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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 FER1L6 |
 Gene summary |
| Gene information | Gene symbol | FER1L6 | Gene ID | 654463 |
| Gene name | fer-1 like family member 6 | |
| Synonyms | C8ORFK23 | |
| Cytomap | 8q24.13 | |
| Type of gene | protein-coding | |
| Description | fer-1-like protein 6fer-1-like 6 | |
| Modification date | 20180329 | |
| UniProtAcc | Q2WGJ9 | |
| Context | PubMed: FER1L6 [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 FER1L6 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 FER1L6 |
| 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 FER1L6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485928 | 8 | 124985673:124985752:124987389:124987546:124988137:124988324 | 124987389:124987546 | ENSG00000214814.2 | ENST00000522917.1,ENST00000399018.1 |
| exon_skip_485930 | 8 | 125029867:125029958:125033789:125033909:125035683:125035836 | 125033789:125033909 | ENSG00000214814.2 | ENST00000522917.1,ENST00000399018.1 |
| exon_skip_485931 | 8 | 125035683:125035836:125047517:125047695:125052122:125052247 | 125047517:125047695 | ENSG00000214814.2 | ENST00000522917.1,ENST00000399018.1 |
| exon_skip_485932 | 8 | 125058007:125058142:125061847:125061997:125072420:125072531 | 125061847:125061997 | ENSG00000214814.2 | ENST00000522917.1,ENST00000399018.1 |
| exon_skip_485936 | 8 | 125088438:125088566:125094528:125094699:125103663:125103824 | 125094528:125094699 | ENSG00000214814.2 | ENST00000522917.1,ENST00000399018.1 |
| exon_skip_485937 | 8 | 125103663:125103824:125107136:125107279:125109511:125109600 | 125107136:125107279 | ENSG00000214814.2 | ENST00000522917.1,ENST00000399018.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for FER1L6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485928 | 8 | 124985673:124985752:124987389:124987546:124988137:124988324 | 124987389:124987546 | ENSG00000214814.2 | ENST00000522917.1,ENST00000399018.1 |
| exon_skip_485930 | 8 | 125029867:125029958:125033789:125033909:125035683:125035836 | 125033789:125033909 | ENSG00000214814.2 | ENST00000522917.1,ENST00000399018.1 |
| exon_skip_485931 | 8 | 125035683:125035836:125047517:125047695:125052122:125052247 | 125047517:125047695 | ENSG00000214814.2 | ENST00000522917.1,ENST00000399018.1 |
| exon_skip_485936 | 8 | 125088438:125088566:125094528:125094699:125103663:125103824 | 125094528:125094699 | ENSG00000214814.2 | ENST00000522917.1,ENST00000399018.1 |
| exon_skip_485937 | 8 | 125103663:125103824:125107136:125107279:125109511:125109600 | 125107136:125107279 | ENSG00000214814.2 | ENST00000522917.1,ENST00000399018.1 |
| 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 FER1L6 |
| 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 |
| ENST00000522917 | 124987389 | 124987546 | Frame-shift |
| ENST00000522917 | 125047517 | 125047695 | Frame-shift |
| ENST00000522917 | 125107136 | 125107279 | Frame-shift |
| ENST00000522917 | 125033789 | 125033909 | In-frame |
| ENST00000522917 | 125061847 | 125061997 | In-frame |
| ENST00000522917 | 125094528 | 125094699 | 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 |
| ENST00000522917 | 124987389 | 124987546 | Frame-shift |
| ENST00000522917 | 125047517 | 125047695 | Frame-shift |
| ENST00000522917 | 125107136 | 125107279 | Frame-shift |
| ENST00000522917 | 125033789 | 125033909 | In-frame |
| ENST00000522917 | 125094528 | 125094699 | In-frame |
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Infer the effects of exon skipping event on protein functional features for FER1L6 |
| 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 |
| ENST00000522917 | 6068 | 1857 | 125033789 | 125033909 | 2220 | 2339 | 671 | 711 |
| ENST00000522917 | 6068 | 1857 | 125061847 | 125061997 | 2931 | 3080 | 908 | 958 |
| ENST00000522917 | 6068 | 1857 | 125094528 | 125094699 | 4427 | 4597 | 1407 | 1463 |
| 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 |
| ENST00000522917 | 6068 | 1857 | 125033789 | 125033909 | 2220 | 2339 | 671 | 711 |
| ENST00000522917 | 6068 | 1857 | 125094528 | 125094699 | 4427 | 4597 | 1407 | 1463 |
| 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 |
| Q2WGJ9 | 671 | 711 | 1 | 1857 | Chain | ID=PRO_0000323674;Note=Fer-1-like protein 6 |
| Q2WGJ9 | 671 | 711 | 1 | 1824 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q2WGJ9 | 908 | 958 | 1 | 1857 | Chain | ID=PRO_0000323674;Note=Fer-1-like protein 6 |
| Q2WGJ9 | 908 | 958 | 813 | 918 | Domain | Note=C2 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q2WGJ9 | 908 | 958 | 1 | 1824 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q2WGJ9 | 1407 | 1463 | 1 | 1857 | Chain | ID=PRO_0000323674;Note=Fer-1-like protein 6 |
| Q2WGJ9 | 1407 | 1463 | 1343 | 1441 | Domain | Note=C2 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q2WGJ9 | 1407 | 1463 | 1 | 1824 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q2WGJ9 | 671 | 711 | 1 | 1857 | Chain | ID=PRO_0000323674;Note=Fer-1-like protein 6 |
| Q2WGJ9 | 671 | 711 | 1 | 1824 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q2WGJ9 | 1407 | 1463 | 1 | 1857 | Chain | ID=PRO_0000323674;Note=Fer-1-like protein 6 |
| Q2WGJ9 | 1407 | 1463 | 1343 | 1441 | Domain | Note=C2 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00041 |
| Q2WGJ9 | 1407 | 1463 | 1 | 1824 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for FER1L6 |
| - 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-A3A0-01 | exon_skip_485930 | 125033790 | 125033909 | 125033835 | 125033835 | Frame_Shift_Del | A | - | p.K688fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_485930 | 125033790 | 125033909 | 125033884 | 125033884 | Frame_Shift_Del | A | - | p.E703fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_485930 | 125033790 | 125033909 | 125033884 | 125033884 | Frame_Shift_Del | A | - | p.I705fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_485930 | 125033790 | 125033909 | 125033884 | 125033884 | Frame_Shift_Del | A | - | p.E703fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_485930 | 125033790 | 125033909 | 125033884 | 125033884 | Frame_Shift_Del | A | - | p.E703fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_485930 | 125033790 | 125033909 | 125033884 | 125033884 | Frame_Shift_Del | A | - | p.E703fs |
| STAD | TCGA-HU-A4GN-01 | exon_skip_485930 | 125033790 | 125033909 | 125033884 | 125033884 | Frame_Shift_Del | A | - | p.E703fs |
| PRAD | TCGA-ZG-A9ND-01 | exon_skip_485931 | 125047518 | 125047695 | 125047624 | 125047628 | Frame_Shift_Del | TAGGC | - | p.VG798fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_485931 | 125047518 | 125047695 | 125047670 | 125047670 | Frame_Shift_Del | C | - | p.H813fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_485931 | 125047518 | 125047695 | 125047670 | 125047670 | Frame_Shift_Del | C | - | p.H813fs |
| LUAD | TCGA-64-5781-01 | exon_skip_485931 | 125047518 | 125047695 | 125047670 | 125047670 | Frame_Shift_Del | C | - | p.H813fs |
| STAD | TCGA-HU-A4H4-01 | exon_skip_485932 | 125061848 | 125061997 | 125061917 | 125061917 | Frame_Shift_Del | C | - | p.E931fs |
| UCEC | TCGA-AP-A05A-01 | exon_skip_485931 | 125047518 | 125047695 | 125047669 | 125047670 | Frame_Shift_Ins | - | C | p.H813fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_485932 | 125061848 | 125061997 | 125061917 | 125061918 | Frame_Shift_Ins | - | C | p.E931fs |
| SARC | TCGA-LI-A9QH-01 | exon_skip_485928 | 124987390 | 124987546 | 124987395 | 124987395 | Nonsense_Mutation | C | T | p.Q178* |
| BLCA | TCGA-ZF-AA4R-01 | exon_skip_485931 | 125047518 | 125047695 | 125047530 | 125047530 | Nonsense_Mutation | C | T | p.R767* |
| GBM | TCGA-06-0219-01 | exon_skip_485931 | 125047518 | 125047695 | 125047530 | 125047530 | Nonsense_Mutation | C | T | p.R767* |
| SKCM | TCGA-ER-A193-06 | exon_skip_485932 | 125061848 | 125061997 | 125061927 | 125061927 | Nonsense_Mutation | T | A | p.L935* |
| SKCM | TCGA-ER-A193-06 | exon_skip_485932 | 125061848 | 125061997 | 125061927 | 125061927 | Nonsense_Mutation | T | A | p.L935X |
| BRCA | TCGA-BH-A1ET-01 | exon_skip_485931 | 125047518 | 125047695 | 125047696 | 125047696 | Splice_Site | G | A | e18+1 |
| BRCA | TCGA-E2-A15O-01 | exon_skip_485931 | 125047518 | 125047695 | 125047696 | 125047696 | Splice_Site | G | T | e18+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 |
| EFO27_OVARY | 125033790 | 125033909 | 125033884 | 125033884 | Frame_Shift_Del | A | - | p.E703fs |
| HS606T_FIBROBLAST | 124987390 | 124987546 | 124987479 | 124987479 | Missense_Mutation | G | A | p.V206I |
| HEC108_ENDOMETRIUM | 125033790 | 125033909 | 125033865 | 125033865 | Missense_Mutation | G | A | p.E697K |
| HT115_LARGE_INTESTINE | 125033790 | 125033909 | 125033898 | 125033898 | Missense_Mutation | C | A | p.L708I |
| KS1_CENTRAL_NERVOUS_SYSTEM | 125047518 | 125047695 | 125047521 | 125047521 | Missense_Mutation | C | T | p.P764S |
| NCIH1155_LUNG | 125047518 | 125047695 | 125047572 | 125047572 | Missense_Mutation | C | A | p.L781M |
| CAL12T_LUNG | 125047518 | 125047695 | 125047671 | 125047671 | Missense_Mutation | C | T | p.P814S |
| OAW42_OVARY | 125061848 | 125061997 | 125061909 | 125061909 | Missense_Mutation | A | G | p.D929G |
| NCIBL128_MATCHED_NORMAL_TISSUE | 125061848 | 125061997 | 125061969 | 125061969 | Missense_Mutation | A | T | p.D949V |
| NCIH128_LUNG | 125061848 | 125061997 | 125061969 | 125061969 | Missense_Mutation | A | T | p.D949V |
| EW7_BONE | 125094529 | 125094699 | 125094635 | 125094635 | Missense_Mutation | G | A | p.D1443N |
| HT115_LARGE_INTESTINE | 125094529 | 125094699 | 125094648 | 125094648 | Missense_Mutation | G | A | p.R1447H |
| MYLA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 125094529 | 125094699 | 125094683 | 125094683 | Missense_Mutation | C | A | p.Q1459K |
| CW2_LARGE_INTESTINE | 125107137 | 125107279 | 125107145 | 125107145 | Missense_Mutation | G | A | p.V1521M |
| RVH421_SKIN | 125107137 | 125107279 | 125107150 | 125107150 | Missense_Mutation | G | C | p.E1522D |
| SNU1214_UPPER_AERODIGESTIVE_TRACT | 125107137 | 125107279 | 125107185 | 125107185 | Missense_Mutation | C | T | p.S1534F |
| MZ7MEL_SKIN | 125107137 | 125107279 | 125107220 | 125107220 | Missense_Mutation | G | A | p.V1546I |
| KYSE220_OESOPHAGUS | 125047518 | 125047695 | 125047576 | 125047576 | Nonsense_Mutation | G | A | p.W782* |
| JHUEM7_ENDOMETRIUM | 125047518 | 125047695 | 125047632 | 125047632 | Nonsense_Mutation | G | T | p.E801* |
| CP50MELB_SKIN | 125047518 | 125047695 | 125047692 | 125047692 | Nonsense_Mutation | C | T | p.Q821* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for FER1L6 |
| 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 FER1L6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for FER1L6 |
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RelatedDrugs for FER1L6 |
| 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 FER1L6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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