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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 FAM227B |
 Gene summary |
| Gene information | Gene symbol | FAM227B | Gene ID | 196951 |
| Gene name | family with sequence similarity 227 member B | |
| Synonyms | C15orf33 | |
| Cytomap | 15q21.2 | |
| Type of gene | protein-coding | |
| Description | protein FAM227B | |
| 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 FAM227B |
| 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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ENSG00000166262
| 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 | ENST00000561064.5 | FAM227B-212:protein_coding:FAM227B | 1.242342e+00 | -1.062026e+00 | 1.358497e-02 | 4.451357e-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 FAM227B |
| 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_104314 | chr15 | 49576761:49576845:49577172:49577305:49588016:49588083 | 49577172:49577305 |
| exon_skip_111058 | chr15 | 49541680:49541806:49568245:49568346:49575011:49575109 | 49568245:49568346 |
| exon_skip_167587 | chr15 | 49615121:49615243:49620134:49620190:49620631:49620747 | 49620134:49620190 |
| exon_skip_185768 | chr15 | 49588016:49588083:49589776:49590007:49611215:49611268 | 49589776:49590007 |
| exon_skip_239396 | chr15 | 49576761:49576845:49577172:49577305:49577629:49577664 | 49577172:49577305 |
| exon_skip_250951 | chr15 | 49615121:49615243:49620134:49620190:49620700:49620816 | 49620134:49620190 |
| exon_skip_284194 | chr15 | 49615121:49615243:49620134:49620190:49620700:49620818 | 49620134:49620190 |
| exon_skip_34557 | chr15 | 49577172:49577305:49577629:49577664:49588016:49588083 | 49577629:49577664 |
| exon_skip_37001 | chr15 | 49589776:49590007:49606156:49606218:49611215:49611268 | 49606156:49606218 |
| exon_skip_83318 | chr15 | 49589776:49590007:49611215:49611268:49615121:49615171 | 49611215:49611268 |
| exon_skip_91225 | chr15 | 49576761:49576845:49577629:49577664:49588016:49588083 | 49577629:49577664 |
| exon_skip_92073 | chr15 | 49577629:49577664:49588016:49588083:49611215:49611268 | 49588016:49588083 |
| 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 FAM227B |
| 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 |
| ENST00000299338 | 49589776 | 49590007 | Frame-shift |
| ENST00000299338 | 49568245 | 49568346 | In-frame |
| ENST00000299338 | 49577629 | 49577664 | In-frame |
| ENST00000299338 | 49611215 | 49611268 | 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 |
| ENST00000299338 | 49589776 | 49590007 | 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 |
| ENST00000299338 | 49589776 | 49590007 | Frame-shift |
| ENST00000299338 | 49568245 | 49568346 | In-frame |
| ENST00000299338 | 49577629 | 49577664 | In-frame |
| ENST00000299338 | 49611215 | 49611268 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FAM227B |
p-ENSG00000166262_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 |
| ENST00000299338 | 2025 | 508 | 49611215 | 49611268 | 356 | 408 | 17 | 34 |
| ENST00000299338 | 2025 | 508 | 49577629 | 49577664 | 710 | 744 | 135 | 146 |
| ENST00000299338 | 2025 | 508 | 49568245 | 49568346 | 950 | 1050 | 215 | 248 |
| 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 |
| ENST00000299338 | 2025 | 508 | 49611215 | 49611268 | 356 | 408 | 17 | 34 |
| ENST00000299338 | 2025 | 508 | 49577629 | 49577664 | 710 | 744 | 135 | 146 |
| ENST00000299338 | 2025 | 508 | 49568245 | 49568346 | 950 | 1050 | 215 | 248 |
| 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 |
| Q96M60 | 17 | 34 | 1 | 508 | Chain | ID=PRO_0000244098;Note=Protein FAM227B |
| Q96M60 | 135 | 146 | 1 | 508 | Chain | ID=PRO_0000244098;Note=Protein FAM227B |
| Q96M60 | 215 | 248 | 216 | 249 | Alternative sequence | ID=VSP_019517;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96M60 | 215 | 248 | 1 | 508 | Chain | ID=PRO_0000244098;Note=Protein FAM227B |
| 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 |
| Q96M60 | 17 | 34 | 1 | 508 | Chain | ID=PRO_0000244098;Note=Protein FAM227B |
| Q96M60 | 135 | 146 | 1 | 508 | Chain | ID=PRO_0000244098;Note=Protein FAM227B |
| Q96M60 | 215 | 248 | 216 | 249 | Alternative sequence | ID=VSP_019517;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q96M60 | 215 | 248 | 1 | 508 | Chain | ID=PRO_0000244098;Note=Protein FAM227B |
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3'-UTR located exon skipping events that lost miRNA binding sites in FAM227B |
| 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 FAM227B |
| - 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 FAM227B |
| 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 FAM227B |
| 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 FAM227B |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FAM227B |
| 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 FAM227B |
| 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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