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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: 5885

FusionGeneSummary for CCDC64_HLCS

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC64_HLCS
Fusion gene ID: 5885
HgeneTgene
Gene symbol

CCDC64

HLCS

Gene ID

92558

3141

Gene nameBICD family like cargo adaptor 1holocarboxylase synthetase
SynonymsBICDR-1|BICDR1|CCDC64|CCDC64A|H_267D11.1HCS
Cytomap

12q24.23

21q22.13

Type of geneprotein-codingprotein-coding
DescriptionBICD family-like cargo adapter 1BICD-related protein 1Bicaudal D related 1WUGSC:H_267D11.1bicaudal D-related protein 1coiled-coil domain containing 64coiled-coil domain-containing protein 64Abiotin--protein ligasebiotin apo-protein ligasebiotin--[acetyl-CoA-carboxylase] ligasebiotin--[methylcrotonoyl-CoA-carboxylase] ligasebiotin--[methylmalonyl-CoA-carboxytransferase] ligaseholocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase
Modification date2018052320180519
UniProtAcc

P50747

Ensembl transtripts involved in fusion geneENST00000397558, ENST00000446727, 
ENST00000257583, ENST00000546857, 
ENST00000336648, ENST00000399120, 
ENST00000482273, 
Fusion gene scores* DoF score2 X 2 X 2=85 X 4 X 4=80
# samples 25
** MAII scorelog2(2/8*10)=1.32192809488736log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC64 [Title/Abstract] AND HLCS [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
TgeneHLCS

GO:0009305

protein biotinylation

7842009

TgeneHLCS

GO:0016570

histone modification

14613969

TgeneHLCS

GO:0070781

response to biotin

17904341

TgeneHLCS

GO:0071110

histone biotinylation

14613969


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
TCGARVLIHCTCGA-UB-A7ME-01ACCDC64chr12

120527875

+HLCSchr21

38139586

-
* 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-shiftENST00000397558ENST00000336648CCDC64chr12

120527875

+HLCSchr21

38139586

-
Frame-shiftENST00000397558ENST00000399120CCDC64chr12

120527875

+HLCSchr21

38139586

-
5CDS-intronENST00000397558ENST00000482273CCDC64chr12

120527875

+HLCSchr21

38139586

-
Frame-shiftENST00000446727ENST00000336648CCDC64chr12

120527875

+HLCSchr21

38139586

-
Frame-shiftENST00000446727ENST00000399120CCDC64chr12

120527875

+HLCSchr21

38139586

-
5CDS-intronENST00000446727ENST00000482273CCDC64chr12

120527875

+HLCSchr21

38139586

-
Frame-shiftENST00000257583ENST00000336648CCDC64chr12

120527875

+HLCSchr21

38139586

-
Frame-shiftENST00000257583ENST00000399120CCDC64chr12

120527875

+HLCSchr21

38139586

-
5CDS-intronENST00000257583ENST00000482273CCDC64chr12

120527875

+HLCSchr21

38139586

-
intron-3CDSENST00000546857ENST00000336648CCDC64chr12

120527875

+HLCSchr21

38139586

-
intron-3CDSENST00000546857ENST00000399120CCDC64chr12

120527875

+HLCSchr21

38139586

-
intron-intronENST00000546857ENST00000482273CCDC64chr12

120527875

+HLCSchr21

38139586

-

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FusionProtFeatures for CCDC64_HLCS


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC64

HLCS

P50747

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}. Post-translational modification of specific protein byattachment of biotin. Acts on various carboxylases such as acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl CoA carboxylase,and 3-methylcrotonyl CoA carboxylase.

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 CCDC64_HLCS


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 CCDC64_HLCS


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
CCDC64HSPB1HLCSPOT1, ACACB, HLCS, DDX52, SNX27, C1orf111, TMC7, CATSPERD, TBC1D20


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 CCDC64_HLCS


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneHLCSP50747DB00121BiotinBiotin--protein ligasesmall moleculeapproved|investigational|nutraceutical

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RelatedDiseases for CCDC64_HLCS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHLCSC0268581Holocarboxylase Synthetase Deficiency10CTD_human;ORPHANET;UNIPROT