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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for C5

check button Gene summary
Gene informationGene symbol

C5

Gene ID

727

Gene namecomplement C5
SynonymsC5D|C5a|C5b|CPAMD4|ECLZB
Cytomap

9q33.2

Type of geneprotein-coding
Descriptioncomplement C5C3 and PZP-like alpha-2-macroglobulin domain-containing protein 4C5a anaphylatoxinanaphylatoxin C5a analogcomplement component 5prepro-C5
Modification date20180527
UniProtAcc

P01031

ContextPubMed: C5 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
C5

GO:0010575

positive regulation of vascular endothelial growth factor production

14566334|16452172

C5

GO:0010760

negative regulation of macrophage chemotaxis

14566334

C5

GO:0090197

positive regulation of chemokine secretion

14566334


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Exon skipping events across known transcript of Ensembl for C5 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for C5

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for C5

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5066269123714615:123715146:123716007:123716146:123719562:123719646123716007:123716146ENSG00000106804.6ENST00000223642.1
exon_skip_5066279123716007:123716146:123719562:123719646:123722525:123722615123719562:123719646ENSG00000106804.6ENST00000223642.1
exon_skip_5066299123722525:123722615:123723759:123723843:123724948:123724985123723759:123723843ENSG00000106804.6ENST00000480188.1,ENST00000223642.1
exon_skip_5066309123734207:123734270:123737056:123737209:123738977:123739183123737056:123737209ENSG00000106804.6ENST00000223642.1
exon_skip_5066319123738977:123739183:123742360:123742532:123744121:123744170123742360:123742532ENSG00000106804.6ENST00000223642.1
exon_skip_5066349123744121:123744217:123744932:123745092:123751323:123751399123744932:123745092ENSG00000106804.6ENST00000223642.1
exon_skip_5066359123751845:123752058:123753468:123753558:123758517:123758578123753468:123753558ENSG00000106804.6ENST00000223642.1
exon_skip_5066389123779639:123779789:123779920:123780130:123782253:123782457123779920:123780130ENSG00000106804.6ENST00000223642.1
exon_skip_5066399123782253:123782457:123783786:123783972:123785681:123785797123783786:123783972ENSG00000106804.6ENST00000223642.1
exon_skip_5066409123783786:123783972:123785681:123785797:123787731:123787858123785681:123785797ENSG00000106804.6ENST00000223642.1
exon_skip_5066429123792674:123792765:123794390:123794473:123797080:123797104123794390:123794473ENSG00000106804.6ENST00000460578.1,ENST00000223642.1
exon_skip_5066439123800158:123800229:123805281:123805444:123808468:123808661123805281:123805444ENSG00000106804.6ENST00000223642.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for C5

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5066269123714615:123715146:123716007:123716146:123719562:123719646123716007:123716146ENSG00000106804.6ENST00000223642.1
exon_skip_5066279123716007:123716146:123719562:123719646:123722525:123722615123719562:123719646ENSG00000106804.6ENST00000223642.1
exon_skip_5066299123722525:123722615:123723759:123723843:123724948:123724985123723759:123723843ENSG00000106804.6ENST00000223642.1,ENST00000480188.1
exon_skip_5066309123734207:123734270:123737056:123737209:123738977:123739183123737056:123737209ENSG00000106804.6ENST00000223642.1
exon_skip_5066319123738977:123739183:123742360:123742532:123744121:123744170123742360:123742532ENSG00000106804.6ENST00000223642.1
exon_skip_5066349123744121:123744217:123744932:123745092:123751323:123751399123744932:123745092ENSG00000106804.6ENST00000223642.1
exon_skip_5066359123751845:123752058:123753468:123753558:123758517:123758578123753468:123753558ENSG00000106804.6ENST00000223642.1
exon_skip_5066389123779639:123779789:123779920:123780130:123782253:123782457123779920:123780130ENSG00000106804.6ENST00000223642.1
exon_skip_5066399123782253:123782457:123783786:123783972:123785681:123785797123783786:123783972ENSG00000106804.6ENST00000223642.1
exon_skip_5066409123783786:123783972:123785681:123785797:123787731:123787858123785681:123785797ENSG00000106804.6ENST00000223642.1
exon_skip_5066429123792674:123792765:123794390:123794473:123797080:123797104123794390:123794473ENSG00000106804.6ENST00000223642.1,ENST00000460578.1
exon_skip_5066439123800158:123800229:123805281:123805444:123808468:123808661123805281:123805444ENSG00000106804.6ENST00000223642.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for C5

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000223642123716007123716146Frame-shift
ENST00000223642123742360123742532Frame-shift
ENST00000223642123744932123745092Frame-shift
ENST00000223642123785681123785797Frame-shift
ENST00000223642123794390123794473Frame-shift
ENST00000223642123805281123805444Frame-shift
ENST00000223642123719562123719646In-frame
ENST00000223642123723759123723843In-frame
ENST00000223642123737056123737209In-frame
ENST00000223642123753468123753558In-frame
ENST00000223642123779920123780130In-frame
ENST00000223642123783786123783972In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST00000223642123716007123716146Frame-shift
ENST00000223642123742360123742532Frame-shift
ENST00000223642123744932123745092Frame-shift
ENST00000223642123785681123785797Frame-shift
ENST00000223642123794390123794473Frame-shift
ENST00000223642123805281123805444Frame-shift
ENST00000223642123719562123719646In-frame
ENST00000223642123723759123723843In-frame
ENST00000223642123737056123737209In-frame
ENST00000223642123753468123753558In-frame
ENST00000223642123779920123780130In-frame
ENST00000223642123783786123783972In-frame

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Infer the effects of exon skipping event on protein functional features for C5

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002236425479167612378378612378397211471332372434
ENST000002236425479167612377992012378013015371746502572
ENST000002236425479167612375346812375355828822971950980
ENST00000223642547916761237370561237372093895404712881339
ENST00000223642547916761237237591237238434535461815011529
ENST00000223642547916761237195621237196464709479215591587

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000002236425479167612378378612378397211471332372434
ENST000002236425479167612377992012378013015371746502572
ENST000002236425479167612375346812375355828822971950980
ENST00000223642547916761237370561237372093895404712881339
ENST00000223642547916761237237591237238434535461815011529
ENST00000223642547916761237195621237196464709479215591587

check button 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 featureDescription of feature
P01031372434369376Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031372434378380Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4A5W
P01031372434387396Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031372434401403Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031372434407410Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031372434416422Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031372434428437Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P0103137243419673ChainID=PRO_0000005985;Note=Complement C5 beta chain
P01031372434389389Natural variantID=VAR_023946;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15488949,ECO:0000269|PubMed:1984448;Dbxref=PMID:15488949,PMID:1984448
P01031372434413415TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572498505Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572508516Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572519522Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CU7
P01031502572524529Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572536546Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572548550Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572553563Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572571577Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P0103150257219673ChainID=PRO_0000005985;Note=Complement C5 beta chain
P01031502572567810Disulfide bond.
P01031502572532534HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572518518Natural variantID=VAR_001996;Note=F->S
P01031950980949952Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031950980956959Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031950980974982Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010319509806781676ChainID=PRO_0000005987;Note=Complement C5 alpha chain
P010319509807521676ChainID=PRO_0000005989;Note=Complement C5 alpha' chain
P010319509808661527Disulfide bond.
P01031950980966966Natural variantID=VAR_048823;Note=Polymorphism%3B confirmed at protein level. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22028381;Dbxref=dbSNP:rs2230212,PMID:22028381
P010311288133913101317Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010311288133913241332Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010311288133913381340Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4A5W
P01031128813396781676ChainID=PRO_0000005987;Note=Complement C5 alpha chain
P01031128813397521676ChainID=PRO_0000005989;Note=Complement C5 alpha' chain
P01031128813398661527Disulfide bond.
P010311288133912871303HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010311288133913101310Natural variantID=VAR_014576;Note=S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.2;Dbxref=dbSNP:rs17610
P010311501152915001509Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010311501152915221524Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031150115296781676ChainID=PRO_0000005987;Note=Complement C5 alpha chain
P01031150115297521676ChainID=PRO_0000005989;Note=Complement C5 alpha' chain
P01031150115298661527Disulfide bond.
P010311501152913751505Disulfide bond.
P010311501152915201525Disulfide bond.
P010311501152915261529TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010311559158715591571Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010311559158715741590Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031155915876781676ChainID=PRO_0000005987;Note=Complement C5 alpha chain
P01031155915877521676ChainID=PRO_0000005989;Note=Complement C5 alpha' chain
P010311559158715321606Disulfide bond.
P010311559158715531676Disulfide bond.
P010311559158715321676DomainNote=NTR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00295


check button 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 featureDescription of feature
P01031372434369376Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031372434378380Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4A5W
P01031372434387396Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031372434401403Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031372434407410Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031372434416422Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031372434428437Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P0103137243419673ChainID=PRO_0000005985;Note=Complement C5 beta chain
P01031372434389389Natural variantID=VAR_023946;Note=T->I;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15488949,ECO:0000269|PubMed:1984448;Dbxref=PMID:15488949,PMID:1984448
P01031372434413415TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572498505Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572508516Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572519522Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CU7
P01031502572524529Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572536546Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572548550Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572553563Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572571577Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P0103150257219673ChainID=PRO_0000005985;Note=Complement C5 beta chain
P01031502572567810Disulfide bond.
P01031502572532534HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031502572518518Natural variantID=VAR_001996;Note=F->S
P01031950980949952Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031950980956959Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031950980974982Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010319509806781676ChainID=PRO_0000005987;Note=Complement C5 alpha chain
P010319509807521676ChainID=PRO_0000005989;Note=Complement C5 alpha' chain
P010319509808661527Disulfide bond.
P01031950980966966Natural variantID=VAR_048823;Note=Polymorphism%3B confirmed at protein level. D->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:22028381;Dbxref=dbSNP:rs2230212,PMID:22028381
P010311288133913101317Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010311288133913241332Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010311288133913381340Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4A5W
P01031128813396781676ChainID=PRO_0000005987;Note=Complement C5 alpha chain
P01031128813397521676ChainID=PRO_0000005989;Note=Complement C5 alpha' chain
P01031128813398661527Disulfide bond.
P010311288133912871303HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010311288133913101310Natural variantID=VAR_014576;Note=S->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.2;Dbxref=dbSNP:rs17610
P010311501152915001509Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010311501152915221524Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031150115296781676ChainID=PRO_0000005987;Note=Complement C5 alpha chain
P01031150115297521676ChainID=PRO_0000005989;Note=Complement C5 alpha' chain
P01031150115298661527Disulfide bond.
P010311501152913751505Disulfide bond.
P010311501152915201525Disulfide bond.
P010311501152915261529TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010311559158715591571Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P010311559158715741590Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5HCC
P01031155915876781676ChainID=PRO_0000005987;Note=Complement C5 alpha chain
P01031155915877521676ChainID=PRO_0000005989;Note=Complement C5 alpha' chain
P010311559158715321606Disulfide bond.
P010311559158715531676Disulfide bond.
P010311559158715321676DomainNote=NTR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00295


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SNVs in the skipped exons for C5

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.
C5_PAAD_exon_skip_506635_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_506626
123716008123716146123716101123716101Frame_Shift_DelT-p.K1603fs
LIHCTCGA-DD-A1EG-01exon_skip_506629
123723760123723843123723802123723802Frame_Shift_DelT-p.I1516fs
LIHCTCGA-DD-A3A0-01exon_skip_506630
123737057123737209123737069123737069Frame_Shift_DelC-p.G1335fs
LIHCTCGA-DD-A39Y-01exon_skip_506630
123737057123737209123737121123737121Frame_Shift_DelT-p.K1318fs
BLCATCGA-K4-A5RH-01exon_skip_506631
123742361123742532123742477123742477Frame_Shift_DelG-p.P1181fs
LIHCTCGA-DD-A1EG-01exon_skip_506631
123742361123742532123742529123742529Frame_Shift_DelT-p.I1164fs
STADTCGA-F1-6874-01exon_skip_506635
123753469123753558123753470123753470Frame_Shift_DelT-p.G981fs
STADTCGA-F1-6874-01exon_skip_506635
123753469123753558123753470123753470Frame_Shift_DelT-p.K980fs
PAADTCGA-2J-AAB6-01exon_skip_506640
123785682123785797123785771123785772Frame_Shift_Ins-Tp.P343fs
PAADTCGA-2J-AAB6-01exon_skip_506640
123785682123785797123785771123785772Frame_Shift_Ins-Tp.W343fs
ESCATCGA-S8-A6BW-01exon_skip_506634
123744933123745092123744998123744998Nonsense_MutationCAp.E1109X
GBMTCGA-06-0646-01exon_skip_506634
123744933123745092123745005123745005Nonsense_MutationCTp.W1106*
COADTCGA-DM-A1DA-01exon_skip_506635
123753469123753558123753469123753469Nonsense_MutationCAp.G981X
PAADTCGA-IB-7651-01exon_skip_506635
123753469123753558123753544123753544Nonsense_MutationGAp.R956*
KIRCTCGA-CZ-5465-01exon_skip_506627
123719563123719646123719562123719562Splice_SiteCT.
OVTCGA-13-0884-01exon_skip_506638
123779921123780130123780131123780131Splice_SiteCGe13-1

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
C5_123751845_123752058_123753468_123753558_123758517_123758578_TCGA-DM-A1DA-01Sample: TCGA-DM-A1DA-01
Cancer type: COAD
ESID: exon_skip_506635
Skipped exon start: 123753469
Skipped exon end: 123753558
Mutation start: 123753469
Mutation end: 123753469
Mutation type: Nonsense_Mutation
Reference seq: C
Mutation seq: A
AAchange: p.G981X
exon_skip_506635_COAD_TCGA-DM-A1DA-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HS600T_FIBROBLAST123785682123785797123785757123785758Frame_Shift_DelAT-p.Y347fs
HS600T_FIBROBLAST123785682123785797123785759123785760Frame_Shift_Ins-CCCCCp.Y347fs
HS600T_FIBROBLAST123785682123785797123785757123785758In_Frame_Ins-CCCp.347_347Y>*G
LN428_CENTRAL_NERVOUS_SYSTEM123716008123716146123716033123716033Missense_MutationGTp.Q1626K
HEC251_ENDOMETRIUM123716008123716146123716053123716053Missense_MutationACp.I1619S
SNGM_ENDOMETRIUM123716008123716146123716060123716060Missense_MutationAGp.Y1617H
LNCAPCLONEFGC_PROSTATE123719563123719646123719604123719604Missense_MutationATp.F1574Y
PANC0213_PANCREAS123719563123719646123719605123719605Missense_MutationAGp.F1574L
IM95_STOMACH123719563123719646123719626123719626Missense_MutationAGp.S1567P
SNU201_CENTRAL_NERVOUS_SYSTEM123723760123723843123723834123723834Missense_MutationCTp.C1505Y
JHUEM7_ENDOMETRIUM123737057123737209123737081123737081Missense_MutationCAp.K1331N
HCC202_BREAST123737057123737209123737095123737095Missense_MutationTCp.K1327E
NBTU110_AUTONOMIC_GANGLIA123737057123737209123737100123737100Missense_MutationTCp.N1325S
MEWO_SKIN123737057123737209123737127123737127Missense_MutationGAp.S1316F
NCIH838_LUNG123737057123737209123737152123737152Missense_MutationGAp.R1308C
HEC251_ENDOMETRIUM123742361123742532123742403123742403Missense_MutationGAp.R1206C
H290_PLEURA123742361123742532123742403123742403Missense_MutationGTp.R1206S
NCIH82_LUNG123742361123742532123742426123742426Missense_MutationCTp.G1198E
SNU1040_LARGE_INTESTINE123742361123742532123742438123742438Missense_MutationGAp.A1194V
SNU175_LARGE_INTESTINE123779921123780130123779958123779958Missense_MutationCGp.W560S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123779921123780130123779964123779964Missense_MutationGAp.S558L
NCIH1155_LUNG123779921123780130123779995123779995Missense_MutationCTp.G548R
NCIH835_LUNG123779921123780130123780051123780051Missense_MutationGAp.P529L
HGC27_STOMACH123779921123780130123780096123780096Missense_MutationGAp.T514M
RH18_SOFT_TISSUE123779921123780130123780096123780096Missense_MutationGAp.T514M
HCC2998_LARGE_INTESTINE123779921123780130123780128123780128Missense_MutationACp.I503M
HCC1569_BREAST123783787123783972123783839123783839Missense_MutationAGp.V417A
HEC108_ENDOMETRIUM123783787123783972123783869123783869Missense_MutationCTp.S407N
SNU1040_LARGE_INTESTINE123783787123783972123783873123783873Missense_MutationGAp.P406S
RCCFG2_KIDNEY123785682123785797123785772123785772Missense_MutationTCp.I342M
ESS1_ENDOMETRIUM123805282123805444123805327123805327Missense_MutationGTp.L126I
HCC1569_BREAST123805282123805444123805401123805401Missense_MutationTAp.Y101F
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123742361123742532123742399123742399Nonsense_MutationGCp.S1207*
HT115_LARGE_INTESTINE123753469123753558123753544123753544Nonsense_MutationGAp.R956*
KM12_LARGE_INTESTINE123753469123753558123753544123753544Nonsense_MutationGAp.R956*
JHUEM7_ENDOMETRIUM123779921123780130123779992123779992Nonsense_MutationCAp.E549*
OC316_OVARY123779921123780130123780022123780022Nonsense_MutationGAp.R539*
OC314_OVARY123779921123780130123780022123780022Nonsense_MutationGAp.R539*
NCO2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE123716008123716146123716009123716009Splice_SiteTAp.R1634W
JHUEM7_ENDOMETRIUM123742361123742532123742531123742531Splice_SiteTGp.K1163T
NCIH1792_LUNG123783787123783972123783787123783787Splice_SiteAGp.N434N

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C5

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C5


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C5


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RelatedDrugs for C5

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P01031DB01257EculizumabComplement C5biotechapproved|investigational
P01031DB01593ZincComplement C5small moleculeapproved|investigational
P01031DB14487Zinc acetateComplement C5small moleculeapproved|investigational
P01031DB14533Zinc chlorideComplement C5small moleculeapproved|investigational

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RelatedDiseases for C5

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
C5C0031154Peritonitis2CTD_human
C5C0021051Immunologic Deficiency Syndromes1CTD_human