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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: 4763

FusionGeneSummary for C17orf62_HEXDC

check button Fusion gene summary
Fusion gene informationFusion gene name: C17orf62_HEXDC
Fusion gene ID: 4763
HgeneTgene
Gene symbol

C17orf62

HEXDC

Gene ID

284004

Gene namehexosaminidase D
Synonyms-
Cytomap

17q25.3

Type of geneprotein-coding
Descriptionhexosaminidase DN-acetyl-beta-galactosaminidasebeta-N-acetylhexosaminidasebeta-hexosaminidase Dhexosaminidase (glycosyl hydrolase family 20, catalytic domain) containinghexosaminidase D, cytosolichexosaminidase domain-containing protein
Modification date20180519
UniProtAcc

Q8WVB3

Ensembl transtripts involved in fusion geneENST00000342572, ENST00000306645, 
ENST00000437807, ENST00000336995, 
ENST00000434650, ENST00000583617, 
ENST00000577436, ENST00000585064, 
ENST00000577732, ENST00000578919, 
ENST00000585080, ENST00000578913, 
ENST00000583359, 
ENST00000337014, 
ENST00000577944, ENST00000327949, 
Fusion gene scores* DoF score3 X 3 X 3=276 X 5 X 4=120
# samples 36
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C17orf62 [Title/Abstract] AND HEXDC [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
TCGARVCESCTCGA-DG-A2KM-01AC17orf62chr17

80403740

-HEXDCchr17

80391534

+
* 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
5UTR-3CDSENST00000342572ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
5UTR-3CDSENST00000342572ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
5UTR-3CDSENST00000342572ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000306645ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000306645ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000306645ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000437807ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000437807ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000437807ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+
5UTR-3CDSENST00000336995ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
5UTR-3CDSENST00000336995ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
5UTR-3CDSENST00000336995ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000434650ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000434650ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000434650ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000583617ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000583617ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000583617ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000577436ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000577436ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000577436ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000585064ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000585064ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000585064ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000577732ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000577732ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000577732ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+
In-frameENST00000578919ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
In-frameENST00000578919ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
In-frameENST00000578919ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+
In-frameENST00000585080ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
In-frameENST00000585080ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
In-frameENST00000585080ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000578913ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000578913ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
Frame-shiftENST00000578913ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+
In-frameENST00000583359ENST00000337014C17orf62chr17

80403740

-HEXDCchr17

80391534

+
In-frameENST00000583359ENST00000577944C17orf62chr17

80403740

-HEXDCchr17

80391534

+
In-frameENST00000583359ENST00000327949C17orf62chr17

80403740

-HEXDCchr17

80391534

+

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FusionProtFeatures for C17orf62_HEXDC


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C17orf62

HEXDC

Q8WVB3

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Has hexosaminidase activity.{ECO:0000269|PubMed:19040401}.

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 C17orf62_HEXDC


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 C17orf62_HEXDC


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
C17orf62ETS1, CCDC155, P2RX4, GTF2A1, CREB3, CREB3L1, DUSP6, CD79B, LMNAHEXDCADPRHL2, C7orf25, RILPL2, GDPD2, PSD, GLRX3, EEF1D, TUBB3, EGFR


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 C17orf62_HEXDC


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 C17orf62_HEXDC


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