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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 SEMA6C |
 Gene summary |
| Gene information | Gene symbol | SEMA6C | Gene ID | 10500 |
| Gene name | semaphorin 6C | |
| Synonyms | SEMAY|m-SemaY|m-SemaY2 | |
| Cytomap | 1q21.3 | |
| Type of gene | protein-coding | |
| Description | semaphorin-6Csema Ysema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6Csemaphorin-Y | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H3T2 | |
| Context | PubMed: SEMA6C [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 SEMA6C 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 SEMA6C |
| 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 SEMA6C |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_30597 | 1 | 151104182:151105993:151106435:151106531:151106876:151106921 | 151106435:151106531 | ENSG00000143434.11 | ENST00000368912.3,ENST00000368913.3 |
| exon_skip_30600 | 1 | 151107273:151107351:151107638:151107785:151108066:151108240 | 151107638:151107785 | ENSG00000143434.11 | ENST00000341697.3,ENST00000368914.3,ENST00000368912.3,ENST00000368913.3 |
| exon_skip_30603 | 1 | 151107638:151107785:151108066:151108240:151108486:151108554 | 151108066:151108240 | ENSG00000143434.11 | ENST00000341697.3,ENST00000368914.3,ENST00000368912.3,ENST00000368913.3 |
| exon_skip_30605 | 1 | 151108486:151108639:151108923:151109055:151109332:151109403 | 151108923:151109055 | ENSG00000143434.11 | ENST00000341697.3,ENST00000368914.3,ENST00000368912.3,ENST00000368913.3 |
| exon_skip_30608 | 1 | 151110187:151110275:151110461:151110581:151110791:151110882 | 151110461:151110581 | ENSG00000143434.11 | ENST00000341697.3,ENST00000368914.3,ENST00000368913.3 |
| exon_skip_30610 | 1 | 151110484:151110581:151110791:151110882:151111105:151111159 | 151110791:151110882 | ENSG00000143434.11 | ENST00000341697.3,ENST00000368914.3,ENST00000368913.3 |
| exon_skip_30613 | 1 | 151110484:151110581:151111105:151111207:151111900:151111937 | 151111105:151111207 | ENSG00000143434.11 | ENST00000485745.1 |
| exon_skip_30615 | 1 | 151110791:151110882:151111105:151111207:151111900:151111937 | 151111105:151111207 | ENSG00000143434.11 | ENST00000341697.3,ENST00000368914.3,ENST00000368912.3,ENST00000368913.3 |
| exon_skip_30616 | 1 | 151111900:151111957:151112113:151112177:151112451:151112566 | 151112113:151112177 | ENSG00000143434.11 | ENST00000341697.3,ENST00000368914.3,ENST00000368912.3,ENST00000368913.3 |
| exon_skip_30617 | 1 | 151112113:151112177:151112451:151112566:151114979:151115151 | 151112451:151112566 | ENSG00000143434.11 | ENST00000341697.3,ENST00000368914.3,ENST00000368912.3,ENST00000368913.3 |
| exon_skip_30621 | 1 | 151112451:151112566:151114979:151115151:151116860:151116884 | 151114979:151115151 | ENSG00000143434.11 | ENST00000341697.3,ENST00000368914.3,ENST00000368912.3,ENST00000368913.3 |
| exon_skip_30630 | 1 | 151114979:151115151:151116860:151116910:151118908:151118933 | 151116860:151116910 | ENSG00000143434.11 | ENST00000368914.3,ENST00000368912.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SEMA6C |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_30597 | 1 | 151104182:151105993:151106435:151106531:151106876:151106921 | 151106435:151106531 | ENSG00000143434.11 | ENST00000368913.3,ENST00000368912.3 |
| exon_skip_30600 | 1 | 151107273:151107351:151107638:151107785:151108066:151108240 | 151107638:151107785 | ENSG00000143434.11 | ENST00000368913.3,ENST00000368912.3,ENST00000368914.3,ENST00000341697.3 |
| exon_skip_30603 | 1 | 151107638:151107785:151108066:151108240:151108486:151108554 | 151108066:151108240 | ENSG00000143434.11 | ENST00000368913.3,ENST00000368912.3,ENST00000368914.3,ENST00000341697.3 |
| exon_skip_30605 | 1 | 151108486:151108639:151108923:151109055:151109332:151109403 | 151108923:151109055 | ENSG00000143434.11 | ENST00000368913.3,ENST00000368912.3,ENST00000368914.3,ENST00000341697.3 |
| exon_skip_30608 | 1 | 151110187:151110275:151110461:151110581:151110791:151110882 | 151110461:151110581 | ENSG00000143434.11 | ENST00000368913.3,ENST00000368914.3,ENST00000341697.3 |
| exon_skip_30610 | 1 | 151110484:151110581:151110791:151110882:151111105:151111159 | 151110791:151110882 | ENSG00000143434.11 | ENST00000368913.3,ENST00000368914.3,ENST00000341697.3 |
| exon_skip_30613 | 1 | 151110484:151110581:151111105:151111207:151111900:151111937 | 151111105:151111207 | ENSG00000143434.11 | ENST00000485745.1 |
| exon_skip_30615 | 1 | 151110791:151110882:151111105:151111207:151111900:151111937 | 151111105:151111207 | ENSG00000143434.11 | ENST00000368913.3,ENST00000368912.3,ENST00000368914.3,ENST00000341697.3 |
| exon_skip_30616 | 1 | 151111900:151111957:151112113:151112177:151112451:151112566 | 151112113:151112177 | ENSG00000143434.11 | ENST00000368913.3,ENST00000368912.3,ENST00000368914.3,ENST00000341697.3 |
| exon_skip_30617 | 1 | 151112113:151112177:151112451:151112566:151114979:151115151 | 151112451:151112566 | ENSG00000143434.11 | ENST00000368913.3,ENST00000368912.3,ENST00000368914.3,ENST00000341697.3 |
| exon_skip_30621 | 1 | 151112451:151112566:151114979:151115151:151116860:151116884 | 151114979:151115151 | ENSG00000143434.11 | ENST00000368913.3,ENST00000368912.3,ENST00000368914.3,ENST00000341697.3 |
| exon_skip_30630 | 1 | 151114979:151115151:151116860:151116910:151118908:151118933 | 151116860:151116910 | ENSG00000143434.11 | ENST00000368912.3,ENST00000368914.3 |
| 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 SEMA6C |
| 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 |
| ENST00000341697 | 151114979 | 151115151 | 3UTR-3CDS |
| ENST00000341697 | 151110791 | 151110882 | Frame-shift |
| ENST00000341697 | 151112113 | 151112177 | Frame-shift |
| ENST00000341697 | 151112451 | 151112566 | Frame-shift |
| ENST00000341697 | 151107638 | 151107785 | In-frame |
| ENST00000341697 | 151108066 | 151108240 | In-frame |
| ENST00000341697 | 151108923 | 151109055 | In-frame |
| ENST00000341697 | 151110461 | 151110581 | In-frame |
| ENST00000341697 | 151111105 | 151111207 | 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 |
| ENST00000341697 | 151114979 | 151115151 | 3UTR-3CDS |
| ENST00000341697 | 151110791 | 151110882 | Frame-shift |
| ENST00000341697 | 151112113 | 151112177 | Frame-shift |
| ENST00000341697 | 151112451 | 151112566 | Frame-shift |
| ENST00000341697 | 151107638 | 151107785 | In-frame |
| ENST00000341697 | 151108066 | 151108240 | In-frame |
| ENST00000341697 | 151108923 | 151109055 | In-frame |
| ENST00000341697 | 151110461 | 151110581 | In-frame |
| ENST00000341697 | 151111105 | 151111207 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SEMA6C |
| 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 |
| ENST00000341697 | 5279 | 930 | 151111105 | 151111207 | 2047 | 2148 | 118 | 152 |
| ENST00000341697 | 5279 | 930 | 151110461 | 151110581 | 2240 | 2359 | 182 | 222 |
| ENST00000341697 | 5279 | 930 | 151108923 | 151109055 | 2667 | 2798 | 325 | 368 |
| ENST00000341697 | 5279 | 930 | 151108066 | 151108240 | 2952 | 3125 | 420 | 477 |
| ENST00000341697 | 5279 | 930 | 151107638 | 151107785 | 3126 | 3272 | 478 | 526 |
| 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 |
| ENST00000341697 | 5279 | 930 | 151111105 | 151111207 | 2047 | 2148 | 118 | 152 |
| ENST00000341697 | 5279 | 930 | 151110461 | 151110581 | 2240 | 2359 | 182 | 222 |
| ENST00000341697 | 5279 | 930 | 151108923 | 151109055 | 2667 | 2798 | 325 | 368 |
| ENST00000341697 | 5279 | 930 | 151108066 | 151108240 | 2952 | 3125 | 420 | 477 |
| ENST00000341697 | 5279 | 930 | 151107638 | 151107785 | 3126 | 3272 | 478 | 526 |
| 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 SEMA6C |
| - 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. |
SEMA6C_LUAD_exon_skip_30610_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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_30600 | 151107639 | 151107785 | 151107697 | 151107697 | Frame_Shift_Del | A | - | p.S508fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_30603 | 151108067 | 151108240 | 151108115 | 151108115 | Frame_Shift_Del | C | - | p.G462fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_30605 | 151108924 | 151109055 | 151108926 | 151108926 | Frame_Shift_Del | G | - | p.P368fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_30610 | 151110792 | 151110882 | 151110829 | 151110829 | Frame_Shift_Del | G | - | p.P170fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_30621 | 151114980 | 151115151 | 151115007 | 151115007 | Frame_Shift_Del | G | - | p.L31fs |
| LUSC | TCGA-66-2768-01 | exon_skip_30600 | 151107639 | 151107785 | 151107754 | 151107754 | Nonsense_Mutation | G | A | p.R489* |
| LUAD | TCGA-91-8499-01 | exon_skip_30610 | 151110792 | 151110882 | 151110864 | 151110864 | Nonsense_Mutation | C | A | p.E159* |
| LIHC | TCGA-NI-A8LF-01 | exon_skip_30613 exon_skip_30615 | 151111106 | 151111207 | 151111134 | 151111134 | Nonsense_Mutation | G | T | p.S143X |
| COAD | TCGA-G4-6586-01 | exon_skip_30621 | 151114980 | 151115151 | 151115031 | 151115031 | Nonsense_Mutation | G | A | p.Q23X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-91-8499-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_30610 | |
| Skipped exon start: 151110792 | |
| Skipped exon end: 151110882 | |
| Mutation start: 151110864 | |
| Mutation end: 151110864 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: p.E159* | |
exon_skip_302901_LUAD_TCGA-91-8499-01.png | |
exon_skip_30610_LUAD_TCGA-91-8499-01.png | |
exon_skip_457111_LUAD_TCGA-91-8499-01.png | |
exon_skip_457115_LUAD_TCGA-91-8499-01.png | |
exon_skip_61768_LUAD_TCGA-91-8499-01.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 |
| SW48_LARGE_INTESTINE | 151107639 | 151107785 | 151107706 | 151107707 | Frame_Shift_Ins | - | A | p.V505fs |
| HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151107639 | 151107785 | 151107711 | 151107711 | Missense_Mutation | A | G | p.L503P |
| TK10_KIDNEY | 151108067 | 151108240 | 151108119 | 151108119 | Missense_Mutation | C | T | p.G461R |
| SBC5_LUNG | 151108067 | 151108240 | 151108199 | 151108199 | Missense_Mutation | G | A | p.P434L |
| CAMA1_BREAST | 151108067 | 151108240 | 151108217 | 151108217 | Missense_Mutation | A | G | p.V428A |
| NB1_AUTONOMIC_GANGLIA | 151108067 | 151108240 | 151108224 | 151108224 | Missense_Mutation | C | G | p.V426L |
| SNUC5_LARGE_INTESTINE | 151108924 | 151109055 | 151109002 | 151109002 | Missense_Mutation | A | G | p.F343S |
| KYSE220_OESOPHAGUS | 151108924 | 151109055 | 151109005 | 151109005 | Missense_Mutation | C | T | p.G342E |
| SNU175_LARGE_INTESTINE | 151108924 | 151109055 | 151109009 | 151109009 | Missense_Mutation | G | A | p.R341C |
| HPAC_PANCREAS | 151108924 | 151109055 | 151109033 | 151109033 | Missense_Mutation | C | T | p.A333T |
| HO1U1_UPPER_AERODIGESTIVE_TRACT | 151108924 | 151109055 | 151109033 | 151109033 | Missense_Mutation | C | T | p.A333T |
| IALM_LUNG | 151108924 | 151109055 | 151109047 | 151109047 | Missense_Mutation | C | A | p.G328V |
| MFM223_BREAST | 151110462 | 151110581 | 151110471 | 151110471 | Missense_Mutation | A | C | p.W220G |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151110462 | 151110581 | 151110494 | 151110494 | Missense_Mutation | C | T | p.R212H |
| KM12_LARGE_INTESTINE | 151110462 | 151110581 | 151110557 | 151110557 | Missense_Mutation | G | A | p.A191V |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151110792 | 151110882 | 151110808 | 151110809 | Missense_Mutation | GT | AG | p.N177T |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151110792 | 151110882 | 151110809 | 151110809 | Missense_Mutation | T | C | p.N177S |
| NCIH1734_LUNG | 151110792 | 151110882 | 151110815 | 151110815 | Missense_Mutation | T | A | p.Q175L |
| SARC9371_BONE | 151110792 | 151110882 | 151110875 | 151110875 | Missense_Mutation | G | A | p.S155L |
| IGR1_SKIN | 151111106 | 151111207 | 151111134 | 151111134 | Missense_Mutation | G | A | p.S143L |
| MCC26_SKIN | 151111106 | 151111207 | 151111153 | 151111153 | Missense_Mutation | G | A | p.L137F |
| SNU626_CENTRAL_NERVOUS_SYSTEM | 151112114 | 151112177 | 151112125 | 151112125 | Missense_Mutation | C | T | p.V96M |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 151112114 | 151112177 | 151112146 | 151112146 | Missense_Mutation | C | G | p.E89Q |
| KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151114980 | 151115151 | 151115011 | 151115011 | Missense_Mutation | G | T | p.D29E |
| HS695T_SKIN | 151114980 | 151115151 | 151115019 | 151115019 | Missense_Mutation | G | A | p.P27S |
| OVSAHO_OVARY | 151114980 | 151115151 | 151115082 | 151115082 | Missense_Mutation | G | T | p.H6N |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 151110462 | 151110581 | 151110463 | 151110463 | Splice_Site | T | A | p.R222R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SEMA6C |
| 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 |
| exon_skip_30603 | 1 | 151107638:151107785:151108066:151108240:151108486:151108554 | 151108066:151108240 | ENST00000341697.3,ENST00000368914.3,ENST00000368912.3,ENST00000368913.3 | OV | rs4971007 | chr1:151108137 | T/G | 9.79e-04 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SEMA6C |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SEMA6C |
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RelatedDrugs for SEMA6C |
| 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 SEMA6C |
| 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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