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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:H19-COL1A1 (FusionGDB2 ID:35311)

Fusion Gene Summary for H19-COL1A1

check button Fusion gene summary
Fusion gene informationFusion gene name: H19-COL1A1
Fusion gene ID: 35311
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 geneENST00000390168, ENST00000225964, 
Fusion gene scores* 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

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

Most frequent breakpointH19(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.
* 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.

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.

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
ChimerDB4OVTCGA-24-1928-01AH19chr11

2017353

-COL1A1chr17

48264063

-
ChimerDB4OVTCGA-24-1928-01AH19chr11

2017364

-COL1A1chr17

48264072

-
ChimerDB4OVTCGA-24-1928-01AH19chr11

2016406

-COL1A1chr17

48262637

-
ChimerDB4OVTCGA-23-2081-01AH19chr11

2017353

-COL1A1chr17

48264063

-
ChimerDB4OVTCGA-23-2081-01AH19chr11

2017363

-COL1A1chr17

48264071

-
ChimerDB4OVTCGA-23-2081-01AH19chr11

2017361

-COL1A1chr17

48264064

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2017357

-COL1A1chr17

48264067

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018440

-COL1A1chr17

48264902

-
ChimerDB4OVTCGA-25-1635-01AH19chr11

2017353

-COL1A1chr17

48264063

-
ChimerDB4OVTCGA-24-2261-01AH19chr11

2017364

-COL1A1chr17

48264072

-
ChimerDB4OVTCGA-24-2261-01AH19chr11

2017357

-COL1A1chr17

48264067

-
ChimerDB4OVTCGA-24-2289-01AH19chr11

2017357

-COL1A1chr17

48264067

-
ChimerDB4OVTCGA-25-2042-01AH19chr11

2017357

-COL1A1chr17

48264067

-
ChimerDB4OVTCGA-24-2290-01AH19chr11

2017353

-COL1A1chr17

48264063

-
ChimerDB4OVTCGA-24-2290-01AH19chr11

2017362

-COL1A1chr17

48264070

-
ChimerDB4LUADTCGA-99-8032-01AH19chr11

2018182

+COL1A1chr17

48261743

-
ChimerDB4LUADTCGA-86-8054-01AH19chr11

2018382

+COL1A1chr17

48262789

-
ChimerDB4CESCTCGA-C5-A1M9-01AH19chr11

2018190

+COL1A1chr17

48261731

-
ChimerDB4BLCATCGA-BT-A20U-01AH19chr11

2018421

+COL1A1chr17

48261643

-
ChimerDB4BLCATCGA-GC-A3YS-01AH19chr11

2017779

+COL1A1chr17

48261761

-
ChimerDB4BLCATCGA-XF-A8HH-01AH19chr11

2018420

+COL1A1chr17

48261722

-
ChimerDB4SARCTCGA-IF-A3RQ-01AH19chr11

2017975

-COL1A1chr17

48270011

+
ChimerDB4SARCTCGA-IF-A3RQ-01AH19chr11

2018256

-COL1A1chr17

48264051

+
ChimerDB4SARCTCGA-DX-A1KW-01AH19chr11

2018710

+COL1A1chr17

48261725

-
ChimerDB4SARCTCGA-DX-A1KW-01AH19chr11

2017757

-COL1A1chr17

48264458

-
ChimerDB4SARCTCGA-DX-A1KW-01AH19chr11

2018665

-COL1A1chr17

48261720

-
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

2018354

-COL1A1chr17

48263317

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018403

-COL1A1chr17

48264066

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018404

-COL1A1chr17

48265340

-
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-13-1481-01AH19chr11

2017868

+COL1A1chr17

48262949

-
ChimerDB4OVTCGA-13-1481-01AH19chr11

2017873

+COL1A1chr17

48262844

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018270

+COL1A1chr17

48261903

-
ChimerDB4OVTCGA-29-1698-01AH19chr11

2018983

+COL1A1chr17

48261765

-
ChimerDB4OVTCGA-24-2290-01AH19chr11

2018512

-COL1A1chr17

48264162

-
ChimerDB4HNSCTCGA-CR-6484-01AH19chr11

2018504

+COL1A1chr17

48261734

-
ChimerDB4HNSCTCGA-CV-7245-11AH19chr11

2018914

+COL1A1chr17

48261675

-
ChimerDB4HNSCTCGA-CN-5367-01AH19chr11

2018137

+COL1A1chr17

48263310

-
ChimerDB4THYMTCGA-XU-A92Z-01AH19chr11

2018502

+COL1A1chr17

48262706

-
ChimerDB4MESOTCGA-NQ-A57I-01AH19chr11

2018192

-COL1A1chr17

48262795

-
ChimerDB4BRCATCGA-AO-A0J5-01AH19chr11

2018315

+COL1A1chr17

48264104

-
ChimerDB4BRCATCGA-AN-A0FN-01AH19chr11

2017975

+COL1A1chr17

48261777

-
ChimerDB4BRCATCGA-AN-A0FN-01AH19chr11

2018680

+COL1A1chr17

48262481

-
ChimerDB4LUSCTCGA-85-7697-01AH19chr11

2019005

+COL1A1chr17

48267085

-
ChiTaRS5.0N/AC16972H19chr11

2018944

-COL1A1chr17

48264044

-


Top

Fusion Gene ORF analysis for H19-COL1A1

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-3CDSENST00000390168ENST00000225964H19chr11

2017353

-COL1A1chr17

48264063

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2017364

-COL1A1chr17

48264072

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2016406

-COL1A1chr17

48262637

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2017363

-COL1A1chr17

48264071

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2017361

-COL1A1chr17

48264064

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2017357

-COL1A1chr17

48264067

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018440

-COL1A1chr17

48264902

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2017362

-COL1A1chr17

48264070

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018182

+COL1A1chr17

48261743

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018382

+COL1A1chr17

48262789

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018190

+COL1A1chr17

48261731

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018421

+COL1A1chr17

48261643

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2017779

+COL1A1chr17

48261761

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018420

+COL1A1chr17

48261722

-
In-frameENST00000390168ENST00000225964H19chr11

2017975

-COL1A1chr17

48270011

+
intron-3CDSENST00000390168ENST00000225964H19chr11

2018256

-COL1A1chr17

48264051

+
intron-3UTRENST00000390168ENST00000225964H19chr11

2018710

+COL1A1chr17

48261725

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2017757

-COL1A1chr17

48264458

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018665

-COL1A1chr17

48261720

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018076

-COL1A1chr17

48265339

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018170

-COL1A1chr17

48275360

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018190

-COL1A1chr17

48265958

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018215

-COL1A1chr17

48264480

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018354

-COL1A1chr17

48263317

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018403

-COL1A1chr17

48264066

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018404

-COL1A1chr17

48265340

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018472

-COL1A1chr17

48263198

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018537

-COL1A1chr17

48262775

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018547

-COL1A1chr17

48261782

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018667

-COL1A1chr17

48262841

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018669

-COL1A1chr17

48264465

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018682

-COL1A1chr17

48262038

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018720

-COL1A1chr17

48263211

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018741

-COL1A1chr17

48262918

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018766

-COL1A1chr17

48262810

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018932

-COL1A1chr17

48262871

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2017868

+COL1A1chr17

48262949

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2017873

+COL1A1chr17

48262844

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018270

+COL1A1chr17

48261903

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018983

+COL1A1chr17

48261765

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018512

-COL1A1chr17

48264162

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018504

+COL1A1chr17

48261734

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018914

+COL1A1chr17

48261675

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018137

+COL1A1chr17

48263310

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018502

+COL1A1chr17

48262706

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018192

-COL1A1chr17

48262795

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018315

+COL1A1chr17

48264104

-
5CDS-3UTRENST00000390168ENST00000225964H19chr11

2017975

+COL1A1chr17

48261777

-
intron-3UTRENST00000390168ENST00000225964H19chr11

2018680

+COL1A1chr17

48262481

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2019005

+COL1A1chr17

48267085

-
intron-3CDSENST00000390168ENST00000225964H19chr11

2018944

-COL1A1chr17

48264044

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
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 Genomic Features for H19-COL1A1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for H19-COL1A1


check button Go to

FGviewer for the breakpoints of chr11:2017975-chr17:48270011

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
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.
- In-frame and 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

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


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Fusion Gene Sequence for H19-COL1A1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>In-frame_ENST00000390168_ENST00000225964_TCGA-IF-A3RQ-01A_H19_chr11_2017975_-_COL1A1_chr17_48270011_length(transcript)=4785nt_BP=95nt
CGAGGCACTGCGGCCCAGGGTCTGGTGCGGAGAGGGCCCACAGTGGACTTGGTGACGCTGTATGCCCTCACCGCTCAGCCCCTGGGGCTG
GCTTGAGTCACACCGGAGCCTGGGGCAAGACAGTGATTGAATACAAAACCACCAAGACCTCCCGCCTGCCCATCATCGATGTGGCCCCCT
TGGACGTTGGTGCCCCAGACCAGGAATTCGGCTTCGACGTTGGCCCTGTCTGCTTCCTGTAAACTCCCTCCATCCCAACCTGGCTCCCTC
CCACCCAACCAACTTTCCCCCCAACCCGGAAACAGACAAGCAACCCAAACTGAACCCCCTCAAAAGCCAAAAAATGGGAGACAATTTCAC
ATGGACTTTGGAAAATATTTTTTTCCTTTGCATTCATCTCTCAAACTTAGTTTTTATCTTTGACCAACCGAACATGACCAAAAACCAAAA
GTGCATTCAACCTTACCAAAAAAAAAAAAAAAAAAAGAATAAATAAATAACTTTTTAAAAAAGGAAGCTTGGTCCACTTGCTTGAAGACC
CATGCGGGGGTAAGTCCCTTTCTGCCCGTTGGGCTTATGAAACCCCAATGCTGCCCTTTCTGCTCCTTTCTCCACACCCCCCTTGGGGCC
TCCCCTCCACTCCTTCCCAAATCTGTCTCCCCAGAAGACACAGGAAACAATGTATTGTCTGCCCAGCAATCAAAGGCAATGCTCAAACAC
CCAAGTGGCCCCCACCCTCAGCCCGCTCCTGCCCGCCCAGCACCCCCAGGCCCTGGGGGACCTGGGGTTCTCAGACTGCCAAAGAAGCCT
TGCCATCTGGCGCTCCCATGGCTCTTGCAACATCTCCCCTTCGTTTTTGAGGGGGTCATGCCGGGGGAGCCACCAGCCCCTCACTGGGTT
CGGAGGAGAGTCAGGAAGGGCCACGACAAAGCAGAAACATCGGATTTGGGGAACGCGTGTCAATCCCTTGTGCCGCAGGGCTGGGCGGGA
GAGACTGTTCTGTTCCTTGTGTAACTGTGTTGCTGAAAGACTACCTCGTTCTTGTCTTGATGTGTCACCGGGGCAACTGCCTGGGGGCGG
GGATGGGGGCAGGGTGGAAGCGGCTCCCCATTTTATACCAAAGGTGCTACATCTATGTGATGGGTGGGGTGGGGAGGGAATCACTGGTGC
TATAGAAATTGAGATGCCCCCCCAGGCCAGCAAATGTTCCTTTTTGTTCAAAGTCTATTTTTATTCCTTGATATTTTTCTTTTTTTTTTT
TTTTTTTTGTGGATGGGGACTTGTGAATTTTTCTAAAGGTGCTATTTAACATGGGAGGAGAGCGTGTGCGGCTCCAGCCCAGCCCGCTGC
TCACTTTCCACCCTCTCTCCACCTGCCTCTGGCTTCTCAGGCCTCTGCTCTCCGACCTCTCTCCTCTGAAACCCTCCTCCACAGCTGCAG
CCCATCCTCCCGGCTCCCTCCTAGTCTGTCCTGCGTCCTCTGTCCCCGGGTTTCAGAGACAACTTCCCAAAGCACAAAGCAGTTTTTCCC
CCTAGGGGTGGGAGGAAGCAAAAGACTCTGTACCTATTTTGTATGTGTATAATAATTTGAGATGTTTTTAATTATTTTGATTGCTGGAAT
AAAGCATGTGGAAATGACCCAAACATAATCCGCAGTGGCCTCCTAATTTCCTTCTTTGGAGTTGGGGGAGGGGTAGACATGGGGAAGGGG
CTTTGGGGTGATGGGCTTGCCTTCCATTCCTGCCCTTTCCCTCCCCACTATTCTCTTCTAGATCCCTCCATAACCCCACTCCCCTTTCTC
TCACCCTTCTTATACCGCAAACCTTTCTACTTCCTCTTTCATTTTCTATTCTTGCAATTTCCTTGCACCTTTTCCAAATCCTCTTCTCCC
CTGCAATACCATACAGGCAATCCACGTGCACAACACACACACACACTCTTCACATCTGGGGTTGTCCAAACCTCATACCCACTCCCCTTC
AAGCCCATCCACTCTCCACCCCCTGGATGCCCTGCACTTGGTGGCGGTGGGATGCTCATGGATACTGGGAGGGTGAGGGGAGTGGAACCC
GTGAGGAGGACCTGGGGGCCTCTCCTTGAACTGACATGAAGGGTCATCTGGCCTCTGCTCCCTTCTCACCCACGCTGACCTCCTGCCGAA
GGAGCAACGCAACAGGAGAGGGGTCTGCTGAGCCTGGCGAGGGTCTGGGAGGGACCAGGAGGAAGGCGTGCTCCCTGCTCGCTGTCCTGG
CCCTGGGGGAGTGAGGGAGACAGACACCTGGGAGAGCTGTGGGGAAGGCACTCGCACCGTGCTCTTGGGAAGGAAGGAGACCTGGCCCTG
CTCACCACGGACTGGGTGCCTCGACCTCCTGAATCCCCAGAACACAACCCCCCTGGGCTGGGGTGGTCTGGGGAACCATCGTGCCCCCGC
CTCCCGCCTACTCCTTTTTAAGCTTTTCGAGTATGGCGGCCAGGGCTCCGACCCTGCCGATGTGGCCATCCAGCTGACCTTCCTGCGCCT
GATGTCCACCGAGGCCTCCCAGAACATCACCTACCACTGCAAGAACAGCGTGGCCTACATGGACCAGCAGACTGGCAACCTCAAGAAGGC
CCTGCTCCTCCAGGGCTCCAACGAGATCGAGATCCGCGCCGAGGGCAACAGCCGCTTCACCTACAGCGTCACTGTCGATGGCTGCACGGA
GAGTACTGGATTGACCCCAACCAAGGCTGCAACCTGGATGCCATCAAAGTCTTCTGCAACATGGAGACTGGTGAGACCTGCGTGTACCCC
ACTCAGCCCAGTGTGGCCCAGAAGAACTGGTACATCAGCAAGAACCCCAAGGACAAGAGGCATGTCTGGTTCGGCGAGAGCATGACCGAT
GGATTCCAGGGTCCCCCCGGCCCTCCTGGACCTCCTGGTCCCCCTGGTCCTCCCAGCGCTGGTTTCGACTTCAGCTTCCTGCCCCAGCCA
CCTCAAGAGAAGGCTCACGATGGTGGCCGCTACTACCGGGCTGATGATGCCAATGTGGTTCGTGACCGTGACCTCGAGGTGGACACCACC
CTCAAGAGCCTGAGCCAGCAGATCGAGAACATCCGGAGCCCAGAGGGCAGCCGCAAGAACCCCGCCCGCACCTGCCGTGACCTCAAGATG
TGCCACTCTGACTGGAAGAGTGGGTCCCCCTGGCTCTGCTGGTGCTCCTGGCAAAGATGGACTCAACGGTCTCCCTGGCCCCATTGGGCC
CCCTGGTCCTCGCGGTCGCACTGGTGATGCTGGTCCTGTTGGCTCTCCTGGTGAACAAGGTCCCTCTGGAGCCTCTGGTCCTGCTGGTCC
CCGAGGACCCCAAGGCCCCCGTGGTGACAAGGGTGAGACAGGCGAACAGGGCGACAGAGGCATAAAGGGTCACCGTGGCTTCTCTGGCCT
CCAGGGTCCCCCTGGCCCTCCTGGTCCTGCTGGTCCCACCGGTCCTGTCGGCCCTGTTGGCGCCCGTGGCCCCGCCGGTGACCGTGGTGA
GACCGGCCCCGCTGGACCCCCTGGTGCTCCTGGTGCTCCTGGTGCCCCTGGCCCCGTTGGCCCTGCTGGCAAGAGTGGTGATCGTGGTGA
GACTGGGGCTCCTGGTGCCGAAGGTTCCCCTGGACGAGACGGTTCTCCTGGCGCCAAGGGTGAACCTGGCAAACAAGGTCCCTCTGGAGC
AAGTGGTGAACGTGGTCCCCCTGGTCCCATGGGCCCCCCTGGATTGGCTGGACCCCCTGGTGAATCTGGACGTGAGGGTGCTCCTGGTAC
TCCCGGGCCTCAAGGTATTGCTGGACAGCGTGGTGTGGTCGGCCTGCCTGGTCAGAGAGGAGAGAGAGGCTTCCCTGGTCTTCCTGGCCC
CTCTGGAAATGCTGGACCCCCTGGCCCTCCTGGTCCTGCTGGCAAAGAAGGCGGCAAAGGTCCCCGTGGTGAGACTGGCCCTGCTGGACG
TCCTGGTGAAGTTGGTCCCCCTGGTCCCCCTGGCCCTGCTGGCGAGAAAGGATCCCCTGGTGCTGATGGTCCTGCTGGTGCTACTGGTTT
CCCTGGTGCTGCTGGCCGAGTCGGTCCTCCTGGCCCCTCTGGTAATGTTGGTGCTCCTGGAGCCAAAGGTGCTCGCGGCAGCGCTGGTCC
CCCTGGTGCTGACGGCCAACCTGGTGCTAAAGGCGAACCTGGTGATGCTGGTGCTAAAGGCGATGCTGGTCCCCCTGGCCCTGCCGGACC
CGCTGGACCCCCTGGCCCCATTGGAGACCGTGGTGAGCCTGGTCCCCCCGGCCCTGCTGGCTTTGCTGGCCCCCCTGGTGAAAGTGGTCC
CAGCGGCCCTGCTGGTCCCACTGGAGCTCGTGGTGCCCCCGGTGATGCTGGTCCCAAAGGTGCTGATGGCTCTCCTGGCAAAGATGGCGT
CCGTGGTCTGACTGGCCCCATTGGTCCTCCTGGCCCTGCTGGTGCCCCTGGTGACAAGGGTGATGCTGGTGCCCCTGGAGCTCCCGGTAG
CCAGGGCGCCCCTGGCCTTCAGGGAATGCCTGGTGAACGTGGTGCAGCTGGTCTTCCAGGGCCTAAGGGTGACAGAGGCGAGAGAGGTTT
CCCTGGCGAGCGTGGTGTGCAAGGTCCCCCTGGTCCTGCTGGTCCCCGAGGGGCCAACGGTGCTCCCGGCAACGATGGTGCTAAGGGTGT
TCCTGGAGACCTTGGCGCCCCTGGCCCCTCTGGAGCAAGAGGTCTCCCTGGTCCTGCTGGTCCTCCAGGTGAAGCAGGCAAACCTGGTGA

>In-frame_ENST00000390168_ENST00000225964_TCGA-IF-A3RQ-01A_H19_chr11_2017975_-_COL1A1_chr17_48270011_length(amino acids)=543AA_start in transcript=4773_stop in transcript=3142
MFTRFACFTWRTSRTRETSCSRGARGAKVSRNTLSTIVAGSTVGPSGTSRTRGTLHTTLARETSLASVTLRPWKTSCTTFTRHSLKARGA
LATGSSRGTSITLVTRGTSRARRTNGASQTTDAIFARRAISTFGTSITGGTTSSSGTSRAAGTTFTRGASKASRAGGTRLTTVSNGARGS
SGSGRARGTSIAFSTSITRFAFSTRLAVSTRGTSAAASTFGSRSTNITRGARRTDSASSTRETSSTSRTISTRGSFLASRARGTRGTNFT
RTSSRASLTTGTFAAFFASRTRRARGSSISRGARKTREASLSSLTRQADHTTLSSNTLRPGSTRSTLTSRFTRGSSQSRGAHGTRGTTFT
TCSRGTLFARFTLGARRTVSSRGTFGTRSPSLTTITTLASRANGARGTRSTRSTRGSSGAGLTTVTGGATGANRADRTGGTSRTRRARGT
LEAREATVTLYASVALFACLTLVTTGALGSSGTSRTRGSRGTLFTRRANRTSITSATARTRGPNGARETVESIFARSTSRARGTHSSSQS

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Fusion Gene PPI Analysis for H19-COL1A1


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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Related Drugs for H19-COL1A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCOL1A1P02452DB00048Collagenase clostridium histolyticumBinderBiotechApproved|Investigational
TgeneCOL1A1P02452DB12872Vonicog AlfaBinderBiotechApproved|Investigational
TgeneCOL1A1P02452DB13133Von Willebrand Factor HumanBinderBiotechApproved|Investigational
TgeneCOL1A1P02452DB11338Clove oilBiotechApproved|Nutraceutical
TgeneCOL1A1P02452DB04866HalofuginoneSmall moleculeInvestigational|Vet_approved

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Related Diseases for H19-COL1A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneH19C0332890Congenital hemihypertrophy3ORPHANET
HgeneH19C1856184HEMIHYPERPLASIA, ISOLATED3ORPHANET
HgeneH19C0175693Russell-Silver syndrome2CTD_human;GENOMICS_ENGLAND
HgeneH19C0006142Malignant neoplasm of breast1CTD_human
HgeneH19C0019188Hepatitis, Animal1CTD_human
HgeneH19C0019193Hepatitis, Toxic1CTD_human
HgeneH19C0019207Hepatoma, Morris1CTD_human
HgeneH19C0019208Hepatoma, Novikoff1CTD_human
HgeneH19C0023904Liver Neoplasms, Experimental1CTD_human
HgeneH19C0027626Neoplasm Invasiveness1CTD_human
HgeneH19C0086404Experimental Hepatoma1CTD_human
HgeneH19C0678222Breast Carcinoma1CTD_human
HgeneH19C0860207Drug-Induced Liver Disease1CTD_human
HgeneH19C1257931Mammary Neoplasms, Human1CTD_human
HgeneH19C1262760Hepatitis, Drug-Induced1CTD_human
HgeneH19C1458155Mammary Neoplasms1CTD_human
HgeneH19C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneH19C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneH19C4279912Chemically-Induced Liver Toxicity1CTD_human
HgeneH19C4704874Mammary Carcinoma, Human1CTD_human
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