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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: 15742

FusionGeneSummary for H19_GAPDH

check button Fusion gene summary
Fusion gene informationFusion gene name: H19_GAPDH
Fusion gene ID: 15742
HgeneTgene
Gene symbol

H19

GAPDH

Gene ID

283120

2597

Gene nameH19, imprinted maternally expressed transcriptglyceraldehyde-3-phosphate dehydrogenase
SynonymsASM|ASM1|BWS|D11S813E|LINC00008|NCRNA00008|WT2G3PD|GAPD|HEL-S-162eP
Cytomap

11p15.5

12p13.31

Type of genencRNAprotein-coding
DescriptionH19, imprinted maternally expressed transcript (non-protein coding)H19, imprinted maternally expressed untranslated mRNAlong intergenic non-protein coding RNA 8glyceraldehyde-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 GAPDH
Modification date2018052720180523
UniProtAcc

P04406

Ensembl transtripts involved in fusion geneENST00000390168, ENST00000229239, 
ENST00000396856, ENST00000396861, 
ENST00000396859, ENST00000396858, 
Fusion gene scores* DoF score19 X 23 X 1=43719 X 20 X 4=1520
# samples 3020
** MAII scorelog2(30/437*10)=-0.542670779004717
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(20/1520*10)=-2.92599941855622
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: H19 [Title/Abstract] AND GAPDH [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
TgeneGAPDH

GO:0010951

negative regulation of endopeptidase activity

22832495

TgeneGAPDH

GO:0017148

negative regulation of translation

23071094

TgeneGAPDH

GO:0031640

killing of cells of other organism

22832495

TgeneGAPDH

GO:0050715

positive regulation of cytokine secretion

22832495

TgeneGAPDH

GO:0050832

defense response to fungus

22832495

TgeneGAPDH

GO:0051873

killing by host of symbiont cells

22832495

TgeneGAPDH

GO:0052501

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

22832495

TgeneGAPDH

GO:0061844

antimicrobial humoral immune response mediated by antimicrobial peptide

22832495

TgeneGAPDH

GO:0071346

cellular response to interferon-gamma

15479637


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
ChiTaRS3.1BC011866H19chr11

2017901

+GAPDHchr12

6643711

+
* 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
intron-5UTRENST00000390168ENST00000229239H19chr11

2017901

+GAPDHchr12

6643711

+
intron-5UTRENST00000390168ENST00000396856H19chr11

2017901

+GAPDHchr12

6643711

+
intron-5UTRENST00000390168ENST00000396861H19chr11

2017901

+GAPDHchr12

6643711

+
intron-intronENST00000390168ENST00000396859H19chr11

2017901

+GAPDHchr12

6643711

+
intron-intronENST00000390168ENST00000396858H19chr11

2017901

+GAPDHchr12

6643711

+

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FusionProtFeatures for H19_GAPDH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
H19

GAPDH

P04406

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. 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 H19_GAPDH


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 H19_GAPDH


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 H19_GAPDH


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGAPDHP04406DB11638ArtenimolGlyceraldehyde-3-phosphate dehydrogenasesmall moleculeapproved|investigational
TgeneGAPDHP04406DB09092XanthinolGlyceraldehyde-3-phosphate dehydrogenasesmall moleculeapproved|withdrawn

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RelatedDiseases for H19_GAPDH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneH19C0019188Hepatitis, Animal1CTD_human
HgeneH19C0023904Liver Neoplasms, Experimental1CTD_human
HgeneH19C0175693Russell-Silver syndrome1CTD_human
TgeneGAPDHC2239176Liver carcinoma2CTD_human
TgeneGAPDHC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneGAPDHC0007137Squamous cell carcinoma1CTD_human
TgeneGAPDHC0014859Esophageal Neoplasms1CTD_human
TgeneGAPDHC0026640Mouth Neoplasms1CTD_human
TgeneGAPDHC0027540Necrosis1CTD_human
TgeneGAPDHC0029408Degenerative polyarthritis1CTD_human
TgeneGAPDHC0029456Osteoporosis1CTD_human
TgeneGAPDHC0242184Hypoxia1CTD_human
TgeneGAPDHC0948089Acute Coronary Syndrome1CTD_human