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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: 365

FusionGeneSummary for ACBD6_CCDC122

check button Fusion gene summary
Fusion gene informationFusion gene name: ACBD6_CCDC122
Fusion gene ID: 365
HgeneTgene
Gene symbol

ACBD6

CCDC122

Gene ID

84320

160857

Gene nameacyl-CoA binding domain containing 6coiled-coil domain containing 122
Synonyms--
Cytomap

1q25.2-q25.3

13q14.11

Type of geneprotein-codingprotein-coding
Descriptionacyl-CoA-binding domain-containing protein 6acyl-Coenzyme A binding domain containing 6coiled-coil domain-containing protein 122
Modification date2018051920180519
UniProtAcc

Q9BR61

Q5T0U0

Ensembl transtripts involved in fusion geneENST00000475338, ENST00000367595, 
ENST00000444614, ENST00000476570, 
ENST00000281508, 
Fusion gene scores* DoF score6 X 5 X 3=903 X 2 X 2=12
# samples 53
** MAII scorelog2(5/90*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ACBD6 [Title/Abstract] AND CCDC122 [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
TCGARVSARCTCGA-IS-A3K6-01AACBD6chr1

180283827

-CCDC122chr13

44411565

-
* 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-3CDSENST00000475338ENST00000444614ACBD6chr1

180283827

-CCDC122chr13

44411565

-
5UTR-intronENST00000475338ENST00000476570ACBD6chr1

180283827

-CCDC122chr13

44411565

-
5UTR-intronENST00000475338ENST00000281508ACBD6chr1

180283827

-CCDC122chr13

44411565

-
Frame-shiftENST00000367595ENST00000444614ACBD6chr1

180283827

-CCDC122chr13

44411565

-
5CDS-intronENST00000367595ENST00000476570ACBD6chr1

180283827

-CCDC122chr13

44411565

-
5CDS-intronENST00000367595ENST00000281508ACBD6chr1

180283827

-CCDC122chr13

44411565

-

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FusionProtFeatures for ACBD6_CCDC122


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACBD6

Q9BR61

CCDC122

Q5T0U0

Binds long-chain acyl-coenzyme A molecules with a strongpreference for unsaturated C18:1-CoA, lower affinity forunsaturated C20:4-CoA, and very weak affinity for saturated C16:0-CoA. Does not bind fatty acids. {ECO:0000269|PubMed:18268358}.

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 ACBD6_CCDC122


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 ACBD6_CCDC122


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
ACBD6IKBKG, APP, HSPB1CCDC122C17orf59, CCDC172, FAM167A, EXOC1, PKN3, NCKAP5L, TFPT


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 ACBD6_CCDC122


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 ACBD6_CCDC122


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACBD6C3714756Intellectual Disability1CTD_human