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Fusion gene ID: 7989 |
FusionGeneSummary for COL6A1_RBM19 |
Fusion gene summary |
Fusion gene information | Fusion gene name: COL6A1_RBM19 | Fusion gene ID: 7989 | Hgene | Tgene | Gene symbol | COL6A1 | RBM19 | Gene ID | 1291 | 9904 |
Gene name | collagen type VI alpha 1 chain | RNA binding motif protein 19 | |
Synonyms | BTHLM1|OPLL|UCHMD1 | Mrd1 | |
Cytomap | 21q22.3 | 12q24.13-q24.21 | |
Type of gene | protein-coding | protein-coding | |
Description | collagen alpha-1(VI) chainalpha 1 (VI) chain (61 AA)collagen VI, alpha-1 polypeptidecollagen, type VI, alpha 1 | probable RNA-binding protein 19 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P12109 | Q9Y4C8 | |
Ensembl transtripts involved in fusion gene | ENST00000361866, ENST00000498614, | ENST00000545145, ENST00000392561, ENST00000261741, ENST00000553232, | |
Fusion gene scores | * DoF score | 10 X 9 X 6=540 | 6 X 4 X 2=48 |
# samples | 11 | 4 | |
** MAII score | log2(11/540*10)=-2.29545588352617 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: COL6A1 [Title/Abstract] AND RBM19 [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | SARC | TCGA-3B-A9HO-01A | COL6A1 | chr21 | 47414143 | + | RBM19 | chr12 | 114261126 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000361866 | ENST00000545145 | COL6A1 | chr21 | 47414143 | + | RBM19 | chr12 | 114261126 | - |
In-frame | ENST00000361866 | ENST00000392561 | COL6A1 | chr21 | 47414143 | + | RBM19 | chr12 | 114261126 | - |
In-frame | ENST00000361866 | ENST00000261741 | COL6A1 | chr21 | 47414143 | + | RBM19 | chr12 | 114261126 | - |
5CDS-intron | ENST00000361866 | ENST00000553232 | COL6A1 | chr21 | 47414143 | + | RBM19 | chr12 | 114261126 | - |
intron-3CDS | ENST00000498614 | ENST00000545145 | COL6A1 | chr21 | 47414143 | + | RBM19 | chr12 | 114261126 | - |
intron-3CDS | ENST00000498614 | ENST00000392561 | COL6A1 | chr21 | 47414143 | + | RBM19 | chr12 | 114261126 | - |
intron-3CDS | ENST00000498614 | ENST00000261741 | COL6A1 | chr21 | 47414143 | + | RBM19 | chr12 | 114261126 | - |
intron-intron | ENST00000498614 | ENST00000553232 | COL6A1 | chr21 | 47414143 | + | RBM19 | chr12 | 114261126 | - |
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FusionProtFeatures for COL6A1_RBM19 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
COL6A1 | RBM19 |
Collagen VI acts as a cell-binding protein. | Plays a role in embryo pre-implantation development.{ECO:0000250}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | COL6A1 | chr21:47414143 | chr12:114261126 | ENST00000361866 | + | 20 | 35 | 37_235 | 466 | 1029 | Domain | VWFA 1 |
Hgene | COL6A1 | chr21:47414143 | chr12:114261126 | ENST00000361866 | + | 20 | 35 | 262_264 | 466 | 1029 | Motif | Note=Cell attachment site |
Hgene | COL6A1 | chr21:47414143 | chr12:114261126 | ENST00000361866 | + | 20 | 35 | 442_444 | 466 | 1029 | Motif | Note=Cell attachment site |
Hgene | COL6A1 | chr21:47414143 | chr12:114261126 | ENST00000361866 | + | 20 | 35 | 20_256 | 466 | 1029 | Region | Note=N-terminal globular domain |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | >COL6A1 | chr21:47414143 | chr12:114261126 | ENST00000361866 | + | 20 | 35 | 615_805 | 466 | 1029 | Domain | VWFA 2 |
Hgene | >COL6A1 | chr21:47414143 | chr12:114261126 | ENST00000361866 | + | 20 | 35 | 829_1021 | 466 | 1029 | Domain | VWFA 3 |
Hgene | >COL6A1 | chr21:47414143 | chr12:114261126 | ENST00000361866 | + | 20 | 35 | 478_480 | 466 | 1029 | Motif | Note=Cell attachment site |
Hgene | >COL6A1 | chr21:47414143 | chr12:114261126 | ENST00000361866 | + | 20 | 35 | 257_592 | 466 | 1029 | Region | Note=Triple-helical region |
Hgene | >COL6A1 | chr21:47414143 | chr12:114261126 | ENST00000361866 | + | 20 | 35 | 593_1028 | 466 | 1029 | Region | Note=C-terminal globular domain |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000261741 | - | 22 | 24 | 225_232 | 928 | 961 | Compositional bias | Note=Poly-Glu |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000261741 | - | 22 | 24 | 391_396 | 928 | 961 | Compositional bias | Note=Poly-Glu |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000261741 | - | 22 | 24 | 714_725 | 928 | 961 | Compositional bias | Note=Poly-Glu |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000392561 | - | 22 | 25 | 225_232 | 928 | 1094 | Compositional bias | Note=Poly-Glu |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000392561 | - | 22 | 25 | 391_396 | 928 | 1094 | Compositional bias | Note=Poly-Glu |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000392561 | - | 22 | 25 | 714_725 | 928 | 1094 | Compositional bias | Note=Poly-Glu |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000545145 | - | 22 | 25 | 225_232 | 928 | 1381 | Compositional bias | Note=Poly-Glu |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000545145 | - | 22 | 25 | 391_396 | 928 | 1381 | Compositional bias | Note=Poly-Glu |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000545145 | - | 22 | 25 | 714_725 | 928 | 1381 | Compositional bias | Note=Poly-Glu |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000261741 | - | 22 | 24 | 294_369 | 928 | 961 | Domain | RRM 2 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000261741 | - | 22 | 24 | 2_79 | 928 | 961 | Domain | RRM 1 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000261741 | - | 22 | 24 | 402_480 | 928 | 961 | Domain | RRM 3 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000261741 | - | 22 | 24 | 587_659 | 928 | 961 | Domain | RRM 4 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000261741 | - | 22 | 24 | 730_811 | 928 | 961 | Domain | RRM 5 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000261741 | - | 22 | 24 | 832_912 | 928 | 961 | Domain | RRM 6 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000392561 | - | 22 | 25 | 294_369 | 928 | 1094 | Domain | RRM 2 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000392561 | - | 22 | 25 | 2_79 | 928 | 1094 | Domain | RRM 1 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000392561 | - | 22 | 25 | 402_480 | 928 | 1094 | Domain | RRM 3 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000392561 | - | 22 | 25 | 587_659 | 928 | 1094 | Domain | RRM 4 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000392561 | - | 22 | 25 | 730_811 | 928 | 1094 | Domain | RRM 5 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000392561 | - | 22 | 25 | 832_912 | 928 | 1094 | Domain | RRM 6 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000545145 | - | 22 | 25 | 294_369 | 928 | 1381 | Domain | RRM 2 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000545145 | - | 22 | 25 | 2_79 | 928 | 1381 | Domain | RRM 1 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000545145 | - | 22 | 25 | 402_480 | 928 | 1381 | Domain | RRM 3 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000545145 | - | 22 | 25 | 587_659 | 928 | 1381 | Domain | RRM 4 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000545145 | - | 22 | 25 | 730_811 | 928 | 1381 | Domain | RRM 5 |
Tgene | RBM19 | chr21:47414143 | chr12:114261126 | ENST00000545145 | - | 22 | 25 | 832_912 | 928 | 1381 | Domain | RRM 6 |
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FusionGeneSequence for COL6A1_RBM19 |
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. |
>In-frame_COL6A1_ENST00000361866_chr21_47414143_+_RBM19_ENST00000545145_chr12_114261126_-_498aa MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVDKVKSFTKRFIDNLRDRYYRCDRNLVWNAGA LHYSDEVEIIQGLTRMPGGRDALKSSVDAVKYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAK HLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTIVDMIKNNVEQVCCSFECQPARGPPGLRGDPGFEGE RGKPGLPGEKGEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGP KGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGAPGERGGPGERGPRGTPGTRGPRGDPGEAGP >In-frame_COL6A1_ENST00000361866_chr21_47414143_+_RBM19_ENST00000392561_chr12_114261126_-_498aa MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVDKVKSFTKRFIDNLRDRYYRCDRNLVWNAGA LHYSDEVEIIQGLTRMPGGRDALKSSVDAVKYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAK HLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTIVDMIKNNVEQVCCSFECQPARGPPGLRGDPGFEGE RGKPGLPGEKGEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGP KGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGAPGERGGPGERGPRGTPGTRGPRGDPGEAGP >In-frame_COL6A1_ENST00000361866_chr21_47414143_+_RBM19_ENST00000261741_chr12_114261126_-_498aa MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVDKVKSFTKRFIDNLRDRYYRCDRNLVWNAGA LHYSDEVEIIQGLTRMPGGRDALKSSVDAVKYFGKGTYTDCAIKKGLEQLLVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAK HLGVKVFSVAITPDHLEPRLSIIATDHTYRRNFTAADWGQSRDAEEAISQTIDTIVDMIKNNVEQVCCSFECQPARGPPGLRGDPGFEGE RGKPGLPGEKGEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPGFDGIQGPPGP KGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGAPGERGGPGERGPRGTPGTRGPRGDPGEAGP |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_COL6A1_ENST00000361866_chr21_47414143_+_RBM19_ENST00000545145_chr12_114261126_-_1496nt ATGAGGGCGGCCCGTGCTCTGCTGCCCCTGCTGCTGCAGGCCTGCTGGACAGCCGCGCAGGATGAGCCGGAGACCCCGAGGGCCGTGGCC TTCCAGGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTGAAGCCCTACGGGGCCCTCGTGGAC AAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAGGTACTACCGCTGTGACCGAAACCTGGTGTGGAACGCAGGCGCG CTGCACTACAGTGACGAGGTGGAGATCATCCAAGGCCTCACGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCGTGGACGCGGTC AAGTACTTTGGGAAGGGCACCTACACCGACTGCGCTATCAAGAAGGGGCTGGAGCAGCTCCTCGTGGGGGGCTCCCACCTGAAGGAGAAT AAGTACCTGATTGTGGTGACCGACGGGCACCCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTGGAGGATGCTGTGAACGAGGCCAAG CACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTGGAGCCGCGTCTGAGCATCATCGCCACGGACCACACGTACCGG CGCAACTTCACGGCGGCTGACTGGGGCCAGAGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATCGACACCATCGTGGACATGATCAAA AATAACGTGGAGCAAGTGTGCTGCTCCTTCGAATGCCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGGAGAA CGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATG AAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGGCTCCAGGGGACCCAAGGGCTACAAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTG GACGGCGTGAAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGGCATTCAAGGACCCCCTGGCCCC AAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCA TCTGGAGACGAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGGGAACCCAGGACCTGACGGTGCC CCCGGGGAGCGGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGGTGAAGCTGGCCCG CAGGGTGATCAGGGAAGAGAAGGCCCCGTTGGTGTCCCTGGAGACCCGAGCCCCCGAAGAAAAAGCGGTCTGTGGTGTTGGACGAGATCC >In-frame_COL6A1_ENST00000361866_chr21_47414143_+_RBM19_ENST00000392561_chr12_114261126_-_1496nt ATGAGGGCGGCCCGTGCTCTGCTGCCCCTGCTGCTGCAGGCCTGCTGGACAGCCGCGCAGGATGAGCCGGAGACCCCGAGGGCCGTGGCC TTCCAGGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTGAAGCCCTACGGGGCCCTCGTGGAC AAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAGGTACTACCGCTGTGACCGAAACCTGGTGTGGAACGCAGGCGCG CTGCACTACAGTGACGAGGTGGAGATCATCCAAGGCCTCACGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCGTGGACGCGGTC AAGTACTTTGGGAAGGGCACCTACACCGACTGCGCTATCAAGAAGGGGCTGGAGCAGCTCCTCGTGGGGGGCTCCCACCTGAAGGAGAAT AAGTACCTGATTGTGGTGACCGACGGGCACCCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTGGAGGATGCTGTGAACGAGGCCAAG CACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTGGAGCCGCGTCTGAGCATCATCGCCACGGACCACACGTACCGG CGCAACTTCACGGCGGCTGACTGGGGCCAGAGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATCGACACCATCGTGGACATGATCAAA AATAACGTGGAGCAAGTGTGCTGCTCCTTCGAATGCCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGGAGAA CGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATG AAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGGCTCCAGGGGACCCAAGGGCTACAAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTG GACGGCGTGAAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGGCATTCAAGGACCCCCTGGCCCC AAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCA TCTGGAGACGAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGGGAACCCAGGACCTGACGGTGCC CCCGGGGAGCGGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGGTGAAGCTGGCCCG CAGGGTGATCAGGGAAGAGAAGGCCCCGTTGGTGTCCCTGGAGACCCGAGCCCCCGAAGAAAAAGCGGTCTGTGGTGTTGGACGAGATCC >In-frame_COL6A1_ENST00000361866_chr21_47414143_+_RBM19_ENST00000261741_chr12_114261126_-_1496nt ATGAGGGCGGCCCGTGCTCTGCTGCCCCTGCTGCTGCAGGCCTGCTGGACAGCCGCGCAGGATGAGCCGGAGACCCCGAGGGCCGTGGCC TTCCAGGACTGCCCCGTGGACCTGTTCTTTGTGCTGGACACCTCTGAGAGCGTGGCCCTGAGGCTGAAGCCCTACGGGGCCCTCGTGGAC AAAGTCAAGTCCTTCACCAAGCGCTTCATCGACAACCTGAGGGACAGGTACTACCGCTGTGACCGAAACCTGGTGTGGAACGCAGGCGCG CTGCACTACAGTGACGAGGTGGAGATCATCCAAGGCCTCACGCGCATGCCTGGCGGCCGCGACGCACTCAAAAGCAGCGTGGACGCGGTC AAGTACTTTGGGAAGGGCACCTACACCGACTGCGCTATCAAGAAGGGGCTGGAGCAGCTCCTCGTGGGGGGCTCCCACCTGAAGGAGAAT AAGTACCTGATTGTGGTGACCGACGGGCACCCCCTGGAGGGCTACAAGGAACCCTGTGGGGGGCTGGAGGATGCTGTGAACGAGGCCAAG CACCTGGGCGTCAAAGTCTTCTCGGTGGCCATCACACCCGACCACCTGGAGCCGCGTCTGAGCATCATCGCCACGGACCACACGTACCGG CGCAACTTCACGGCGGCTGACTGGGGCCAGAGCCGCGACGCAGAGGAGGCCATCAGCCAGACCATCGACACCATCGTGGACATGATCAAA AATAACGTGGAGCAAGTGTGCTGCTCCTTCGAATGCCAGCCTGCAAGAGGACCTCCGGGGCTCCGGGGCGACCCCGGCTTTGAGGGAGAA CGAGGCAAGCCGGGGCTCCCAGGAGAGAAGGGAGAAGCCGGAGATCCTGGAAGACCCGGGGACCTCGGACCTGTTGGGTACCAGGGAATG AAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGGCTCCAGGGGACCCAAGGGCTACAAGGGAGAGAAGGGCAAGCGTGGCATCGACGGGGTG GACGGCGTGAAGGGGGAGATGGGGTACCCAGGCCTGCCAGGCTGCAAGGGCTCGCCCGGGTTTGACGGCATTCAAGGACCCCCTGGCCCC AAGGGAGACCCCGGTGCCTTTGGACTGAAAGGAGAAAAGGGCGAGCCTGGAGCTGACGGGGAGGCGGGGAGACCAGGGAGCTCGGGACCA TCTGGAGACGAGGGCCAGCCGGGAGAGCCTGGGCCCCCCGGAGAGAAAGGAGAGGCGGGCGACGAGGGGAACCCAGGACCTGACGGTGCC CCCGGGGAGCGGGGTGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACCCTGGTGAAGCTGGCCCG CAGGGTGATCAGGGAAGAGAAGGCCCCGTTGGTGTCCCTGGAGACCCGAGCCCCCGAAGAAAAAGCGGTCTGTGGTGTTGGACGAGATCC |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_COL6A1_ENST00000361866_chr21_47414143_+_RBM19_ENST00000545145_chr12_114261126_-_3070nt 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_COL6A1_ENST00000361866_chr21_47414143_+_RBM19_ENST00000392561_chr12_114261126_-_2215nt 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_COL6A1_ENST00000361866_chr21_47414143_+_RBM19_ENST00000261741_chr12_114261126_-_2777nt 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 |
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FusionGenePPI for COL6A1_RBM19 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
COL6A1 | DCN, MAG, DNAJB11, VHL, FBXO6, PDIA3, PDGFA, PDGFB, RTBDN, COLEC11, COL9A1, C1QTNF9, PTPRK, MMP9, PLA2G10, MMP2, PLOD1, LYZL1, DEFA1, LYPD1, OS9, WNT7A, INSL5, WNT4, TRIM25 | RBM19 | FTSJ3, PTPN12, NXF1, FBXW11, HIST1H1A, NOL12, NIFK, ZC3H3, RPS8, BYSL, DDX27, DHX37, FBL, GRWD1, NOL10, RRP12, UTP18, TSR1, UTP15, IFI16, SRPK2, MEX3C, HIST1H1E, RPS14, HIST1H1T, GPATCH4, ZC3HAV1, ZCRB1, FGF3, FGF8, ZNF2, RPL7, RPL18, CDX1, H2AFY2, H2AFX, ZBTB48, RRS1, FOXA1, TRIM25 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for COL6A1_RBM19 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for COL6A1_RBM19 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | COL6A1 | C1834674 | Bethlem myopathy | 5 | CTD_human;ORPHANET;UNIPROT |
Hgene | COL6A1 | C0410179 | Scleroatonic muscular dystrophy | 3 | CTD_human;ORPHANET;UNIPROT |
Hgene | COL6A1 | C0000786 | Spontaneous abortion | 1 | CTD_human |
Hgene | COL6A1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | COL6A1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | COL6A1 | C0026850 | Muscular Dystrophy | 1 | CTD_human |