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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: 33536

FusionGeneSummary for SFXN1_CPLX2

check button Fusion gene summary
Fusion gene informationFusion gene name: SFXN1_CPLX2
Fusion gene ID: 33536
HgeneTgene
Gene symbol

SFXN1

CPLX2

Gene ID

94081

10814

Gene namesideroflexin 1complexin 2
SynonymsSLC56A1|TCC921-L|CPX-2|CPX2|Hfb1
Cytomap

5q35.2

5q35.2

Type of geneprotein-codingprotein-coding
Descriptionsideroflexin-1tricarboxylate carrier proteincomplexin-2CPX IIcomplexin IIsynaphin 1
Modification date2018051920180523
UniProtAcc

Q9H9B4

Q6PUV4

Ensembl transtripts involved in fusion geneENST00000321442, ENST00000515791, 
ENST00000502393, 
ENST00000359546, 
ENST00000506642, ENST00000393745, 
ENST00000512824, ENST00000515094, 
Fusion gene scores* DoF score2 X 1 X 2=42 X 3 X 2=12
# samples 23
** MAII scorelog2(2/4*10)=2.32192809488736log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SFXN1 [Title/Abstract] AND CPLX2 [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
TCGALDCOADTCGA-DM-A1DA-01ASFXN1chr5

174919270

+CPLX2chr5

175305655

+
* 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
5CDS-5UTRENST00000321442ENST00000359546SFXN1chr5

174919270

+CPLX2chr5

175305655

+
5CDS-intronENST00000321442ENST00000506642SFXN1chr5

174919270

+CPLX2chr5

175305655

+
5CDS-5UTRENST00000321442ENST00000393745SFXN1chr5

174919270

+CPLX2chr5

175305655

+
5CDS-5UTRENST00000321442ENST00000512824SFXN1chr5

174919270

+CPLX2chr5

175305655

+
5CDS-5UTRENST00000321442ENST00000515094SFXN1chr5

174919270

+CPLX2chr5

175305655

+
intron-5UTRENST00000515791ENST00000359546SFXN1chr5

174919270

+CPLX2chr5

175305655

+
intron-intronENST00000515791ENST00000506642SFXN1chr5

174919270

+CPLX2chr5

175305655

+
intron-5UTRENST00000515791ENST00000393745SFXN1chr5

174919270

+CPLX2chr5

175305655

+
intron-5UTRENST00000515791ENST00000512824SFXN1chr5

174919270

+CPLX2chr5

175305655

+
intron-5UTRENST00000515791ENST00000515094SFXN1chr5

174919270

+CPLX2chr5

175305655

+
5CDS-5UTRENST00000502393ENST00000359546SFXN1chr5

174919270

+CPLX2chr5

175305655

+
5CDS-intronENST00000502393ENST00000506642SFXN1chr5

174919270

+CPLX2chr5

175305655

+
5CDS-5UTRENST00000502393ENST00000393745SFXN1chr5

174919270

+CPLX2chr5

175305655

+
5CDS-5UTRENST00000502393ENST00000512824SFXN1chr5

174919270

+CPLX2chr5

175305655

+
5CDS-5UTRENST00000502393ENST00000515094SFXN1chr5

174919270

+CPLX2chr5

175305655

+

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FusionProtFeatures for SFXN1_CPLX2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SFXN1

Q9H9B4

CPLX2

Q6PUV4

Might be involved in the transport of a componentrequired for iron utilization into or out of the mitochondria. Negatively regulates the formation of synaptic vesicleclustering at active zone to the presynaptic membrane inpostmitotic neurons. Positively regulates a late step inexocytosis of various cytoplasmic vesicles, such as synapticvesicles and other secretory vesicles. Also involved in mast cellexocytosis (By similarity). {ECO:0000250|UniProtKB:P84086,ECO:0000250|UniProtKB:P84088}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for SFXN1_CPLX2


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 SFXN1_CPLX2


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
SFXN1PGRMC1, TSC22D1, UBA5, ICT1, HDAC5, ELAVL1, CUL4A, TMEM14B, PRKCDBP, SFXN3, MTHFD1, EWSR1, TOMM70A, SSR1, TAP1, TMEM126A, TOMM20, RCN2, ATP6V1E1, TIMM50, TOMM7, TXN, UQCRFS1, ILF2, TMEM14C, UBQLN1, TPM3P4, ILF3, ATF2, CLN3, STAU1, CCDC8, SUZ12, RNF2, BMI1, HLA-DPA1, DDI1, ACAT1, ATP5L, UQCRQ, NTRK1, XRCC3, NCSTN, MYEF2, NDUFA4, COQ9, PTPMT1, CHCHD10, ATP5A1, C15orf48, APOOL, AIFM1, ZNF746, COQ2, COX15, DLST, PDHA1, SDHA, SOAT1, VDAC1, YAP1CPLX2STX1A, APP, CPLX1, ANKRD13C, FAM21A, RAP1A, DEGS1, SCCPDH


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 SFXN1_CPLX2


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 SFXN1_CPLX2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCPLX2C0036341Schizophrenia2CTD_human
TgeneCPLX2C0005586Bipolar Disorder1CTD_human
TgeneCPLX2C0011570Mental Depression1PSYGENET
TgeneCPLX2C0011581Depressive disorder1PSYGENET
TgeneCPLX2C0033975Psychotic Disorders1CTD_human