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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 FUZ |
 Gene summary |
| Gene information | Gene symbol | FUZ | Gene ID | 80199 |
| Gene name | fuzzy planar cell polarity protein | |
| Synonyms | CPLANE3|FY|NTD | |
| Cytomap | 19q13.33 | |
| Type of gene | protein-coding | |
| Description | protein fuzzy homologciliogenesis and planar polarity effector 3fuzzy homolog | |
| 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 FUZ |
| 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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ENSG00000010361
| 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 | ENST00000529634.2 | FUZ-214:protein_coding:FUZ | 1.757332e+01 | -9.226526e-01 | 1.169891e-06 | 1.713693e-05 |
| CB | DOWN | ENST00000533418.5 | FUZ-216:protein_coding:FUZ | 1.448814e+02 | -1.056283e+00 | 8.142607e-06 | 8.885837e-05 |
| 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 FUZ |
| 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_106989 | chr19 | 49812280:49812335:49812638:49812736:49812996:49813156 | 49812638:49812736 |
| exon_skip_118573 | chr19 | 49812280:49812335:49812447:49812736:49812996:49813037 | 49812447:49812736 |
| exon_skip_119648 | chr19 | 49812280:49812335:49812447:49812736:49812996:49813156 | 49812447:49812736 |
| exon_skip_124241 | chr19 | 49812280:49812335:49812447:49812685:49812996:49813037 | 49812447:49812685 |
| exon_skip_137152 | chr19 | 49809163:49809258:49809378:49809575:49811363:49811467 | 49809378:49809575 |
| exon_skip_137313 | chr19 | 49811631:49811699:49812251:49812335:49812615:49812736 | 49812251:49812335 |
| exon_skip_145959 | chr19 | 49807345:49807374:49808115:49808159:49808414:49808488 | 49808115:49808159 |
| exon_skip_153346 | chr19 | 49808619:49808638:49808717:49808823:49809163:49809258 | 49808717:49808823 |
| exon_skip_159917 | chr19 | 49807001:49807374:49808115:49808159:49808414:49808488 | 49808115:49808159 |
| exon_skip_171012 | chr19 | 49812280:49812335:49812447:49812685:49812996:49813156 | 49812447:49812685 |
| exon_skip_172299 | chr19 | 49811631:49811699:49812251:49812335:49812996:49813156 | 49812251:49812335 |
| exon_skip_172401 | chr19 | 49812280:49812335:49812638:49812736:49812996:49813037 | 49812638:49812736 |
| exon_skip_17923 | chr19 | 49811631:49811699:49812638:49812736:49812996:49813156 | 49812638:49812736 |
| exon_skip_18087 | chr19 | 49809163:49809258:49809378:49809575:49811363:49811402 | 49809378:49809575 |
| exon_skip_229322 | chr19 | 49812280:49812335:49812615:49812736:49812996:49813156 | 49812615:49812736 |
| exon_skip_230679 | chr19 | 49812280:49812335:49812447:49812736:49813133:49813235 | 49812447:49812736 |
| exon_skip_248106 | chr19 | 49812280:49812335:49812615:49812736:49813133:49813235 | 49812615:49812736 |
| exon_skip_271123 | chr19 | 49812280:49812335:49812615:49812736:49812996:49813037 | 49812615:49812736 |
| exon_skip_280517 | chr19 | 49811631:49811699:49812638:49812736:49812996:49813037 | 49812638:49812736 |
| exon_skip_286492 | chr19 | 49811631:49811699:49812251:49812335:49812447:49812685 | 49812251:49812335 |
| exon_skip_30513 | chr19 | 49812280:49812335:49812615:49812736:49812996:49813029 | 49812615:49812736 |
| exon_skip_33905 | chr19 | 49806920:49807374:49808115:49808159:49808414:49808488 | 49808115:49808159 |
| exon_skip_33918 | chr19 | 49811631:49811699:49812251:49812335:49812638:49812736 | 49812251:49812335 |
| exon_skip_39277 | chr19 | 49811631:49811699:49812615:49812736:49812996:49813156 | 49812615:49812736 |
| exon_skip_52494 | chr19 | 49811631:49811699:49812251:49812335:49812996:49813037 | 49812251:49812335 |
| exon_skip_53642 | chr19 | 49812280:49812335:49812447:49812736:49812996:49813029 | 49812447:49812736 |
| exon_skip_72482 | chr19 | 49811631:49811699:49812615:49812736:49812996:49813037 | 49812615:49812736 |
| exon_skip_79337 | chr19 | 49812280:49812335:49812638:49812736:49812996:49813029 | 49812638:49812736 |
| 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_119648 | Mayo_CB | 4.885185e-01 | 5.941667e-01 | -1.056481e-01 | 6.821649e-03 |
| exon_skip_229322 | Mayo_CB | 6.485000e-01 | 7.741333e-01 | -1.256333e-01 | 3.776575e-07 |
| exon_skip_106989 | Mayo_CB | 2.541667e-01 | 4.108197e-01 | -1.566530e-01 | 2.198626e-06 |
| exon_skip_53642 | Mayo_TC | 5.555263e-01 | 6.800000e-01 | -1.244737e-01 | 1.126470e-02 |
| exon_skip_79337 | Mayo_TC | 4.325974e-01 | 5.332308e-01 | -1.006334e-01 | 2.205719e-04 |
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Open reading frame (ORF) annotation in the exon skipping event for FUZ |
| 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 |
| ENST00000313777 | 49808717 | 49808823 | Frame-shift |
| ENST00000313777 | 49812251 | 49812335 | Frame-shift |
| ENST00000313777 | 49809378 | 49809575 | 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 |
| ENST00000313777 | 49808717 | 49808823 | Frame-shift |
| ENST00000313777 | 49812251 | 49812335 | Frame-shift |
| ENST00000313777 | 49809378 | 49809575 | 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 |
| ENST00000313777 | 49808717 | 49808823 | Frame-shift |
| ENST00000313777 | 49812251 | 49812335 | Frame-shift |
| ENST00000313777 | 49809378 | 49809575 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FUZ |
p-ENSG00000010361_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 |
| ENST00000313777 | 1692 | 418 | 49809378 | 49809575 | 657 | 853 | 164 | 229 |
| 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 |
| ENST00000313777 | 1692 | 418 | 49809378 | 49809575 | 657 | 853 | 164 | 229 |
| 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 |
| ENST00000313777 | 1692 | 418 | 49809378 | 49809575 | 657 | 853 | 164 | 229 |
| 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 |
| Q9BT04 | 164 | 229 | 1 | 418 | Chain | ID=PRO_0000312920;Note=Protein fuzzy homolog |
| Q9BT04 | 164 | 229 | 175 | 175 | Natural variant | ID=VAR_037616;Note=G->D;Dbxref=dbSNP:rs35002951 |
| 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 |
| Q9BT04 | 164 | 229 | 1 | 418 | Chain | ID=PRO_0000312920;Note=Protein fuzzy homolog |
| Q9BT04 | 164 | 229 | 175 | 175 | Natural variant | ID=VAR_037616;Note=G->D;Dbxref=dbSNP:rs35002951 |
| 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 |
| Q9BT04 | 164 | 229 | 1 | 418 | Chain | ID=PRO_0000312920;Note=Protein fuzzy homolog |
| Q9BT04 | 164 | 229 | 175 | 175 | Natural variant | ID=VAR_037616;Note=G->D;Dbxref=dbSNP:rs35002951 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FUZ |
| 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 FUZ |
| - 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 FUZ |
| 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 FUZ |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| CB | exon_skip_119648 | rs7251463 | chr19:49798288 | 1.169443e-19 | 6.389837e-16 |
| CB | exon_skip_119648 | rs2286948 | chr19:49813497 | 8.715792e-14 | 1.668153e-10 |
| CB | exon_skip_119648 | rs11083985 | chr19:49874886 | 4.195170e-11 | 4.659638e-08 |
| CB | exon_skip_119648 | rs731826 | chr19:49877601 | 4.195170e-11 | 4.659638e-08 |
| CB | exon_skip_119648 | rs1674139 | chr19:49768245 | 2.780967e-07 | 1.200131e-04 |
| CB | exon_skip_171012 | rs7251463 | chr19:49798288 | 3.029041e-07 | 1.294000e-04 |
| CB | exon_skip_171012 | rs2286948 | chr19:49813497 | 4.753283e-07 | 1.887761e-04 |
| CB | exon_skip_171012 | rs11083985 | chr19:49874886 | 2.829179e-05 | 6.132024e-03 |
| CB | exon_skip_171012 | rs731826 | chr19:49877601 | 2.829179e-05 | 6.132024e-03 |
| CB | exon_skip_119648 | rs10403127 | chr19:49838854 | 2.159159e-04 | 3.178853e-02 |
| CB | exon_skip_171012 | rs1674139 | chr19:49768245 | 2.164615e-04 | 3.182736e-02 |
| CB | exon_skip_39277 | rs1273642 | chr19:49768062 | 2.825019e-04 | 3.896685e-02 |
| TC | exon_skip_53642 | rs7251463 | chr19:49798288 | 5.437461e-18 | 2.086040e-14 |
| TC | exon_skip_53642 | rs2286948 | chr19:49813497 | 4.405705e-14 | 9.155330e-11 |
| TC | exon_skip_171012 | rs2286948 | chr19:49813497 | 1.760993e-10 | 1.688979e-07 |
| TC | exon_skip_53642 | rs11083985 | chr19:49874886 | 8.200960e-08 | 3.701453e-05 |
| TC | exon_skip_53642 | rs731826 | chr19:49877601 | 8.200960e-08 | 3.701453e-05 |
| TC | exon_skip_171012 | rs7251463 | chr19:49798288 | 1.279651e-07 | 5.501783e-05 |
| TC | exon_skip_53642 | rs1674139 | chr19:49768245 | 1.470814e-06 | 4.802267e-04 |
| HCC | exon_skip_119648 | rs8104825 | chr19:49812166 | 1.707489e-10 | 5.751005e-08 |
| HCC | exon_skip_119648 | rs7251463 | chr19:49798288 | 4.878029e-10 | 1.543695e-07 |
| HCC | exon_skip_119648 | rs731826 | chr19:49877601 | 7.891916e-09 | 1.974779e-06 |
| HCC | exon_skip_119648 | rs11083985 | chr19:49874886 | 1.459219e-08 | 3.475942e-06 |
| HCC | exon_skip_119648 | rs2257103 | chr19:49866809 | 1.590950e-08 | 3.765609e-06 |
| HCC | exon_skip_119648 | rs2305922 | chr19:49866849 | 5.603877e-08 | 1.181929e-05 |
| HCC | exon_skip_171012 | rs8104825 | chr19:49812166 | 3.937183e-06 | 5.535331e-04 |
| HCC | exon_skip_171012 | rs7251463 | chr19:49798288 | 7.547752e-06 | 9.854454e-04 |
| HCC | exon_skip_119648 | rs2286948 | chr19:49813497 | 3.303052e-05 | 3.550748e-03 |
| HCC | exon_skip_171012 | rs2257103 | chr19:49866809 | 2.472812e-04 | 1.931697e-02 |
| HCC | exon_skip_137313 | rs7251463 | chr19:49798288 | 3.132526e-04 | 2.336600e-02 |
| HCC | exon_skip_171012 | rs731826 | chr19:49877601 | 3.805440e-04 | 2.730627e-02 |
| HCC | exon_skip_171012 | rs2305922 | chr19:49866849 | 3.939333e-04 | 2.807467e-02 |
| HCC | exon_skip_171012 | rs11083985 | chr19:49874886 | 4.369753e-04 | 3.047346e-02 |
| HCC | exon_skip_137313 | rs2305922 | chr19:49866849 | 7.762389e-04 | 4.792228e-02 |
| HCC | exon_skip_137313 | rs11083985 | chr19:49874886 | 8.032619e-04 | 4.919850e-02 |
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Correlation with RNA binding proteins (RBPs) for FUZ |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
| CB | KHSRP | exon_skip_229322 | -4.162982e-01 | 7.144143e-08 |
| CB | RBM45 | exon_skip_229322 | 4.213358e-01 | 4.775830e-08 |
| CB | HNRNPL | exon_skip_229322 | -4.092488e-01 | 1.241484e-07 |
| CB | CNOT4 | exon_skip_106989 | -4.126715e-01 | 7.972577e-07 |
| CB | RBM45 | exon_skip_106989 | 4.911226e-01 | 1.949112e-09 |
| HCC | MSI1 | exon_skip_119648 | 4.478188e-01 | 5.436570e-13 |
| HCC | RBM6 | exon_skip_119648 | 4.052906e-01 | 1.052815e-10 |
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RelatedDrugs for FUZ |
| 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 FUZ |
| 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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