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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 ANKFN1 |
 Gene summary |
| Gene information | Gene symbol | ANKFN1 | Gene ID | 162282 |
| Gene name | ankyrin repeat and fibronectin type III domain containing 1 | |
| Synonyms | - | |
| Cytomap | 17q22 | |
| Type of gene | protein-coding | |
| Description | ankyrin repeat and fibronectin type-III domain-containing protein 1 | |
| Modification date | 20180329 | |
| UniProtAcc | Q8N957 | |
| Context | PubMed: ANKFN1 [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 ANKFN1 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 ANKFN1 |
| 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 ANKFN1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_154627 | 17 | 54535223:54535340:54543716:54543932:54554848:54555015 | 54543716:54543932 | ENSG00000153930.6 | ENST00000566473.2,ENST00000318698.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ANKFN1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_154627 | 17 | 54535223:54535340:54543716:54543932:54554848:54555015 | 54543716:54543932 | ENSG00000153930.6 | ENST00000318698.2,ENST00000566473.2 |
| 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 ANKFN1 |
| 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 |
| ENST00000318698 | 54543716 | 54543932 | 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 |
| ENST00000318698 | 54543716 | 54543932 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ANKFN1 |
| 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 |
| ENST00000318698 | 2443 | 763 | 54543716 | 54543932 | 1602 | 1817 | 522 | 594 |
| 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 |
| ENST00000318698 | 2443 | 763 | 54543716 | 54543932 | 1602 | 1817 | 522 | 594 |
| 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 |
| Q8N957 | 522 | 594 | 1 | 763 | Chain | ID=PRO_0000247138;Note=Ankyrin repeat and fibronectin type-III domain-containing 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 |
| Q8N957 | 522 | 594 | 1 | 763 | Chain | ID=PRO_0000247138;Note=Ankyrin repeat and fibronectin type-III domain-containing protein 1 |
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SNVs in the skipped exons for ANKFN1 |
| - 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-A1EG-01 | exon_skip_154627 | 54543717 | 54543932 | 54543825 | 54543825 | Frame_Shift_Del | T | - | p.F560fs |
| STAD | TCGA-BR-4184-01 | exon_skip_154627 | 54543717 | 54543932 | 54543825 | 54543825 | Frame_Shift_Del | T | - | p.S558fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_154627 | 54543717 | 54543932 | 54543925 | 54543925 | Frame_Shift_Del | C | - | p.T592fs |
| SKCM | TCGA-QB-AA9O-06 | exon_skip_154627 | 54543717 | 54543932 | 54543771 | 54543771 | Nonsense_Mutation | C | T | p.R541* |
| CESC | TCGA-JW-A5VL-01 | exon_skip_154627 | 54543717 | 54543932 | 54543853 | 54543853 | Nonsense_Mutation | C | G | p.S568* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_154627 | 54543717 | 54543932 | 54543716 | 54543716 | Splice_Site | G | T | e14-1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| MM386_SKIN | 54543717 | 54543932 | 54543742 | 54543742 | Missense_Mutation | G | A | p.G531E |
| NCIH650_LUNG | 54543717 | 54543932 | 54543834 | 54543834 | Missense_Mutation | G | T | p.G562C |
| NCIH1618_LUNG | 54543717 | 54543932 | 54543875 | 54543875 | Missense_Mutation | G | T | p.K575N |
| MZ7MEL_SKIN | 54543717 | 54543932 | 54543888 | 54543888 | Missense_Mutation | C | T | p.P580S |
| NCIH64_LUNG | 54543717 | 54543932 | 54543925 | 54543925 | Missense_Mutation | C | G | p.T592S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ANKFN1 |
| 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 ANKFN1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ANKFN1 |
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RelatedDrugs for ANKFN1 |
| 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 ANKFN1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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