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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 4975

FusionGeneSummary for C3_GALNT6

check button Fusion gene summary
Fusion gene informationFusion gene name: C3_GALNT6
Fusion gene ID: 4975
HgeneTgene
Gene symbol

C3

GALNT6

Gene ID

718

11226

Gene namecomplement C3polypeptide N-acetylgalactosaminyltransferase 6
SynonymsAHUS5|ARMD9|ASP|C3a|C3b|CPAMD1|HEL-S-62pGALNAC-T6|GalNAcT6
Cytomap

19p13.3

12q13.13

Type of geneprotein-codingprotein-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 prpolypeptide N-acetylgalactosaminyltransferase 6GalNAc transferase 6UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 6UDP-N-acetyl-alpha-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 6UDP-N-acetyl-alpha-D-galactosamine:polypept
Modification date2018051920180523
UniProtAcc

P01024

Q8NCL4

Ensembl transtripts involved in fusion geneENST00000245907, ENST00000599668, 
ENST00000543196, ENST00000356317, 
ENST00000603203, 
Fusion gene scores* DoF score20 X 13 X 8=20803 X 3 X 2=18
# samples 213
** MAII scorelog2(21/2080*10)=-3.30812229536233
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: C3 [Title/Abstract] AND GALNT6 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneC3

GO:0001934

positive regulation of protein phosphorylation

15833747

HgeneC3

GO:0010575

positive regulation of vascular endothelial growth factor production

16452172

HgeneC3

GO:0010828

positive regulation of glucose transmembrane transport

9059512|15833747

HgeneC3

GO:0010866

regulation of triglyceride biosynthetic process

10432298

HgeneC3

GO:0010884

positive regulation of lipid storage

9555951

HgeneC3

GO:0045745

positive regulation of G-protein coupled receptor protein signaling pathway

15833747


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AK225124C3chr19

6714364

-GALNT6chr12

51758061

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
Frame-shitENST00000245907ENST00000543196C3chr19

6714364

-GALNT6chr12

51758061

-
Frame-shitENST00000245907ENST00000356317C3chr19

6714364

-GALNT6chr12

51758061

-
5CDS-intronENST00000245907ENST00000603203C3chr19

6714364

-GALNT6chr12

51758061

-
intron-3CDSENST00000599668ENST00000543196C3chr19

6714364

-GALNT6chr12

51758061

-
intron-3CDSENST00000599668ENST00000356317C3chr19

6714364

-GALNT6chr12

51758061

-
intron-intronENST00000599668ENST00000603203C3chr19

6714364

-GALNT6chr12

51758061

-

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FusionProtFeatures for C3_GALNT6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C3

P01024

GALNT6

Q8NCL4

C3 plays a central role in the activation of thecomplement system. Its processing by C3 convertase is the centralreaction in both classical and alternative complement pathways.After activation C3b can bind covalently, via its reactivethioester, to cell surface carbohydrates or immune aggregates. Derived from proteolytic degradation of complement C3,C3a anaphylatoxin is a mediator of local inflammatory process. Inchronic inflammation, acts as a chemoattractant for neutrophils(By similarity). It induces the contraction of smooth muscle,increases vascular permeability and causes histamine release frommast cells and basophilic leukocytes. {ECO:0000250}. C3-beta-c: Acts as a chemoattractant for neutrophils inchronic inflammation. {ECO:0000250}. Acylation stimulating protein: adipogenic hormone thatstimulates triglyceride (TG) synthesis and glucose transport inadipocytes, regulating fat storage and playing a role inpostprandial TG clearance. Appears to stimulate TG synthesis viaactivation of the PLC, MAPK and AKT signaling pathways. Ligand forC5AR2. Promotes the phosphorylation, ARRB2-mediatedinternalization and recycling of C5AR2 (PubMed:8376604,PubMed:2909530, PubMed:9059512, PubMed:10432298, PubMed:15833747,PubMed:16333141, PubMed:19615750). {ECO:0000269|PubMed:10432298,ECO:0000269|PubMed:15833747, ECO:0000269|PubMed:16333141,ECO:0000269|PubMed:19615750, ECO:0000269|PubMed:2909530,ECO:0000269|PubMed:8376604, ECO:0000269|PubMed:9059512}. Catalyzes the initial reaction in O-linkedoligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on theprotein receptor. May participate in synthesis of oncofetalfibronectin. Has activity toward Muc1a, Muc2, EA2 and fibronectinpeptides.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for C3_GALNT6


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for C3_GALNT6


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for C3_GALNT6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneC3P01024DB01593ZincComplement C3small moleculeapproved|investigational

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RelatedDiseases for C3_GALNT6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC3C0242383Age related macular degeneration4CTD_human
HgeneC3C2752037HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 52ORPHANET;UNIPROT
HgeneC3C3151071COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE2ORPHANET;UNIPROT
HgeneC3C0007787Transient Ischemic Attack1CTD_human
HgeneC3C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneC3C0017665Membranous glomerulonephritis1CTD_human
HgeneC3C0021051Immunologic Deficiency Syndromes1CTD_human
HgeneC3C0021655Insulin Resistance1CTD_human
HgeneC3C0030524Paratuberculosis1CTD_human
HgeneC3C0030807Pemphigus1CTD_human
HgeneC3C0034152Henoch-Schoenlein Purpura1CTD_human
HgeneC3C0740392Infarction, Middle Cerebral Artery1CTD_human
HgeneC3C1969651Macular Degeneration, Age-Related, 91CTD_human;UNIPROT
HgeneC3C4277682Chemical and Drug Induced Liver Injury1CTD_human