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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: 30108

FusionGeneSummary for RABGAP1L_ACBD6

check button Fusion gene summary
Fusion gene informationFusion gene name: RABGAP1L_ACBD6
Fusion gene ID: 30108
HgeneTgene
Gene symbol

RABGAP1L

ACBD6

Gene ID

9910

84320

Gene nameRAB GTPase activating protein 1 likeacyl-CoA binding domain containing 6
SynonymsHHL|TBC1D18-
Cytomap

1q25.1

1q25.2-q25.3

Type of geneprotein-codingprotein-coding
Descriptionrab GTPase-activating protein 1-likeTBC1 domain family, member 18expressed in hematopoietic cells, heart, liver (HLL)acyl-CoA-binding domain-containing protein 6acyl-Coenzyme A binding domain containing 6
Modification date2018052320180519
UniProtAcc

Q5R372

Q9BR61

Ensembl transtripts involved in fusion geneENST00000367689, ENST00000357444, 
ENST00000251507, ENST00000325589, 
ENST00000367686, ENST00000367687, 
ENST00000347255, ENST00000489615, 
ENST00000478442, ENST00000486220, 
ENST00000392064, ENST00000367688, 
ENST00000475338, ENST00000367595, 
Fusion gene scores* DoF score10 X 8 X 6=4805 X 4 X 4=80
# samples 115
** MAII scorelog2(11/480*10)=-2.12553088208386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RABGAP1L [Title/Abstract] AND ACBD6 [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
HgeneRABGAP1L

GO:0032880

regulation of protein localization

16923123


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-A2-A1FW-01ARABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
* 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
intron-5UTRENST00000367689ENST00000475338RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000367689ENST00000367595RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000357444ENST00000475338RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000357444ENST00000367595RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
5CDS-5UTRENST00000251507ENST00000475338RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
5CDS-5UTRENST00000251507ENST00000367595RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000325589ENST00000475338RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000325589ENST00000367595RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000367686ENST00000475338RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000367686ENST00000367595RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000367687ENST00000475338RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000367687ENST00000367595RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000347255ENST00000475338RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000347255ENST00000367595RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000489615ENST00000475338RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000489615ENST00000367595RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000478442ENST00000475338RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000478442ENST00000367595RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000486220ENST00000475338RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000486220ENST00000367595RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000392064ENST00000475338RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000392064ENST00000367595RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000367688ENST00000475338RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-
intron-5UTRENST00000367688ENST00000367595RABGAP1Lchr1

174606626

+ACBD6chr1

180366740

-

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FusionProtFeatures for RABGAP1L_ACBD6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RABGAP1L

Q5R372

ACBD6

Q9BR61

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 RABGAP1L_ACBD6


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 RABGAP1L_ACBD6


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
RABGAP1LRABGAP1, MAP1LC3A, GABARAPL1, RAB13, RAB34, RAB36, SHMT2, NXF1, HOXC4, CCDC101, TUFT1, CORO1A, ARFGAP1, UQCC2, C9orf43, TSPAN2, WDFY3, ACAP1, DBN1, MECOM, RB1, MAPK8IP2, RNASEH2B, HMGXB4, PXDC1, TRIM11, EXOC1, VIPR2, DLK2, RFTN2, RFTN1, TRO, GGA1, CYB5A, ACOT7, MLF1, PKN3, NCKAP5L, TFPT, CCHCR1, YEATS4, GOLGA5, CLOCK, PSMD9, VPS53, DZIP3, GRIPAP1, RCOR1, HMG20A, CCDC132, CCDC93, OIP5, PHF21A, GIT2, PTRF, PHLDB3, HAUS6, RPRD1A, ARNTL, MAX, RABGEF1, NUF2, THAP11, VPS51, TSSC1, RABEP1, KDM1A, STRNACBD6IKBKG, APP, HSPB1


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 RABGAP1L_ACBD6


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 RABGAP1L_ACBD6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRABGAP1LC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneACBD6C3714756Intellectual Disability1CTD_human