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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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Related Drugs

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Related Diseases

Fusion gene:FAF1-HOOK1 (FusionGDB2 ID:28237)

Fusion Gene Summary for FAF1-HOOK1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAF1-HOOK1
Fusion gene ID: 28237
HgeneTgene
Gene symbol

FAF1

HOOK1

Gene ID

11124

51361

Gene nameFas associated factor 1hook microtubule tethering protein 1
SynonymsCGI-03|HFAF1s|UBXD12|UBXN3A|hFAF1HK1
Cytomap

1p32.3

1p32.1

Type of geneprotein-codingprotein-coding
DescriptionFAS-associated factor 1Fas (TNFRSF6) associated factor 1TNFRSF6-associated factor 1UBX domain protein 3AUBX domain-containing protein 12UBX domain-containing protein 3Aprotein Hook homolog 1h-hook1hHK1hook homolog 1
Modification date2020031320200313
UniProtAcc

Q9UNN5

Q9UJC3

Ensembl transtripts involved in fusion geneENST00000371778, ENST00000396153, 
ENST00000472808, ENST00000545823, 
ENST00000395561, ENST00000465876, 
ENST00000371208, 
Fusion gene scores* DoF score23 X 21 X 9=43473 X 5 X 3=45
# samples 315
** MAII scorelog2(31/4347*10)=-3.80967997500385
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FAF1 [Title/Abstract] AND HOOK1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointFAF1(51210356)-HOOK1(60330304), # samples:1
Anticipated loss of major functional domain due to fusion event.FAF1-HOOK1 seems lost the major protein functional domain in Hgene 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
HgeneFAF1

GO:0010942

positive regulation of cell death

15596450


check buttonFusion gene breakpoints across FAF1 (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 HOOK1 (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 from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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-EW-A3U0-01AFAF1chr1

51210356

-HOOK1chr1

60330304

+


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Fusion Gene ORF analysis for FAF1-HOOK1

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-intronENST00000371778ENST00000395561FAF1chr1

51210356

-HOOK1chr1

60330304

+
5CDS-intronENST00000371778ENST00000465876FAF1chr1

51210356

-HOOK1chr1

60330304

+
5CDS-intronENST00000396153ENST00000395561FAF1chr1

51210356

-HOOK1chr1

60330304

+
5CDS-intronENST00000396153ENST00000465876FAF1chr1

51210356

-HOOK1chr1

60330304

+
Frame-shiftENST00000371778ENST00000371208FAF1chr1

51210356

-HOOK1chr1

60330304

+
In-frameENST00000396153ENST00000371208FAF1chr1

51210356

-HOOK1chr1

60330304

+
intron-3CDSENST00000472808ENST00000371208FAF1chr1

51210356

-HOOK1chr1

60330304

+
intron-3CDSENST00000545823ENST00000371208FAF1chr1

51210356

-HOOK1chr1

60330304

+
intron-intronENST00000472808ENST00000395561FAF1chr1

51210356

-HOOK1chr1

60330304

+
intron-intronENST00000472808ENST00000465876FAF1chr1

51210356

-HOOK1chr1

60330304

+
intron-intronENST00000545823ENST00000395561FAF1chr1

51210356

-HOOK1chr1

60330304

+
intron-intronENST00000545823ENST00000465876FAF1chr1

51210356

-HOOK1chr1

60330304

+

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)
ENST00000396153FAF1chr151210356-ENST00000371208HOOK1chr160330304+48859111401471443

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
ENST00000396153ENST00000371208FAF1chr151210356-HOOK1chr160330304+0.0001376260.9998623

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Fusion Genomic Features for FAF1-HOOK1


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)
FAF1chr151210355-HOOK1chr160330303+0.0012435230.9987565
FAF1chr151210355-HOOK1chr160330303+0.0012435230.9987565

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

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for FAF1-HOOK1


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/chr1:51210356/chr1:60330304)
- 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
FAF1

Q9UNN5

HOOK1

Q9UJC3

FUNCTION: Ubiquitin-binding protein (PubMed:19722279). Required for the progression of DNA replication forks by targeting DNA replication licensing factor CDT1 for degradation (PubMed:26842564). Potentiates but cannot initiate FAS-induced apoptosis (By similarity). {ECO:0000250|UniProtKB:P54731, ECO:0000269|PubMed:19722279, ECO:0000269|PubMed:26842564}.FUNCTION: Required for spermatid differentiation. Probably involved in the positioning of the microtubules of the manchette and the flagellum in relation to the membrane skeleton (By similarity). Component of the FTS/Hook/FHIP complex (FHF complex). The FHF complex may function to promote vesicle trafficking and/or fusion via the homotypic vesicular protein sorting complex (the HOPS complex) (PubMed:18799622). {ECO:0000250|UniProtKB:Q8BIL5, ECO:0000269|PubMed:18799622}.

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
HgeneFAF1chr1:51210356chr1:60330304ENST00000371778-6201_57153651.0DomainUBA
HgeneFAF1chr1:51210356chr1:60330304ENST00000396153-5191_57153651.0DomainUBA

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFAF1chr1:51210356chr1:60330304ENST00000371778-620569_646153651.0DomainUBX
HgeneFAF1chr1:51210356chr1:60330304ENST00000396153-519569_646153651.0DomainUBX
TgeneHOOK1chr1:51210356chr1:60330304ENST000003712081522169_434542729.0Coiled coilOntology_term=ECO:0000255
TgeneHOOK1chr1:51210356chr1:60330304ENST000003712081522477_658542729.0Coiled coilOntology_term=ECO:0000255
TgeneHOOK1chr1:51210356chr1:60330304ENST00000371208152212_128542729.0DomainCalponin-homology (CH)


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Fusion Gene Sequence for FAF1-HOOK1


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.
>28237_28237_1_FAF1-HOOK1_FAF1_chr1_51210356_ENST00000396153_HOOK1_chr1_60330304_ENST00000371208_length(transcript)=4885nt_BP=911nt
AGGGGCGGAGGCGGCGGCCAGGGAGGAAGCGGAGGAGGCGGAGGCGGCCGCGGCGTTCGCCCGCCCGCTCGCTCGCTCGGTTTCCCCGCC
CCCGCCGGGCTTAACGCCGCTGAAGGTATCCGGGTGCGCGCTGTCGCAACCTGCCCTCATCCTGGCCCGCGACTGTAAGACCGGACCCAC
ATCCAGACCAATCTTCCTGTCCGGGCTGCTGCGACGCGGGCTCCGCAGGTTGCAGGCGGGCGGCCGGGGCGCCTGAAGGTTACCGAGTGC
ATGAGCGCCTAGCGCTTCCCGCGCTGCCCCGCCCGCTGGCCCGCCGACCCGCCCGCCGGCTCGCCCGCCAGCCCCTCGGCGCCCGGCGGC
GGCGGCGGCGGTGGCGGCGACGGTCGCAGGAGGTGCCGTCTGCCTCCCAGGTGCGCGCTTCGCTCCCGGAGCCGCGGAACTCGGCGGCCG
CCATGGCGTCCAACATGGACCGGGAGATGATCCTGGCGGATTTTCAGGCATGTACTGGCATTGAAAACATTGACGAAGCTATTACATTGC
TTGAACAAAATAATTGGGACTTAGTGGCAGCTATCAATGGTGTAATACCACAGGAAAATGGCATTCTACAAAGTGAATATGGAGGTGAGA
CCATACCAGGACCTGCATTTAATCCAGCAAGTCATCCAGCTTCAGCTCCTACTTCCTCTTCTTCTTCAGCGTTTCGACCTGTAATGCCAT
CCAGGCAGATTGTAGAAAGGCAACCTCGGATGCTGGACTTCAGGGTTGAATACAGAGACAGAAATGTTGATGTGGTACTTGAAGACACCT
GTACTGTTGGAGAGATTAAACAGATTCTAGAAAATGAACTTCAGATACCTGTGTCCAAAATGCTGTTAAAAGGCTGGAAGACGGGAGATG
TGGAAGACAGTTCCAGCAAATTAAAGCAGAAGTTGGAAGCTCATATGGAAAAACTCACAGAGGTCCATGAAGAATTACAGAAGAAACAAG
AACTCATTGAAGATCTTCAGCCAGATATAAATCAAAATGTACAAAAGATCAATGAACTTGAAGCTGCTCTTCAGAAGAAAGATGAAGATA
TGAAAGCAATGGAGGAAAGATATAAAATGTACTTGGAGAAAGCCAGAAATGTAATAAAAACTTTGGATCCCAAGTTAAATCCAGCATCAG
CTGAAATAATGCTACTAAGAAAGCAGTTGGCAGAGAAAGAGAGAAGAATTGAGATTCTGGAGAGTGAATGCAAAGTAGCAAAATTCCGTG
ATTATGAAGAAAAACTCATTGTTTCTGCGTGGTATAATAAGAGTCTAGCATTCCAGAAACTGGGGATGGAATCTAGACTTGTGAGCGGCG
GTGGTGCCTGCAGTGACACTGGTGCGTGCACTCCTGCGCGGTCTTTCTTAGCGCAGCAACGGCACATCACCAACACCAGAAGAAATCTCT
CTGTTAAAGTCCCTGCTACAACATCTGATTAAACTGCAAAAAAAACAAAACAAAACAAAAAAACCACATAAAATAGAAGTGTCCTTAAAA
TATTTTGTACCTTTCAACTAACTACCAGATTGAAAAAGAGTTTATGATGCGGGATATCAGGTATTTTAAAATCAACATGCATCAAATTAA
TTTTGCCAGTTGACTTTAAAAACAAATTATAGAATTAGCCATCTCTCTGAGGGAGCACATTTGAATAATTGGAGATGCAGTTATACACAC
ATTTCAAACAAACATTTGTCTTTTGAGAGTATTATAATTTCAAATTGGCCTTGTATATTTTAGTTAAATGTTTTCAGTTGTATTAGTAAC
TTAATTAATTTTCAATAGCTATTCAGTAATACTTAATCTTAGAACATTAATTGGATTTGTTTAATCTTTTTTTGTTTTTTGTTGATTTAT
ATGAAAACAGTCTTGAGGCAGGGACATGGAGAACTATGCAAGGGTGATTTCTTTGACTTAATATATACAAGGCTTTACTTCTGTCCCCTA
ATTCTTCCATTGAATGTGTACCTCTACCTTGTCATGTCATGGAAGATACAACATTTGGAAGATCTGACAATTGGAATGACTTTGGAATAA
TAAAATTGACTAATTGGAAATTTTGCATATTCTGAAAATCTAATCTCATAGTTCTAATTTGTACCTATGGCAAATAAGGGCTTCTGGACA
TCATGTTTAAAATGTTAAGCATAAGAAATAAACTGACATTTGTAATAGGTGACTTTCTGATGGAAAGCAAGCTATATATATATATATATA
TATATATATATATATATATATACTTTTTGTGAAATGTCTATATACTTTTTAAGGTAATTAATGAAGATTTCAGTTATTGCTTTTAAGCAT
AAAGTTGTATTTAGCTTCTGCTGAAAAATTGTATCATATAATAATTTTGCTTCATTGAAAAGGGATGTTGCAGTGATGAAACAAGGTGGG
ATCAGTTTGATTTTGTTTACTTATTAAGGAGTTTATCTTGGGCTCAGTTTGTGGTATTCAGTTCGTTTCTGCCCAAAGCTCTTATTTTCA
GAGGTGTTACTTTTGAACTTTTGGGGTCATTTTTAAAAGTTAGCACTTTTGAATTTTAGTTGTGTTAAATATGTGCTGTCGTATATCATA
GCCATGAGCCATATATGACAATTTAAATTTAATTAATTATAAACTCAGTCTCTTGGTTGCACCAGCCACATTTCAGATGCTCAATAGCCA
CATGTGGCTAGTGGGTACCATATTGGACAGGGCAGCTATAGAATATTTCCATCATTGCAGAAAGTTCTATTGGATAGTACCATAATCTTT
TTATAGTAACTTGGAAATACTATTTGATATTAGATGTTAGACCACAAAAAGAAGAAAAATGTTAGGACTATTTCAGATATAAAAAGGAAC
TGAATTGTGACATAATTAGCATCTTACATTCCATACAGTTGAATACCTTATGCTGTGACAACCATAGTTAATCATTTCAGTGCTGTTCAA
CATACATACCTATCAGCAGTGTGTTTAGACCAGGGGTCTGCAAACTTTCTGTGAATGGACAAAGAGTAAATACTTTAGTAAATGTCTTAG
GCTTTGTGGCCTACATGATCTTTGTTGCAAGTACTCAACTCTGCCATTATAGAGTTAAAGCAGCCATACACAATATATAAACAAAATGGG
CATAGTTGTATTTCAGTAAAACTTTATTTACAAAGACAGGCGGTAGGCCAGATTTGGCTTGCATGCTGTAGAGCTGTGGTCTAAATTTTA
TTCATAGACTTTCTTTGCAAATACAGTGTGAGTATTGTTCCATTTACAGTATTATTATTTTTTAGATACCTGGTTTTTAGATTCTTGCCT
GGTAACTTTTTACTGAAAATACAAGAATTTCGTACTGCATTTGCATCTCCGAGATTAGGGAGCACCTGTCAGGATATGTTGTTCTATCAG
GGTTACTTCTGTTGACTACCTCTTAGATTTTGATACAGTTATATTGTTGAGTTTCATTTTCATATATTCTTGTAGTGTCTGCTTGCCTGT
GACTTCTGGTAAAATAAAATAAGCCTTTGAAAATATTTTAGCATGGTATTTAACATTTTCTAAATATTATGGCATTTTGACATATTTTAG
TCAGCGAAGACATCTGCCCCTTTGGTGTTTCTACTTGCTTATGATTGAGATTTTACAAGCCCTTCAAACTCCGTTTTAAAGGAATTTATT
GTAAAACATTAACTTTAATAAATTAGTGTTTTCACAGATCAGATCATTATACTTGGAACTTCTAAATCATGCAATTTCTGAATAAGGACA
TAAGGCTAGATTCATTTTTCTTAATAGAGAAAAAGGAAATTTCTGATTTATCACTTTTCTAGTTGATAAGTAGGATTCAAAACGTTTGAT
ATGTAAGTATTTATATAAGACTAATGTAATTTAAAGTTCTGTATTATTGTGATTAATCATACAGAAATTCAGGAACTGATCAGAAGTGAG
ATTCTTTTCCACATCTGGTTAATGTAGTGAGTTGACACCCTGTGGGTGGTAAAGCATTATAAACATTTCATCTTGAACCATGATTTATAC
ACATCTGTGTTATAAGGGAGGCTTGAGTACATATACCAATGAAGAGATATTCAGCATTTGTCTATTTGATAAGGAATTAAATGTCCTAGT
GATTATAAAGTAAAACCACAGACCAATTTGCAAATGATCTTCAATGTTAAGCACTTGCTCTAAGATTAAAATTCCTTTTCTTTTTAAGGT
TAAGGGTGTGTACGTATGGCAGTGATGTCTATGTTGAGATTAACTTATGTATTGAGGAAAATTTGAAGTTTATTTTTTCGATGAATAAGG
CTGTCAAATGATTTAGTATAGATTAATGACATCTTTTTTAGAAATATTAAAGTGAGTATTCCTCATTATGTCATCATTTCTGATAATTAG
AGTGCTAATTTGAATGTTAGATAATGTTTCCACATCTATACCTATTTCTTTCTAGGGCACTTCTGACCCTGGGGCTTGGGGATGGCCTTT
AGGCCACAGTAGTGTCTGTGTTAAGTTCACTAAATGTGTATTTAATGAGAAACATTCCTATGTAAAAATGTGTGTATGTGAACGTATGCA
TACATTTTTATTGTGCACCTGTACATTGTGAAGAAGTAGTTTGGAAATTTGTAAAGCACAAACCATAAAAGAGTGTGGAGTTATTAAATG
ATGTAGCACAAATGTAATGTTTAGCTTATAAAAGGTCCTTTCTATTTTCTATGGCAAAGACTTTGACACTTGAAAAATAAAACCAATATT
TGATTTATTTTTGTAAGTATTTAGGATATTATTTTAAATAAATGATTGTCCATTATCAATATAATAGTTGTGAAATGATTTAAGTAAATA

>28237_28237_1_FAF1-HOOK1_FAF1_chr1_51210356_ENST00000396153_HOOK1_chr1_60330304_ENST00000371208_length(amino acids)=443AA_BP=257
MPSSWPATVRPDPHPDQSSCPGCCDAGSAGCRRAAGAPEGYRVHERLALPALPRPLARRPARRLARQPLGARRRRRRWRRRSQEVPSASQ
VRASLPEPRNSAAAMASNMDREMILADFQACTGIENIDEAITLLEQNNWDLVAAINGVIPQENGILQSEYGGETIPGPAFNPASHPASAP
TSSSSSAFRPVMPSRQIVERQPRMLDFRVEYRDRNVDVVLEDTCTVGEIKQILENELQIPVSKMLLKGWKTGDVEDSSSKLKQKLEAHME
KLTEVHEELQKKQELIEDLQPDINQNVQKINELEAALQKKDEDMKAMEERYKMYLEKARNVIKTLDPKLNPASAEIMLLRKQLAEKERRI

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Fusion Gene PPI Analysis for FAF1-HOOK1


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 FAF1-HOOK1


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 FAF1-HOOK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource