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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 MCOLN1 |
 Gene summary |
| Gene information | Gene symbol | MCOLN1 | Gene ID | 57192 |
| Gene name | mucolipin 1 | |
| Synonyms | MG-2|ML1|ML4|MLIV|MST080|MSTP080|TRP-ML1|TRPM-L1|TRPML1 | |
| Cytomap | 19p13.2 | |
| Type of gene | protein-coding | |
| Description | mucolipin-1mucolipidinmucolipidosis type IV proteintransient receptor potential channel mucolipin 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9GZU1 | |
| Context | PubMed: MCOLN1 [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 |
| MCOLN1 | GO:0051289 | protein homotetramerization | 29019983 |
| MCOLN1 | GO:0070588 | calcium ion transmembrane transport | 29019983 |
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Exon skipping events across known transcript of Ensembl for MCOLN1 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 MCOLN1 |
| 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 MCOLN1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_301294 | 19 | 7587572:7587667:7589846:7590052:7591324:7591492 | 7589846:7590052 | ENSG00000090674.11 | ENST00000601003.1,ENST00000394321.5 |
| exon_skip_301298 | 19 | 7591646:7591812:7592405:7592514:7592749:7592780 | 7592405:7592514 | ENSG00000090674.11 | ENST00000264079.6 |
| exon_skip_301300 | 19 | 7592749:7592846:7593043:7593143:7593482:7593589 | 7593043:7593143 | ENSG00000090674.11 | ENST00000264079.6,ENST00000394321.5 |
| exon_skip_301301 | 19 | 7593043:7593143:7593482:7593589:7593706:7593856 | 7593482:7593589 | ENSG00000090674.11 | ENST00000264079.6,ENST00000394321.5 |
| exon_skip_301303 | 19 | 7593986:7594088:7594475:7594598:7595171:7595286 | 7594475:7594598 | ENSG00000090674.11 | ENST00000264079.6,ENST00000595860.1,ENST00000594692.1,ENST00000394321.5 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MCOLN1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_301294 | 19 | 7587572:7587667:7589846:7590052:7591324:7591492 | 7589846:7590052 | ENSG00000090674.11 | ENST00000394321.5,ENST00000601003.1 |
| exon_skip_301298 | 19 | 7591646:7591812:7592405:7592514:7592749:7592780 | 7592405:7592514 | ENSG00000090674.11 | ENST00000264079.6 |
| exon_skip_301300 | 19 | 7592749:7592846:7593043:7593143:7593482:7593589 | 7593043:7593143 | ENSG00000090674.11 | ENST00000264079.6,ENST00000394321.5 |
| exon_skip_301301 | 19 | 7593043:7593143:7593482:7593589:7593706:7593856 | 7593482:7593589 | ENSG00000090674.11 | ENST00000264079.6,ENST00000394321.5 |
| exon_skip_301303 | 19 | 7593986:7594088:7594475:7594598:7595171:7595286 | 7594475:7594598 | ENSG00000090674.11 | ENST00000264079.6,ENST00000394321.5,ENST00000595860.1,ENST00000594692.1 |
| 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 MCOLN1 |
| 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 |
| ENST00000264079 | 7592405 | 7592514 | Frame-shift |
| ENST00000264079 | 7593043 | 7593143 | Frame-shift |
| ENST00000264079 | 7593482 | 7593589 | Frame-shift |
| ENST00000264079 | 7594475 | 7594598 | 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 |
| ENST00000264079 | 7592405 | 7592514 | Frame-shift |
| ENST00000264079 | 7593043 | 7593143 | Frame-shift |
| ENST00000264079 | 7593482 | 7593589 | Frame-shift |
| ENST00000264079 | 7594475 | 7594598 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MCOLN1 |
| 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 |
| ENST00000264079 | 2099 | 580 | 7594475 | 7594598 | 1362 | 1484 | 412 | 453 |
| 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 |
| ENST00000264079 | 2099 | 580 | 7594475 | 7594598 | 1362 | 1484 | 412 | 453 |
| 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 |
| Q9GZU1 | 412 | 453 | 1 | 580 | Chain | ID=PRO_0000215362;Note=Mucolipin-1 |
| Q9GZU1 | 412 | 453 | 411 | 415 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WJ9 |
| Q9GZU1 | 412 | 453 | 417 | 447 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WJ9 |
| Q9GZU1 | 412 | 453 | 432 | 432 | Mutagenesis | Note=Mediates localization to the plasma membrane and strong inwardly rectifying current. V->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18794901,ECO:0000269|PubMed:28112729;Dbxref=PMID:18794901,PMID:28112729 |
| Q9GZU1 | 412 | 453 | 446 | 446 | Natural variant | ID=VAR_019373;Note=In ML4%3B does not affect channel activity%3B affects channel inhibition by low pH%3B impairs Fe(2+) permeability. V->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11030752,ECO:0000269|PubMed:14749347,E |
| Q9GZU1 | 412 | 453 | 447 | 447 | Natural variant | ID=VAR_019374;Note=In ML4. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12182165;Dbxref=dbSNP:rs797044827,PMID:12182165 |
| Q9GZU1 | 412 | 453 | 406 | 427 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29019983;Dbxref=PMID:29019983 |
| Q9GZU1 | 412 | 453 | 449 | 456 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29019983;Dbxref=PMID:29019983 |
| Q9GZU1 | 412 | 453 | 428 | 448 | Transmembrane | Note=Helical%3B Name%3D5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29019983;Dbxref=PMID:29019983 |
| Q9GZU1 | 412 | 453 | 448 | 450 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WJ9 |
| 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 |
| Q9GZU1 | 412 | 453 | 1 | 580 | Chain | ID=PRO_0000215362;Note=Mucolipin-1 |
| Q9GZU1 | 412 | 453 | 411 | 415 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WJ9 |
| Q9GZU1 | 412 | 453 | 417 | 447 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WJ9 |
| Q9GZU1 | 412 | 453 | 432 | 432 | Mutagenesis | Note=Mediates localization to the plasma membrane and strong inwardly rectifying current. V->P;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:18794901,ECO:0000269|PubMed:28112729;Dbxref=PMID:18794901,PMID:28112729 |
| Q9GZU1 | 412 | 453 | 446 | 446 | Natural variant | ID=VAR_019373;Note=In ML4%3B does not affect channel activity%3B affects channel inhibition by low pH%3B impairs Fe(2+) permeability. V->L;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11030752,ECO:0000269|PubMed:14749347,E |
| Q9GZU1 | 412 | 453 | 447 | 447 | Natural variant | ID=VAR_019374;Note=In ML4. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12182165;Dbxref=dbSNP:rs797044827,PMID:12182165 |
| Q9GZU1 | 412 | 453 | 406 | 427 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29019983;Dbxref=PMID:29019983 |
| Q9GZU1 | 412 | 453 | 449 | 456 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29019983;Dbxref=PMID:29019983 |
| Q9GZU1 | 412 | 453 | 428 | 448 | Transmembrane | Note=Helical%3B Name%3D5;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:29019983;Dbxref=PMID:29019983 |
| Q9GZU1 | 412 | 453 | 448 | 450 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5WJ9 |
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SNVs in the skipped exons for MCOLN1 |
| - 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. |
MCOLN1_COAD_exon_skip_301298_psi_boxplot.png |
MCOLN1_STAD_exon_skip_301298_psi_boxplot.png |
| - 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-CN-A63U-01 | exon_skip_301294 | 7589847 | 7590052 | 7589876 | 7589876 | Frame_Shift_Del | G | - | p.G21fs |
| KIRC | TCGA-CJ-5672-01 | exon_skip_301294 | 7589847 | 7590052 | 7589957 | 7589957 | Frame_Shift_Del | T | - | p.Y47fs |
| COAD | TCGA-D5-6928-01 | exon_skip_301298 | 7592406 | 7592514 | 7592423 | 7592423 | Frame_Shift_Del | C | - | p.D196fs |
| STAD | TCGA-CG-4305-01 | exon_skip_301298 | 7592406 | 7592514 | 7592423 | 7592423 | Frame_Shift_Del | C | - | p.D196fs |
| COAD | TCGA-A6-6653-01 | exon_skip_301298 | 7592406 | 7592514 | 7592444 | 7592444 | Frame_Shift_Del | C | - | p.P203fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_301300 | 7593044 | 7593143 | 7593124 | 7593124 | Frame_Shift_Del | C | - | p.H286fs |
| SKCM | TCGA-D3-A1Q6-06 | exon_skip_301294 | 7589847 | 7590052 | 7589984 | 7589984 | Nonsense_Mutation | C | T | p.R57* |
| SKCM | TCGA-D3-A1Q6-06 | exon_skip_301294 | 7589847 | 7590052 | 7589984 | 7589984 | Nonsense_Mutation | C | T | p.R57X |
| CESC | TCGA-C5-A1BJ-01 | exon_skip_301301 | 7593483 | 7593589 | 7593569 | 7593569 | Nonsense_Mutation | C | T | p.R322* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_301300 | 7593044 | 7593143 | 7593144 | 7593144 | Splice_Site | G | A | e7+1 |
| GBM | TCGA-14-0862-01 | exon_skip_301301 | 7593483 | 7593589 | 7593590 | 7593590 | Splice_Site | G | A | p.N328_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CG-4305-01 |
| Cancer type: STAD | |
| ESID: exon_skip_301298 | |
| Skipped exon start: 7592406 | |
| Skipped exon end: 7592514 | |
| Mutation start: 7592423 | |
| Mutation end: 7592423 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.D196fs | |
exon_skip_111824_STAD_TCGA-CG-4305-01.png | |
exon_skip_111829_STAD_TCGA-CG-4305-01.png | |
exon_skip_146150_STAD_TCGA-CG-4305-01.png | |
exon_skip_290798_STAD_TCGA-CG-4305-01.png | |
exon_skip_301298_STAD_TCGA-CG-4305-01.png | |
exon_skip_306904_STAD_TCGA-CG-4305-01.png | |
exon_skip_331098_STAD_TCGA-CG-4305-01.png | |
exon_skip_340412_STAD_TCGA-CG-4305-01.png | |
exon_skip_340419_STAD_TCGA-CG-4305-01.png | |
exon_skip_361126_STAD_TCGA-CG-4305-01.png | |
exon_skip_382354_STAD_TCGA-CG-4305-01.png | |
exon_skip_423582_STAD_TCGA-CG-4305-01.png | |
exon_skip_45131_STAD_TCGA-CG-4305-01.png | |
exon_skip_45132_STAD_TCGA-CG-4305-01.png | |
exon_skip_6108_STAD_TCGA-CG-4305-01.png | |
exon_skip_64984_STAD_TCGA-CG-4305-01.png | |
| - 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 |
| EFO27_OVARY | 7589847 | 7590052 | 7589864 | 7589865 | Frame_Shift_Ins | - | C | p.T17fs |
| GP2D_LARGE_INTESTINE | 7592406 | 7592514 | 7592422 | 7592423 | Frame_Shift_Ins | - | C | p.P197fs |
| GP5D_LARGE_INTESTINE | 7592406 | 7592514 | 7592422 | 7592423 | Frame_Shift_Ins | - | C | p.P197fs |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7589847 | 7590052 | 7589879 | 7589879 | Missense_Mutation | T | C | p.Y22H |
| IM95_STOMACH | 7589847 | 7590052 | 7589931 | 7589931 | Missense_Mutation | A | G | p.E39G |
| HGC27_STOMACH | 7589847 | 7590052 | 7589965 | 7589965 | Missense_Mutation | G | A | p.M50I |
| NCIH835_LUNG | 7589847 | 7590052 | 7589997 | 7589997 | Missense_Mutation | G | A | p.R61H |
| JM1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7589847 | 7590052 | 7590005 | 7590005 | Missense_Mutation | T | C | p.C64R |
| M14_SKIN | 7592406 | 7592514 | 7592442 | 7592442 | Missense_Mutation | C | T | p.P203L |
| MDAMB435S_SKIN | 7592406 | 7592514 | 7592442 | 7592442 | Missense_Mutation | C | T | p.P203L |
| NCIH2869_PLEURA | 7593044 | 7593143 | 7593051 | 7593051 | Missense_Mutation | T | C | p.F262S |
| NB17_AUTONOMIC_GANGLIA | 7593044 | 7593143 | 7593071 | 7593071 | Missense_Mutation | G | A | p.G269R |
| KYSE150_OESOPHAGUS | 7593483 | 7593589 | 7593540 | 7593540 | Missense_Mutation | C | A | p.S312Y |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7594476 | 7594598 | 7594519 | 7594519 | Missense_Mutation | G | A | p.R427H |
| SNU1040_LARGE_INTESTINE | 7594476 | 7594598 | 7594561 | 7594561 | Missense_Mutation | T | C | p.F441S |
| SW48_LARGE_INTESTINE | 7594476 | 7594598 | 7594587 | 7594587 | Missense_Mutation | T | C | p.Y450H |
| SNUC5_LARGE_INTESTINE | 7593044 | 7593143 | 7593142 | 7593142 | Splice_Site | C | T | p.H292H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MCOLN1 |
| 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 MCOLN1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MCOLN1 |
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RelatedDrugs for MCOLN1 |
| 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 MCOLN1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MCOLN1 | C0238286 | Mucolipidosis Type IV | 4 | ORPHANET;UNIPROT |
| MCOLN1 | C0026697 | Mucolipidoses | 2 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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