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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 ARMC1 |
 Gene summary |
| Gene information | Gene symbol | ARMC1 | Gene ID | 55156 |
| Gene name | armadillo repeat containing 1 | |
| Synonyms | Arcp | |
| Cytomap | 8q13.1 | |
| Type of gene | protein-coding | |
| Description | armadillo repeat-containing protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | Q9NVT9 | |
| Context | PubMed: ARMC1 [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 ARMC1 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 ARMC1 |
| 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 ARMC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490068 | 8 | 66517497:66517572:66517656:66517773:66525478:66525668 | 66517656:66517773 | ENSG00000104442.5 | ENST00000276569.3 |
| exon_skip_490069 | 8 | 66517667:66517773:66525478:66525668:66534497:66534589 | 66525478:66525668 | ENSG00000104442.5 | ENST00000276569.3,ENST00000518908.1 |
| exon_skip_490070 | 8 | 66525572:66525668:66534497:66534589:66539450:66539668 | 66534497:66534589 | ENSG00000104442.5 | ENST00000276569.3,ENST00000518908.1,ENST00000519352.1 |
| exon_skip_490072 | 8 | 66525572:66525668:66539450:66539668:66546232:66546406 | 66539450:66539668 | ENSG00000104442.5 | ENST00000523384.1 |
| exon_skip_490073 | 8 | 66534497:66534589:66539450:66539668:66546232:66546406 | 66539450:66539668 | ENSG00000104442.5 | ENST00000528721.1,ENST00000458464.2 |
| exon_skip_490074 | 8 | 66539450:66539668:66545132:66545232:66546232:66546406 | 66545132:66545232 | ENSG00000104442.5 | ENST00000519352.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ARMC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490068 | 8 | 66517497:66517572:66517656:66517773:66525478:66525668 | 66517656:66517773 | ENSG00000104442.5 | ENST00000276569.3 |
| exon_skip_490069 | 8 | 66517667:66517773:66525478:66525668:66534497:66534589 | 66525478:66525668 | ENSG00000104442.5 | ENST00000276569.3,ENST00000518908.1 |
| exon_skip_490070 | 8 | 66525572:66525668:66534497:66534589:66539450:66539668 | 66534497:66534589 | ENSG00000104442.5 | ENST00000276569.3,ENST00000518908.1,ENST00000519352.1 |
| exon_skip_490072 | 8 | 66525572:66525668:66539450:66539668:66546232:66546406 | 66539450:66539668 | ENSG00000104442.5 | ENST00000523384.1 |
| exon_skip_490073 | 8 | 66534497:66534589:66539450:66539668:66546232:66546406 | 66539450:66539668 | ENSG00000104442.5 | ENST00000528721.1,ENST00000458464.2 |
| exon_skip_490074 | 8 | 66539450:66539668:66545132:66545232:66546232:66546406 | 66545132:66545232 | ENSG00000104442.5 | ENST00000519352.1 |
| 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 ARMC1 |
| 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 |
| ENST00000276569 | 66525478 | 66525668 | Frame-shift |
| ENST00000276569 | 66534497 | 66534589 | Frame-shift |
| ENST00000276569 | 66517656 | 66517773 | 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 |
| ENST00000276569 | 66525478 | 66525668 | Frame-shift |
| ENST00000276569 | 66534497 | 66534589 | Frame-shift |
| ENST00000276569 | 66517656 | 66517773 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ARMC1 |
| 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 |
| ENST00000276569 | 3046 | 282 | 66517656 | 66517773 | 711 | 827 | 155 | 194 |
| 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 |
| ENST00000276569 | 3046 | 282 | 66517656 | 66517773 | 711 | 827 | 155 | 194 |
| 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 |
| Q9NVT9 | 155 | 194 | 54 | 155 | Alternative sequence | ID=VSP_054646;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NVT9 | 155 | 194 | 1 | 282 | Chain | ID=PRO_0000240882;Note=Armadillo repeat-containing protein 1 |
| Q9NVT9 | 155 | 194 | 189 | 189 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| 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 |
| Q9NVT9 | 155 | 194 | 54 | 155 | Alternative sequence | ID=VSP_054646;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039 |
| Q9NVT9 | 155 | 194 | 1 | 282 | Chain | ID=PRO_0000240882;Note=Armadillo repeat-containing protein 1 |
| Q9NVT9 | 155 | 194 | 189 | 189 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
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SNVs in the skipped exons for ARMC1 |
| - 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-A3A0-01 | exon_skip_490068 | 66517657 | 66517773 | 66517737 | 66517737 | Frame_Shift_Del | T | - | p.I168fs |
| BRCA | TCGA-D8-A1JK-01 | exon_skip_490069 | 66525479 | 66525668 | 66525619 | 66525620 | Frame_Shift_Del | TG | - | p.I109fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_490070 | 66534498 | 66534589 | 66534510 | 66534510 | Frame_Shift_Del | T | - | p.N88fs |
| SKCM | TCGA-EE-A29M-06 | exon_skip_490068 | 66517657 | 66517773 | 66517710 | 66517710 | Nonsense_Mutation | G | A | p.Q177* |
| SKCM | TCGA-EE-A29M-06 | exon_skip_490068 | 66517657 | 66517773 | 66517710 | 66517710 | Nonsense_Mutation | G | A | p.Q177X |
| UCS | TCGA-N8-A4PO-01 | exon_skip_490069 | 66525479 | 66525668 | 66525567 | 66525567 | Nonsense_Mutation | G | T | p.S126* |
| UCS | TCGA-N8-A4PO-01 | exon_skip_490069 | 66525479 | 66525668 | 66525567 | 66525567 | Nonsense_Mutation | G | T | p.S126X |
| SKCM | TCGA-EE-A2MR-06 | exon_skip_490070 | 66534498 | 66534589 | 66534583 | 66534583 | Nonsense_Mutation | G | A | p.R64* |
| SKCM | TCGA-DA-A1HV-06 | exon_skip_490073 exon_skip_490072 | 66539451 | 66539668 | 66539522 | 66539522 | Nonsense_Mutation | G | A | p.Q38* |
| SKCM | TCGA-DA-A1HV-06 | exon_skip_490073 exon_skip_490072 | 66539451 | 66539668 | 66539522 | 66539522 | Nonsense_Mutation | G | A | p.Q38X |
| LUAD | TCGA-05-4417-01 | exon_skip_490073 exon_skip_490072 | 66539451 | 66539668 | 66539450 | 66539450 | Splice_Site | C | A | p.L61_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 |
| CP67MEL_SKIN | 66525479 | 66525668 | 66525501 | 66525501 | Missense_Mutation | T | C | p.H148R |
| HEC251_ENDOMETRIUM | 66525479 | 66525668 | 66525561 | 66525561 | Missense_Mutation | C | T | p.R128Q |
| NCIH2722_PLEURA | 66525479 | 66525668 | 66525565 | 66525565 | Missense_Mutation | G | A | p.R127C |
| SNU1077_ENDOMETRIUM | 66525479 | 66525668 | 66525628 | 66525628 | Missense_Mutation | T | G | p.I106L |
| SKOV3_OVARY | 66525479 | 66525668 | 66525631 | 66525631 | Missense_Mutation | C | T | p.E105K |
| NCIH1688_LUNG | 66539451 | 66539668 | 66539504 | 66539504 | Missense_Mutation | G | C | p.L44V |
| SKMES1_LUNG | 66539451 | 66539668 | 66539575 | 66539575 | Missense_Mutation | T | A | p.Q20L |
| SNU1040_LARGE_INTESTINE | 66539451 | 66539668 | 66539594 | 66539594 | Missense_Mutation | C | T | p.A14T |
| JHUEM7_ENDOMETRIUM | 66539451 | 66539668 | 66539596 | 66539596 | Missense_Mutation | T | C | p.D13G |
| SKMG1_CENTRAL_NERVOUS_SYSTEM | 66539451 | 66539668 | 66539610 | 66539610 | Missense_Mutation | C | A | p.M8I |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 66539451 | 66539668 | 66539620 | 66539620 | Missense_Mutation | G | A | p.T5I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ARMC1 |
| 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_490069 | 8 | 66517667:66517773:66525478:66525668:66534497:66534589 | 66525478:66525668 | ENST00000276569.3,ENST00000518908.1 | BRCA | rs11559265 | chr8:66525548 | T/C | 6.05e-07 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARMC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ARMC1 |
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RelatedDrugs for ARMC1 |
| 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 ARMC1 |
| 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)
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