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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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Fusion gene:COL18A1-HNRNPH1 (FusionGDB2 ID:HG80781TG3187)

Fusion Gene Summary for COL18A1-HNRNPH1

check button Fusion gene summary
Fusion gene informationFusion gene name: COL18A1-HNRNPH1
Fusion gene ID: hg80781tg3187
HgeneTgene
Gene symbol

COL18A1

HNRNPH1

Gene ID

80781

3187

Gene namecollagen type XVIII alpha 1 chainheterogeneous nuclear ribonucleoprotein H1
SynonymsKNO|KNO1|KSHNRPH|HNRPH1|hnRNPH
Cytomap('COL18A1')('HNRNPH1')

21q22.3

5q35.3

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(XVIII) chainantiangiogenic agentcollagen alpha-1(XVIII) chain isoform 1 preproproteincollagen, type XVIII, alpha 1endostatinmulti-functional protein MFPheterogeneous nuclear ribonucleoprotein Hepididymis secretory sperm binding proteinheterogeneous nuclear ribonucleoprotein H1 (H)
Modification date2020031320200320
UniProtAcc

P39060

.
Ensembl transtripts involved in fusion geneENST00000355480, ENST00000359759, 
ENST00000400337, ENST00000459895, 
Fusion gene scores* DoF score10 X 9 X 9=81013 X 10 X 5=650
# samples 1114
** MAII scorelog2(11/810*10)=-2.88041838424733
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/650*10)=-2.21501289097085
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL18A1 [Title/Abstract] AND HNRNPH1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL18A1(46888700)-HNRNPH1(179048398), # samples:1
Anticipated loss of major functional domain due to fusion event.COL18A1-HNRNPH1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
COL18A1-HNRNPH1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
COL18A1-HNRNPH1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
COL18A1-HNRNPH1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
COL18A1-HNRNPH1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneHNRNPH1

GO:0043484

regulation of RNA splicing

16946708


check buttonFusion gene breakpoints across COL18A1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure
check buttonFusion gene breakpoints across HNRNPH1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4BRCATCGA-A7-A26FCOL18A1chr21

46888700

+HNRNPH1chr5

179048398

-


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Fusion Gene ORF analysis for COL18A1-HNRNPH1

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
5CDS-5UTRENST00000355480ENST00000524180COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
5CDS-5UTRENST00000359759ENST00000524180COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
5CDS-5UTRENST00000400337ENST00000524180COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
5CDS-intronENST00000355480ENST00000511300COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
5CDS-intronENST00000359759ENST00000511300COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
5CDS-intronENST00000400337ENST00000511300COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
Frame-shiftENST00000355480ENST00000329433COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
Frame-shiftENST00000355480ENST00000393432COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
Frame-shiftENST00000355480ENST00000442819COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
Frame-shiftENST00000359759ENST00000329433COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
Frame-shiftENST00000359759ENST00000393432COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
Frame-shiftENST00000359759ENST00000442819COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
Frame-shiftENST00000400337ENST00000329433COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
Frame-shiftENST00000400337ENST00000393432COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
Frame-shiftENST00000400337ENST00000442819COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
In-frameENST00000355480ENST00000356731COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
In-frameENST00000355480ENST00000510411COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
In-frameENST00000359759ENST00000356731COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
In-frameENST00000359759ENST00000510411COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
In-frameENST00000400337ENST00000356731COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
In-frameENST00000400337ENST00000510411COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
intron-3CDSENST00000459895ENST00000329433COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
intron-3CDSENST00000459895ENST00000356731COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
intron-3CDSENST00000459895ENST00000393432COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
intron-3CDSENST00000459895ENST00000442819COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
intron-3CDSENST00000459895ENST00000510411COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
intron-5UTRENST00000459895ENST00000524180COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-
intron-intronENST00000459895ENST00000511300COL18A1chr21

46888700

+HNRNPH1chr5

179048398

-

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)
ENST00000400337COL18A1chr2146888700+ENST00000356731HNRNPH1chr5179048398-27797458521997381
ENST00000400337COL18A1chr2146888700+ENST00000510411HNRNPH1chr5179048398-27177458521937361
ENST00000355480COL18A1chr2146888700+ENST00000356731HNRNPH1chr5179048398-32671233421349435
ENST00000355480COL18A1chr2146888700+ENST00000510411HNRNPH1chr5179048398-32051233421349435
ENST00000359759COL18A1chr2146888700+ENST00000356731HNRNPH1chr5179048398-39511917212033670
ENST00000359759COL18A1chr2146888700+ENST00000510411HNRNPH1chr5179048398-38891917212033670

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
ENST00000400337ENST00000356731COL18A1chr2146888700+HNRNPH1chr5179048398-0.0008341840.9991659
ENST00000400337ENST00000510411COL18A1chr2146888700+HNRNPH1chr5179048398-0.0006576350.9993424
ENST00000355480ENST00000356731COL18A1chr2146888700+HNRNPH1chr5179048398-0.0171960460.98280394
ENST00000355480ENST00000510411COL18A1chr2146888700+HNRNPH1chr5179048398-0.0162175190.9837825
ENST00000359759ENST00000356731COL18A1chr2146888700+HNRNPH1chr5179048398-0.0210771360.97892284
ENST00000359759ENST00000510411COL18A1chr2146888700+HNRNPH1chr5179048398-0.0204156950.97958434

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Fusion Genomic Features for COL18A1-HNRNPH1


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.
genomic feature

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Fusion Protein Features for COL18A1-HNRNPH1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr21:46888700/chr5:179048398)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
COL18A1

P39060

.
FUNCTION: Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube. {ECO:0000269|PubMed:10942434}.; FUNCTION: [Non-collagenous domain 1]: May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling. {ECO:0000269|PubMed:11257123}.; FUNCTION: [Endostatin]: Potently inhibits endothelial cell proliferation and angiogenesis (PubMed:9459295). May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner implicating integrin ITGA5:ITGB1 and to a lesser extent ITGAV:ITGB3 and ITGAV:ITGB5 (By similarity). May negatively regulate the activity of homotrimeric non-collagenous domain 1 (PubMed:11257123). {ECO:0000250|UniProtKB:P39061, ECO:0000269|PubMed:11257123, ECO:0000269|PubMed:9459295}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+241329_4466321755.0DomainFZ
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000356731013111_18832130.66666666666666DomainRRM 2
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000356731013289_36432130.66666666666666DomainRRM 3
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000393432114111_18832646.0DomainRRM 2
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000393432114289_36432646.0DomainRRM 3
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000442819114111_18832655.6666666666666DomainRRM 2
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000442819114289_36432655.6666666666666DomainRRM 3
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000356731013234_43332130.66666666666666RegionNote=2 X 16 AA Gly-rich approximate repeats
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000356731013354_39232130.66666666666666RegionNote=2 X 19 AA perfect repeats
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000393432114234_43332646.0RegionNote=2 X 16 AA Gly-rich approximate repeats
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000393432114354_39232646.0RegionNote=2 X 19 AA perfect repeats
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000442819114234_43332655.6666666666666RegionNote=2 X 16 AA Gly-rich approximate repeats
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000442819114354_39232655.6666666666666RegionNote=2 X 19 AA perfect repeats
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000356731013234_24932130.66666666666666RepeatNote=1-1
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000356731013354_37232130.66666666666666RepeatNote=2-1
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000356731013374_39232130.66666666666666RepeatNote=2-2
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000356731013418_43332130.66666666666666RepeatNote=1-2
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000393432114234_24932646.0RepeatNote=1-1
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000393432114354_37232646.0RepeatNote=2-1
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000393432114374_39232646.0RepeatNote=2-2
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000393432114418_43332646.0RepeatNote=1-2
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000442819114234_24932655.6666666666666RepeatNote=1-1
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000442819114354_37232655.6666666666666RepeatNote=2-1
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000442819114374_39232655.6666666666666RepeatNote=2-2
TgeneHNRNPH1chr21:46888700chr5:179048398ENST00000442819114418_43332655.6666666666666RepeatNote=1-2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+241329_4463971520.0DomainFZ
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+241456_6443971520.0DomainNote=Laminin G-like
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+241456_6446321755.0DomainNote=Laminin G-like
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+342329_4462171340.0DomainFZ
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+342456_6442171340.0DomainNote=Laminin G-like
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411330_13323971520.0MotifCell attachment site
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411330_13326321755.0MotifCell attachment site
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421330_13322171340.0MotifCell attachment site
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411022_10443971520.0RegionNote=Nonhelical region 4 (NC4)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411045_11273971520.0RegionNote=Triple-helical region 4 (COL4)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411128_11413971520.0RegionNote=Nonhelical region 5 (NC5)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411142_11833971520.0RegionNote=Triple-helical region 5 (COL5)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411184_11963971520.0RegionNote=Nonhelical region 6 (NC6)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411197_12693971520.0RegionNote=Triple-helical region 6 (COL6)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411270_12793971520.0RegionNote=Nonhelical region 7 (NC7)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411280_13123971520.0RegionNote=Triple-helical region 7 (COL7)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411313_13243971520.0RegionNote=Nonhelical region 8 (NC8)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411325_13463971520.0RegionNote=Triple-helical region 8 (COL8)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411347_13533971520.0RegionNote=Nonhelical region 9 (NC9)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411354_14113971520.0RegionNote=Triple-helical region 9 (COL9)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411412_14243971520.0RegionNote=Nonhelical region 10 (NC10)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411425_14423971520.0RegionNote=Triple-helical region 10 (COL10)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411443_17543971520.0RegionNote=Nonhelical region 11 (NC11)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411456_15013971520.0RegionNon-collagenous domain 1 association domain
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+2411502_15713971520.0RegionNon-collagenous domain 1 hinge region
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+241645_7513971520.0RegionNote=Nonhelical region 1 (NC1)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+241752_7853971520.0RegionNote=Triple-helical region 1 (COL1)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+241786_7953971520.0RegionNote=Nonhelical region 2 (NC2)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+241796_8753971520.0RegionNote=Triple-helical region 2 (COL2)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+241876_8993971520.0RegionNote=Nonhelical region 3 (NC3)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000355480+241900_10213971520.0RegionNote=Triple-helical region 3 (COL3)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411022_10446321755.0RegionNote=Nonhelical region 4 (NC4)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411045_11276321755.0RegionNote=Triple-helical region 4 (COL4)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411128_11416321755.0RegionNote=Nonhelical region 5 (NC5)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411142_11836321755.0RegionNote=Triple-helical region 5 (COL5)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411184_11966321755.0RegionNote=Nonhelical region 6 (NC6)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411197_12696321755.0RegionNote=Triple-helical region 6 (COL6)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411270_12796321755.0RegionNote=Nonhelical region 7 (NC7)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411280_13126321755.0RegionNote=Triple-helical region 7 (COL7)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411313_13246321755.0RegionNote=Nonhelical region 8 (NC8)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411325_13466321755.0RegionNote=Triple-helical region 8 (COL8)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411347_13536321755.0RegionNote=Nonhelical region 9 (NC9)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411354_14116321755.0RegionNote=Triple-helical region 9 (COL9)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411412_14246321755.0RegionNote=Nonhelical region 10 (NC10)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411425_14426321755.0RegionNote=Triple-helical region 10 (COL10)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411443_17546321755.0RegionNote=Nonhelical region 11 (NC11)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411456_15016321755.0RegionNon-collagenous domain 1 association domain
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+2411502_15716321755.0RegionNon-collagenous domain 1 hinge region
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+241645_7516321755.0RegionNote=Nonhelical region 1 (NC1)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+241752_7856321755.0RegionNote=Triple-helical region 1 (COL1)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+241786_7956321755.0RegionNote=Nonhelical region 2 (NC2)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+241796_8756321755.0RegionNote=Triple-helical region 2 (COL2)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+241876_8996321755.0RegionNote=Nonhelical region 3 (NC3)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000359759+241900_10216321755.0RegionNote=Triple-helical region 3 (COL3)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421022_10442171340.0RegionNote=Nonhelical region 4 (NC4)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421045_11272171340.0RegionNote=Triple-helical region 4 (COL4)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421128_11412171340.0RegionNote=Nonhelical region 5 (NC5)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421142_11832171340.0RegionNote=Triple-helical region 5 (COL5)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421184_11962171340.0RegionNote=Nonhelical region 6 (NC6)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421197_12692171340.0RegionNote=Triple-helical region 6 (COL6)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421270_12792171340.0RegionNote=Nonhelical region 7 (NC7)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421280_13122171340.0RegionNote=Triple-helical region 7 (COL7)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421313_13242171340.0RegionNote=Nonhelical region 8 (NC8)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421325_13462171340.0RegionNote=Triple-helical region 8 (COL8)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421347_13532171340.0RegionNote=Nonhelical region 9 (NC9)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421354_14112171340.0RegionNote=Triple-helical region 9 (COL9)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421412_14242171340.0RegionNote=Nonhelical region 10 (NC10)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421425_14422171340.0RegionNote=Triple-helical region 10 (COL10)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421443_17542171340.0RegionNote=Nonhelical region 11 (NC11)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421456_15012171340.0RegionNon-collagenous domain 1 association domain
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+3421502_15712171340.0RegionNon-collagenous domain 1 hinge region
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+342645_7512171340.0RegionNote=Nonhelical region 1 (NC1)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+342752_7852171340.0RegionNote=Triple-helical region 1 (COL1)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+342786_7952171340.0RegionNote=Nonhelical region 2 (NC2)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+342796_8752171340.0RegionNote=Triple-helical region 2 (COL2)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+342876_8992171340.0RegionNote=Nonhelical region 3 (NC3)
HgeneCOL18A1chr21:46888700chr5:179048398ENST00000400337+342900_10212171340.0RegionNote=Triple-helical region 3 (COL3)
TgeneHNRNPH1chr21:46888700chr5:179048398ENST0000035673101311_9032130.66666666666666DomainRRM 1
TgeneHNRNPH1chr21:46888700chr5:179048398ENST0000039343211411_9032646.0DomainRRM 1
TgeneHNRNPH1chr21:46888700chr5:179048398ENST0000044281911411_9032655.6666666666666DomainRRM 1


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Fusion Gene Sequence for COL18A1-HNRNPH1


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.
>18093_18093_1_COL18A1-HNRNPH1_COL18A1_chr21_46888700_ENST00000355480_HNRNPH1_chr5_179048398_ENST00000356731_length(transcript)=3267nt_BP=1233nt
AGAGGCCCTCCCGCCGCCCGCAGCTCCAGCCGCACTGCCCCGATGGCTCCCTACCCCTGTGGCTGCCACATCCTGCTGCTGCTCTTCTGC
TGCCTGGCGGCTGCCCGGGCCAACCTGCTGAACCTGAACTGGCTTTGGTTCAATAATGAGGACACCAGCCATGCAGCTACCACGATCCCT
GAGCCCCAGGGGCCCCTGCCTGTGCAGCCCACAGCAGATACCACCACACACGTGACCCCCCGGAATGGTTCCACAGAGCCAGCGACAGCC
CCTGGCAGCCCTGAGCCACCCTCAGAGCTGCTGGAAGATGGCCAGGACACCCCCACTTCTGCCGAGAGCCCGGACGCGCCAGAGGAGAAC
ATTGCCGGTGTCGGAGCCGAGATCCTGAACGTGGCCAAAGGCATCCGGAGCTTCGTCCAGCTGTGGAATGACACTGTCCCCACTGAGAGC
TTGGCCAGGGCGGAAACCCTGGTCCTGGAGACTCCTGTGGGCCCCCTTGCCCTCGCTGGGCCTTCCAGCACCCCCCAGGAGAATGGGACC
ACTCTCTGGCCCAGCCGTGGCATTCCTAGCTCTCCGGGCGCCCACACAACCGAGGCTGGCACCTTGCCTGCACCCACCCCATCGCCTCCC
TCCCTGGGCAGGCCCTGGGCACCACTCACGGGGCCCTCAGTGCCACCACCATCTTCAGAGCGCATCAGCGAGGAGGTGGGGCTGCTGCAG
CTCCTTGGGGACCCCCCGCCCCAGCAGGTCACCCAGACGGATGACCCCGACGTCGGGCTGGCCTACGTCTTTGGGCCAGATGCCAACAGT
GGCCAAGTGGCCCGGTACCACTTCCCCAGCCTCTTCTTCCGTGACTTCTCACTGCTGTTCCACATCCGGCCAGCCACAGAGGGCCCAGGG
GTGCTGTTCGCCATCACGGACTCGGCGCAGGCCATGGTCTTGCTGGGCGTGAAGCTCTCTGGGGTGCAGGACGGGCACCAGGACATCTCC
CTGCTCTACACAGAACCAGGTGCAGGCCAGACCCACACAGCCGCCAGCTTCCGGCTCCCCGCCTTCGTCGGCCAGTGGACACACTTAGCC
CTCAGTGTGGCAGGTGGCTTTGTGGCCCTCTACGTGGACTGTGAGGAGTTCCAGAGAATGCCGCTTGCTCGGTCCTCACGGGGCCTGGAG
CTGGAGCCTGGCGCCGGGCTCTTCGTGGCTCAGGCGGGGGGAGCGGACCCTGACAAGTTCCAGACTGCAAAATTCAAAATGGGGCTCAAG
GTATTCGTTTCATCTACACCAGAGAAGGCAGACCAAGTGGCGAGGCTTTTGTTGAACTTGAATCAGAAGATGAAGTCAAATTGGCCCTGA
AAAAAGACAGAGAAACTATGGGACACAGATATGTTGAAGTATTCAAGTCAAACAACGTTGAAATGGATTGGGTGTTGAAGCATACTGGTC
CAAATAGTCCTGACACGGCCAATGATGGCTTTGTACGGCTTAGAGGACTTCCCTTTGGATGTAGCAAGGAAGAAATTGTTCAGTTCTTCT
CAGGGTTGGAAATCGTGCCAAATGGGATAACATTGCCGGTGGACTTCCAGGGGAGGAGTACGGGGGAGGCCTTCGTGCAGTTTGCTTCAC
AGGAAATAGCTGAAAAGGCTCTAAAGAAACACAAGGAAAGAATAGGGCACAGGTATATTGAAATCTTTAAGAGCAGTAGAGCTGAAGTTA
GAACTCATTATGATCCACCACGAAAGCTTATGGCCATGCAGCGGCCAGGTCCTTATGACAGACCTGGGGCTGGTAGAGGGTATAACAGCA
TTGGCAGAGGAGCTGGCTTTGAGAGGATGAGGCGTGGTGCTTATGGTGGAGGCTATGGAGGCTATGATGATTACAATGGCTATAATGATG
GCTATGGATTTGGGTCAGATAGATTTGGAAGAGACCTCAATTACTGTTTTTCAGGAATGTCTGATCACAGATACGGGGATGGTGGCTCTA
CTTTCCAGAGCACAACAGGACACTGTGTACACATGCGGGGATTACCTTACAGAGCTACTGAGAATGACATTTATAATTTTTTTTCACCGC
TCAACCCTGTGAGAGTACACATTGAAATTGGTCCTGATGGCAGAGTAACTGGTGAAGCAGATGTCGAGTTCGCAACTCATGAAGATGCTG
TGGCAGCTATGTCAAAAGACAAAGCAAATATGCAACACAGATATGTAGAACTCTTCTTGAATTCTACAGCAGGAGCAAGCGGTGGTGCTT
ACGAACACAGATATGTAGAACTCTTCTTGAATTCTACAGCAGGAGCAAGCGGTGGTGCTTATGGTAGCCAAATGATGGGAGGCATGGGCT
TGTCAAACCAGTCCAGCTACGGGGGCCCAGCCAGCCAGCAGCTGAGTGGGGGTTACGGAGGCGGCTACGGTGGCCAGAGCAGCATGAGTG
GATACGACCAAGTTTTACAGGAAAACTCCAGTGATTTTCAATCAAACATTGCATAGGTAACCAAGGAGCAGTGAACAGCAGCTACTACAG
TAGTGGAAGCCGTGCATCTATGGGCGTGAACGGAATGGGAGGGTTGTCTAGCATGTCCAGTATGAGTGGTGGATGGGGAATGTAATTGAT
CGATCCTGATCACTGACTCTTGGTCAACCTTTTTTTTTTTTTTTTTTTTTTCTTTAAGAAAACTTCAGTTTAACAGTTTCTGCAATACAA
GCTTGTGATTTATGCTTACTCTAAGTGGAAATCAGGATTGTTATGAAGACTTAAGGCCCAGTATTTTTGAATACAATACTCATCTAGGAT
GTAACAGTGAAGCTGAGTAAACTATAACTGTTAAACTTAAGTTCCAGCTTTTCTCAAGTTAGTTATAGGATGTACTTAAGCAGTAAGCGT
ATTTAGGTAAAAGCAGTTGAATTATGTTAAATGTTGCCCTTTGCCACGTTAAATTGAACACTGTTTTGGATGCATGTTGAAAGACATGCT
TTTATTTTTTTGTAAAACAATATAGGAGCTGTGTCTACTATTAAAAGTGAAACATTTTGGCATGTTTGTTAATTCTAGTTTCATTTAATA
ACCTGTAAGGCACGTAAGTTTAAGCTTTTTTTTTTTTTAAGTTAATGGGAAAAATTTGAGACGCAATACCAATACTTAGGATTTTGGTCT
TGGTGTTTGTATGAAATTCTGAGGCCTTGATTTAAATCTTTCATTGTATTGTGATTTCCTTTTAGGTATATTGCGCTAAGTGAAACTTGT

>18093_18093_1_COL18A1-HNRNPH1_COL18A1_chr21_46888700_ENST00000355480_HNRNPH1_chr5_179048398_ENST00000356731_length(amino acids)=435AA_BP=395
MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADTTTHVTPRNGSTEPATAPGSPEPPSELLEDG
QDTPTSAESPDAPEENIAGVGAEILNVAKGIRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGA
HTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSERISEEVGLLQLLGDPPPQQVTQTDDPDVGLAYVFGPDANSGQVARYHFPSLFFR
DFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKLSGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDC

--------------------------------------------------------------
>18093_18093_2_COL18A1-HNRNPH1_COL18A1_chr21_46888700_ENST00000355480_HNRNPH1_chr5_179048398_ENST00000510411_length(transcript)=3205nt_BP=1233nt
AGAGGCCCTCCCGCCGCCCGCAGCTCCAGCCGCACTGCCCCGATGGCTCCCTACCCCTGTGGCTGCCACATCCTGCTGCTGCTCTTCTGC
TGCCTGGCGGCTGCCCGGGCCAACCTGCTGAACCTGAACTGGCTTTGGTTCAATAATGAGGACACCAGCCATGCAGCTACCACGATCCCT
GAGCCCCAGGGGCCCCTGCCTGTGCAGCCCACAGCAGATACCACCACACACGTGACCCCCCGGAATGGTTCCACAGAGCCAGCGACAGCC
CCTGGCAGCCCTGAGCCACCCTCAGAGCTGCTGGAAGATGGCCAGGACACCCCCACTTCTGCCGAGAGCCCGGACGCGCCAGAGGAGAAC
ATTGCCGGTGTCGGAGCCGAGATCCTGAACGTGGCCAAAGGCATCCGGAGCTTCGTCCAGCTGTGGAATGACACTGTCCCCACTGAGAGC
TTGGCCAGGGCGGAAACCCTGGTCCTGGAGACTCCTGTGGGCCCCCTTGCCCTCGCTGGGCCTTCCAGCACCCCCCAGGAGAATGGGACC
ACTCTCTGGCCCAGCCGTGGCATTCCTAGCTCTCCGGGCGCCCACACAACCGAGGCTGGCACCTTGCCTGCACCCACCCCATCGCCTCCC
TCCCTGGGCAGGCCCTGGGCACCACTCACGGGGCCCTCAGTGCCACCACCATCTTCAGAGCGCATCAGCGAGGAGGTGGGGCTGCTGCAG
CTCCTTGGGGACCCCCCGCCCCAGCAGGTCACCCAGACGGATGACCCCGACGTCGGGCTGGCCTACGTCTTTGGGCCAGATGCCAACAGT
GGCCAAGTGGCCCGGTACCACTTCCCCAGCCTCTTCTTCCGTGACTTCTCACTGCTGTTCCACATCCGGCCAGCCACAGAGGGCCCAGGG
GTGCTGTTCGCCATCACGGACTCGGCGCAGGCCATGGTCTTGCTGGGCGTGAAGCTCTCTGGGGTGCAGGACGGGCACCAGGACATCTCC
CTGCTCTACACAGAACCAGGTGCAGGCCAGACCCACACAGCCGCCAGCTTCCGGCTCCCCGCCTTCGTCGGCCAGTGGACACACTTAGCC
CTCAGTGTGGCAGGTGGCTTTGTGGCCCTCTACGTGGACTGTGAGGAGTTCCAGAGAATGCCGCTTGCTCGGTCCTCACGGGGCCTGGAG
CTGGAGCCTGGCGCCGGGCTCTTCGTGGCTCAGGCGGGGGGAGCGGACCCTGACAAGTTCCAGACTGCAAAATTCAAAATGGGGCTCAAG
GTATTCGTTTCATCTACACCAGAGAAGGCAGACCAAGTGGCGAGGCTTTTGTTGAACTTGAATCAGAAGATGAAGTCAAATTGGCCCTGA
AAAAAGACAGAGAAACTATGGGACACAGATATGTTGAAGTATTCAAGTCAAACAACGTTGAAATGGATTGGGTGTTGAAGCATACTGGTC
CAAATAGTCCTGACACGGCCAATGATGGCTTTGTACGGCTTAGAGGACTTCCCTTTGGATGTAGCAAGGAAGAAATTGTTCAGTTCTTCT
CAGGGTTGGAAATCGTGCCAAATGGGATAACATTGCCGGTGGACTTCCAGGGGAGGAGTACGGGGGAGGCCTTCGTGCAGTTTGCTTCAC
AGGAAATAGCTGAAAAGGCTCTAAAGAAACACAAGGAAAGAATAGGGCACAGGTATATTGAAATCTTTAAGAGCAGTAGAGCTGAAGTTA
GAACTCATTATGATCCACCACGAAAGCTTATGGCCATGCAGCGGCCAGGTCCTTATGACAGACCTGGGGCTGGTAGAGGGTATAACAGCA
TTGGCAGAGGAGCTGGCTTTGAGAGGATGAGGCGTGGTGCTTATGGTGGAGGCTATGGAGGCTATGATGATTACAATGGCTATAATGATG
GCTATGGATTTGGGTCAGATAGATTTGGAAGAGACCTCAATTACTGTTTTTCAGGAATGTCTGATCACAGATACGGGGATGGTGGCTCTA
CTTTCCAGAGCACAACAGGACACTGTGTACACATGCGGGGATTACCTTACAGAGCTACTGAGAATGACATTTATAATTTTTTTTCACCGC
TCAACCCTGTGAGAGTACACATTGAAATTGGTCCTGATGGCAGAGTAACTGGTGAAGCAGATGTCGAGTTCGCAACTCATGAAGATGCTG
TGGCAGCTATGTCAAAAGACAAAGCAAATATGCAACACAGATATGTAGAACTCTTCTTGAATTCTACAGCAGGAGCAAGCGGTGGTGCTT
ACGGTAGCCAAATGCTAGGAGGCATGGGTTTGTCAAACCAGTCCAGCTACGGGGGCCCAGCCAGCCAGCAGCTGAGTGGGGGTTACGGAG
GCGGCTACGGTGGCCAGAGCAGCATGAGTGGATACGACCAAGTTTTACAGGAAAACTCCAGTGATTTTCAATCAAACATTGCATAGGTAA
CCAAGGAGCAGTGAACAGCAGCTACTACAGTAGTGGAAGCCGTGCATCTATGGGCGTGAACGGAATGGGAGGGTTGTCTAGCATGTCCAG
TATGAGTGGTGGATGGGGAATGTAATTGATCGATCCTGATCACTGACTCTTGGTCAACCTTTTTTTTTTTTTTTTTTTTTTCTTTAAGAA
AACTTCAGTTTAACAGTTTCTGCAATACAAGCTTGTGATTTATGCTTACTCTAAGTGGAAATCAGGATTGTTATGAAGACTTAAGGCCCA
GTATTTTTGAATACAATACTCATCTAGGATGTAACAGTGAAGCTGAGTAAACTATAACTGTTAAACTTAAGTTCCAGCTTTTCTCAAGTT
AGTTATAGGATGTACTTAAGCAGTAAGCGTATTTAGGTAAAAGCAGTTGAATTATGTTAAATGTTGCCCTTTGCCACGTTAAATTGAACA
CTGTTTTGGATGCATGTTGAAAGACATGCTTTTATTTTTTTGTAAAACAATATAGGAGCTGTGTCTACTATTAAAAGTGAAACATTTTGG
CATGTTTGTTAATTCTAGTTTCATTTAATAACCTGTAAGGCACGTAAGTTTAAGCTTTTTTTTTTTTTAAGTTAATGGGAAAAATTTGAG
ACGCAATACCAATACTTAGGATTTTGGTCTTGGTGTTTGTATGAAATTCTGAGGCCTTGATTTAAATCTTTCATTGTATTGTGATTTCCT

>18093_18093_2_COL18A1-HNRNPH1_COL18A1_chr21_46888700_ENST00000355480_HNRNPH1_chr5_179048398_ENST00000510411_length(amino acids)=435AA_BP=395
MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADTTTHVTPRNGSTEPATAPGSPEPPSELLEDG
QDTPTSAESPDAPEENIAGVGAEILNVAKGIRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGA
HTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSERISEEVGLLQLLGDPPPQQVTQTDDPDVGLAYVFGPDANSGQVARYHFPSLFFR
DFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKLSGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDC

--------------------------------------------------------------
>18093_18093_3_COL18A1-HNRNPH1_COL18A1_chr21_46888700_ENST00000359759_HNRNPH1_chr5_179048398_ENST00000356731_length(transcript)=3951nt_BP=1917nt
AGCTCCAGCCGCACTGCCCCGATGGCTCCCTACCCCTGTGGCTGCCACATCCTGCTGCTGCTCTTCTGCTGCCTGGCGGCTGCCCGGGCC
AACCTGCTGAACCTGAACTGGCTTTGGTTCAATAATGAGGACACCAGCCATGCAGCTACCACGATCCCTGAGCCCCAGGGGCCCCTGCCT
GTGCAGCCCACAGCAGATACCACCACACACGTGACCCCCCGGAATGGTTCCACAGAGCCAGCGACAGCCCCTGGCAGCCCTGAGCCACCC
TCAGAGCTGCTGGAAGATGGCCAGGACACCCCCACTTCTGCCGAGAGCCCGGACGCGCCAGAGGAGAACATTGCCGGTGTCGGAGCCGAG
ATCCTGAACGTGGCCAAAGGCATCCGGAGCTTCGTCCAGCTGTGGAATGACACTGTCCCCACTGAGAGCTTGGCCAGGGCGGAAACCCTG
GTCCTGGAGACTCCTGTGGGCCCCCTTGCCCTCGCTGGGCCTTCCAGCACCCCCCAGGAGAATGGGACCACTCTCTGGCCCAGCCGTGGC
ATTCCTAGCTCTCCGGGCGCCCACACAACCGAGGCTGGCACCTTGCCTGCACCCACCCCATCGCCTCCCTCCCTGGGCAGGCCCTGGGCA
CCACTCACGGGGCCCTCAGTGCCACCACCATCTTCAGGTAGAGCTTCTCTCTCCTCCTTGCTGGGCGGGGCCCCTCCCTGGGGAAGCCTG
CAGGACCCAGACAGCCAAGGACTCTCGCCCGCCGCAGCCGCTCCCAGCCAGCAGCTCCAACGCCCTGACGTCCGCCTGCGCACGCCACTT
CTGCACCCCCTGGTGATGGGCTCCCTGGGCAAGCACGCGGCCCCCTCCGCCTTCTCCTCTGGGCTCCCGGGCGCACTGTCTCAGGTCGCA
GTCACCACTTTAACCAGGGACAGCGGTGCTTGGGTCTCCCACGTGGCTAACTCTGTGGGGCCGGGTCTTGCTAATAACTCTGCCCTGCTC
GGGGCTGACCCCGAGGCCCCCGCCGGTCGCTGCCTGCCCCTGCCACCCTCCCTGCCAGTCTGCGGCCACCTGGGCATCTCACGCTTCTGG
CTGCCCAACCACCTCCACCACGAGAGCGGCGAGCAGGTGCGGGCCGGGGCACGGGCGTGGGGGGGCCTGCTGCAGACGCACTGCCACCCC
TTCCTCGCCTGGTTCTTCTGCCTGCTGCTGGTCCCCCCATGCGGCAGCGTCCCGCCGCCCGCCCCGCCACCCTGCTGCCAGTTCTGCGAG
GCCCTGCAGGATGCGTGTTGGAGCCGCCTGGGCGGGGGCCGGCTGCCCGTCGCCTGTGCCTCGCTCCCGACCCAGGAGGATGGGTACTGT
GTGCTCATTGGGCCGGCTGCAGAGCGCATCAGCGAGGAGGTGGGGCTGCTGCAGCTCCTTGGGGACCCCCCGCCCCAGCAGGTCACCCAG
ACGGATGACCCCGACGTCGGGCTGGCCTACGTCTTTGGGCCAGATGCCAACAGTGGCCAAGTGGCCCGGTACCACTTCCCCAGCCTCTTC
TTCCGTGACTTCTCACTGCTGTTCCACATCCGGCCAGCCACAGAGGGCCCAGGGGTGCTGTTCGCCATCACGGACTCGGCGCAGGCCATG
GTCTTGCTGGGCGTGAAGCTCTCTGGGGTGCAGGACGGGCACCAGGACATCTCCCTGCTCTACACAGAACCAGGTGCAGGCCAGACCCAC
ACAGCCGCCAGCTTCCGGCTCCCCGCCTTCGTCGGCCAGTGGACACACTTAGCCCTCAGTGTGGCAGGTGGCTTTGTGGCCCTCTACGTG
GACTGTGAGGAGTTCCAGAGAATGCCGCTTGCTCGGTCCTCACGGGGCCTGGAGCTGGAGCCTGGCGCCGGGCTCTTCGTGGCTCAGGCG
GGGGGAGCGGACCCTGACAAGTTCCAGACTGCAAAATTCAAAATGGGGCTCAAGGTATTCGTTTCATCTACACCAGAGAAGGCAGACCAA
GTGGCGAGGCTTTTGTTGAACTTGAATCAGAAGATGAAGTCAAATTGGCCCTGAAAAAAGACAGAGAAACTATGGGACACAGATATGTTG
AAGTATTCAAGTCAAACAACGTTGAAATGGATTGGGTGTTGAAGCATACTGGTCCAAATAGTCCTGACACGGCCAATGATGGCTTTGTAC
GGCTTAGAGGACTTCCCTTTGGATGTAGCAAGGAAGAAATTGTTCAGTTCTTCTCAGGGTTGGAAATCGTGCCAAATGGGATAACATTGC
CGGTGGACTTCCAGGGGAGGAGTACGGGGGAGGCCTTCGTGCAGTTTGCTTCACAGGAAATAGCTGAAAAGGCTCTAAAGAAACACAAGG
AAAGAATAGGGCACAGGTATATTGAAATCTTTAAGAGCAGTAGAGCTGAAGTTAGAACTCATTATGATCCACCACGAAAGCTTATGGCCA
TGCAGCGGCCAGGTCCTTATGACAGACCTGGGGCTGGTAGAGGGTATAACAGCATTGGCAGAGGAGCTGGCTTTGAGAGGATGAGGCGTG
GTGCTTATGGTGGAGGCTATGGAGGCTATGATGATTACAATGGCTATAATGATGGCTATGGATTTGGGTCAGATAGATTTGGAAGAGACC
TCAATTACTGTTTTTCAGGAATGTCTGATCACAGATACGGGGATGGTGGCTCTACTTTCCAGAGCACAACAGGACACTGTGTACACATGC
GGGGATTACCTTACAGAGCTACTGAGAATGACATTTATAATTTTTTTTCACCGCTCAACCCTGTGAGAGTACACATTGAAATTGGTCCTG
ATGGCAGAGTAACTGGTGAAGCAGATGTCGAGTTCGCAACTCATGAAGATGCTGTGGCAGCTATGTCAAAAGACAAAGCAAATATGCAAC
ACAGATATGTAGAACTCTTCTTGAATTCTACAGCAGGAGCAAGCGGTGGTGCTTACGAACACAGATATGTAGAACTCTTCTTGAATTCTA
CAGCAGGAGCAAGCGGTGGTGCTTATGGTAGCCAAATGATGGGAGGCATGGGCTTGTCAAACCAGTCCAGCTACGGGGGCCCAGCCAGCC
AGCAGCTGAGTGGGGGTTACGGAGGCGGCTACGGTGGCCAGAGCAGCATGAGTGGATACGACCAAGTTTTACAGGAAAACTCCAGTGATT
TTCAATCAAACATTGCATAGGTAACCAAGGAGCAGTGAACAGCAGCTACTACAGTAGTGGAAGCCGTGCATCTATGGGCGTGAACGGAAT
GGGAGGGTTGTCTAGCATGTCCAGTATGAGTGGTGGATGGGGAATGTAATTGATCGATCCTGATCACTGACTCTTGGTCAACCTTTTTTT
TTTTTTTTTTTTTTTCTTTAAGAAAACTTCAGTTTAACAGTTTCTGCAATACAAGCTTGTGATTTATGCTTACTCTAAGTGGAAATCAGG
ATTGTTATGAAGACTTAAGGCCCAGTATTTTTGAATACAATACTCATCTAGGATGTAACAGTGAAGCTGAGTAAACTATAACTGTTAAAC
TTAAGTTCCAGCTTTTCTCAAGTTAGTTATAGGATGTACTTAAGCAGTAAGCGTATTTAGGTAAAAGCAGTTGAATTATGTTAAATGTTG
CCCTTTGCCACGTTAAATTGAACACTGTTTTGGATGCATGTTGAAAGACATGCTTTTATTTTTTTGTAAAACAATATAGGAGCTGTGTCT
ACTATTAAAAGTGAAACATTTTGGCATGTTTGTTAATTCTAGTTTCATTTAATAACCTGTAAGGCACGTAAGTTTAAGCTTTTTTTTTTT
TTAAGTTAATGGGAAAAATTTGAGACGCAATACCAATACTTAGGATTTTGGTCTTGGTGTTTGTATGAAATTCTGAGGCCTTGATTTAAA

>18093_18093_3_COL18A1-HNRNPH1_COL18A1_chr21_46888700_ENST00000359759_HNRNPH1_chr5_179048398_ENST00000356731_length(amino acids)=670AA_BP=630
MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADTTTHVTPRNGSTEPATAPGSPEPPSELLEDG
QDTPTSAESPDAPEENIAGVGAEILNVAKGIRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGA
HTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSGRASLSSLLGGAPPWGSLQDPDSQGLSPAAAAPSQQLQRPDVRLRTPLLHPLVMG
SLGKHAAPSAFSSGLPGALSQVAVTTLTRDSGAWVSHVANSVGPGLANNSALLGADPEAPAGRCLPLPPSLPVCGHLGISRFWLPNHLHH
ESGEQVRAGARAWGGLLQTHCHPFLAWFFCLLLVPPCGSVPPPAPPPCCQFCEALQDACWSRLGGGRLPVACASLPTQEDGYCVLIGPAA
ERISEEVGLLQLLGDPPPQQVTQTDDPDVGLAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKL
SGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQRMPLARSSRGLELEPGAGLFVAQAGGADPDK

--------------------------------------------------------------
>18093_18093_4_COL18A1-HNRNPH1_COL18A1_chr21_46888700_ENST00000359759_HNRNPH1_chr5_179048398_ENST00000510411_length(transcript)=3889nt_BP=1917nt
AGCTCCAGCCGCACTGCCCCGATGGCTCCCTACCCCTGTGGCTGCCACATCCTGCTGCTGCTCTTCTGCTGCCTGGCGGCTGCCCGGGCC
AACCTGCTGAACCTGAACTGGCTTTGGTTCAATAATGAGGACACCAGCCATGCAGCTACCACGATCCCTGAGCCCCAGGGGCCCCTGCCT
GTGCAGCCCACAGCAGATACCACCACACACGTGACCCCCCGGAATGGTTCCACAGAGCCAGCGACAGCCCCTGGCAGCCCTGAGCCACCC
TCAGAGCTGCTGGAAGATGGCCAGGACACCCCCACTTCTGCCGAGAGCCCGGACGCGCCAGAGGAGAACATTGCCGGTGTCGGAGCCGAG
ATCCTGAACGTGGCCAAAGGCATCCGGAGCTTCGTCCAGCTGTGGAATGACACTGTCCCCACTGAGAGCTTGGCCAGGGCGGAAACCCTG
GTCCTGGAGACTCCTGTGGGCCCCCTTGCCCTCGCTGGGCCTTCCAGCACCCCCCAGGAGAATGGGACCACTCTCTGGCCCAGCCGTGGC
ATTCCTAGCTCTCCGGGCGCCCACACAACCGAGGCTGGCACCTTGCCTGCACCCACCCCATCGCCTCCCTCCCTGGGCAGGCCCTGGGCA
CCACTCACGGGGCCCTCAGTGCCACCACCATCTTCAGGTAGAGCTTCTCTCTCCTCCTTGCTGGGCGGGGCCCCTCCCTGGGGAAGCCTG
CAGGACCCAGACAGCCAAGGACTCTCGCCCGCCGCAGCCGCTCCCAGCCAGCAGCTCCAACGCCCTGACGTCCGCCTGCGCACGCCACTT
CTGCACCCCCTGGTGATGGGCTCCCTGGGCAAGCACGCGGCCCCCTCCGCCTTCTCCTCTGGGCTCCCGGGCGCACTGTCTCAGGTCGCA
GTCACCACTTTAACCAGGGACAGCGGTGCTTGGGTCTCCCACGTGGCTAACTCTGTGGGGCCGGGTCTTGCTAATAACTCTGCCCTGCTC
GGGGCTGACCCCGAGGCCCCCGCCGGTCGCTGCCTGCCCCTGCCACCCTCCCTGCCAGTCTGCGGCCACCTGGGCATCTCACGCTTCTGG
CTGCCCAACCACCTCCACCACGAGAGCGGCGAGCAGGTGCGGGCCGGGGCACGGGCGTGGGGGGGCCTGCTGCAGACGCACTGCCACCCC
TTCCTCGCCTGGTTCTTCTGCCTGCTGCTGGTCCCCCCATGCGGCAGCGTCCCGCCGCCCGCCCCGCCACCCTGCTGCCAGTTCTGCGAG
GCCCTGCAGGATGCGTGTTGGAGCCGCCTGGGCGGGGGCCGGCTGCCCGTCGCCTGTGCCTCGCTCCCGACCCAGGAGGATGGGTACTGT
GTGCTCATTGGGCCGGCTGCAGAGCGCATCAGCGAGGAGGTGGGGCTGCTGCAGCTCCTTGGGGACCCCCCGCCCCAGCAGGTCACCCAG
ACGGATGACCCCGACGTCGGGCTGGCCTACGTCTTTGGGCCAGATGCCAACAGTGGCCAAGTGGCCCGGTACCACTTCCCCAGCCTCTTC
TTCCGTGACTTCTCACTGCTGTTCCACATCCGGCCAGCCACAGAGGGCCCAGGGGTGCTGTTCGCCATCACGGACTCGGCGCAGGCCATG
GTCTTGCTGGGCGTGAAGCTCTCTGGGGTGCAGGACGGGCACCAGGACATCTCCCTGCTCTACACAGAACCAGGTGCAGGCCAGACCCAC
ACAGCCGCCAGCTTCCGGCTCCCCGCCTTCGTCGGCCAGTGGACACACTTAGCCCTCAGTGTGGCAGGTGGCTTTGTGGCCCTCTACGTG
GACTGTGAGGAGTTCCAGAGAATGCCGCTTGCTCGGTCCTCACGGGGCCTGGAGCTGGAGCCTGGCGCCGGGCTCTTCGTGGCTCAGGCG
GGGGGAGCGGACCCTGACAAGTTCCAGACTGCAAAATTCAAAATGGGGCTCAAGGTATTCGTTTCATCTACACCAGAGAAGGCAGACCAA
GTGGCGAGGCTTTTGTTGAACTTGAATCAGAAGATGAAGTCAAATTGGCCCTGAAAAAAGACAGAGAAACTATGGGACACAGATATGTTG
AAGTATTCAAGTCAAACAACGTTGAAATGGATTGGGTGTTGAAGCATACTGGTCCAAATAGTCCTGACACGGCCAATGATGGCTTTGTAC
GGCTTAGAGGACTTCCCTTTGGATGTAGCAAGGAAGAAATTGTTCAGTTCTTCTCAGGGTTGGAAATCGTGCCAAATGGGATAACATTGC
CGGTGGACTTCCAGGGGAGGAGTACGGGGGAGGCCTTCGTGCAGTTTGCTTCACAGGAAATAGCTGAAAAGGCTCTAAAGAAACACAAGG
AAAGAATAGGGCACAGGTATATTGAAATCTTTAAGAGCAGTAGAGCTGAAGTTAGAACTCATTATGATCCACCACGAAAGCTTATGGCCA
TGCAGCGGCCAGGTCCTTATGACAGACCTGGGGCTGGTAGAGGGTATAACAGCATTGGCAGAGGAGCTGGCTTTGAGAGGATGAGGCGTG
GTGCTTATGGTGGAGGCTATGGAGGCTATGATGATTACAATGGCTATAATGATGGCTATGGATTTGGGTCAGATAGATTTGGAAGAGACC
TCAATTACTGTTTTTCAGGAATGTCTGATCACAGATACGGGGATGGTGGCTCTACTTTCCAGAGCACAACAGGACACTGTGTACACATGC
GGGGATTACCTTACAGAGCTACTGAGAATGACATTTATAATTTTTTTTCACCGCTCAACCCTGTGAGAGTACACATTGAAATTGGTCCTG
ATGGCAGAGTAACTGGTGAAGCAGATGTCGAGTTCGCAACTCATGAAGATGCTGTGGCAGCTATGTCAAAAGACAAAGCAAATATGCAAC
ACAGATATGTAGAACTCTTCTTGAATTCTACAGCAGGAGCAAGCGGTGGTGCTTACGGTAGCCAAATGCTAGGAGGCATGGGTTTGTCAA
ACCAGTCCAGCTACGGGGGCCCAGCCAGCCAGCAGCTGAGTGGGGGTTACGGAGGCGGCTACGGTGGCCAGAGCAGCATGAGTGGATACG
ACCAAGTTTTACAGGAAAACTCCAGTGATTTTCAATCAAACATTGCATAGGTAACCAAGGAGCAGTGAACAGCAGCTACTACAGTAGTGG
AAGCCGTGCATCTATGGGCGTGAACGGAATGGGAGGGTTGTCTAGCATGTCCAGTATGAGTGGTGGATGGGGAATGTAATTGATCGATCC
TGATCACTGACTCTTGGTCAACCTTTTTTTTTTTTTTTTTTTTTTCTTTAAGAAAACTTCAGTTTAACAGTTTCTGCAATACAAGCTTGT
GATTTATGCTTACTCTAAGTGGAAATCAGGATTGTTATGAAGACTTAAGGCCCAGTATTTTTGAATACAATACTCATCTAGGATGTAACA
GTGAAGCTGAGTAAACTATAACTGTTAAACTTAAGTTCCAGCTTTTCTCAAGTTAGTTATAGGATGTACTTAAGCAGTAAGCGTATTTAG
GTAAAAGCAGTTGAATTATGTTAAATGTTGCCCTTTGCCACGTTAAATTGAACACTGTTTTGGATGCATGTTGAAAGACATGCTTTTATT
TTTTTGTAAAACAATATAGGAGCTGTGTCTACTATTAAAAGTGAAACATTTTGGCATGTTTGTTAATTCTAGTTTCATTTAATAACCTGT
AAGGCACGTAAGTTTAAGCTTTTTTTTTTTTTAAGTTAATGGGAAAAATTTGAGACGCAATACCAATACTTAGGATTTTGGTCTTGGTGT
TTGTATGAAATTCTGAGGCCTTGATTTAAATCTTTCATTGTATTGTGATTTCCTTTTAGGTATATTGCGCTAAGTGAAACTTGTCAAATA

>18093_18093_4_COL18A1-HNRNPH1_COL18A1_chr21_46888700_ENST00000359759_HNRNPH1_chr5_179048398_ENST00000510411_length(amino acids)=670AA_BP=630
MAPYPCGCHILLLLFCCLAAARANLLNLNWLWFNNEDTSHAATTIPEPQGPLPVQPTADTTTHVTPRNGSTEPATAPGSPEPPSELLEDG
QDTPTSAESPDAPEENIAGVGAEILNVAKGIRSFVQLWNDTVPTESLARAETLVLETPVGPLALAGPSSTPQENGTTLWPSRGIPSSPGA
HTTEAGTLPAPTPSPPSLGRPWAPLTGPSVPPPSSGRASLSSLLGGAPPWGSLQDPDSQGLSPAAAAPSQQLQRPDVRLRTPLLHPLVMG
SLGKHAAPSAFSSGLPGALSQVAVTTLTRDSGAWVSHVANSVGPGLANNSALLGADPEAPAGRCLPLPPSLPVCGHLGISRFWLPNHLHH
ESGEQVRAGARAWGGLLQTHCHPFLAWFFCLLLVPPCGSVPPPAPPPCCQFCEALQDACWSRLGGGRLPVACASLPTQEDGYCVLIGPAA
ERISEEVGLLQLLGDPPPQQVTQTDDPDVGLAYVFGPDANSGQVARYHFPSLFFRDFSLLFHIRPATEGPGVLFAITDSAQAMVLLGVKL
SGVQDGHQDISLLYTEPGAGQTHTAASFRLPAFVGQWTHLALSVAGGFVALYVDCEEFQRMPLARSSRGLELEPGAGLFVAQAGGADPDK

--------------------------------------------------------------
>18093_18093_5_COL18A1-HNRNPH1_COL18A1_chr21_46888700_ENST00000400337_HNRNPH1_chr5_179048398_ENST00000356731_length(transcript)=2779nt_BP=745nt
CTCCCAGCGGCGGCGGCTGCAGCGCGGCGGTCCGAGCGGGTGCACCGCGGCGGAGGAGGCAGCATCCCGCGGCGCTGACGGTCCTGGGGA
GAGCATGGCGCCGAGGTGCCCCTGGCCATGGCCGCGGCGGCGGCGCCTCCTGGACGTGCTCGCGCCCCTGGTCCTGCTGCTCGGGGTCCG
CGCGGCCTCCGCGGAGCCAGAGCGCATCAGCGAGGAGGTGGGGCTGCTGCAGCTCCTTGGGGACCCCCCGCCCCAGCAGGTCACCCAGAC
GGATGACCCCGACGTCGGGCTGGCCTACGTCTTTGGGCCAGATGCCAACAGTGGCCAAGTGGCCCGGTACCACTTCCCCAGCCTCTTCTT
CCGTGACTTCTCACTGCTGTTCCACATCCGGCCAGCCACAGAGGGCCCAGGGGTGCTGTTCGCCATCACGGACTCGGCGCAGGCCATGGT
CTTGCTGGGCGTGAAGCTCTCTGGGGTGCAGGACGGGCACCAGGACATCTCCCTGCTCTACACAGAACCAGGTGCAGGCCAGACCCACAC
AGCCGCCAGCTTCCGGCTCCCCGCCTTCGTCGGCCAGTGGACACACTTAGCCCTCAGTGTGGCAGGTGGCTTTGTGGCCCTCTACGTGGA
CTGTGAGGAGTTCCAGAGAATGCCGCTTGCTCGGTCCTCACGGGGCCTGGAGCTGGAGCCTGGCGCCGGGCTCTTCGTGGCTCAGGCGGG
GGGAGCGGACCCTGACAAGTTCCAGACTGCAAAATTCAAAATGGGGCTCAAGGTATTCGTTTCATCTACACCAGAGAAGGCAGACCAAGT
GGCGAGGCTTTTGTTGAACTTGAATCAGAAGATGAAGTCAAATTGGCCCTGAAAAAAGACAGAGAAACTATGGGACACAGATATGTTGAA
GTATTCAAGTCAAACAACGTTGAAATGGATTGGGTGTTGAAGCATACTGGTCCAAATAGTCCTGACACGGCCAATGATGGCTTTGTACGG
CTTAGAGGACTTCCCTTTGGATGTAGCAAGGAAGAAATTGTTCAGTTCTTCTCAGGGTTGGAAATCGTGCCAAATGGGATAACATTGCCG
GTGGACTTCCAGGGGAGGAGTACGGGGGAGGCCTTCGTGCAGTTTGCTTCACAGGAAATAGCTGAAAAGGCTCTAAAGAAACACAAGGAA
AGAATAGGGCACAGGTATATTGAAATCTTTAAGAGCAGTAGAGCTGAAGTTAGAACTCATTATGATCCACCACGAAAGCTTATGGCCATG
CAGCGGCCAGGTCCTTATGACAGACCTGGGGCTGGTAGAGGGTATAACAGCATTGGCAGAGGAGCTGGCTTTGAGAGGATGAGGCGTGGT
GCTTATGGTGGAGGCTATGGAGGCTATGATGATTACAATGGCTATAATGATGGCTATGGATTTGGGTCAGATAGATTTGGAAGAGACCTC
AATTACTGTTTTTCAGGAATGTCTGATCACAGATACGGGGATGGTGGCTCTACTTTCCAGAGCACAACAGGACACTGTGTACACATGCGG
GGATTACCTTACAGAGCTACTGAGAATGACATTTATAATTTTTTTTCACCGCTCAACCCTGTGAGAGTACACATTGAAATTGGTCCTGAT
GGCAGAGTAACTGGTGAAGCAGATGTCGAGTTCGCAACTCATGAAGATGCTGTGGCAGCTATGTCAAAAGACAAAGCAAATATGCAACAC
AGATATGTAGAACTCTTCTTGAATTCTACAGCAGGAGCAAGCGGTGGTGCTTACGAACACAGATATGTAGAACTCTTCTTGAATTCTACA
GCAGGAGCAAGCGGTGGTGCTTATGGTAGCCAAATGATGGGAGGCATGGGCTTGTCAAACCAGTCCAGCTACGGGGGCCCAGCCAGCCAG
CAGCTGAGTGGGGGTTACGGAGGCGGCTACGGTGGCCAGAGCAGCATGAGTGGATACGACCAAGTTTTACAGGAAAACTCCAGTGATTTT
CAATCAAACATTGCATAGGTAACCAAGGAGCAGTGAACAGCAGCTACTACAGTAGTGGAAGCCGTGCATCTATGGGCGTGAACGGAATGG
GAGGGTTGTCTAGCATGTCCAGTATGAGTGGTGGATGGGGAATGTAATTGATCGATCCTGATCACTGACTCTTGGTCAACCTTTTTTTTT
TTTTTTTTTTTTTCTTTAAGAAAACTTCAGTTTAACAGTTTCTGCAATACAAGCTTGTGATTTATGCTTACTCTAAGTGGAAATCAGGAT
TGTTATGAAGACTTAAGGCCCAGTATTTTTGAATACAATACTCATCTAGGATGTAACAGTGAAGCTGAGTAAACTATAACTGTTAAACTT
AAGTTCCAGCTTTTCTCAAGTTAGTTATAGGATGTACTTAAGCAGTAAGCGTATTTAGGTAAAAGCAGTTGAATTATGTTAAATGTTGCC
CTTTGCCACGTTAAATTGAACACTGTTTTGGATGCATGTTGAAAGACATGCTTTTATTTTTTTGTAAAACAATATAGGAGCTGTGTCTAC
TATTAAAAGTGAAACATTTTGGCATGTTTGTTAATTCTAGTTTCATTTAATAACCTGTAAGGCACGTAAGTTTAAGCTTTTTTTTTTTTT
AAGTTAATGGGAAAAATTTGAGACGCAATACCAATACTTAGGATTTTGGTCTTGGTGTTTGTATGAAATTCTGAGGCCTTGATTTAAATC

>18093_18093_5_COL18A1-HNRNPH1_COL18A1_chr21_46888700_ENST00000400337_HNRNPH1_chr5_179048398_ENST00000356731_length(amino acids)=381AA_BP=
MALKKDRETMGHRYVEVFKSNNVEMDWVLKHTGPNSPDTANDGFVRLRGLPFGCSKEEIVQFFSGLEIVPNGITLPVDFQGRSTGEAFVQ
FASQEIAEKALKKHKERIGHRYIEIFKSSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGAGFERMRRGAYGGGYGGYDDYNG
YNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSTFQSTTGHCVHMRGLPYRATENDIYNFFSPLNPVRVHIEIGPDGRVTGEADVEFATH
EDAVAAMSKDKANMQHRYVELFLNSTAGASGGAYEHRYVELFLNSTAGASGGAYGSQMMGGMGLSNQSSYGGPASQQLSGGYGGGYGGQS

--------------------------------------------------------------
>18093_18093_6_COL18A1-HNRNPH1_COL18A1_chr21_46888700_ENST00000400337_HNRNPH1_chr5_179048398_ENST00000510411_length(transcript)=2717nt_BP=745nt
CTCCCAGCGGCGGCGGCTGCAGCGCGGCGGTCCGAGCGGGTGCACCGCGGCGGAGGAGGCAGCATCCCGCGGCGCTGACGGTCCTGGGGA
GAGCATGGCGCCGAGGTGCCCCTGGCCATGGCCGCGGCGGCGGCGCCTCCTGGACGTGCTCGCGCCCCTGGTCCTGCTGCTCGGGGTCCG
CGCGGCCTCCGCGGAGCCAGAGCGCATCAGCGAGGAGGTGGGGCTGCTGCAGCTCCTTGGGGACCCCCCGCCCCAGCAGGTCACCCAGAC
GGATGACCCCGACGTCGGGCTGGCCTACGTCTTTGGGCCAGATGCCAACAGTGGCCAAGTGGCCCGGTACCACTTCCCCAGCCTCTTCTT
CCGTGACTTCTCACTGCTGTTCCACATCCGGCCAGCCACAGAGGGCCCAGGGGTGCTGTTCGCCATCACGGACTCGGCGCAGGCCATGGT
CTTGCTGGGCGTGAAGCTCTCTGGGGTGCAGGACGGGCACCAGGACATCTCCCTGCTCTACACAGAACCAGGTGCAGGCCAGACCCACAC
AGCCGCCAGCTTCCGGCTCCCCGCCTTCGTCGGCCAGTGGACACACTTAGCCCTCAGTGTGGCAGGTGGCTTTGTGGCCCTCTACGTGGA
CTGTGAGGAGTTCCAGAGAATGCCGCTTGCTCGGTCCTCACGGGGCCTGGAGCTGGAGCCTGGCGCCGGGCTCTTCGTGGCTCAGGCGGG
GGGAGCGGACCCTGACAAGTTCCAGACTGCAAAATTCAAAATGGGGCTCAAGGTATTCGTTTCATCTACACCAGAGAAGGCAGACCAAGT
GGCGAGGCTTTTGTTGAACTTGAATCAGAAGATGAAGTCAAATTGGCCCTGAAAAAAGACAGAGAAACTATGGGACACAGATATGTTGAA
GTATTCAAGTCAAACAACGTTGAAATGGATTGGGTGTTGAAGCATACTGGTCCAAATAGTCCTGACACGGCCAATGATGGCTTTGTACGG
CTTAGAGGACTTCCCTTTGGATGTAGCAAGGAAGAAATTGTTCAGTTCTTCTCAGGGTTGGAAATCGTGCCAAATGGGATAACATTGCCG
GTGGACTTCCAGGGGAGGAGTACGGGGGAGGCCTTCGTGCAGTTTGCTTCACAGGAAATAGCTGAAAAGGCTCTAAAGAAACACAAGGAA
AGAATAGGGCACAGGTATATTGAAATCTTTAAGAGCAGTAGAGCTGAAGTTAGAACTCATTATGATCCACCACGAAAGCTTATGGCCATG
CAGCGGCCAGGTCCTTATGACAGACCTGGGGCTGGTAGAGGGTATAACAGCATTGGCAGAGGAGCTGGCTTTGAGAGGATGAGGCGTGGT
GCTTATGGTGGAGGCTATGGAGGCTATGATGATTACAATGGCTATAATGATGGCTATGGATTTGGGTCAGATAGATTTGGAAGAGACCTC
AATTACTGTTTTTCAGGAATGTCTGATCACAGATACGGGGATGGTGGCTCTACTTTCCAGAGCACAACAGGACACTGTGTACACATGCGG
GGATTACCTTACAGAGCTACTGAGAATGACATTTATAATTTTTTTTCACCGCTCAACCCTGTGAGAGTACACATTGAAATTGGTCCTGAT
GGCAGAGTAACTGGTGAAGCAGATGTCGAGTTCGCAACTCATGAAGATGCTGTGGCAGCTATGTCAAAAGACAAAGCAAATATGCAACAC
AGATATGTAGAACTCTTCTTGAATTCTACAGCAGGAGCAAGCGGTGGTGCTTACGGTAGCCAAATGCTAGGAGGCATGGGTTTGTCAAAC
CAGTCCAGCTACGGGGGCCCAGCCAGCCAGCAGCTGAGTGGGGGTTACGGAGGCGGCTACGGTGGCCAGAGCAGCATGAGTGGATACGAC
CAAGTTTTACAGGAAAACTCCAGTGATTTTCAATCAAACATTGCATAGGTAACCAAGGAGCAGTGAACAGCAGCTACTACAGTAGTGGAA
GCCGTGCATCTATGGGCGTGAACGGAATGGGAGGGTTGTCTAGCATGTCCAGTATGAGTGGTGGATGGGGAATGTAATTGATCGATCCTG
ATCACTGACTCTTGGTCAACCTTTTTTTTTTTTTTTTTTTTTTCTTTAAGAAAACTTCAGTTTAACAGTTTCTGCAATACAAGCTTGTGA
TTTATGCTTACTCTAAGTGGAAATCAGGATTGTTATGAAGACTTAAGGCCCAGTATTTTTGAATACAATACTCATCTAGGATGTAACAGT
GAAGCTGAGTAAACTATAACTGTTAAACTTAAGTTCCAGCTTTTCTCAAGTTAGTTATAGGATGTACTTAAGCAGTAAGCGTATTTAGGT
AAAAGCAGTTGAATTATGTTAAATGTTGCCCTTTGCCACGTTAAATTGAACACTGTTTTGGATGCATGTTGAAAGACATGCTTTTATTTT
TTTGTAAAACAATATAGGAGCTGTGTCTACTATTAAAAGTGAAACATTTTGGCATGTTTGTTAATTCTAGTTTCATTTAATAACCTGTAA
GGCACGTAAGTTTAAGCTTTTTTTTTTTTTAAGTTAATGGGAAAAATTTGAGACGCAATACCAATACTTAGGATTTTGGTCTTGGTGTTT
GTATGAAATTCTGAGGCCTTGATTTAAATCTTTCATTGTATTGTGATTTCCTTTTAGGTATATTGCGCTAAGTGAAACTTGTCAAATAAA

>18093_18093_6_COL18A1-HNRNPH1_COL18A1_chr21_46888700_ENST00000400337_HNRNPH1_chr5_179048398_ENST00000510411_length(amino acids)=361AA_BP=
MALKKDRETMGHRYVEVFKSNNVEMDWVLKHTGPNSPDTANDGFVRLRGLPFGCSKEEIVQFFSGLEIVPNGITLPVDFQGRSTGEAFVQ
FASQEIAEKALKKHKERIGHRYIEIFKSSRAEVRTHYDPPRKLMAMQRPGPYDRPGAGRGYNSIGRGAGFERMRRGAYGGGYGGYDDYNG
YNDGYGFGSDRFGRDLNYCFSGMSDHRYGDGGSTFQSTTGHCVHMRGLPYRATENDIYNFFSPLNPVRVHIEIGPDGRVTGEADVEFATH
EDAVAAMSKDKANMQHRYVELFLNSTAGASGGAYGSQMLGGMGLSNQSSYGGPASQQLSGGYGGGYGGQSSMSGYDQVLQENSSDFQSNI

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

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Fusion Gene PPI Analysis for COL18A1-HNRNPH1


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 COL18A1-HNRNPH1


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 COL18A1-HNRNPH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL18A1C4551775Knobloch Syndrome, Type I3CTD_human;GENOMICS_ENGLAND
HgeneCOL18A1C1849409Knobloch syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCOL18A1C0006663Calcinosis1CTD_human
HgeneCOL18A1C0018824Heart valve disease1CTD_human
HgeneCOL18A1C0018923Hemangiosarcoma1CTD_human
HgeneCOL18A1C0020796Profound Mental Retardation1CTD_human
HgeneCOL18A1C0025363Mental Retardation, Psychosocial1CTD_human
HgeneCOL18A1C0263628Tumoral calcinosis1CTD_human
HgeneCOL18A1C0521174Microcalcification1CTD_human
HgeneCOL18A1C0917816Mental deficiency1CTD_human
HgeneCOL18A1C3714756Intellectual Disability1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1ORPHANET