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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 RASSF1 |
 Gene summary |
| Gene information | Gene symbol | RASSF1 | Gene ID | 11186 |
| Gene name | Ras association domain family member 1 | |
| Synonyms | 123F2|NORE2A|RASSF1A|RDA32|REH3P21 | |
| Cytomap | 3p21.31 | |
| Type of gene | protein-coding | |
| Description | ras association domain-containing protein 1Ras association (RalGDS/AF-6) domain family member 1WUGSC:H_LUCA12.5cardiac-specific ras association domain family 1 proteinpancreas-specific ras association domain family 1 proteintumor suppressor protein R | |
| Modification date | 20180519 | |
| UniProtAcc | Q9NS23 | |
| Context | PubMed: RASSF1 [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 |
| RASSF1 | GO:0007265 | Ras protein signal transduction | 15109305 |
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Exon skipping events across known transcript of Ensembl for RASSF1 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 RASSF1 |
| 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 RASSF1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_384604 | 3 | 50368764:50368880:50368989:50369287:50369480:50369585 | 50368989:50369287 | ENSG00000068028.13 | ENST00000395117.2,ENST00000357043.2,ENST00000359365.4,ENST00000395126.3,ENST00000327761.3 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENSG00000068028.13 | ENST00000395117.2 |
| exon_skip_384615 | 3 | 50369480:50369585:50375335:50375442:50377986:50378261 | 50375335:50375442 | ENSG00000068028.13 | ENST00000359365.4 |
| exon_skip_384616 | 3 | 50369480:50369585:50375335:50375454:50377986:50378261 | 50375335:50375454 | ENSG00000068028.13 | ENST00000357043.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RASSF1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_384604 | 3 | 50368764:50368880:50368989:50369287:50369480:50369585 | 50368989:50369287 | ENSG00000068028.13 | ENST00000327761.3,ENST00000395126.3,ENST00000357043.2,ENST00000395117.2,ENST00000359365.4 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENSG00000068028.13 | ENST00000395117.2 |
| exon_skip_384615 | 3 | 50369480:50369585:50375335:50375442:50377986:50378261 | 50375335:50375442 | ENSG00000068028.13 | ENST00000359365.4 |
| exon_skip_384616 | 3 | 50369480:50369585:50375335:50375454:50377986:50378261 | 50375335:50375454 | ENSG00000068028.13 | ENST00000357043.2 |
| 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 RASSF1 |
| 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 |
| ENST00000357043 | 50368989 | 50369287 | Frame-shift |
| ENST00000357043 | 50375335 | 50375454 | Frame-shift |
| 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 |
| ENST00000357043 | 50368989 | 50369287 | Frame-shift |
| ENST00000357043 | 50375335 | 50375454 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RASSF1 |
| 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 |
| 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 |
| 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 RASSF1 |
| - 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-G3-A3CJ-01 | exon_skip_384615 | 50375336 | 50375442 | 50375380 | 50375380 | Frame_Shift_Del | G | - | p.R105fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_384616 | 50375336 | 50375454 | 50375380 | 50375380 | Frame_Shift_Del | G | - | p.R105fs |
| SKCM | TCGA-EE-A29D-06 | exon_skip_384604 | 50368990 | 50369287 | 50369288 | 50369288 | 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 |
| MFE319_ENDOMETRIUM | 50375336 | 50375442 | 50375380 | 50375380 | Frame_Shift_Del | G | - | p.R109fs |
| MFE319_ENDOMETRIUM | 50375336 | 50375454 | 50375380 | 50375380 | Frame_Shift_Del | G | - | p.R109fs |
| HS172T_FIBROBLAST | 50368990 | 50369287 | 50369011 | 50369011 | Missense_Mutation | G | A | p.R251C |
| MEWO_SKIN | 50368990 | 50369287 | 50369041 | 50369041 | Missense_Mutation | C | T | p.D241N |
| HO1N1_UPPER_AERODIGESTIVE_TRACT | 50368990 | 50369287 | 50369094 | 50369094 | Missense_Mutation | C | T | p.R223H |
| NCIH1385_LUNG | 50368990 | 50369287 | 50369148 | 50369148 | Missense_Mutation | C | T | p.R205H |
| HCC2998_LARGE_INTESTINE | 50368990 | 50369287 | 50369221 | 50369221 | Missense_Mutation | G | A | p.P181S |
| CHLA218_BONE | 50369481 | 50369585 | 50369539 | 50369539 | Missense_Mutation | A | G | p.I139T |
| NCIH2135_LUNG | 50369481 | 50369585 | 50369539 | 50369539 | Missense_Mutation | A | G | p.I139T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RASSF1 |
| 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 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | COAD | rs2073498 | chr3:50369546 | C/A | 1.44e-05 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | COAD | rs2073498 | chr3:50369546 | C/A | 1.36e-04 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | BLCA | rs2073498 | chr3:50369546 | C/A | 1.36e-03 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | HNSC | rs2073498 | chr3:50369546 | C/A | 1.51e-04 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | HNSC | rs2073498 | chr3:50369546 | C/A | 1.67e-03 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | LAML | rs2073498 | chr3:50369546 | C/A | 6.79e-07 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | KIRP | rs2073498 | chr3:50369546 | C/A | 2.64e-04 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | LGG | rs2073498 | chr3:50369546 | C/A | 7.40e-07 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | LGG | rs2073498 | chr3:50369546 | C/A | 3.60e-03 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | OV | rs2073498 | chr3:50369546 | C/A | 6.07e-08 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | PRAD | rs2073498 | chr3:50369546 | C/A | 5.24e-04 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | SARC | rs2073498 | chr3:50369546 | C/A | 1.35e-03 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | STAD | rs2073498 | chr3:50369546 | C/A | 2.62e-07 |
| exon_skip_384610 | 3 | 50368989:50369287:50369480:50369585:50377986:50378343 | 50369480:50369585 | ENST00000395117.2 | THCA | rs2073498 | chr3:50369546 | C/A | 2.98e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RASSF1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RASSF1 |
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RelatedDrugs for RASSF1 |
| 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 RASSF1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RASSF1 | C0025500 | Mesothelioma | 2 | CTD_human |
| RASSF1 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| RASSF1 | C0005686 | Urinary Bladder Diseases | 1 | CTD_human |
| RASSF1 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
| RASSF1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| RASSF1 | C0007194 | Hypertrophic Cardiomyopathy | 1 | CTD_human |
| RASSF1 | C0021390 | Inflammatory Bowel Diseases | 1 | CTD_human |
| RASSF1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| RASSF1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| RASSF1 | C0025149 | Medulloblastoma | 1 | CTD_human |
| RASSF1 | C0036323 | Schistosomiasis | 1 | CTD_human |
| RASSF1 | C1449861 | Micronuclei, Chromosome-Defective | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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