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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 RB1CC1 |
 Gene summary |
| Gene information | Gene symbol | RB1CC1 | Gene ID | 9821 |
| Gene name | RB1 inducible coiled-coil 1 | |
| Synonyms | ATG17|CC1|FIP200|PPP1R131 | |
| Cytomap | 8q11.23 | |
| Type of gene | protein-coding | |
| Description | RB1-inducible coiled-coil protein 1200 kDa FAK family kinase-interacting proteinFAK family kinase-interacting protein of 200 kDaphosphatase 1, regulatory subunit 131 | |
| Modification date | 20180527 | |
| UniProtAcc | Q8TDY2 | |
| Context | PubMed: RB1CC1 [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 RB1CC1 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 RB1CC1 |
| 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 RB1CC1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489665 | 8 | 53540600:53540728:53543029:53543088:53547480:53547528 | 53543029:53543088 | ENSG00000023287.8 | ENST00000435644.2,ENST00000519912.1,ENST00000522957.1,ENST00000539297.1,ENST00000025008.5 |
| exon_skip_489669 | 8 | 53571432:53571536:53573155:53573217:53573485:53573567 | 53573155:53573217 | ENSG00000023287.8 | ENST00000435644.2,ENST00000539297.1,ENST00000025008.5 |
| exon_skip_489676 | 8 | 53596509:53596573:53597958:53598080:53599412:53599527 | 53597958:53598080 | ENSG00000023287.8 | ENST00000435644.2,ENST00000025008.5 |
| exon_skip_489678 | 8 | 53596509:53596573:53599412:53599527:53626634:53626983 | 53599412:53599527 | ENSG00000023287.8 | ENST00000518710.1 |
| exon_skip_489679 | 8 | 53597983:53598080:53598496:53598716:53599412:53599527 | 53598496:53598716 | ENSG00000023287.8 | ENST00000518211.1 |
| exon_skip_489680 | 8 | 53597983:53598080:53599412:53599527:53626634:53626983 | 53599412:53599527 | ENSG00000023287.8 | ENST00000435644.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RB1CC1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_489665 | 8 | 53540600:53540728:53543029:53543088:53547480:53547528 | 53543029:53543088 | ENSG00000023287.8 | ENST00000025008.5,ENST00000435644.2,ENST00000519912.1,ENST00000522957.1,ENST00000539297.1 |
| exon_skip_489669 | 8 | 53571432:53571536:53573155:53573217:53573485:53573567 | 53573155:53573217 | ENSG00000023287.8 | ENST00000025008.5,ENST00000435644.2,ENST00000539297.1 |
| exon_skip_489671 | 8 | 53586404:53586834:53588928:53589131:53596108:53596279 | 53588928:53589131 | ENSG00000023287.8 | ENST00000025008.5,ENST00000435644.2,ENST00000539297.1 |
| exon_skip_489676 | 8 | 53596509:53596573:53597958:53598080:53599412:53599527 | 53597958:53598080 | ENSG00000023287.8 | ENST00000025008.5,ENST00000435644.2 |
| exon_skip_489678 | 8 | 53596509:53596573:53599412:53599527:53626634:53626983 | 53599412:53599527 | ENSG00000023287.8 | ENST00000518710.1 |
| exon_skip_489679 | 8 | 53597983:53598080:53598496:53598716:53599412:53599527 | 53598496:53598716 | ENSG00000023287.8 | ENST00000518211.1 |
| exon_skip_489680 | 8 | 53597983:53598080:53599412:53599527:53626634:53626983 | 53599412:53599527 | ENSG00000023287.8 | ENST00000435644.2 |
| 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 RB1CC1 |
| 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 |
| ENST00000025008 | 53597958 | 53598080 | 3UTR-3CDS |
| ENST00000025008 | 53543029 | 53543088 | Frame-shift |
| ENST00000025008 | 53573155 | 53573217 | 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 |
| ENST00000025008 | 53597958 | 53598080 | 3UTR-3CDS |
| ENST00000025008 | 53543029 | 53543088 | Frame-shift |
| ENST00000025008 | 53573155 | 53573217 | Frame-shift |
| ENST00000025008 | 53588928 | 53589131 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for RB1CC1 |
| 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 RB1CC1 |
| - 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_489669 | 53573156 | 53573217 | 53573166 | 53573166 | Frame_Shift_Del | G | - | p.P560fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_489669 | 53573156 | 53573217 | 53573205 | 53573205 | Frame_Shift_Del | A | - | p.L547fs |
| STAD | TCGA-HU-A4H8-01 | exon_skip_489669 | 53573156 | 53573217 | 53573204 | 53573205 | Frame_Shift_Ins | - | A | p.L547fs |
| STAD | TCGA-HU-A4H8-01 | exon_skip_489669 | 53573156 | 53573217 | 53573205 | 53573206 | Frame_Shift_Ins | - | A | p.L547fs |
| READ | TCGA-DC-6157-01 | exon_skip_489676 | 53597959 | 53598080 | 53598018 | 53598018 | Nonsense_Mutation | A | T | p.Y4X |
| LIHC | TCGA-ZP-A9D4-01 | exon_skip_489669 | 53573156 | 53573217 | 53573155 | 53573155 | 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 53573156 | 53573217 | 53573187 | 53573187 | Missense_Mutation | C | T | p.R553K |
| EN_ENDOMETRIUM | 53573156 | 53573217 | 53573188 | 53573188 | Missense_Mutation | T | C | p.R553G |
| SISO_CERVIX | 53573156 | 53573217 | 53573196 | 53573196 | Missense_Mutation | C | T | p.R550H |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 53573156 | 53573217 | 53573196 | 53573196 | Missense_Mutation | C | T | p.R550H |
| JHUEM7_ENDOMETRIUM | 53573156 | 53573217 | 53573197 | 53573197 | Missense_Mutation | G | A | p.R550C |
| SARC9371_BONE | 53573156 | 53573217 | 53573197 | 53573197 | Missense_Mutation | G | A | p.R550C |
| DMS153_LUNG | 53597959 | 53598080 | 53598017 | 53598017 | Missense_Mutation | C | T | p.V5I |
| HEC108_ENDOMETRIUM | 53597959 | 53598080 | 53597960 | 53597960 | Splice_Site | T | C | p.T24A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RB1CC1 |
| 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 RB1CC1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RB1CC1 |
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RelatedDrugs for RB1CC1 |
| 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 RB1CC1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| RB1CC1 | C0036341 | Schizophrenia | 1 | CTD_human |
| RB1CC1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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