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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for FANK1 |
 Gene summary |
| Gene information | Gene symbol | FANK1 | Gene ID | 92565 |
| Gene name | fibronectin type III and ankyrin repeat domains 1 | |
| Synonyms | HSD13 | |
| Cytomap | 10q26.2 | |
| Type of gene | protein-coding | |
| Description | fibronectin type 3 and ankyrin repeat domains protein 1fibronectin type 3 and ankyrin repeat domains 1 | |
| Modification date | 20180524 | |
| UniProtAcc | Q8TC84 | |
| Context | PubMed: FANK1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for FANK1 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for FANK1 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for FANK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45957 | 10 | 127585179:127585224:127661941:127662064:127668729:127668894 | 127661941:127662064 | ENSG00000203780.6 | ENST00000449042.2 |
| exon_skip_45962 | 10 | 127585179:127585224:127668729:127668907:127677119:127677208 | 127668729:127668907 | ENSG00000203780.6 | ENST00000368693.1 |
| exon_skip_46012 | 10 | 127661998:127662064:127668729:127668907:127677119:127677244 | 127668729:127668907 | ENSG00000203780.6 | ENST00000417114.1,ENST00000449042.2 |
| exon_skip_46024 | 10 | 127677119:127677244:127677998:127678016:127683985:127684058 | 127677998:127678016 | ENSG00000203780.6 | ENST00000368691.1,ENST00000445510.1,ENST00000368689.1 |
| exon_skip_46031 | 10 | 127685128:127685193:127685988:127686054:127693452:127693618 | 127685988:127686054 | ENSG00000203780.6 | ENST00000368695.1,ENST00000456942.1,ENST00000464130.1,ENST00000368693.1,ENST00000492670.1 |
| exon_skip_46034 | 10 | 127685118:127685193:127693452:127693618:127696975:127697119 | 127693452:127693618 | ENSG00000203780.6 | ENST00000368691.1 |
| exon_skip_46035 | 10 | 127685988:127686054:127693452:127693618:127696975:127697119 | 127693452:127693618 | ENSG00000203780.6 | ENST00000368695.1,ENST00000456942.1,ENST00000368693.1,ENST00000492670.1 |
| exon_skip_46038 | 10 | 127693452:127693618:127695682:127695751:127696975:127697119 | 127695682:127695751 | ENSG00000203780.6 | ENST00000464130.1 |
| exon_skip_46039 | 10 | 127696975:127697119:127697622:127697700:127697790:127697835 | 127697622:127697700 | ENSG00000203780.6 | ENST00000368695.1,ENST00000368693.1,ENST00000492670.1 |
| exon_skip_46043 | 10 | 127697622:127697700:127697790:127697835:127697941:127698023 | 127697790:127697835 | ENSG00000203780.6 | ENST00000368695.1,ENST00000368693.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FANK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45957 | 10 | 127585179:127585224:127661941:127662064:127668729:127668894 | 127661941:127662064 | ENSG00000203780.6 | ENST00000449042.2 |
| exon_skip_45962 | 10 | 127585179:127585224:127668729:127668907:127677119:127677208 | 127668729:127668907 | ENSG00000203780.6 | ENST00000368693.1 |
| exon_skip_46012 | 10 | 127661998:127662064:127668729:127668907:127677119:127677244 | 127668729:127668907 | ENSG00000203780.6 | ENST00000449042.2,ENST00000417114.1 |
| exon_skip_46024 | 10 | 127677119:127677244:127677998:127678016:127683985:127684058 | 127677998:127678016 | ENSG00000203780.6 | ENST00000445510.1,ENST00000368691.1,ENST00000368689.1 |
| exon_skip_46031 | 10 | 127685128:127685193:127685988:127686054:127693452:127693618 | 127685988:127686054 | ENSG00000203780.6 | ENST00000368695.1,ENST00000368693.1,ENST00000492670.1,ENST00000456942.1,ENST00000464130.1 |
| exon_skip_46034 | 10 | 127685118:127685193:127693452:127693618:127696975:127697119 | 127693452:127693618 | ENSG00000203780.6 | ENST00000368691.1 |
| exon_skip_46035 | 10 | 127685988:127686054:127693452:127693618:127696975:127697119 | 127693452:127693618 | ENSG00000203780.6 | ENST00000368695.1,ENST00000368693.1,ENST00000492670.1,ENST00000456942.1 |
| exon_skip_46038 | 10 | 127693452:127693618:127695682:127695751:127696975:127697119 | 127695682:127695751 | ENSG00000203780.6 | ENST00000464130.1 |
| exon_skip_46039 | 10 | 127696975:127697119:127697622:127697700:127697790:127697835 | 127697622:127697700 | ENSG00000203780.6 | ENST00000368695.1,ENST00000368693.1,ENST00000492670.1 |
| exon_skip_46043 | 10 | 127697622:127697700:127697790:127697835:127697941:127698023 | 127697790:127697835 | ENSG00000203780.6 | ENST00000368695.1,ENST00000368693.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for FANK1 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000368693 | 127668729 | 127668907 | Frame-shift |
| ENST00000368693 | 127693452 | 127693618 | Frame-shift |
| ENST00000368693 | 127685988 | 127686054 | In-frame |
| ENST00000368693 | 127697622 | 127697700 | In-frame |
| ENST00000368693 | 127697790 | 127697835 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000368693 | 127668729 | 127668907 | Frame-shift |
| ENST00000368693 | 127693452 | 127693618 | Frame-shift |
| ENST00000368693 | 127685988 | 127686054 | In-frame |
| ENST00000368693 | 127697622 | 127697700 | In-frame |
| ENST00000368693 | 127697790 | 127697835 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FANK1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000368693 | 1311 | 345 | 127685988 | 127686054 | 578 | 643 | 158 | 179 |
| ENST00000368693 | 1311 | 345 | 127697622 | 127697700 | 954 | 1031 | 283 | 309 |
| ENST00000368693 | 1311 | 345 | 127697790 | 127697835 | 1032 | 1076 | 309 | 324 |
| Loci of skipped exons in GTEx 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 |
| ENST00000368693 | 1311 | 345 | 127685988 | 127686054 | 578 | 643 | 158 | 179 |
| ENST00000368693 | 1311 | 345 | 127697622 | 127697700 | 954 | 1031 | 283 | 309 |
| ENST00000368693 | 1311 | 345 | 127697790 | 127697835 | 1032 | 1076 | 309 | 324 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q8TC84 | 158 | 179 | 1 | 345 | Chain | ID=PRO_0000066990;Note=Fibronectin type 3 and ankyrin repeat domains protein 1 |
| Q8TC84 | 158 | 179 | 143 | 172 | Repeat | Note=ANK 2 |
| Q8TC84 | 158 | 179 | 176 | 205 | Repeat | Note=ANK 3 |
| Q8TC84 | 283 | 309 | 1 | 345 | Chain | ID=PRO_0000066990;Note=Fibronectin type 3 and ankyrin repeat domains protein 1 |
| Q8TC84 | 283 | 309 | 277 | 306 | Repeat | Note=ANK 6 |
| Q8TC84 | 309 | 324 | 1 | 345 | Chain | ID=PRO_0000066990;Note=Fibronectin type 3 and ankyrin repeat domains protein 1 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q8TC84 | 158 | 179 | 1 | 345 | Chain | ID=PRO_0000066990;Note=Fibronectin type 3 and ankyrin repeat domains protein 1 |
| Q8TC84 | 158 | 179 | 143 | 172 | Repeat | Note=ANK 2 |
| Q8TC84 | 158 | 179 | 176 | 205 | Repeat | Note=ANK 3 |
| Q8TC84 | 283 | 309 | 1 | 345 | Chain | ID=PRO_0000066990;Note=Fibronectin type 3 and ankyrin repeat domains protein 1 |
| Q8TC84 | 283 | 309 | 277 | 306 | Repeat | Note=ANK 6 |
| Q8TC84 | 309 | 324 | 1 | 345 | Chain | ID=PRO_0000066990;Note=Fibronectin type 3 and ankyrin repeat domains protein 1 |
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SNVs in the skipped exons for FANK1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_46012 exon_skip_45962 | 127668730 | 127668907 | 127668875 | 127668875 | Frame_Shift_Del | C | - | p.D47fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_46012 exon_skip_45962 | 127668730 | 127668907 | 127668792 | 127668792 | Nonsense_Mutation | G | T | p.E20* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_46012 exon_skip_45962 | 127668730 | 127668907 | 127668792 | 127668792 | Nonsense_Mutation | G | T | p.E26X |
| STAD | TCGA-BR-6452-01 | exon_skip_46043 | 127697791 | 127697835 | 127697837 | 127697837 | Splice_Site | T | C | . |
| STAD | TCGA-BR-6452-01 | exon_skip_46043 | 127697791 | 127697835 | 127697837 | 127697837 | Splice_Site | T | C | p.Q324_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-ND-A4WC-01 |
| Cancer type: UCS | |
| ESID: exon_skip_45962 | |
| Skipped exon start: 127668730 | |
| Skipped exon end: 127668907 | |
| Mutation start: 127668792 | |
| Mutation end: 127668792 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E26X | |
| Sample: TCGA-ND-A4WC-01 |
| Cancer type: UCS | |
| ESID: exon_skip_45962 | |
| Skipped exon start: 127668730 | |
| Skipped exon end: 127668907 | |
| Mutation start: 127668792 | |
| Mutation end: 127668792 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E20* | |
exon_skip_149665_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_299626_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_344918_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_360263_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_382353_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_385882_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_443509_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_45962_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_48320_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_484856_UCS_TCGA-ND-A4WC-01.png | |
exon_skip_59444_UCS_TCGA-ND-A4WC-01.png | |
| - 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 |
| NCIH1648_LUNG | 127668730 | 127668907 | 127668845 | 127668845 | Missense_Mutation | G | T | p.Q43H |
| NCIH358_LUNG | 127693453 | 127693618 | 127693526 | 127693526 | Missense_Mutation | G | T | p.A205S |
| CAL12T_LUNG | 127693453 | 127693618 | 127693560 | 127693560 | Missense_Mutation | G | T | p.W216L |
| NCIH1770_LUNG | 127697623 | 127697700 | 127697674 | 127697674 | Missense_Mutation | G | A | p.G301R |
| A704_KIDNEY | 127668730 | 127668907 | 127668745 | 127668745 | Nonsense_Mutation | C | G | p.S10* |
| HEC251_ENDOMETRIUM | 127697791 | 127697835 | 127697809 | 127697809 | Nonsense_Mutation | G | T | p.E316* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FANK1 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FANK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FANK1 |
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RelatedDrugs for FANK1 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for FANK1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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