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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 FAM13B |
 Gene summary |
| Gene information | Gene symbol | FAM13B | Gene ID | 51306 |
| Gene name | family with sequence similarity 13 member B | |
| Synonyms | ARHGAP49|C5orf5|FAM13B1|KHCHP|N61 | |
| Cytomap | 5q31.2 | |
| Type of gene | protein-coding | |
| Description | protein FAM13BGAP-like protein N61family with sequence similarity 13, member B1 | |
| 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 FAM13B |
| 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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ENSG00000031003
| 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 |
| DLPFC | UP | ENST00000514310.5 | FAM13B-211:protein_coding:FAM13B | 1.737038e+00 | 1.050660e+00 | 6.536047e-04 | 2.539759e-02 |
| PG | UP | ENST00000514310.5 | FAM13B-211:protein_coding:FAM13B | 7.813746e+00 | 1.261108e+00 | 1.195328e-04 | 3.132758e-03 |
| CB | UP | ENST00000425075.6 | FAM13B-203:protein_coding:FAM13B | 2.021377e+02 | 1.181566e+00 | 1.466424e-11 | 1.328593e-09 |
| CB | UP | ENST00000508403.5 | FAM13B-207:protein_coding:FAM13B | 1.465004e+00 | 1.138975e+00 | 5.960680e-05 | 4.777639e-04 |
| CB | UP | ENST00000420893.6 | FAM13B-202:protein_coding:FAM13B | 3.820943e+01 | 2.929824e+00 | 7.733177e-05 | 5.965571e-04 |
| TC | UP | ENST00000514310.5 | FAM13B-211:protein_coding:FAM13B | 4.184921e+00 | 8.944227e-01 | 1.108107e-03 | 1.070789e-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 FAM13B |
| 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_105589 | chr5 | 137945902:137945997:137946228:137946311:137948955:137949094 | 137946228:137946311 |
| exon_skip_117200 | chr5 | 137943195:137943216:137945902:137945997:137948955:137949184 | 137945902:137945997 |
| exon_skip_119814 | chr5 | 138018955:138019146:138019881:138019977:138021031:138021197 | 138019881:138019977 |
| exon_skip_127574 | chr5 | 138019001:138019146:138019881:138019977:138021031:138021197 | 138019881:138019977 |
| exon_skip_128839 | chr5 | 137954166:137954376:137956477:137956542:137959616:137959755 | 137956477:137956542 |
| exon_skip_151050 | chr5 | 137954213:137954376:137956477:137956542:137959616:137959763 | 137956477:137956542 |
| exon_skip_165234 | chr5 | 138018955:138019146:138019881:138019977:138021031:138021136 | 138019881:138019977 |
| exon_skip_219277 | chr5 | 138011008:138011149:138011768:138011945:138018302:138018514 | 138011768:138011945 |
| exon_skip_241802 | chr5 | 137954166:137954376:137959616:137959763:137960166:137960214 | 137959616:137959763 |
| exon_skip_248110 | chr5 | 137943195:137943216:137945902:137945997:137948955:137949094 | 137945902:137945997 |
| exon_skip_28156 | chr5 | 138006990:138007147:138011008:138011149:138011768:138011945 | 138011008:138011149 |
| exon_skip_65270 | chr5 | 137945902:137945997:137946228:137946311:137948955:137949184 | 137946228:137946311 |
| exon_skip_69122 | chr5 | 138011890:138011945:138018302:138018514:138021031:138021197 | 138018302:138018514 |
| exon_skip_84062 | chr5 | 138018479:138018514:138018955:138019146:138021031:138021197 | 138018955:138019146 |
| exon_skip_86876 | chr5 | 137954166:137954376:137956477:137956542:137959616:137959763 | 137956477:137956542 |
| exon_skip_9051 | chr5 | 138018479:138018514:138018955:138019146:138021031:138021136 | 138018955:138019146 |
| exon_skip_92286 | chr5 | 137985257:137985389:137987461:137987616:137988274:137988315 | 137987461:137987616 |
| exon_skip_95303 | chr5 | 138011890:138011945:138018302:138018514:138021031:138021136 | 138018302:138018514 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
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| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| exon_skip_65270 | ROSMAP_PCC | 7.733884e-01 | 8.738272e-01 | -1.004387e-01 | 5.330182e-04 |
| exon_skip_105589 | Mayo_CB | 4.323171e-01 | 6.311429e-01 | -1.988258e-01 | 3.353677e-07 |
| exon_skip_105589 | Mayo_TC | 6.703659e-01 | 7.717568e-01 | -1.013909e-01 | 8.325270e-05 |
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Open reading frame (ORF) annotation in the exon skipping event for FAM13B |
| 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 |
| ENST00000033079 | 138018955 | 138019146 | 3UTR-3CDS |
| ENST00000033079 | 138011008 | 138011149 | Frame-shift |
| ENST00000033079 | 138011768 | 138011945 | Frame-shift |
| ENST00000033079 | 137946228 | 137946311 | In-frame |
| ENST00000033079 | 137987461 | 137987616 | 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 |
| ENST00000033079 | 138018955 | 138019146 | 3UTR-3CDS |
| ENST00000033079 | 138011008 | 138011149 | Frame-shift |
| ENST00000033079 | 138011768 | 138011945 | Frame-shift |
| ENST00000033079 | 137946228 | 137946311 | In-frame |
| ENST00000033079 | 137987461 | 137987616 | 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 |
| ENST00000033079 | 138018955 | 138019146 | 3UTR-3CDS |
| ENST00000033079 | 137959616 | 137959763 | Frame-shift |
| ENST00000033079 | 138011008 | 138011149 | Frame-shift |
| ENST00000033079 | 138011768 | 138011945 | Frame-shift |
| ENST00000033079 | 137946228 | 137946311 | In-frame |
| ENST00000033079 | 137987461 | 137987616 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FAM13B |
p-ENSG00000031003_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 |
| ENST00000033079 | 5482 | 915 | 137987461 | 137987616 | 1343 | 1497 | 297 | 348 |
| ENST00000033079 | 5482 | 915 | 137946228 | 137946311 | 2547 | 2629 | 698 | 725 |
| 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 |
| ENST00000033079 | 5482 | 915 | 137987461 | 137987616 | 1343 | 1497 | 297 | 348 |
| ENST00000033079 | 5482 | 915 | 137946228 | 137946311 | 2547 | 2629 | 698 | 725 |
| 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 |
| ENST00000033079 | 5482 | 915 | 137987461 | 137987616 | 1343 | 1497 | 297 | 348 |
| ENST00000033079 | 5482 | 915 | 137946228 | 137946311 | 2547 | 2629 | 698 | 725 |
| 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 |
| Q9NYF5 | 297 | 348 | 1 | 915 | Chain | ID=PRO_0000058924;Note=Protein FAM13B |
| Q9NYF5 | 698 | 725 | 699 | 726 | Alternative sequence | ID=VSP_042048;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYF5 | 698 | 725 | 1 | 915 | Chain | ID=PRO_0000058924;Note=Protein FAM13B |
| 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 |
| Q9NYF5 | 297 | 348 | 1 | 915 | Chain | ID=PRO_0000058924;Note=Protein FAM13B |
| Q9NYF5 | 698 | 725 | 699 | 726 | Alternative sequence | ID=VSP_042048;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYF5 | 698 | 725 | 1 | 915 | Chain | ID=PRO_0000058924;Note=Protein FAM13B |
| 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 |
| Q9NYF5 | 297 | 348 | 1 | 915 | Chain | ID=PRO_0000058924;Note=Protein FAM13B |
| Q9NYF5 | 698 | 725 | 699 | 726 | Alternative sequence | ID=VSP_042048;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NYF5 | 698 | 725 | 1 | 915 | Chain | ID=PRO_0000058924;Note=Protein FAM13B |
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3'-UTR located exon skipping events that lost miRNA binding sites in FAM13B |
| 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 FAM13B |
| - 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 FAM13B |
| 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 |
| CDR | MSBB | IFG | exon_skip_171053 | 4.198705e-01 | 2.612178e-02 | chr5 | - | 137988274 | 137988315 | 137992832 | 137992879 | 138006990 | 138007147 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FAM13B |
| 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 FAM13B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | TRA2A | exon_skip_105589 | -6.219355e-01 | 1.216101e-17 |
| CB | RBM3 | exon_skip_84062 | -4.096121e-01 | 3.432625e-07 |
| HCC | MSI1 | exon_skip_105589 | -4.468096e-01 | 1.178813e-14 |
| HCC | RBM6 | exon_skip_86876 | 4.842909e-01 | 5.460456e-17 |
| HCC | PTBP1 | exon_skip_86876 | 5.254929e-01 | 3.244451e-20 |
| HCC | HNRNPF | exon_skip_86876 | 4.573152e-01 | 4.223228e-15 |
| HCC | RBM3 | exon_skip_84062 | -5.114396e-01 | 1.150427e-18 |
| IFG | IGF2BP2 | exon_skip_86876 | 5.112540e-01 | 5.427763e-03 |
| IFG | SRSF2 | exon_skip_84062 | -5.248314e-01 | 4.138466e-03 |
| IFG | RBM3 | exon_skip_84062 | -4.692675e-01 | 1.176139e-02 |
| IFG | HNRNPH2 | exon_skip_84062 | -4.458867e-01 | 1.740028e-02 |
| IFG | ESRP1 | exon_skip_84062 | -4.660509e-01 | 1.243199e-02 |
| PCC | RALYL | exon_skip_86876 | -4.156957e-01 | 9.283916e-10 |
| PCC | RBM3 | exon_skip_84062 | -4.887596e-01 | 6.363363e-13 |
| STG | RALYL | exon_skip_128839 | -4.285461e-01 | 9.065104e-05 |
| TC | PUF60 | exon_skip_105589 | 4.020380e-01 | 1.968631e-07 |
| TC | RALYL | exon_skip_105589 | 4.902584e-01 | 8.236668e-11 |
| TC | NOVA1 | exon_skip_105589 | 5.534232e-01 | 6.755251e-14 |
| TC | RALYL | exon_skip_128839 | -5.667013e-01 | 2.735201e-14 |
| TC | HNRNPH2 | exon_skip_128839 | -4.582696e-01 | 2.907142e-09 |
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RelatedDrugs for FAM13B |
| 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 FAM13B |
| 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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