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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: 21784

FusionGeneSummary for MFSD8_HIPK2

check button Fusion gene summary
Fusion gene informationFusion gene name: MFSD8_HIPK2
Fusion gene ID: 21784
HgeneTgene
Gene symbol

MFSD8

HIPK2

Gene ID

256471

28996

Gene namemajor facilitator superfamily domain containing 8homeodomain interacting protein kinase 2
SynonymsCCMD|CLN7PRO0593
Cytomap

4q28.2

7q34

Type of geneprotein-codingprotein-coding
Descriptionmajor facilitator superfamily domain-containing protein 8ceroid-lipofuscinosis, neuronal 7, late infantilehomeodomain-interacting protein kinase 2hHIPk2
Modification date2018052420180522
UniProtAcc

Q8NHS3

Q9H2X6

Ensembl transtripts involved in fusion geneENST00000296468, ENST00000515130, 
ENST00000513559, ENST00000541133, 
ENST00000406875, ENST00000428878, 
ENST00000342645, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 5 X 2=50
# samples 15
** MAII scorelog2(1/1*10)=3.32192809488736log2(5/50*10)=0
Context

PubMed: MFSD8 [Title/Abstract] AND HIPK2 [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.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
Kinase involved fusion gene, inframe and retained kinase 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
TgeneHIPK2

GO:0006468

protein phosphorylation

19448668

TgeneHIPK2

GO:0006978

DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

14647468

TgeneHIPK2

GO:0045766

positive regulation of angiogenesis

19046997

TgeneHIPK2

GO:0060395

SMAD protein signal transduction

12874272


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
TCGALDSTADTCGA-BR-7704-01AMFSD8chr4

128870959

-HIPK2chr7

139305309

-
* 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-frameENST00000296468ENST00000406875MFSD8chr4

128870959

-HIPK2chr7

139305309

-
In-frameENST00000296468ENST00000428878MFSD8chr4

128870959

-HIPK2chr7

139305309

-
In-frameENST00000296468ENST00000342645MFSD8chr4

128870959

-HIPK2chr7

139305309

-
5UTR-3CDSENST00000515130ENST00000406875MFSD8chr4

128870959

-HIPK2chr7

139305309

-
5UTR-3CDSENST00000515130ENST00000428878MFSD8chr4

128870959

-HIPK2chr7

139305309

-
5UTR-3CDSENST00000515130ENST00000342645MFSD8chr4

128870959

-HIPK2chr7

139305309

-
Frame-shiftENST00000513559ENST00000406875MFSD8chr4

128870959

-HIPK2chr7

139305309

-
Frame-shiftENST00000513559ENST00000428878MFSD8chr4

128870959

-HIPK2chr7

139305309

-
Frame-shiftENST00000513559ENST00000342645MFSD8chr4

128870959

-HIPK2chr7

139305309

-
Frame-shiftENST00000541133ENST00000406875MFSD8chr4

128870959

-HIPK2chr7

139305309

-
Frame-shiftENST00000541133ENST00000428878MFSD8chr4

128870959

-HIPK2chr7

139305309

-
Frame-shiftENST00000541133ENST00000342645MFSD8chr4

128870959

-HIPK2chr7

139305309

-

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FusionProtFeatures for MFSD8_HIPK2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MFSD8

Q8NHS3

HIPK2

Q9H2X6

May be a carrier that transport small solutes by usingchemiosmotic ion gradients. {ECO:0000305}. Serine/threonine-protein kinase involved intranscription regulation, p53/TP53-mediated cellular apoptosis andregulation of the cell cycle. Acts as a corepressor of severaltranscription factors, including SMAD1 and POU4F1/Brn3a andprobably NK homeodomain transcription factors. PhosphorylatesPDX1, ATF1, PML, p53/TP53, CREB1, CTBP1, CBX4, RUNX1, EP300,CTNNB1, HMGA1 and ZBTB4. Inhibits cell growth and promotesapoptosis through the activation of p53/TP53 both at thetranscription level and at the protein level (by phosphorylationand indirect acetylation). The phosphorylation of p53/TP53 may bemediated by a p53/TP53-HIPK2-AXIN1 complex. Involved in theresponse to hypoxia by acting as a transcriptional co-suppressorof HIF1A. Mediates transcriptional activation of TP73. In responseto TGFB, cooperates with DAXX to activate JNK. Negative regulatorthrough phosphorylation and subsequent proteasomal degradation ofCTNNB1 and the antiapoptotic factor CTBP1. In the Wnt/beta-cateninsignaling pathway acts as an intermediate kinase betweenMAP3K7/TAK1 and NLK to promote the proteasomal degradation of MYB.Phosphorylates CBX4 upon DNA damage and promotes its E3 SUMO-protein ligase activity. Activates CREB1 and ATF1 transcriptionfactors by phosphorylation in response to genotoxic stress. Inresponse to DNA damage, stabilizes PML by phosphorylation. PML,HIPK2 and FBXO3 may act synergically to activate p53/TP53-dependent transactivation. Promotes angiogenesis, and is involvedin erythroid differentiation, especially during fetal livererythropoiesis. Phosphorylation of RUNX1 and EP300 stimulatesEP300 transcription regulation activity. Triggers ZBTB4 proteindegradation in response to DNA damage. Modulates HMGA1 DNA-bindingaffinity. In response to high glucose, triggers phosphorylation-mediated subnuclear localization shifting of PDX1. Involved in theregulation of eye size, lens formation and retinal laminationduring late embryogenesis. {ECO:0000269|PubMed:11740489,ECO:0000269|PubMed:11925430, ECO:0000269|PubMed:12851404,ECO:0000269|PubMed:12874272, ECO:0000269|PubMed:14678985,ECO:0000269|PubMed:17018294, ECO:0000269|PubMed:17960875,ECO:0000269|PubMed:18695000, ECO:0000269|PubMed:18809579,ECO:0000269|PubMed:19015637, ECO:0000269|PubMed:19046997,ECO:0000269|PubMed:19448668, ECO:0000269|PubMed:20307497,ECO:0000269|PubMed:20573984, ECO:0000269|PubMed:20637728,ECO:0000269|PubMed:20980392, ECO:0000269|PubMed:21192925,ECO:0000269|PubMed:22825850}.

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
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-41313_1466519MotifNote=Dileucine internalization motif
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-4131_4066519Topological domainCytoplasmic
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-41341_6166519TransmembraneHelical
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-5151088_10945391199Compositional biasNote=Poly-Ala
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-5151088_10945391172Compositional biasNote=Poly-Ala
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515802_8055391199MotifNote=Nuclear localization signal 1 (NLS1)
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515832_8355391199MotifNote=Nuclear localization signal 2 (NLS2)
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515802_8055391172MotifNote=Nuclear localization signal 1 (NLS1)
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515832_8355391172MotifNote=Nuclear localization signal 2 (NLS2)
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515873_9805391199RegionRequired for localization to nuclear speckles
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515984_11985391199RegionNote=Autoinhibitory domain (AID)
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515873_9805391172RegionRequired for localization to nuclear speckles
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515984_11985391172RegionNote=Autoinhibitory domain (AID)

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413127_13166519Topological domainExtracellular
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413153_17366519Topological domainCytoplasmic
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413195_21166519Topological domainExtracellular
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413233_26666519Topological domainCytoplasmic
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413288_30466519Topological domainExtracellular
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413326_33766519Topological domainCytoplasmic
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413359_41266519Topological domainExtracellular
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413434_45166519Topological domainCytoplasmic
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413473_48266519Topological domainExtracellular
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413504_51866519Topological domainCytoplasmic
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-41362_7466519Topological domainExtracellular
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-41396_10566519Topological domainCytoplasmic
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413106_12666519TransmembraneHelical
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413132_15266519TransmembraneHelical
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413174_19466519TransmembraneHelical
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413212_23266519TransmembraneHelical
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413267_28766519TransmembraneHelical
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413305_32566519TransmembraneHelical
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413338_35866519TransmembraneHelical
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413413_43366519TransmembraneHelical
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413452_47266519TransmembraneHelical
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-413483_50366519TransmembraneHelical
HgeneMFSD8chr4:128870959chr7:139305309ENST00000296468-41375_9566519TransmembraneHelical
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515199_5275391199DomainProtein kinase
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515199_5275391172DomainProtein kinase
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515205_2135391199Nucleotide bindingATP
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515205_2135391172Nucleotide bindingATP
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-51597_2305391199RegionTranscriptional corepression
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-51597_2305391172RegionTranscriptional corepression


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FusionGeneSequence for MFSD8_HIPK2


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_MFSD8_ENST00000296468_chr4_128870959_-_HIPK2_ENST00000406875_chr7_139305309_-_725aa
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKRQIMFPEHGDLQASGEYVXHGEPE
QNPFHHARGPQHVHQPDHDLXQPADHCPQPGSLLYQCHYFLSQSRSLHTKLPIYTLPALSGIHGCSGPAEHAPADRNSPDLCPAXPVPAS
SHRVSPRLPRLAGLSLXARWLLGANGKCSSHRHSSPRSSASSDPTRSACPAGLAKWDPADPASPSMAATDWSGHPHISAACHRDSRDHGR
HPAAGGLEKYACSRKPLXSHHAAACTIDRSCDPSSSTALKCGCGPRDAAAANQHHLLPEEXAAPVICEKCLHLXGVLLSGHQLPTAIQAC
QGEHTSPLCHGAQXPGLQHLGHLWVGRRGLQHHPGTAAADNCHSRHSQPHGQRHHHQQXHGRGGGTETRPHQHCLQAKKKRHQLCHSPRL
PLLRLLQQHQPLLRAAACWAQQCQCLXHQGEPGESLHGEPPNHHRATPENPGQRSIGGVXXPGASQHQSPLVLLQVQVLQQRDLHQRSLF
RELIWSHHLPAAAAGPPLPAAAATQSQPGSAAHHHGPHWEPPKAAGLHHSHHGPGSVLLPAQQPQPRHCAPASGCSRCRCPPPHPAPPLH
LHCAGGPGLHRHRGPPGGLARLCAPHRAAHCLPSQHRPPGPREHGPPGPALAHHPPESVSSPICPPDLHQRLASLHRLHWIPTEPRQGQP

>In-frame_MFSD8_ENST00000296468_chr4_128870959_-_HIPK2_ENST00000428878_chr7_139305309_-_698aa
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKRQIMFPEHGDLQASGEYVXHGEPE
QNPFHHARGPQHVHQPDHDLXQPADHCPQPALSGIHGCSGPAEHAPADRNSPDLCPAXPVPASSHRVSPRLPRLAGLSLXARWLLGANGK
CSSHRHSSPRSSASSDPTRSACPAGLAKWDPADPASPSMAATDWSGHPHISAACHRDSRDHGRHPAAGGLEKYACSRKPLXSHHAAACTI
DRSCDPSSSTALKCGCGPRDAAAANQHHLLPEEXAAPVICEKCLHLXGVLLSGHQLPTAIQACQGEHTSPLCHGAQXPGLQHLGHLWVGR
RGLQHHPGTAAADNCHSRHSQPHGQRHHHQQXHGRGGGTETRPHQHCLQAKKKRHQLCHSPRLPLLRLLQQHQPLLRAAACWAQQCQCLX
HQGEPGESLHGEPPNHHRATPENPGQRSIGGVXXPGASQHQSPLVLLQVQVLQQRDLHQRSLFRELIWSHHLPAAAAGPPLPAAAATQSQ
PGSAAHHHGPHWEPPKAAGLHHSHHGPGSVLLPAQQPQPRHCAPASGCSRCRCPPPHPAPPLHLHCAGGPGLHRHRGPPGGLARLCAPHR

>In-frame_MFSD8_ENST00000296468_chr4_128870959_-_HIPK2_ENST00000342645_chr7_139305309_-_445aa
MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIRILYLTMFLSSVGFSVVMMSIWPYLQKRQIMFPEHGDLQASGEYVXHGEPE
QNPFHHARGPQHVHQPDHDLXQPADHCPQPGSLLYQCHYFLSQSRSLHTKLPIYTLPALSGIHGCSGPAEHAPADRNSPDLCPAXPVPAS
SHRVSPRLPRLAGLSLXARWLLGANGKCSSHRHSSPRSSASSDPTRSACPAGLAKWDPADPASPSMAATDWSGHPHISAACHRDSRDHGR
HPAAGGLEKYACSRKPLXSHHAAACTIDRSCDPSSSTALKCGCGPRDAAAANQHHLLPEEXAAPVISKKKRHQLCHSPRLPLLRLLQQHQ


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_MFSD8_ENST00000296468_chr4_128870959_-_HIPK2_ENST00000406875_chr7_139305309_-_2176nt
ATGGCCGGCCTGCGGAACGAAAGTGAACAGGAGCCGCTCTTAGGCGACACACCTGGAAGCAGAGAATGGGACATTTTAGAGACTGAAGAG
CATTATAAGAGCCGATGGAGATCTATTAGGATTTTATATCTTACTATGTTTCTCAGCAGTGTAGGGTTTTCTGTAGTGATGATGTCCATA
TGGCCATATCTCCAAAAGCGTCAAATCATGTTTCCAGAACATGGAGATCTGCAAGCGTCGGGTGAATATGTATGACACGGTGAACCAGAG
CAAAACCCCTTTCATCACGCACGTGGCCCCCAGCACGTCCACCAACCTGACCATGACCTTTAACAACCAGCTGACCACTGTCCACAACCA
GGCTCCCTCCTCTACCAGTGCCACTATTTCCTTAGCCAATCCCGAAGTCTCCATACTAAACTACCCATCTACACTCTACCAGCCCTCAGC
GGCATCCATGGCTGCAGTGGCCCAGCGGAGCATGCCCCTGCAGACAGGAACAGCCCAGATTTGTGCCCGGCCTGACCCGTTCCAGCAAGC
TCTCATCGTGTGTCCCCCCGGCTTCCAAGGCTTGCAGGCCTCTCCCTCTAAGCACGCTGGCTACTCGGTGCGAATGGAAAATGCAGTTCC
CATCGTCACTCAAGCCCCAGGAGCTCAGCCTCTTCAGATCCAACCAGGTCTGCTTGCCCAGCAGGCTTGGCCAAGTGGGACCCAGCAGAT
CCTGCTTCCCCCAGCATGGCAGCAACTGACTGGAGTGGCCACCCACACATCAGTGCAGCATGCCACCGTGATTCCCGAGACCATGGCAGG
CACCCAGCAGCTGGCGGACTGGAGAAATACGCATGCTCACGGAAGCCATTATAATCCCATCATGCAGCAGCCTGCACTATTGACCGGTCA
TGTGACCCTTCCAGCAGCACAGCCCTTAAATGTGGGTGTGGCCCACGTGATGCGGCAGCAGCCAACCAGCACCACCTCCTCCCGGAAGAG
TAAGCAGCACCAGTCATCTGTGAGAAATGTCTCCACCTGTGAGGTGTCCTCCTCTCAGGCCATCAGCTCCCCACAGCGATCCAAGCGTGT
CAAGGAGAACACACCTCCCCGCTGTGCCATGGTGCACAGTAGCCCGGCCTGCAGCACCTCGGTCACCTGTGGGTGGGGCGACGTGGCCTC
CAGCACCACCCGGGAACGGCAGCGGCAGACAATTGTCATTCCCGACACTCCCAGCCCCACGGTCAGCGTCATCACCATCAGCAGTGACAC
GGACGAGGAGGAGGAACAGAAACACGCCCCCACCAGCACTGTCTCCAAGCAAAGAAAAAACGTCATCAGCTGTGTCACAGTCCACGACTC
CCCCTACTCCGACTCCTCCAGCAACACCAGCCCCTACTCCGTGCAGCAGCGTGCTGGGCACAACAATGCCAATGCCTTTGACACCAAGGG
GAGCCTGGAGAATCACTGCACGGGGAACCCCCGAACCATCATCGTGCCACCCCTGAAAACCCAGGCCAGCGAAGTATTGGTGGAGTGTGA
TAGCCTGGTGCCAGTCAACACCAGTCACCACTCGTCCTCCTACAAGTCCAAGTCCTCCAGCAACGTGACCTCCACCAGCGGTCACTCTTC
AGGGAGCTCATCTGGAGCCATCACCTACCGGCAGCAGCGGCCGGGCCCCCACTTCCAGCAGCAGCAGCCACTCAATCTCAGCCAGGCTCA
GCAGCACATCACCACGGACCGCACTGGGAGCCACCGAAGGCAGCAGGCCTACATCACTCCCACCATGGCCCAGGCTCCGTACTCCTTCCC
GCACAACAGCCCCAGCCACGGCACTGTGCACCCGCATCTGGCTGCAGCCGCTGCCGCTGCCCACCTCCCCACCCAGCCCCACCTCTACAC
CTACACTGCGCCGGCGGCCCTGGGCTCCACCGGCACCGTGGCCCACCTGGTGGCCTCGCAAGGCTCTGCGCGCCACACCGTGCAGCACAC
TGCCTACCCAGCCAGCATCGTCCACCAGGTCCCCGTGAGCATGGGCCCCCGGGTCCTGCCCTCGCCCACCATCCACCCGAGTCAGTATCC
AGCCCAATTTGCCCACCAGACCTACATCAGCGCCTCGCCAGCCTCCACCGTCTACACTGGATACCCACTGAGCCCCGCCAAGGTCAACCA

>In-frame_MFSD8_ENST00000296468_chr4_128870959_-_HIPK2_ENST00000428878_chr7_139305309_-_2095nt
ATGGCCGGCCTGCGGAACGAAAGTGAACAGGAGCCGCTCTTAGGCGACACACCTGGAAGCAGAGAATGGGACATTTTAGAGACTGAAGAG
CATTATAAGAGCCGATGGAGATCTATTAGGATTTTATATCTTACTATGTTTCTCAGCAGTGTAGGGTTTTCTGTAGTGATGATGTCCATA
TGGCCATATCTCCAAAAGCGTCAAATCATGTTTCCAGAACATGGAGATCTGCAAGCGTCGGGTGAATATGTATGACACGGTGAACCAGAG
CAAAACCCCTTTCATCACGCACGTGGCCCCCAGCACGTCCACCAACCTGACCATGACCTTTAACAACCAGCTGACCACTGTCCACAACCA
GCCCTCAGCGGCATCCATGGCTGCAGTGGCCCAGCGGAGCATGCCCCTGCAGACAGGAACAGCCCAGATTTGTGCCCGGCCTGACCCGTT
CCAGCAAGCTCTCATCGTGTGTCCCCCCGGCTTCCAAGGCTTGCAGGCCTCTCCCTCTAAGCACGCTGGCTACTCGGTGCGAATGGAAAA
TGCAGTTCCCATCGTCACTCAAGCCCCAGGAGCTCAGCCTCTTCAGATCCAACCAGGTCTGCTTGCCCAGCAGGCTTGGCCAAGTGGGAC
CCAGCAGATCCTGCTTCCCCCAGCATGGCAGCAACTGACTGGAGTGGCCACCCACACATCAGTGCAGCATGCCACCGTGATTCCCGAGAC
CATGGCAGGCACCCAGCAGCTGGCGGACTGGAGAAATACGCATGCTCACGGAAGCCATTATAATCCCATCATGCAGCAGCCTGCACTATT
GACCGGTCATGTGACCCTTCCAGCAGCACAGCCCTTAAATGTGGGTGTGGCCCACGTGATGCGGCAGCAGCCAACCAGCACCACCTCCTC
CCGGAAGAGTAAGCAGCACCAGTCATCTGTGAGAAATGTCTCCACCTGTGAGGTGTCCTCCTCTCAGGCCATCAGCTCCCCACAGCGATC
CAAGCGTGTCAAGGAGAACACACCTCCCCGCTGTGCCATGGTGCACAGTAGCCCGGCCTGCAGCACCTCGGTCACCTGTGGGTGGGGCGA
CGTGGCCTCCAGCACCACCCGGGAACGGCAGCGGCAGACAATTGTCATTCCCGACACTCCCAGCCCCACGGTCAGCGTCATCACCATCAG
CAGTGACACGGACGAGGAGGAGGAACAGAAACACGCCCCCACCAGCACTGTCTCCAAGCAAAGAAAAAACGTCATCAGCTGTGTCACAGT
CCACGACTCCCCCTACTCCGACTCCTCCAGCAACACCAGCCCCTACTCCGTGCAGCAGCGTGCTGGGCACAACAATGCCAATGCCTTTGA
CACCAAGGGGAGCCTGGAGAATCACTGCACGGGGAACCCCCGAACCATCATCGTGCCACCCCTGAAAACCCAGGCCAGCGAAGTATTGGT
GGAGTGTGATAGCCTGGTGCCAGTCAACACCAGTCACCACTCGTCCTCCTACAAGTCCAAGTCCTCCAGCAACGTGACCTCCACCAGCGG
TCACTCTTCAGGGAGCTCATCTGGAGCCATCACCTACCGGCAGCAGCGGCCGGGCCCCCACTTCCAGCAGCAGCAGCCACTCAATCTCAG
CCAGGCTCAGCAGCACATCACCACGGACCGCACTGGGAGCCACCGAAGGCAGCAGGCCTACATCACTCCCACCATGGCCCAGGCTCCGTA
CTCCTTCCCGCACAACAGCCCCAGCCACGGCACTGTGCACCCGCATCTGGCTGCAGCCGCTGCCGCTGCCCACCTCCCCACCCAGCCCCA
CCTCTACACCTACACTGCGCCGGCGGCCCTGGGCTCCACCGGCACCGTGGCCCACCTGGTGGCCTCGCAAGGCTCTGCGCGCCACACCGT
GCAGCACACTGCCTACCCAGCCAGCATCGTCCACCAGGTCCCCGTGAGCATGGGCCCCCGGGTCCTGCCCTCGCCCACCATCCACCCGAG
TCAGTATCCAGCCCAATTTGCCCACCAGACCTACATCAGCGCCTCGCCAGCCTCCACCGTCTACACTGGATACCCACTGAGCCCCGCCAA

>In-frame_MFSD8_ENST00000296468_chr4_128870959_-_HIPK2_ENST00000342645_chr7_139305309_-_1336nt
ATGGCCGGCCTGCGGAACGAAAGTGAACAGGAGCCGCTCTTAGGCGACACACCTGGAAGCAGAGAATGGGACATTTTAGAGACTGAAGAG
CATTATAAGAGCCGATGGAGATCTATTAGGATTTTATATCTTACTATGTTTCTCAGCAGTGTAGGGTTTTCTGTAGTGATGATGTCCATA
TGGCCATATCTCCAAAAGCGTCAAATCATGTTTCCAGAACATGGAGATCTGCAAGCGTCGGGTGAATATGTATGACACGGTGAACCAGAG
CAAAACCCCTTTCATCACGCACGTGGCCCCCAGCACGTCCACCAACCTGACCATGACCTTTAACAACCAGCTGACCACTGTCCACAACCA
GGCTCCCTCCTCTACCAGTGCCACTATTTCCTTAGCCAATCCCGAAGTCTCCATACTAAACTACCCATCTACACTCTACCAGCCCTCAGC
GGCATCCATGGCTGCAGTGGCCCAGCGGAGCATGCCCCTGCAGACAGGAACAGCCCAGATTTGTGCCCGGCCTGACCCGTTCCAGCAAGC
TCTCATCGTGTGTCCCCCCGGCTTCCAAGGCTTGCAGGCCTCTCCCTCTAAGCACGCTGGCTACTCGGTGCGAATGGAAAATGCAGTTCC
CATCGTCACTCAAGCCCCAGGAGCTCAGCCTCTTCAGATCCAACCAGGTCTGCTTGCCCAGCAGGCTTGGCCAAGTGGGACCCAGCAGAT
CCTGCTTCCCCCAGCATGGCAGCAACTGACTGGAGTGGCCACCCACACATCAGTGCAGCATGCCACCGTGATTCCCGAGACCATGGCAGG
CACCCAGCAGCTGGCGGACTGGAGAAATACGCATGCTCACGGAAGCCATTATAATCCCATCATGCAGCAGCCTGCACTATTGACCGGTCA
TGTGACCCTTCCAGCAGCACAGCCCTTAAATGTGGGTGTGGCCCACGTGATGCGGCAGCAGCCAACCAGCACCACCTCCTCCCGGAAGAG
TAAGCAGCACCAGTCATCTCAAAGAAAAAACGTCATCAGCTGTGTCACAGTCCACGACTCCCCCTACTCCGACTCCTCCAGCAACACCAG
CCCCTACTCCGTGCAGCAGCGTGCTGGGCACAACAATGCCAATGCCTTTGACACCAAGGGGAGCCTGGAGAATCACTGCACGGGGAACCC
CCGAACCATCATCGTGCCACCCCTGAAAACCCAGGCCAGCGAAGTATTGGTGGAGTGTGATAGCCTGGTGCCAGGTAATTTGGGGCCAGG


* Fusion transcript sequences (Full-length transcript).
>In-frame_MFSD8_ENST00000296468_chr4_128870959_-_HIPK2_ENST00000406875_chr7_139305309_-_13661nt
AGGTTACAAGCAGCAGATCCCACCTTCAGTCCTGGCTCTGACAAGCCCTCCAGCTTCACGCCACCCGGGATGGGAGAAAGCAGGTGTCGC
GAGAGTTGGGCGCAAGACGCCTTGTAGGGAGTGTAACTATGGCCGGCCTGCGGAACGAAAGTGAACAGGAGCCGCTCTTAGGCGACACAC
CTGGAAGCAGAGAATGGGACATTTTAGAGACTGAAGAGCATTATAAGAGCCGATGGAGATCTATTAGGATTTTATATCTTACTATGTTTC
TCAGCAGTGTAGGGTTTTCTGTAGTGATGATGTCCATATGGCCATATCTCCAAAAGCGTCAAATCATGTTTCCAGAACATGGAGATCTGC
AAGCGTCGGGTGAATATGTATGACACGGTGAACCAGAGCAAAACCCCTTTCATCACGCACGTGGCCCCCAGCACGTCCACCAACCTGACC
ATGACCTTTAACAACCAGCTGACCACTGTCCACAACCAGGCTCCCTCCTCTACCAGTGCCACTATTTCCTTAGCCAATCCCGAAGTCTCC
ATACTAAACTACCCATCTACACTCTACCAGCCCTCAGCGGCATCCATGGCTGCAGTGGCCCAGCGGAGCATGCCCCTGCAGACAGGAACA
GCCCAGATTTGTGCCCGGCCTGACCCGTTCCAGCAAGCTCTCATCGTGTGTCCCCCCGGCTTCCAAGGCTTGCAGGCCTCTCCCTCTAAG
CACGCTGGCTACTCGGTGCGAATGGAAAATGCAGTTCCCATCGTCACTCAAGCCCCAGGAGCTCAGCCTCTTCAGATCCAACCAGGTCTG
CTTGCCCAGCAGGCTTGGCCAAGTGGGACCCAGCAGATCCTGCTTCCCCCAGCATGGCAGCAACTGACTGGAGTGGCCACCCACACATCA
GTGCAGCATGCCACCGTGATTCCCGAGACCATGGCAGGCACCCAGCAGCTGGCGGACTGGAGAAATACGCATGCTCACGGAAGCCATTAT
AATCCCATCATGCAGCAGCCTGCACTATTGACCGGTCATGTGACCCTTCCAGCAGCACAGCCCTTAAATGTGGGTGTGGCCCACGTGATG
CGGCAGCAGCCAACCAGCACCACCTCCTCCCGGAAGAGTAAGCAGCACCAGTCATCTGTGAGAAATGTCTCCACCTGTGAGGTGTCCTCC
TCTCAGGCCATCAGCTCCCCACAGCGATCCAAGCGTGTCAAGGAGAACACACCTCCCCGCTGTGCCATGGTGCACAGTAGCCCGGCCTGC
AGCACCTCGGTCACCTGTGGGTGGGGCGACGTGGCCTCCAGCACCACCCGGGAACGGCAGCGGCAGACAATTGTCATTCCCGACACTCCC
AGCCCCACGGTCAGCGTCATCACCATCAGCAGTGACACGGACGAGGAGGAGGAACAGAAACACGCCCCCACCAGCACTGTCTCCAAGCAA
AGAAAAAACGTCATCAGCTGTGTCACAGTCCACGACTCCCCCTACTCCGACTCCTCCAGCAACACCAGCCCCTACTCCGTGCAGCAGCGT
GCTGGGCACAACAATGCCAATGCCTTTGACACCAAGGGGAGCCTGGAGAATCACTGCACGGGGAACCCCCGAACCATCATCGTGCCACCC
CTGAAAACCCAGGCCAGCGAAGTATTGGTGGAGTGTGATAGCCTGGTGCCAGTCAACACCAGTCACCACTCGTCCTCCTACAAGTCCAAG
TCCTCCAGCAACGTGACCTCCACCAGCGGTCACTCTTCAGGGAGCTCATCTGGAGCCATCACCTACCGGCAGCAGCGGCCGGGCCCCCAC
TTCCAGCAGCAGCAGCCACTCAATCTCAGCCAGGCTCAGCAGCACATCACCACGGACCGCACTGGGAGCCACCGAAGGCAGCAGGCCTAC
ATCACTCCCACCATGGCCCAGGCTCCGTACTCCTTCCCGCACAACAGCCCCAGCCACGGCACTGTGCACCCGCATCTGGCTGCAGCCGCT
GCCGCTGCCCACCTCCCCACCCAGCCCCACCTCTACACCTACACTGCGCCGGCGGCCCTGGGCTCCACCGGCACCGTGGCCCACCTGGTG
GCCTCGCAAGGCTCTGCGCGCCACACCGTGCAGCACACTGCCTACCCAGCCAGCATCGTCCACCAGGTCCCCGTGAGCATGGGCCCCCGG
GTCCTGCCCTCGCCCACCATCCACCCGAGTCAGTATCCAGCCCAATTTGCCCACCAGACCTACATCAGCGCCTCGCCAGCCTCCACCGTC
TACACTGGATACCCACTGAGCCCCGCCAAGGTCAACCAGTACCCTTACATATAAACACTGGAGGGGAGGGAGGGAGGGAGGGAGGGAGAG
AATGGCCCGAGGGAGGAGGGAGAGAAGGAGGGAGGCGCTCCTGGGACCGTGGGCGCTGGCCTTTTATACTGAAGATGCCGCACACAAACA
ATGCAAACGGGGCAGGGGCGGGGGGGGGGGGGGGGGCAGAGGGCAGGGGGACGGGTCGGGACACCAGTGAAACTTGAACCGGGAAGTGGG
AGGACGTAGAGCAGAGAAGAGAACATTTTTAAAAGGAAGGGATTAAAGAGGGTGGGAAATCTATGGTTTTTATTTTAAAAAAGAAAAAGG
AAAAAAAAAAAGTCAATAACAAAAAACCCAGCTCAAGAACCCATTCTACGCCAAACTGGAAAGGAGAAGAGAGCAACAGGAAGATTCCAG
AAACGGGGGGCCCCAGTTTTTGAAGAACTTTATGAACTTTTCAAAGATTATTTTCATATGGCAGCAAGTGATACGGAAGACTGCTGTCAG
GGACACCTGATATGGAAATCAAATAGATTTTTAATTAATTGAACATAAGATTTAGGGATTTTTCCAGAACTCGAAAGGGTCAACAGCCCT
CCAGAATGTCGGGCTGCAGCCTGAGGAGGCTGATGTTTGGAGCTGGTGTGGGATTGGCGAAGCCCAGTCCGGGCTCCCTAGTCAGGAAAG
ACGGGGGACGGCCAGGCTGCTGGAAGGCCCCCGGGGGCGCGGGGCGAGTTTTCTTTTTCTGAGCACTCTGGATAAATCCCTAAGCAACGT
TGTTTCTCAAATGTCATTAATAATGTGTGTTGCAAACTTTAGGTTTTTTTCTTTTCTGAAAATGTATTTTCTCTTTGAATCCACCCCTAG
TCGCGTAGCGTAGGGCTAGCGGTCGTCACAGACACCCTAGTAGAATGTAGCACTCAGCACCCTTGTCTCCTACCTTGTGTTCAACTCCAA
TGATACCAATAGAATATTCCTCAATGTAATTGCACAAAAAAAAGCGATATAACATAGGCATGTAACCAATGTGGCGGTGCAGGTGTGCGG
GTGAGCGAGCACGTGTGGGTGTGCACGCGCCGCCCTCCCCGCGTGGCCCTCGGCGCCGCCACCCTAGCTGGCGCAGTCTTGACACTGCAT
CCTTCCCTCCTAGTGCCTTACCGAGCGACAGACGCGGCGTGAGGGTTTACTTCCACTGGTACTCCAAGAAACTGAGGCTAGTCAGACACA
ATCTCAGCTCTTCTGTTGTGCTGTTGTAACAGTTTACGCTGGCCTTTTTTTTTTCTTTTTCTTTTTCTTTTTAAAATGTTAATGCCCGTT
GTCTTTCCTGGGCTGTTTGCTAGCGGAAGGATGCCAGGGAAGCCAGCAGGAGCTAGGAGAGAGTCCGTGGATCTCGAAAGAAATATGGGA
GACAGATGCCCGGCGGGTGCGTCTGGAGATGGGGACGGCGGGAGTTGAGTTGTGGCAGTAGTTGAGTTGTAATTTGTGGGCGGAGGCCCA
GAGAGACTCCCCACCCTTCACCCCTGCCCCACTCTGTCCCCAGTTCCGCCATTTGTGAGGCCAGAGGTTTCCGGACTGTTGGCCTCGCCA
GGCAGCCGTCTCCCGCCCCAGGCGGCATCCCCCAGTCCCTCCCGCCTCCACGAGAGCCTGGAGCTCTCAGCCTCGCCCGGGGCTCCACTC
TCTCCTCCGGCTCCCTGGGCTGTTTTGCTCTAACGATCTTGCCAGATCCCTCCCTCTGTAGACAACCACCAACCTCTGTTTGCTGTTGAA
TTCTCTCCTCACATTACCCAGGTCTGCTCAAGACATGATTTTGGTTTTGGTTTCTGAGGGTTCTAGTGGGCAGAAGGTTGGAGGGACACT
TATGAGGGTGGCCGGGGGTCTGACGCTGCACTTTGGAAAAACTCACACAGTTGAATTTCCAAAGAAATCTGCCCTTTGCCCTCTTTGCAC
CTTTGATACATTCTGGAAGTTTTCTCAGGCTTTGGACACTTCTGGGGATGGAGGTGTGGAGAAGTGGGGAGTTCCCTCTCTTCATAGTAA
ATAACTCTGAAATATGTGAATGTGAATGGCAGGAGAATCTGGCCAAGGATGGGGCCGAAAAGGGTGGTTCTAATTGTTTGCTTCTGATGT
TGAGTCTTTAGCTGACCCCACAGGCAGGTTTCCAAGGTGCAAAGAGATCTTTCCCGAGTCAGCGGCCCCATCCTCATCCTCCCTCCCTTT
ACTTCCTCACTGTGCAGTCTCCCTCAAGGATCTACTGTGAAAGGTGTGTTTGTAGTGATATCCAACCTAACTCAGTAACGAAGTCGTTAC
TTAGCTCTTAGCTGTGAAATAACTCTGGAAACTTCCCCACCCCAACCATAAATTCTTACTTATAAAGAAACAGGTCCCCAAACTGGAAAC
AGCTTAGTCCAGGCCTCAGCGAGAAGGAAGGACACCATGACTGCTCCATGCTGGGCACAGCCGGGCAGTCTTGCCAAGTGCCTGCTGGAG
GCTGTGCCGGCAAGAGGCCTGCAGCAAGGAGATTCCCTTCCCTCGGGCCATTATCAATACTGTCTTTATCTGGAGGTGGGGAAGCGCAGC
CCTCTGAGACAGCAGGACAATGGTCAGTTCAGAGAGGGTGAGGGCAGCAAACGCTTCAGAGGACACAGAAGCCAGAGGACCCCCCCCCGC
CCCACAGCTGGGTCAGCCTGGAAAATCCATCTATTAGGGACTTTTTGGCAGCCAGATGGCAGCAATAGCCCATTAGGTCTCATCCCGAGT
TCCAAGTCTTGGCTGCAAATGAGCCTCAGTTCGCCTTACTGGAGAGCACCCCCAGATTCCTGGGCACAGTTCATTTCCAGCCCTTTCTAG
ATCTGATCTTTTAGGGGGAAAGACAGCTTAAAATGTTCTTTTCATTTTAAAGAAAATTATTCTGTCTGCTTAAGTTGGAGGCTACTTACT
CTTTCACCTGACATTTTCTTTCCTTTTATTCTTCCAGATCAGGAATGAAATTTCCATGCTGCTCATAAAGATAATATTATTGTACTAATT
ATTTTTATTACCATTGTAATTATGATCATTATGTTGATATTTTAGTCAGGGTTTTAAATGCACATTTATTCCAAGTATCTTTGTGTTTTC
TCTTTAATATTTAAACTTATTCTCTCTGTGAGTATATAAGTAGACTGGAGGGACATCCAGATGTCCAGTTTTGTCAGGCAAAAAAAAAAA
GGAAAGACTTAGGAAGTAGGAAAATTGTTTCTGTCATCTCTATCCCAACAAGAGACGTCAAGAAAGATCCACCACAGAACAAAAGTTTAA
AGAAGAATCAAAGCCTTGATTGGGCTTCTGACAACATGGTCACCATCAAGGTTGTCATTTTCTAGATCCCAGAGGCCTGGGATGCGACGT
CAGGTGGCATCTCATGGGCTCGGGGAATGTCGAGTCACTGACTGTCCAGCCCTTAGCCAGCTTCTCTCCCACATCCTCAGAGCTCTCCTG
TGCTTCTGAAATCTGTTAACTAAATCTTTGGCTTGCCTCTGGTATTTAAGCAAGAAAATTCCCTCCCAGAGGTGACCCCATCCGCTTCCC
CACAATCCATCCTTTTGCCATCGGCGCACCTGGGGCGTGGCTTAGGTTCTTCAATGCAGGGACATTTGCCCCCTCCCAGAAGCTGCTGGG
CACAGTGAGGTGGCGTAAGAGTGACTGGCAGGTGGTACCTTCCCCAGGAAATTTCACCACACCACCCAGTTCCTCAGCCTGCCCCCTCCC
CCTGTGATGCATGCCCCCAGCACCCAATTCTAGCCAGCTGGAAGTGGGTGGAGGGACAGCAGGAGGCCAGAGAAACCCTGAACAAAGCTG
GGCGGCTGCTCAGGCATCACAGGCTGCACCCCCTCTGAAAGCATCCCCACTGGGCTCCGGCCACATCTTCAGTGCACTGTGCTGTGTGCG
CTGGGTGCTCACACGCTGTCCCCAGACCCACAAAGTGCTAGGCCCCAGTTGAAGAAAGGGGTGAAATAGCCAGCTTCACCGAAGGGAAGG
GAAGGGAAGTATTGGGCGATGCCAGCCCCACAGACGCTCAGCAAACATTAGTGCACATTCTCCTAGTCCTCACCCAATGGCCTCCTCTAC
CCCCATGCATGGAGCTGCCACATCAGAAGCCCCAAGAGAAGCTCCCTGCAGGAGAGGCCAGCTCCCTGGATGCCCAATTGCATACCTGGC
CGAATCTGCCATTGAGTCACCTTAGCAAATAGGCTGCTGTCACTAGGACCAAGCTCTCAAGCAGAGGGATGCCAACCTAGTCCTTACTTA
GCCCACGAATCATCTAGAGCATCCTCTAGTCTTTTGTGGGCTCCCTCCTTCCCATTTGAAGAGACATTGTTCAGAGGAAGAGGGGAAGAT
TTGAAATGTCAGGTCACGGAGGAGTGTTTAACTGGAGCCTGGTGAACCGCAGGGCAATTTGCTTCTGCTCACTGGGTTCTGACTGGCCCG
TCTGGACGTGGGCCCCCATGTCTCTGTGCTTAGGGCCTCTTCATGATGTTTTGGATGTTTCCAAGGGAAGTGGGTGAGCAGATCAAGGGG
TGGGAGAGTCGAGGCTTGATGCCAGTTAATACTGTGAAGTGGAGCGTGCGGTCAGTGGAATTCAGAGGAAAAAGAAGGGTTGGAGCAAAG
CGGCATTCATCTCCTGGACTGTTAGCCTTTCTAGTCTTCCTGGTGGCTGAGGTGTTCACGGGCTGGGGGAGCCAGCTGACCTTTGTCCTC
TTCAACCTAGAAGACTCAGCCCGCCCAGACACCAACGTGTGAGACGGATGGACATCAGGAAGGGAAGGGGAGATTAGCCCAACTGCTGAC
AGAACGATTTCCCTTGGTTGGACCTTGGGAATGGCAAACACTCATATTGGAACAAGCTTGGGGTGGAAGATTTAGGCCGTGTGAGCATGT
GTGAGTGAGTGGAACAAACTTTCTTGGAAACTGGAGGGAGGAGATGAGGAGGCTTCGGGAAGTATTACTGATGGCTCATGGTTGAGAGAG
CGACGTGGGGACCCAGCTCGCCCCAGCTTTTGTCCCAGGTTCTCTTTGTCTGATGCTGAGGGCAGGGTGGGGTGTGGGACCACCACTCTT
GTTGGCCTGTCAAGTAGACCCTAGGACAGAAAATGGAAAGAAGGAAATGGCTCGGTGCTCTCAACTAGCAGAGAGAATTGAGGAGAGGTA
AGGGTTCCTTCTGCAGGCCAGCCTGGGACTCCACAGCGCCAGCAGGAGTGACTTGGCCACAAGACATTCCAGCCCCAGGGACTTTGCAGG
CTTCATTCCCTGTCTGTGTCTTTTCCTTCTGGTGTGTTTTACAGACTTCTGATGGGGAAGCTTCAAACTTGAGCAGGCCAGAGATGTCCT
TACCAAATTGGAAAGGAAGGTGAAACTGTTCCTTTCTTTAGCCAAAGAACCCTTCTCAAAGACGCCTCCAGAAATGGACAAAATGGCCTT
CCCTTCGTTCCTTTCCAGGCAATAATGACATCATTAGTGATGCAATTCTATTTGTCTTTCTCTTTCCTCTCTGTCCTTTTTTTTAAAAAA
AAAAAATGCATTTATTTCAAAACTGTGCTATTCTTTTAAGAGGAGTGGAGGTGACCCCTTCGATGCTGCTGCTATCGGGAGACAAGGTGC
CATACCAATACGTGGGCTTGACTAATCCCAGGCCACCATGGGAGAGAGCAAAGCAGGGCTGCCAGGAGTTCAGTTGCATCAAGGGCGTAG
AGCACGCGGGGGCTGGGCTCGGAATAGCAGTACTTTTCCACTTTGATGCCTTAGAACTCTCACTTCTCATCTCCACAGACCAGACTCAGT
AAAATCTCAGGCCACTAGAGAATGGAAGGCGGTGAAACAGGATTTAAATGCAAAAAAAACCTATTGGAGGCTTTTGGCACCGTGGCTCAC
TAGAGGGACCCAGCATAGTAGAGGTTTCTCTTGTTGCAGCTTCTGAAAAGTTCAAAAAAGAACTCCAGGCCGTTCTTCCCTCAAACCCAG
TGAGAGTTTGCAGAGAAGTGCCCCCTGCAGGGCTCCCGTCCCAGAACACCAGCACCAGAGAGGGTCTTCCCGATGCCCCCCGCTGGACTT
GCCCAAGCCTCTGGGAGCCCCTCATCTCAGATCCCTGTGTTGAACATGACACTGACTGTCCCTTATTTGTTAAAATTTGCAATATCTCTC
AAGTAAATAATAGCCAACATTTGTTGAATGCTTTCATGACTCCCGGGCTAAGGCCTTTATGAGCGTTGTCTCAAGGGGCCCCAACAGCCA
TCCCACAGGGAGGGGGATAACAGCCCCCATTTATAGATAAGGGAGCTGACCGGATGCTCTGAGAAGTGGCAGGTGTTGAAGGAAGGATAA
AGCAGTGATGGGCCAGAATCCCCAAGGTTCCCTTTTTTGTTCATCAGGCCCTTCCTGAGATGTGATTTTTAATCTTTTAACTTTTTTTAA
TTAATAGCAATGCGTGGCCTCATATTTCTATGAACCATTTAGTGATACTCCCGCTTCCTGCATGCCACACACTGTGCTGGGAATTGCTCA
TGGGTTGTCCTGTTTCATCTTCTCCGTAGCCCTGTGAGATCGGCAATATTAGTCCCCCTACAGCCAAGGAAACTGCCCAGAGCCACACAA
CTCTTGAGGGGCGAGGAGGGCTTGAACCTGAGTCTGCCCAGCTCCAGAACTGAGCTTGCAGCCATTAGCCACAGCTGTCTCCTGCATGTC
TGAGCAAAGAAAGGCCTTTACACAGCATCACCCTGTGCCATCCCATGCACCGTGGGACTCAGCTAAAGGACTGTGCAAAGAGGGGGCTCC
TGAGTTGGATTTAGGCAAAAGGGGCAGAATTCGTTTGATTTTTAGAGAAAATCTCTGGAGAGTTTCTTTTGATTCATAGAATTCCTTTTA
GATTTCTTTCCAGCATACCAACTAGCTTTAGTAGTGCTGCTACAACCAGCTCTTATAAGTAAGAGTGAAAAAGTATTCTTTTCTTCTTTA
AAAAATAAGTTTTTCTTGCTTATAGTTAATTCTAGAAAGGCAATACTAAAGGTATATATTTTTTTCAAAATGCTATTTTTTACTGCACTT
GATAATTATCCTGACAGCTCTGATCTCTGTAATAGATTCACTCTTCAGCTCTGGGCAGAACCAGAGGCAGGGTTCACACCAAATTTGTAA
ATACCATATGTGGGTCTGGTGTCCAGGAACTTTTTTCTTTCTGTTAAAAAAAAGAAAAAAAAAAGAAAAAAAAAAAGAAGTAGAGGTGGA
AGAAAGACAAGACTTAGAGGAACAAAAGAATGTTTTCTTTTGAGATACTCTTCTCAAAGAAATAGCAACAATTGTATAAACAGGAAAACC
AGCCAGCTTTCATGATAAAAGGAAGGCGTGTCTCTTGCCCTGGTATGAGATTAACAGAAATACAGATGCATTTTTATTTTGATTGAAAGA
TGGTGAGAATGTAGAAATGCTTAGGACTAGATTTTTAATTTTTTAAAATAACTATTATCATTTATTATGAAATATTTGTTCAGTTGTTTT
GAGTGGGTTTCTTGTTCCTTTTTTCATTTAAAACCTTCTTTGTTGACTGGCTCCAGGCTTGTTTGCCTAAATTCTTAGGTAGTTTACACA
AGTTCTAGAATCTTTTAGAACTTTAACTCCATTGGAAGCAAACCTAACTAATCGGAGTTTGAGATCCTGGTTGGTTTCAATAGGTATTCT
GGAATTCTGGCAGAACACCTAAAGATTTTTTTTTTTTTTAGAAGGTTTTAGATACATTATCTTACACAAACTGTGACCTAATGGCAATAA
TTACCTCAAATGTGGGCATTCATCCTGGTTTTAGCCTTTTTTGAAATCATGTAGCCAGCTTGATCTTGGAATTTAAAGACTATGAATTCT
CTGTGGGCTGAAAATAATGATTACTTCATACCCCCGGTCATCGTTGCTTAAGTGAATTCTGAAAATAGCTCATCTTTACAACAAAAATTA
AACCAAGGAAGAGATTATTCTTTGTGTGTTGTACTCAAATGCGATGTTCAAATGCACATGTTAAGTATATATGTTTTTAGCTACTGTAAA
ATGCTGTTAGCCTTCTAAGCTATCAAAACAGTCACATTTTAAATGAGTAAACTAAACAATTGACTGTGGATACTTAAGCATATTTCTGGC
TACGTTTTATAGTTAAAGTGTTTTATAGTTTACATTTAGACTGGTACTTTTTAAAGAAAAGTTCTGTTTATAACTGACATCCGCAAACCC
CAGTGAATGCCTCTTAGTTGGAGGTTGTGTCTCCCCCAAGGCAAGTGTGTTGTCCCAGACTCTTCTGTAGTCCAGCATGCGCACTTCCCT
CTGGATTATTACTTTCCACGTGAACTCAAGAGAACATGAAAGGCAATCCAGATGGAGGGAAAAGGTGTGAGTCCGCAGCCCGGGCCAGAT
GCGAAGGTCTCATGCGTGTCGTCTAAACACTTGTCTTCAAGGCCTTCTCTCTGACATCTTGGAAGAGTCATTGAGAACAGATAACCTGGT
TCATTGATTTTTGTCTTGATTTGAATATTTAACTTATTAATAGATCCACTGATTTCCAGGCACCAGGCAGTAGAAGAGACTGGGATTCAG
GTGACCATGAAGGCACAGCTGCTACTTCTGGGCCGGGGGTGATATTTTGATCAGCGTTTTGTAGGGGAGGACCATATACCCCTATTCCCA
TGGTCGCTGGCTGGGTTTTCCATATATCTGCTGTCATTTATTCGTTTTCCCCTTAAAAGCAAAATCAATGTAAAAGGCTATGTTTACGTT
TTACTCATTGTCCAGCTTAGACTCAAAGTCTAGTTCGGTGGGAGGGGGACCTTAGCATCCTCTCAGAGATGGTCAGGGCTGAGCAGGAGG
AGGCAGAGACAGAGGGGCAGCTCAGCCTGGTCCATTGAGACCCACTCTAAACAGACATCATATTTGGAACAAGAAGATGCTTCGAGACAG
GAATGGGCCCCACTGTCATGCAGAAACAGACTGGGGGAATGGCAGTTTCCCTGAGTCTTGGTTTCTTTTATGTTTTCTCTTGTGCCACCA
CCAAACTGCAGAGGACCTGCTGTGACCTAAAGGGCATTCCTTTAGCAGATAAGACCTTGAAAACTGCAAAACACCTGGGACCAGGGAGCT
TTTAAAAAATACAAAAAAATACCACATTTGCTTTTTCCCTGTGAACTGTATTGACAGCGTGTTCTTAGGACAGTCTTTTGGTGGAAATGT
TACTGTAAAATAGTTTTCATCTCACCCCTCCTAATCATACTCCCACTTTCCTGTTTGTGTGGTGGTGTTGCTGTTTTTTCCTTTACATGA
ATTAACCAAATGAATTTTGTGTCATTGTTTTTGGGGCTTATATTTTTAAAACATAGAAATTGCCTTTTGTTCATTTGAAAAGTAAGTATG
TTGTATCTGAAAAAGGGCTCTGCCTCTGCTCTCCCTCGCTTCCTTGTAACCAATCTCCAAACGAATCTCTCCTGGCACCGCCCCCTTCCT
TATATAGGGTCACTGTCCCCGGGGCCACCTCTGCCTCCACCCTGCTGTCACCACTGCCCTGGGCCAAGGCACCCAGGACTCCCAGAAAGC
GCGAGAGCCAGCAAGAAGGCCCCACTCAGCCTTGAGACTGGTGGTCACACCTCCCTGTCAGAGTCGCCTGCTGGGCTGAAGGGGCAATGG
ATTGTCATTGTTGAAATTGTTTGGCTCAGGTTATAAGGAGGAACTTGGGAAGTAGAAAGTGACTTGACCATGTGCATCCTTGGTAGCTTC
CTGTAACTAACAAATGGAACAGAGAGCACACCCCCGCCCCGCCCCACCCCAAGCAGATGTTCCCGTCAGCGCTGCCCTGAGTCAGTCGGT
CCCCCGTTTCTGCTCTCCTCCCTTTTGTGTTCCTGCTCACTTCAAGCTTCTTCCATGGACTTTCCAGGGCACAGTCATCTCTAGCCCCCA
AATCATCTCTTCATCCTCTGTGTGTGCATTTTTTTAACCAAATGAAATAGACAAGAAAGTCATACTTTGGGGCAGCAGAATTTCTAATTT
AGTAGAATCACTGTATAGAGATAGATGTTGATATATATGTTTGTGTATATATATCAAACCAAATTGGATAGGAGAAGTATAGCTTTACAG
ATGAGGAGAAGGAGCTCTTTAGAGGTCGGAGTCAAGACTGGTGTCTTGGACGTGCATGGGCTGTGTCCCAGGCCACTCCGCACACATGGG
GCTGAGGCGTGGCGCCGGGCCCTTGTCATCCACCTCACCACGGCAGAGCCAGCAGGCCCTGTAGGGTGCTGCTGCTGTCTCACTGGGTCC
CAGCTTCAAGCGCATCAGTGGGTGACGGGGGCAACAAATCAGAGTGACTGGAAGTTTCCATCCCGTTTTGCTTTGACCACGTGTACTGAG
CTGCAGCCTCTGATACTCTGTCACGTTTCCAAAAATGGTATCCATTAGGATAGAAAGAGAATGGATCTGCAGAAATGTTTACCTTTCAAC
TGCTCATGAATTCAGGACACTGGATAGAAAGACTCACTCCCCAAAATGAGAACAGGGAAGAGGAGACCCGGCGACACTAAGTCACCAGGT
CCAAGGAACGTGGCTCCCTCCCCAGGGTCATCTCACCTAGATCTTTCTCTCCCAGGTCATCTCAGCTCAATCTCAATAACCCTATGAAAG
CCCTGGTCTGTTGTGTTCCTTCACCGTACGGTTTCTGTAATAAAAAGTGTTAATCCATGTTAATCTGTGTGAAAATTATTGCGTGCAACA
GTATTTTCTCGTGTACCTCTTTTTCCTATGTGAATTGTCCCTCTTTTTTATTTATAAATGTCTACTTTTGTTTTTTTAAAGACAAACCAA
TGTGTTGTAGACCTATATGTAACCTATTCCTTAGTCTCATATTATAGGTATGTTATAAGAATGGATATTTTACTTGGCTTTAGAATGTTT
TACAAGAAAACTAATTCTTAACTGATCAAGTCCTTGCTACTAAAATGCTTGTGTTTTTCATCATGACGTCGTGTGCTTCTAAATTAATCA
TTTTCGTTGTAGAAAAATGGAGTGAATTTATATTAGTCTTGGAAACTAATAATAGCATTGTAAATTTATGAGATGATTTTAACAGAAAAA
ATATAGAAGAATATAGTTATTTTAATTGTAATATTACTAACTGTAGGGTGAGAAAAAGGGGGGGGGGTCCCATTGTGGTGAACTATGTTA
TAGCTTGTTACTCATAGTTTCTTTTTGATCATTTTTTCGGTCTCCGAGGTGAAATGACTTATTAATTAAAATTTGTAAACTCACATATGC

>In-frame_MFSD8_ENST00000296468_chr4_128870959_-_HIPK2_ENST00000428878_chr7_139305309_-_2521nt
AGGTTACAAGCAGCAGATCCCACCTTCAGTCCTGGCTCTGACAAGCCCTCCAGCTTCACGCCACCCGGGATGGGAGAAAGCAGGTGTCGC
GAGAGTTGGGCGCAAGACGCCTTGTAGGGAGTGTAACTATGGCCGGCCTGCGGAACGAAAGTGAACAGGAGCCGCTCTTAGGCGACACAC
CTGGAAGCAGAGAATGGGACATTTTAGAGACTGAAGAGCATTATAAGAGCCGATGGAGATCTATTAGGATTTTATATCTTACTATGTTTC
TCAGCAGTGTAGGGTTTTCTGTAGTGATGATGTCCATATGGCCATATCTCCAAAAGCGTCAAATCATGTTTCCAGAACATGGAGATCTGC
AAGCGTCGGGTGAATATGTATGACACGGTGAACCAGAGCAAAACCCCTTTCATCACGCACGTGGCCCCCAGCACGTCCACCAACCTGACC
ATGACCTTTAACAACCAGCTGACCACTGTCCACAACCAGCCCTCAGCGGCATCCATGGCTGCAGTGGCCCAGCGGAGCATGCCCCTGCAG
ACAGGAACAGCCCAGATTTGTGCCCGGCCTGACCCGTTCCAGCAAGCTCTCATCGTGTGTCCCCCCGGCTTCCAAGGCTTGCAGGCCTCT
CCCTCTAAGCACGCTGGCTACTCGGTGCGAATGGAAAATGCAGTTCCCATCGTCACTCAAGCCCCAGGAGCTCAGCCTCTTCAGATCCAA
CCAGGTCTGCTTGCCCAGCAGGCTTGGCCAAGTGGGACCCAGCAGATCCTGCTTCCCCCAGCATGGCAGCAACTGACTGGAGTGGCCACC
CACACATCAGTGCAGCATGCCACCGTGATTCCCGAGACCATGGCAGGCACCCAGCAGCTGGCGGACTGGAGAAATACGCATGCTCACGGA
AGCCATTATAATCCCATCATGCAGCAGCCTGCACTATTGACCGGTCATGTGACCCTTCCAGCAGCACAGCCCTTAAATGTGGGTGTGGCC
CACGTGATGCGGCAGCAGCCAACCAGCACCACCTCCTCCCGGAAGAGTAAGCAGCACCAGTCATCTGTGAGAAATGTCTCCACCTGTGAG
GTGTCCTCCTCTCAGGCCATCAGCTCCCCACAGCGATCCAAGCGTGTCAAGGAGAACACACCTCCCCGCTGTGCCATGGTGCACAGTAGC
CCGGCCTGCAGCACCTCGGTCACCTGTGGGTGGGGCGACGTGGCCTCCAGCACCACCCGGGAACGGCAGCGGCAGACAATTGTCATTCCC
GACACTCCCAGCCCCACGGTCAGCGTCATCACCATCAGCAGTGACACGGACGAGGAGGAGGAACAGAAACACGCCCCCACCAGCACTGTC
TCCAAGCAAAGAAAAAACGTCATCAGCTGTGTCACAGTCCACGACTCCCCCTACTCCGACTCCTCCAGCAACACCAGCCCCTACTCCGTG
CAGCAGCGTGCTGGGCACAACAATGCCAATGCCTTTGACACCAAGGGGAGCCTGGAGAATCACTGCACGGGGAACCCCCGAACCATCATC
GTGCCACCCCTGAAAACCCAGGCCAGCGAAGTATTGGTGGAGTGTGATAGCCTGGTGCCAGTCAACACCAGTCACCACTCGTCCTCCTAC
AAGTCCAAGTCCTCCAGCAACGTGACCTCCACCAGCGGTCACTCTTCAGGGAGCTCATCTGGAGCCATCACCTACCGGCAGCAGCGGCCG
GGCCCCCACTTCCAGCAGCAGCAGCCACTCAATCTCAGCCAGGCTCAGCAGCACATCACCACGGACCGCACTGGGAGCCACCGAAGGCAG
CAGGCCTACATCACTCCCACCATGGCCCAGGCTCCGTACTCCTTCCCGCACAACAGCCCCAGCCACGGCACTGTGCACCCGCATCTGGCT
GCAGCCGCTGCCGCTGCCCACCTCCCCACCCAGCCCCACCTCTACACCTACACTGCGCCGGCGGCCCTGGGCTCCACCGGCACCGTGGCC
CACCTGGTGGCCTCGCAAGGCTCTGCGCGCCACACCGTGCAGCACACTGCCTACCCAGCCAGCATCGTCCACCAGGTCCCCGTGAGCATG
GGCCCCCGGGTCCTGCCCTCGCCCACCATCCACCCGAGTCAGTATCCAGCCCAATTTGCCCACCAGACCTACATCAGCGCCTCGCCAGCC
TCCACCGTCTACACTGGATACCCACTGAGCCCCGCCAAGGTCAACCAGTACCCTTACATATAAACACTGGAGGGGAGGGAGGGAGGGAGG
GAGGGAGAGAATGGCCCGAGGGAGGAGGGAGAGAAGGAGGGAGGCGCTCCTGGGACCGTGGGCGCTGGCCTTTTATACTGAAGATGCCGC
ACACAAACAATGCAAACGGGGCAGGGGCGGGGGGGGGGGGGGGGGCAGAGGGCAGGGGGACGGGTCGGGACACCAGTGAAACTTGAACCG
GGAAGTGGGAGGACGTAGAGCAGAGAAGAGAACATTTTTAAAAGGAAGGGATTAAAGAGGGTGGGAAATCTATGGTTTTTATTTTAAAAA

>In-frame_MFSD8_ENST00000296468_chr4_128870959_-_HIPK2_ENST00000342645_chr7_139305309_-_1464nt
AGGTTACAAGCAGCAGATCCCACCTTCAGTCCTGGCTCTGACAAGCCCTCCAGCTTCACGCCACCCGGGATGGGAGAAAGCAGGTGTCGC
GAGAGTTGGGCGCAAGACGCCTTGTAGGGAGTGTAACTATGGCCGGCCTGCGGAACGAAAGTGAACAGGAGCCGCTCTTAGGCGACACAC
CTGGAAGCAGAGAATGGGACATTTTAGAGACTGAAGAGCATTATAAGAGCCGATGGAGATCTATTAGGATTTTATATCTTACTATGTTTC
TCAGCAGTGTAGGGTTTTCTGTAGTGATGATGTCCATATGGCCATATCTCCAAAAGCGTCAAATCATGTTTCCAGAACATGGAGATCTGC
AAGCGTCGGGTGAATATGTATGACACGGTGAACCAGAGCAAAACCCCTTTCATCACGCACGTGGCCCCCAGCACGTCCACCAACCTGACC
ATGACCTTTAACAACCAGCTGACCACTGTCCACAACCAGGCTCCCTCCTCTACCAGTGCCACTATTTCCTTAGCCAATCCCGAAGTCTCC
ATACTAAACTACCCATCTACACTCTACCAGCCCTCAGCGGCATCCATGGCTGCAGTGGCCCAGCGGAGCATGCCCCTGCAGACAGGAACA
GCCCAGATTTGTGCCCGGCCTGACCCGTTCCAGCAAGCTCTCATCGTGTGTCCCCCCGGCTTCCAAGGCTTGCAGGCCTCTCCCTCTAAG
CACGCTGGCTACTCGGTGCGAATGGAAAATGCAGTTCCCATCGTCACTCAAGCCCCAGGAGCTCAGCCTCTTCAGATCCAACCAGGTCTG
CTTGCCCAGCAGGCTTGGCCAAGTGGGACCCAGCAGATCCTGCTTCCCCCAGCATGGCAGCAACTGACTGGAGTGGCCACCCACACATCA
GTGCAGCATGCCACCGTGATTCCCGAGACCATGGCAGGCACCCAGCAGCTGGCGGACTGGAGAAATACGCATGCTCACGGAAGCCATTAT
AATCCCATCATGCAGCAGCCTGCACTATTGACCGGTCATGTGACCCTTCCAGCAGCACAGCCCTTAAATGTGGGTGTGGCCCACGTGATG
CGGCAGCAGCCAACCAGCACCACCTCCTCCCGGAAGAGTAAGCAGCACCAGTCATCTCAAAGAAAAAACGTCATCAGCTGTGTCACAGTC
CACGACTCCCCCTACTCCGACTCCTCCAGCAACACCAGCCCCTACTCCGTGCAGCAGCGTGCTGGGCACAACAATGCCAATGCCTTTGAC
ACCAAGGGGAGCCTGGAGAATCACTGCACGGGGAACCCCCGAACCATCATCGTGCCACCCCTGAAAACCCAGGCCAGCGAAGTATTGGTG
GAGTGTGATAGCCTGGTGCCAGGTAATTTGGGGCCAGGACAGGGCAGGAACCTCTCCCTGGAGAGTGGTTTTCCTGCTTTTCTGCTGCTA


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FusionGenePPI for MFSD8_HIPK2


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
MFSD8HLA-DQA1, ASGR2, P2RY12, ZACN, LPAR1, EPHX1, TPRA1, CYB5R1, FPR2, CD97, PTPRN, TNFSF8, SLC22A9, PTGIR, IPPK, GPR114, SLC22A16, C3AR1, EBP, DNAJC19, GPR21, YIPF3HIPK2DAXX, SP100, UBE2I, SUMO1, SKI, SMAD1, SMAD2, SMAD3, TP53INP1, TP53, CREBBP, RANBP9, NKX2-1, TRADD, TP73, TP63, FBXW7, BTRC, CUL1, MYB, RUNX1, EP300, HIPK2, NLK, MAP3K7, MYBL1, MYBL2, WSB1, SIAH1P1, SIAH1, SIAH2, CXCL1, AXIN1, HIST2H2BE, SENP2, SENP1, FBXO3, PML, CBX4, PAX6, CHMP4B, DCAF7, DYRK1A, DYRK1B, MAP3K1, MDM2, ZBTB4, MECP2, MBP, MKNK1, AATF, XAF1, SUMO2, SUMO3, RGMA, ABL1, PARP1, HSPA1A, STUB1, LZTS2, ACTBL2, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515935_10495391199AXIN1
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515935_10495391172AXIN1
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515774_8765391199CTBP1
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515774_8765391172CTBP1
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515787_8975391199HMGA1
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515787_8975391172HMGA1
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515752_8975391199POU4F1
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515752_8975391172POU4F1
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515539_8445391199SKI and SMAD1
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515539_8445391172SKI and SMAD1
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515846_9415391199TP53 and TP73
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515846_9415391172TP53 and TP73
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515873_9075391199UBE2I
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515873_9075391172UBE2I


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneHIPK2chr4:128870959chr7:139305309ENST00000406875-515189_5205391199DAXX
TgeneHIPK2chr4:128870959chr7:139305309ENST00000428878-515189_5205391172DAXX


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for MFSD8_HIPK2


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 MFSD8_HIPK2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMFSD8C1838571Ceroid Lipofuscinosis, Neuronal, 77CTD_human;ORPHANET;UNIPROT
HgeneMFSD8C4015371MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT1UNIPROT