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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 LAPTM4B |
 Gene summary |
| Gene information | Gene symbol | LAPTM4B | Gene ID | 55353 |
| Gene name | lysosomal protein transmembrane 4 beta | |
| Synonyms | LAPTM4beta|LC27 | |
| Cytomap | 8q22.1 | |
| Type of gene | protein-coding | |
| Description | lysosomal-associated transmembrane protein 4Blysosomal associated protein transmembrane 4 betalysosome-associated transmembrane protein 4-beta | |
| Modification date | 20180523 | |
| UniProtAcc | Q86VI4 | |
| Context | PubMed: LAPTM4B [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 |
| LAPTM4B | GO:0032509 | endosome transport via multivesicular body sorting pathway | 25588945 |
| LAPTM4B | GO:0032911 | negative regulation of transforming growth factor beta1 production | 26126825 |
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Exon skipping events across known transcript of Ensembl for LAPTM4B 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 LAPTM4B |
| 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 LAPTM4B |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485099 | 8 | 98788076:98788336:98817580:98817692:98827555:98827629 | 98817580:98817692 | ENSG00000104341.12 | ENST00000521545.2 |
| exon_skip_485101 | 8 | 98817580:98817692:98827531:98827629:98828285:98828408 | 98827531:98827629 | ENSG00000104341.12 | ENST00000517924.1 |
| exon_skip_485104 | 8 | 98817580:98817692:98827555:98827629:98828285:98828408 | 98827555:98827629 | ENSG00000104341.12 | ENST00000445593.2,ENST00000521545.2 |
| exon_skip_485106 | 8 | 98827555:98827629:98828285:98828408:98831367:98831392 | 98828285:98828408 | ENSG00000104341.12 | ENST00000517924.1,ENST00000445593.2,ENST00000521545.2 |
| exon_skip_485111 | 8 | 98828285:98828408:98831367:98831466:98837285:98837381 | 98831367:98831466 | ENSG00000104341.12 | ENST00000445593.2,ENST00000521545.2 |
| exon_skip_485113 | 8 | 98831367:98831466:98837285:98837381:98863624:98863702 | 98837285:98837381 | ENSG00000104341.12 | ENST00000445593.2,ENST00000521545.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for LAPTM4B |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_485099 | 8 | 98788076:98788336:98817580:98817692:98827555:98827629 | 98817580:98817692 | ENSG00000104341.12 | ENST00000521545.2 |
| exon_skip_485101 | 8 | 98817580:98817692:98827531:98827629:98828285:98828408 | 98827531:98827629 | ENSG00000104341.12 | ENST00000517924.1 |
| exon_skip_485104 | 8 | 98817580:98817692:98827555:98827629:98828285:98828408 | 98827555:98827629 | ENSG00000104341.12 | ENST00000445593.2,ENST00000521545.2 |
| exon_skip_485106 | 8 | 98827555:98827629:98828285:98828408:98831367:98831392 | 98828285:98828408 | ENSG00000104341.12 | ENST00000445593.2,ENST00000521545.2,ENST00000517924.1 |
| exon_skip_485111 | 8 | 98828285:98828408:98831367:98831466:98837285:98837381 | 98831367:98831466 | ENSG00000104341.12 | ENST00000445593.2,ENST00000521545.2 |
| exon_skip_485113 | 8 | 98831367:98831466:98837285:98837381:98863624:98863702 | 98837285:98837381 | ENSG00000104341.12 | ENST00000445593.2,ENST00000521545.2 |
| 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 LAPTM4B |
| 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 LAPTM4B |
| 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 LAPTM4B |
| - 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_485099 | 98817581 | 98817692 | 98817618 | 98817618 | Frame_Shift_Del | C | - | p.A137fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_485111 | 98831368 | 98831466 | 98831380 | 98831380 | Frame_Shift_Del | C | - | p.P232fs |
| BRCA | TCGA-B6-A0RE-01 | exon_skip_485099 | 98817581 | 98817692 | 98817648 | 98817648 | Nonsense_Mutation | C | G | p.S147* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_485113 | 98837286 | 98837381 | 98837319 | 98837319 | Nonsense_Mutation | C | T | p.R272* |
| SKCM | TCGA-FW-A3R5-06 | exon_skip_485113 | 98837286 | 98837381 | 98837319 | 98837319 | Nonsense_Mutation | C | T | p.R272X |
| KIRC | TCGA-CJ-5689-01 | exon_skip_485099 | 98817581 | 98817692 | 98817579 | 98817579 | Splice_Site | A | T | . |
| PAAD | TCGA-US-A77E-01 | exon_skip_485099 | 98817581 | 98817692 | 98817579 | 98817579 | Splice_Site | A | T | . |
| PRAD | TCGA-J4-A6G1-01 | exon_skip_485099 | 98817581 | 98817692 | 98817694 | 98817694 | 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 |
| SNU407_LARGE_INTESTINE | 98831368 | 98831466 | 98831426 | 98831428 | In_Frame_Del | TTA | - | p.I158del |
| HEC151_ENDOMETRIUM | 98817581 | 98817692 | 98817603 | 98817603 | Missense_Mutation | T | C | p.L41S |
| 22RV1_PROSTATE | 98817581 | 98817692 | 98817617 | 98817617 | Missense_Mutation | G | A | p.A46T |
| MDAMB175VII_BREAST | 98817581 | 98817692 | 98817690 | 98817690 | Missense_Mutation | C | G | p.A70G |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98827556 | 98827629 | 98827568 | 98827568 | Missense_Mutation | C | T | p.A75V |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98827532 | 98827629 | 98827568 | 98827568 | Missense_Mutation | C | T | p.A75V |
| RCCJF_KIDNEY | 98827556 | 98827629 | 98827591 | 98827591 | Missense_Mutation | A | G | p.I83V |
| RCCJF_KIDNEY | 98827532 | 98827629 | 98827591 | 98827591 | Missense_Mutation | A | G | p.I83V |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98828286 | 98828408 | 98828292 | 98828292 | Missense_Mutation | G | A | p.A98T |
| BT474_BREAST | 98828286 | 98828408 | 98828315 | 98828315 | Missense_Mutation | C | G | p.F105L |
| 5637_URINARY_TRACT | 98831368 | 98831466 | 98831417 | 98831417 | Missense_Mutation | G | T | p.C153F |
| RVH421_SKIN | 98837286 | 98837381 | 98837369 | 98837369 | Missense_Mutation | C | G | p.S197R |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98828286 | 98828408 | 98828407 | 98828407 | Splice_Site | T | C | p.L136P |
| SNU1040_LARGE_INTESTINE | 98837286 | 98837381 | 98837381 | 98837381 | Splice_Site | G | A | p.T201T |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LAPTM4B |
| 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 LAPTM4B |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LAPTM4B |
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RelatedDrugs for LAPTM4B |
| 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 LAPTM4B |
| 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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