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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 ARAF |
 Gene summary |
| Gene information | Gene symbol | ARAF | Gene ID | 369 |
| Gene name | A-Raf proto-oncogene, serine/threonine kinase | |
| Synonyms | A-RAF|ARAF1|PKS2|RAFA1 | |
| Cytomap | Xp11.3 | |
| Type of gene | protein-coding | |
| Description | serine/threonine-protein kinase A-RafA-Raf proto-oncogene serine/threonine-protein kinaseOncogene ARAF1Ras-binding protein DA-Rafproto-oncogene A-Raf-1proto-oncogene Pksv-raf murine sarcoma 3611 viral oncogene homolog 1v-raf murine sarcoma 3611 vir | |
| Modification date | 20180523 | |
| UniProtAcc | P10398 | |
| Context | PubMed: ARAF [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 |
| ARAF | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19667065 |
| ARAF | GO:0043066 | negative regulation of apoptotic process | 19667065 |
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Exon skipping events across known transcript of Ensembl for ARAF 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 ARAF |
| 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 ARAF |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_510143 | X | 47424650:47424749:47426037:47426179:47426282:47426310 | 47426037:47426179 | ENSG00000078061.8 | ENST00000377045.4 |
| exon_skip_510153 | X | 47429384:47429423:47430276:47430411:47430721:47430805 | 47430276:47430411 | ENSG00000078061.8 | ENST00000470206.1,ENST00000377045.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARAF |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_510143 | X | 47424650:47424749:47426037:47426179:47426282:47426310 | 47426037:47426179 | ENSG00000078061.8 | ENST00000377045.4 |
| exon_skip_510153 | X | 47429384:47429423:47430276:47430411:47430721:47430805 | 47430276:47430411 | ENSG00000078061.8 | ENST00000377045.4,ENST00000470206.1 |
| 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 ARAF |
| 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 |
| ENST00000377045 | 47426037 | 47426179 | Frame-shift |
| ENST00000377045 | 47430276 | 47430411 | 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 |
| ENST00000377045 | 47426037 | 47426179 | Frame-shift |
| ENST00000377045 | 47430276 | 47430411 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARAF |
| 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 |
| ENST00000377045 | 2475 | 606 | 47430276 | 47430411 | 1746 | 1880 | 517 | 562 |
| 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 |
| ENST00000377045 | 2475 | 606 | 47430276 | 47430411 | 1746 | 1880 | 517 | 562 |
| 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 |
| P10398 | 517 | 562 | 187 | 606 | Alternative sequence | ID=VSP_045610;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17535970,ECO:0000303|Ref.5;Dbxref=PMID:17535970 |
| P10398 | 517 | 562 | 1 | 606 | Chain | ID=PRO_0000085622;Note=Serine/threonine-protein kinase A-Raf |
| P10398 | 517 | 562 | 310 | 570 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
| 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 |
| P10398 | 517 | 562 | 187 | 606 | Alternative sequence | ID=VSP_045610;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:17535970,ECO:0000303|Ref.5;Dbxref=PMID:17535970 |
| P10398 | 517 | 562 | 1 | 606 | Chain | ID=PRO_0000085622;Note=Serine/threonine-protein kinase A-Raf |
| P10398 | 517 | 562 | 310 | 570 | Domain | Note=Protein kinase;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00159 |
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SNVs in the skipped exons for ARAF |
| - 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. |
ARAF_LIHC_exon_skip_510143_psi_boxplot.png |
ARAF_STAD_exon_skip_510143_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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_510143 | 47426038 | 47426179 | 47426071 | 47426071 | Frame_Shift_Del | C | - | p.F197fs |
| HNSC | TCGA-QK-A8Z8-01 | exon_skip_510143 | 47426038 | 47426179 | 47426094 | 47426094 | Frame_Shift_Del | C | - | p.A205fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_510143 | 47426038 | 47426179 | 47426094 | 47426094 | Frame_Shift_Del | C | - | p.A205fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_510143 | 47426038 | 47426179 | 47426094 | 47426094 | Frame_Shift_Del | C | - | p.A205fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_510143 | 47426038 | 47426179 | 47426094 | 47426094 | Frame_Shift_Del | C | - | p.A208fs |
| STAD | TCGA-BR-8368-01 | exon_skip_510143 | 47426038 | 47426179 | 47426094 | 47426094 | Frame_Shift_Del | C | - | p.A205fs |
| UCEC | TCGA-BG-A0M0-01 | exon_skip_510143 | 47426038 | 47426179 | 47426094 | 47426094 | Frame_Shift_Del | C | - | p.A205fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_510143 | 47426038 | 47426179 | 47426154 | 47426154 | Frame_Shift_Del | C | - | p.A225fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_510153 | 47430277 | 47430411 | 47430339 | 47430339 | Frame_Shift_Del | C | - | p.C538fs |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-BR-8368-01 |
| Cancer type: STAD | |
| ESID: exon_skip_510143 | |
| Skipped exon start: 47426038 | |
| Skipped exon end: 47426179 | |
| Mutation start: 47426094 | |
| Mutation end: 47426094 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.A205fs | |
exon_skip_122794_STAD_TCGA-BR-8368-01.png | |
exon_skip_300158_STAD_TCGA-BR-8368-01.png | |
exon_skip_336630_STAD_TCGA-BR-8368-01.png | |
exon_skip_451867_STAD_TCGA-BR-8368-01.png | |
exon_skip_469307_STAD_TCGA-BR-8368-01.png | |
exon_skip_469308_STAD_TCGA-BR-8368-01.png | |
exon_skip_469318_STAD_TCGA-BR-8368-01.png | |
exon_skip_469321_STAD_TCGA-BR-8368-01.png | |
exon_skip_481431_STAD_TCGA-BR-8368-01.png | |
exon_skip_510143_STAD_TCGA-BR-8368-01.png | |
exon_skip_61768_STAD_TCGA-BR-8368-01.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 |
| IGROV1_OVARY | 47426038 | 47426179 | 47426094 | 47426094 | Frame_Shift_Del | C | - | p.A205fs |
| MFM223_BREAST | 47426038 | 47426179 | 47426061 | 47426061 | Missense_Mutation | C | T | p.P194L |
| NCIH1355_LUNG | 47426038 | 47426179 | 47426094 | 47426094 | Missense_Mutation | C | A | p.A205D |
| HEC251_ENDOMETRIUM | 47426038 | 47426179 | 47426132 | 47426132 | Missense_Mutation | G | A | p.V218I |
| SNUC2B_LARGE_INTESTINE | 47426038 | 47426179 | 47426135 | 47426135 | Missense_Mutation | C | A | p.H219N |
| CCK81_LARGE_INTESTINE | 47426038 | 47426179 | 47426151 | 47426151 | Missense_Mutation | C | T | p.T224M |
| HS683_CENTRAL_NERVOUS_SYSTEM | 47426038 | 47426179 | 47426176 | 47426176 | Missense_Mutation | C | G | p.I232M |
| CW2_LARGE_INTESTINE | 47430277 | 47430411 | 47430314 | 47430314 | Missense_Mutation | A | G | p.D530G |
| AMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 47430277 | 47430411 | 47430355 | 47430355 | Missense_Mutation | C | T | p.R544C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARAF |
| 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 ARAF |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARAF |
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RelatedDrugs for ARAF |
| 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 ARAF |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ARAF | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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