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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: 33434

FusionGeneSummary for SF1_EHD1

check button Fusion gene summary
Fusion gene informationFusion gene name: SF1_EHD1
Fusion gene ID: 33434
HgeneTgene
Gene symbol

SF1

EHD1

Gene ID

7536

10938

Gene namesplicing factor 1EH domain containing 1
SynonymsBBP|D11S636|MBBP|ZCCHC25|ZFM1|ZNF162H-PAST|HPAST1|PAST|PAST1
Cytomap

11q13.1

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionsplicing factor 1mammalian branch point-binding proteintranscription factor ZFM1zinc finger gene in MEN1 locuszinc finger protein 162EH domain-containing protein 1PAST homolog 1testilin
Modification date2018052620180522
UniProtAcc

Q15637

Q9H4M9

Ensembl transtripts involved in fusion geneENST00000377387, ENST00000377390, 
ENST00000377394, ENST00000227503, 
ENST00000334944, ENST00000422298, 
ENST00000433274, ENST00000489544, 
ENST00000320631, ENST00000359393, 
ENST00000488711, 
Fusion gene scores* DoF score9 X 6 X 7=3783 X 2 X 3=18
# samples 93
** MAII scorelog2(9/378*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SF1 [Title/Abstract] AND EHD1 [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

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
TCGARVLUSCTCGA-43-A56U-01ASF1chr11

64543970

-EHD1chr11

64627808

-
* 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-frameENST00000377387ENST00000320631SF1chr11

64543970

-EHD1chr11

64627808

-
In-frameENST00000377387ENST00000359393SF1chr11

64543970

-EHD1chr11

64627808

-
5CDS-intronENST00000377387ENST00000488711SF1chr11

64543970

-EHD1chr11

64627808

-
In-frameENST00000377390ENST00000320631SF1chr11

64543970

-EHD1chr11

64627808

-
In-frameENST00000377390ENST00000359393SF1chr11

64543970

-EHD1chr11

64627808

-
5CDS-intronENST00000377390ENST00000488711SF1chr11

64543970

-EHD1chr11

64627808

-
In-frameENST00000377394ENST00000320631SF1chr11

64543970

-EHD1chr11

64627808

-
In-frameENST00000377394ENST00000359393SF1chr11

64543970

-EHD1chr11

64627808

-
5CDS-intronENST00000377394ENST00000488711SF1chr11

64543970

-EHD1chr11

64627808

-
In-frameENST00000227503ENST00000320631SF1chr11

64543970

-EHD1chr11

64627808

-
In-frameENST00000227503ENST00000359393SF1chr11

64543970

-EHD1chr11

64627808

-
5CDS-intronENST00000227503ENST00000488711SF1chr11

64543970

-EHD1chr11

64627808

-
In-frameENST00000334944ENST00000320631SF1chr11

64543970

-EHD1chr11

64627808

-
In-frameENST00000334944ENST00000359393SF1chr11

64543970

-EHD1chr11

64627808

-
5CDS-intronENST00000334944ENST00000488711SF1chr11

64543970

-EHD1chr11

64627808

-
5UTR-3CDSENST00000422298ENST00000320631SF1chr11

64543970

-EHD1chr11

64627808

-
5UTR-3CDSENST00000422298ENST00000359393SF1chr11

64543970

-EHD1chr11

64627808

-
5UTR-intronENST00000422298ENST00000488711SF1chr11

64543970

-EHD1chr11

64627808

-
Frame-shiftENST00000433274ENST00000320631SF1chr11

64543970

-EHD1chr11

64627808

-
Frame-shiftENST00000433274ENST00000359393SF1chr11

64543970

-EHD1chr11

64627808

-
5CDS-intronENST00000433274ENST00000488711SF1chr11

64543970

-EHD1chr11

64627808

-
intron-3CDSENST00000489544ENST00000320631SF1chr11

64543970

-EHD1chr11

64627808

-
intron-3CDSENST00000489544ENST00000359393SF1chr11

64543970

-EHD1chr11

64627808

-
intron-intronENST00000489544ENST00000488711SF1chr11

64543970

-EHD1chr11

64627808

-

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FusionProtFeatures for SF1_EHD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SF1

Q15637

EHD1

Q9H4M9

ATP- and membrane-binding protein that controls membranereorganization/tubulation upon ATP hydrolysis. In vitro causesvesiculation of endocytic membranes (PubMed:24019528). Acts inearly endocytic membrane fusion and membrane trafficking ofrecycling endosomes (PubMed:15020713, PubMed:17233914,PubMed:20801876). Recruited to endosomal membranes upon nervegrowth factor stimulation, indirectly regulates neurite outgrowth(By similarity). Plays a role in myoblast fusion (By similarity).Involved in the unidirectional retrograde dendritic transport ofendocytosed BACE1 and in efficient sorting of BACE1 to axonsimplicating a function in neuronal APP processing (By similarity).Plays a role in the formation of the ciliary vesicle (CV), anearly step in cilium biogenesis. Proposed to be required for thefusion of distal appendage vesicles (DAVs) to form the CV byrecruiting SNARE complex component SNAP29. Is required forrecruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss ofCCP110 form the mother centriole essential for the maturation ofthe basal body during ciliogenesis (PubMed:25686250).{ECO:0000250|UniProtKB:Q641Z6, ECO:0000250|UniProtKB:Q9WVK4,ECO:0000269|PubMed:15020713, ECO:0000269|PubMed:17233914,ECO:0000269|PubMed:20801876, ECO:0000269|PubMed:24019528,ECO:0000269|PubMed:25686250}.

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
HgeneSF1chr11:64543970chr11:64627808ENST00000227503-21315_1953549MotifNuclear localization signal
HgeneSF1chr11:64543970chr11:64627808ENST00000334944-21415_1953639MotifNuclear localization signal
HgeneSF1chr11:64543970chr11:64627808ENST00000377387-21315_19178674MotifNuclear localization signal
HgeneSF1chr11:64543970chr11:64627808ENST00000377390-21315_1953640MotifNuclear localization signal
HgeneSF1chr11:64543970chr11:64627808ENST00000377394-21315_1953572MotifNuclear localization signal
HgeneSF1chr11:64543970chr11:64627808ENST00000433274-21315_1927614MotifNuclear localization signal
TgeneEHD1chr11:64543970chr11:64627808ENST00000320631-15489_500167535Calcium bindingOntology_term=ECO:0000244,ECO:0000244,ECO:0000269
TgeneEHD1chr11:64543970chr11:64627808ENST00000359393-37489_500167535Calcium bindingOntology_term=ECO:0000244,ECO:0000244,ECO:0000269
TgeneEHD1chr11:64543970chr11:64627808ENST00000320631-15198_227167535Coiled coilOntology_term=ECO:0000255
TgeneEHD1chr11:64543970chr11:64627808ENST00000359393-37198_227167535Coiled coilOntology_term=ECO:0000255
TgeneEHD1chr11:64543970chr11:64627808ENST00000320631-15444_532167535DomainEH
TgeneEHD1chr11:64543970chr11:64627808ENST00000320631-15476_511167535DomainEF-hand
TgeneEHD1chr11:64543970chr11:64627808ENST00000359393-37444_532167535DomainEH
TgeneEHD1chr11:64543970chr11:64627808ENST00000359393-37476_511167535DomainEF-hand
TgeneEHD1chr11:64543970chr11:64627808ENST00000320631-15219_222167535RegionG4 motif
TgeneEHD1chr11:64543970chr11:64627808ENST00000320631-15243_243167535RegionG5 motif
TgeneEHD1chr11:64543970chr11:64627808ENST00000359393-37219_222167535RegionG4 motif
TgeneEHD1chr11:64543970chr11:64627808ENST00000359393-37243_243167535RegionG5 motif

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSF1chr11:64543970chr11:64627808ENST00000227503-213324_63753549Compositional biasNote=Pro-rich
HgeneSF1chr11:64543970chr11:64627808ENST00000334944-214324_63753639Compositional biasNote=Pro-rich
HgeneSF1chr11:64543970chr11:64627808ENST00000377387-213324_637178674Compositional biasNote=Pro-rich
HgeneSF1chr11:64543970chr11:64627808ENST00000377390-213324_63753640Compositional biasNote=Pro-rich
HgeneSF1chr11:64543970chr11:64627808ENST00000377394-213324_63753572Compositional biasNote=Pro-rich
HgeneSF1chr11:64543970chr11:64627808ENST00000433274-213324_63727614Compositional biasNote=Pro-rich
HgeneSF1chr11:64543970chr11:64627808ENST00000227503-213141_22253549DomainKH
HgeneSF1chr11:64543970chr11:64627808ENST00000334944-214141_22253639DomainKH
HgeneSF1chr11:64543970chr11:64627808ENST00000377387-213141_222178674DomainKH
HgeneSF1chr11:64543970chr11:64627808ENST00000377390-213141_22253640DomainKH
HgeneSF1chr11:64543970chr11:64627808ENST00000377394-213141_22253572DomainKH
HgeneSF1chr11:64543970chr11:64627808ENST00000433274-213141_22227614DomainKH
HgeneSF1chr11:64543970chr11:64627808ENST00000227503-213277_29653549Zinc fingerCCHC-type
HgeneSF1chr11:64543970chr11:64627808ENST00000334944-214277_29653639Zinc fingerCCHC-type
HgeneSF1chr11:64543970chr11:64627808ENST00000377387-213277_296178674Zinc fingerCCHC-type
HgeneSF1chr11:64543970chr11:64627808ENST00000377390-213277_29653640Zinc fingerCCHC-type
HgeneSF1chr11:64543970chr11:64627808ENST00000377394-213277_29653572Zinc fingerCCHC-type
HgeneSF1chr11:64543970chr11:64627808ENST00000433274-213277_29627614Zinc fingerCCHC-type
TgeneEHD1chr11:64543970chr11:64627808ENST00000320631-1555_286167535DomainDynamin-type G
TgeneEHD1chr11:64543970chr11:64627808ENST00000359393-3755_286167535DomainDynamin-type G
TgeneEHD1chr11:64543970chr11:64627808ENST00000320631-15153_156167535RegionG3 motif
TgeneEHD1chr11:64543970chr11:64627808ENST00000320631-1565_72167535RegionG1 motif
TgeneEHD1chr11:64543970chr11:64627808ENST00000320631-1591_92167535RegionG2 motif
TgeneEHD1chr11:64543970chr11:64627808ENST00000359393-37153_156167535RegionG3 motif
TgeneEHD1chr11:64543970chr11:64627808ENST00000359393-3765_72167535RegionG1 motif
TgeneEHD1chr11:64543970chr11:64627808ENST00000359393-3791_92167535RegionG2 motif


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FusionGeneSequence for SF1_EHD1


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for SF1_EHD1


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
SF1PLSCR1, TRIM23, DDX17, WWP2, RBPMS, U2AF2, EWSR1, FUS, TAF15, TCERG1, ZNF461, NCOR2, PML, PPARGC1A, NFKB1, HDAC5, HDAC4, SF3A2, CUL3, CIRBP, EFTUD2, VDAC1, MPLKIP, ZC3H11A, TMED4, TOMM40, SRPRB, VDAC3, STIM1, UBE2L3, VAMP2, TAGLN, ZFR, SORCS3, SBDS, SEPT11, SIN3A, STOM, NNT, SRP9, ATXN1, FN1, VCAM1, SF3A1, SF3B4, RBM17, RBM10, SF1, ILF3, BCAS2, WDR83, RBM7, HNRNPK, HNRNPUL1, RBM4, WDR77, HNRNPF, HNRNPH1, HNRNPH2, IL7R, METTL22, ITGA4, LMNA, ITCH, PRPF40A, WBP4, APBB1, GAS7, RANBP3, EIF4B, FAF1, FARSB, GART, GFPT1, HIRIP3, HIST1H4A, HSPH1, NARS, OSBP, PLOD2, RPL24, SAMHD1, SUPT5H, TROVE2, XPO7, XRCC5, CIAO1, PSMA3, MKRN3, FAM168A, TRIM69, KRTAP26-1, CUL7, OBSL1, CCDC8, SUZ12, EED, PRMT2, ACTL6A, ZFP41, CAB39, CCDC25, ALDOC, CNN2, HADH, HNRNPL, HSDL2, IREB2, PGK1, PLAA, PPID, TKT, UBE2N, NTRK1, NCOA1, CDC42, CSNK2A2, LLGL2, MAPK8, EMC2, RNF41, PARD6B, KLC3, NAGK, P4HA3, BCHE, CAPN13, HSPBP1, HAO2, SFPQ, FOXA1, TESEHD1AP2A1, CLTC, IGF1R, SNAP29, EHD3, EHD1, EPN1, EPN3, ANKFY1, VPS26A, MICAL1, RBSN, DGKQ, EHD4, RAB11FIP2, RAB8A, API5, ARIH2, ATE1, CTPS2, AASDHPPT, DRG2, FKBP9, PDCD10, STAT6, GTF3C4, KTN1, LIMD1, NOL3, NUBP1, PDE12, PGGT1B, PRKDC, STK39, UBA6, WARS, XPNPEP1, PLA2G4A, MICALL1, EGFR, FAM153B, FAS, TMEM25, CCNL2, SPANXN3, C19orf54, HSPB1, APOA1BP, PPP2R1A, STX12, STX7, TECR, TOMM22, WDFY1, FADD, FAM98B, OPA1, PRKRA, STXBP1, NTRK1, RAB11A, TINF2, PAPD5, SNW1, CDC5L, CDH1, TMX1, EXOC8, DLD


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 SF1_EHD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSF1Q15637DB11638ArtenimolSplicing factor 1small moleculeapproved|investigational

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RelatedDiseases for SF1_EHD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSF1C0025202melanoma1CTD_human