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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 CD2BP2 |
 Gene summary |
| Gene information | Gene symbol | CD2BP2 | Gene ID | 10421 |
| Gene name | CD2 cytoplasmic tail binding protein 2 | |
| Synonyms | FWP010|LIN1|PPP1R59|Snu40|U5-52K | |
| Cytomap | 16p11.2 | |
| Type of gene | protein-coding | |
| Description | CD2 antigen cytoplasmic tail-binding protein 2CD2 cytoplasmic domain-binding protein 2U5 snRNP 52K proteinprotein phosphatase 1, regulatory subunit 59 | |
| Modification date | 20180523 | |
| UniProtAcc | O95400 | |
| Context | PubMed: CD2BP2 [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 |
| CD2BP2 | GO:0010923 | negative regulation of phosphatase activity | 19389623 |
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Exon skipping events across known transcript of Ensembl for CD2BP2 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 CD2BP2 |
| 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 CD2BP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_143864 | 16 | 30364167:30364416:30364501:30364608:30364688:30365121 | 30364501:30364608 | ENSG00000169217.4 | ENST00000569466.1,ENST00000305596.3 |
| exon_skip_143866 | 16 | 30365221:30365379:30365504:30365643:30365924:30366028 | 30365504:30365643 | ENSG00000169217.4 | ENST00000569466.1,ENST00000305596.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CD2BP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_143864 | 16 | 30364167:30364416:30364501:30364608:30364688:30365121 | 30364501:30364608 | ENSG00000169217.4 | ENST00000305596.3,ENST00000569466.1 |
| exon_skip_143866 | 16 | 30365221:30365379:30365504:30365643:30365924:30366028 | 30365504:30365643 | ENSG00000169217.4 | ENST00000305596.3,ENST00000569466.1 |
| 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 CD2BP2 |
| 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 |
| ENST00000305596 | 30364501 | 30364608 | Frame-shift |
| ENST00000569466 | 30364501 | 30364608 | Frame-shift |
| ENST00000305596 | 30365504 | 30365643 | Frame-shift |
| ENST00000569466 | 30365504 | 30365643 | 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 |
| ENST00000305596 | 30364501 | 30364608 | Frame-shift |
| ENST00000569466 | 30364501 | 30364608 | Frame-shift |
| ENST00000305596 | 30365504 | 30365643 | Frame-shift |
| ENST00000569466 | 30365504 | 30365643 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for CD2BP2 |
| 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 CD2BP2 |
| - 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-A39Y-01 | exon_skip_143866 | 30365505 | 30365643 | 30365545 | 30365545 | Frame_Shift_Del | C | - | p.G59fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_143866 | 30365505 | 30365643 | 30365545 | 30365545 | Frame_Shift_Del | C | - | p.G59fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_143866 | 30365505 | 30365643 | 30365545 | 30365545 | Frame_Shift_Del | C | - | p.G59fs |
| BRCA | TCGA-B6-A0IQ-01 | exon_skip_143866 | 30365505 | 30365643 | 30365584 | 30365585 | Frame_Shift_Del | AG | - | p.S46fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_143866 | 30365505 | 30365643 | 30365596 | 30365596 | Frame_Shift_Del | T | - | p.K42fs |
| - 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 |
| SNU1272_KIDNEY | 30365505 | 30365643 | 30365567 | 30365567 | Frame_Shift_Del | T | - | p.E53fs |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30364502 | 30364608 | 30364548 | 30364548 | Missense_Mutation | G | A | p.T290M |
| NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30365505 | 30365643 | 30365543 | 30365543 | Missense_Mutation | G | A | p.S60F |
| SNGM_ENDOMETRIUM | 30365505 | 30365643 | 30365549 | 30365549 | Missense_Mutation | C | T | p.G58E |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30365505 | 30365643 | 30365631 | 30365631 | Missense_Mutation | C | T | p.V31M |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30364502 | 30364608 | 30364510 | 30364510 | Nonsense_Mutation | G | A | p.Q303* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CD2BP2 |
| 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 CD2BP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CD2BP2 |
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RelatedDrugs for CD2BP2 |
| 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 CD2BP2 |
| 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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