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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 MAN1C1 |
 Gene summary |
| Gene information | Gene symbol | MAN1C1 | Gene ID | 57134 |
| Gene name | mannosidase alpha class 1C member 1 | |
| Synonyms | HMIC|MAN1A3|MAN1C|pp6318 | |
| Cytomap | 1p36.11 | |
| Type of gene | protein-coding | |
| Description | mannosyl-oligosaccharide 1,2-alpha-mannosidase IC1,2-alpha-mannosidase ICprocessing alpha-1,2-mannosidase IC | |
| Modification date | 20180523 | |
| UniProtAcc | Q9NR34 | |
| Context | PubMed: MAN1C1 [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 MAN1C1 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 MAN1C1 |
| 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 MAN1C1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2738 | 1 | 25944340:25944828:25980732:25980857:26012930:26013027 | 25980732:25980857 | ENSG00000117643.10 | ENST00000263979.3 |
| exon_skip_2747 | 1 | 26012992:26013027:26073158:26073274:26075745:26075826 | 26073158:26073274 | ENSG00000117643.10 | ENST00000263979.3,ENST00000374332.4,ENST00000473891.1 |
| exon_skip_2752 | 1 | 26073158:26073274:26075745:26075826:26079974:26080069 | 26075745:26075826 | ENSG00000117643.10 | ENST00000263979.3,ENST00000374329.1,ENST00000374332.4,ENST00000473891.1 |
| exon_skip_2754 | 1 | 26085082:26085200:26090364:26090458:26098147:26098263 | 26090364:26090458 | ENSG00000117643.10 | ENST00000263979.3,ENST00000374329.1,ENST00000374332.4 |
| exon_skip_2756 | 1 | 26090364:26090458:26098147:26098263:26104595:26104815 | 26098147:26098263 | ENSG00000117643.10 | ENST00000263979.3,ENST00000374329.1,ENST00000374332.4 |
| exon_skip_2760 | 1 | 26098147:26098263:26104595:26104815:26107430:26107603 | 26104595:26104815 | ENSG00000117643.10 | ENST00000263979.3,ENST00000374329.1,ENST00000374332.4 |
| exon_skip_2766 | 1 | 26098559:26098894:26102422:26102520:26104595:26104815 | 26102422:26102520 | ENSG00000117643.10 | ENST00000496532.1 |
| exon_skip_2767 | 1 | 26104595:26104815:26107430:26107603:26109075:26109191 | 26107430:26107603 | ENSG00000117643.10 | ENST00000263979.3,ENST00000374329.1,ENST00000475314.1,ENST00000374332.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MAN1C1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_2738 | 1 | 25944340:25944828:25980732:25980857:26012930:26013027 | 25980732:25980857 | ENSG00000117643.10 | ENST00000263979.3 |
| exon_skip_2747 | 1 | 26012992:26013027:26073158:26073274:26075745:26075826 | 26073158:26073274 | ENSG00000117643.10 | ENST00000374332.4,ENST00000263979.3,ENST00000473891.1 |
| exon_skip_2752 | 1 | 26073158:26073274:26075745:26075826:26079974:26080069 | 26075745:26075826 | ENSG00000117643.10 | ENST00000374332.4,ENST00000263979.3,ENST00000473891.1,ENST00000374329.1 |
| exon_skip_2754 | 1 | 26085082:26085200:26090364:26090458:26098147:26098263 | 26090364:26090458 | ENSG00000117643.10 | ENST00000374332.4,ENST00000263979.3,ENST00000374329.1 |
| exon_skip_2756 | 1 | 26090364:26090458:26098147:26098263:26104595:26104815 | 26098147:26098263 | ENSG00000117643.10 | ENST00000374332.4,ENST00000263979.3,ENST00000374329.1 |
| exon_skip_2760 | 1 | 26098147:26098263:26104595:26104815:26107430:26107603 | 26104595:26104815 | ENSG00000117643.10 | ENST00000374332.4,ENST00000263979.3,ENST00000374329.1 |
| exon_skip_2766 | 1 | 26098559:26098894:26102422:26102520:26104595:26104815 | 26102422:26102520 | ENSG00000117643.10 | ENST00000496532.1 |
| exon_skip_2767 | 1 | 26104595:26104815:26107430:26107603:26109075:26109191 | 26107430:26107603 | ENSG00000117643.10 | ENST00000374332.4,ENST00000263979.3,ENST00000374329.1,ENST00000475314.1 |
| 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 MAN1C1 |
| 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 |
| ENST00000374332 | 26073158 | 26073274 | Frame-shift |
| ENST00000374332 | 26090364 | 26090458 | Frame-shift |
| ENST00000374332 | 26098147 | 26098263 | Frame-shift |
| ENST00000374332 | 26104595 | 26104815 | Frame-shift |
| ENST00000374332 | 26107430 | 26107603 | Frame-shift |
| ENST00000374332 | 26075745 | 26075826 | 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 |
| ENST00000374332 | 26073158 | 26073274 | Frame-shift |
| ENST00000374332 | 26090364 | 26090458 | Frame-shift |
| ENST00000374332 | 26098147 | 26098263 | Frame-shift |
| ENST00000374332 | 26104595 | 26104815 | Frame-shift |
| ENST00000374332 | 26107430 | 26107603 | Frame-shift |
| ENST00000374332 | 26075745 | 26075826 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MAN1C1 |
| 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 |
| ENST00000374332 | 4658 | 630 | 26075745 | 26075826 | 1084 | 1164 | 251 | 278 |
| 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 |
| ENST00000374332 | 4658 | 630 | 26075745 | 26075826 | 1084 | 1164 | 251 | 278 |
| 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 |
| Q9NR34 | 251 | 278 | 1 | 630 | Chain | ID=PRO_0000210315;Note=Mannosyl-oligosaccharide 1%2C2-alpha-mannosidase IC |
| Q9NR34 | 251 | 278 | 44 | 630 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| Q9NR34 | 251 | 278 | 1 | 630 | Chain | ID=PRO_0000210315;Note=Mannosyl-oligosaccharide 1%2C2-alpha-mannosidase IC |
| Q9NR34 | 251 | 278 | 44 | 630 | Topological domain | Note=Lumenal;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for MAN1C1 |
| - 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_2747 | 26073159 | 26073274 | 26073241 | 26073241 | Frame_Shift_Del | G | - | p.K240fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_2760 | 26104596 | 26104815 | 26104629 | 26104629 | Frame_Shift_Del | G | - | p.G432fs |
| UCEC | TCGA-AP-A0LG-01 | exon_skip_2760 | 26104596 | 26104815 | 26104659 | 26104659 | Frame_Shift_Del | G | - | p.G441fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_2760 | 26104596 | 26104815 | 26104682 | 26104682 | Frame_Shift_Del | G | - | p.M448fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_2760 | 26104596 | 26104815 | 26104704 | 26104704 | Frame_Shift_Del | G | - | p.G457fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_2760 | 26104596 | 26104815 | 26104704 | 26104704 | Frame_Shift_Del | G | - | p.G457fs |
| STAD | TCGA-F1-6177-01 | exon_skip_2760 | 26104596 | 26104815 | 26104704 | 26104704 | Frame_Shift_Del | G | - | p.S455fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_2767 | 26107431 | 26107603 | 26107567 | 26107567 | Frame_Shift_Del | C | - | p.N538fs |
| STAD | TCGA-BR-4361-01 | exon_skip_2760 | 26104596 | 26104815 | 26104628 | 26104629 | Frame_Shift_Ins | - | G | p.P430fs |
| STAD | TCGA-CG-5726-01 | exon_skip_2760 | 26104596 | 26104815 | 26104628 | 26104629 | Frame_Shift_Ins | - | G | p.P430fs |
| STAD | TCGA-FP-A4BE-01 | exon_skip_2760 | 26104596 | 26104815 | 26104628 | 26104629 | Frame_Shift_Ins | - | G | p.P430fs |
| STAD | TCGA-BR-4361-01 | exon_skip_2760 | 26104596 | 26104815 | 26104629 | 26104630 | Frame_Shift_Ins | - | G | p.P430fs |
| STAD | TCGA-CG-5726-01 | exon_skip_2760 | 26104596 | 26104815 | 26104629 | 26104630 | Frame_Shift_Ins | - | G | p.P430fs |
| STAD | TCGA-FP-A4BE-01 | exon_skip_2760 | 26104596 | 26104815 | 26104629 | 26104630 | Frame_Shift_Ins | - | G | p.P430fs |
| BLCA | TCGA-FJ-A3Z7-01 | exon_skip_2747 | 26073159 | 26073274 | 26073233 | 26073233 | Nonsense_Mutation | G | T | p.E238* |
| UCEC | TCGA-D1-A176-01 | exon_skip_2756 | 26098148 | 26098263 | 26098157 | 26098157 | Nonsense_Mutation | C | G | p.S384* |
| READ | TCGA-AG-3580-01 | exon_skip_2767 | 26107431 | 26107603 | 26107553 | 26107553 | Nonsense_Mutation | C | T | p.R534X |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 26104596 | 26104815 | 26104614 | 26104614 | Frame_Shift_Del | C | - | p.L426fs |
| SHP77_LUNG | 26104596 | 26104815 | 26104635 | 26104635 | Frame_Shift_Del | C | - | p.L433fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 26104596 | 26104815 | 26104609 | 26104610 | Frame_Shift_Ins | - | T | p.YL424fs |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26104596 | 26104815 | 26104628 | 26104629 | Frame_Shift_Ins | - | G | p.G431fs |
| MFE319_ENDOMETRIUM | 26075746 | 26075826 | 26075777 | 26075777 | Missense_Mutation | T | C | p.I262T |
| NCIH1155_LUNG | 26075746 | 26075826 | 26075780 | 26075780 | Missense_Mutation | G | A | p.R263H |
| D502MG_CENTRAL_NERVOUS_SYSTEM | 26098148 | 26098263 | 26098225 | 26098225 | Missense_Mutation | G | C | p.D407H |
| MFE319_ENDOMETRIUM | 26104596 | 26104815 | 26104612 | 26104612 | Missense_Mutation | T | C | p.L425S |
| UW228_CENTRAL_NERVOUS_SYSTEM | 26104596 | 26104815 | 26104665 | 26104665 | Missense_Mutation | A | G | p.I443V |
| JEKO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26104596 | 26104815 | 26104716 | 26104716 | Missense_Mutation | G | A | p.A460T |
| NCIH513_PLEURA | 26104596 | 26104815 | 26104717 | 26104717 | Missense_Mutation | C | T | p.A460V |
| NCIH211_LUNG | 26107431 | 26107603 | 26107493 | 26107493 | Missense_Mutation | C | A | p.L514M |
| JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 26107431 | 26107603 | 26107502 | 26107502 | Missense_Mutation | A | G | p.S517G |
| T98G_CENTRAL_NERVOUS_SYSTEM | 26107431 | 26107603 | 26107569 | 26107570 | Missense_Mutation | CC | TT | p.P539L |
| TOV21G_OVARY | 26090365 | 26090458 | 26090458 | 26090458 | Splice_Site | C | T | p.H381Y |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MAN1C1 |
| 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 MAN1C1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MAN1C1 |
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RelatedDrugs for MAN1C1 |
| 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 MAN1C1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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