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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 ADAP2 |
 Gene summary |
| Gene information | Gene symbol | ADAP2 | Gene ID | 55803 |
| Gene name | ArfGAP with dual PH domains 2 | |
| Synonyms | CENTA2|HSA272195|cent-b | |
| Cytomap | 17q11.2 | |
| Type of gene | protein-coding | |
| Description | arf-GAP with dual PH domain-containing protein 2centaurin betacentaurin-alpha 2 protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NPF8 | |
| Context | PubMed: ADAP2 [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 ADAP2 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 ADAP2 |
| 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 ADAP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_150592 | 17 | 29248934:29249126:29249957:29250088:29258906:29258986 | 29249957:29250088 | ENSG00000184060.6 | ENST00000580526.1 |
| exon_skip_150593 | 17 | 29249957:29250088:29253826:29253936:29258906:29258986 | 29253826:29253936 | ENSG00000184060.6 | ENST00000580525.1 |
| exon_skip_150595 | 17 | 29249957:29250088:29253844:29253936:29258906:29258986 | 29253844:29253936 | ENSG00000184060.6 | ENST00000581285.1,ENST00000330889.3 |
| exon_skip_150596 | 17 | 29249957:29250088:29253844:29253936:29261202:29261315 | 29253844:29253936 | ENSG00000184060.6 | ENST00000585130.1 |
| exon_skip_150597 | 17 | 29249957:29250088:29258906:29258986:29261202:29261315 | 29258906:29258986 | ENSG00000184060.6 | ENST00000580526.1 |
| exon_skip_150600 | 17 | 29253844:29253936:29258906:29258986:29261202:29261315 | 29258906:29258986 | ENSG00000184060.6 | ENST00000580525.1,ENST00000581285.1,ENST00000330889.3 |
| exon_skip_150601 | 17 | 29261202:29261315:29271924:29272071:29276304:29276348 | 29271924:29272071 | ENSG00000184060.6 | ENST00000580525.1,ENST00000585130.1,ENST00000581548.1,ENST00000580526.1,ENST00000330889.3 |
| exon_skip_150602 | 17 | 29272059:29272071:29276304:29276388:29280305:29280368 | 29276304:29276388 | ENSG00000184060.6 | ENST00000580525.1,ENST00000584828.1,ENST00000585130.1,ENST00000330889.3 |
| exon_skip_150603 | 17 | 29276304:29276388:29280305:29280368:29281495:29281573 | 29280305:29280368 | ENSG00000184060.6 | ENST00000580525.1,ENST00000584828.1,ENST00000585130.1,ENST00000330889.3 |
| exon_skip_150607 | 17 | 29276304:29276388:29281495:29281573:29283258:29283380 | 29281495:29281573 | ENSG00000184060.6 | ENST00000584989.1 |
| exon_skip_150609 | 17 | 29280305:29280368:29281495:29281573:29283258:29283380 | 29281495:29281573 | ENSG00000184060.6 | ENST00000580525.1,ENST00000584828.1,ENST00000585130.1,ENST00000581285.1,ENST00000330889.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ADAP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_150592 | 17 | 29248934:29249126:29249957:29250088:29258906:29258986 | 29249957:29250088 | ENSG00000184060.6 | ENST00000580526.1 |
| exon_skip_150593 | 17 | 29249957:29250088:29253826:29253936:29258906:29258986 | 29253826:29253936 | ENSG00000184060.6 | ENST00000580525.1 |
| exon_skip_150595 | 17 | 29249957:29250088:29253844:29253936:29258906:29258986 | 29253844:29253936 | ENSG00000184060.6 | ENST00000330889.3,ENST00000581285.1 |
| exon_skip_150596 | 17 | 29249957:29250088:29253844:29253936:29261202:29261315 | 29253844:29253936 | ENSG00000184060.6 | ENST00000585130.1 |
| exon_skip_150597 | 17 | 29249957:29250088:29258906:29258986:29261202:29261315 | 29258906:29258986 | ENSG00000184060.6 | ENST00000580526.1 |
| exon_skip_150600 | 17 | 29253844:29253936:29258906:29258986:29261202:29261315 | 29258906:29258986 | ENSG00000184060.6 | ENST00000330889.3,ENST00000580525.1,ENST00000581285.1 |
| exon_skip_150601 | 17 | 29261202:29261315:29271924:29272071:29276304:29276348 | 29271924:29272071 | ENSG00000184060.6 | ENST00000585130.1,ENST00000330889.3,ENST00000581548.1,ENST00000580525.1,ENST00000580526.1 |
| exon_skip_150602 | 17 | 29272059:29272071:29276304:29276388:29280305:29280368 | 29276304:29276388 | ENSG00000184060.6 | ENST00000585130.1,ENST00000330889.3,ENST00000580525.1,ENST00000584828.1 |
| exon_skip_150603 | 17 | 29276304:29276388:29280305:29280368:29281495:29281573 | 29280305:29280368 | ENSG00000184060.6 | ENST00000585130.1,ENST00000330889.3,ENST00000580525.1,ENST00000584828.1 |
| exon_skip_150607 | 17 | 29276304:29276388:29281495:29281573:29283258:29283380 | 29281495:29281573 | ENSG00000184060.6 | ENST00000584989.1 |
| exon_skip_150609 | 17 | 29280305:29280368:29281495:29281573:29283258:29283380 | 29281495:29281573 | ENSG00000184060.6 | ENST00000585130.1,ENST00000330889.3,ENST00000580525.1,ENST00000581285.1,ENST00000584828.1 |
| 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 ADAP2 |
| 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 |
| ENST00000330889 | 29253844 | 29253936 | Frame-shift |
| ENST00000330889 | 29258906 | 29258986 | Frame-shift |
| ENST00000330889 | 29271924 | 29272071 | In-frame |
| ENST00000330889 | 29276304 | 29276388 | In-frame |
| ENST00000330889 | 29280305 | 29280368 | In-frame |
| ENST00000330889 | 29281495 | 29281573 | 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 |
| ENST00000330889 | 29253844 | 29253936 | Frame-shift |
| ENST00000330889 | 29258906 | 29258986 | Frame-shift |
| ENST00000330889 | 29271924 | 29272071 | In-frame |
| ENST00000330889 | 29276304 | 29276388 | In-frame |
| ENST00000330889 | 29280305 | 29280368 | In-frame |
| ENST00000330889 | 29281495 | 29281573 | In-frame |
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Infer the effects of exon skipping event on protein functional features for ADAP2 |
| 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 |
| ENST00000330889 | 2951 | 381 | 29271924 | 29272071 | 846 | 992 | 170 | 219 |
| ENST00000330889 | 2951 | 381 | 29276304 | 29276388 | 993 | 1076 | 219 | 247 |
| ENST00000330889 | 2951 | 381 | 29280305 | 29280368 | 1077 | 1139 | 247 | 268 |
| ENST00000330889 | 2951 | 381 | 29281495 | 29281573 | 1140 | 1217 | 268 | 294 |
| 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 |
| ENST00000330889 | 2951 | 381 | 29271924 | 29272071 | 846 | 992 | 170 | 219 |
| ENST00000330889 | 2951 | 381 | 29276304 | 29276388 | 993 | 1076 | 219 | 247 |
| ENST00000330889 | 2951 | 381 | 29280305 | 29280368 | 1077 | 1139 | 247 | 268 |
| ENST00000330889 | 2951 | 381 | 29281495 | 29281573 | 1140 | 1217 | 268 | 294 |
| 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 |
| Q9NPF8 | 170 | 219 | 1 | 381 | Chain | ID=PRO_0000074206;Note=Arf-GAP with dual PH domain-containing protein 2 |
| Q9NPF8 | 170 | 219 | 132 | 233 | Domain | Note=PH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9NPF8 | 219 | 247 | 1 | 381 | Chain | ID=PRO_0000074206;Note=Arf-GAP with dual PH domain-containing protein 2 |
| Q9NPF8 | 219 | 247 | 132 | 233 | Domain | Note=PH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9NPF8 | 247 | 268 | 1 | 381 | Chain | ID=PRO_0000074206;Note=Arf-GAP with dual PH domain-containing protein 2 |
| Q9NPF8 | 247 | 268 | 255 | 361 | Domain | Note=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9NPF8 | 268 | 294 | 269 | 269 | Alternative sequence | ID=VSP_011180;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NPF8 | 268 | 294 | 1 | 381 | Chain | ID=PRO_0000074206;Note=Arf-GAP with dual PH domain-containing protein 2 |
| Q9NPF8 | 268 | 294 | 255 | 361 | Domain | Note=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| 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 |
| Q9NPF8 | 170 | 219 | 1 | 381 | Chain | ID=PRO_0000074206;Note=Arf-GAP with dual PH domain-containing protein 2 |
| Q9NPF8 | 170 | 219 | 132 | 233 | Domain | Note=PH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9NPF8 | 219 | 247 | 1 | 381 | Chain | ID=PRO_0000074206;Note=Arf-GAP with dual PH domain-containing protein 2 |
| Q9NPF8 | 219 | 247 | 132 | 233 | Domain | Note=PH 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9NPF8 | 247 | 268 | 1 | 381 | Chain | ID=PRO_0000074206;Note=Arf-GAP with dual PH domain-containing protein 2 |
| Q9NPF8 | 247 | 268 | 255 | 361 | Domain | Note=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q9NPF8 | 268 | 294 | 269 | 269 | Alternative sequence | ID=VSP_011180;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q9NPF8 | 268 | 294 | 1 | 381 | Chain | ID=PRO_0000074206;Note=Arf-GAP with dual PH domain-containing protein 2 |
| Q9NPF8 | 268 | 294 | 255 | 361 | Domain | Note=PH 2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
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SNVs in the skipped exons for ADAP2 |
| - 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_150601 | 29271925 | 29272071 | 29271991 | 29271991 | Frame_Shift_Del | G | - | p.G193fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_150602 | 29276305 | 29276388 | 29276355 | 29276355 | Frame_Shift_Del | A | - | p.L236fs |
| SKCM | TCGA-BF-AAP2-01 | exon_skip_150592 | 29249958 | 29250088 | 29249967 | 29249967 | Nonsense_Mutation | G | A | p.W35* |
| PAAD | TCGA-IB-7651-01 | exon_skip_150592 | 29249958 | 29250088 | 29250056 | 29250056 | Nonsense_Mutation | C | T | p.R65* |
| PAAD | TCGA-IB-7651-01 | exon_skip_150592 | 29249958 | 29250088 | 29250056 | 29250056 | Nonsense_Mutation | C | T | p.R65X |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_150600 exon_skip_150597 | 29258907 | 29258986 | 29258929 | 29258929 | Nonsense_Mutation | C | T | p.R114* |
| COAD | TCGA-AZ-4315-01 | exon_skip_150609 exon_skip_150607 | 29281496 | 29281573 | 29281502 | 29281502 | Nonsense_Mutation | G | T | p.E271X |
| LUAD | TCGA-44-8119-01 | exon_skip_150609 exon_skip_150607 | 29281496 | 29281573 | 29281514 | 29281514 | Nonsense_Mutation | A | T | p.K275* |
| STAD | TCGA-CG-4305-01 | exon_skip_150609 exon_skip_150607 | 29281496 | 29281573 | 29281495 | 29281495 | Splice_Site | G | A | . |
| STAD | TCGA-CG-4305-01 | exon_skip_150609 exon_skip_150607 | 29281496 | 29281573 | 29281495 | 29281495 | Splice_Site | G | A | p.Q269_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 |
| KG1C_CENTRAL_NERVOUS_SYSTEM | 29253845 | 29253936 | 29253893 | 29253894 | Frame_Shift_Del | AG | - | p.R92fs |
| KG1C_CENTRAL_NERVOUS_SYSTEM | 29253827 | 29253936 | 29253893 | 29253894 | Frame_Shift_Del | AG | - | p.R92fs |
| KM12_LARGE_INTESTINE | 29249958 | 29250088 | 29250012 | 29250012 | Missense_Mutation | G | A | p.G50D |
| HEC1A_ENDOMETRIUM | 29249958 | 29250088 | 29250014 | 29250014 | Missense_Mutation | G | A | p.V51I |
| HEC1_ENDOMETRIUM | 29249958 | 29250088 | 29250014 | 29250014 | Missense_Mutation | G | A | p.V51I |
| HEC1B_ENDOMETRIUM | 29249958 | 29250088 | 29250014 | 29250014 | Missense_Mutation | G | A | p.V51I |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29249958 | 29250088 | 29250021 | 29250021 | Missense_Mutation | G | A | p.R53H |
| VAESBJ_SOFT_TISSUE | 29249958 | 29250088 | 29250070 | 29250070 | Missense_Mutation | G | T | p.W69C |
| U2OS_BONE | 29249958 | 29250088 | 29250077 | 29250077 | Missense_Mutation | A | G | p.S72G |
| HCC2998_LARGE_INTESTINE | 29258907 | 29258986 | 29258930 | 29258930 | Missense_Mutation | G | A | p.R114Q |
| NCIH524_LUNG | 29258907 | 29258986 | 29258945 | 29258945 | Missense_Mutation | G | A | p.R119K |
| JAR_PLACENTA | 29271925 | 29272071 | 29271932 | 29271932 | Missense_Mutation | G | T | p.S173I |
| RCCAB_KIDNEY | 29271925 | 29272071 | 29271963 | 29271963 | Missense_Mutation | G | T | p.L183F |
| HS675T_FIBROBLAST | 29271925 | 29272071 | 29272054 | 29272054 | Missense_Mutation | T | C | p.Y214H |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29276305 | 29276388 | 29276332 | 29276332 | Missense_Mutation | C | T | p.R229C |
| RS5_FIBROBLAST | 29281496 | 29281573 | 29281544 | 29281544 | Missense_Mutation | C | T | p.R285W |
| YD38_UPPER_AERODIGESTIVE_TRACT | 29281496 | 29281573 | 29281572 | 29281572 | Splice_Site | T | C | p.L294P |
| CAR1_LARGE_INTESTINE | 29281496 | 29281573 | 29281572 | 29281572 | Splice_Site | T | C | p.L294P |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ADAP2 |
| 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 ADAP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ADAP2 |
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RelatedDrugs for ADAP2 |
| 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 ADAP2 |
| 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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