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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 C3

check button Gene summary
Gene informationGene symbol

C3

Gene ID

718

Gene namecomplement C3
SynonymsAHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62p
Cytomap

19p13.3

Type of geneprotein-coding
Descriptioncomplement C3C3 and PZP-like alpha-2-macroglobulin domain-containing protein 1C3a anaphylatoxinacylation-stimulating protein cleavage productcomplement component 3complement component C3acomplement component C3bepididymis secretory sperm binding pr
Modification date20180519
UniProtAcc

P01024

ContextPubMed: C3 [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
C3

GO:0001934

positive regulation of protein phosphorylation

15833747

C3

GO:0010575

positive regulation of vascular endothelial growth factor production

16452172

C3

GO:0010828

positive regulation of glucose transmembrane transport

9059512|15833747

C3

GO:0010866

regulation of triglyceride biosynthetic process

10432298

C3

GO:0010884

positive regulation of lipid storage

9555951

C3

GO:0045745

positive regulation of G-protein coupled receptor protein signaling pathway

15833747


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Exon skipping events across known transcript of Ensembl for C3 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 C3

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 C3

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_313884196677877:6678034:6678162:6678298:6678382:66784666678162:6678298ENSG00000125730.12ENST00000599668.1,ENST00000599899.1,ENST00000245907.6
exon_skip_313889196678162:6678298:6678382:6678466:6679135:66791606678382:6678466ENSG00000125730.12ENST00000599668.1,ENST00000602229.1,ENST00000599899.1,ENST00000245907.6
exon_skip_313896196680169:6680274:6681951:6682041:6682152:66822406681951:6682041ENSG00000125730.12ENST00000599899.1,ENST00000245907.6,ENST00000596548.1
exon_skip_313908196682152:6682240:6684398:6684450:6684570:66846436684398:6684450ENSG00000125730.12ENST00000245907.6
exon_skip_313909196682152:6682240:6684398:6684489:6684570:66846436684398:6684489ENSG00000125730.12ENST00000596548.1
exon_skip_313910196684570:6684661:6684785:6684845:6684998:66850496684785:6684845ENSG00000125730.12ENST00000596238.1,ENST00000245907.6,ENST00000596548.1
exon_skip_313915196686756:6686913:6690639:6690738:6692934:66930946690639:6690738ENSG00000125730.12ENST00000245907.6,ENST00000598805.2
exon_skip_313928196702481:6702590:6707086:6707284:6707476:67075486707086:6707284ENSG00000125730.12ENST00000245907.6
exon_skip_313929196709766:6709853:6710649:6710856:6710997:67112076710649:6710856ENSG00000125730.12ENST00000245907.6
exon_skip_313937196714362:6714457:6718104:6718175:6718257:67184236718104:6718175ENSG00000125730.12ENST00000245907.6

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

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Exon skipping events with PSIs in GTEx for C3

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_313884196677877:6678034:6678162:6678298:6678382:66784666678162:6678298ENSG00000125730.12ENST00000245907.6,ENST00000599899.1,ENST00000599668.1
exon_skip_313889196678162:6678298:6678382:6678466:6679135:66791606678382:6678466ENSG00000125730.12ENST00000245907.6,ENST00000599899.1,ENST00000602229.1,ENST00000599668.1
exon_skip_313896196680169:6680274:6681951:6682041:6682152:66822406681951:6682041ENSG00000125730.12ENST00000245907.6,ENST00000599899.1,ENST00000596548.1
exon_skip_313908196682152:6682240:6684398:6684450:6684570:66846436684398:6684450ENSG00000125730.12ENST00000245907.6
exon_skip_313909196682152:6682240:6684398:6684489:6684570:66846436684398:6684489ENSG00000125730.12ENST00000596548.1
exon_skip_313910196684570:6684661:6684785:6684845:6684998:66850496684785:6684845ENSG00000125730.12ENST00000245907.6,ENST00000596548.1,ENST00000596238.1
exon_skip_313915196686756:6686913:6690639:6690738:6692934:66930946690639:6690738ENSG00000125730.12ENST00000245907.6,ENST00000598805.2
exon_skip_313928196702481:6702590:6707086:6707284:6707476:67075486707086:6707284ENSG00000125730.12ENST00000245907.6
exon_skip_313929196709766:6709853:6710649:6710856:6710997:67112076710649:6710856ENSG00000125730.12ENST00000245907.6
exon_skip_313937196714362:6714457:6718104:6718175:6718257:67184236718104:6718175ENSG00000125730.12ENST00000245907.6

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 C3

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
ENST0000024590766781626678298Frame-shift
ENST0000024590766843986684450Frame-shift
ENST0000024590767181046718175Frame-shift
ENST0000024590766783826678466In-frame
ENST0000024590766819516682041In-frame
ENST0000024590766847856684845In-frame
ENST0000024590766906396690738In-frame
ENST0000024590767070866707284In-frame
ENST0000024590767106496710856In-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
ENST0000024590766781626678298Frame-shift
ENST0000024590766843986684450Frame-shift
ENST0000024590767181046718175Frame-shift
ENST0000024590766783826678466In-frame
ENST0000024590766819516682041In-frame
ENST0000024590766847856684845In-frame
ENST0000024590766906396690738In-frame
ENST0000024590767070866707284In-frame
ENST0000024590767106496710856In-frame

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Infer the effects of exon skipping event on protein functional features for C3

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
ENST00000245907528016636710649671085615731779493562
ENST00000245907528016636707086670728421412338682748
ENST0000024590752801663669063966907383484358211301163
ENST0000024590752801663668478566848454063412213231343
ENST0000024590752801663668195166820414354444314201450
ENST0000024590752801663667838266784664724480715431571

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
ENST00000245907528016636710649671085615731779493562
ENST00000245907528016636707086670728421412338682748
ENST0000024590752801663669063966907383484358211301163
ENST0000024590752801663668478566848454063412213231343
ENST0000024590752801663668195166820414354444314201450
ENST0000024590752801663667838266784664724480715431571

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
P01024493562489496Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P01024493562499507Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P01024493562513520Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P01024493562527538Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P01024493562540542Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QKI
P01024493562544554Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P01024493562231663ChainID=PRO_0000005907;Note=Complement C3
P0102449356223667ChainID=PRO_0000005908;Note=Complement C3 beta chain
P01024493562559816Disulfide bondNote=Interchain (between beta and alpha chains)
P01024493562523525HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P01024493562549549Natural variantID=VAR_001985;Note=In C3D%3B impairs secretion%3B variant confirmed at protein level. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22028381,ECO:0000269|PubMed:7961791;Dbxref=dbSNP:rs1449441916,PMID:22028381,PMID:7961791
P01024682748231663ChainID=PRO_0000005907;Note=Complement C3
P010246827486721663ChainID=PRO_0000005909;Note=Complement C3 alpha chain
P01024682748672748ChainID=PRO_0000005910;Note=C3a anaphylatoxin
P01024682748672747ChainID=PRO_0000419935;Note=Acylation stimulating protein
P01024682748559816Disulfide bondNote=Interchain (between beta and alpha chains)
P01024682748693720Disulfide bondOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8416818;Dbxref=PMID:8416818
P01024682748694727Disulfide bond.
P01024682748707728Disulfide bond.
P01024682748693728DomainNote=Anaphylatoxin-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00022
P01024682748675684HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4HW5
P01024682748688697HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4I6O
P01024682748707710HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4I6O
P01024682748718743HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4I6O
P01024682748735735Natural variantID=VAR_063215;Note=In AHUS5. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18796626;Dbxref=dbSNP:rs117793540,PMID:18796626
P01024682748700700Sequence conflictNote=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
P01024682748747748SiteNote=Cleavage%3B by carboxypeptidases
P01024682748748749SiteNote=Cleavage%3B by C3 convertase
P01024682748712714TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4HW5
P0102411301163231663ChainID=PRO_0000005907;Note=Complement C3
P01024113011636721663ChainID=PRO_0000005909;Note=Complement C3 alpha chain
P01024113011637491663ChainID=PRO_0000005911;Note=Complement C3b alpha' chain
P01024113011639551303ChainID=PRO_0000005913;Note=Complement C3dg fragment
P010241130116310021303ChainID=PRO_0000005915;Note=Complement C3d fragment
P01024113011638731513Disulfide bond.
P010241130116311011158Disulfide bond.
P010241130116311271133HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WY7
P010241130116311391158HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WY7
P010241130116311401140MutagenesisNote=No effect on binding of C3d to CR2. D->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951140;Dbxref=PMID:20083651,PMID:20951140
P010241130116311531153MutagenesisNote=Impaired binding of C3d to CR2. E->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951140;Dbxref=PMID:20083651,PMID:20951140
P010241130116311561156MutagenesisNote=Impaired binding of C3d to CR2. D->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951140;Dbxref=PMID:20083651,PMID:20951140
P010241130116311591159MutagenesisNote=Impaired binding of C3d to CR2. E->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951140;Dbxref=PMID:20083651,PMID:20951140
P010241130116311601160MutagenesisNote=Minor effect on binding of C3d to CR2. E->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951140;Dbxref=PMID:20083651,PMID:20951140
P010241130116311631163MutagenesisNote=No effect on binding of C3d to CR2. Impaired binding of C3d to CR2%3B when associated with 1108-R-R-1109. N->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11387479,ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951
P010241130116311631163MutagenesisNote=Impaired binding of C3d to CR2. N->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11387479,ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951140;Dbxref=PMID:11387479,PMID:20083651,PMID:20951140
P010241130116311581158Natural variantID=VAR_063218;Note=In AHUS5. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18796626;Dbxref=PMID:18796626
P010241130116311611161Natural variantID=VAR_063219;Note=In AHUS5%3B leads to impaired binding to the regulator CD46/MCP and resistance to cleavage by factor I. Q->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18796626;Dbxref=PMID:18796626
P010241130116311591161TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WY7
P010241323134313201326Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FO8
P010241323134313301338Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FO8
P010241323134313401350Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FO8
P0102413231343231663ChainID=PRO_0000005907;Note=Complement C3
P01024132313436721663ChainID=PRO_0000005909;Note=Complement C3 alpha chain
P01024132313437491663ChainID=PRO_0000005911;Note=Complement C3b alpha' chain
P010241323134313211663ChainID=PRO_0000273948;Note=Complement C3c alpha' chain fragment 2
P01024132313438731513Disulfide bond.
P010241420145014241428Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6EHG
P010241420145014421449Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P0102414201450231663ChainID=PRO_0000005907;Note=Complement C3
P01024142014506721663ChainID=PRO_0000005909;Note=Complement C3 alpha chain
P01024142014507491663ChainID=PRO_0000005911;Note=Complement C3b alpha' chain
P010241420145013211663ChainID=PRO_0000273948;Note=Complement C3c alpha' chain fragment 2
P01024142014508731513Disulfide bond.
P010241420145013581489Disulfide bond.
P010241420145013891458Disulfide bond.
P010241420145014151422HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P010241420145014311434HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P010241420145014241456RegionNote=Properdin-binding
P010241420145014381440TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P010241543157115411553Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P010241543157115561570Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P0102415431571231663ChainID=PRO_0000005907;Note=Complement C3
P01024154315716721663ChainID=PRO_0000005909;Note=Complement C3 alpha chain
P01024154315717491663ChainID=PRO_0000005911;Note=Complement C3b alpha' chain
P010241543157113211663ChainID=PRO_0000273948;Note=Complement C3c alpha' chain fragment 2
P010241543157115181590Disulfide bond.
P010241543157115371661Disulfide bond.
P010241543157115181661DomainNote=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
P01024493562489496Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P01024493562499507Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P01024493562513520Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P01024493562527538Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P01024493562540542Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2QKI
P01024493562544554Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P01024493562231663ChainID=PRO_0000005907;Note=Complement C3
P0102449356223667ChainID=PRO_0000005908;Note=Complement C3 beta chain
P01024493562559816Disulfide bondNote=Interchain (between beta and alpha chains)
P01024493562523525HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P01024493562549549Natural variantID=VAR_001985;Note=In C3D%3B impairs secretion%3B variant confirmed at protein level. D->N;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:22028381,ECO:0000269|PubMed:7961791;Dbxref=dbSNP:rs1449441916,PMID:22028381,PMID:7961791
P01024682748231663ChainID=PRO_0000005907;Note=Complement C3
P010246827486721663ChainID=PRO_0000005909;Note=Complement C3 alpha chain
P01024682748672748ChainID=PRO_0000005910;Note=C3a anaphylatoxin
P01024682748672747ChainID=PRO_0000419935;Note=Acylation stimulating protein
P01024682748559816Disulfide bondNote=Interchain (between beta and alpha chains)
P01024682748693720Disulfide bondOntology_term=ECO:0000269;evidence=ECO:0000269|PubMed:8416818;Dbxref=PMID:8416818
P01024682748694727Disulfide bond.
P01024682748707728Disulfide bond.
P01024682748693728DomainNote=Anaphylatoxin-like;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00022
P01024682748675684HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4HW5
P01024682748688697HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4I6O
P01024682748707710HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4I6O
P01024682748718743HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4I6O
P01024682748735735Natural variantID=VAR_063215;Note=In AHUS5. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18796626;Dbxref=dbSNP:rs117793540,PMID:18796626
P01024682748700700Sequence conflictNote=E->Q;Ontology_term=ECO:0000305;evidence=ECO:0000305
P01024682748747748SiteNote=Cleavage%3B by carboxypeptidases
P01024682748748749SiteNote=Cleavage%3B by C3 convertase
P01024682748712714TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4HW5
P0102411301163231663ChainID=PRO_0000005907;Note=Complement C3
P01024113011636721663ChainID=PRO_0000005909;Note=Complement C3 alpha chain
P01024113011637491663ChainID=PRO_0000005911;Note=Complement C3b alpha' chain
P01024113011639551303ChainID=PRO_0000005913;Note=Complement C3dg fragment
P010241130116310021303ChainID=PRO_0000005915;Note=Complement C3d fragment
P01024113011638731513Disulfide bond.
P010241130116311011158Disulfide bond.
P010241130116311271133HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WY7
P010241130116311391158HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WY7
P010241130116311401140MutagenesisNote=No effect on binding of C3d to CR2. D->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951140;Dbxref=PMID:20083651,PMID:20951140
P010241130116311531153MutagenesisNote=Impaired binding of C3d to CR2. E->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951140;Dbxref=PMID:20083651,PMID:20951140
P010241130116311561156MutagenesisNote=Impaired binding of C3d to CR2. D->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951140;Dbxref=PMID:20083651,PMID:20951140
P010241130116311591159MutagenesisNote=Impaired binding of C3d to CR2. E->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951140;Dbxref=PMID:20083651,PMID:20951140
P010241130116311601160MutagenesisNote=Minor effect on binding of C3d to CR2. E->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951140;Dbxref=PMID:20083651,PMID:20951140
P010241130116311631163MutagenesisNote=No effect on binding of C3d to CR2. Impaired binding of C3d to CR2%3B when associated with 1108-R-R-1109. N->A;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11387479,ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951
P010241130116311631163MutagenesisNote=Impaired binding of C3d to CR2. N->R;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11387479,ECO:0000269|PubMed:20083651,ECO:0000269|PubMed:20951140;Dbxref=PMID:11387479,PMID:20083651,PMID:20951140
P010241130116311581158Natural variantID=VAR_063218;Note=In AHUS5. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18796626;Dbxref=PMID:18796626
P010241130116311611161Natural variantID=VAR_063219;Note=In AHUS5%3B leads to impaired binding to the regulator CD46/MCP and resistance to cleavage by factor I. Q->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:18796626;Dbxref=PMID:18796626
P010241130116311591161TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2WY7
P010241323134313201326Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FO8
P010241323134313301338Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FO8
P010241323134313401350Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5FO8
P0102413231343231663ChainID=PRO_0000005907;Note=Complement C3
P01024132313436721663ChainID=PRO_0000005909;Note=Complement C3 alpha chain
P01024132313437491663ChainID=PRO_0000005911;Note=Complement C3b alpha' chain
P010241323134313211663ChainID=PRO_0000273948;Note=Complement C3c alpha' chain fragment 2
P01024132313438731513Disulfide bond.
P010241420145014241428Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6EHG
P010241420145014421449Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P0102414201450231663ChainID=PRO_0000005907;Note=Complement C3
P01024142014506721663ChainID=PRO_0000005909;Note=Complement C3 alpha chain
P01024142014507491663ChainID=PRO_0000005911;Note=Complement C3b alpha' chain
P010241420145013211663ChainID=PRO_0000273948;Note=Complement C3c alpha' chain fragment 2
P01024142014508731513Disulfide bond.
P010241420145013581489Disulfide bond.
P010241420145013891458Disulfide bond.
P010241420145014151422HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P010241420145014311434HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P010241420145014241456RegionNote=Properdin-binding
P010241420145014381440TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P010241543157115411553Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P010241543157115561570Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:2A74
P0102415431571231663ChainID=PRO_0000005907;Note=Complement C3
P01024154315716721663ChainID=PRO_0000005909;Note=Complement C3 alpha chain
P01024154315717491663ChainID=PRO_0000005911;Note=Complement C3b alpha' chain
P010241543157113211663ChainID=PRO_0000273948;Note=Complement C3c alpha' chain fragment 2
P010241543157115181590Disulfide bond.
P010241543157115371661Disulfide bond.
P010241543157115181661DomainNote=NTR;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00295


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SNVs in the skipped exons for C3

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.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-RC-A6M6-01exon_skip_313884
6678163667829866782936678293Frame_Shift_DelC-p.D1574fs
LIHCTCGA-DD-A39Y-01exon_skip_313910
6684786668484566848356684835Frame_Shift_DelT-p.N1327fs
LIHCTCGA-G3-A3CJ-01exon_skip_313929
6710650671085667107566710756Frame_Shift_DelG-p.P527fs
SARCTCGA-X6-A8C4-01exon_skip_313884
6678163667829866782436678243Nonsense_MutationGTp.C1590*
PAADTCGA-IB-A6UF-01exon_skip_313884
6678163667829866782846678284Nonsense_MutationGAp.Q1577*
LUSCTCGA-56-5897-01exon_skip_313908
6684399668445066844396684439Nonsense_MutationGAp.Q1378*
LUSCTCGA-56-5897-01exon_skip_313909
6684399668448966844396684439Nonsense_MutationGAp.Q1378*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HLE_LIVER6710650671085667106906710690Frame_Shift_DelT-p.D549fs
SW13_ADRENAL_CORTEX6678163667829866781736678173Missense_MutationCTp.E1614K
HCC2998_LARGE_INTESTINE6678163667829866782166678216Missense_MutationCAp.K1599N
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6678163667829866782686678268Missense_MutationCTp.R1582H
LIM1215_LARGE_INTESTINE6681952668204166819806681980Missense_MutationCTp.R1441K
HARA_LUNG6684399668448966844036684403Missense_MutationTCp.T1390A
HARA_LUNG6684399668445066844036684403Missense_MutationTCp.T1390A
ECGI10_OESOPHAGUS6684399668448966844126684412Missense_MutationCGp.E1387Q
ECGI10_OESOPHAGUS6684399668445066844126684412Missense_MutationCGp.E1387Q
MDAMB330_BREAST6684399668448966844456684445Missense_MutationTAp.R1376W
MDAMB330_BREAST6684399668445066844456684445Missense_MutationTAp.R1376W
SNU81_LARGE_INTESTINE6684399668448966844466684446Missense_MutationCAp.K1375N
SNU81_LARGE_INTESTINE6684399668445066844466684446Missense_MutationCAp.K1375N
NCIH3255_LUNG6684399668448966844486684448Missense_MutationTGp.K1375Q
NCIH3255_LUNG6684399668445066844486684448Missense_MutationTGp.K1375Q
HEC6_ENDOMETRIUM6684786668484566848156684815Missense_MutationCTp.A1334T
NCIH835_LUNG6684786668484566848386684838Missense_MutationTAp.E1326V
SNU1040_LARGE_INTESTINE6690640669073866906806690680Missense_MutationGAp.S1150L
LCLC97TM1_LUNG6690640669073866907066690706Missense_MutationCAp.M1141I
HEC265_ENDOMETRIUM6690640669073866907176690717Missense_MutationCTp.E1138K
KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6690640669073866907296690729Missense_MutationGAp.R1134W
SNU407_LARGE_INTESTINE6690640669073866907296690729Missense_MutationGAp.R1134W
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6707087670728467071256707125Missense_MutationCTp.R736Q
LS1034_LARGE_INTESTINE6707087670728467071286707128Missense_MutationCTp.R735Q
MFE319_ENDOMETRIUM6707087670728467071746707174Missense_MutationATp.C720S
HH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE6707087670728467072676707268Missense_MutationCCTTp.E689K
KPNSI9S_AUTONOMIC_GANGLIA6710650671085667107126710712Missense_MutationCTp.G542S
HCC2998_LARGE_INTESTINE6710650671085667107486710748Missense_MutationGAp.R530C
NCIH2342_LUNG6710650671085667108196710819Missense_MutationTAp.Q506L
AN3CA_ENDOMETRIUM6718105671817567181246718124Missense_MutationGAp.T162M
AGS_STOMACH6718105671817567181516718151Missense_MutationTGp.N153T
AN3CA_ENDOMETRIUM6718105671817567181526718152Missense_MutationTCp.N153D
RH28_SOFT_TISSUE6718105671817567181676718167Missense_MutationGAp.R148W

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for C3

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 C3


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for C3


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RelatedDrugs for C3

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P01024DB01593ZincComplement C3small moleculeapproved|investigational
P01024DB14487Zinc acetateComplement C3small moleculeapproved|investigational
P01024DB14533Zinc chlorideComplement C3small moleculeapproved|investigational

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RelatedDiseases for C3

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
C3C0242383Age related macular degeneration4CTD_human
C3C2752037HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 52ORPHANET;UNIPROT
C3C3151071COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE2ORPHANET;UNIPROT
C3C0007787Transient Ischemic Attack1CTD_human
C3C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
C3C0017665Membranous glomerulonephritis1CTD_human
C3C0021051Immunologic Deficiency Syndromes1CTD_human
C3C0021655Insulin Resistance1CTD_human
C3C0030524Paratuberculosis1CTD_human
C3C0030807Pemphigus1CTD_human
C3C0034152Henoch-Schoenlein Purpura1CTD_human
C3C0740392Infarction, Middle Cerebral Artery1CTD_human
C3C1969651Macular Degeneration, Age-Related, 91CTD_human;UNIPROT
C3C4277682Chemical and Drug Induced Liver Injury1CTD_human