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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 RCN1 |
 Gene summary |
| Gene information | Gene symbol | RCN1 | Gene ID | 5954 |
| Gene name | reticulocalbin 1 | |
| Synonyms | HEL-S-84|PIG20|RCAL|RCN | |
| Cytomap | 11p13 | |
| Type of gene | protein-coding | |
| Description | reticulocalbin-1epididymis secretory protein Li 84proliferation-inducing gene 20reticulocalbin 1, EF-hand calcium binding domain | |
| Modification date | 20180523 | |
| UniProtAcc | Q15293 | |
| Context | PubMed: RCN1 [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 RCN1 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 RCN1 |
| 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 RCN1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_57588 | 11 | 32112449:32112996:32118689:32118883:32119895:32120004 | 32118689:32118883 | ENSG00000049449.4 | ENST00000054950.3 |
| exon_skip_57592 | 11 | 32118689:32118883:32119895:32120074:32122093:32122140 | 32119895:32120074 | ENSG00000049449.4 | ENST00000533898.1,ENST00000532942.1,ENST00000530348.1,ENST00000054950.3 |
| exon_skip_57593 | 11 | 32119895:32120074:32122093:32122154:32124826:32125026 | 32122093:32122154 | ENSG00000049449.4 | ENST00000533898.1,ENST00000532942.1,ENST00000054950.3 |
| exon_skip_57594 | 11 | 32122093:32122154:32124549:32124704:32124826:32125026 | 32124549:32124704 | ENSG00000049449.4 | ENST00000527337.1 |
| exon_skip_57595 | 11 | 32122093:32122154:32124549:32124748:32124826:32125026 | 32124549:32124748 | ENSG00000049449.4 | ENST00000532474.1 |
| exon_skip_57596 | 11 | 32122093:32122154:32124826:32125026:32125910:32126148 | 32124826:32125026 | ENSG00000049449.4 | ENST00000533898.1,ENST00000532942.1,ENST00000054950.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RCN1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_57588 | 11 | 32112449:32112996:32118689:32118883:32119895:32120004 | 32118689:32118883 | ENSG00000049449.4 | ENST00000054950.3 |
| exon_skip_57593 | 11 | 32119895:32120074:32122093:32122154:32124826:32125026 | 32122093:32122154 | ENSG00000049449.4 | ENST00000532942.1,ENST00000054950.3,ENST00000533898.1 |
| exon_skip_57594 | 11 | 32122093:32122154:32124549:32124704:32124826:32125026 | 32124549:32124704 | ENSG00000049449.4 | ENST00000527337.1 |
| exon_skip_57595 | 11 | 32122093:32122154:32124549:32124748:32124826:32125026 | 32124549:32124748 | ENSG00000049449.4 | ENST00000532474.1 |
| exon_skip_57596 | 11 | 32122093:32122154:32124826:32125026:32125910:32126148 | 32124826:32125026 | ENSG00000049449.4 | ENST00000532942.1,ENST00000054950.3,ENST00000533898.1 |
| 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 RCN1 |
| 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 |
| ENST00000054950 | 32118689 | 32118883 | Frame-shift |
| ENST00000054950 | 32119895 | 32120074 | Frame-shift |
| ENST00000054950 | 32122093 | 32122154 | Frame-shift |
| ENST00000054950 | 32124826 | 32125026 | 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 |
| ENST00000054950 | 32118689 | 32118883 | Frame-shift |
| ENST00000054950 | 32122093 | 32122154 | Frame-shift |
| ENST00000054950 | 32124826 | 32125026 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RCN1 |
| 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 RCN1 |
| - 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_57588 | 32118690 | 32118883 | 32118727 | 32118727 | Frame_Shift_Del | T | - | p.F98fs |
| KICH | TCGA-KL-8343-01 | exon_skip_57588 | 32118690 | 32118883 | 32118784 | 32118784 | Frame_Shift_Del | T | - | p.F117fs |
| KICH | TCGA-KL-8343-01 | exon_skip_57588 | 32118690 | 32118883 | 32118784 | 32118784 | Frame_Shift_Del | T | - | p.I116fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_57592 | 32119896 | 32120074 | 32119940 | 32119940 | Frame_Shift_Del | A | - | p.K166fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_57593 | 32122094 | 32122154 | 32122098 | 32122098 | Frame_Shift_Del | C | - | p.T211fs |
| STAD | TCGA-D7-A4YT-01 | exon_skip_57596 | 32124827 | 32125026 | 32124954 | 32124972 | Frame_Shift_Del | GATCCTCCCTCAAGATTAT | - | p.272_278del |
| STAD | TCGA-D7-A4YT-01 | exon_skip_57596 | 32124827 | 32125026 | 32124954 | 32124972 | Frame_Shift_Del | GATCCTCCCTCAAGATTAT | - | p.W272fs |
| UCEC | TCGA-BS-A0UF-01 | exon_skip_57588 | 32118690 | 32118883 | 32118703 | 32118703 | Nonsense_Mutation | C | T | p.R90* |
| - 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 |
| TALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32118690 | 32118883 | 32118835 | 32118835 | Frame_Shift_Del | A | - | p.K134fs |
| LS411N_LARGE_INTESTINE | 32124827 | 32125026 | 32124844 | 32124846 | In_Frame_Del | GAG | - | p.E237del |
| GP5D_LARGE_INTESTINE | 32118690 | 32118883 | 32118695 | 32118695 | Missense_Mutation | T | C | p.I87T |
| DOV13_OVARY | 32118690 | 32118883 | 32118779 | 32118779 | Missense_Mutation | A | G | p.Y115C |
| SNU81_LARGE_INTESTINE | 32118690 | 32118883 | 32118840 | 32118840 | Missense_Mutation | T | G | p.I135M |
| HEC251_ENDOMETRIUM | 32119896 | 32120074 | 32119920 | 32119920 | Missense_Mutation | C | A | p.S158Y |
| SW1116_LARGE_INTESTINE | 32119896 | 32120074 | 32120024 | 32120024 | Missense_Mutation | G | T | p.A193S |
| CAL12T_LUNG | 32124827 | 32125026 | 32124922 | 32124922 | Missense_Mutation | G | T | p.G262W |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 32124827 | 32125026 | 32124946 | 32124946 | Missense_Mutation | C | T | p.R270C |
| RCCMF_KIDNEY | 32124827 | 32125026 | 32124977 | 32124977 | Missense_Mutation | A | G | p.H280R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RCN1 |
| 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_57594 | 11 | 32122093:32122154:32124549:32124704:32124826:32125026 | 32124549:32124704 | ENST00000527337.1 | BLCA | rs223059 | chr11:32124685 | G/A | 1.06e-03 |
| exon_skip_57595 | 11 | 32122093:32122154:32124549:32124748:32124826:32125026 | 32124549:32124748 | ENST00000532474.1 | BLCA | rs223059 | chr11:32124685 | G/A | 1.06e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RCN1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RCN1 |
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RelatedDrugs for RCN1 |
| 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 RCN1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RCN1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| RCN1 | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human |
| RCN1 | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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