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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 SGMS1 |
 Gene summary |
| Gene information | Gene symbol | SGMS1 | Gene ID | 259230 |
| Gene name | sphingomyelin synthase 1 | |
| Synonyms | MOB|MOB1|SMS1|TMEM23|hmob33 | |
| Cytomap | 10q11.23 | |
| Type of gene | protein-coding | |
| Description | phosphatidylcholine:ceramide cholinephosphotransferase 1medulla oblongata-derived proteinprotein Mobtransmembrane protein 23 | |
| Modification date | 20180523 | |
| UniProtAcc | Q86VZ5 | |
| Context | PubMed: SGMS1 [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 |
| SGMS1 | GO:0006686 | sphingomyelin biosynthetic process | 14685263|14976195 |
| SGMS1 | GO:0046513 | ceramide biosynthetic process | 25605874 |
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Exon skipping events across known transcript of Ensembl for SGMS1 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 SGMS1 |
| 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 SGMS1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_49329 | 10 | 52066901:52067081:52067741:52067908:52071021:52071175 | 52067741:52067908 | ENSG00000198964.9 | ENST00000429490.1,ENST00000361781.2 |
| exon_skip_49330 | 10 | 52071122:52071175:52086964:52087082:52100146:52100224 | 52086964:52087082 | ENSG00000198964.9 | ENST00000602619.1 |
| exon_skip_49331 | 10 | 52071122:52071175:52086964:52087082:52103251:52104006 | 52086964:52087082 | ENSG00000198964.9 | ENST00000361781.2 |
| exon_skip_49342 | 10 | 52087037:52087082:52103251:52104105:52193235:52193316 | 52103251:52104105 | ENSG00000198964.9 | ENST00000361781.2 |
| exon_skip_49344 | 10 | 52100146:52100224:52101059:52101194:52103251:52104006 | 52101059:52101194 | ENSG00000198964.9 | ENST00000361543.2 |
| exon_skip_49345 | 10 | 52104030:52104105:52193235:52193316:52220432:52220574 | 52193235:52193316 | ENSG00000198964.9 | ENST00000609445.1,ENST00000361781.2 |
| exon_skip_49346 | 10 | 52193235:52193316:52220432:52220574:52226649:52226692 | 52220432:52220574 | ENSG00000198964.9 | ENST00000609445.1,ENST00000361781.2 |
| exon_skip_49349 | 10 | 52220432:52220574:52226649:52226692:52279590:52279681 | 52226649:52226692 | ENSG00000198964.9 | ENST00000609445.1,ENST00000608287.1,ENST00000361781.2 |
| exon_skip_49351 | 10 | 52226649:52226692:52279590:52279681:52349912:52350007 | 52279590:52279681 | ENSG00000198964.9 | ENST00000609445.1,ENST00000608287.1,ENST00000361781.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SGMS1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_49329 | 10 | 52066901:52067081:52067741:52067908:52071021:52071175 | 52067741:52067908 | ENSG00000198964.9 | ENST00000361781.2,ENST00000429490.1 |
| exon_skip_49330 | 10 | 52071122:52071175:52086964:52087082:52100146:52100224 | 52086964:52087082 | ENSG00000198964.9 | ENST00000602619.1 |
| exon_skip_49331 | 10 | 52071122:52071175:52086964:52087082:52103251:52104006 | 52086964:52087082 | ENSG00000198964.9 | ENST00000361781.2 |
| exon_skip_49342 | 10 | 52087037:52087082:52103251:52104105:52193235:52193316 | 52103251:52104105 | ENSG00000198964.9 | ENST00000361781.2 |
| exon_skip_49344 | 10 | 52100146:52100224:52101059:52101194:52103251:52104006 | 52101059:52101194 | ENSG00000198964.9 | ENST00000361543.2 |
| exon_skip_49345 | 10 | 52104030:52104105:52193235:52193316:52220432:52220574 | 52193235:52193316 | ENSG00000198964.9 | ENST00000361781.2,ENST00000609445.1 |
| exon_skip_49346 | 10 | 52193235:52193316:52220432:52220574:52226649:52226692 | 52220432:52220574 | ENSG00000198964.9 | ENST00000361781.2,ENST00000609445.1 |
| exon_skip_49349 | 10 | 52220432:52220574:52226649:52226692:52279590:52279681 | 52226649:52226692 | ENSG00000198964.9 | ENST00000361781.2,ENST00000609445.1,ENST00000608287.1 |
| exon_skip_49351 | 10 | 52226649:52226692:52279590:52279681:52349912:52350007 | 52279590:52279681 | ENSG00000198964.9 | ENST00000361781.2,ENST00000609445.1,ENST00000608287.1 |
| 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 SGMS1 |
| 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 |
| ENST00000361781 | 52103251 | 52104105 | 3UTR-3CDS |
| ENST00000361781 | 52193235 | 52193316 | 3UTR-3UTR |
| ENST00000361781 | 52220432 | 52220574 | 3UTR-3UTR |
| ENST00000361781 | 52226649 | 52226692 | 3UTR-3UTR |
| ENST00000361781 | 52279590 | 52279681 | 3UTR-3UTR |
| ENST00000361781 | 52067741 | 52067908 | Frame-shift |
| ENST00000361781 | 52086964 | 52087082 | Frame-shift |
| 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 |
| ENST00000361781 | 52103251 | 52104105 | 3UTR-3CDS |
| ENST00000361781 | 52193235 | 52193316 | 3UTR-3UTR |
| ENST00000361781 | 52220432 | 52220574 | 3UTR-3UTR |
| ENST00000361781 | 52226649 | 52226692 | 3UTR-3UTR |
| ENST00000361781 | 52279590 | 52279681 | 3UTR-3UTR |
| ENST00000361781 | 52067741 | 52067908 | Frame-shift |
| ENST00000361781 | 52086964 | 52087082 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for SGMS1 |
| 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 SGMS1 |
| - 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_49342 | 52103252 | 52104105 | 52103536 | 52103536 | Frame_Shift_Del | T | - | p.K113fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_49342 | 52103252 | 52104105 | 52103593 | 52103593 | Frame_Shift_Del | G | - | p.P94fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_49342 | 52103252 | 52104105 | 52103593 | 52103593 | Frame_Shift_Del | G | - | p.P94fs |
| STAD | TCGA-CG-5723-01 | exon_skip_49342 | 52103252 | 52104105 | 52103731 | 52103731 | Frame_Shift_Del | G | - | p.L49fs |
| SKCM | TCGA-D3-A8GI-06 | exon_skip_49329 | 52067742 | 52067908 | 52067767 | 52067767 | Nonsense_Mutation | C | T | p.W346* |
| SKCM | TCGA-EE-A3J7-06 | exon_skip_49329 | 52067742 | 52067908 | 52067877 | 52067877 | Nonsense_Mutation | C | T | p.W309* |
| SKCM | TCGA-EE-A3J7-06 | exon_skip_49329 | 52067742 | 52067908 | 52067877 | 52067877 | Nonsense_Mutation | C | T | p.W309X |
| HNSC | TCGA-QK-A6IG-01 | exon_skip_49329 | 52067742 | 52067908 | 52067886 | 52067886 | Nonsense_Mutation | C | T | p.W306* |
| LUAD | TCGA-05-4417-01 | exon_skip_49342 | 52103252 | 52104105 | 52103484 | 52103484 | Nonsense_Mutation | C | A | p.E131* |
| - 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 |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 52103252 | 52104105 | 52103731 | 52103731 | Frame_Shift_Del | G | - | p.P48fs |
| RS411_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52067742 | 52067908 | 52067803 | 52067803 | Missense_Mutation | A | G | p.V334A |
| HEC1_ENDOMETRIUM | 52067742 | 52067908 | 52067844 | 52067844 | Missense_Mutation | G | T | p.F320L |
| LOVO_LARGE_INTESTINE | 52067742 | 52067908 | 52067899 | 52067899 | Missense_Mutation | C | G | p.R302P |
| NCIH1573_LUNG | 52086965 | 52087082 | 52087005 | 52087005 | Missense_Mutation | G | A | p.T234I |
| EFO27_OVARY | 52086965 | 52087082 | 52087044 | 52087044 | Missense_Mutation | G | A | p.T221M |
| HEC251_ENDOMETRIUM | 52086965 | 52087082 | 52087080 | 52087080 | Missense_Mutation | G | T | p.S209Y |
| SNU81_LARGE_INTESTINE | 52086965 | 52087082 | 52087080 | 52087080 | Missense_Mutation | G | T | p.S209Y |
| KNS62_LUNG | 52101060 | 52101194 | 52101169 | 52101169 | Missense_Mutation | C | T | p.V217I |
| A375_SKIN | 52101060 | 52101194 | 52101181 | 52101181 | Missense_Mutation | C | T | p.E213K |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 52103252 | 52104105 | 52103277 | 52103277 | Missense_Mutation | T | A | p.I200F |
| LIM1215_LARGE_INTESTINE | 52103252 | 52104105 | 52103340 | 52103340 | Missense_Mutation | G | A | p.R179W |
| HEC108_ENDOMETRIUM | 52103252 | 52104105 | 52103394 | 52103394 | Missense_Mutation | G | A | p.P161S |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52103252 | 52104105 | 52103405 | 52103405 | Missense_Mutation | T | C | p.H157R |
| A3KAW_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52103252 | 52104105 | 52103414 | 52103414 | Missense_Mutation | G | A | p.S154L |
| HS737T_FIBROBLAST | 52103252 | 52104105 | 52103505 | 52103505 | Missense_Mutation | C | G | p.E124Q |
| SNU324_PANCREAS | 52103252 | 52104105 | 52103553 | 52103553 | Missense_Mutation | G | A | p.P108S |
| TEN_ENDOMETRIUM | 52103252 | 52104105 | 52103640 | 52103640 | Missense_Mutation | C | T | p.G79S |
| SNU1040_LARGE_INTESTINE | 52103252 | 52104105 | 52103700 | 52103700 | Missense_Mutation | G | A | p.R59W |
| PECAPJ49_UPPER_AERODIGESTIVE_TRACT | 52103252 | 52104105 | 52103717 | 52103717 | Missense_Mutation | G | A | p.S53F |
| ISTMEL1_SKIN | 52103252 | 52104105 | 52103723 | 52103723 | Missense_Mutation | C | A | p.R51L |
| NUGC3_STOMACH | 52103252 | 52104105 | 52103736 | 52103736 | Missense_Mutation | G | T | p.P47T |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 52103252 | 52104105 | 52103748 | 52103748 | Missense_Mutation | C | T | p.D43N |
| DU145_PROSTATE | 52103252 | 52104105 | 52103816 | 52103816 | Missense_Mutation | G | A | p.A20V |
| MIAPACA2_PANCREAS | 52103252 | 52104105 | 52103484 | 52103484 | Nonsense_Mutation | C | A | p.E131* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SGMS1 |
| 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 SGMS1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SGMS1 |
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RelatedDrugs for SGMS1 |
| 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 SGMS1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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