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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 FAT1 |
 Gene summary |
| Gene information | Gene symbol | FAT1 | Gene ID | 2195 |
| Gene name | FAT atypical cadherin 1 | |
| Synonyms | CDHF7|CDHR8|FAT|ME5|hFat1 | |
| Cytomap | 4q35.2 | |
| Type of gene | protein-coding | |
| Description | protocadherin Fat 1FAT tumor suppressor 1cadherin ME5cadherin family member 7cadherin-related family member 8cadherin-related tumor suppressor homologprotein fat 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 FAT1 |
| 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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ENSG00000083857
| 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 |
| HCC | UP | ENST00000500085.2 | FAT1-202:retained_intron:FAT1 | 4.465463e+01 | 2.500208e+00 | 3.349508e-04 | 1.640955e-02 |
| TC | UP | ENST00000507105.1 | FAT1-204:protein_coding:FAT1 | 2.828641e+01 | 8.561187e-01 | 1.360420e-04 | 2.063446e-03 |
| TC | UP | ENST00000512772.5 | FAT1-211:protein_coding:FAT1 | 1.900373e+01 | 9.534630e-01 | 5.549511e-04 | 6.242791e-03 |
| 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 FAT1 |
| 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_103378 | chr4 | 186636025:186636235:186636585:186636914:186639722:186639783 | 186636585:186636914 |
| exon_skip_109819 | chr4 | 186663299:186663613:186706563:186709845:186723664:186723833 | 186706563:186709845 |
| exon_skip_13557 | chr4 | 186590368:186590403:186592693:186592752:186595689:186595745 | 186592693:186592752 |
| exon_skip_151647 | chr4 | 186589072:186589220:186595689:186595826:186596540:186596841 | 186595689:186595826 |
| exon_skip_161613 | chr4 | 186617005:186617201:186617708:186621775:186628154:186628364 | 186617708:186621775 |
| exon_skip_163741 | chr4 | 186595689:186595826:186596540:186597171:186597682:186597792 | 186596540:186597171 |
| exon_skip_204914 | chr4 | 186590368:186590403:186592693:186592752:186595689:186595800 | 186592693:186592752 |
| exon_skip_212920 | chr4 | 186589147:186589220:186590368:186590403:186595689:186595745 | 186590368:186590403 |
| exon_skip_234074 | chr4 | 186595689:186595826:186597034:186597171:186597682:186597792 | 186597034:186597171 |
| exon_skip_245591 | chr4 | 186589072:186589220:186595689:186595826:186597034:186597171 | 186595689:186595826 |
| exon_skip_252781 | chr4 | 186590368:186590403:186592693:186592752:186595689:186595826 | 186592693:186592752 |
| exon_skip_290676 | chr4 | 186589072:186589220:186590368:186590403:186595689:186595826 | 186590368:186590403 |
| exon_skip_42113 | chr4 | 186589072:186589220:186590368:186590403:186595689:186595745 | 186590368:186590403 |
| 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 FAT1 |
| 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 |
| ENST00000441802 | 186596540 | 186597171 | 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 |
| ENST00000441802 | 186636585 | 186636914 | 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 |
| ENST00000441802 | 186596540 | 186597171 | Frame-shift |
| ENST00000441802 | 186595689 | 186595826 | In-frame |
| ENST00000441802 | 186617708 | 186621775 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FAT1 |
p-ENSG00000083857_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 |
| ENST00000441802 | 14803 | 4588 | 186636585 | 186636914 | 3853 | 4181 | 1214 | 1323 |
| 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 |
| ENST00000441802 | 14803 | 4588 | 186617708 | 186621775 | 5021 | 9087 | 1603 | 2959 |
| ENST00000441802 | 14803 | 4588 | 186595689 | 186595826 | 13211 | 13347 | 4333 | 4379 |
| 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 |
| Q14517 | 1214 | 1323 | 22 | 4588 | Chain | ID=PRO_0000004017;Note=Protocadherin Fat 1 |
| Q14517 | 1214 | 1323 | 1140 | 1245 | Domain | Note=Cadherin 10;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1214 | 1323 | 1246 | 1357 | Domain | Note=Cadherin 11;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1214 | 1323 | 1273 | 1273 | Sequence conflict | Note=H->R;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q14517 | 1214 | 1323 | 22 | 4181 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q14517 | 1603 | 2959 | 22 | 4588 | Chain | ID=PRO_0000004017;Note=Protocadherin Fat 1 |
| Q14517 | 1603 | 2959 | 1563 | 1667 | Domain | Note=Cadherin 14;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 1668 | 1765 | Domain | Note=Cadherin 15;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 1766 | 1879 | Domain | Note=Cadherin 16;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 1880 | 1979 | Domain | Note=Cadherin 17;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 1980 | 2081 | Domain | Note=Cadherin 18;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 2082 | 2182 | Domain | Note=Cadherin 19;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 2183 | 2283 | Domain | Note=Cadherin 20;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 2284 | 2390 | Domain | Note=Cadherin 21;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 2391 | 2492 | Domain | Note=Cadherin 22;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 2493 | 2596 | Domain | Note=Cadherin 23;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 2597 | 2703 | Domain | Note=Cadherin 24;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 2704 | 2809 | Domain | Note=Cadherin 25;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 2810 | 2918 | Domain | Note=Cadherin 26;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 2919 | 3023 | Domain | Note=Cadherin 27;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00043 |
| Q14517 | 1603 | 2959 | 1748 | 1748 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14517 | 1603 | 2959 | 1864 | 1864 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14517 | 1603 | 2959 | 1902 | 1902 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14517 | 1603 | 2959 | 1940 | 1940 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14517 | 1603 | 2959 | 1991 | 1991 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14517 | 1603 | 2959 | 2325 | 2325 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14517 | 1603 | 2959 | 2464 | 2464 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14517 | 1603 | 2959 | 1605 | 1605 | Natural variant | ID=VAR_055593;Note=N->D;Dbxref=dbSNP:rs6836935 |
| Q14517 | 1603 | 2959 | 1930 | 1930 | Natural variant | ID=VAR_080734;Note=Found in a patient with spinocerebellar ataxia%3B unknown pathological significance. D->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29053796;Dbxref=PMID:29053796 |
| Q14517 | 1603 | 2959 | 1604 | 1604 | Sequence conflict | Note=G->GNIG;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q14517 | 1603 | 2959 | 2006 | 2006 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q14517 | 1603 | 2959 | 2054 | 2054 | Sequence conflict | Note=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q14517 | 1603 | 2959 | 2385 | 2385 | Sequence conflict | Note=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q14517 | 1603 | 2959 | 2618 | 2619 | Sequence conflict | Note=VL->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q14517 | 1603 | 2959 | 2718 | 2718 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q14517 | 1603 | 2959 | 22 | 4181 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q14517 | 4333 | 4379 | 22 | 4588 | Chain | ID=PRO_0000004017;Note=Protocadherin Fat 1 |
| Q14517 | 4333 | 4379 | 4378 | 4382 | Motif | Note=PTB-like motif;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| Q14517 | 4333 | 4379 | 4203 | 4588 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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3'-UTR located exon skipping events that lost miRNA binding sites in FAT1 |
| 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 FAT1 |
| - 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 FAT1 |
| 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 FAT1 |
| 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 FAT1 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for FAT1 |
| 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 FAT1 |
| 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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