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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: 14368

FusionGeneSummary for GAPDH_SON

check button Fusion gene summary
Fusion gene informationFusion gene name: GAPDH_SON
Fusion gene ID: 14368
HgeneTgene
Gene symbol

GAPDH

SON

Gene ID

2597

6651

Gene nameglyceraldehyde-3-phosphate dehydrogenaseSON DNA binding protein
SynonymsG3PD|GAPD|HEL-S-162ePBASS1|C21orf50|DBP-5|NREBP|SON3|TOKIMS
Cytomap

12p13.31

21q22.11

Type of geneprotein-codingprotein-coding
Descriptionglyceraldehyde-3-phosphate dehydrogenaseOCAS, p38 componentOct1 coactivator in S phase, 38 Kd componentaging-associated gene 9 proteinepididymis secretory sperm binding protein Li 162ePpeptidyl-cysteine S-nitrosylase GAPDHprotein SONBax antagonist selected in Saccharomyces 1NRE-binding proteinnegative regulatory element-binding protein
Modification date2018052320180523
UniProtAcc

P04406

P18583

Ensembl transtripts involved in fusion geneENST00000229239, ENST00000396856, 
ENST00000396861, ENST00000396859, 
ENST00000396858, 
ENST00000356577, 
ENST00000290239, ENST00000381692, 
ENST00000300278, ENST00000381679, 
ENST00000470533, 
Fusion gene scores* DoF score18 X 18 X 6=19447 X 6 X 3=126
# samples 267
** MAII scorelog2(26/1944*10)=-2.90244469057733
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GAPDH [Title/Abstract] AND SON [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
HgeneGAPDH

GO:0010951

negative regulation of endopeptidase activity

22832495

HgeneGAPDH

GO:0017148

negative regulation of translation

23071094

HgeneGAPDH

GO:0031640

killing of cells of other organism

22832495

HgeneGAPDH

GO:0050715

positive regulation of cytokine secretion

22832495

HgeneGAPDH

GO:0050832

defense response to fungus

22832495

HgeneGAPDH

GO:0051873

killing by host of symbiont cells

22832495

HgeneGAPDH

GO:0052501

positive regulation by organism of apoptotic process in other organism involved in symbiotic interaction

22832495

HgeneGAPDH

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

22832495

HgeneGAPDH

GO:0071346

cellular response to interferon-gamma

15479637

TgeneSON

GO:0006397

mRNA processing

21504830

TgeneSON

GO:0043066

negative regulation of apoptotic process

10509013

TgeneSON

GO:0048024

regulation of mRNA splicing, via spliceosome

21504830


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
ChiTaRS3.1DA446259GAPDHchr12

6645897

+SONchr21

34927473

+
* 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-shiftENST00000229239ENST00000356577GAPDHchr12

6645897

+SONchr21

34927473

+
Frame-shiftENST00000229239ENST00000290239GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000229239ENST00000381692GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000229239ENST00000300278GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000229239ENST00000381679GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000229239ENST00000470533GAPDHchr12

6645897

+SONchr21

34927473

+
5UTR-3CDSENST00000396856ENST00000356577GAPDHchr12

6645897

+SONchr21

34927473

+
5UTR-3CDSENST00000396856ENST00000290239GAPDHchr12

6645897

+SONchr21

34927473

+
5UTR-intronENST00000396856ENST00000381692GAPDHchr12

6645897

+SONchr21

34927473

+
5UTR-intronENST00000396856ENST00000300278GAPDHchr12

6645897

+SONchr21

34927473

+
5UTR-intronENST00000396856ENST00000381679GAPDHchr12

6645897

+SONchr21

34927473

+
5UTR-intronENST00000396856ENST00000470533GAPDHchr12

6645897

+SONchr21

34927473

+
Frame-shiftENST00000396861ENST00000356577GAPDHchr12

6645897

+SONchr21

34927473

+
Frame-shiftENST00000396861ENST00000290239GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000396861ENST00000381692GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000396861ENST00000300278GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000396861ENST00000381679GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000396861ENST00000470533GAPDHchr12

6645897

+SONchr21

34927473

+
Frame-shiftENST00000396859ENST00000356577GAPDHchr12

6645897

+SONchr21

34927473

+
Frame-shiftENST00000396859ENST00000290239GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000396859ENST00000381692GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000396859ENST00000300278GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000396859ENST00000381679GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000396859ENST00000470533GAPDHchr12

6645897

+SONchr21

34927473

+
Frame-shiftENST00000396858ENST00000356577GAPDHchr12

6645897

+SONchr21

34927473

+
Frame-shiftENST00000396858ENST00000290239GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000396858ENST00000381692GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000396858ENST00000300278GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000396858ENST00000381679GAPDHchr12

6645897

+SONchr21

34927473

+
5CDS-intronENST00000396858ENST00000470533GAPDHchr12

6645897

+SONchr21

34927473

+

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FusionProtFeatures for GAPDH_SON


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

P04406

SON

P18583

Has both glyceraldehyde-3-phosphate dehydrogenase andnitrosylase activities, thereby playing a role in glycolysis andnuclear functions, respectively. Participates in nuclear eventsincluding transcription, RNA transport, DNA replication andapoptosis. Nuclear functions are probably due to the nitrosylaseactivity that mediates cysteine S-nitrosylation of nuclear targetproteins such as SIRT1, HDAC2 and PRKDC. Modulates theorganization and assembly of the cytoskeleton. Facilitates theCHP1-dependent microtubule and membrane associations through itsability to stimulate the binding of CHP1 to microtubules (Bysimilarity). Glyceraldehyde-3-phosphate dehydrogenase is a keyenzyme in glycolysis that catalyzes the first step of the pathwayby converting D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediatesinterferon-gamma-induced transcript-selective translationinhibition in inflammation processes. Upon interferon-gammatreatment assembles into the GAIT complex which binds to stemloop-containing GAIT elements in the 3'-UTR of diverseinflammatory mRNAs (such as ceruplasmin) and suppresses theirtranslation. {ECO:0000250, ECO:0000269|PubMed:11724794,ECO:0000269|PubMed:23071094, ECO:0000269|PubMed:3170585}.

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 GAPDH_SON


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 GAPDH_SON


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 GAPDH_SON


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneGAPDHP04406DB11638ArtenimolGlyceraldehyde-3-phosphate dehydrogenasesmall moleculeapproved|investigational
HgeneGAPDHP04406DB09092XanthinolGlyceraldehyde-3-phosphate dehydrogenasesmall moleculeapproved|withdrawn

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RelatedDiseases for GAPDH_SON


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGAPDHC2239176Liver carcinoma2CTD_human
HgeneGAPDHC0001973Alcoholic Intoxication, Chronic1PSYGENET
HgeneGAPDHC0007137Squamous cell carcinoma1CTD_human
HgeneGAPDHC0014859Esophageal Neoplasms1CTD_human
HgeneGAPDHC0026640Mouth Neoplasms1CTD_human
HgeneGAPDHC0027540Necrosis1CTD_human
HgeneGAPDHC0029408Degenerative polyarthritis1CTD_human
HgeneGAPDHC0029456Osteoporosis1CTD_human
HgeneGAPDHC0242184Hypoxia1CTD_human
HgeneGAPDHC0948089Acute Coronary Syndrome1CTD_human
TgeneSONC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneSONC0036095Salivary Gland Neoplasms1CTD_human