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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 SFTPC |
 Gene summary |
| Gene information | Gene symbol | SFTPC | Gene ID | 6440 |
| Gene name | surfactant protein C | |
| Synonyms | BRICD6|PSP-C|SFTP2|SMDP2|SP-C | |
| Cytomap | 8p21.3 | |
| Type of gene | protein-coding | |
| Description | pulmonary surfactant-associated protein CBRICHOS domain containing 6SP5pulmonary surfactant apoprotein-2 SP-Cpulmonary surfactant-associated proteolipid SPL(Val) | |
| Modification date | 20180520 | |
| UniProtAcc | P11686 | |
| Context | PubMed: SFTPC [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 SFTPC 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 SFTPC |
| 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 SFTPC |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_481902 | 8 | 22016987:22017368:22019288:22019383:22020086:22020245 | 22019288:22019383 | ENSG00000168484.8 | ENST00000524318.1 |
| exon_skip_481931 | 8 | 22019321:22019383:22020086:22020245:22020592:22020627 | 22020086:22020245 | ENSG00000168484.8 | ENST00000518615.1,ENST00000318561.3,ENST00000522109.1,ENST00000437090.2,ENST00000521315.1 |
| exon_skip_481935 | 8 | 22019321:22019383:22020592:22020715:22020948:22021052 | 22020592:22020715 | ENSG00000168484.8 | ENST00000520605.1,ENST00000524255.1,ENST00000523296.1 |
| exon_skip_481955 | 8 | 22020592:22020715:22020948:22021059:22021395:22021425 | 22020948:22021059 | ENSG00000168484.8 | ENST00000318561.3,ENST00000524255.1 |
| exon_skip_481956 | 8 | 22020592:22020715:22020948:22021059:22021413:22021425 | 22020948:22021059 | ENSG00000168484.8 | ENST00000521315.1,ENST00000523296.1 |
| exon_skip_481981 | 8 | 22020948:22021059:22021395:22021564:22021778:22021813 | 22021395:22021564 | ENSG00000168484.8 | ENST00000524255.1 |
| exon_skip_481988 | 8 | 22020948:22021059:22021395:22021572:22021778:22021813 | 22021395:22021572 | ENSG00000168484.8 | ENST00000318561.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SFTPC |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_481902 | 8 | 22016987:22017368:22019288:22019383:22020086:22020245 | 22019288:22019383 | ENSG00000168484.8 | ENST00000524318.1 |
| exon_skip_481931 | 8 | 22019321:22019383:22020086:22020245:22020592:22020627 | 22020086:22020245 | ENSG00000168484.8 | ENST00000318561.3,ENST00000521315.1,ENST00000437090.2,ENST00000522109.1,ENST00000518615.1 |
| exon_skip_481935 | 8 | 22019321:22019383:22020592:22020715:22020948:22021052 | 22020592:22020715 | ENSG00000168484.8 | ENST00000520605.1,ENST00000524255.1,ENST00000523296.1 |
| exon_skip_481955 | 8 | 22020592:22020715:22020948:22021059:22021395:22021425 | 22020948:22021059 | ENSG00000168484.8 | ENST00000318561.3,ENST00000524255.1 |
| exon_skip_481956 | 8 | 22020592:22020715:22020948:22021059:22021413:22021425 | 22020948:22021059 | ENSG00000168484.8 | ENST00000521315.1,ENST00000523296.1 |
| exon_skip_481981 | 8 | 22020948:22021059:22021395:22021564:22021778:22021813 | 22021395:22021564 | ENSG00000168484.8 | ENST00000524255.1 |
| exon_skip_481988 | 8 | 22020948:22021059:22021395:22021572:22021778:22021813 | 22021395:22021572 | ENSG00000168484.8 | ENST00000318561.3 |
| 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 SFTPC |
| 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 |
| ENST00000318561 | 22021395 | 22021572 | 3UTR-3CDS |
| ENST00000318561 | 22020086 | 22020245 | In-frame |
| ENST00000318561 | 22020948 | 22021059 | 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 |
| ENST00000318561 | 22021395 | 22021572 | 3UTR-3CDS |
| ENST00000318561 | 22020086 | 22020245 | In-frame |
| ENST00000318561 | 22020948 | 22021059 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SFTPC |
| 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 |
| ENST00000318561 | 1014 | 197 | 22020086 | 22020245 | 217 | 375 | 14 | 67 |
| ENST00000318561 | 1014 | 197 | 22020948 | 22021059 | 499 | 609 | 108 | 145 |
| 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 |
| ENST00000318561 | 1014 | 197 | 22020086 | 22020245 | 217 | 375 | 14 | 67 |
| ENST00000318561 | 1014 | 197 | 22020948 | 22021059 | 499 | 609 | 108 | 145 |
| 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 |
| P11686 | 14 | 67 | 24 | 58 | Chain | ID=PRO_0000033478;Note=Pulmonary surfactant-associated protein C |
| P11686 | 14 | 67 | 28 | 28 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2326260;Dbxref=PMID:2326260 |
| P11686 | 14 | 67 | 29 | 29 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2326260;Dbxref=PMID:2326260 |
| P11686 | 14 | 67 | 66 | 66 | Natural variant | ID=VAR_036855;Note=In SMDP2%3B targeted abnormally to early endosomes and likely to result in a toxic gain of function. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15557112;Dbxref=PMID:15557112 |
| P11686 | 14 | 67 | 1 | 23 | Propeptide | ID=PRO_0000033477;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3366248;Dbxref=PMID:3366248 |
| P11686 | 14 | 67 | 59 | 197 | Propeptide | ID=PRO_0000033479 |
| P11686 | 14 | 67 | 14 | 14 | Sequence conflict | Note=P->PPCQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P11686 | 14 | 67 | 45 | 45 | Sequence conflict | Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P11686 | 14 | 67 | 65 | 67 | Sequence conflict | Note=TEM->FPQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P11686 | 108 | 145 | 110 | 116 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YAD |
| P11686 | 108 | 145 | 121 | 125 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YAD |
| P11686 | 108 | 145 | 120 | 148 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22308375;Dbxref=PMID:22308375 |
| P11686 | 108 | 145 | 121 | 189 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22308375;Dbxref=PMID:22308375 |
| P11686 | 108 | 145 | 94 | 197 | Domain | Note=BRICHOS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00255 |
| P11686 | 108 | 145 | 134 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YAD |
| P11686 | 108 | 145 | 116 | 116 | Natural variant | ID=VAR_026754;Note=In SMDP2. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15647591;Dbxref=PMID:15647591 |
| P11686 | 108 | 145 | 138 | 138 | Natural variant | ID=VAR_007453;Note=Influences susceptibility to RDS in premature infants. N->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:14735158,E |
| P11686 | 108 | 145 | 59 | 197 | Propeptide | ID=PRO_0000033479 |
| P11686 | 108 | 145 | 106 | 109 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YAD |
| 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 |
| P11686 | 14 | 67 | 24 | 58 | Chain | ID=PRO_0000033478;Note=Pulmonary surfactant-associated protein C |
| P11686 | 14 | 67 | 28 | 28 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2326260;Dbxref=PMID:2326260 |
| P11686 | 14 | 67 | 29 | 29 | Lipidation | Note=S-palmitoyl cysteine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:2326260;Dbxref=PMID:2326260 |
| P11686 | 14 | 67 | 66 | 66 | Natural variant | ID=VAR_036855;Note=In SMDP2%3B targeted abnormally to early endosomes and likely to result in a toxic gain of function. E->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15557112;Dbxref=PMID:15557112 |
| P11686 | 14 | 67 | 1 | 23 | Propeptide | ID=PRO_0000033477;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:3366248;Dbxref=PMID:3366248 |
| P11686 | 14 | 67 | 59 | 197 | Propeptide | ID=PRO_0000033479 |
| P11686 | 14 | 67 | 14 | 14 | Sequence conflict | Note=P->PPCQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P11686 | 14 | 67 | 45 | 45 | Sequence conflict | Note=L->S;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P11686 | 14 | 67 | 65 | 67 | Sequence conflict | Note=TEM->FPQ;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| P11686 | 108 | 145 | 110 | 116 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YAD |
| P11686 | 108 | 145 | 121 | 125 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YAD |
| P11686 | 108 | 145 | 120 | 148 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22308375;Dbxref=PMID:22308375 |
| P11686 | 108 | 145 | 121 | 189 | Disulfide bond | Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22308375;Dbxref=PMID:22308375 |
| P11686 | 108 | 145 | 94 | 197 | Domain | Note=BRICHOS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00255 |
| P11686 | 108 | 145 | 134 | 143 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YAD |
| P11686 | 108 | 145 | 116 | 116 | Natural variant | ID=VAR_026754;Note=In SMDP2. A->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15647591;Dbxref=PMID:15647591 |
| P11686 | 108 | 145 | 138 | 138 | Natural variant | ID=VAR_007453;Note=Influences susceptibility to RDS in premature infants. N->T;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:14702039,ECO:0000269|PubMed:14735158,E |
| P11686 | 108 | 145 | 59 | 197 | Propeptide | ID=PRO_0000033479 |
| P11686 | 108 | 145 | 106 | 109 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:2YAD |
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SNVs in the skipped exons for SFTPC |
| - 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-A39Y-01 | exon_skip_481931 | 22020087 | 22020245 | 22020231 | 22020231 | Frame_Shift_Del | A | - | p.K63fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_481981 | 22021396 | 22021564 | 22021491 | 22021491 | Frame_Shift_Del | C | - | p.D171fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_481988 | 22021396 | 22021572 | 22021491 | 22021491 | Frame_Shift_Del | C | - | p.D171fs |
| STAD | TCGA-F1-6177-01 | exon_skip_481955 exon_skip_481956 | 22020949 | 22021059 | 22021059 | 22021060 | Frame_Shift_Ins | - | GT | p.Q145fs |
| COAD | TCGA-CM-6162-01 | exon_skip_481931 | 22020087 | 22020245 | 22020246 | 22020246 | Splice_Site | G | A | . |
| BRCA | TCGA-A8-A08A-01 | exon_skip_481955 exon_skip_481956 | 22020949 | 22021059 | 22021060 | 22021061 | Splice_Site | GT | - | e4+1 |
| BRCA | TCGA-AR-A24Z-01 | exon_skip_481955 exon_skip_481956 | 22020949 | 22021059 | 22021060 | 22021061 | Splice_Site | GT | - | e4+1 |
| HNSC | TCGA-BA-5152-01 | exon_skip_481955 exon_skip_481956 | 22020949 | 22021059 | 22021060 | 22021061 | Splice_Site | GT | - | p.Q145_splice |
| STAD | TCGA-CG-5726-01 | exon_skip_481955 exon_skip_481956 | 22020949 | 22021059 | 22021060 | 22021061 | Splice_Site | - | GT | p.Q194_splice |
| STAD | TCGA-F1-6177-01 | exon_skip_481955 exon_skip_481956 | 22020949 | 22021059 | 22021060 | 22021061 | Splice_Site | - | GT | p.Q194_splice |
| UCEC | TCGA-A5-A0RA-01 | exon_skip_481955 exon_skip_481956 | 22020949 | 22021059 | 22021060 | 22021061 | Splice_Site | GT | - | p.Q194_splice |
| - 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 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SFTPC |
| 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 SFTPC |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SFTPC |
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RelatedDrugs for SFTPC |
| 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 SFTPC |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SFTPC | C1970470 | SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) | 5 | CTD_human;ORPHANET;UNIPROT |
| SFTPC | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| SFTPC | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| SFTPC | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
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