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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: 16094

FusionGeneSummary for HERC1_FAM96A

check button Fusion gene summary
Fusion gene informationFusion gene name: HERC1_FAM96A
Fusion gene ID: 16094
HgeneTgene
Gene symbol

HERC1

FAM96A

Gene ID

8925

Gene nameHECT and RLD domain containing E3 ubiquitin protein ligase family member 1
SynonymsMDFPMR|p532|p619
Cytomap

15q22.31

Type of geneprotein-coding
Descriptionprobable E3 ubiquitin-protein ligase HERC1HECT domain and RCC1-like domain-containing protein 1HECT-type E3 ubiquitin transferase HERC1guanine nucleotide exchange factor p532hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC
Modification date20180519
UniProtAcc

Q15751

Q9H5X1

Ensembl transtripts involved in fusion geneENST00000443617, ENST00000300030, 
ENST00000558779, ENST00000380290, 
ENST00000557835, ENST00000559950, 
Fusion gene scores* DoF score10 X 11 X 9=9908 X 7 X 7=392
# samples 149
** MAII scorelog2(14/990*10)=-2.82200169802201
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/392*10)=-2.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HERC1 [Title/Abstract] AND FAM96A [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
ChiTaRS3.1BC017384HERC1chr15

64066893

-FAM96Achr15

64367737

-
* 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-shiftENST00000443617ENST00000300030HERC1chr15

64066893

-FAM96Achr15

64367737

-
5CDS-intronENST00000443617ENST00000558779HERC1chr15

64066893

-FAM96Achr15

64367737

-
5CDS-intronENST00000443617ENST00000380290HERC1chr15

64066893

-FAM96Achr15

64367737

-
5CDS-intronENST00000443617ENST00000557835HERC1chr15

64066893

-FAM96Achr15

64367737

-
5CDS-intronENST00000443617ENST00000559950HERC1chr15

64066893

-FAM96Achr15

64367737

-

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FusionProtFeatures for HERC1_FAM96A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HERC1

Q15751

FAM96A

Q9H5X1

Involved in membrane trafficking via some guaninenucleotide exchange factor (GEF) activity and its ability to bindclathrin. Acts as a GEF for Arf and Rab, by exchanging bound GDPfor free GTP. Binds phosphatidylinositol 4,5-bisphosphate, whichis required for GEF activity. May also act as a E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directlytransfers the ubiquitin to targeted substrates.{ECO:0000269|PubMed:15642342, ECO:0000269|PubMed:8861955,ECO:0000269|PubMed:9233772}. May play a role in chromosome segregation throughestablishment of sister chromatid cohesion. {ECO:0000250}.

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 HERC1_FAM96A


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 HERC1_FAM96A


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
HERC1DFFA, PKM, EP300, ARF1, TSC2, CLTC, NOS2, SOX9, UBE2D3, BYSL, GRIPAP1, KCMF1, MYL12A, BAK1, BRCA1, MORC1, RSPH10B2, MLF1, ECHS1, RAPSN, DNM3, USP18, TFDP3, ARHGAP29, TTLL1, UNK, HERC2, HERC1, UBE2S, EGFR, SSH3, IFIT1B, WDFY3, TIGD6, CCDC65, GCNT3, TRPC4AP, CSNK1A1, NEUROG3, C1orf87, RAPGEF5, ZBBX, SMOX, TPTE2, ZNF610, FMO5, ZNF223, ZNF571, VPS36, ZNF555, RABGEF1, ZNF563, UBCFAM96ACIAO1, IREB2, PRPS2, MYH11, TDRD3, DNAJB6, POLE, MLF2, NARFL, TOP3B, AGTRAP


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 HERC1_FAM96A


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 HERC1_FAM96A


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