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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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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 12429

FusionGeneSummary for FAF1_HOOK1

check button Fusion gene summary
Fusion gene informationFusion gene name: FAF1_HOOK1
Fusion gene ID: 12429
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 date2018052220180523
UniProtAcc

Q9UNN5

Q9UJC3

Ensembl transtripts involved in fusion geneENST00000396153, ENST00000371778, 
ENST00000545823, ENST00000472808, 
ENST00000371208, ENST00000465876, 
ENST00000395561, 
Fusion gene scores* DoF score15 X 10 X 8=12003 X 4 X 3=36
# samples 214
** MAII scorelog2(21/1200*10)=-2.51457317282976
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*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]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneFAF1

GO:0010942

positive regulation of cell death

15596450


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
TCGARVBRCATCGA-EW-A3U0-01AFAF1chr1

51210356

-HOOK1chr1

60330304

+
* 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-frameENST00000396153ENST00000371208FAF1chr1

51210356

-HOOK1chr1

60330304

+
5CDS-intronENST00000396153ENST00000465876FAF1chr1

51210356

-HOOK1chr1

60330304

+
5CDS-intronENST00000396153ENST00000395561FAF1chr1

51210356

-HOOK1chr1

60330304

+
Frame-shiftENST00000371778ENST00000371208FAF1chr1

51210356

-HOOK1chr1

60330304

+
5CDS-intronENST00000371778ENST00000465876FAF1chr1

51210356

-HOOK1chr1

60330304

+
5CDS-intronENST00000371778ENST00000395561FAF1chr1

51210356

-HOOK1chr1

60330304

+
intron-3CDSENST00000545823ENST00000371208FAF1chr1

51210356

-HOOK1chr1

60330304

+
intron-intronENST00000545823ENST00000465876FAF1chr1

51210356

-HOOK1chr1

60330304

+
intron-intronENST00000545823ENST00000395561FAF1chr1

51210356

-HOOK1chr1

60330304

+
intron-3CDSENST00000472808ENST00000371208FAF1chr1

51210356

-HOOK1chr1

60330304

+
intron-intronENST00000472808ENST00000465876FAF1chr1

51210356

-HOOK1chr1

60330304

+
intron-intronENST00000472808ENST00000395561FAF1chr1

51210356

-HOOK1chr1

60330304

+

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FusionProtFeatures for FAF1_HOOK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FAF1

Q9UNN5

HOOK1

Q9UJC3

Ubiquitin-binding protein (PubMed:19722279). Requiredfor the progression of DNA replication forks by targeting DNAreplication licensing factor CDT1 for degradation(PubMed:26842564). Potentiates but cannot initiate FAS-inducedapoptosis (By similarity). {ECO:0000250|UniProtKB:P54731,ECO:0000269|PubMed:19722279, ECO:0000269|PubMed:26842564}. Required for spermatid differentiation. Probablyinvolved in the positioning of the microtubules of the manchetteand the flagellum in relation to the membrane skeleton (Bysimilarity). Component of the FTS/Hook/FHIP complex (FHF complex).The FHF complex may function to promote vesicle trafficking and/orfusion via the homotypic vesicular protein sorting complex (theHOPS 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_57153651DomainUBA
HgeneFAF1chr1:51210356chr1:60330304ENST00000396153-5191_57153651DomainUBA

- In-frame and not-retained protein feature among the 13 regional features.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFAF1chr1:51210356chr1:60330304ENST00000371778-620569_646153651DomainUBX
HgeneFAF1chr1:51210356chr1:60330304ENST00000396153-519569_646153651DomainUBX
TgeneHOOK1chr1:51210356chr1:60330304ENST00000371208+1522169_434542729Coiled coilOntology_term=ECO:0000255
TgeneHOOK1chr1:51210356chr1:60330304ENST00000371208+1522477_658542729Coiled coilOntology_term=ECO:0000255
TgeneHOOK1chr1:51210356chr1:60330304ENST00000371208+152212_128542729DomainCalponin-homology (CH)


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FusionGeneSequence for FAF1_HOOK1


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_FAF1_ENST00000396153_chr1_51210356_-_HOOK1_ENST00000371208_chr1_60330304_+_340aa
MASNMDREMILADFQACTGIENIDEAITLLEQNNWDLVAAINGVIPQENGILQSEYGGETIPGPAFNPASHPASAPTSSSSSAFRPVMPS
RQIVERQPRMLDFRVEYRDRNVDVVLEDTCTVGEIKQILENELQIPVSKMLLKGWKTGDVEDSSSKLKQKLEAHMEKLTEVHEELQKKQE
LIEDLQPDINQNVQKINELEAALQKKDEDMKAMEERYKMYLEKARNVIKTLDPKLNPASAEIMLLRKQLAEKERRIEILESECKVAKFRD


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_FAF1_ENST00000396153_chr1_51210356_-_HOOK1_ENST00000371208_chr1_60330304_+_1020nt
ATGGCGTCCAACATGGACCGGGAGATGATCCTGGCGGATTTTCAGGCATGTACTGGCATTGAAAACATTGACGAAGCTATTACATTGCTT
GAACAAAATAATTGGGACTTAGTGGCAGCTATCAATGGTGTAATACCACAGGAAAATGGCATTCTACAAAGTGAATATGGAGGTGAGACC
ATACCAGGACCTGCATTTAATCCAGCAAGTCATCCAGCTTCAGCTCCTACTTCCTCTTCTTCTTCAGCGTTTCGACCTGTAATGCCATCC
AGGCAGATTGTAGAAAGGCAACCTCGGATGCTGGACTTCAGGGTTGAATACAGAGACAGAAATGTTGATGTGGTACTTGAAGACACCTGT
ACTGTTGGAGAGATTAAACAGATTCTAGAAAATGAACTTCAGATACCTGTGTCCAAAATGCTGTTAAAAGGCTGGAAGACGGGAGATGTG
GAAGACAGTTCCAGCAAATTAAAGCAGAAGTTGGAAGCTCATATGGAAAAACTCACAGAGGTCCATGAAGAATTACAGAAGAAACAAGAA
CTCATTGAAGATCTTCAGCCAGATATAAATCAAAATGTACAAAAGATCAATGAACTTGAAGCTGCTCTTCAGAAGAAAGATGAAGATATG
AAAGCAATGGAGGAAAGATATAAAATGTACTTGGAGAAAGCCAGAAATGTAATAAAAACTTTGGATCCCAAGTTAAATCCAGCATCAGCT
GAAATAATGCTACTAAGAAAGCAGTTGGCAGAGAAAGAGAGAAGAATTGAGATTCTGGAGAGTGAATGCAAAGTAGCAAAATTCCGTGAT
TATGAAGAAAAACTCATTGTTTCTGCGTGGTATAATAAGAGTCTAGCATTCCAGAAACTGGGGATGGAATCTAGACTTGTGAGCGGCGGT
GGTGCCTGCAGTGACACTGGTGCGTGCACTCCTGCGCGGTCTTTCTTAGCGCAGCAACGGCACATCACCAACACCAGAAGAAATCTCTCT


* Fusion transcript sequences (Full-length transcript).
>In-frame_FAF1_ENST00000396153_chr1_51210356_-_HOOK1_ENST00000371208_chr1_60330304_+_4885nt
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


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FusionGenePPI 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
FAF1ASCC2, FAS, CSNK2B, G3BP1, RAE1, CASP8, CTNNB1, VCP, NPLOC4, UFD1L, CUL1, CUL2, CUL3, UBR1, HIF1A, ALPP, VCPIP1, SKP1, FBXW11, KLHL22, KBTBD7, WDR26, AMFR, UBR2, UBR4, PJA2, CDC73, TAF1D, RAP1B, UROD, TK1, ANXA1, DNAJB11, CDKN1A, TNNT1, SIRT6, HSD17B10, RCC1, NR1H2, ANXA7, TSC22D1, NR4A1, ITGB1BP1, IGF2, RAD23A, BTRC, NGLY1, UBC, HSPA4, RELA, HSPA8, FADD, IKBKB, NLRP3, NLRP2, NLRP7, NLRP12, NUDT21, SKIL, CARM1, CARS, FAM114A1, FARSB, GART, HIRIP3, HIST1H4A, HSPH1, ILK, PLOD2, PPM1G, PPP2R5C, PRMT3, PUF60, RANBP3, RPL24, SAMHD1, SEC23A, SET, SF1, SWAP70, TLN1, TROVE2, UGP2, XPO7, VAPA, VAPB, UBL4A, ASNA1, GET4, BAG6, RPN2, DDOST, FAF1, CD40, MAGIX, TCEAL1, CBX3, DNAJA1, ZC3H15, NTRK1, RAP1A, CDT1, IPO5, WDR24, YTHDF1, CDC5L, KCTD10, YTHDF3, WDR59, MMAB, NUP98, MYCBP2, USP11, NSFL1C, UBXN7, UBXN1, ASPSCR1, HSPA2, MIOS, UBXN6, BTBD9, KCTD13, TNFAIP1, UBXN2B, BHLHA15, CHCHD10, CLEC3A, PRCC, TRIM25, XIAPHOOK1ZNF250, AKTIP, CDC5L, HOOK2, HOOK3, HOOK1, FAM160A2, VPS16, VPS18, VPS39, VPS41, VCP, CDK4, LMO2, USP2, TFIP11, TBC1D7, SYCE1, ZNF785, LRRC29, TRAK2, TNFSF13B, RABGGTB, HERC2, AARSD1, SELENBP1, NCAPH2, CDC16, C6orf141, ALOXE3, CRYL1, TRIP11


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 FAF1_HOOK1


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 FAF1_HOOK1


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