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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 C1S |
 Gene summary |
| Gene information | Gene symbol | C1S | Gene ID | 716 |
| Gene name | complement C1s | |
| Synonyms | EDSPD2 | |
| Cytomap | 12p13.31 | |
| Type of gene | protein-coding | |
| Description | complement C1s subcomponentC1 esterasebasic proline-rich peptide IB-1complement component 1 subcomponent scomplement component 1, s subcomponent | |
| Modification date | 20180523 | |
| UniProtAcc | P09871 | |
| Context | PubMed: C1S [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 C1S 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 C1S |
| 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 C1S |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_79897 | 12 | 7150264:7150432:7163344:7163501:7169142:7169221 | 7163344:7163501 | ENSG00000182326.10 | ENST00000406697.1 |
| exon_skip_79899 | 12 | 7168047:7168181:7169055:7169095:7170193:7170282 | 7169055:7169095 | ENSG00000182326.10 | ENST00000541647.1 |
| exon_skip_79900 | 12 | 7168047:7168181:7169055:7169221:7170193:7170282 | 7169055:7169221 | ENSG00000182326.10 | ENST00000402681.3 |
| exon_skip_79905 | 12 | 7169142:7169221:7169778:7169986:7170193:7170282 | 7169778:7169986 | ENSG00000182326.10 | ENST00000406697.1,ENST00000328916.3,ENST00000413211.1,ENST00000360817.5,ENST00000403949.1,ENST00000423384.1,ENST00000443875.1 |
| exon_skip_79910 | 12 | 7170193:7170371:7171570:7171696:7172403:7172482 | 7171570:7171696 | ENSG00000182326.10 | ENST00000406697.1,ENST00000328916.3,ENST00000360817.5,ENST00000443875.1,ENST00000402681.3,ENST00000541647.1 |
| exon_skip_79914 | 12 | 7173120:7173274:7173821:7173937:7174342:7174421 | 7173821:7173937 | ENSG00000182326.10 | ENST00000406697.1,ENST00000328916.3,ENST00000360817.5,ENST00000402681.3 |
| exon_skip_79917 | 12 | 7173821:7173937:7174312:7174421:7174946:7174966 | 7174312:7174421 | ENSG00000182326.10 | ENST00000443875.1 |
| exon_skip_79918 | 12 | 7173821:7173937:7174342:7174421:7174946:7174966 | 7174342:7174421 | ENSG00000182326.10 | ENST00000406697.1,ENST00000328916.3,ENST00000470326.1,ENST00000360817.5,ENST00000402681.3 |
| exon_skip_79922 | 12 | 7175759:7175834:7175922:7176137:7177158:7177417 | 7175922:7176137 | ENSG00000182326.10 | ENST00000495061.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for C1S |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_79897 | 12 | 7150264:7150432:7163344:7163501:7169142:7169221 | 7163344:7163501 | ENSG00000182326.10 | ENST00000406697.1 |
| exon_skip_79899 | 12 | 7168047:7168181:7169055:7169095:7170193:7170282 | 7169055:7169095 | ENSG00000182326.10 | ENST00000541647.1 |
| exon_skip_79900 | 12 | 7168047:7168181:7169055:7169221:7170193:7170282 | 7169055:7169221 | ENSG00000182326.10 | ENST00000402681.3 |
| exon_skip_79905 | 12 | 7169142:7169221:7169778:7169986:7170193:7170282 | 7169778:7169986 | ENSG00000182326.10 | ENST00000406697.1,ENST00000328916.3,ENST00000360817.5,ENST00000423384.1,ENST00000413211.1,ENST00000403949.1,ENST00000443875.1 |
| exon_skip_79910 | 12 | 7170193:7170371:7171570:7171696:7172403:7172482 | 7171570:7171696 | ENSG00000182326.10 | ENST00000406697.1,ENST00000328916.3,ENST00000360817.5,ENST00000402681.3,ENST00000541647.1,ENST00000443875.1 |
| exon_skip_79914 | 12 | 7173120:7173274:7173821:7173937:7174342:7174421 | 7173821:7173937 | ENSG00000182326.10 | ENST00000406697.1,ENST00000328916.3,ENST00000360817.5,ENST00000402681.3 |
| exon_skip_79917 | 12 | 7173821:7173937:7174312:7174421:7174946:7174966 | 7174312:7174421 | ENSG00000182326.10 | ENST00000443875.1 |
| exon_skip_79918 | 12 | 7173821:7173937:7174342:7174421:7174946:7174966 | 7174342:7174421 | ENSG00000182326.10 | ENST00000406697.1,ENST00000328916.3,ENST00000360817.5,ENST00000402681.3,ENST00000470326.1 |
| exon_skip_79922 | 12 | 7175759:7175834:7175922:7176137:7177158:7177417 | 7175922:7176137 | ENSG00000182326.10 | ENST00000495061.1 |
| 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 C1S |
| 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 |
| ENST00000406697 | 7163344 | 7163501 | 5UTR-5UTR |
| ENST00000328916 | 7169778 | 7169986 | Frame-shift |
| ENST00000360817 | 7169778 | 7169986 | Frame-shift |
| ENST00000406697 | 7169778 | 7169986 | Frame-shift |
| ENST00000328916 | 7173821 | 7173937 | Frame-shift |
| ENST00000360817 | 7173821 | 7173937 | Frame-shift |
| ENST00000406697 | 7173821 | 7173937 | Frame-shift |
| ENST00000328916 | 7174342 | 7174421 | Frame-shift |
| ENST00000360817 | 7174342 | 7174421 | Frame-shift |
| ENST00000406697 | 7174342 | 7174421 | Frame-shift |
| ENST00000328916 | 7171570 | 7171696 | In-frame |
| ENST00000360817 | 7171570 | 7171696 | In-frame |
| ENST00000406697 | 7171570 | 7171696 | 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 |
| ENST00000406697 | 7163344 | 7163501 | 5UTR-5UTR |
| ENST00000328916 | 7169778 | 7169986 | Frame-shift |
| ENST00000360817 | 7169778 | 7169986 | Frame-shift |
| ENST00000406697 | 7169778 | 7169986 | Frame-shift |
| ENST00000328916 | 7173821 | 7173937 | Frame-shift |
| ENST00000360817 | 7173821 | 7173937 | Frame-shift |
| ENST00000406697 | 7173821 | 7173937 | Frame-shift |
| ENST00000328916 | 7174342 | 7174421 | Frame-shift |
| ENST00000360817 | 7174342 | 7174421 | Frame-shift |
| ENST00000406697 | 7174342 | 7174421 | Frame-shift |
| ENST00000328916 | 7171570 | 7171696 | In-frame |
| ENST00000360817 | 7171570 | 7171696 | In-frame |
| ENST00000406697 | 7171570 | 7171696 | In-frame |
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Infer the effects of exon skipping event on protein functional features for C1S |
| 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 |
| ENST00000328916 | 2989 | 688 | 7171570 | 7171696 | 916 | 1041 | 130 | 172 |
| ENST00000360817 | 2652 | 688 | 7171570 | 7171696 | 668 | 793 | 130 | 172 |
| ENST00000406697 | 3093 | 688 | 7171570 | 7171696 | 1020 | 1145 | 130 | 172 |
| 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 |
| ENST00000328916 | 2989 | 688 | 7171570 | 7171696 | 916 | 1041 | 130 | 172 |
| ENST00000360817 | 2652 | 688 | 7171570 | 7171696 | 668 | 793 | 130 | 172 |
| ENST00000406697 | 3093 | 688 | 7171570 | 7171696 | 1020 | 1145 | 130 | 172 |
| 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 C1S |
| - 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. |
C1S_PAAD_exon_skip_79905_psi_boxplot.png |
C1S_SKCM_exon_skip_79905_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_79905 | 7169779 | 7169986 | 7169792 | 7169792 | Frame_Shift_Del | T | - | p.F7fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_79910 | 7171571 | 7171696 | 7171636 | 7171636 | Frame_Shift_Del | G | - | p.G153fs |
| BLCA | TCGA-ZF-AA4W-01 | exon_skip_79910 | 7171571 | 7171696 | 7171653 | 7171653 | Frame_Shift_Del | C | - | p.C158fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_79914 | 7173822 | 7173937 | 7173848 | 7173848 | Frame_Shift_Del | C | - | p.P300fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_79914 | 7173822 | 7173937 | 7173920 | 7173920 | Frame_Shift_Del | G | - | p.G324fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_79917 exon_skip_79918 | 7174313 | 7174421 | 7174390 | 7174390 | Frame_Shift_Del | A | - | p.G345fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_79917 exon_skip_79918 | 7174343 | 7174421 | 7174390 | 7174390 | Frame_Shift_Del | A | - | p.G345fs |
| HNSC | TCGA-CR-5250-01 | exon_skip_79910 | 7171571 | 7171696 | 7171652 | 7171653 | Frame_Shift_Ins | - | C | p.S158fs |
| LUAD | TCGA-17-Z017-01 | exon_skip_79910 | 7171571 | 7171696 | 7171652 | 7171653 | Frame_Shift_Ins | - | C | p.S158fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_79910 | 7171571 | 7171696 | 7171652 | 7171653 | Frame_Shift_Ins | - | C | p.C158fs |
| UCEC | TCGA-BG-A0M0-01 | exon_skip_79910 | 7171571 | 7171696 | 7171652 | 7171653 | Frame_Shift_Ins | - | C | p.C158fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_79910 | 7171571 | 7171696 | 7171652 | 7171653 | Frame_Shift_Ins | - | C | p.C158fs |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_79910 | 7171571 | 7171696 | 7171652 | 7171653 | Frame_Shift_Ins | - | C | p.C158fs |
| SKCM | TCGA-D9-A4Z3-01 | exon_skip_79905 | 7169779 | 7169986 | 7169808 | 7169808 | Nonsense_Mutation | G | A | p.W12* |
| SKCM | TCGA-D9-A4Z3-01 | exon_skip_79905 | 7169779 | 7169986 | 7169808 | 7169808 | Nonsense_Mutation | G | A | p.W12X |
| PAAD | TCGA-IB-7651-01 | exon_skip_79905 | 7169779 | 7169986 | 7169900 | 7169900 | Nonsense_Mutation | G | T | p.E43* |
| PAAD | TCGA-IB-7651-01 | exon_skip_79905 | 7169779 | 7169986 | 7169900 | 7169900 | Nonsense_Mutation | G | T | p.E43X |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-IB-7651-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_79905 | |
| Skipped exon start: 7169779 | |
| Skipped exon end: 7169986 | |
| Mutation start: 7169900 | |
| Mutation end: 7169900 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E43X | |
| Sample: TCGA-IB-7651-01 |
| Cancer type: PAAD | |
| ESID: exon_skip_79905 | |
| Skipped exon start: 7169779 | |
| Skipped exon end: 7169986 | |
| Mutation start: 7169900 | |
| Mutation end: 7169900 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: T | |
| AAchange: p.E43* | |
exon_skip_113241_PAAD_TCGA-IB-7651-01.png | |
exon_skip_115380_PAAD_TCGA-IB-7651-01.png | |
exon_skip_124564_PAAD_TCGA-IB-7651-01.png | |
exon_skip_135806_PAAD_TCGA-IB-7651-01.png | |
exon_skip_139341_PAAD_TCGA-IB-7651-01.png | |
exon_skip_153733_PAAD_TCGA-IB-7651-01.png | |
exon_skip_155805_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18053_PAAD_TCGA-IB-7651-01.png | |
exon_skip_18056_PAAD_TCGA-IB-7651-01.png | |
exon_skip_23067_PAAD_TCGA-IB-7651-01.png | |
exon_skip_287059_PAAD_TCGA-IB-7651-01.png | |
exon_skip_294631_PAAD_TCGA-IB-7651-01.png | |
exon_skip_298512_PAAD_TCGA-IB-7651-01.png | |
exon_skip_306900_PAAD_TCGA-IB-7651-01.png | |
exon_skip_307723_PAAD_TCGA-IB-7651-01.png | |
exon_skip_315960_PAAD_TCGA-IB-7651-01.png | |
exon_skip_324675_PAAD_TCGA-IB-7651-01.png | |
exon_skip_330351_PAAD_TCGA-IB-7651-01.png | |
exon_skip_334330_PAAD_TCGA-IB-7651-01.png | |
exon_skip_341784_PAAD_TCGA-IB-7651-01.png | |
exon_skip_343314_PAAD_TCGA-IB-7651-01.png | |
exon_skip_348329_PAAD_TCGA-IB-7651-01.png | |
exon_skip_354232_PAAD_TCGA-IB-7651-01.png | |
exon_skip_370626_PAAD_TCGA-IB-7651-01.png | |
exon_skip_377740_PAAD_TCGA-IB-7651-01.png | |
exon_skip_385032_PAAD_TCGA-IB-7651-01.png | |
exon_skip_390031_PAAD_TCGA-IB-7651-01.png | |
exon_skip_422548_PAAD_TCGA-IB-7651-01.png | |
exon_skip_424536_PAAD_TCGA-IB-7651-01.png | |
exon_skip_431753_PAAD_TCGA-IB-7651-01.png | |
exon_skip_432982_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435489_PAAD_TCGA-IB-7651-01.png | |
exon_skip_435729_PAAD_TCGA-IB-7651-01.png | |
exon_skip_441705_PAAD_TCGA-IB-7651-01.png | |
exon_skip_448879_PAAD_TCGA-IB-7651-01.png | |
exon_skip_468347_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494000_PAAD_TCGA-IB-7651-01.png | |
exon_skip_494029_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499410_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499695_PAAD_TCGA-IB-7651-01.png | |
exon_skip_499697_PAAD_TCGA-IB-7651-01.png | |
exon_skip_79905_PAAD_TCGA-IB-7651-01.png | |
exon_skip_80096_PAAD_TCGA-IB-7651-01.png | |
exon_skip_95924_PAAD_TCGA-IB-7651-01.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 |
| ME180_CERVIX | 7169779 | 7169986 | 7169804 | 7169805 | Missense_Mutation | GC | TT | p.A11L |
| HEC251_ENDOMETRIUM | 7169779 | 7169986 | 7169879 | 7169879 | Missense_Mutation | G | T | p.V36L |
| SNU1040_LARGE_INTESTINE | 7169779 | 7169986 | 7169919 | 7169919 | Missense_Mutation | G | A | p.G49E |
| HCC2998_LARGE_INTESTINE | 7169779 | 7169986 | 7169945 | 7169945 | Missense_Mutation | G | A | p.D58N |
| P30OHK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 7169779 | 7169986 | 7169972 | 7169972 | Missense_Mutation | T | C | p.Y67H |
| BT474_BREAST | 7171571 | 7171696 | 7171676 | 7171676 | Missense_Mutation | A | G | p.D166G |
| KM12_LARGE_INTESTINE | 7174313 | 7174421 | 7174418 | 7174418 | Nonsense_Mutation | C | T | p.Q355* |
| KM12_LARGE_INTESTINE | 7174343 | 7174421 | 7174418 | 7174418 | Nonsense_Mutation | C | T | p.Q355* |
| HUCCT1_BILIARY_TRACT | 7174313 | 7174421 | 7174421 | 7174421 | Splice_Site | C | T | p.P356S |
| HUCCT1_BILIARY_TRACT | 7174343 | 7174421 | 7174421 | 7174421 | Splice_Site | C | T | p.P356S |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C1S |
| 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_79910 | 12 | 7170193:7170371:7171570:7171696:7172403:7172482 | 7171570:7171696 | ENST00000406697.1,ENST00000328916.3,ENST00000360817.5,ENST00000443875.1,ENST00000402681.3,ENST00000541647.1 | LUAD | rs7965055 | chr12:7171620 | C/T | 9.00e-04 |
| exon_skip_79910 | 12 | 7170193:7170371:7171570:7171696:7172403:7172482 | 7171570:7171696 | ENST00000406697.1,ENST00000328916.3,ENST00000360817.5,ENST00000443875.1,ENST00000402681.3,ENST00000541647.1 | LUAD | rs7965055 | chr12:7171620 | C/T | 9.00e-04 |
| exon_skip_79897 | 12 | 7150264:7150432:7163344:7163501:7169142:7169221 | 7163344:7163501 | ENST00000406697.1 | BRCA | rs1990477 | chr12:7163413 | T/C | 3.33e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C1S |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C1S |
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RelatedDrugs for C1S |
| 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 |
| P09871 | DB00002 | Cetuximab | Complement C1s subcomponent | biotech | approved | |
| P09871 | DB00054 | Abciximab | Complement C1s subcomponent | biotech | approved | |
| P09871 | DB06404 | Human C1-esterase inhibitor | Complement C1s subcomponent | biotech | approved | |
| P09871 | DB00005 | Etanercept | Complement C1s subcomponent | biotech | approved|investigational | |
| P09871 | DB00056 | Gemtuzumab ozogamicin | Complement C1s subcomponent | biotech | approved|investigational | |
| P09871 | DB00072 | Trastuzumab | Complement C1s subcomponent | biotech | approved|investigational | |
| P09871 | DB00074 | Basiliximab | Complement C1s subcomponent | biotech | approved|investigational | |
| P09871 | DB00075 | Muromonab | Complement C1s subcomponent | biotech | approved|investigational | |
| P09871 | DB00078 | Ibritumomab tiuxetan | Complement C1s subcomponent | biotech | approved|investigational | |
| P09871 | DB01593 | Zinc | Complement C1s subcomponent | small molecule | approved|investigational | |
| P09871 | DB09228 | Conestat alfa | Complement C1s subcomponent | biotech | approved|investigational | |
| P09871 | DB14487 | Zinc acetate | Complement C1s subcomponent | small molecule | approved|investigational | |
| P09871 | DB14533 | Zinc chloride | Complement C1s subcomponent | small molecule | approved|investigational |
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RelatedDiseases for C1S |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| C1S | C0004364 | Autoimmune Diseases | 1 | CTD_human |
| C1S | C0241910 | Hepatitis, Autoimmune | 1 | CTD_human |
| C1S | C0677607 | Hashimoto Disease | 1 | CTD_human;HPO |
| C1S | C2717905 | Hereditary Angioedema Types I and II | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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