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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 FAM193B |
 Gene summary |
| Gene information | Gene symbol | FAM193B | Gene ID | 54540 |
| Gene name | family with sequence similarity 193 member B | |
| Synonyms | IRIZIO | |
| Cytomap | 5q35.3 | |
| Type of gene | protein-coding | |
| Description | protein FAM193B | |
| 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 FAM193B |
| 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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ENSG00000146067
| 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 |
| STG | UP | ENST00000515394.1 | FAM193B-218:retained_intron:FAM193B | 2.837916e+01 | 2.539849e+00 | 8.148441e-07 | 4.483557e-04 |
| STG | UP | ENST00000502403.1 | FAM193B-201:protein_coding:FAM193B | 1.698419e+01 | 1.433394e+00 | 3.790891e-06 | 1.459137e-03 |
| CB | DOWN | ENST00000506879.5 | FAM193B-207:retained_intron:FAM193B | 2.035671e+02 | -1.434674e+00 | 2.592624e-13 | 4.863050e-11 |
| CB | DOWN | ENST00000507212.1 | FAM193B-209:nonsense_mediated_decay:FAM193B | 1.096578e+01 | -8.514408e-01 | 8.936032e-08 | 1.928838e-06 |
| CB | DOWN | ENST00000513282.5 | FAM193B-215:nonsense_mediated_decay:FAM193B | 8.779524e+00 | -1.182563e+00 | 2.901935e-04 | 1.822103e-03 |
| TC | DOWN | ENST00000506879.5 | FAM193B-207:retained_intron:FAM193B | 1.288616e+02 | -1.050725e+00 | 2.434039e-08 | 1.890551e-06 |
| 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 FAM193B |
| 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_106507 | chr5 | 177532443:177532641:177536358:177536745:177537873:177538019 | 177536358:177536745 |
| exon_skip_138089 | chr5 | 177539042:177539147:177552042:177552131:177553168:177553266 | 177552042:177552131 |
| exon_skip_208606 | chr5 | 177531338:177531521:177531953:177532131:177532443:177532533 | 177531953:177532131 |
| exon_skip_237833 | chr5 | 177539042:177539147:177547168:177547228:177553168:177553266 | 177547168:177547228 |
| exon_skip_238293 | chr5 | 177525197:177525205:177532443:177532641:177536358:177536390 | 177532443:177532641 |
| exon_skip_249885 | chr5 | 177532443:177532641:177536358:177536486:177537873:177538019 | 177536358:177536486 |
| exon_skip_254282 | chr5 | 177531338:177531521:177532156:177532200:177532443:177532533 | 177532156:177532200 |
| exon_skip_25815 | chr5 | 177521979:177522071:177523159:177523265:177523957:177524013 | 177523159:177523265 |
| exon_skip_264812 | chr5 | 177525197:177525205:177531282:177531521:177532443:177532533 | 177531282:177531521 |
| exon_skip_267453 | chr5 | 177521974:177522071:177523159:177523265:177523957:177524032 | 177523159:177523265 |
| exon_skip_270669 | chr5 | 177531338:177531521:177531953:177532200:177532443:177532533 | 177531953:177532200 |
| exon_skip_275360 | chr5 | 177525197:177525205:177531282:177531521:177531953:177532131 | 177531282:177531521 |
| exon_skip_275828 | chr5 | 177521974:177522071:177523159:177523265:177523957:177524013 | 177523159:177523265 |
| exon_skip_284510 | chr5 | 177521974:177522071:177523159:177523265:177523957:177523973 | 177523159:177523265 |
| exon_skip_29902 | chr5 | 177538911:177539147:177547168:177547228:177553168:177553266 | 177547168:177547228 |
| exon_skip_35901 | chr5 | 177538911:177539147:177552042:177552131:177553168:177553266 | 177552042:177552131 |
| exon_skip_47922 | chr5 | 177553168:177553350:177553497:177553802:177554249:177554347 | 177553497:177553802 |
| exon_skip_849 | chr5 | 177521974:177522071:177523957:177524032:177524185:177524421 | 177523957:177524032 |
| 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 FAM193B |
| 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 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for FAM193B |
p-ENSG00000146067_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 |
| 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 |
| 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 |
| 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 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FAM193B |
| 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 FAM193B |
| - 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 FAM193B |
| 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 FAM193B |
| 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 FAM193B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | FUBP1 | exon_skip_270669 | 4.110023e-01 | 7.391920e-08 |
| DLPFC | RBM6 | exon_skip_264812 | -4.965653e-01 | 4.447836e-21 |
| DLPFC | RBM6 | exon_skip_270669 | 4.715590e-01 | 4.577189e-19 |
| DLPFC | SRSF11 | exon_skip_270669 | 4.286236e-01 | 1.095973e-15 |
| DLPFC | RBM6 | exon_skip_208606 | 4.668457e-01 | 6.173160e-15 |
| HCC | SFPQ | exon_skip_270669 | 4.288134e-01 | 5.092468e-12 |
| HCC | RBM6 | exon_skip_270669 | 5.162238e-01 | 1.526229e-17 |
| HCC | RBM5 | exon_skip_270669 | 5.001888e-01 | 2.081272e-16 |
| PCC | G3BP2 | exon_skip_67916 | -4.650631e-01 | 4.790775e-11 |
| TC | RBM24 | exon_skip_270669 | -5.073735e-01 | 8.778089e-12 |
| TC | NUP42 | exon_skip_270669 | -5.244585e-01 | 1.289810e-12 |
| TC | HNRNPH2 | exon_skip_270669 | -4.655033e-01 | 6.304516e-10 |
| TC | NOVA1 | exon_skip_270669 | -4.120144e-01 | 6.816687e-08 |
| TC | RBFOX2 | exon_skip_67916 | -4.221533e-01 | 3.071164e-07 |
| TC | ELAVL4 | exon_skip_67916 | -4.908223e-01 | 1.308848e-09 |
| TC | RBM6 | exon_skip_67916 | 4.317436e-01 | 1.537501e-07 |
| TC | G3BP2 | exon_skip_67916 | -4.428731e-01 | 6.703057e-08 |
| TC | RALYL | exon_skip_67916 | -4.810259e-01 | 3.074901e-09 |
| TC | PTBP1 | exon_skip_67916 | 4.112102e-01 | 6.591792e-07 |
| TC | HNRNPH2 | exon_skip_67916 | -4.414341e-01 | 7.475143e-08 |
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RelatedDrugs for FAM193B |
| 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 FAM193B |
| 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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