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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: 16037

FusionGeneSummary for HECTD1_SCFD1

check button Fusion gene summary
Fusion gene informationFusion gene name: HECTD1_SCFD1
Fusion gene ID: 16037
HgeneTgene
Gene symbol

HECTD1

SCFD1

Gene ID

25831

23256

Gene nameHECT domain E3 ubiquitin protein ligase 1sec1 family domain containing 1
SynonymsEULIRC14orf163|RA410|SLY1|SLY1P|STXBP1L2
Cytomap

14q12

14q12

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase HECTD1E3 ligase for inhibin receptorHECT domain containing E3 ubiquitin protein ligase 1HECT domain-containing protein 1HECT-type E3 ubiquitin transferase HECTD1sec1 family domain-containing protein 1syntaxin-binding protein 1-like 2vesicle transport-related protein
Modification date2018052320180519
UniProtAcc

Q9ULT8

Q8WVM8

Ensembl transtripts involved in fusion geneENST00000399332, ENST00000553700, 
ENST00000556474, 		ENST00000458591, 
ENST00000421551, ENST00000544052, 
ENST00000541123, ENST00000396629, 
ENST00000554486, 
Fusion gene scores* DoF score8 X 8 X 5=3207 X 6 X 5=210
# samples 127
** MAII scorelog2(12/320*10)=-1.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HECTD1 [Title/Abstract] AND SCFD1 [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
TCGALDBRCATCGA-EW-A2FR-01AHECTD1chr14

31626046

-SCFD1chr14

31177196

+
* 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
Frame-shiftENST00000399332ENST00000458591HECTD1chr14

31626046

-SCFD1chr14

31177196

+
Frame-shiftENST00000399332ENST00000421551HECTD1chr14

31626046

-SCFD1chr14

31177196

+
Frame-shiftENST00000399332ENST00000544052HECTD1chr14

31626046

-SCFD1chr14

31177196

+
Frame-shiftENST00000399332ENST00000541123HECTD1chr14

31626046

-SCFD1chr14

31177196

+
Frame-shiftENST00000399332ENST00000396629HECTD1chr14

31626046

-SCFD1chr14

31177196

+
5CDS-intronENST00000399332ENST00000554486HECTD1chr14

31626046

-SCFD1chr14

31177196

+
Frame-shiftENST00000553700ENST00000458591HECTD1chr14

31626046

-SCFD1chr14

31177196

+
Frame-shiftENST00000553700ENST00000421551HECTD1chr14

31626046

-SCFD1chr14

31177196

+
Frame-shiftENST00000553700ENST00000544052HECTD1chr14

31626046

-SCFD1chr14

31177196

+
Frame-shiftENST00000553700ENST00000541123HECTD1chr14

31626046

-SCFD1chr14

31177196

+
Frame-shiftENST00000553700ENST00000396629HECTD1chr14

31626046

-SCFD1chr14

31177196

+
5CDS-intronENST00000553700ENST00000554486HECTD1chr14

31626046

-SCFD1chr14

31177196

+
intron-3CDSENST00000556474ENST00000458591HECTD1chr14

31626046

-SCFD1chr14

31177196

+
intron-3CDSENST00000556474ENST00000421551HECTD1chr14

31626046

-SCFD1chr14

31177196

+
intron-3CDSENST00000556474ENST00000544052HECTD1chr14

31626046

-SCFD1chr14

31177196

+
intron-3CDSENST00000556474ENST00000541123HECTD1chr14

31626046

-SCFD1chr14

31177196

+
intron-3CDSENST00000556474ENST00000396629HECTD1chr14

31626046

-SCFD1chr14

31177196

+
intron-intronENST00000556474ENST00000554486HECTD1chr14

31626046

-SCFD1chr14

31177196

+

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FusionProtFeatures for HECTD1_SCFD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HECTD1

Q9ULT8

SCFD1

Q8WVM8

E3 ubiquitin-protein ligase which accepts ubiquitin froman E2 ubiquitin-conjugating enzyme in the form of a thioester andthen directly transfers the ubiquitin to targeted substrates.Mediates 'Lys-63'-linked polyubiquitination of HSP90AA1 whichleads to its intracellular localization and reduced secretion.Negatively regulating HSP90AA1 secretion in cranial mesenchymecells may impair their emigration and may be essential for thecorrect development of the cranial neural folds and neural tubeclosure. {ECO:0000250|UniProtKB:Q69ZR2}.

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 HECTD1_SCFD1


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 HECTD1_SCFD1


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
HECTD1ZRANB1, IGSF1, SIRT7, APC, YWHAQ, ANKRD28, BTF3L4, KIAA0101, TCEAL4, TPM2, PPP2R5D, PRDX1, RIOK2, ZNF622, SHFM1, UBC, AARSD1, TP53, TUBGCP3, DIRAS3, C9orf24, GEM, RASSF6, DNM3, ATP6V1C2, BMP15, SETDB1, AP1M2, TTLL1, CAMKMT, ZNHIT3, HSPB1, FBXW11, NIN, RPGRIP1L, DYNLT1, FBXW7, ESR1, NCAPG, SMC2, SMC4, NCAPH, NCAPD2, NCAPH2, HECTD1, UBE2D3, IQGAP1, EPB41L5, ZNF695, CINP, CAPN6, ZNF223, GMNN, HIF1AN, MTNR1B, TRIM25SCFD1STX18, DLST, USP22, USO1, DKKL1, KAT5, APPBP2, GOSR1, NSF, CUL5, LRRK2, MRPL13, ATP6V0A1, SNAP23, MRPL15, SLC25A46, MRPL40, MRPL49, ILF2, HSPA6, OGDH, HOOK3, MPV17, SLC25A3, DNAJA3, VAMP2, MRPL32, VCP, SOX2, STAU1, MOV10, NXF1, EGFR, STX6, USE1, STX5, MRPL9, VPS45, NTRK1, FBF1, EVC2, TMEM17, TMEM216, PDGFRA, RAB5C, ATP6AP2, MCM2, VAMP4, SEC22B


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 HECTD1_SCFD1


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 HECTD1_SCFD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSCFD1C0002736Amyotrophic Lateral Sclerosis1CTD_human