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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 FANCB |
 Gene summary |
| Gene information | Gene symbol | FANCB | Gene ID | 2187 |
| Gene name | FA complementation group B | |
| Synonyms | FA2|FAAP90|FAAP95|FAB|FACB | |
| Cytomap | Xp22.2 | |
| Type of gene | protein-coding | |
| Description | Fanconi anemia group B proteinFanconi anemia complementation group BFanconi anemia-associated polypeptide of 95 kDa | |
| 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 FANCB |
| 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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ENSG00000181544
| 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 |
| PG | UP | ENST00000324138.7 | FANCB-201:protein_coding:FANCB | 8.061309e+01 | 9.412744e-01 | 1.390211e-06 | 1.133382e-04 |
| CB | UP | ENST00000324138.7 | FANCB-201:protein_coding:FANCB | 9.358020e+00 | 1.799699e+00 | 8.204039e-04 | 4.371360e-03 |
| CB | DOWN | ENST00000646255.1 | FANCB-206:nonsense_mediated_decay:FANCB | 8.917990e-01 | -2.458660e+00 | 6.720769e-03 | 2.508741e-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 FANCB |
| 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_136901 | chrX | 14853039:14853167:14857862:14857954:14859182:14859247 | 14857862:14857954 |
| exon_skip_172022 | chrX | 14865343:14865580:14868923:14869043:14872986:14873052 | 14868923:14869043 |
| exon_skip_17551 | chrX | 14844503:14844740:14844856:14845286:14850505:14850671 | 14844856:14845286 |
| exon_skip_19075 | chrX | 14844503:14844740:14844856:14845286:14850505:14850674 | 14844856:14845286 |
| exon_skip_197767 | chrX | 14859182:14859334:14862252:14862332:14864560:14864703 | 14862252:14862332 |
| exon_skip_285010 | chrX | 14864560:14865580:14868923:14869043:14872986:14873069 | 14868923:14869043 |
| exon_skip_296601 | chrX | 14859182:14859334:14864560:14865580:14872986:14873052 | 14864560:14865580 |
| exon_skip_33151 | chrX | 14859182:14859334:14862252:14862332:14864560:14865580 | 14862252:14862332 |
| 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 FANCB |
| 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 |
| ENST00000398334 | 14868923 | 14869043 | 3UTR-3UTR |
| ENST00000324138 | 14844856 | 14845286 | Frame-shift |
| ENST00000398334 | 14844856 | 14845286 | 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 |
| ENST00000398334 | 14868923 | 14869043 | 3UTR-3UTR |
| ENST00000324138 | 14844856 | 14845286 | Frame-shift |
| ENST00000398334 | 14844856 | 14845286 | Frame-shift |
| ENST00000324138 | 14857862 | 14857954 | In-frame |
| ENST00000398334 | 14857862 | 14857954 | 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 |
| ENST00000324138 | 14864560 | 14865580 | 3UTR-3CDS |
| ENST00000398334 | 14868923 | 14869043 | 3UTR-3UTR |
| ENST00000324138 | 14844856 | 14845286 | Frame-shift |
| ENST00000398334 | 14844856 | 14845286 | Frame-shift |
| ENST00000324138 | 14857862 | 14857954 | In-frame |
| ENST00000398334 | 14857862 | 14857954 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FANCB |
p-ENSG00000181544_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 |
| ENST00000324138 | 2911 | 859 | 14857862 | 14857954 | 1259 | 1350 | 368 | 398 |
| ENST00000398334 | 3025 | 859 | 14857862 | 14857954 | 1373 | 1464 | 368 | 398 |
| 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 |
| ENST00000324138 | 2911 | 859 | 14857862 | 14857954 | 1259 | 1350 | 368 | 398 |
| ENST00000398334 | 3025 | 859 | 14857862 | 14857954 | 1373 | 1464 | 368 | 398 |
| 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 |
| Q8NB91 | 368 | 398 | 2 | 859 | Chain | ID=PRO_0000087181;Note=Fanconi anemia group B protein |
| Q8NB91 | 368 | 398 | 2 | 859 | Chain | ID=PRO_0000087181;Note=Fanconi anemia group B protein |
| 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 |
| Q8NB91 | 368 | 398 | 2 | 859 | Chain | ID=PRO_0000087181;Note=Fanconi anemia group B protein |
| Q8NB91 | 368 | 398 | 2 | 859 | Chain | ID=PRO_0000087181;Note=Fanconi anemia group B protein |
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3'-UTR located exon skipping events that lost miRNA binding sites in FANCB |
| 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 |
| Mayo | ENST00000398334 | 14868923 | 14869043 | hsa-miR-4433b-5p | chrX:14868955-14868962 | 8mer-1a | chrX:14868946-14868965 | 150.00 | -12.23 |
| Mayo | ENST00000398334 | 14868923 | 14869043 | hsa-miR-4652-3p | chrX:14868943-14868950 | 8mer-1a | chrX:14868930-14868956 | 149.00 | -20.99 |
| MSBB | ENST00000398334 | 14868923 | 14869043 | hsa-miR-4433b-5p | chrX:14868955-14868962 | 8mer-1a | chrX:14868946-14868965 | 150.00 | -12.23 |
| MSBB | ENST00000398334 | 14868923 | 14869043 | hsa-miR-4652-3p | chrX:14868943-14868950 | 8mer-1a | chrX:14868930-14868956 | 149.00 | -20.99 |
| ROSMAP | ENST00000398334 | 14868923 | 14869043 | hsa-miR-4433b-5p | chrX:14868955-14868962 | 8mer-1a | chrX:14868946-14868965 | 150.00 | -12.23 |
| ROSMAP | ENST00000398334 | 14868923 | 14869043 | hsa-miR-4652-3p | chrX:14868943-14868950 | 8mer-1a | chrX:14868930-14868956 | 149.00 | -20.99 |
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SNVs in the skipped exons for FANCB |
| - 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 FANCB |
| 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 FANCB |
| 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 FANCB |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FANCB |
| 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 FANCB |
| 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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