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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 TNFRSF1A |
 Gene summary |
| Gene information | Gene symbol | TNFRSF1A | Gene ID | 7132 |
| Gene name | TNF receptor superfamily member 1A | |
| Synonyms | CD120a|FPF|TBP1|TNF-R|TNF-R-I|TNF-R55|TNFAR|TNFR1|TNFR55|TNFR60|p55|p55-R|p60 | |
| Cytomap | 12p13.31 | |
| Type of gene | protein-coding | |
| Description | tumor necrosis factor receptor superfamily member 1ATNF-R1TNF-RITNFR-Itumor necrosis factor binding protein 1tumor necrosis factor receptor 1A isoform betatumor necrosis factor receptor type 1tumor necrosis factor-alpha receptor | |
| Modification date | 20180523 | |
| UniProtAcc | P19438 | |
| Context | PubMed: TNFRSF1A [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 TNFRSF1A 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 TNFRSF1A |
| 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 TNFRSF1A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_89385 | 12 | 6438630:6438788:6438943:6439232:6439432:6439461 | 6438943:6439232 | ENSG00000067182.3 | ENST00000543995.1,ENST00000540022.1,ENST00000162749.2,ENST00000543359.1,ENST00000534885.1,ENST00000536717.1 |
| exon_skip_89389 | 12 | 6438943:6439232:6439432:6439461:6439763:6439877 | 6439432:6439461 | ENSG00000067182.3 | ENST00000543995.1,ENST00000540022.1,ENST00000162749.2,ENST00000543359.1,ENST00000534885.1,ENST00000536717.1 |
| exon_skip_89393 | 12 | 6439763:6439877:6440018:6440092:6442234:6442271 | 6440018:6440092 | ENSG00000067182.3 | ENST00000543995.1,ENST00000540022.1,ENST00000537842.1,ENST00000162749.2,ENST00000534885.1,ENST00000539372.1 |
| exon_skip_89405 | 12 | 6440018:6440092:6442234:6442313:6442532:6442608 | 6442234:6442313 | ENSG00000067182.3 | ENST00000543995.1,ENST00000540022.1,ENST00000537842.1,ENST00000162749.2,ENST00000534885.1,ENST00000539372.1 |
| exon_skip_89409 | 12 | 6442532:6442617:6443010:6443031:6443256:6443410 | 6443010:6443031 | ENSG00000067182.3 | ENST00000543048.1 |
| exon_skip_89410 | 12 | 6442532:6442682:6442902:6443004:6443256:6443410 | 6442902:6443004 | ENSG00000067182.3 | ENST00000536194.1 |
| exon_skip_89411 | 12 | 6442532:6442682:6442902:6443031:6443256:6443410 | 6442902:6443031 | ENSG00000067182.3 | ENST00000162749.2,ENST00000366159.4,ENST00000437813.3,ENST00000539372.1,ENST00000440083.2 |
| exon_skip_89413 | 12 | 6443010:6443031:6443256:6443410:6450941:6451014 | 6443256:6443410 | ENSG00000067182.3 | ENST00000162749.2,ENST00000366159.4,ENST00000539372.1,ENST00000440083.2,ENST00000543048.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for TNFRSF1A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_89385 | 12 | 6438630:6438788:6438943:6439232:6439432:6439461 | 6438943:6439232 | ENSG00000067182.3 | ENST00000534885.1,ENST00000162749.2,ENST00000536717.1,ENST00000543995.1,ENST00000540022.1,ENST00000543359.1 |
| exon_skip_89389 | 12 | 6438943:6439232:6439432:6439461:6439763:6439877 | 6439432:6439461 | ENSG00000067182.3 | ENST00000534885.1,ENST00000162749.2,ENST00000536717.1,ENST00000543995.1,ENST00000540022.1,ENST00000543359.1 |
| exon_skip_89393 | 12 | 6439763:6439877:6440018:6440092:6442234:6442271 | 6440018:6440092 | ENSG00000067182.3 | ENST00000534885.1,ENST00000162749.2,ENST00000543995.1,ENST00000540022.1,ENST00000537842.1,ENST00000539372.1 |
| exon_skip_89405 | 12 | 6440018:6440092:6442234:6442313:6442532:6442608 | 6442234:6442313 | ENSG00000067182.3 | ENST00000534885.1,ENST00000162749.2,ENST00000543995.1,ENST00000540022.1,ENST00000537842.1,ENST00000539372.1 |
| exon_skip_89409 | 12 | 6442532:6442617:6443010:6443031:6443256:6443410 | 6443010:6443031 | ENSG00000067182.3 | ENST00000543048.1 |
| exon_skip_89410 | 12 | 6442532:6442682:6442902:6443004:6443256:6443410 | 6442902:6443004 | ENSG00000067182.3 | ENST00000536194.1 |
| exon_skip_89411 | 12 | 6442532:6442682:6442902:6443031:6443256:6443410 | 6442902:6443031 | ENSG00000067182.3 | ENST00000162749.2,ENST00000539372.1,ENST00000366159.4,ENST00000437813.3,ENST00000440083.2 |
| exon_skip_89413 | 12 | 6443010:6443031:6443256:6443410:6450941:6451014 | 6443256:6443410 | ENSG00000067182.3 | ENST00000162749.2,ENST00000539372.1,ENST00000366159.4,ENST00000543048.1,ENST00000440083.2 |
| 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 TNFRSF1A |
| 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 |
| ENST00000162749 | 6438943 | 6439232 | Frame-shift |
| ENST00000162749 | 6439432 | 6439461 | Frame-shift |
| ENST00000162749 | 6440018 | 6440092 | Frame-shift |
| ENST00000162749 | 6442234 | 6442313 | Frame-shift |
| ENST00000162749 | 6443256 | 6443410 | Frame-shift |
| ENST00000162749 | 6442902 | 6443031 | 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 |
| ENST00000162749 | 6438943 | 6439232 | Frame-shift |
| ENST00000162749 | 6439432 | 6439461 | Frame-shift |
| ENST00000162749 | 6440018 | 6440092 | Frame-shift |
| ENST00000162749 | 6442234 | 6442313 | Frame-shift |
| ENST00000162749 | 6443256 | 6443410 | Frame-shift |
| ENST00000162749 | 6442902 | 6443031 | In-frame |
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Infer the effects of exon skipping event on protein functional features for TNFRSF1A |
| 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 |
| ENST00000162749 | 2240 | 455 | 6442902 | 6443031 | 494 | 622 | 64 | 107 |
| 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 |
| ENST00000162749 | 2240 | 455 | 6442902 | 6443031 | 494 | 622 | 64 | 107 |
| 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 |
| 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 |
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SNVs in the skipped exons for TNFRSF1A |
| - 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. |
TNFRSF1A_COAD_exon_skip_89413_psi_boxplot.png |
| - 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 |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_89385 | 6438944 | 6439232 | 6439158 | 6439158 | Frame_Shift_Del | G | - | p.P281fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_89410 | 6442903 | 6443004 | 6442944 | 6442944 | Frame_Shift_Del | T | - | p.N94fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_89411 | 6442903 | 6443031 | 6442944 | 6442944 | Frame_Shift_Del | T | - | p.N94fs |
| COAD | TCGA-F4-6570-01 | exon_skip_89413 | 6443257 | 6443410 | 6443371 | 6443371 | Frame_Shift_Del | C | - | p.V27fs |
| UCEC | TCGA-D1-A17Q-01 | exon_skip_89405 | 6442235 | 6442313 | 6442260 | 6442260 | Nonsense_Mutation | C | A | p.E176* |
| CESC | TCGA-C5-A1BQ-01 | exon_skip_89410 | 6442903 | 6443004 | 6442925 | 6442925 | Nonsense_Mutation | G | C | p.S49* |
| CESC | TCGA-C5-A1BQ-01 | exon_skip_89411 | 6442903 | 6443031 | 6442925 | 6442925 | Nonsense_Mutation | G | C | p.S49* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-F4-6570-01 |
| Cancer type: COAD | |
| ESID: exon_skip_89413 | |
| Skipped exon start: 6443257 | |
| Skipped exon end: 6443410 | |
| Mutation start: 6443371 | |
| Mutation end: 6443371 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.V27fs | |
exon_skip_135806_COAD_TCGA-F4-6570-01.png | |
exon_skip_422548_COAD_TCGA-F4-6570-01.png | |
exon_skip_454428_COAD_TCGA-F4-6570-01.png | |
exon_skip_454431_COAD_TCGA-F4-6570-01.png | |
exon_skip_454433_COAD_TCGA-F4-6570-01.png | |
exon_skip_89413_COAD_TCGA-F4-6570-01.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 |
| FTC238_THYROID | 6438944 | 6439232 | 6438989 | 6438989 | Missense_Mutation | G | T | p.L338I |
| SKNDZ_AUTONOMIC_GANGLIA | 6438944 | 6439232 | 6438992 | 6438992 | Missense_Mutation | G | A | p.P337S |
| OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6438944 | 6439232 | 6439069 | 6439069 | Missense_Mutation | C | T | p.R311H |
| PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6438944 | 6439232 | 6439139 | 6439139 | Missense_Mutation | C | T | p.V288M |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6438944 | 6439232 | 6439139 | 6439139 | Missense_Mutation | C | T | p.V288M |
| NCIH740_LUNG | 6438944 | 6439232 | 6439178 | 6439178 | Missense_Mutation | G | A | p.P275S |
| COLO680N_OESOPHAGUS | 6439433 | 6439461 | 6439439 | 6439439 | Missense_Mutation | T | G | p.E254D |
| MZ7MEL_SKIN | 6439433 | 6439461 | 6439441 | 6439441 | Missense_Mutation | C | T | p.E254K |
| TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6442903 | 6443004 | 6442962 | 6442962 | Missense_Mutation | G | C | p.S88C |
| TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6442903 | 6443031 | 6442962 | 6442962 | Missense_Mutation | G | C | p.S88C |
| PC9_LUNG | 6442903 | 6443004 | 6443008 | 6443008 | Missense_Mutation | G | A | p.P73S |
| PC9_LUNG | 6442903 | 6443031 | 6443008 | 6443008 | Missense_Mutation | G | A | p.P73S |
| PC9_LUNG | 6443011 | 6443031 | 6443008 | 6443008 | Missense_Mutation | G | A | p.P73S |
| OPM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 6443257 | 6443410 | 6443259 | 6443259 | Missense_Mutation | T | C | p.K64R |
| JHUEM7_ENDOMETRIUM | 6443257 | 6443410 | 6443283 | 6443283 | Missense_Mutation | G | A | p.S56L |
| HT115_LARGE_INTESTINE | 6443257 | 6443410 | 6443283 | 6443283 | Missense_Mutation | G | A | p.S56L |
| MDST8_LARGE_INTESTINE | 6438944 | 6439232 | 6439208 | 6439208 | Nonsense_Mutation | T | A | p.K265* |
| CP67MEL_SKIN | 6443257 | 6443410 | 6443257 | 6443257 | Splice_Site | C | T | p.G65R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for TNFRSF1A |
| 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 TNFRSF1A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for TNFRSF1A |
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RelatedDrugs for TNFRSF1A |
| 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 |
| P19438 | DB11626 | Tasonermin | Tumor necrosis factor receptor superfamily member 1A | biotech | approved |
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RelatedDiseases for TNFRSF1A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| TNFRSF1A | C0011570 | Mental Depression | 5 | PSYGENET |
| TNFRSF1A | C0011581 | Depressive disorder | 5 | PSYGENET |
| TNFRSF1A | C1275126 | TNF receptor-associated periodic fever syndrome (TRAPS) | 4 | CTD_human;ORPHANET;UNIPROT |
| TNFRSF1A | C0026769 | Multiple Sclerosis | 2 | CTD_human |
| TNFRSF1A | C0003123 | Anorexia | 1 | CTD_human |
| TNFRSF1A | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| TNFRSF1A | C0006625 | Cachexia | 1 | CTD_human |
| TNFRSF1A | C0007786 | Brain Ischemia | 1 | CTD_human |
| TNFRSF1A | C0010674 | Cystic Fibrosis | 1 | CTD_human |
| TNFRSF1A | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| TNFRSF1A | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| TNFRSF1A | C0015967 | Fever | 1 | CTD_human |
| TNFRSF1A | C0018801 | Heart failure | 1 | CTD_human |
| TNFRSF1A | C0020517 | Hypersensitivity | 1 | CTD_human |
| TNFRSF1A | C0023892 | Biliary cirrhosis | 1 | CTD_human |
| TNFRSF1A | C0032285 | Pneumonia | 1 | CTD_human |
| TNFRSF1A | C0036341 | Schizophrenia | 1 | PSYGENET |
| TNFRSF1A | C0242706 | Hyperoxia | 1 | CTD_human |
| TNFRSF1A | C0273115 | Lung Injury | 1 | CTD_human |
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