984 |
| exon_skip_245139 | chr6 | 35460556:35460618:35462789:35462914:35466244:35466961 | 35462789:35462914 |
| exon_skip_250490 | chr6 | 35462789:35462914:35463848:35463980:35466244:35466961 | 35463848:35463980 |
| exon_skip_25776 | chr6 | 35455747:35456353:35457556:35457600:35457916:35457984 | 35457556:35457600 |
| exon_skip_77196 | chr6 | 35460552:35460618:35462789:35462914:35466244:35466961 | 35462789:35462914 |
| exon_skip_77821 | chr6 | 35459682:35459760:35460552:35460618:35462789:35462914 | 35460552:35460618 |
| 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 FANCE |
| 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 |
| ENST00000229769 | 35460552 | 35460618 | Frame-shift |
| ENST00000229769 | 35457916 | 35457984 | 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 |
| ENST00000229769 | 35457916 | 35457984 | In-frame |
| ENST00000229769 | 35462789 | 35462914 | 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 |
| ENST00000229769 | 35460552 | 35460618 | Frame-shift |
| ENST00000229769 | 35457556 | 35457600 | In-frame |
| ENST00000229769 | 35457916 | 35457984 | In-frame |
| ENST00000229769 | 35462789 | 35462914 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FANCE |
p-ENSG00000112039_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 |
| ENST00000229769 | 2571 | 536 | 35457916 | 35457984 | 1087 | 1154 | 300 | 323 |
| 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 |
| ENST00000229769 | 2571 | 536 | 35457916 | 35457984 | 1087 | 1154 | 300 | 323 |
| ENST00000229769 | 2571 | 536 | 35462789 | 35462914 | 1570 | 1694 | 461 | 503 |
| 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 |
| ENST00000229769 | 2571 | 536 | 35457556 | 35457600 | 1042 | 1085 | 285 | 300 |
| ENST00000229769 | 2571 | 536 | 35457916 | 35457984 | 1087 | 1154 | 300 | 323 |
| ENST00000229769 | 2571 | 536 | 35462789 | 35462914 | 1570 | 1694 | 461 | 503 |
| 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 |
| Q9HB96 | 300 | 323 | 1 | 536 | Chain | ID=PRO_0000087187;Note=Fanconi anemia group E protein |
| Q9HB96 | 300 | 323 | 311 | 314 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 300 | 323 | 315 | 318 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 300 | 323 | 321 | 331 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 300 | 323 | 150 | 371 | Region | Note=Interaction with FANCC;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12649160;Dbxref=PMID:12649160 |
| 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 |
| Q9HB96 | 300 | 323 | 1 | 536 | Chain | ID=PRO_0000087187;Note=Fanconi anemia group E protein |
| Q9HB96 | 300 | 323 | 311 | 314 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 300 | 323 | 315 | 318 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 300 | 323 | 321 | 331 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 300 | 323 | 150 | 371 | Region | Note=Interaction with FANCC;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12649160;Dbxref=PMID:12649160 |
| Q9HB96 | 461 | 503 | 1 | 536 | Chain | ID=PRO_0000087187;Note=Fanconi anemia group E protein |
| Q9HB96 | 461 | 503 | 466 | 477 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 461 | 503 | 487 | 499 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 461 | 503 | 501 | 503 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 461 | 503 | 502 | 502 | Natural variant | ID=VAR_023376;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.2;Dbxref=dbSNP:rs9462088 |
| 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 |
| Q9HB96 | 285 | 300 | 1 | 536 | Chain | ID=PRO_0000087187;Note=Fanconi anemia group E protein |
| Q9HB96 | 285 | 300 | 282 | 299 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 285 | 300 | 150 | 371 | Region | Note=Interaction with FANCC;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12649160;Dbxref=PMID:12649160 |
| Q9HB96 | 300 | 323 | 1 | 536 | Chain | ID=PRO_0000087187;Note=Fanconi anemia group E protein |
| Q9HB96 | 300 | 323 | 311 | 314 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 300 | 323 | 315 | 318 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 300 | 323 | 321 | 331 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 300 | 323 | 150 | 371 | Region | Note=Interaction with FANCC;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12649160;Dbxref=PMID:12649160 |
| Q9HB96 | 461 | 503 | 1 | 536 | Chain | ID=PRO_0000087187;Note=Fanconi anemia group E protein |
| Q9HB96 | 461 | 503 | 466 | 477 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 461 | 503 | 487 | 499 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 461 | 503 | 501 | 503 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2ILR |
| Q9HB96 | 461 | 503 | 502 | 502 | Natural variant | ID=VAR_023376;Note=A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.2;Dbxref=dbSNP:rs9462088 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FANCE |
| 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 FANCE |
| - 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 FANCE |
| 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 FANCE |
| 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 FANCE |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FANCE |
| 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 FANCE |
| 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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