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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 ABR |
 Gene summary |
| Gene information | Gene symbol | ABR | Gene ID | 29 |
| Gene name | ABR, RhoGEF and GTPase activating protein | |
| Synonyms | MDB | |
| Cytomap | 17p13.3 | |
| Type of gene | protein-coding | |
| Description | active breakpoint cluster region-related proteinactive BCR-related | |
| Modification date | 20180523 | |
| UniProtAcc | Q12979 | |
| Context | PubMed: ABR [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 ABR 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 ABR |
| 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 ABR |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_285104 | 17 | 909357:909409:910404:910552:912918:913024 | 910404:910552 | ENSG00000159842.10 | ENST00000572585.1,ENST00000574437.1,ENST00000543210.2,ENST00000536794.2,ENST00000291107.2,ENST00000544583.2,ENST00000573559.1,ENST00000302538.5 |
| exon_skip_285111 | 17 | 915176:915225:915713:915797:915927:916005 | 915713:915797 | ENSG00000159842.10 | ENST00000572152.1 |
| exon_skip_285113 | 17 | 953793:953874:959274:959349:960237:960342 | 959274:959349 | ENSG00000159842.10 | ENST00000574437.1,ENST00000536794.2,ENST00000291107.2,ENST00000544583.2,ENST00000575770.1,ENST00000302538.5 |
| exon_skip_285114 | 17 | 953793:953874:960237:960342:961209:961285 | 960237:960342 | ENSG00000159842.10 | ENST00000574544.1 |
| exon_skip_285115 | 17 | 961209:961285:961984:962107:970316:970482 | 961984:962107 | ENSG00000159842.10 | ENST00000574437.1,ENST00000536794.2,ENST00000291107.2,ENST00000544583.2,ENST00000574544.1,ENST00000302538.5 |
| exon_skip_285117 | 17 | 961984:962107:970316:970482:973208:973223 | 970316:970482 | ENSG00000159842.10 | ENST00000574437.1,ENST00000536794.2,ENST00000291107.2,ENST00000544583.2,ENST00000574544.1,ENST00000302538.5 |
| exon_skip_285121 | 17 | 975972:975994:976864:976917:982569:982630 | 976864:976917 | ENSG00000159842.10 | ENST00000573667.1,ENST00000574437.1,ENST00000576964.1,ENST00000291107.2,ENST00000544583.2,ENST00000570441.1,ENST00000302538.5 |
| exon_skip_285126 | 17 | 976864:976917:982569:982630:986759:986830 | 982569:982630 | ENSG00000159842.10 | ENST00000573667.1,ENST00000574437.1,ENST00000576964.1,ENST00000291107.2,ENST00000544583.2,ENST00000570441.1,ENST00000302538.5 |
| exon_skip_285127 | 17 | 982569:982630:986759:986867:994904:995016 | 986759:986867 | ENSG00000159842.10 | ENST00000574437.1,ENST00000291107.2,ENST00000544583.2,ENST00000570441.1,ENST00000302538.5 |
| exon_skip_285131 | 17 | 995038:995090:1003876:1003975:1012173:1012340 | 1003876:1003975 | ENSG00000159842.10 | ENST00000291107.2 |
| exon_skip_285133 | 17 | 995038:995090:1003876:1003975:1028517:1028702 | 1003876:1003975 | ENSG00000159842.10 | ENST00000570525.1,ENST00000574266.1,ENST00000574139.1,ENST00000574437.1,ENST00000544583.2,ENST00000302538.5 |
| exon_skip_285142 | 17 | 1003876:1003975:1028517:1028702:1090093:1090616 | 1028517:1028702 | ENSG00000159842.10 | ENST00000544583.2 |
| exon_skip_285157 | 17 | 1028658:1028702:1081210:1081353:1082960:1083078 | 1081210:1081353 | ENSG00000159842.10 | ENST00000574266.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for ABR |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_285104 | 17 | 909357:909409:910404:910552:912918:913024 | 910404:910552 | ENSG00000159842.10 | ENST00000302538.5,ENST00000572585.1,ENST00000544583.2,ENST00000574437.1,ENST00000291107.2,ENST00000543210.2,ENST00000536794.2,ENST00000573559.1 |
| exon_skip_285111 | 17 | 915176:915225:915713:915797:915927:916005 | 915713:915797 | ENSG00000159842.10 | ENST00000572152.1 |
| exon_skip_285113 | 17 | 953793:953874:959274:959349:960237:960342 | 959274:959349 | ENSG00000159842.10 | ENST00000302538.5,ENST00000544583.2,ENST00000574437.1,ENST00000291107.2,ENST00000536794.2,ENST00000575770.1 |
| exon_skip_285114 | 17 | 953793:953874:960237:960342:961209:961285 | 960237:960342 | ENSG00000159842.10 | ENST00000574544.1 |
| exon_skip_285115 | 17 | 961209:961285:961984:962107:970316:970482 | 961984:962107 | ENSG00000159842.10 | ENST00000302538.5,ENST00000544583.2,ENST00000574437.1,ENST00000291107.2,ENST00000536794.2,ENST00000574544.1 |
| exon_skip_285117 | 17 | 961984:962107:970316:970482:973208:973223 | 970316:970482 | ENSG00000159842.10 | ENST00000302538.5,ENST00000544583.2,ENST00000574437.1,ENST00000291107.2,ENST00000536794.2,ENST00000574544.1 |
| exon_skip_285121 | 17 | 975972:975994:976864:976917:982569:982630 | 976864:976917 | ENSG00000159842.10 | ENST00000302538.5,ENST00000544583.2,ENST00000574437.1,ENST00000291107.2,ENST00000576964.1,ENST00000573667.1,ENST00000570441.1 |
| exon_skip_285126 | 17 | 976864:976917:982569:982630:986759:986830 | 982569:982630 | ENSG00000159842.10 | ENST00000302538.5,ENST00000544583.2,ENST00000574437.1,ENST00000291107.2,ENST00000576964.1,ENST00000573667.1,ENST00000570441.1 |
| exon_skip_285127 | 17 | 982569:982630:986759:986867:994904:995016 | 986759:986867 | ENSG00000159842.10 | ENST00000302538.5,ENST00000544583.2,ENST00000574437.1,ENST00000291107.2,ENST00000570441.1 |
| exon_skip_285131 | 17 | 995038:995090:1003876:1003975:1012173:1012340 | 1003876:1003975 | ENSG00000159842.10 | ENST00000291107.2 |
| exon_skip_285133 | 17 | 995038:995090:1003876:1003975:1028517:1028702 | 1003876:1003975 | ENSG00000159842.10 | ENST00000302538.5,ENST00000544583.2,ENST00000574437.1,ENST00000574139.1,ENST00000570525.1,ENST00000574266.1 |
| exon_skip_285157 | 17 | 1028658:1028702:1081210:1081353:1082960:1083078 | 1081210:1081353 | ENSG00000159842.10 | ENST00000574266.1 |
| exon_skip_285165 | 17 | 1057130:1057531:1057675:1057740:1058176:1058245 | 1057675:1057740 | ENSG00000159842.10 | ENST00000574048.2 |
| 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 ABR |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for ABR |
| 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 ABR |
| - 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 |
| HNSC | TCGA-CR-5248-01 | exon_skip_285142 | 1028518 | 1028702 | 1028559 | 1028559 | Frame_Shift_Del | C | - | p.D23fs |
| HNSC | TCGA-CR-5248-01 | exon_skip_285142 | 1028518 | 1028702 | 1028559 | 1028559 | Frame_Shift_Del | C | - | p.D69fs |
| STAD | TCGA-HU-A4GX-01 | exon_skip_285142 | 1028518 | 1028702 | 1028559 | 1028559 | Frame_Shift_Del | C | - | p.D69fs |
| UCEC | TCGA-BG-A0M4-01 | exon_skip_285142 | 1028518 | 1028702 | 1028559 | 1028559 | Frame_Shift_Del | C | - | p.D69fs |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_285142 | 1028518 | 1028702 | 1028642 | 1028642 | Frame_Shift_Del | G | - | p.P41fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_285115 | 961985 | 962107 | 962021 | 962021 | Frame_Shift_Del | G | - | p.P377fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_285115 | 961985 | 962107 | 962021 | 962021 | Frame_Shift_Del | G | - | p.P377fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_285115 | 961985 | 962107 | 962021 | 962021 | Frame_Shift_Del | G | - | p.P377fs |
| STAD | TCGA-BR-6852-01 | exon_skip_285117 | 970317 | 970482 | 970397 | 970397 | Frame_Shift_Del | G | - | p.Q368fs |
| COAD | TCGA-CK-5916-01 | exon_skip_285117 | 970317 | 970482 | 970445 | 970445 | Frame_Shift_Del | G | - | p.L315fs |
| COAD | TCGA-D5-6540-01 | exon_skip_285142 | 1028518 | 1028702 | 1028558 | 1028559 | Frame_Shift_Ins | - | C | p.D69fs |
| - 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 |
| NCIH1048_LUNG | 1028518 | 1028702 | 1028559 | 1028559 | Frame_Shift_Del | C | - | p.D69fs |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 1028518 | 1028702 | 1028559 | 1028559 | Frame_Shift_Del | C | - | p.D69fs |
| AN3CA_ENDOMETRIUM | 1028518 | 1028702 | 1028559 | 1028559 | Frame_Shift_Del | C | - | p.D69fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 1028518 | 1028702 | 1028559 | 1028559 | Frame_Shift_Del | C | - | p.D69fs |
| IGROV1_OVARY | 1028518 | 1028702 | 1028647 | 1028647 | Frame_Shift_Del | C | - | p.G39fs |
| MFE296_ENDOMETRIUM | 961985 | 962107 | 962059 | 962061 | In_Frame_Del | TCT | - | p.K410del |
| HEC108_ENDOMETRIUM | 1028518 | 1028702 | 1028529 | 1028529 | Missense_Mutation | G | T | p.L79M |
| TTC442_SOFT_TISSUE | 1028518 | 1028702 | 1028565 | 1028565 | Missense_Mutation | C | A | p.G67W |
| HEC6_ENDOMETRIUM | 1028518 | 1028702 | 1028577 | 1028577 | Missense_Mutation | G | A | p.R63C |
| SNUC4_LARGE_INTESTINE | 1028518 | 1028702 | 1028618 | 1028618 | Missense_Mutation | T | A | p.Y49F |
| HEC59_ENDOMETRIUM | 1028518 | 1028702 | 1028643 | 1028643 | Missense_Mutation | G | A | p.P41S |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 1028518 | 1028702 | 1028645 | 1028645 | Missense_Mutation | G | C | p.P40R |
| COLO320_LARGE_INTESTINE | 959275 | 959349 | 959281 | 959281 | Missense_Mutation | A | G | p.S519P |
| LOVO_LARGE_INTESTINE | 959275 | 959349 | 959281 | 959281 | Missense_Mutation | A | G | p.S519P |
| LS123_LARGE_INTESTINE | 959275 | 959349 | 959281 | 959281 | Missense_Mutation | A | G | p.S519P |
| NCIH1694_LUNG | 959275 | 959349 | 959281 | 959281 | Missense_Mutation | A | G | p.S519P |
| 253J_URINARY_TRACT | 959275 | 959349 | 959316 | 959316 | Missense_Mutation | T | C | p.H507R |
| 253JBV_URINARY_TRACT | 959275 | 959349 | 959316 | 959316 | Missense_Mutation | T | C | p.H507R |
| SCABER_URINARY_TRACT | 960238 | 960342 | 960311 | 960311 | Missense_Mutation | C | A | p.E471D |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 961985 | 962107 | 961996 | 961996 | Missense_Mutation | G | A | p.R432W |
| SNU324_PANCREAS | 961985 | 962107 | 961999 | 961999 | Missense_Mutation | T | C | p.N431D |
| SNU1040_LARGE_INTESTINE | 961985 | 962107 | 962073 | 962073 | Missense_Mutation | C | T | p.R406H |
| PLCPRF5_LIVER | 961985 | 962107 | 962083 | 962083 | Missense_Mutation | C | A | p.A403S |
| CASKI_CERVIX | 976865 | 976917 | 976894 | 976894 | Missense_Mutation | G | A | p.R242W |
| TOV21G_OVARY | 982570 | 982630 | 982597 | 982597 | Missense_Mutation | C | A | p.D225Y |
| SCC90_UPPER_AERODIGESTIVE_TRACT | 986760 | 986867 | 986764 | 986764 | Nonsense_Mutation | G | C | p.S212* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 960238 | 960342 | 960239 | 960239 | Splice_Site | G | A | p.D495D |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ABR |
| 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 ABR |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ABR |
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RelatedDrugs for ABR |
| 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 ABR |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| ABR | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
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