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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 APBB1IP |
 Gene summary |
| Gene information | Gene symbol | APBB1IP | Gene ID | 54518 |
| Gene name | amyloid beta precursor protein binding family B member 1 interacting protein | |
| Synonyms | INAG1|PREL1|RARP1|RIAM | |
| Cytomap | 10p12.1 | |
| Type of gene | protein-coding | |
| Description | amyloid beta A4 precursor protein-binding family B member 1-interacting proteinAPBB1-interacting protein 1PREL-1RARP-1Rap1-GTP-interacting adaptor moleculeRap1-interacting adaptor moleculeproline rich EVH1 ligand 1proline-rich protein 73rap1-GTP-i | |
| Modification date | 20180519 | |
| UniProtAcc | Q7Z5R6 | |
| Context | PubMed: APBB1IP [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 APBB1IP 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 APBB1IP |
| 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 APBB1IP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_40190 | 10 | 26781255:26781327:26785232:26785320:26789747:26790040 | 26785232:26785320 | ENSG00000077420.11 | ENST00000376236.4,ENST00000356785.4 |
| exon_skip_40192 | 10 | 26789747:26790040:26792125:26792203:26800675:26800835 | 26792125:26792203 | ENSG00000077420.11 | ENST00000376236.4 |
| exon_skip_40194 | 10 | 26800675:26800835:26802467:26802589:26822367:26822454 | 26802467:26802589 | ENSG00000077420.11 | ENST00000376236.4 |
| exon_skip_40197 | 10 | 26822367:26822454:26825002:26825146:26830510:26830621 | 26825002:26825146 | ENSG00000077420.11 | ENST00000376236.4 |
| exon_skip_40198 | 10 | 26825002:26825146:26830510:26830621:26849033:26849132 | 26830510:26830621 | ENSG00000077420.11 | ENST00000376236.4 |
| exon_skip_40200 | 10 | 26830510:26830621:26849033:26849132:26849658:26849773 | 26849033:26849132 | ENSG00000077420.11 | ENST00000376236.4 |
| exon_skip_40203 | 10 | 26849033:26849132:26849658:26849773:26851254:26851358 | 26849658:26849773 | ENSG00000077420.11 | ENST00000376236.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for APBB1IP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_40190 | 10 | 26781255:26781327:26785232:26785320:26789747:26790040 | 26785232:26785320 | ENSG00000077420.11 | ENST00000376236.4,ENST00000356785.4 |
| exon_skip_40192 | 10 | 26789747:26790040:26792125:26792203:26800675:26800835 | 26792125:26792203 | ENSG00000077420.11 | ENST00000376236.4 |
| exon_skip_40194 | 10 | 26800675:26800835:26802467:26802589:26822367:26822454 | 26802467:26802589 | ENSG00000077420.11 | ENST00000376236.4 |
| exon_skip_40197 | 10 | 26822367:26822454:26825002:26825146:26830510:26830621 | 26825002:26825146 | ENSG00000077420.11 | ENST00000376236.4 |
| exon_skip_40198 | 10 | 26825002:26825146:26830510:26830621:26849033:26849132 | 26830510:26830621 | ENSG00000077420.11 | ENST00000376236.4 |
| exon_skip_40200 | 10 | 26830510:26830621:26849033:26849132:26849658:26849773 | 26849033:26849132 | ENSG00000077420.11 | ENST00000376236.4 |
| exon_skip_40203 | 10 | 26849033:26849132:26849658:26849773:26851254:26851358 | 26849658:26849773 | ENSG00000077420.11 | ENST00000376236.4 |
| 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 APBB1IP |
| 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 |
| ENST00000376236 | 26785232 | 26785320 | Frame-shift |
| ENST00000376236 | 26802467 | 26802589 | Frame-shift |
| ENST00000376236 | 26849658 | 26849773 | Frame-shift |
| ENST00000376236 | 26792125 | 26792203 | In-frame |
| ENST00000376236 | 26825002 | 26825146 | In-frame |
| ENST00000376236 | 26830510 | 26830621 | In-frame |
| ENST00000376236 | 26849033 | 26849132 | 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 |
| ENST00000376236 | 26785232 | 26785320 | Frame-shift |
| ENST00000376236 | 26802467 | 26802589 | Frame-shift |
| ENST00000376236 | 26849658 | 26849773 | Frame-shift |
| ENST00000376236 | 26792125 | 26792203 | In-frame |
| ENST00000376236 | 26825002 | 26825146 | In-frame |
| ENST00000376236 | 26830510 | 26830621 | In-frame |
| ENST00000376236 | 26849033 | 26849132 | In-frame |
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Infer the effects of exon skipping event on protein functional features for APBB1IP |
| 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 |
| ENST00000376236 | 2788 | 666 | 26792125 | 26792203 | 909 | 986 | 151 | 177 |
| ENST00000376236 | 2788 | 666 | 26825002 | 26825146 | 1356 | 1499 | 300 | 348 |
| ENST00000376236 | 2788 | 666 | 26830510 | 26830621 | 1500 | 1610 | 348 | 385 |
| ENST00000376236 | 2788 | 666 | 26849033 | 26849132 | 1611 | 1709 | 385 | 418 |
| 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 |
| ENST00000376236 | 2788 | 666 | 26792125 | 26792203 | 909 | 986 | 151 | 177 |
| ENST00000376236 | 2788 | 666 | 26825002 | 26825146 | 1356 | 1499 | 300 | 348 |
| ENST00000376236 | 2788 | 666 | 26830510 | 26830621 | 1500 | 1610 | 348 | 385 |
| ENST00000376236 | 2788 | 666 | 26849033 | 26849132 | 1611 | 1709 | 385 | 418 |
| 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 |
| Q7Z5R6 | 151 | 177 | 152 | 172 | Alternative sequence | ID=VSP_056542;Note=In isoform 2. EEEEAQAKADKIKLALEKLKE->VSMWDQRWQDHQPLLPITDVP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z5R6 | 151 | 177 | 173 | 666 | Alternative sequence | ID=VSP_056543;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z5R6 | 151 | 177 | 1 | 666 | Chain | ID=PRO_0000181347;Note=Amyloid beta A4 precursor protein-binding family B member 1-interacting protein |
| Q7Z5R6 | 151 | 177 | 152 | 155 | Compositional bias | Note=Poly-Glu |
| Q7Z5R6 | 151 | 177 | 176 | 263 | Domain | Note=Ras-associating;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00166 |
| Q7Z5R6 | 300 | 348 | 173 | 666 | Alternative sequence | ID=VSP_056543;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z5R6 | 300 | 348 | 1 | 666 | Chain | ID=PRO_0000181347;Note=Amyloid beta A4 precursor protein-binding family B member 1-interacting protein |
| Q7Z5R6 | 300 | 348 | 310 | 419 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q7Z5R6 | 348 | 385 | 173 | 666 | Alternative sequence | ID=VSP_056543;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z5R6 | 348 | 385 | 1 | 666 | Chain | ID=PRO_0000181347;Note=Amyloid beta A4 precursor protein-binding family B member 1-interacting protein |
| Q7Z5R6 | 348 | 385 | 310 | 419 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q7Z5R6 | 385 | 418 | 173 | 666 | Alternative sequence | ID=VSP_056543;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z5R6 | 385 | 418 | 1 | 666 | Chain | ID=PRO_0000181347;Note=Amyloid beta A4 precursor protein-binding family B member 1-interacting protein |
| Q7Z5R6 | 385 | 418 | 310 | 419 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q7Z5R6 | 385 | 418 | 404 | 404 | Natural variant | ID=VAR_050098;Note=T->A;Dbxref=dbSNP:rs34081356 |
| 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 |
| Q7Z5R6 | 151 | 177 | 152 | 172 | Alternative sequence | ID=VSP_056542;Note=In isoform 2. EEEEAQAKADKIKLALEKLKE->VSMWDQRWQDHQPLLPITDVP;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z5R6 | 151 | 177 | 173 | 666 | Alternative sequence | ID=VSP_056543;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z5R6 | 151 | 177 | 1 | 666 | Chain | ID=PRO_0000181347;Note=Amyloid beta A4 precursor protein-binding family B member 1-interacting protein |
| Q7Z5R6 | 151 | 177 | 152 | 155 | Compositional bias | Note=Poly-Glu |
| Q7Z5R6 | 151 | 177 | 176 | 263 | Domain | Note=Ras-associating;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00166 |
| Q7Z5R6 | 300 | 348 | 173 | 666 | Alternative sequence | ID=VSP_056543;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z5R6 | 300 | 348 | 1 | 666 | Chain | ID=PRO_0000181347;Note=Amyloid beta A4 precursor protein-binding family B member 1-interacting protein |
| Q7Z5R6 | 300 | 348 | 310 | 419 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q7Z5R6 | 348 | 385 | 173 | 666 | Alternative sequence | ID=VSP_056543;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z5R6 | 348 | 385 | 1 | 666 | Chain | ID=PRO_0000181347;Note=Amyloid beta A4 precursor protein-binding family B member 1-interacting protein |
| Q7Z5R6 | 348 | 385 | 310 | 419 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q7Z5R6 | 385 | 418 | 173 | 666 | Alternative sequence | ID=VSP_056543;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| Q7Z5R6 | 385 | 418 | 1 | 666 | Chain | ID=PRO_0000181347;Note=Amyloid beta A4 precursor protein-binding family B member 1-interacting protein |
| Q7Z5R6 | 385 | 418 | 310 | 419 | Domain | Note=PH;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00145 |
| Q7Z5R6 | 385 | 418 | 404 | 404 | Natural variant | ID=VAR_050098;Note=T->A;Dbxref=dbSNP:rs34081356 |
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SNVs in the skipped exons for APBB1IP |
| - 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_40194 | 26802468 | 26802589 | 26802473 | 26802473 | Frame_Shift_Del | T | - | p.F234fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_40194 | 26802468 | 26802589 | 26802473 | 26802473 | Frame_Shift_Del | T | - | p.F234fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_40194 | 26802468 | 26802589 | 26802473 | 26802473 | Frame_Shift_Del | T | - | p.F234fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_40194 | 26802468 | 26802589 | 26802473 | 26802473 | Frame_Shift_Del | T | - | p.R232fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_40194 | 26802468 | 26802589 | 26802489 | 26802489 | Frame_Shift_Del | A | - | p.E238fs |
| LUAD | TCGA-78-7155-01 | exon_skip_40197 | 26825003 | 26825146 | 26825135 | 26825135 | Frame_Shift_Del | G | - | p.G345fs |
| GBM | TCGA-19-5952-01 | exon_skip_40203 | 26849659 | 26849773 | 26849669 | 26849672 | Frame_Shift_Del | CTCT | - | p.T422fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_40203 | 26849659 | 26849773 | 26849733 | 26849733 | Frame_Shift_Del | G | - | p.L443fs |
| SKCM | TCGA-EE-A17X-06 | exon_skip_40197 | 26825003 | 26825146 | 26825083 | 26825083 | Nonsense_Mutation | G | A | p.W327* |
| SKCM | TCGA-EE-A17X-06 | exon_skip_40197 | 26825003 | 26825146 | 26825083 | 26825083 | Nonsense_Mutation | G | A | p.W327X |
| LUSC | TCGA-33-4566-01 | exon_skip_40198 | 26830511 | 26830621 | 26830589 | 26830589 | Nonsense_Mutation | A | T | p.K375* |
| LUSC | TCGA-43-6143-01 | exon_skip_40200 | 26849034 | 26849132 | 26849103 | 26849103 | Nonsense_Mutation | C | T | p.Q409* |
| SKCM | TCGA-D3-A3MU-06 | exon_skip_40190 | 26785233 | 26785320 | 26785232 | 26785232 | Splice_Site | G | A | . |
| LIHC | TCGA-EP-A2KA-01 | exon_skip_40197 | 26825003 | 26825146 | 26825148 | 26825148 | Splice_Site | T | C | . |
| - 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 |
| CORL24_LUNG | 26785233 | 26785320 | 26785246 | 26785246 | Missense_Mutation | A | T | p.D29V |
| COLO320_LARGE_INTESTINE | 26785233 | 26785320 | 26785269 | 26785269 | Missense_Mutation | A | C | p.N37H |
| NCIH1563_LUNG | 26792126 | 26792203 | 26792129 | 26792129 | Missense_Mutation | G | A | p.E153K |
| MEWO_SKIN | 26792126 | 26792203 | 26792174 | 26792174 | Missense_Mutation | G | A | p.E168K |
| S117_SOFT_TISSUE | 26802468 | 26802589 | 26802472 | 26802473 | Missense_Mutation | GT | AG | p.F233V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 26802468 | 26802589 | 26802473 | 26802473 | Missense_Mutation | T | G | p.F233V |
| UMUC6_URINARY_TRACT | 26802468 | 26802589 | 26802530 | 26802530 | Missense_Mutation | G | A | p.E252K |
| SNU1_STOMACH | 26825003 | 26825146 | 26825105 | 26825105 | Missense_Mutation | C | T | p.R335W |
| VMRCLCD_LUNG | 26825003 | 26825146 | 26825106 | 26825106 | Missense_Mutation | G | C | p.R335P |
| SNU1040_LARGE_INTESTINE | 26825003 | 26825146 | 26825132 | 26825132 | Missense_Mutation | A | G | p.K344E |
| SW982_SOFT_TISSUE | 26825003 | 26825146 | 26825136 | 26825136 | Missense_Mutation | G | A | p.G345E |
| EN_ENDOMETRIUM | 26830511 | 26830621 | 26830539 | 26830539 | Missense_Mutation | A | G | p.Q358R |
| HEC108_ENDOMETRIUM | 26830511 | 26830621 | 26830541 | 26830541 | Missense_Mutation | T | C | p.F359L |
| HS751T_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26830511 | 26830621 | 26830545 | 26830545 | Missense_Mutation | A | C | p.E360A |
| SNU685_ENDOMETRIUM | 26830511 | 26830621 | 26830549 | 26830550 | Missense_Mutation | TG | AT | p.361_362NV>KF |
| SARC9371_BONE | 26830511 | 26830621 | 26830582 | 26830582 | Missense_Mutation | G | A | p.M372I |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26830511 | 26830621 | 26830593 | 26830593 | Missense_Mutation | C | T | p.A376V |
| ESO51_OESOPHAGUS | 26849034 | 26849132 | 26849094 | 26849094 | Missense_Mutation | A | C | p.T406P |
| SNUC4_LARGE_INTESTINE | 26849659 | 26849773 | 26849693 | 26849693 | Missense_Mutation | C | T | p.A430V |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 26849659 | 26849773 | 26849702 | 26849702 | Missense_Mutation | A | G | p.K433R |
| IGR1_SKIN | 26825003 | 26825146 | 26825083 | 26825083 | Nonsense_Mutation | G | A | p.W327* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for APBB1IP |
| 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 APBB1IP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for APBB1IP |
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RelatedDrugs for APBB1IP |
| 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 APBB1IP |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| APBB1IP | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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