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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 APLP1 |
 Gene summary |
| Gene information | Gene symbol | APLP1 | Gene ID | 333 |
| Gene name | amyloid beta precursor like protein 1 | |
| Synonyms | APLP | |
| Cytomap | 19q13.12 | |
| Type of gene | protein-coding | |
| Description | amyloid-like protein 1amyloid beta (A4) precursor-like protein 1amyloid precursor-like protein 1 | |
| Modification date | 20180519 | |
| UniProtAcc | P51693 | |
| Context | PubMed: APLP1 [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 |
| APLP1 | GO:0071874 | cellular response to norepinephrine stimulus | 16531006 |
| APLP1 | GO:0106072 | negative regulation of adenylate cyclase-activating G-protein coupled receptor signaling pathway | 16531006 |
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Exon skipping events across known transcript of Ensembl for APLP1 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 APLP1 |
| 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 APLP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_306009 | 19 | 36359464:36359685:36360568:36360712:36361797:36361930 | 36360568:36360712 | ENSG00000105290.7 | ENST00000221891.4 |
| exon_skip_306010 | 19 | 36359464:36359685:36360650:36360712:36361797:36361930 | 36360650:36360712 | ENSG00000105290.7 | ENST00000590561.1 |
| exon_skip_306013 | 19 | 36362759:36362938:36363384:36363515:36364540:36364615 | 36363384:36363515 | ENSG00000105290.7 | ENST00000592316.1,ENST00000537454.2,ENST00000221891.4,ENST00000586861.1,ENST00000590561.1 |
| exon_skip_306014 | 19 | 36364547:36364615:36365405:36365564:36365642:36365771 | 36365405:36365564 | ENSG00000105290.7 | ENST00000537454.2,ENST00000221891.4,ENST00000586861.1,ENST00000590561.1 |
| exon_skip_306015 | 19 | 36367418:36367518:36368619:36368727:36368986:36369010 | 36368619:36368727 | ENSG00000105290.7 | ENST00000588808.1,ENST00000537454.2,ENST00000589298.2,ENST00000586861.1 |
| exon_skip_306016 | 19 | 36367418:36367518:36368619:36368727:36369485:36369556 | 36368619:36368727 | ENSG00000105290.7 | ENST00000587274.1 |
| exon_skip_306021 | 19 | 36368619:36368727:36368983:36369010:36369485:36369556 | 36368983:36369010 | ENSG00000105290.7 | ENST00000221891.4,ENST00000590561.1 |
| exon_skip_306024 | 19 | 36368619:36368727:36368986:36369010:36369485:36369556 | 36368986:36369010 | ENSG00000105290.7 | ENST00000588808.1,ENST00000537454.2,ENST00000586861.1 |
| exon_skip_306029 | 19 | 36369494:36369556:36369791:36369854:36369975:36370076 | 36369791:36369854 | ENSG00000105290.7 | ENST00000590926.1,ENST00000588808.1,ENST00000537454.2,ENST00000221891.4,ENST00000587274.1,ENST00000586861.1,ENST00000590561.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for APLP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_306009 | 19 | 36359464:36359685:36360568:36360712:36361797:36361930 | 36360568:36360712 | ENSG00000105290.7 | ENST00000221891.4 |
| exon_skip_306010 | 19 | 36359464:36359685:36360650:36360712:36361797:36361930 | 36360650:36360712 | ENSG00000105290.7 | ENST00000590561.1 |
| exon_skip_306013 | 19 | 36362759:36362938:36363384:36363515:36364540:36364615 | 36363384:36363515 | ENSG00000105290.7 | ENST00000537454.2,ENST00000221891.4,ENST00000590561.1,ENST00000586861.1,ENST00000592316.1 |
| exon_skip_306014 | 19 | 36364547:36364615:36365405:36365564:36365642:36365771 | 36365405:36365564 | ENSG00000105290.7 | ENST00000537454.2,ENST00000221891.4,ENST00000590561.1,ENST00000586861.1 |
| exon_skip_306015 | 19 | 36367418:36367518:36368619:36368727:36368986:36369010 | 36368619:36368727 | ENSG00000105290.7 | ENST00000537454.2,ENST00000586861.1,ENST00000588808.1,ENST00000589298.2 |
| exon_skip_306016 | 19 | 36367418:36367518:36368619:36368727:36369485:36369556 | 36368619:36368727 | ENSG00000105290.7 | ENST00000587274.1 |
| exon_skip_306021 | 19 | 36368619:36368727:36368983:36369010:36369485:36369556 | 36368983:36369010 | ENSG00000105290.7 | ENST00000221891.4,ENST00000590561.1 |
| exon_skip_306024 | 19 | 36368619:36368727:36368986:36369010:36369485:36369556 | 36368986:36369010 | ENSG00000105290.7 | ENST00000537454.2,ENST00000586861.1,ENST00000588808.1 |
| exon_skip_306029 | 19 | 36369494:36369556:36369791:36369854:36369975:36370076 | 36369791:36369854 | ENSG00000105290.7 | ENST00000537454.2,ENST00000221891.4,ENST00000590561.1,ENST00000586861.1,ENST00000588808.1,ENST00000587274.1,ENST00000590926.1 |
| 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 APLP1 |
| 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 APLP1 |
| 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 APLP1 |
| - 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-G3-A3CJ-01 | exon_skip_306021 exon_skip_306024 | 36368984 | 36369010 | 36368990 | 36368990 | Frame_Shift_Del | C | - | p.T520fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_306021 exon_skip_306024 | 36368987 | 36369010 | 36368990 | 36368990 | Frame_Shift_Del | C | - | p.T520fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_306021 exon_skip_306024 | 36368984 | 36369010 | 36369006 | 36369006 | Frame_Shift_Del | A | - | p.P525fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_306021 exon_skip_306024 | 36368987 | 36369010 | 36369006 | 36369006 | Frame_Shift_Del | A | - | p.P525fs |
| BLCA | TCGA-XF-AAMG-01 | exon_skip_306015 exon_skip_306016 | 36368620 | 36368727 | 36368637 | 36368637 | Nonsense_Mutation | G | T | p.E488* |
| PAAD | TCGA-IB-7651-01 | exon_skip_306009 | 36360569 | 36360712 | 36360568 | 36360568 | Splice_Site | G | T | . |
| - 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 |
| NCIH1770_LUNG | 36363385 | 36363515 | 36363400 | 36363400 | Missense_Mutation | G | A | p.R289K |
| NCIH2106_LUNG | 36363385 | 36363515 | 36363400 | 36363400 | Missense_Mutation | G | A | p.R289K |
| OCUM1_STOMACH | 36363385 | 36363515 | 36363450 | 36363450 | Missense_Mutation | G | A | p.E306K |
| SW1573_LUNG | 36363385 | 36363515 | 36363501 | 36363501 | Missense_Mutation | C | T | p.R323C |
| SKMEL24_SKIN | 36365406 | 36365564 | 36365416 | 36365416 | Missense_Mutation | C | T | p.S356F |
| RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 36365406 | 36365564 | 36365461 | 36365461 | Missense_Mutation | G | A | p.R371H |
| BHT101_THYROID | 36365406 | 36365564 | 36365478 | 36365478 | Missense_Mutation | G | A | p.A377T |
| SNU1040_LARGE_INTESTINE | 36365406 | 36365564 | 36365488 | 36365488 | Missense_Mutation | T | C | p.V380A |
| DMS454_LUNG | 36365406 | 36365564 | 36365517 | 36365517 | Missense_Mutation | G | T | p.A390S |
| SW684_SOFT_TISSUE | 36365406 | 36365564 | 36365526 | 36365526 | Missense_Mutation | G | A | p.E393K |
| HEC108_ENDOMETRIUM | 36365406 | 36365564 | 36365527 | 36365527 | Missense_Mutation | A | G | p.E393G |
| HCT15_LARGE_INTESTINE | 36365406 | 36365564 | 36365528 | 36365528 | Missense_Mutation | G | T | p.E393D |
| C4I_CERVIX | 36365406 | 36365564 | 36365557 | 36365557 | Missense_Mutation | C | T | p.P403L |
| LS411N_LARGE_INTESTINE | 36368620 | 36368727 | 36368628 | 36368628 | Missense_Mutation | C | A | p.L485I |
| SW684_SOFT_TISSUE | 36368620 | 36368727 | 36368659 | 36368659 | Missense_Mutation | T | C | p.L495S |
| YD10B_UPPER_AERODIGESTIVE_TRACT | 36368620 | 36368727 | 36368688 | 36368688 | Missense_Mutation | G | A | p.E505K |
| EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 36369792 | 36369854 | 36369799 | 36369799 | Missense_Mutation | C | A | p.A553E |
| IGR1_SKIN | 36365406 | 36365564 | 36365412 | 36365412 | Nonsense_Mutation | C | T | p.Q355* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for APLP1 |
| 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 APLP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for APLP1 |
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RelatedDrugs for APLP1 |
| 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 |
| P51693 | DB01593 | Zinc | Amyloid-like protein 1 | small molecule | approved|investigational | |
| P51693 | DB14487 | Zinc acetate | Amyloid-like protein 1 | small molecule | approved|investigational | |
| P51693 | DB14533 | Zinc chloride | Amyloid-like protein 1 | small molecule | approved|investigational |
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RelatedDiseases for APLP1 |
| 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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