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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:H19-COL1A1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: H19-COL1A1
FusionPDB ID: 35441
FusionGDB2.0 ID: 35441
HgeneTgene
Gene symbol

H19

COL1A1

Gene ID

283120

1277

Gene nameH19 imprinted maternally expressed transcriptcollagen type I alpha 1 chain
SynonymsASM|ASM1|BWS|D11S813E|LINC00008|MIR675HG|NCRNA00008|WT2CAFYD|EDSARTH1|EDSC|OI1|OI2|OI3|OI4
Cytomap

11p15.5

17q21.33

Type of genencRNAprotein-coding
DescriptionH19, imprinted maternally expressed transcript (non-protein coding)H19, imprinted maternally expressed untranslated mRNAMIR675 hostadult skeletal musclelong intergenic non-protein coding RNA 8collagen alpha-1(I) chainalpha-1 type I collagenalpha1(I) procollagencollagen alpha 1 chain type Icollagen alpha-1(I) chain preproproteincollagen of skin, tendon and bone, alpha-1 chaincollagen, type I, alpha 1pro-alpha-1 collagen type 1type I pro
Modification date2020032220200322
UniProtAcc.

P02452

Ensembl transtripts involved in fusion geneENST idsENST00000390168, ENST00000225964, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 65 X 13=1352044 X 105 X 13=60060
# samples 4080
** MAII scorelog2(40/13520*10)=-5.07895134139482
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(80/60060*10)=-6.23026066466979
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: H19 [Title/Abstract] AND COL1A1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)H19(2017353)-COL1A1(48264063), # samples:4
H19(2017357)-COL1A1(48264067), # samples:4
COL1A1(48264083)-H19(2017322), # samples:1
COL1A1(48264237)-H19(2017325), # samples:1
COL1A1(48264095)-H19(2017325), # samples:1
COL1A1(48265475)-H19(2018252), # samples:1
COL1A1(48270395)-H19(2018216), # samples:1
Anticipated loss of major functional domain due to fusion event.H19-COL1A1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
H19-COL1A1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
TgeneCOL1A1

GO:0010718

positive regulation of epithelial to mesenchymal transition

20018240

TgeneCOL1A1

GO:0030335

positive regulation of cell migration

20018240

TgeneCOL1A1

GO:0034504

protein localization to nucleus

20018240

TgeneCOL1A1

GO:0045893

positive regulation of transcription, DNA-templated

20018240

TgeneCOL1A1

GO:0090263

positive regulation of canonical Wnt signaling pathway

20018240


check buttonFusion gene breakpoints across H19 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across COL1A1 (3'-gene)
* 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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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BLCATCGA-BT-A20U-01AH19chr11

2018421

+COL1A1chr17

48261643

-
ChimerDB4BLCATCGA-GC-A3YS-01AH19chr11

2017779

+COL1A1chr17

48261761

-
ChimerDB4BLCATCGA-XF-A8HH-01AH19chr11

2018420

+COL1A1chr17

48261722

-
ChimerDB4BRCATCGA-AN-A0FN-01AH19chr11

2017975

+COL1A1chr17

48261777

-
ChimerDB4BRCATCGA-AN-A0FN-01AH19chr11

2018680

+COL1A1chr17

48262481

-
ChimerDB4BRCATCGA-AO-A0J5-01AH19chr11

2018315

+COL1A1chr17

48264104

-
ChimerDB4CESCTCGA-C5-A1M9-01AH19chr11

2018190

+COL1A1chr17

48261731

-
ChimerDB4HNSCTCGA-CN-5367-01AH19chr11

2018137

+COL1A1chr17

48263310

-
ChimerDB4HNSCTCGA-CR-6484-01AH19chr11

2018504

+COL1A1chr17

48261734

-
ChimerDB4HNSCTCGA-CV-7245-11AH19chr11

2018914

+COL1A1chr17

48261675

-
ChimerDB4LUADTCGA-86-8054-01AH19chr11

2018382

+COL1A1chr17

48262789

-
ChimerDB4LUADTCGA-99-8032-01AH19chr11

2018182

+COL1A1chr17

48261743

-
ChimerDB4LUSCTCGA-85-7697-01AH19chr11

2019005

+COL1A1chr17

48267085

-
ChimerDB4MESOTCGA-NQ-A57I-01AH19chr11

2018192

-COL1A1chr17

48262795

-
ChimerDB4OVTCGA-13-1481-01AH19chr11

2017868

+COL1A1chr17

48262949

-
ChimerDB4OVTCGA-13-1481-01AH19chr11

2017873

+COL1A1chr17

48262844

-
ChimerDB4OVTCGA-23-2081-01AH19chr11

2017353

-COL1A1chr17

48264063

-
ChimerDB4OVTCGA-23-2081-01AH19chr11

2017361

-COL1A1chr17

48264064

-
ChimerDB4OVTCGA-23-2081-01AH19chr11

2017363

-COL1A1chr17

48264071

-
ChimerDB4OVTCGA-24-1928-01AH19chr11

2016406

-COL1A1chr17

48262637

-
ChimerDB4OVTCGA-24-1928-01AH19chr11

2017353

-COL1A1chr17

48264063

-
ChimerDB4OVTCGA-24-1928-01AH19chr11

2017364

-COL1A1chr17

48264072

-
ChimerDB4OVTCGA-24-2261-01AH19chr11

2017357

-COL1A1chr17

48264067

-
ChimerDB4OVTCGA-24-2261-01AH19chr11

2017364

-COL1A1chr17

48264072

-
ChimerDB4OVTCGA-24-2289-01AH19chr11

2017357

-COL1A1chr17

48264067

-
ChimerDB4OVTCGA-24-2290-01AH19chr11

2017353

-COL1A1chr17

48264063

-
ChimerDB4OVTCGA-24-2290-01AH19chr11

2017362

-COL1A1chr17

48264070

-
ChimerDB4OVTCGA-24-2290-01AH19chr11

2018512

-COL1A1chr17

48264162

-
ChimerDB4OVTCGA-25-1635-01AH19chr11

2017353

-COL1A1chr17

48264063

-
ChimerDB4OVTCGA-25-2042-01AH19chr11

2017357

-COL1A1chr17

48264067

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2017357

-COL1A1chr17

48264067

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018076

-COL1A1chr17

48265339

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018170

-COL1A1chr17

48275360

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018190

-COL1A1chr17

48265958

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018215

-COL1A1chr17

48264480

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018270

+COL1A1chr17

48261903

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018354

-COL1A1chr17

48263317

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018403

-COL1A1chr17

48264066

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018404

-COL1A1chr17

48265340

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018440

-COL1A1chr17

48264902

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018472

-COL1A1chr17

48263198

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018537

-COL1A1chr17

48262775

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018547

-COL1A1chr17

48261782

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018667

-COL1A1chr17

48262841

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018669

-COL1A1chr17

48264465

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018682

-COL1A1chr17

48262038

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018720

-COL1A1chr17

48263211

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018741

-COL1A1chr17

48262918

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018766

-COL1A1chr17

48262810

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018932

-COL1A1chr17

48262871

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018983

+COL1A1chr17

48261765

-
ChimerDB4SARCTCGA-DX-A1KW-01AH19chr11

2017757

-COL1A1chr17

48264458

-
ChimerDB4SARCTCGA-DX-A1KW-01AH19chr11

2018665

-COL1A1chr17

48261720

-
ChimerDB4SARCTCGA-DX-A1KW-01AH19chr11

2018710

+COL1A1chr17

48261725

-
ChimerDB4SARCTCGA-IF-A3RQ-01AH19chr11

2017975

-COL1A1chr17

48270011

+
ChimerDB4SARCTCGA-IF-A3RQ-01AH19chr11

2018256

-COL1A1chr17

48264051

+
ChimerDB4THYMTCGA-XU-A92Z-01AH19chr11

2018502

+COL1A1chr17

48262706

-
ChiTaRS5.0N/AC16972H19chr11

2018944

-COL1A1chr17

48264044

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000390168H19chr112017975-ENST00000225964COL1A1chr1748270011+47859547733142543

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000390168ENST00000225964H19chr112017975-COL1A1chr1748270011+0.663350460.33664957

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>35441_35441_1_H19-COL1A1_H19_chr11_2017975_ENST00000390168_COL1A1_chr17_48270011_ENST00000225964_length(amino acids)=543AA_BP=156
MFTRFACFTWRTSRTRETSCSRGARGAKVSRNTLSTIVAGSTVGPSGTSRTRGTLHTTLARETSLASVTLRPWKTSCTTFTRHSLKARGA
LATGSSRGTSITLVTRGTSRARRTNGASQTTDAIFARRAISTFGTSITGGTTSSSGTSRAAGTTFTRGASKASRAGGTRLTTVSNGARGS
SGSGRARGTSIAFSTSITRFAFSTRLAVSTRGTSAAASTFGSRSTNITRGARRTDSASSTRETSSTSRTISTRGSFLASRARGTRGTNFT
RTSSRASLTTGTFAAFFASRTRRARGSSISRGARKTREASLSSLTRQADHTTLSSNTLRPGSTRSTLTSRFTRGSSQSRGAHGTRGTTFT
TCSRGTLFARFTLGARRTVSSRGTFGTRSPSLTTITTLASRANGARGTRSTRSTRGSSGAGLTTVTGGATGANRADRTGGTSRTRRARGT
LEAREATVTLYASVALFACLTLVTTGALGSSGTSRTRGSRGTLFTRRANRTSITSATARTRGPNGARETVESIFARSTSRARGTHSSSQS

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:2017353/chr17:48264063)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.COL1A1

P02452

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Type I collagen is a member of group I collagen (fibrillar forming collagen).

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCOL1A1chr11:2017975chr17:48270011ENST000002259640511229_146401465.0DomainFibrillar collagen NC1
TgeneCOL1A1chr11:2017975chr17:48270011ENST0000022596405138_9601465.0DomainVWFC
TgeneCOL1A1chr11:2017975chr17:48270011ENST000002259640511093_109501465.0MotifCell attachment site
TgeneCOL1A1chr11:2017975chr17:48270011ENST00000225964051745_74701465.0MotifCell attachment site
TgeneCOL1A1chr11:2017975chr17:48270011ENST000002259640511193_121801465.0RegionNote=Nonhelical region (C-terminal)
TgeneCOL1A1chr11:2017975chr17:48270011ENST00000225964051162_17801465.0RegionNote=Nonhelical region (N-terminal)
TgeneCOL1A1chr11:2017975chr17:48270011ENST00000225964051179_119201465.0RegionNote=Triple-helical region

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
COL1A1IGFBP3, TXN, ITGA2, ITGB1, NID1, Nid1, NID2, SPARC, PRELP, PKD1, VWF, THBS1, MMP2, COL7A1, MATN2, MAG, ELAVL1, ATP13A2, C12orf57, RNH1, BARD1, BRCA1, UBC, CAPN1, COL1A1, COL1A2, PDGFA, PDGFB, GIPC2, UBXN11, DNM3, CD200R1, TMTC4, ERAL1, CAMKMT, TMEM180, OTUB1, EGFR, COLGALT2, P4HA2, PLOD1, LIN9, TIMM44, RASGEF1B, TLE3, YAF2, LPAR1, CYLD, MCPH1, HEXIM1, PPP1CC, KEAP1, PINK1, CDC42, NMRAL1, PAX3, NTPCR, FOXO1, IGLC1, DDX58, YIPF1, LAIR2, LAT, KIAA1191, SLC25A40, CTNND1, FOXD3, CHMP3, ZNF645, CD247, RANBP6, TRIM41, TNFRSF10D, KIR3DS1, SMDT1, PPIA, PEG10, TMEM44, RNF144A, VCP, TESPA1, ABHD14A, TADA1, ST3GAL3, KLF15, BGN, TGM2, COL18A1, NLRP7,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
H19
COL1A1all structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to H19-COL1A1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to H19-COL1A1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOL1A1C0268358Osteogenesis imperfecta, dominant perinatal lethal38CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCOL1A1C0268362Osteogenesis imperfecta type III (disorder)17CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCOL1A1C0023931Lobstein Disease15CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCOL1A1C0268363Osteogenesis imperfecta type IV (disorder)12GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneCOL1A1C0023890Liver Cirrhosis4CTD_human
TgeneCOL1A1C0239946Fibrosis, Liver4CTD_human
TgeneCOL1A1C4551623EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE, 14CTD_human;GENOMICS_ENGLAND
TgeneCOL1A1C4552122EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 14GENOMICS_ENGLAND;UNIPROT
TgeneCOL1A1C0020497Cortical Congenital Hyperostosis3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneCOL1A1C0023893Liver Cirrhosis, Experimental3CTD_human
TgeneCOL1A1C0268345EHLERS-DANLOS SYNDROME, ARTHROCHALASIA TYPE2ORPHANET
TgeneCOL1A1C0000786Spontaneous abortion1CTD_human
TgeneCOL1A1C0000822Abortion, Tubal1CTD_human
TgeneCOL1A1C0002949Aneurysm, Dissecting1CTD_human
TgeneCOL1A1C0003504Aortic Valve Insufficiency1CTD_human
TgeneCOL1A1C0004364Autoimmune Diseases1CTD_human
TgeneCOL1A1C0005398Cholestasis, Extrahepatic1CTD_human
TgeneCOL1A1C0005779Blood Coagulation Disorders1GENOMICS_ENGLAND
TgeneCOL1A1C0006663Calcinosis1CTD_human
TgeneCOL1A1C0008311Cholangitis1CTD_human
TgeneCOL1A1C0013720Ehlers-Danlos Syndrome1GENOMICS_ENGLAND
TgeneCOL1A1C0016059Fibrosis1CTD_human
TgeneCOL1A1C0018824Heart valve disease1CTD_human
TgeneCOL1A1C0020538Hypertensive disease1CTD_human
TgeneCOL1A1C0022548Keloid1CTD_human
TgeneCOL1A1C0027719Nephrosclerosis1CTD_human
TgeneCOL1A1C0027726Nephrotic Syndrome1CTD_human
TgeneCOL1A1C0029172Oral Submucous Fibrosis1CTD_human
TgeneCOL1A1C0029434Osteogenesis Imperfecta1CTD_human;GENOMICS_ENGLAND
TgeneCOL1A1C0149721Left Ventricular Hypertrophy1CTD_human
TgeneCOL1A1C0220679Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified1ORPHANET
TgeneCOL1A1C0263628Tumoral calcinosis1CTD_human
TgeneCOL1A1C0340643Dissection of aorta1CTD_human
TgeneCOL1A1C0521174Microcalcification1CTD_human
TgeneCOL1A1C1458140Bleeding tendency1GENOMICS_ENGLAND
TgeneCOL1A1C1619692Nephrogenic Fibrosing Dermopathy1CTD_human
TgeneCOL1A1C1623038Cirrhosis1CTD_human
TgeneCOL1A1C1846545Autoimmune Lymphoproliferative Syndrome Type 2B1GENOMICS_ENGLAND
TgeneCOL1A1C3830362Early Pregnancy Loss1CTD_human
TgeneCOL1A1C4277533Dissection, Blood Vessel1CTD_human
TgeneCOL1A1C4552766Miscarriage1CTD_human