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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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Fusion gene ID: 38773

FusionGeneSummary for TMPRSS6_EME1

check button Fusion gene summary
Fusion gene informationFusion gene name: TMPRSS6_EME1
Fusion gene ID: 38773
HgeneTgene
Gene symbol

TMPRSS6

EME1

Gene ID

164656

146956

Gene nametransmembrane serine protease 6essential meiotic structure-specific endonuclease 1
SynonymsIRIDAMMS4L|SLX2A
Cytomap

22q12.3

17q21.33

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protease serine 6matriptase-2membrane-bound mosaic serine proteinase matriptase-2transmembrane protease, serine 6type II transmembrane serine protease 6crossover junction endonuclease EME1MMS4 homologSLX2 structure-specific endonuclease subunit homolog Aessential meiotic endonuclease 1 homolog 1essential meiotic endonuclease 1 homolog 2hMMS4homolog of yeast EME1 endonuclease
Modification date2018052320180523
UniProtAcc

Q8IU80

Q96AY2

Ensembl transtripts involved in fusion geneENST00000381792, ENST00000346753, 
ENST00000406725, ENST00000406856, 
ENST00000442782, 		ENST00000393271, 
ENST00000338165, ENST00000511648, 
Fusion gene scores* DoF score3 X 3 X 2=182 X 2 X 1=4
# samples 42
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/4*10)=2.32192809488736
Context

PubMed: TMPRSS6 [Title/Abstract] AND EME1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneTMPRSS6

GO:0006508

proteolysis

12149247

HgeneTMPRSS6

GO:0042730

fibrinolysis

12149247


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
TCGALDBRCATCGA-C8-A132-01ATMPRSS6chr22

37485618

-EME1chr17

48455956

+
* 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-frameENST00000381792ENST00000393271TMPRSS6chr22

37485618

-EME1chr17

48455956

+
In-frameENST00000381792ENST00000338165TMPRSS6chr22

37485618

-EME1chr17

48455956

+
In-frameENST00000381792ENST00000511648TMPRSS6chr22

37485618

-EME1chr17

48455956

+
Frame-shiftENST00000346753ENST00000393271TMPRSS6chr22

37485618

-EME1chr17

48455956

+
Frame-shiftENST00000346753ENST00000338165TMPRSS6chr22

37485618

-EME1chr17

48455956

+
Frame-shiftENST00000346753ENST00000511648TMPRSS6chr22

37485618

-EME1chr17

48455956

+
Frame-shiftENST00000406725ENST00000393271TMPRSS6chr22

37485618

-EME1chr17

48455956

+
Frame-shiftENST00000406725ENST00000338165TMPRSS6chr22

37485618

-EME1chr17

48455956

+
Frame-shiftENST00000406725ENST00000511648TMPRSS6chr22

37485618

-EME1chr17

48455956

+
Frame-shiftENST00000406856ENST00000393271TMPRSS6chr22

37485618

-EME1chr17

48455956

+
Frame-shiftENST00000406856ENST00000338165TMPRSS6chr22

37485618

-EME1chr17

48455956

+
Frame-shiftENST00000406856ENST00000511648TMPRSS6chr22

37485618

-EME1chr17

48455956

+
Frame-shiftENST00000442782ENST00000393271TMPRSS6chr22

37485618

-EME1chr17

48455956

+
Frame-shiftENST00000442782ENST00000338165TMPRSS6chr22

37485618

-EME1chr17

48455956

+
Frame-shiftENST00000442782ENST00000511648TMPRSS6chr22

37485618

-EME1chr17

48455956

+

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FusionProtFeatures for TMPRSS6_EME1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMPRSS6

Q8IU80

EME1

Q96AY2

Interacts with MUS81 to form a DNA structure-specificendonuclease with substrate preference for branched DNA structureswith a 5'-end at the branch nick. Typical substrates include 3'-flap structures, replication forks and nicked Holliday junctions.May be required in mitosis for the processing of stalled orcollapsed replication forks. {ECO:0000269|PubMed:12686547,ECO:0000269|PubMed:12721304, ECO:0000269|PubMed:14617801,ECO:0000269|PubMed:17289582}.

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
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000346753-71884_209287812DomainSEA
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000381792-71984_209278825DomainSEA
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406725-71884_209278803DomainSEA
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406856-71984_209278825DomainSEA
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000346753-7181_55287812Topological domainCytoplasmic
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000381792-7191_55278825Topological domainCytoplasmic
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406725-7181_55278803Topological domainCytoplasmic
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406856-7191_55278825Topological domainCytoplasmic
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000346753-71856_76287812TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000381792-71956_76278825TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406725-71856_76278803TransmembraneHelical%3B Signal-anchor for type II membrane protein
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406856-71956_76278825TransmembraneHelical%3B Signal-anchor for type II membrane protein

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000346753-718213_336287812DomainCUB 1
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000346753-718335_452287812DomainCUB 2
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000346753-718457_489287812DomainLDL-receptor class A 1
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000346753-718490_526287812DomainLDL-receptor class A 2
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000346753-718530_567287812DomainLDL-receptor class A 3
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000346753-718577_811287812DomainPeptidase S1
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000381792-719213_336278825DomainCUB 1
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000381792-719335_452278825DomainCUB 2
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000381792-719457_489278825DomainLDL-receptor class A 1
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000381792-719490_526278825DomainLDL-receptor class A 2
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000381792-719530_567278825DomainLDL-receptor class A 3
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000381792-719577_811278825DomainPeptidase S1
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406725-718213_336278803DomainCUB 1
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406725-718335_452278803DomainCUB 2
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406725-718457_489278803DomainLDL-receptor class A 1
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406725-718490_526278803DomainLDL-receptor class A 2
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406725-718530_567278803DomainLDL-receptor class A 3
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406725-718577_811278803DomainPeptidase S1
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406856-719213_336278825DomainCUB 1
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406856-719335_452278825DomainCUB 2
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406856-719457_489278825DomainLDL-receptor class A 1
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406856-719490_526278825DomainLDL-receptor class A 2
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406856-719530_567278825DomainLDL-receptor class A 3
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406856-719577_811278825DomainPeptidase S1
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000346753-71877_811287812Topological domainExtracellular
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000381792-71977_811278825Topological domainExtracellular
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406725-71877_811278803Topological domainExtracellular
HgeneTMPRSS6chr22:37485618chr17:48455956ENST00000406856-71977_811278825Topological domainExtracellular


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FusionGeneSequence for TMPRSS6_EME1


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_TMPRSS6_ENST00000381792_chr22_37485618_-_EME1_ENST00000393271_chr17_48455956_+_561aa
MPVAEAPQVAGGQGDGGDGEEAEPEGMFKACEDSKRKARGYLRLVPLFVLLALLVLASAGVLLWYFLGYKAEVMVSQVYSGSLRVLNRHF
SQDLTRRESSAFRSETAKAQKMLKELITSTRLGTYYNSSSVYSFGEGPLTCFFWFILQIPEHRRLMLSPEVVQALLVEELLSTVNSSAAV
PYRAEYEVDPEGLVILEASVKDIAALNSTLGCYRYSYVGQGQVLRLKGPDHLASSCLWHLQGPKDLMLKLRLEWTLAECRDRLAMYDVAG
PLEKRLITSTERTGWRSQQYWCCSGQRHLCPXSTMESREAWTALXKGRKRFRALXLTSQQRQQGKLCHWXLWIRRNASAWSCCSLISSPA
PVLRILQEEGNREQINRPRSSSRDNQRPAXGPWYPGXTLKRHWWICSYTQKPRLKLCRAGKSWPTSHAHSQRLWLRRPSRSSEMKLPSPS
VWRVTGLEGXRWTLLAGDSHXSGGDRFSSXTESAWKWPVQLXMPIPPHSSWYRLISSVFRIKNARICSQTYRCAVGKVXHPLLAALDQNY

>In-frame_TMPRSS6_ENST00000381792_chr22_37485618_-_EME1_ENST00000338165_chr17_48455956_+_548aa
MPVAEAPQVAGGQGDGGDGEEAEPEGMFKACEDSKRKARGYLRLVPLFVLLALLVLASAGVLLWYFLGYKAEVMVSQVYSGSLRVLNRHF
SQDLTRRESSAFRSETAKAQKMLKELITSTRLGTYYNSSSVYSFGEGPLTCFFWFILQIPEHRRLMLSPEVVQALLVEELLSTVNSSAAV
PYRAEYEVDPEGLVILEASVKDIAALNSTLGCYRYSYVGQGQVLRLKGPDHLASSCLWHLQGPKDLMLKLRLEWTLAECRDRLAMYDVAG
PLEKRLITSTERTGWRSQQYWCCSGQRHLCPXSTMESREAWTALXKGRKRFRALXLTSQQRQQGKLCHWXLWIRRNASVLRILQEEGNRE
QINRPRSSSRDNQRPAXGPWYPGXTLKRHWWICSYTQKPRLKLCRAGKSWPTSHAHSQRLWLRRPSRSSEMKLPSPSVWRVTGLEGXRWT
LLAGDSHXSGGDRFSSXTESAWKWPVQLXMPIPPHSSWYRLISSVFRIKNARICSQTYRCAVGKVXHPLLAALDQNYPGVSTFRXPLYSH

>In-frame_TMPRSS6_ENST00000381792_chr22_37485618_-_EME1_ENST00000511648_chr17_48455956_+_561aa
MPVAEAPQVAGGQGDGGDGEEAEPEGMFKACEDSKRKARGYLRLVPLFVLLALLVLASAGVLLWYFLGYKAEVMVSQVYSGSLRVLNRHF
SQDLTRRESSAFRSETAKAQKMLKELITSTRLGTYYNSSSVYSFGEGPLTCFFWFILQIPEHRRLMLSPEVVQALLVEELLSTVNSSAAV
PYRAEYEVDPEGLVILEASVKDIAALNSTLGCYRYSYVGQGQVLRLKGPDHLASSCLWHLQGPKDLMLKLRLEWTLAECRDRLAMYDVAG
PLEKRLITSTERTGWRSQQYWCCSGQRHLCPXSTMESREAWTALXKGRKRFRALXLTSQQRQQGKLCHWXLWIRRNASAWSCCSLISSPA
PVLRILQEEGNREQINRPRSSSRDNQRPAXGPWYPGXTLKRHWWICSYTQKPRLKLCRAGKSWPTSHAHSQRLWLRRPSRSSEMKLPSPS
VWRVTGLEGXRWTLLAGDSHXSGGDRFSSXTESAWKWPVQLXMPIPPHSSWYRLISSVFRIKNARICSQTYRCAVGKVXHPLLAALDQNY


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_TMPRSS6_ENST00000381792_chr22_37485618_-_EME1_ENST00000393271_chr17_48455956_+_1685nt
ATGCCCGTGGCCGAGGCCCCCCAGGTGGCTGGCGGGCAGGGGGACGGAGGTGATGGCGAGGAAGCGGAGCCGGAGGGGATGTTCAAGGCC
TGTGAGGACTCCAAGAGAAAAGCCCGGGGCTACCTCCGCCTGGTGCCCCTGTTTGTGCTGCTGGCCCTGCTCGTGCTGGCTTCGGCGGGG
GTGCTACTCTGGTATTTCCTAGGGTACAAGGCGGAGGTGATGGTCAGCCAGGTGTACTCAGGCAGTCTGCGTGTACTCAATCGCCACTTC
TCCCAGGATCTTACCCGCCGGGAATCTAGTGCCTTCCGCAGTGAAACCGCCAAAGCCCAGAAGATGCTCAAGGAGCTCATCACCAGCACC
CGCCTGGGAACTTACTACAACTCCAGCTCCGTCTATTCCTTTGGGGAGGGACCCCTCACCTGCTTCTTCTGGTTCATTCTCCAAATCCCC
GAGCACCGCCGGCTGATGCTGAGCCCCGAGGTGGTGCAGGCACTGCTGGTGGAGGAGCTGCTGTCCACAGTCAACAGCTCGGCTGCCGTC
CCCTACAGGGCCGAGTACGAAGTGGACCCCGAGGGCCTAGTGATCCTGGAAGCCAGTGTGAAAGACATAGCTGCATTGAATTCCACGCTG
GGTTGTTACCGCTACAGCTACGTGGGCCAGGGCCAGGTCCTCCGGCTGAAGGGGCCTGACCACCTGGCCTCCAGCTGCCTGTGGCACCTG
CAGGGCCCCAAGGACCTCATGCTCAAACTCCGGCTGGAGTGGACGCTGGCAGAGTGCCGGGACCGACTGGCCATGTATGACGTGGCCGGG
CCCCTGGAGAAGAGGCTCATCACCTCGACAGAGAGGACTGGGTGGAGGAGCCAACAGTACTGGTGTTGCTCCGGGCAGAGGCATTTGTGT
CCATGATCGACAATGGAAAGCAGGGAAGCCTGGACAGCACTATGAAAGGGAAGGAAACGCTTCAGGGCTTTGTAACTGACATCACAGCAA
AGACAGCAGGGAAAGCTCTGTCACTGGTGATTGTGGATCAGGAGAAATGCTTCAGCCTGGAGCTGCTGTTCTTTGATTTCCTCCCCTGCA
CCAGTGCTCAGAATCCTCCAAGAAGAGGGAAACAGGGAGCAAATAAACAGACCAAGAAGCAGCAGCAGAGACAACCAGAGGCCAGCATAG
GGTCCATGGTATCCAGGGTAGACGCTGAAGAGGCATTGGTGGATCTGCAGCTACACACAGAAGCCCAGGCTCAAATTGTGCAGAGCTGGA
AAGAGCTGGCCGACTTCACATGCGCATTCACAAAGGCTGTGGCTGAGGCGCCCTTCAAGAAGCTCCGAGATGAAACTACCTTCTCCTTCT
GTCTGGAGAGTGACTGGGCTGGAGGGGTGAAGGTGGACCTTGCTGGCAGGGGACTCGCACTAGTCTGGAGGAGACAGATTCAGCAGCTGA
ACCGAGTCAGCCTGGAAATGGCCAGTGCAGTTGTGAATGCCTATCCCTCCCCACAGCTCCTGGTACAGGCTTATCAGCAGTGTTTTTCGG
ATAAAGAACGCCAGAATTTGCTCGCAGACATACAGGTGCGCCGTGGGGAAGGTGTGACATCCACTTCTCGCCGCATTGGACCAGAACTAT

>In-frame_TMPRSS6_ENST00000381792_chr22_37485618_-_EME1_ENST00000338165_chr17_48455956_+_1646nt
ATGCCCGTGGCCGAGGCCCCCCAGGTGGCTGGCGGGCAGGGGGACGGAGGTGATGGCGAGGAAGCGGAGCCGGAGGGGATGTTCAAGGCC
TGTGAGGACTCCAAGAGAAAAGCCCGGGGCTACCTCCGCCTGGTGCCCCTGTTTGTGCTGCTGGCCCTGCTCGTGCTGGCTTCGGCGGGG
GTGCTACTCTGGTATTTCCTAGGGTACAAGGCGGAGGTGATGGTCAGCCAGGTGTACTCAGGCAGTCTGCGTGTACTCAATCGCCACTTC
TCCCAGGATCTTACCCGCCGGGAATCTAGTGCCTTCCGCAGTGAAACCGCCAAAGCCCAGAAGATGCTCAAGGAGCTCATCACCAGCACC
CGCCTGGGAACTTACTACAACTCCAGCTCCGTCTATTCCTTTGGGGAGGGACCCCTCACCTGCTTCTTCTGGTTCATTCTCCAAATCCCC
GAGCACCGCCGGCTGATGCTGAGCCCCGAGGTGGTGCAGGCACTGCTGGTGGAGGAGCTGCTGTCCACAGTCAACAGCTCGGCTGCCGTC
CCCTACAGGGCCGAGTACGAAGTGGACCCCGAGGGCCTAGTGATCCTGGAAGCCAGTGTGAAAGACATAGCTGCATTGAATTCCACGCTG
GGTTGTTACCGCTACAGCTACGTGGGCCAGGGCCAGGTCCTCCGGCTGAAGGGGCCTGACCACCTGGCCTCCAGCTGCCTGTGGCACCTG
CAGGGCCCCAAGGACCTCATGCTCAAACTCCGGCTGGAGTGGACGCTGGCAGAGTGCCGGGACCGACTGGCCATGTATGACGTGGCCGGG
CCCCTGGAGAAGAGGCTCATCACCTCGACAGAGAGGACTGGGTGGAGGAGCCAACAGTACTGGTGTTGCTCCGGGCAGAGGCATTTGTGT
CCATGATCGACAATGGAAAGCAGGGAAGCCTGGACAGCACTATGAAAGGGAAGGAAACGCTTCAGGGCTTTGTAACTGACATCACAGCAA
AGACAGCAGGGAAAGCTCTGTCACTGGTGATTGTGGATCAGGAGAAATGCTTCAGTGCTCAGAATCCTCCAAGAAGAGGGAAACAGGGAG
CAAATAAACAGACCAAGAAGCAGCAGCAGAGACAACCAGAGGCCAGCATAGGGTCCATGGTATCCAGGGTAGACGCTGAAGAGGCATTGG
TGGATCTGCAGCTACACACAGAAGCCCAGGCTCAAATTGTGCAGAGCTGGAAAGAGCTGGCCGACTTCACATGCGCATTCACAAAGGCTG
TGGCTGAGGCGCCCTTCAAGAAGCTCCGAGATGAAACTACCTTCTCCTTCTGTCTGGAGAGTGACTGGGCTGGAGGGGTGAAGGTGGACC
TTGCTGGCAGGGGACTCGCACTAGTCTGGAGGAGACAGATTCAGCAGCTGAACCGAGTCAGCCTGGAAATGGCCAGTGCAGTTGTGAATG
CCTATCCCTCCCCACAGCTCCTGGTACAGGCTTATCAGCAGTGTTTTTCGGATAAAGAACGCCAGAATTTGCTCGCAGACATACAGGTGC
GCCGTGGGGAAGGTGTGACATCCACTTCTCGCCGCATTGGACCAGAACTATCCAGGCGTATCTACCTTCAGATGACCACTTTACAGCCAC

>In-frame_TMPRSS6_ENST00000381792_chr22_37485618_-_EME1_ENST00000511648_chr17_48455956_+_1685nt
ATGCCCGTGGCCGAGGCCCCCCAGGTGGCTGGCGGGCAGGGGGACGGAGGTGATGGCGAGGAAGCGGAGCCGGAGGGGATGTTCAAGGCC
TGTGAGGACTCCAAGAGAAAAGCCCGGGGCTACCTCCGCCTGGTGCCCCTGTTTGTGCTGCTGGCCCTGCTCGTGCTGGCTTCGGCGGGG
GTGCTACTCTGGTATTTCCTAGGGTACAAGGCGGAGGTGATGGTCAGCCAGGTGTACTCAGGCAGTCTGCGTGTACTCAATCGCCACTTC
TCCCAGGATCTTACCCGCCGGGAATCTAGTGCCTTCCGCAGTGAAACCGCCAAAGCCCAGAAGATGCTCAAGGAGCTCATCACCAGCACC
CGCCTGGGAACTTACTACAACTCCAGCTCCGTCTATTCCTTTGGGGAGGGACCCCTCACCTGCTTCTTCTGGTTCATTCTCCAAATCCCC
GAGCACCGCCGGCTGATGCTGAGCCCCGAGGTGGTGCAGGCACTGCTGGTGGAGGAGCTGCTGTCCACAGTCAACAGCTCGGCTGCCGTC
CCCTACAGGGCCGAGTACGAAGTGGACCCCGAGGGCCTAGTGATCCTGGAAGCCAGTGTGAAAGACATAGCTGCATTGAATTCCACGCTG
GGTTGTTACCGCTACAGCTACGTGGGCCAGGGCCAGGTCCTCCGGCTGAAGGGGCCTGACCACCTGGCCTCCAGCTGCCTGTGGCACCTG
CAGGGCCCCAAGGACCTCATGCTCAAACTCCGGCTGGAGTGGACGCTGGCAGAGTGCCGGGACCGACTGGCCATGTATGACGTGGCCGGG
CCCCTGGAGAAGAGGCTCATCACCTCGACAGAGAGGACTGGGTGGAGGAGCCAACAGTACTGGTGTTGCTCCGGGCAGAGGCATTTGTGT
CCATGATCGACAATGGAAAGCAGGGAAGCCTGGACAGCACTATGAAAGGGAAGGAAACGCTTCAGGGCTTTGTAACTGACATCACAGCAA
AGACAGCAGGGAAAGCTCTGTCACTGGTGATTGTGGATCAGGAGAAATGCTTCAGCCTGGAGCTGCTGTTCTTTGATTTCCTCCCCTGCA
CCAGTGCTCAGAATCCTCCAAGAAGAGGGAAACAGGGAGCAAATAAACAGACCAAGAAGCAGCAGCAGAGACAACCAGAGGCCAGCATAG
GGTCCATGGTATCCAGGGTAGACGCTGAAGAGGCATTGGTGGATCTGCAGCTACACACAGAAGCCCAGGCTCAAATTGTGCAGAGCTGGA
AAGAGCTGGCCGACTTCACATGCGCATTCACAAAGGCTGTGGCTGAGGCGCCCTTCAAGAAGCTCCGAGATGAAACTACCTTCTCCTTCT
GTCTGGAGAGTGACTGGGCTGGAGGGGTGAAGGTGGACCTTGCTGGCAGGGGACTCGCACTAGTCTGGAGGAGACAGATTCAGCAGCTGA
ACCGAGTCAGCCTGGAAATGGCCAGTGCAGTTGTGAATGCCTATCCCTCCCCACAGCTCCTGGTACAGGCTTATCAGCAGTGTTTTTCGG
ATAAAGAACGCCAGAATTTGCTCGCAGACATACAGGTGCGCCGTGGGGAAGGTGTGACATCCACTTCTCGCCGCATTGGACCAGAACTAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_TMPRSS6_ENST00000381792_chr22_37485618_-_EME1_ENST00000393271_chr17_48455956_+_2346nt
CTTGAGCCAGACCCAGTCCAGCTCTGGTGCCTGCCCTCTGGTGCGAGCTGACCTGAGATGCACTTCCCTCCTCTGTGAGCTGTCTCGGCA
CCCACTTGCAGTCACTGCCGCCTGATGTTGTTACTCTTCCACTCCAAAAGGATGCCCGTGGCCGAGGCCCCCCAGGTGGCTGGCGGGCAG
GGGGACGGAGGTGATGGCGAGGAAGCGGAGCCGGAGGGGATGTTCAAGGCCTGTGAGGACTCCAAGAGAAAAGCCCGGGGCTACCTCCGC
CTGGTGCCCCTGTTTGTGCTGCTGGCCCTGCTCGTGCTGGCTTCGGCGGGGGTGCTACTCTGGTATTTCCTAGGGTACAAGGCGGAGGTG
ATGGTCAGCCAGGTGTACTCAGGCAGTCTGCGTGTACTCAATCGCCACTTCTCCCAGGATCTTACCCGCCGGGAATCTAGTGCCTTCCGC
AGTGAAACCGCCAAAGCCCAGAAGATGCTCAAGGAGCTCATCACCAGCACCCGCCTGGGAACTTACTACAACTCCAGCTCCGTCTATTCC
TTTGGGGAGGGACCCCTCACCTGCTTCTTCTGGTTCATTCTCCAAATCCCCGAGCACCGCCGGCTGATGCTGAGCCCCGAGGTGGTGCAG
GCACTGCTGGTGGAGGAGCTGCTGTCCACAGTCAACAGCTCGGCTGCCGTCCCCTACAGGGCCGAGTACGAAGTGGACCCCGAGGGCCTA
GTGATCCTGGAAGCCAGTGTGAAAGACATAGCTGCATTGAATTCCACGCTGGGTTGTTACCGCTACAGCTACGTGGGCCAGGGCCAGGTC
CTCCGGCTGAAGGGGCCTGACCACCTGGCCTCCAGCTGCCTGTGGCACCTGCAGGGCCCCAAGGACCTCATGCTCAAACTCCGGCTGGAG
TGGACGCTGGCAGAGTGCCGGGACCGACTGGCCATGTATGACGTGGCCGGGCCCCTGGAGAAGAGGCTCATCACCTCGACAGAGAGGACT
GGGTGGAGGAGCCAACAGTACTGGTGTTGCTCCGGGCAGAGGCATTTGTGTCCATGATCGACAATGGAAAGCAGGGAAGCCTGGACAGCA
CTATGAAAGGGAAGGAAACGCTTCAGGGCTTTGTAACTGACATCACAGCAAAGACAGCAGGGAAAGCTCTGTCACTGGTGATTGTGGATC
AGGAGAAATGCTTCAGCCTGGAGCTGCTGTTCTTTGATTTCCTCCCCTGCACCAGTGCTCAGAATCCTCCAAGAAGAGGGAAACAGGGAG
CAAATAAACAGACCAAGAAGCAGCAGCAGAGACAACCAGAGGCCAGCATAGGGTCCATGGTATCCAGGGTAGACGCTGAAGAGGCATTGG
TGGATCTGCAGCTACACACAGAAGCCCAGGCTCAAATTGTGCAGAGCTGGAAAGAGCTGGCCGACTTCACATGCGCATTCACAAAGGCTG
TGGCTGAGGCGCCCTTCAAGAAGCTCCGAGATGAAACTACCTTCTCCTTCTGTCTGGAGAGTGACTGGGCTGGAGGGGTGAAGGTGGACC
TTGCTGGCAGGGGACTCGCACTAGTCTGGAGGAGACAGATTCAGCAGCTGAACCGAGTCAGCCTGGAAATGGCCAGTGCAGTTGTGAATG
CCTATCCCTCCCCACAGCTCCTGGTACAGGCTTATCAGCAGTGTTTTTCGGATAAAGAACGCCAGAATTTGCTCGCAGACATACAGGTGC
GCCGTGGGGAAGGTGTGACATCCACTTCTCGCCGCATTGGACCAGAACTATCCAGGCGTATCTACCTTCAGATGACCACTTTACAGCCAC
ATCTCTCTTTAGATAGTGCTGACTGATTCTAGCCCTCAGGGATGAGGATGAAAAGCTGGAAACTTCCACTTCCCCAACCTCAGAGCCTGA
CTGTAATGAAGAGACTGGCAGCACCTCCTGGAACACAAGCCTAGGTGAGGCCCAGTCTTTCTTGGGTCTTATTATTTGTGAAGGTCTCTC
TGCCTGTCGGCTGGGGCAGAGACTGAAATACTGCCACCTACCTTTGGCATTTAATGTTCCTCTCCTGGCAAAAATTCACTGCCACAGACA
AACCACCCCCACTCCTACCCAGCCAGCCCTCAAAACACAAAGGAACAAAGACAGTCCACTCAGACACTTATTTAATAACTGTAGAAATCC
AAAAGAATTAGCATCAAATCTTGAAGTCGTGAGTGAAGCTGCGGGTTGGCTTGACTGGGCTCAGCCACTGAGCTGCCTCAACCGGCCAAG
GAACGGGATTATGATGACTATGCGGACTTCTATATTGTCTTCATCTCATTGTGTGTATTATGTATTTAGTTTCAATAAAGCATTTGTACC

>In-frame_TMPRSS6_ENST00000381792_chr22_37485618_-_EME1_ENST00000338165_chr17_48455956_+_2331nt
CTTGAGCCAGACCCAGTCCAGCTCTGGTGCCTGCCCTCTGGTGCGAGCTGACCTGAGATGCACTTCCCTCCTCTGTGAGCTGTCTCGGCA
CCCACTTGCAGTCACTGCCGCCTGATGTTGTTACTCTTCCACTCCAAAAGGATGCCCGTGGCCGAGGCCCCCCAGGTGGCTGGCGGGCAG
GGGGACGGAGGTGATGGCGAGGAAGCGGAGCCGGAGGGGATGTTCAAGGCCTGTGAGGACTCCAAGAGAAAAGCCCGGGGCTACCTCCGC
CTGGTGCCCCTGTTTGTGCTGCTGGCCCTGCTCGTGCTGGCTTCGGCGGGGGTGCTACTCTGGTATTTCCTAGGGTACAAGGCGGAGGTG
ATGGTCAGCCAGGTGTACTCAGGCAGTCTGCGTGTACTCAATCGCCACTTCTCCCAGGATCTTACCCGCCGGGAATCTAGTGCCTTCCGC
AGTGAAACCGCCAAAGCCCAGAAGATGCTCAAGGAGCTCATCACCAGCACCCGCCTGGGAACTTACTACAACTCCAGCTCCGTCTATTCC
TTTGGGGAGGGACCCCTCACCTGCTTCTTCTGGTTCATTCTCCAAATCCCCGAGCACCGCCGGCTGATGCTGAGCCCCGAGGTGGTGCAG
GCACTGCTGGTGGAGGAGCTGCTGTCCACAGTCAACAGCTCGGCTGCCGTCCCCTACAGGGCCGAGTACGAAGTGGACCCCGAGGGCCTA
GTGATCCTGGAAGCCAGTGTGAAAGACATAGCTGCATTGAATTCCACGCTGGGTTGTTACCGCTACAGCTACGTGGGCCAGGGCCAGGTC
CTCCGGCTGAAGGGGCCTGACCACCTGGCCTCCAGCTGCCTGTGGCACCTGCAGGGCCCCAAGGACCTCATGCTCAAACTCCGGCTGGAG
TGGACGCTGGCAGAGTGCCGGGACCGACTGGCCATGTATGACGTGGCCGGGCCCCTGGAGAAGAGGCTCATCACCTCGACAGAGAGGACT
GGGTGGAGGAGCCAACAGTACTGGTGTTGCTCCGGGCAGAGGCATTTGTGTCCATGATCGACAATGGAAAGCAGGGAAGCCTGGACAGCA
CTATGAAAGGGAAGGAAACGCTTCAGGGCTTTGTAACTGACATCACAGCAAAGACAGCAGGGAAAGCTCTGTCACTGGTGATTGTGGATC
AGGAGAAATGCTTCAGTGCTCAGAATCCTCCAAGAAGAGGGAAACAGGGAGCAAATAAACAGACCAAGAAGCAGCAGCAGAGACAACCAG
AGGCCAGCATAGGGTCCATGGTATCCAGGGTAGACGCTGAAGAGGCATTGGTGGATCTGCAGCTACACACAGAAGCCCAGGCTCAAATTG
TGCAGAGCTGGAAAGAGCTGGCCGACTTCACATGCGCATTCACAAAGGCTGTGGCTGAGGCGCCCTTCAAGAAGCTCCGAGATGAAACTA
CCTTCTCCTTCTGTCTGGAGAGTGACTGGGCTGGAGGGGTGAAGGTGGACCTTGCTGGCAGGGGACTCGCACTAGTCTGGAGGAGACAGA
TTCAGCAGCTGAACCGAGTCAGCCTGGAAATGGCCAGTGCAGTTGTGAATGCCTATCCCTCCCCACAGCTCCTGGTACAGGCTTATCAGC
AGTGTTTTTCGGATAAAGAACGCCAGAATTTGCTCGCAGACATACAGGTGCGCCGTGGGGAAGGTGTGACATCCACTTCTCGCCGCATTG
GACCAGAACTATCCAGGCGTATCTACCTTCAGATGACCACTTTACAGCCACATCTCTCTTTAGATAGTGCTGACTGATTCTAGCCCTCAG
GGATGAGGATGAAAAGCTGGAAACTTCCACTTCCCCAACCTCAGAGCCTGACTGTAATGAAGAGACTGGCAGCACCTCCTGGAACACAAG
CCTAGGTGAGGCCCAGTCTTTCTTGGGTCTTATTATTTGTGAAGGTCTCTCTGCCTGTCGGCTGGGGCAGAGACTGAAATACTGCCACCT
ACCTTTGGCATTTAATGTTCCTCTCCTGGCAAAAATTCACTGCCACAGACAAACCACCCCCACTCCTACCCAGCCAGCCCTCAAAACACA
AAGGAACAAAGACAGTCCACTCAGACACTTATTTAATAACTGTAGAAATCCAAAAGAATTAGCATCAAATCTTGAAGTCGTGAGTGAAGC
TGCGGGTTGGCTTGACTGGGCTCAGCCACTGAGCTGCCTCAACCGGCCAAGGAACGGGATTATGATGACTATGCGGACTTCTATATTGTC

>In-frame_TMPRSS6_ENST00000381792_chr22_37485618_-_EME1_ENST00000511648_chr17_48455956_+_2346nt
CTTGAGCCAGACCCAGTCCAGCTCTGGTGCCTGCCCTCTGGTGCGAGCTGACCTGAGATGCACTTCCCTCCTCTGTGAGCTGTCTCGGCA
CCCACTTGCAGTCACTGCCGCCTGATGTTGTTACTCTTCCACTCCAAAAGGATGCCCGTGGCCGAGGCCCCCCAGGTGGCTGGCGGGCAG
GGGGACGGAGGTGATGGCGAGGAAGCGGAGCCGGAGGGGATGTTCAAGGCCTGTGAGGACTCCAAGAGAAAAGCCCGGGGCTACCTCCGC
CTGGTGCCCCTGTTTGTGCTGCTGGCCCTGCTCGTGCTGGCTTCGGCGGGGGTGCTACTCTGGTATTTCCTAGGGTACAAGGCGGAGGTG
ATGGTCAGCCAGGTGTACTCAGGCAGTCTGCGTGTACTCAATCGCCACTTCTCCCAGGATCTTACCCGCCGGGAATCTAGTGCCTTCCGC
AGTGAAACCGCCAAAGCCCAGAAGATGCTCAAGGAGCTCATCACCAGCACCCGCCTGGGAACTTACTACAACTCCAGCTCCGTCTATTCC
TTTGGGGAGGGACCCCTCACCTGCTTCTTCTGGTTCATTCTCCAAATCCCCGAGCACCGCCGGCTGATGCTGAGCCCCGAGGTGGTGCAG
GCACTGCTGGTGGAGGAGCTGCTGTCCACAGTCAACAGCTCGGCTGCCGTCCCCTACAGGGCCGAGTACGAAGTGGACCCCGAGGGCCTA
GTGATCCTGGAAGCCAGTGTGAAAGACATAGCTGCATTGAATTCCACGCTGGGTTGTTACCGCTACAGCTACGTGGGCCAGGGCCAGGTC
CTCCGGCTGAAGGGGCCTGACCACCTGGCCTCCAGCTGCCTGTGGCACCTGCAGGGCCCCAAGGACCTCATGCTCAAACTCCGGCTGGAG
TGGACGCTGGCAGAGTGCCGGGACCGACTGGCCATGTATGACGTGGCCGGGCCCCTGGAGAAGAGGCTCATCACCTCGACAGAGAGGACT
GGGTGGAGGAGCCAACAGTACTGGTGTTGCTCCGGGCAGAGGCATTTGTGTCCATGATCGACAATGGAAAGCAGGGAAGCCTGGACAGCA
CTATGAAAGGGAAGGAAACGCTTCAGGGCTTTGTAACTGACATCACAGCAAAGACAGCAGGGAAAGCTCTGTCACTGGTGATTGTGGATC
AGGAGAAATGCTTCAGCCTGGAGCTGCTGTTCTTTGATTTCCTCCCCTGCACCAGTGCTCAGAATCCTCCAAGAAGAGGGAAACAGGGAG
CAAATAAACAGACCAAGAAGCAGCAGCAGAGACAACCAGAGGCCAGCATAGGGTCCATGGTATCCAGGGTAGACGCTGAAGAGGCATTGG
TGGATCTGCAGCTACACACAGAAGCCCAGGCTCAAATTGTGCAGAGCTGGAAAGAGCTGGCCGACTTCACATGCGCATTCACAAAGGCTG
TGGCTGAGGCGCCCTTCAAGAAGCTCCGAGATGAAACTACCTTCTCCTTCTGTCTGGAGAGTGACTGGGCTGGAGGGGTGAAGGTGGACC
TTGCTGGCAGGGGACTCGCACTAGTCTGGAGGAGACAGATTCAGCAGCTGAACCGAGTCAGCCTGGAAATGGCCAGTGCAGTTGTGAATG
CCTATCCCTCCCCACAGCTCCTGGTACAGGCTTATCAGCAGTGTTTTTCGGATAAAGAACGCCAGAATTTGCTCGCAGACATACAGGTGC
GCCGTGGGGAAGGTGTGACATCCACTTCTCGCCGCATTGGACCAGAACTATCCAGGCGTATCTACCTTCAGATGACCACTTTACAGCCAC
ATCTCTCTTTAGATAGTGCTGACTGATTCTAGCCCTCAGGGATGAGGATGAAAAGCTGGAAACTTCCACTTCCCCAACCTCAGAGCCTGA
CTGTAATGAAGAGACTGGCAGCACCTCCTGGAACACAAGCCTAGGTGAGGCCCAGTCTTTCTTGGGTCTTATTATTTGTGAAGGTCTCTC
TGCCTGTCGGCTGGGGCAGAGACTGAAATACTGCCACCTACCTTTGGCATTTAATGTTCCTCTCCTGGCAAAAATTCACTGCCACAGACA
AACCACCCCCACTCCTACCCAGCCAGCCCTCAAAACACAAAGGAACAAAGACAGTCCACTCAGACACTTATTTAATAACTGTAGAAATCC
AAAAGAATTAGCATCAAATCTTGAAGTCGTGAGTGAAGCTGCGGGTTGGCTTGACTGGGCTCAGCCACTGAGCTGCCTCAACCGGCCAAG
GAACGGGATTATGATGACTATGCGGACTTCTATATTGTCTTCATCTCATTGTGTGTATTATGTATTTAGTTTCAATAAAGCATTTGTACC


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FusionGenePPI for TMPRSS6_EME1


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
TMPRSS6EME1MUS81, SLX4, SLX1B, SLX1A, APP, SUMO2, RBM33, KLK5, UHRF1, HIST1H2BG, HERC2, HNRNPU, PML, SORT1, YEATS4, CCDC88A, UGGT1, VWA9, KIF18A, PARD6B, CNTROB, USF1, CCL22, SNX21, INTU, NEUROG3, IDO2, DDB1


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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RelatedDrugs for TMPRSS6_EME1


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

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RelatedDiseases for TMPRSS6_EME1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMPRSS6C0085576Iron-Refractory Iron Deficiency Anemia7CTD_human;ORPHANET;UNIPROT
HgeneTMPRSS6C0162316Iron deficiency anemia2CTD_human