FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 7989

FusionGeneSummary for COL6A1_RBM19

check button Fusion gene summary
Fusion gene informationFusion gene name: COL6A1_RBM19
Fusion gene ID: 7989
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 1probable RNA-binding protein 19
Modification date2018052320180523
UniProtAcc

P12109

Q9Y4C8

Ensembl transtripts involved in fusion geneENST00000361866, ENST00000498614, 
ENST00000545145, ENST00000392561, 
ENST00000261741, ENST00000553232, 
Fusion gene scores* DoF score10 X 9 X 6=5406 X 4 X 2=48
# samples 114
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSARCTCGA-3B-A9HO-01ACOL6A1chr21

47414143

+RBM19chr12

114261126

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
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

-

Top

FusionProtFeatures for COL6A1_RBM19


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL6A1

P12109

RBM19

Q9Y4C8

Collagen VI acts as a cell-binding protein. Plays a role in embryo pre-implantation development.{ECO:0000250}.

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_2354661029DomainVWFA 1
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035262_2644661029MotifNote=Cell attachment site
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035442_4444661029MotifNote=Cell attachment site
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+203520_2564661029RegionNote=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_8054661029DomainVWFA 2
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035829_10214661029DomainVWFA 3
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035478_4804661029MotifNote=Cell attachment site
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035257_5924661029RegionNote=Triple-helical region
HgeneCOL6A1chr21:47414143chr12:114261126ENST00000361866+2035593_10284661029RegionNote=C-terminal globular domain
TgeneRBM19chr21:47414143chr12:114261126ENST00000261741-2224225_232928961Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST00000261741-2224391_396928961Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST00000261741-2224714_725928961Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST00000392561-2225225_2329281094Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST00000392561-2225391_3969281094Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST00000392561-2225714_7259281094Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST00000545145-2225225_2329281381Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST00000545145-2225391_3969281381Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST00000545145-2225714_7259281381Compositional biasNote=Poly-Glu
TgeneRBM19chr21:47414143chr12:114261126ENST00000261741-2224294_369928961DomainRRM 2
TgeneRBM19chr21:47414143chr12:114261126ENST00000261741-22242_79928961DomainRRM 1
TgeneRBM19chr21:47414143chr12:114261126ENST00000261741-2224402_480928961DomainRRM 3
TgeneRBM19chr21:47414143chr12:114261126ENST00000261741-2224587_659928961DomainRRM 4
TgeneRBM19chr21:47414143chr12:114261126ENST00000261741-2224730_811928961DomainRRM 5
TgeneRBM19chr21:47414143chr12:114261126ENST00000261741-2224832_912928961DomainRRM 6
TgeneRBM19chr21:47414143chr12:114261126ENST00000392561-2225294_3699281094DomainRRM 2
TgeneRBM19chr21:47414143chr12:114261126ENST00000392561-22252_799281094DomainRRM 1
TgeneRBM19chr21:47414143chr12:114261126ENST00000392561-2225402_4809281094DomainRRM 3
TgeneRBM19chr21:47414143chr12:114261126ENST00000392561-2225587_6599281094DomainRRM 4
TgeneRBM19chr21:47414143chr12:114261126ENST00000392561-2225730_8119281094DomainRRM 5
TgeneRBM19chr21:47414143chr12:114261126ENST00000392561-2225832_9129281094DomainRRM 6
TgeneRBM19chr21:47414143chr12:114261126ENST00000545145-2225294_3699281381DomainRRM 2
TgeneRBM19chr21:47414143chr12:114261126ENST00000545145-22252_799281381DomainRRM 1
TgeneRBM19chr21:47414143chr12:114261126ENST00000545145-2225402_4809281381DomainRRM 3
TgeneRBM19chr21:47414143chr12:114261126ENST00000545145-2225587_6599281381DomainRRM 4
TgeneRBM19chr21:47414143chr12:114261126ENST00000545145-2225730_8119281381DomainRRM 5
TgeneRBM19chr21:47414143chr12:114261126ENST00000545145-2225832_9129281381DomainRRM 6


Top

FusionGeneSequence for COL6A1_RBM19


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>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


Top

FusionGenePPI 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
COL6A1DCN, MAG, DNAJB11, VHL, FBXO6, PDIA3, PDGFA, PDGFB, RTBDN, COLEC11, COL9A1, C1QTNF9, PTPRK, MMP9, PLA2G10, MMP2, PLOD1, LYZL1, DEFA1, LYPD1, OS9, WNT7A, INSL5, WNT4, TRIM25RBM19FTSJ3, 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


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


Top

RelatedDrugs for COL6A1_RBM19


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for COL6A1_RBM19


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL6A1C1834674Bethlem myopathy5CTD_human;ORPHANET;UNIPROT
HgeneCOL6A1C0410179Scleroatonic muscular dystrophy3CTD_human;ORPHANET;UNIPROT
HgeneCOL6A1C0000786Spontaneous abortion1CTD_human
HgeneCOL6A1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCOL6A1C0024121Lung Neoplasms1CTD_human
HgeneCOL6A1C0026850Muscular Dystrophy1CTD_human