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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 RFTN1 |
 Gene summary |
| Gene information | Gene symbol | RFTN1 | Gene ID | 23180 |
| Gene name | raftlin, lipid raft linker 1 | |
| Synonyms | MIG2|PIB10|PIG9|RAFTLIN | |
| Cytomap | 3p24.3 | |
| Type of gene | protein-coding | |
| Description | raftlincell migration-inducing gene 2 proteinproliferation-inducing protein 10proliferation-inducing protein 9raft-linking protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q14699 | |
| Context | PubMed: RFTN1 [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 RFTN1 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 RFTN1 |
| 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 RFTN1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_381791 | 3 | 16358681:16358739:16364882:16364964:16368279:16368374 | 16364882:16364964 | ENSG00000131378.9 | ENST00000483671.1,ENST00000334133.4,ENST00000432519.1 |
| exon_skip_381798 | 3 | 16364882:16364964:16368279:16368383:16399438:16399554 | 16368279:16368383 | ENSG00000131378.9 | ENST00000483671.1,ENST00000334133.4,ENST00000432519.1 |
| exon_skip_381800 | 3 | 16368279:16368383:16399438:16399554:16411582:16411786 | 16399438:16399554 | ENSG00000131378.9 | ENST00000483671.1,ENST00000334133.4,ENST00000432519.1 |
| exon_skip_381801 | 3 | 16399438:16399554:16411582:16411786:16419224:16419609 | 16411582:16411786 | ENSG00000131378.9 | ENST00000334133.4,ENST00000432519.1 |
| exon_skip_381802 | 3 | 16450979:16450990:16457618:16457718:16475357:16475544 | 16457618:16457718 | ENSG00000131378.9 | ENST00000453536.1 |
| exon_skip_381803 | 3 | 16450979:16450990:16475357:16475544:16535231:16535384 | 16475357:16475544 | ENSG00000131378.9 | ENST00000451036.1,ENST00000441460.1,ENST00000431547.1,ENST00000334133.4,ENST00000449415.1 |
| exon_skip_381804 | 3 | 16475357:16475544:16535231:16535384:16554948:16555029 | 16535231:16535384 | ENSG00000131378.9 | ENST00000453536.1,ENST00000334133.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RFTN1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_381791 | 3 | 16358681:16358739:16364882:16364964:16368279:16368374 | 16364882:16364964 | ENSG00000131378.9 | ENST00000432519.1,ENST00000334133.4,ENST00000483671.1 |
| exon_skip_381798 | 3 | 16364882:16364964:16368279:16368383:16399438:16399554 | 16368279:16368383 | ENSG00000131378.9 | ENST00000432519.1,ENST00000334133.4,ENST00000483671.1 |
| exon_skip_381800 | 3 | 16368279:16368383:16399438:16399554:16411582:16411786 | 16399438:16399554 | ENSG00000131378.9 | ENST00000432519.1,ENST00000334133.4,ENST00000483671.1 |
| exon_skip_381801 | 3 | 16399438:16399554:16411582:16411786:16419224:16419609 | 16411582:16411786 | ENSG00000131378.9 | ENST00000432519.1,ENST00000334133.4 |
| exon_skip_381802 | 3 | 16450979:16450990:16457618:16457718:16475357:16475544 | 16457618:16457718 | ENSG00000131378.9 | ENST00000453536.1 |
| exon_skip_381803 | 3 | 16450979:16450990:16475357:16475544:16535231:16535384 | 16475357:16475544 | ENSG00000131378.9 | ENST00000334133.4,ENST00000451036.1,ENST00000449415.1,ENST00000441460.1,ENST00000431547.1 |
| exon_skip_381804 | 3 | 16475357:16475544:16535231:16535384:16554948:16555029 | 16535231:16535384 | ENSG00000131378.9 | ENST00000334133.4,ENST00000453536.1 |
| 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 RFTN1 |
| 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 |
| ENST00000334133 | 16535231 | 16535384 | 3UTR-3CDS |
| ENST00000334133 | 16364882 | 16364964 | Frame-shift |
| ENST00000334133 | 16368279 | 16368383 | Frame-shift |
| ENST00000334133 | 16399438 | 16399554 | Frame-shift |
| ENST00000334133 | 16475357 | 16475544 | Frame-shift |
| ENST00000334133 | 16411582 | 16411786 | 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 |
| ENST00000334133 | 16535231 | 16535384 | 3UTR-3CDS |
| ENST00000334133 | 16364882 | 16364964 | Frame-shift |
| ENST00000334133 | 16368279 | 16368383 | Frame-shift |
| ENST00000334133 | 16399438 | 16399554 | Frame-shift |
| ENST00000334133 | 16475357 | 16475544 | Frame-shift |
| ENST00000334133 | 16411582 | 16411786 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RFTN1 |
| 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 |
| ENST00000334133 | 2999 | 578 | 16411582 | 16411786 | 1100 | 1303 | 275 | 343 |
| 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 |
| ENST00000334133 | 2999 | 578 | 16411582 | 16411786 | 1100 | 1303 | 275 | 343 |
| 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 |
| Q14699 | 275 | 343 | 2 | 578 | Chain | ID=PRO_0000050718;Note=Raftlin |
| 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 |
| Q14699 | 275 | 343 | 2 | 578 | Chain | ID=PRO_0000050718;Note=Raftlin |
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SNVs in the skipped exons for RFTN1 |
| - 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-AACY-01 | exon_skip_381798 | 16368280 | 16368383 | 16368341 | 16368341 | Frame_Shift_Del | G | - | p.L397fs |
| LGG | TCGA-TQ-A7RK-01 | exon_skip_381801 | 16411583 | 16411786 | 16411682 | 16411685 | Frame_Shift_Del | CTGT | - | p.TV310fs |
| LGG | TCGA-TQ-A7RK-02 | exon_skip_381801 | 16411583 | 16411786 | 16411682 | 16411685 | Frame_Shift_Del | CTGT | - | p.TV310fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_381801 | 16411583 | 16411786 | 16411765 | 16411765 | Frame_Shift_Del | A | - | p.F283fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_381803 | 16475358 | 16475544 | 16475401 | 16475401 | Frame_Shift_Del | G | - | p.L97fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_381804 | 16535232 | 16535384 | 16535335 | 16535335 | Frame_Shift_Del | T | - | p.K14fs |
| LUSC | TCGA-39-5037-01 | exon_skip_381803 | 16475358 | 16475544 | 16475533 | 16475534 | Frame_Shift_Ins | - | A | p.P52fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_381803 | 16475358 | 16475544 | 16475359 | 16475359 | Nonsense_Mutation | T | A | p.R111X |
| STAD | TCGA-IN-8462-01 | exon_skip_381803 | 16475358 | 16475544 | 16475457 | 16475457 | Nonsense_Mutation | G | T | p.S78* |
| STAD | TCGA-IN-8462-01 | exon_skip_381803 | 16475358 | 16475544 | 16475457 | 16475457 | Nonsense_Mutation | G | T | p.S78X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_381804 | 16535232 | 16535384 | 16535268 | 16535268 | Nonsense_Mutation | C | A | p.E37* |
| BLCA | TCGA-XF-AAMG-01 | exon_skip_381804 | 16535232 | 16535384 | 16535315 | 16535315 | Nonsense_Mutation | G | C | p.S21* |
| SKCM | TCGA-D3-A3C7-06 | exon_skip_381801 | 16411583 | 16411786 | 16411787 | 16411787 | Splice_Site | C | T | . |
| - 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 |
| LS411N_LARGE_INTESTINE | 16364883 | 16364964 | 16364921 | 16364921 | Missense_Mutation | G | A | p.P432S |
| HCC70_BREAST | 16364883 | 16364964 | 16364925 | 16364925 | Missense_Mutation | C | G | p.Q430H |
| M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16364883 | 16364964 | 16364962 | 16364962 | Missense_Mutation | T | A | p.E418V |
| HEC1_ENDOMETRIUM | 16368280 | 16368383 | 16368283 | 16368283 | Missense_Mutation | G | T | p.T416N |
| NK92MI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16368280 | 16368383 | 16368326 | 16368326 | Missense_Mutation | A | G | p.W402R |
| BT20_BREAST | 16399439 | 16399554 | 16399534 | 16399534 | Missense_Mutation | C | T | p.D351N |
| HEC108_ENDOMETRIUM | 16411583 | 16411786 | 16411735 | 16411735 | Missense_Mutation | C | T | p.R293Q |
| HT115_LARGE_INTESTINE | 16411583 | 16411786 | 16411756 | 16411756 | Missense_Mutation | G | A | p.P286L |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16411583 | 16411786 | 16411756 | 16411756 | Missense_Mutation | G | A | p.P286L |
| GP2D_LARGE_INTESTINE | 16475358 | 16475544 | 16475428 | 16475428 | Missense_Mutation | G | A | p.P88S |
| GP5D_LARGE_INTESTINE | 16475358 | 16475544 | 16475428 | 16475428 | Missense_Mutation | G | A | p.P88S |
| A673_BONE | 16475358 | 16475544 | 16475457 | 16475457 | Missense_Mutation | G | A | p.S78L |
| LU139_LUNG | 16475358 | 16475544 | 16475485 | 16475485 | Missense_Mutation | G | A | p.L69F |
| SKCO1_LARGE_INTESTINE | 16535232 | 16535384 | 16535278 | 16535278 | Missense_Mutation | A | T | p.D33E |
| SNU1040_LARGE_INTESTINE | 16535232 | 16535384 | 16535362 | 16535362 | Missense_Mutation | C | A | p.L5F |
| LCLC103H_LUNG | 16368280 | 16368383 | 16368371 | 16368371 | Nonsense_Mutation | G | A | p.Q387* |
| MEWO_SKIN | 16475358 | 16475544 | 16475470 | 16475470 | Nonsense_Mutation | G | A | p.Q74* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RFTN1 |
| 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 RFTN1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RFTN1 |
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RelatedDrugs for RFTN1 |
| 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 RFTN1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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