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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 FANCG |
 Gene summary |
| Gene information | Gene symbol | FANCG | Gene ID | 2189 |
| Gene name | FA complementation group G | |
| Synonyms | FAG|XRCC9 | |
| Cytomap | 9p13.3 | |
| Type of gene | protein-coding | |
| Description | Fanconi anemia group G proteinDNA repair protein XRCC9Fanconi anemia complementation group GX-ray repair complementing defective repair in Chinese hamster cells 9X-ray repair, complementing defective, in Chinese hamster, 9truncated Fanconi anemia gro | |
| 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 |
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Gene structures and expression levels for FANCG |
| 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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ENSG00000221829
| 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 | DOWN | ENST00000476212.1 | FANCG-207:lncRNA:FANCG | 8.849097e+01 | -1.224277e+00 | 3.508589e-13 | 6.215747e-11 |
| 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 FANCG |
| 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_19258 | chr9 | 35073839:35074216:35074371:35074494:35074927:35075082 | 35074371:35074494 |
| exon_skip_223445 | chr9 | 35077265:35077399:35078141:35078343:35078605:35078646 | 35078141:35078343 |
| exon_skip_267490 | chr9 | 35075465:35075754:35075962:35076028:35076432:35076583 | 35075962:35076028 |
| exon_skip_276670 | chr9 | 35073839:35074216:35074371:35074494:35074927:35075076 | 35074371:35074494 |
| exon_skip_3344 | chr9 | 35074371:35074494:35074927:35075082:35075279:35075325 | 35074927:35075082 |
| exon_skip_41526 | chr9 | 35073839:35074216:35074371:35074494:35074927:35075059 | 35074371:35074494 |
| exon_skip_68457 | chr9 | 35077264:35077399:35078141:35078343:35078605:35078736 | 35078141:35078343 |
| 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 FANCG |
| 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 |
| ENST00000378643 | 35074371 | 35074494 | Frame-shift |
| ENST00000378643 | 35075962 | 35076028 | Frame-shift |
| ENST00000378643 | 35078141 | 35078343 | Frame-shift |
| ENST00000378643 | 35074927 | 35075082 | 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 |
| ENST00000378643 | 35078141 | 35078343 | 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 |
| ENST00000378643 | 35074371 | 35074494 | Frame-shift |
| ENST00000378643 | 35075962 | 35076028 | Frame-shift |
| ENST00000378643 | 35078141 | 35078343 | Frame-shift |
| ENST00000378643 | 35074927 | 35075082 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FANCG |
p-ENSG00000221829_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 |
| ENST00000378643 | 2648 | 622 | 35074927 | 35075082 | 1973 | 2127 | 493 | 545 |
| 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 |
| ENST00000378643 | 2648 | 622 | 35074927 | 35075082 | 1973 | 2127 | 493 | 545 |
| 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 |
| O15287 | 493 | 545 | 1 | 622 | Chain | ID=PRO_0000106292;Note=Fanconi anemia group G protein |
| O15287 | 493 | 545 | 513 | 513 | Natural variant | ID=VAR_021107;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs17885240 |
| O15287 | 493 | 545 | 514 | 547 | Repeat | Note=TPR 4 |
| 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 |
| O15287 | 493 | 545 | 1 | 622 | Chain | ID=PRO_0000106292;Note=Fanconi anemia group G protein |
| O15287 | 493 | 545 | 513 | 513 | Natural variant | ID=VAR_021107;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.3;Dbxref=dbSNP:rs17885240 |
| O15287 | 493 | 545 | 514 | 547 | Repeat | Note=TPR 4 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FANCG |
| 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 FANCG |
| - 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 FANCG |
| 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 FANCG |
| 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 FANCG |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FANCG |
| 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 FANCG |
| 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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