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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 BCCIP |
 Gene summary |
| Gene information | Gene symbol | BCCIP | Gene ID | 56647 |
| Gene name | BRCA2 and CDKN1A interacting protein | |
| Synonyms | TOK-1|TOK1 | |
| Cytomap | 10q26.2 | |
| Type of gene | protein-coding | |
| Description | BRCA2 and CDKN1A-interacting proteinBCCIPalphaBCCIPbetaBRCA2 and Cip1/p21 interacting proteinTOK-1alphaTOK-1betacdk inhibitor p21 binding proteinp21- and CDK-associated protein 1protein TOK-1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9P287 | |
| Context | PubMed: BCCIP [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 |
| BCCIP | GO:0000079 | regulation of cyclin-dependent protein serine/threonine kinase activity | 10878006 |
| BCCIP | GO:0061101 | neuroendocrine cell differentiation | 18440304 |
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Exon skipping events across known transcript of Ensembl for BCCIP 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 BCCIP |
| 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 BCCIP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45927 | 10 | 127512178:127512291:127515159:127515234:127516126:127516207 | 127515159:127515234 | ENSG00000107949.12 | ENST00000429863.2,ENST00000368759.5,ENST00000299130.3,ENST00000463330.1 |
| exon_skip_45928 | 10 | 127516126:127516207:127519130:127519220:127519988:127520106 | 127519130:127519220 | ENSG00000107949.12 | ENST00000478798.1,ENST00000368759.5,ENST00000299130.3,ENST00000278100.6 |
| exon_skip_45929 | 10 | 127516126:127516207:127519988:127520176:127522340:127522515 | 127519988:127520176 | ENSG00000107949.12 | ENST00000429863.2 |
| exon_skip_45931 | 10 | 127519988:127520176:127522340:127522515:127524672:127525122 | 127522340:127522515 | ENSG00000107949.12 | ENST00000278100.6 |
| exon_skip_45933 | 10 | 127519988:127520176:127522340:127522515:127529823:127529899 | 127522340:127522515 | ENSG00000107949.12 | ENST00000429863.2,ENST00000368759.5,ENST00000299130.3 |
| exon_skip_45937 | 10 | 127522340:127522515:127529823:127529899:127541693:127542264 | 127529823:127529899 | ENSG00000107949.12 | ENST00000368759.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for BCCIP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45927 | 10 | 127512178:127512291:127515159:127515234:127516126:127516207 | 127515159:127515234 | ENSG00000107949.12 | ENST00000299130.3,ENST00000368759.5,ENST00000429863.2,ENST00000463330.1 |
| exon_skip_45928 | 10 | 127516126:127516207:127519130:127519220:127519988:127520106 | 127519130:127519220 | ENSG00000107949.12 | ENST00000278100.6,ENST00000299130.3,ENST00000368759.5,ENST00000478798.1 |
| exon_skip_45929 | 10 | 127516126:127516207:127519988:127520176:127522340:127522515 | 127519988:127520176 | ENSG00000107949.12 | ENST00000429863.2 |
| exon_skip_45931 | 10 | 127519988:127520176:127522340:127522515:127524672:127525122 | 127522340:127522515 | ENSG00000107949.12 | ENST00000278100.6 |
| exon_skip_45933 | 10 | 127519988:127520176:127522340:127522515:127529823:127529899 | 127522340:127522515 | ENSG00000107949.12 | ENST00000299130.3,ENST00000368759.5,ENST00000429863.2 |
| exon_skip_45937 | 10 | 127522340:127522515:127529823:127529899:127541693:127542264 | 127529823:127529899 | ENSG00000107949.12 | ENST00000368759.5 |
| 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 BCCIP |
| 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 |
| ENST00000278100 | 127522340 | 127522515 | Frame-shift |
| ENST00000278100 | 127519130 | 127519220 | 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 |
| ENST00000278100 | 127522340 | 127522515 | Frame-shift |
| ENST00000278100 | 127519130 | 127519220 | In-frame |
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Infer the effects of exon skipping event on protein functional features for BCCIP |
| 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 |
| ENST00000278100 | 1253 | 314 | 127519130 | 127519220 | 334 | 423 | 107 | 137 |
| 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 |
| ENST00000278100 | 1253 | 314 | 127519130 | 127519220 | 334 | 423 | 107 | 137 |
| 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 |
| Q9P287 | 107 | 137 | 1 | 314 | Chain | ID=PRO_0000249687;Note=BRCA2 and CDKN1A-interacting protein |
| Q9P287 | 107 | 137 | 112 | 112 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q9P287 | 107 | 137 | 59 | 167 | Region | Note=Interaction with BRCA2 |
| 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 |
| Q9P287 | 107 | 137 | 1 | 314 | Chain | ID=PRO_0000249687;Note=BRCA2 and CDKN1A-interacting protein |
| Q9P287 | 107 | 137 | 112 | 112 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
| Q9P287 | 107 | 137 | 59 | 167 | Region | Note=Interaction with BRCA2 |
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SNVs in the skipped exons for BCCIP |
| - 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-A1EG-01 | exon_skip_45929 | 127519989 | 127520176 | 127520050 | 127520050 | Frame_Shift_Del | A | - | p.E158fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_45929 | 127519989 | 127520176 | 127520079 | 127520079 | Frame_Shift_Del | T | - | p.F168fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_45933 exon_skip_45931 | 127522341 | 127522515 | 127522462 | 127522462 | Frame_Shift_Del | A | - | p.K243fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_45933 exon_skip_45931 | 127522341 | 127522515 | 127522504 | 127522504 | Frame_Shift_Del | T | - | p.F256fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_45933 exon_skip_45931 | 127522341 | 127522515 | 127522504 | 127522504 | Frame_Shift_Del | T | - | p.F256fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_45933 exon_skip_45931 | 127522341 | 127522515 | 127522504 | 127522504 | Frame_Shift_Del | T | - | p.F256fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_45928 | 127519131 | 127519220 | 127519170 | 127519170 | Nonsense_Mutation | G | T | p.E121* |
| SKCM | TCGA-ER-A19F-06 | exon_skip_45929 | 127519989 | 127520176 | 127520013 | 127520013 | Nonsense_Mutation | C | T | p.Q146* |
| SKCM | TCGA-ER-A19F-06 | exon_skip_45929 | 127519989 | 127520176 | 127520013 | 127520013 | Nonsense_Mutation | C | T | p.Q146X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_45933 exon_skip_45931 | 127522341 | 127522515 | 127522501 | 127522501 | Nonsense_Mutation | G | T | p.E254* |
| - 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 |
| HARA_LUNG | 127519989 | 127520176 | 127520013 | 127520013 | Missense_Mutation | C | G | p.Q146E |
| BEN_LUNG | 127519989 | 127520176 | 127520037 | 127520037 | Missense_Mutation | G | A | p.E154K |
| HT115_LARGE_INTESTINE | 127519989 | 127520176 | 127520042 | 127520042 | Missense_Mutation | G | T | p.K155N |
| ESS1_ENDOMETRIUM | 127519989 | 127520176 | 127520151 | 127520151 | Missense_Mutation | G | A | p.A192T |
| LOVO_LARGE_INTESTINE | 127522341 | 127522515 | 127522387 | 127522387 | Missense_Mutation | T | C | p.C216R |
| SKGIIIA_CERVIX | 127522341 | 127522515 | 127522396 | 127522396 | Missense_Mutation | T | C | p.Y219H |
| NCIH841_LUNG | 127522341 | 127522515 | 127522452 | 127522452 | Missense_Mutation | A | T | p.K237N |
| EPLC272H_LUNG | 127522341 | 127522515 | 127522467 | 127522467 | Missense_Mutation | G | T | p.K242N |
| LS411N_LARGE_INTESTINE | 127522341 | 127522515 | 127522508 | 127522508 | Missense_Mutation | T | C | p.F256S |
| HCC2218_BREAST | 127515160 | 127515234 | 127515178 | 127515178 | Nonsense_Mutation | G | T | p.E62* |
| MEWO_SKIN | 127519989 | 127520176 | 127520013 | 127520013 | Nonsense_Mutation | C | T | p.Q146* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BCCIP |
| 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 BCCIP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BCCIP |
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RelatedDrugs for BCCIP |
| 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 BCCIP |
| 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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