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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 VPS45 |
 Gene summary |
| Gene information | Gene symbol | VPS45 | Gene ID | 11311 |
| Gene name | vacuolar protein sorting 45 homolog | |
| Synonyms | H1|H1VPS45|SCN5|VPS45A|VPS45B|VPS54A|VSP45|VSP45A | |
| Cytomap | 1q21.2 | |
| Type of gene | protein-coding | |
| Description | vacuolar protein sorting-associated protein 45leucocyte vacuolar protein sorting 45vacuolar protein sorting 45A | |
| Modification date | 20180519 | |
| UniProtAcc | Q9NRW7 | |
| Context | PubMed: VPS45 [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 VPS45 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 VPS45 |
| 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 VPS45 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9633 | 1 | 150039884:150040007:150040686:150040821:150044232:150044293 | 150040686:150040821 | ENSG00000136631.8 | ENST00000535106.1,ENST00000460366.1,ENST00000497638.1,ENST00000419023.1 |
| exon_skip_9634 | 1 | 150048310:150048390:150048993:150049062:150049171:150049309 | 150048993:150049062 | ENSG00000136631.8 | ENST00000369130.3,ENST00000462852.1 |
| exon_skip_9639 | 1 | 150048993:150049062:150049171:150049309:150049746:150049857 | 150049171:150049309 | ENSG00000136631.8 | ENST00000369130.3,ENST00000462852.1 |
| exon_skip_9641 | 1 | 150049746:150049857:150053423:150053558:150053965:150054079 | 150053423:150053558 | ENSG00000136631.8 | ENST00000535106.1,ENST00000369130.3,ENST00000369128.5,ENST00000419023.1,ENST00000477558.1 |
| exon_skip_9644 | 1 | 150053965:150054079:150054799:150054967:150064030:150064080 | 150054799:150054967 | ENSG00000136631.8 | ENST00000535106.1,ENST00000369130.3,ENST00000369128.5,ENST00000419023.1 |
| exon_skip_9647 | 1 | 150054799:150054967:150064030:150064189:150064395:150064503 | 150064030:150064189 | ENSG00000136631.8 | ENST00000535106.1,ENST00000369130.3,ENST00000369128.5 |
| exon_skip_9649 | 1 | 150064098:150064189:150064395:150064503:150065622:150065744 | 150064395:150064503 | ENSG00000136631.8 | ENST00000535106.1,ENST00000369130.3,ENST00000369128.5 |
| exon_skip_9650 | 1 | 150064395:150064503:150065622:150065744:150082610:150082742 | 150065622:150065744 | ENSG00000136631.8 | ENST00000369130.3,ENST00000369128.5 |
| exon_skip_9651 | 1 | 150065622:150065744:150070951:150071182:150082610:150082742 | 150070951:150071182 | ENSG00000136631.8 | ENST00000535106.1 |
| exon_skip_9652 | 1 | 150082610:150082742:150115015:150115109:150116886:150116900 | 150115015:150115109 | ENSG00000136631.8 | ENST00000369128.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for VPS45 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_9633 | 1 | 150039884:150040007:150040686:150040821:150044232:150044293 | 150040686:150040821 | ENSG00000136631.8 | ENST00000460366.1,ENST00000535106.1,ENST00000497638.1,ENST00000419023.1 |
| exon_skip_9634 | 1 | 150048310:150048390:150048993:150049062:150049171:150049309 | 150048993:150049062 | ENSG00000136631.8 | ENST00000369130.3,ENST00000462852.1 |
| exon_skip_9639 | 1 | 150048993:150049062:150049171:150049309:150049746:150049857 | 150049171:150049309 | ENSG00000136631.8 | ENST00000369130.3,ENST00000462852.1 |
| exon_skip_9641 | 1 | 150049746:150049857:150053423:150053558:150053965:150054079 | 150053423:150053558 | ENSG00000136631.8 | ENST00000369130.3,ENST00000369128.5,ENST00000535106.1,ENST00000419023.1,ENST00000477558.1 |
| exon_skip_9644 | 1 | 150053965:150054079:150054799:150054967:150064030:150064080 | 150054799:150054967 | ENSG00000136631.8 | ENST00000369130.3,ENST00000369128.5,ENST00000535106.1,ENST00000419023.1 |
| exon_skip_9647 | 1 | 150054799:150054967:150064030:150064189:150064395:150064503 | 150064030:150064189 | ENSG00000136631.8 | ENST00000369130.3,ENST00000369128.5,ENST00000535106.1 |
| exon_skip_9649 | 1 | 150064098:150064189:150064395:150064503:150065622:150065744 | 150064395:150064503 | ENSG00000136631.8 | ENST00000369130.3,ENST00000369128.5,ENST00000535106.1 |
| exon_skip_9650 | 1 | 150064395:150064503:150065622:150065744:150082610:150082742 | 150065622:150065744 | ENSG00000136631.8 | ENST00000369130.3,ENST00000369128.5 |
| exon_skip_9651 | 1 | 150065622:150065744:150070951:150071182:150082610:150082742 | 150070951:150071182 | ENSG00000136631.8 | ENST00000535106.1 |
| exon_skip_9652 | 1 | 150082610:150082742:150115015:150115109:150116886:150116900 | 150115015:150115109 | ENSG00000136631.8 | ENST00000369128.5 |
| 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 VPS45 |
| 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 |
| ENST00000369130 | 150065622 | 150065744 | Frame-shift |
| ENST00000369130 | 150048993 | 150049062 | In-frame |
| ENST00000369130 | 150049171 | 150049309 | In-frame |
| ENST00000369130 | 150053423 | 150053558 | In-frame |
| ENST00000369130 | 150054799 | 150054967 | In-frame |
| ENST00000369130 | 150064030 | 150064189 | In-frame |
| ENST00000369130 | 150064395 | 150064503 | 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 |
| ENST00000369130 | 150065622 | 150065744 | Frame-shift |
| ENST00000369130 | 150048993 | 150049062 | In-frame |
| ENST00000369130 | 150049171 | 150049309 | In-frame |
| ENST00000369130 | 150053423 | 150053558 | In-frame |
| ENST00000369130 | 150054799 | 150054967 | In-frame |
| ENST00000369130 | 150064030 | 150064189 | In-frame |
| ENST00000369130 | 150064395 | 150064503 | In-frame |
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Infer the effects of exon skipping event on protein functional features for VPS45 |
| 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 |
| ENST00000369130 | 2807 | 570 | 150048993 | 150049062 | 916 | 984 | 123 | 146 |
| ENST00000369130 | 2807 | 570 | 150049171 | 150049309 | 985 | 1122 | 146 | 192 |
| ENST00000369130 | 2807 | 570 | 150053423 | 150053558 | 1234 | 1368 | 229 | 274 |
| ENST00000369130 | 2807 | 570 | 150054799 | 150054967 | 1483 | 1650 | 312 | 368 |
| ENST00000369130 | 2807 | 570 | 150064030 | 150064189 | 1651 | 1809 | 368 | 421 |
| ENST00000369130 | 2807 | 570 | 150064395 | 150064503 | 1810 | 1917 | 421 | 457 |
| 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 |
| ENST00000369130 | 2807 | 570 | 150048993 | 150049062 | 916 | 984 | 123 | 146 |
| ENST00000369130 | 2807 | 570 | 150049171 | 150049309 | 985 | 1122 | 146 | 192 |
| ENST00000369130 | 2807 | 570 | 150053423 | 150053558 | 1234 | 1368 | 229 | 274 |
| ENST00000369130 | 2807 | 570 | 150054799 | 150054967 | 1483 | 1650 | 312 | 368 |
| ENST00000369130 | 2807 | 570 | 150064030 | 150064189 | 1651 | 1809 | 368 | 421 |
| ENST00000369130 | 2807 | 570 | 150064395 | 150064503 | 1810 | 1917 | 421 | 457 |
| 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 |
| Q9NRW7 | 123 | 146 | 124 | 192 | Alternative sequence | ID=VSP_056740;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 123 | 146 | 1 | 570 | Chain | ID=PRO_0000206312;Note=Vacuolar protein sorting-associated protein 45 |
| Q9NRW7 | 146 | 192 | 124 | 192 | Alternative sequence | ID=VSP_056740;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 146 | 192 | 1 | 570 | Chain | ID=PRO_0000206312;Note=Vacuolar protein sorting-associated protein 45 |
| Q9NRW7 | 146 | 192 | 163 | 163 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 146 | 192 | 188 | 188 | Sequence conflict | Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 229 | 274 | 1 | 570 | Chain | ID=PRO_0000206312;Note=Vacuolar protein sorting-associated protein 45 |
| Q9NRW7 | 229 | 274 | 238 | 238 | Natural variant | ID=VAR_069866;Note=In SCN5. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23738510;Dbxref=dbSNP:rs782269909,PMID:23738510 |
| Q9NRW7 | 229 | 274 | 241 | 241 | Sequence conflict | Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 312 | 368 | 1 | 570 | Chain | ID=PRO_0000206312;Note=Vacuolar protein sorting-associated protein 45 |
| Q9NRW7 | 368 | 421 | 1 | 570 | Chain | ID=PRO_0000206312;Note=Vacuolar protein sorting-associated protein 45 |
| Q9NRW7 | 368 | 421 | 370 | 370 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 368 | 421 | 385 | 385 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 368 | 421 | 407 | 408 | Sequence conflict | Note=MM->IV;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 368 | 421 | 412 | 412 | Sequence conflict | Note=N->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 368 | 421 | 412 | 412 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 368 | 421 | 416 | 416 | Sequence conflict | Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 421 | 457 | 1 | 570 | Chain | ID=PRO_0000206312;Note=Vacuolar protein sorting-associated protein 45 |
| Q9NRW7 | 421 | 457 | 441 | 441 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08700 |
| 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 |
| Q9NRW7 | 123 | 146 | 124 | 192 | Alternative sequence | ID=VSP_056740;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 123 | 146 | 1 | 570 | Chain | ID=PRO_0000206312;Note=Vacuolar protein sorting-associated protein 45 |
| Q9NRW7 | 146 | 192 | 124 | 192 | Alternative sequence | ID=VSP_056740;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 146 | 192 | 1 | 570 | Chain | ID=PRO_0000206312;Note=Vacuolar protein sorting-associated protein 45 |
| Q9NRW7 | 146 | 192 | 163 | 163 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 146 | 192 | 188 | 188 | Sequence conflict | Note=A->G;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 229 | 274 | 1 | 570 | Chain | ID=PRO_0000206312;Note=Vacuolar protein sorting-associated protein 45 |
| Q9NRW7 | 229 | 274 | 238 | 238 | Natural variant | ID=VAR_069866;Note=In SCN5. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23738510;Dbxref=dbSNP:rs782269909,PMID:23738510 |
| Q9NRW7 | 229 | 274 | 241 | 241 | Sequence conflict | Note=G->D;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 312 | 368 | 1 | 570 | Chain | ID=PRO_0000206312;Note=Vacuolar protein sorting-associated protein 45 |
| Q9NRW7 | 368 | 421 | 1 | 570 | Chain | ID=PRO_0000206312;Note=Vacuolar protein sorting-associated protein 45 |
| Q9NRW7 | 368 | 421 | 370 | 370 | Sequence conflict | Note=I->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 368 | 421 | 385 | 385 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 368 | 421 | 407 | 408 | Sequence conflict | Note=MM->IV;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 368 | 421 | 412 | 412 | Sequence conflict | Note=N->H;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 368 | 421 | 412 | 412 | Sequence conflict | Note=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 368 | 421 | 416 | 416 | Sequence conflict | Note=S->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9NRW7 | 421 | 457 | 1 | 570 | Chain | ID=PRO_0000206312;Note=Vacuolar protein sorting-associated protein 45 |
| Q9NRW7 | 421 | 457 | 441 | 441 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O08700 |
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SNVs in the skipped exons for VPS45 |
| - 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_9634 | 150048994 | 150049062 | 150049046 | 150049046 | Frame_Shift_Del | T | - | p.I141fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_9641 | 150053424 | 150053558 | 150053482 | 150053482 | Frame_Shift_Del | T | - | p.L249fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_9647 | 150064031 | 150064189 | 150064186 | 150064186 | Frame_Shift_Del | A | - | p.R420fs |
| BLCA | TCGA-2F-A9KO-01 | exon_skip_9641 | 150053424 | 150053558 | 150053426 | 150053426 | Nonsense_Mutation | G | A | p.W230* |
| CHOL | TCGA-4G-AAZO-01 | 150054800 | 150054967 | 150054917 | 150054917 | Nonsense_Mutation | G | T | p.E352X | |
| UCEC | TCGA-BG-A0M4-01 | exon_skip_9647 | 150064031 | 150064189 | 150064115 | 150064115 | Nonsense_Mutation | C | T | p.R397* |
| READ | TCGA-F5-6814-01 | exon_skip_9649 | 150064396 | 150064503 | 150064438 | 150064438 | Nonsense_Mutation | G | T | p.G436X |
| - 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 |
| H2369_PLEURA | 150040687 | 150040821 | 150040795 | 150040795 | Missense_Mutation | G | A | p.A68T |
| SNU175_LARGE_INTESTINE | 150048994 | 150049062 | 150049042 | 150049042 | Missense_Mutation | A | G | p.N140D |
| SCABER_URINARY_TRACT | 150048994 | 150049062 | 150049058 | 150049058 | Missense_Mutation | G | T | p.C145F |
| MEWO_SKIN | 150049172 | 150049309 | 150049215 | 150049215 | Missense_Mutation | G | A | p.G161E |
| HT115_LARGE_INTESTINE | 150053424 | 150053558 | 150053549 | 150053549 | Missense_Mutation | C | A | p.F271L |
| HT144_SKIN | 150054800 | 150054967 | 150054887 | 150054887 | Missense_Mutation | G | C | p.V342L |
| SNUC2A_LARGE_INTESTINE | 150054800 | 150054967 | 150054896 | 150054896 | Missense_Mutation | C | T | p.R345W |
| HUH1_LIVER | 150054800 | 150054967 | 150054954 | 150054954 | Missense_Mutation | C | T | p.S364F |
| SNU1040_LARGE_INTESTINE | 150064031 | 150064189 | 150064064 | 150064064 | Missense_Mutation | A | G | p.T380A |
| 22RV1_PROSTATE | 150064031 | 150064189 | 150064136 | 150064136 | Missense_Mutation | C | T | p.P404S |
| SNU1040_LARGE_INTESTINE | 150064031 | 150064189 | 150064185 | 150064185 | Missense_Mutation | G | A | p.R420Q |
| SKN3_UPPER_AERODIGESTIVE_TRACT | 150064396 | 150064503 | 150064430 | 150064430 | Missense_Mutation | G | A | p.R433Q |
| COGN305_AUTONOMIC_GANGLIA | 150064396 | 150064503 | 150064471 | 150064471 | Missense_Mutation | G | T | p.A447S |
| SCC4_UPPER_AERODIGESTIVE_TRACT | 150065623 | 150065744 | 150065639 | 150065639 | Missense_Mutation | A | G | p.Y463C |
| SNU1040_LARGE_INTESTINE | 150065623 | 150065744 | 150065725 | 150065725 | Missense_Mutation | C | T | p.P492S |
| NCIH630_LARGE_INTESTINE | 150064031 | 150064189 | 150064184 | 150064184 | Nonsense_Mutation | C | T | p.R420* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for VPS45 |
| 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 VPS45 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for VPS45 |
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RelatedDrugs for VPS45 |
| 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 VPS45 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| VPS45 | C1853118 | Severe congenital neutropenia | 1 | CTD_human |
| VPS45 | C2931351 | Familial myelofibrosis | 1 | CTD_human |
| VPS45 | C3809031 | NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE | 1 | ORPHANET;UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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