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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: 9087

FusionGeneSummary for CYB561_HTT

check button Fusion gene summary
Fusion gene informationFusion gene name: CYB561_HTT
Fusion gene ID: 9087
HgeneTgene
Gene symbol

CYB561

HTT

Gene ID

1534

6532

Gene namecytochrome b561solute carrier family 6 member 4
SynonymsCYB561A1|FRRS25-HTT|5-HTTLPR|5HTT|HTT|OCD1|SERT|SERT1|hSERT
Cytomap

17q23.3

17q11.2

Type of geneprotein-codingprotein-coding
Descriptioncytochrome b561cytochrome b-561cytochrome b561 family, member A1ferric-chelate reductase 2sodium-dependent serotonin transporter5-hydroxytryptamine (serotonin) transporter5HT transporterNa+/Cl- dependent serotonin transporterserotonin transporter 1solute carrier family 6 (neurotransmitter transporter), member 4solute carrier family 6 (ne
Modification date2018052320180527
UniProtAcc

P49447

P42858

Ensembl transtripts involved in fusion geneENST00000392975, ENST00000360793, 
ENST00000584031, ENST00000392976, 
ENST00000582297, ENST00000581573, 
ENST00000448884, ENST00000582034, 
ENST00000542042, ENST00000581163, 
ENST00000582997, 		ENST00000355072, 
ENST00000513806, 
Fusion gene scores* DoF score10 X 6 X 5=3007 X 8 X 4=224
# samples 118
** MAII scorelog2(11/300*10)=-1.44745897697122
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/224*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CYB561 [Title/Abstract] AND HTT [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
TgeneHTT

GO:0006837

serotonin transport

19270731

TgeneHTT

GO:0009636

response to toxic substance

17575980

TgeneHTT

GO:0015844

monoamine transport

16024787

TgeneHTT

GO:0051610

serotonin uptake

8987735|16870614|17506858|18227069|19270731


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
ChiTaRS3.1BM678345CYB561chr17

61509881

+HTTchr4

3136267

-
* 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
intron-intronENST00000392975ENST00000355072CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000392975ENST00000513806CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000360793ENST00000355072CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000360793ENST00000513806CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000584031ENST00000355072CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000584031ENST00000513806CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000392976ENST00000355072CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000392976ENST00000513806CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000582297ENST00000355072CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000582297ENST00000513806CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000581573ENST00000355072CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000581573ENST00000513806CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000448884ENST00000355072CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000448884ENST00000513806CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000582034ENST00000355072CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000582034ENST00000513806CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000542042ENST00000355072CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000542042ENST00000513806CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000581163ENST00000355072CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000581163ENST00000513806CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000582997ENST00000355072CYB561chr17

61509881

+HTTchr4

3136267

-
intron-intronENST00000582997ENST00000513806CYB561chr17

61509881

+HTTchr4

3136267

-

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FusionProtFeatures for CYB561_HTT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CYB561

P49447

HTT

P42858

Secretory vesicle-specific electron transport protein. May play a role in microtubule-mediated transport orvesicle function.

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 CYB561_HTT


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 CYB561_HTT


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
CYB561EDA, RNF5, CREB3, PTPRA, TRIM25, LMNAHTTSETD2, HAP1, ZDHHC17, HYPK, TRIP10, NEUROD1, PRPF40A, PRPF40B, MAGEA3, FICD, UBE2K, AP2A2, OPTN, HYPM, CREBBP, SH3GL3, SP1, MAP3K10, HIP1, EGFR, GRB2, RASA1, TCERG1, TP53, PACSIN1, F8A1, NCOR1, CTBP1, AGO2, KAT2B, SYVN1, AMFR, VCP, CHUK, IKBKB, HSPA8, TRAF6, UBQLN1, IKBKG, AXIN1, CTNNB1, GAPDH, SIAH1, MED31, CRMP1, FEZ1, GIT1, CHD3, ECH1, IKBKAP, XRCC6, PFN2, PIAS4, GPRASP2, UTP14A, DNALI1, GRM1, HSP90AB1, DNAJB1, DNAJA1, HBS1L, TUBA1A, TUBB, PSMC5, ATG5, SQSTM1, NBR1, MAP1LC3A, HTT, TAF4, PIAS1, ZNF451, HOXC4, EVL, UBAC1, HMG20A, ERCC6L, FTL, TTC23, RNF20, HEY2, ZNF655, PIK3R1, ZFYVE19, GOLPH3L, MAGEB18, MRFAP1, UBE2E3, ZMAT2, DUSP10, MRFAP1L1, GGA2, ING5, IFT20, HEYL, TACC1, MBD4, DPPA4, ETV4, MAGEB6, MED21, HIST1H3H, PEX11B, MBD1, TRAFD1, HOXC11, OSTF1, NUPL1, XAGE3, PTGES2, MIPEP, PSMB7, NME4, RPL4, ZFC3H1, UPF3A, CCDC126, HMGA1, FAM71F1, RCN2, USP8, MGRN1, PML, ITCH, USP14, MID1, RPS6KB1, PPP2CA, CREB1, HLA-B, PRMT2, ULK1, RFXANK, LLGL1, MAPK3, KIF23, BAG3, RAPGEF2, HUWE1, MORC3, UBQLN2, RAB30, SNX21, SYT12, MPP1, NPY2R, OPRM1, CRYL1, IL17RA, C5AR2, TKT, RHEB, MTOR


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 CYB561_HTT


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 CYB561_HTT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHTTC0020179Huntington Disease9CTD_human;ORPHANET
TgeneHTTC0011570Mental Depression4PSYGENET
TgeneHTTC0011581Depressive disorder4HPO;PSYGENET
TgeneHTTC0525045Mood Disorders2PSYGENET
TgeneHTTC0006635Cadmium poisoning1CTD_human
TgeneHTTC0026650Movement Disorders1CTD_human;HPO
TgeneHTTC0677050Manganese Poisoning1CTD_human