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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:COL6A1-RBM19 (FusionGDB2 ID:18434)

Fusion Gene Summary for COL6A1-RBM19

check button Fusion gene summary
Fusion gene informationFusion gene name: COL6A1-RBM19
Fusion gene ID: 18434
HgeneTgene
Gene symbol

COL6A1

RBM19

Gene ID

1291

9904

Gene namecollagen type VI alpha 1 chainRNA binding motif protein 19
SynonymsBTHLM1|OPLL|UCHMD1Mrd1
Cytomap

21q22.3

12q24.13-q24.21

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(VI) chainalpha 1 (VI) chain (61 AA)collagen VI, alpha-1 polypeptidecollagen, type VI, alpha 1epididymis secretory sperm binding proteinprobable RNA-binding protein 19
Modification date2020032820200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000361866, ENST00000498614, 
ENST00000545145, ENST00000392561, 
ENST00000261741, ENST00000553232, 
Fusion gene scores* DoF score13 X 12 X 8=12485 X 3 X 2=30
# samples 153
** MAII scorelog2(15/1248*10)=-3.05658352836637
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/30*10)=0
Context

PubMed: COL6A1 [Title/Abstract] AND RBM19 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL6A1(47414143)-RBM19(114261126), # 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

check buttonFusion gene breakpoints across COL6A1 (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 RBM19 (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
ChimerDB4SARCTCGA-3B-A9HO-01ACOL6A1chr21

47414143

+RBM19chr12

114261126

-


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Fusion Gene ORF analysis for COL6A1-RBM19

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
In-frameENST00000361866ENST00000545145COL6A1chr21

47414143

+RBM19chr12

114261126

-
In-frameENST00000361866ENST00000392561COL6A1chr21

47414143

+RBM19chr12

114261126

-
In-frameENST00000361866ENST00000261741COL6A1chr21

47414143

+RBM19chr12

114261126

-
5CDS-intronENST00000361866ENST00000553232COL6A1chr21

47414143

+RBM19chr12

114261126

-
intron-3CDSENST00000498614ENST00000545145COL6A1chr21

47414143

+RBM19chr12

114261126

-
intron-3CDSENST00000498614ENST00000392561COL6A1chr21

47414143

+RBM19chr12

114261126

-
intron-3CDSENST00000498614ENST00000261741COL6A1chr21

47414143

+RBM19chr12

114261126

-
intron-intronENST00000498614ENST00000553232COL6A1chr21

47414143

+RBM19chr12

114261126

-

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)
ENST00000361866COL6A1chr2147414143+ENST00000545145RBM19chr12114261126-307015121141982622
ENST00000361866COL6A1chr2147414143+ENST00000392561RBM19chr12114261126-221515121141814566
ENST00000361866COL6A1chr2147414143+ENST00000261741RBM19chr12114261126-277715121141838574

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
ENST00000361866ENST00000545145COL6A1chr2147414143+RBM19chr12114261126-0.006553310.99344665
ENST00000361866ENST00000392561COL6A1chr2147414143+RBM19chr12114261126-0.0198814980.9801185
ENST00000361866ENST00000261741COL6A1chr2147414143+RBM19chr12114261126-0.0322952120.9677048

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Fusion Genomic Features for COL6A1-RBM19


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 COL6A1-RBM19


check button Go to

FGviewer for the breakpoints of chr21:47414143-chr12:114261126

.
- 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
..
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: 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.

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
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+203537_235466.01029.0DomainVWFA 1
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035262_264466.01029.0MotifNote=Cell attachment site
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035442_444466.01029.0MotifNote=Cell attachment site
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+203520_256466.01029.0RegionNote=N-terminal globular domain

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035615_805466.01029.0DomainVWFA 2
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035829_1021466.01029.0DomainVWFA 3
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035478_480466.01029.0MotifNote=Cell attachment site
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035257_592466.01029.0RegionNote=Triple-helical region
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035593_1028466.01029.0RegionNote=C-terminal globular domain
TgeneRBM19chr21:47414143chr12:114261126ENST000002617412224225_232928.3333333333334961.0Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST000002617412224391_396928.3333333333334961.0Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST000002617412224714_725928.3333333333334961.0Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST000003925612225225_232928.33333333333341094.6666666666667Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST000003925612225391_396928.33333333333341094.6666666666667Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST000003925612225714_725928.33333333333341094.6666666666667Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST000005451452225225_232928.33333333333341381.0Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST000005451452225391_396928.33333333333341381.0Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST000005451452225714_725928.33333333333341381.0Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST000002617412224294_369928.3333333333334961.0DomainRRM 2
TgeneRBM19chr21:47414143chr12:114261126ENST0000026174122242_79928.3333333333334961.0DomainRRM 1
TgeneRBM19chr21:47414143chr12:114261126ENST000002617412224402_480928.3333333333334961.0DomainRRM 3
TgeneRBM19chr21:47414143chr12:114261126ENST000002617412224587_659928.3333333333334961.0DomainRRM 4
TgeneRBM19chr21:47414143chr12:114261126ENST000002617412224730_811928.3333333333334961.0DomainRRM 5
TgeneRBM19chr21:47414143chr12:114261126ENST000002617412224832_912928.3333333333334961.0DomainRRM 6
TgeneRBM19chr21:47414143chr12:114261126ENST000003925612225294_369928.33333333333341094.6666666666667DomainRRM 2
TgeneRBM19chr21:47414143chr12:114261126ENST0000039256122252_79928.33333333333341094.6666666666667DomainRRM 1
TgeneRBM19chr21:47414143chr12:114261126ENST000003925612225402_480928.33333333333341094.6666666666667DomainRRM 3
TgeneRBM19chr21:47414143chr12:114261126ENST000003925612225587_659928.33333333333341094.6666666666667DomainRRM 4
TgeneRBM19chr21:47414143chr12:114261126ENST000003925612225730_811928.33333333333341094.6666666666667DomainRRM 5
TgeneRBM19chr21:47414143chr12:114261126ENST000003925612225832_912928.33333333333341094.6666666666667DomainRRM 6
TgeneRBM19chr21:47414143chr12:114261126ENST000005451452225294_369928.33333333333341381.0DomainRRM 2
TgeneRBM19chr21:47414143chr12:114261126ENST0000054514522252_79928.33333333333341381.0DomainRRM 1
TgeneRBM19chr21:47414143chr12:114261126ENST000005451452225402_480928.33333333333341381.0DomainRRM 3
TgeneRBM19chr21:47414143chr12:114261126ENST000005451452225587_659928.33333333333341381.0DomainRRM 4
TgeneRBM19chr21:47414143chr12:114261126ENST000005451452225730_811928.33333333333341381.0DomainRRM 5
TgeneRBM19chr21:47414143chr12:114261126ENST000005451452225832_912928.33333333333341381.0DomainRRM 6


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Fusion Gene Sequence for COL6A1-RBM19


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_ENST00000361866_ENST00000545145_TCGA-3B-A9HO-01A_COL6A1_chr21_47414143_+_RBM19_chr12_114261126_length(transcript)=3070nt_BP=1512nt
TCCTTGCCCTCCGCTCTCACTCTGGCTGGGAGCAGAAGGCAGCCTCGGTCTCTGGGCGGCGGCGGCGGCCCACTCTGCCCTGGCCGCGCT
GTGTGGTGACCGCAGGCCCCAGACATGAGGGCGGCCCGTGCTCTGCTGCCCCTGCTGCTGCAGGCCTGCTGGACAGCCGCGCAGGATGAG
CCGGAGACCCCGAGGGCCGTGGCCTTCCAGGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTG
AAGCCCTACGGGGCCCTCGTGGACAAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAGGTACTACCGCTGTGACCGA
AACCTGGTGTGGAACGCAGGCGCGCTGCACTACAGTGACGAGGTGGAGATCATCCAAGGCCTCACGCGCATGCCTGGCGGCCGCGACGCA
CTCAAAAGCAGCGTGGACGCGGTCAAGTACTTTGGGAAGGGCACCTACACCGACTGCGCTATCAAGAAGGGGCTGGAGCAGCTCCTCGTG
GGGGGCTCCCACCTGAAGGAGAATAAGTACCTGATTGTGGTGACCGACGGGCACCCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTG
GAGGATGCTGTGAACGAGGCCAAGCACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTGGAGCCGCGTCTGAGCATC
ATCGCCACGGACCACACGTACCGGCGCAACTTCACGGCGGCTGACTGGGGCCAGAGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATC
GACACCATCGTGGACATGATCAAAAATAACGTGGAGCAAGTGTGCTGCTCCTTCGAATGCCAGCCTGCAAGAGGACCTCCGGGGCTCCGG
GGCGACCCCGGCTTTGAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGGAAGACCCGGGGACCTC
GGACCTGTTGGGTACCAGGGAATGAAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGGCTCCAGGGGACCCAAGGGCTACAAGGGAGAGAAG
GGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGAC
GGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGGCGAGCCTGGAGCTGACGGGGAGGCG
GGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAG
GGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGA
GGAGACCCTGGTGAAGCTGGCCCGCAGGGTGATCAGGGAAGAGAAGGCCCCGTTGGTGTCCCTGGAGACCCGAGCCCCCGAAGAAAAAGC
GGTCTGTGGTGTTGGACGAGATCCTGGAGCAGCTGGAAGGCAGTGACAGCGACAGCGAGGAGCAGACCCTTCAGCTGTGAGCTGGCACCG
AGAGGGCTGGAGTGCAGTGGCGTGATCTGGGCTCACCTCCCTGGTTCAAGCGATTGTCCCGCCTCAGCCTCCCAAGGCTGGGATTACAGG
TATGCACCACCACGCCCGGCTAATTTTGTATTTTTCATAGAGACTGGGTTTCACCATGTAGACCAGGCTGGTCTCGAATTCCTGACCTCA
AGTGATCCACCTACCTCGGCCTCCCAAAGTGTGGGGATTACGGGTGTGAGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGACAG
GGTTTCACCATGTGGGCCAGGCTGGTCTTGAACTCCCAACCTCAAGTGATCCACCCACCTTGTTCTCCCAAAGTGCTGAGATTACAGGTG
TGAGCCACCATGCCCAGCCTGTTCCTAACCCTTTCAACTGGGGGGTCTCAAGTGGGTGAGGACTCCATGGCCACGGCAGCAGAACTGTCT
CTTCTGAAAACCAGACTCCGGGGCCCCTGGGTCAGCACCTCTAGGTCATTCCACAGACTTACACAGTTTAAAGAAAGAGCCAGCGAACAT
GGGGTGATCCTGGGGTGCCACTGGGATCCCAAGCCAGGCCCGGAGGTCTGCCTGTTTCGTCCCCAGAAACTTGAGCTGGCATCCTCCGCT
GGTTTGCACTGGGCACGGGGACTGGAGAGCCACCAGGCCACTGAGCGCAGCATGCTATCACTTCTCAGGAAGTTGTGAGGGTGAGGAGAA
TAGCCGGGCCCACTCTGCAGAGGGGAGGAACAGGCACAGGCTAGAGGCACGGGCTGATAGAGTGAGTCCTCTCCCTCATTCATTCATTCA
TTCATTCATTCATCCATCAGACACCTGCTGGGCATCTGCTGTGTGCGAGACACTGTGCTGGGTGCCCCAGACACAAGACAGAAACTCGGG
TCGCTCTGTGTGCCTCCACACTGGCCTTCCCTGCTGCGTGGACGCAGGCTCTGTCTCCTAGGCTTTAAGCCCCATGCATCAGGTGGAAGA
CAATTTCCAGCAGCCTCTGCCCGCTTGTTTTTCCTCCTCTCCTTTTCCTGCCGCCTTGGTCTTTTTTGTCTTTTGTGCAGGGCCGTCTCT
CGCAGCGCCCGTCTGTGCTCCGCAGCGTCTAGGAAAGGATTAGTGTGAGCAGAGCACGCAGGCTTTGGTGAACAGAGCCGAGCTTGGTTT
CAACATCTAATTCAATTTGTTCTGCCGAGATTGAAATATGAAATGGTTGCCAGTCAAACGTTCAAAGGACGGGGAAGGGAGAGTGAGCGC
ATGCTGAAATTTAAATTTTAATGAAAATGACTTTAACCCTTTGGTACACCTTGCAAAATGTAACCCATCCTCCCATCCTGTGAAAGCGGC
CTCTCGGGTTAGAGCTTTTCCACCCACTTCTCTTCCACTGAGCTTCACTAATAATATGTAATCATTTTTTTCAGCCGTCTTAATAATAAA

>In-frame_ENST00000361866_ENST00000545145_TCGA-3B-A9HO-01A_COL6A1_chr21_47414143_+_RBM19_chr12_114261126_length(amino acids)=622AA_start in transcript=114_stop in transcript=1982
MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVDKVKSFTKRFIDNLRDRYYRCDRNLVWNAGA
LHYSDEVEIIQGLTRMPGGRDALKSSVDAVKYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAK
HLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTIVDMIKNNVEQVCCSFECQPARGPPGLRGDPGFEGE
RGKPGLPGEKGEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGP
KGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGAPGERGGPGERGPRGTPGTRGPRGDPGEAGP
QGDQGREGPVGVPGDPSPRRKSGLWCWTRSWSSWKAVTATARSRPFSCELAPRGLECSGVIWAHLPGSSDCPASASQGWDYRYAPPRPAN

--------------------------------------------------------------
>In-frame_ENST00000361866_ENST00000392561_TCGA-3B-A9HO-01A_COL6A1_chr21_47414143_+_RBM19_chr12_114261126_length(transcript)=2215nt_BP=1512nt
TCCTTGCCCTCCGCTCTCACTCTGGCTGGGAGCAGAAGGCAGCCTCGGTCTCTGGGCGGCGGCGGCGGCCCACTCTGCCCTGGCCGCGCT
GTGTGGTGACCGCAGGCCCCAGACATGAGGGCGGCCCGTGCTCTGCTGCCCCTGCTGCTGCAGGCCTGCTGGACAGCCGCGCAGGATGAG
CCGGAGACCCCGAGGGCCGTGGCCTTCCAGGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTG
AAGCCCTACGGGGCCCTCGTGGACAAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAGGTACTACCGCTGTGACCGA
AACCTGGTGTGGAACGCAGGCGCGCTGCACTACAGTGACGAGGTGGAGATCATCCAAGGCCTCACGCGCATGCCTGGCGGCCGCGACGCA
CTCAAAAGCAGCGTGGACGCGGTCAAGTACTTTGGGAAGGGCACCTACACCGACTGCGCTATCAAGAAGGGGCTGGAGCAGCTCCTCGTG
GGGGGCTCCCACCTGAAGGAGAATAAGTACCTGATTGTGGTGACCGACGGGCACCCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTG
GAGGATGCTGTGAACGAGGCCAAGCACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTGGAGCCGCGTCTGAGCATC
ATCGCCACGGACCACACGTACCGGCGCAACTTCACGGCGGCTGACTGGGGCCAGAGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATC
GACACCATCGTGGACATGATCAAAAATAACGTGGAGCAAGTGTGCTGCTCCTTCGAATGCCAGCCTGCAAGAGGACCTCCGGGGCTCCGG
GGCGACCCCGGCTTTGAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGGAAGACCCGGGGACCTC
GGACCTGTTGGGTACCAGGGAATGAAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGGCTCCAGGGGACCCAAGGGCTACAAGGGAGAGAAG
GGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGAC
GGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGGCGAGCCTGGAGCTGACGGGGAGGCG
GGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAG
GGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGA
GGAGACCCTGGTGAAGCTGGCCCGCAGGGTGATCAGGGAAGAGAAGGCCCCGTTGGTGTCCCTGGAGACCCGAGCCCCCGAAGAAAAAGC
GGTCTGTGGTGTTGGACGAGATCCTGGAGCAGCTGGAAGGCAGTGACAGCGACAGCGAGGAGCAGACCCTTCAGCTGTGAGCTGGCACCG
AGAGGGGCTGCTGAGCTAGAATTCCCACCTATGTCTTTCCAAGGGACTGTTCACGGCTTGGGACTTGGTCTCTGTCCTGCCCCATCCTCG
TCACTTGGGACCACGAGCCCTGGTTCAGTCACCCAGGGAAGCCTCCCAGCGGCTCATGAAGCATCGAGCTCCAAGCCCAGATGCCAAGCT
CCCTGGCTGAGCTGAATGATGTCACTCATGGTGGACGCGTTCTGCTCACGGGCCCAGAGCCCTGTGAAATGCATCAAGGTCCTCTCCGCT
GGCCAGCAGCATCCCCAGGCTTCTCTCAGGCGCCCGTGTTCACATTTTCTCCAGCCTGAGACGCAGCCTCCCGCCTGGAAGGGCCTGTGC
CAGCACCAGGCAGAGGGCAAGACGGAGAGGGCAGAGCAAGAACTGCACTGCATCTCACTGCAGTCTGAATCTAGACATCGCCATTCCCCG
AGGTGCGACCTCAGACTAATGACATCCTGGCTGAGCCTCTGTTTTTCTCTCTAGGAAATGGGGGTGATAATTGTGCCTACCTCAGATAGA

>In-frame_ENST00000361866_ENST00000392561_TCGA-3B-A9HO-01A_COL6A1_chr21_47414143_+_RBM19_chr12_114261126_length(amino acids)=566AA_start in transcript=114_stop in transcript=1814
MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVDKVKSFTKRFIDNLRDRYYRCDRNLVWNAGA
LHYSDEVEIIQGLTRMPGGRDALKSSVDAVKYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAK
HLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTIVDMIKNNVEQVCCSFECQPARGPPGLRGDPGFEGE
RGKPGLPGEKGEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGP
KGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGAPGERGGPGERGPRGTPGTRGPRGDPGEAGP
QGDQGREGPVGVPGDPSPRRKSGLWCWTRSWSSWKAVTATARSRPFSCELAPRGAAELEFPPMSFQGTVHGLGLGLCPAPSSSLGTTSPG

--------------------------------------------------------------
>In-frame_ENST00000361866_ENST00000261741_TCGA-3B-A9HO-01A_COL6A1_chr21_47414143_+_RBM19_chr12_114261126_length(transcript)=2777nt_BP=1512nt
TCCTTGCCCTCCGCTCTCACTCTGGCTGGGAGCAGAAGGCAGCCTCGGTCTCTGGGCGGCGGCGGCGGCCCACTCTGCCCTGGCCGCGCT
GTGTGGTGACCGCAGGCCCCAGACATGAGGGCGGCCCGTGCTCTGCTGCCCCTGCTGCTGCAGGCCTGCTGGACAGCCGCGCAGGATGAG
CCGGAGACCCCGAGGGCCGTGGCCTTCCAGGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTG
AAGCCCTACGGGGCCCTCGTGGACAAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAGGTACTACCGCTGTGACCGA
AACCTGGTGTGGAACGCAGGCGCGCTGCACTACAGTGACGAGGTGGAGATCATCCAAGGCCTCACGCGCATGCCTGGCGGCCGCGACGCA
CTCAAAAGCAGCGTGGACGCGGTCAAGTACTTTGGGAAGGGCACCTACACCGACTGCGCTATCAAGAAGGGGCTGGAGCAGCTCCTCGTG
GGGGGCTCCCACCTGAAGGAGAATAAGTACCTGATTGTGGTGACCGACGGGCACCCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTG
GAGGATGCTGTGAACGAGGCCAAGCACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTGGAGCCGCGTCTGAGCATC
ATCGCCACGGACCACACGTACCGGCGCAACTTCACGGCGGCTGACTGGGGCCAGAGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATC
GACACCATCGTGGACATGATCAAAAATAACGTGGAGCAAGTGTGCTGCTCCTTCGAATGCCAGCCTGCAAGAGGACCTCCGGGGCTCCGG
GGCGACCCCGGCTTTGAGGGAGAACGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGGAAGACCCGGGGACCTC
GGACCTGTTGGGTACCAGGGAATGAAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGGCTCCAGGGGACCCAAGGGCTACAAGGGAGAGAAG
GGCAAGCGTGGCATCGACGGGGTGGACGGCGTGAAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGAC
GGCATTCAAGGACCCCCTGGCCCCAAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGGCGAGCCTGGAGCTGACGGGGAGGCG
GGGAGACCAGGGAGCTCGGGACCATCTGGAGACGAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAG
GGGAACCCAGGACCTGACGGTGCCCCCGGGGAGCGGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGA
GGAGACCCTGGTGAAGCTGGCCCGCAGGGTGATCAGGGAAGAGAAGGCCCCGTTGGTGTCCCTGGAGACCCGAGCCCCCGAAGAAAAAGC
GGTCTGTGGTGTTGGACGAGATCCTGGAGCAGCTGGAAGGCAGTGACAGCGACAGCGAGGAGCAGACCCTTCAGCTGTGAGCTGGCACCG
AGAGGGTGTGTGGCTCCGGGGCCCTGGGGACCGGGACAGCCGCTCCAGCTTCTGCACTCACCACCATGTGGGCTGGGGGGCGGGGCGGGG
AGCGGCAGGCGGCCCCACCCTGCACTGGTCCAAGGTCGGAGGAGACAGGGGATGAGGAAGGCCTCAGGCCACTGCCCAGCGGCCCAGGCA
TCCTGGGTTTCACCAGTGACGCGTTCTAGCAGACACTGACTGCGCACCTGCTCTGTAGCAGACACGGAAGAGTCCAAGGGAGCAGCCACG
TTAGGAAGAGAGACTTGGGAACAGCTACACAGGGAGCTAGAACCCCTGCTCCCCCTGTCCCCACCCCAGGAGAGTAAGGGGACGAGGGCC
AGCTCTCTGGCATCAGGCTGCTTGGACATGAAACCCCGTCTCCAAGCTCAAGCTGGGAGACCCTGGCCCAGTTTCCTTATCTCCTTGGGC
CCAGCCTTCCCCTTGCTAGCTAGTTCTTACTTCATAAGGTTTTAGAGAGAAATAAACGCAGTAATGCATGAAGAGTGCCGGGCATGGTGC
TGAGCCCTGTTCCTGCTCTCCCTCCAGGGCTGCTGAGCTAGAATTCCCACCTATGTCTTTCCAAGGGACTGTTCACGGCTTGGGACTTGG
TCTCTGTCCTGCCCCATCCTCGTCACTTGGGACCACGAGCCCTGGTTCAGTCACCCAGGGAAGCCTCCCAGCGGCTCATGAAGCATCGAG
CTCCAAGCCCAGATGCCAAGCTCCCTGGCTGAGCTGAATGATGTCACTCATGGTGGACGCGTTCTGCTCACGGGCCCAGAGCCCTGTGAA
ATGCATCAAGGTCCTCTCCGCTGGCCAGCAGCATCCCCAGGCTTCTCTCAGGCGCCCGTGTTCACATTTTCTCCAGCCTGAGACGCAGCC
TCCCGCCTGGAAGGGCCTGTGCCAGCACCAGGCAGAGGGCAAGACGGAGAGGGCAGAGCAAGAACTGCACTGCATCTCACTGCAGTCTGA
ATCTAGACATCGCCATTCCCCGAGGTGCGACCTCAGACTAATGACATCCTGGCTGAGCCTCTGTTTTTCTCTCTAGGAAATGGGGGTGAT

>In-frame_ENST00000361866_ENST00000261741_TCGA-3B-A9HO-01A_COL6A1_chr21_47414143_+_RBM19_chr12_114261126_length(amino acids)=574AA_start in transcript=114_stop in transcript=1838
MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVDKVKSFTKRFIDNLRDRYYRCDRNLVWNAGA
LHYSDEVEIIQGLTRMPGGRDALKSSVDAVKYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAK
HLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTIVDMIKNNVEQVCCSFECQPARGPPGLRGDPGFEGE
RGKPGLPGEKGEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGP
KGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGAPGERGGPGERGPRGTPGTRGPRGDPGEAGP
QGDQGREGPVGVPGDPSPRRKSGLWCWTRSWSSWKAVTATARSRPFSCELAPRGCVAPGPWGPGQPLQLLHSPPCGLGGGAGSGRRPHPA

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Fusion Gene PPI Analysis for COL6A1-RBM19


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 COL6A1-RBM19


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for COL6A1-RBM19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL6A1C1834674BETHLEM MYOPATHY 17CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneCOL6A1C0410179Ullrich congenital muscular dystrophy 16CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneCOL6A1C0000786Spontaneous abortion1CTD_human
HgeneCOL6A1C0000822Abortion, Tubal1CTD_human
HgeneCOL6A1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOL6A1C0024121Lung Neoplasms1CTD_human
HgeneCOL6A1C0026850Muscular Dystrophy1CTD_human
HgeneCOL6A1C0242379Malignant neoplasm of lung1CTD_human
HgeneCOL6A1C1135196Heart Failure, Diastolic1CTD_human
HgeneCOL6A1C3830362Early Pregnancy Loss1CTD_human
HgeneCOL6A1C4552766Miscarriage1CTD_human