|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for ARV1 |
 Gene summary |
| Gene information | Gene symbol | ARV1 | Gene ID | 64801 |
| Gene name | ARV1 homolog, fatty acid homeostasis modulator | |
| Synonyms | EIEE38 | |
| Cytomap | 1q42.2 | |
| Type of gene | protein-coding | |
| Description | protein ARV1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H2C2 | |
| Context | PubMed: ARV1 [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 |
Top |
Exon skipping events across known transcript of Ensembl for ARV1 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. |
 |
Top |
Gene isoform structures and expression levels for ARV1 |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for ARV1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_19289 | 1 | 231114891:231115025:231124065:231124185:231125855:231126009 | 231124065:231124185 | ENSG00000173409.9 | ENST00000435927.1,ENST00000310256.2,ENST00000450711.1 |
| exon_skip_19293 | 1 | 231114891:231115025:231125855:231126009:231131505:231131730 | 231125855:231126009 | ENSG00000173409.9 | ENST00000366658.2 |
| exon_skip_19304 | 1 | 231124065:231124185:231125855:231126009:231131505:231131730 | 231125855:231126009 | ENSG00000173409.9 | ENST00000480519.1,ENST00000497753.1,ENST00000310256.2,ENST00000450711.1 |
| exon_skip_19313 | 1 | 231125895:231126009:231126345:231126444:231131505:231131730 | 231126345:231126444 | ENSG00000173409.9 | ENST00000435927.1 |
| exon_skip_19314 | 1 | 231125895:231126009:231131505:231131730:231132866:231132900 | 231131505:231131730 | ENSG00000173409.9 | ENST00000366658.2,ENST00000480519.1,ENST00000497753.1,ENST00000310256.2,ENST00000450711.1 |
| exon_skip_19319 | 1 | 231131505:231131730:231132866:231133013:231135883:231136341 | 231132866:231133013 | ENSG00000173409.9 | ENST00000366658.2,ENST00000310256.2 |
| exon_skip_19321 | 1 | 231132866:231133013:231135368:231135547:231135883:231136341 | 231135368:231135547 | ENSG00000173409.9 | ENST00000459891.1 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for ARV1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_19289 | 1 | 231114891:231115025:231124065:231124185:231125855:231126009 | 231124065:231124185 | ENSG00000173409.9 | ENST00000310256.2,ENST00000450711.1,ENST00000435927.1 |
| exon_skip_19293 | 1 | 231114891:231115025:231125855:231126009:231131505:231131730 | 231125855:231126009 | ENSG00000173409.9 | ENST00000366658.2 |
| exon_skip_19304 | 1 | 231124065:231124185:231125855:231126009:231131505:231131730 | 231125855:231126009 | ENSG00000173409.9 | ENST00000497753.1,ENST00000310256.2,ENST00000480519.1,ENST00000450711.1 |
| exon_skip_19313 | 1 | 231125895:231126009:231126345:231126444:231131505:231131730 | 231126345:231126444 | ENSG00000173409.9 | ENST00000435927.1 |
| exon_skip_19314 | 1 | 231125895:231126009:231131505:231131730:231132866:231132900 | 231131505:231131730 | ENSG00000173409.9 | ENST00000497753.1,ENST00000310256.2,ENST00000366658.2,ENST00000480519.1,ENST00000450711.1 |
| exon_skip_19319 | 1 | 231131505:231131730:231132866:231133013:231135883:231136341 | 231132866:231133013 | ENSG00000173409.9 | ENST00000310256.2,ENST00000366658.2 |
| exon_skip_19321 | 1 | 231132866:231133013:231135368:231135547:231135883:231136341 | 231135368:231135547 | ENSG00000173409.9 | ENST00000459891.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for ARV1 |
| 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 |
| ENST00000310256 | 231132866 | 231133013 | 3UTR-3CDS |
| ENST00000310256 | 231125855 | 231126009 | Frame-shift |
| ENST00000310256 | 231124065 | 231124185 | In-frame |
| ENST00000310256 | 231131505 | 231131730 | 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 |
| ENST00000310256 | 231132866 | 231133013 | 3UTR-3CDS |
| ENST00000310256 | 231125855 | 231126009 | Frame-shift |
| ENST00000310256 | 231124065 | 231124185 | In-frame |
| ENST00000310256 | 231131505 | 231131730 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for ARV1 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000310256 | 1352 | 271 | 231124065 | 231124185 | 232 | 351 | 58 | 98 |
| ENST00000310256 | 1352 | 271 | 231131505 | 231131730 | 506 | 730 | 149 | 224 |
| 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 |
| ENST00000310256 | 1352 | 271 | 231124065 | 231124185 | 232 | 351 | 58 | 98 |
| ENST00000310256 | 1352 | 271 | 231131505 | 231131730 | 506 | 730 | 149 | 224 |
| 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 |
Top |
SNVs in the skipped exons for ARV1 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| ACC | TCGA-OR-A5LJ-01 | exon_skip_19314 | 231131506 | 231131730 | 231131567 | 231131567 | Frame_Shift_Del | A | - | p.A170fs |
| ACC | TCGA-PK-A5HB-01 | exon_skip_19314 | 231131506 | 231131730 | 231131567 | 231131567 | Frame_Shift_Del | A | - | p.A170fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_19314 | 231131506 | 231131730 | 231131567 | 231131567 | Frame_Shift_Del | A | - | p.A170fs |
| ESCA | TCGA-L5-A8NM-01 | exon_skip_19314 | 231131506 | 231131730 | 231131567 | 231131567 | Frame_Shift_Del | A | - | p.K173fs |
| PAAD | TCGA-HV-A5A5-01 | exon_skip_19314 | 231131506 | 231131730 | 231131567 | 231131567 | Frame_Shift_Del | A | - | p.A170fs |
| PAAD | TCGA-HZ-A4BH-01 | exon_skip_19314 | 231131506 | 231131730 | 231131567 | 231131567 | Frame_Shift_Del | A | - | p.A170fs |
| SKCM | TCGA-D3-A51G-06 | exon_skip_19314 | 231131506 | 231131730 | 231131567 | 231131567 | Frame_Shift_Del | A | - | p.A170fs |
| SKCM | TCGA-D3-A8GP-06 | exon_skip_19314 | 231131506 | 231131730 | 231131567 | 231131567 | Frame_Shift_Del | A | - | p.A170fs |
| SKCM | TCGA-FR-A8YC-06 | exon_skip_19314 | 231131506 | 231131730 | 231131567 | 231131567 | Frame_Shift_Del | A | - | p.A170fs |
| STAD | TCGA-BR-4184-01 | exon_skip_19314 | 231131506 | 231131730 | 231131567 | 231131568 | Frame_Shift_Del | AA | - | p.170_170del |
| STAD | TCGA-BR-8361-01 | exon_skip_19314 | 231131506 | 231131730 | 231131567 | 231131568 | Frame_Shift_Del | AA | - | p.170_170del |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_19314 | 231131506 | 231131730 | 231131567 | 231131567 | Frame_Shift_Del | A | - | p.A170fs |
| BRCA | TCGA-D8-A27K-01 | exon_skip_19314 | 231131506 | 231131730 | 231131566 | 231131567 | Frame_Shift_Ins | - | A | p.K174fs |
| KIRC | TCGA-A3-3372-01 | exon_skip_19314 | 231131506 | 231131730 | 231131566 | 231131567 | Frame_Shift_Ins | - | A | p.E170fs |
| LUAD | TCGA-99-8032-01 | exon_skip_19314 | 231131506 | 231131730 | 231131630 | 231131631 | Frame_Shift_Ins | - | T | p.A192fs |
| ESCA | TCGA-LN-A7HX-01 | exon_skip_19289 | 231124066 | 231124185 | 231124099 | 231124099 | Nonsense_Mutation | G | T | p.E70* |
| ESCA | TCGA-LN-A7HX-01 | exon_skip_19289 | 231124066 | 231124185 | 231124099 | 231124099 | Nonsense_Mutation | G | T | p.E70X |
| LGG | TCGA-DU-6392-01 | exon_skip_19293 exon_skip_19304 | 231125856 | 231126009 | 231125862 | 231125862 | Nonsense_Mutation | G | T | p.G101* |
| STAD | TCGA-CD-A4MJ-01 | exon_skip_19293 exon_skip_19304 | 231125856 | 231126009 | 231126011 | 231126011 | Splice_Site | T | C | p.E150_splice |
| - 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 | 231131506 | 231131730 | 231131566 | 231131567 | Frame_Shift_Ins | - | AA | p.AK170fs |
| CL34_LARGE_INTESTINE | 231124066 | 231124185 | 231124099 | 231124099 | Missense_Mutation | G | A | p.E70K |
| SNU283_LARGE_INTESTINE | 231124066 | 231124185 | 231124165 | 231124165 | Missense_Mutation | C | A | p.L92I |
| NCIH1435_LUNG | 231124066 | 231124185 | 231124175 | 231124175 | Missense_Mutation | C | A | p.T95N |
| HCT15_LARGE_INTESTINE | 231125856 | 231126009 | 231125899 | 231125899 | Missense_Mutation | A | G | p.Y113C |
| GP2D_LARGE_INTESTINE | 231131506 | 231131730 | 231131527 | 231131527 | Missense_Mutation | G | A | p.G157D |
| EN_ENDOMETRIUM | 231131506 | 231131730 | 231131601 | 231131601 | Missense_Mutation | G | A | p.A182T |
| BT483_BREAST | 231131506 | 231131730 | 231131649 | 231131649 | Missense_Mutation | A | T | p.I198F |
| TK10_KIDNEY | 231132867 | 231133013 | 231132890 | 231132890 | Missense_Mutation | C | T | p.L233F |
| RH28_SOFT_TISSUE | 231132867 | 231133013 | 231132905 | 231132905 | Missense_Mutation | G | A | p.V238M |
| HEC108_ENDOMETRIUM | 231132867 | 231133013 | 231132960 | 231132960 | Missense_Mutation | A | G | p.E256G |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARV1 |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARV1 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARV1 |
Top |
RelatedDrugs for ARV1 |
| 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 |
Top |
RelatedDiseases for ARV1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|