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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: 30935

FusionGeneSummary for RELL1_SLC43A2

check button Fusion gene summary
Fusion gene informationFusion gene name: RELL1_SLC43A2
Fusion gene ID: 30935
HgeneTgene
Gene symbol

RELL1

SLC43A2

Gene ID

768211

124935

Gene nameRELT like 1solute carrier family 43 member 2
Synonyms-LAT4
Cytomap

4p14

17p13.3

Type of geneprotein-codingprotein-coding
DescriptionRELT-like protein 1receptor expressed in lymphoid tissues like 1tmp_locus_29large neutral amino acids transporter small subunit 4L-type amino acid transporter 4solute carrier family 43 (amino acid system L transporter), member 2
Modification date2018051920180523
UniProtAcc

Q8IUW5

Q8N370

Ensembl transtripts involved in fusion geneENST00000314117, ENST00000454158, 
ENST00000301335, ENST00000571650, 
ENST00000382147, ENST00000412517, 
ENST00000574274, 
Fusion gene scores* DoF score3 X 3 X 1=99 X 9 X 5=405
# samples 39
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(9/405*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RELL1 [Title/Abstract] AND SLC43A2 [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
ChiTaRS3.1BG002707RELL1chr4

37640069

-SLC43A2chr17

1505674

-
* 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
5CDS-intronENST00000314117ENST00000301335RELL1chr4

37640069

-SLC43A2chr17

1505674

-
5CDS-intronENST00000314117ENST00000571650RELL1chr4

37640069

-SLC43A2chr17

1505674

-
5CDS-intronENST00000314117ENST00000382147RELL1chr4

37640069

-SLC43A2chr17

1505674

-
5CDS-intronENST00000314117ENST00000412517RELL1chr4

37640069

-SLC43A2chr17

1505674

-
5CDS-intronENST00000314117ENST00000574274RELL1chr4

37640069

-SLC43A2chr17

1505674

-
5CDS-intronENST00000454158ENST00000301335RELL1chr4

37640069

-SLC43A2chr17

1505674

-
5CDS-intronENST00000454158ENST00000571650RELL1chr4

37640069

-SLC43A2chr17

1505674

-
5CDS-intronENST00000454158ENST00000382147RELL1chr4

37640069

-SLC43A2chr17

1505674

-
5CDS-intronENST00000454158ENST00000412517RELL1chr4

37640069

-SLC43A2chr17

1505674

-
5CDS-intronENST00000454158ENST00000574274RELL1chr4

37640069

-SLC43A2chr17

1505674

-

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FusionProtFeatures for RELL1_SLC43A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RELL1

Q8IUW5

SLC43A2

Q8N370


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 RELL1_SLC43A2


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 RELL1_SLC43A2


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


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 RELL1_SLC43A2


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 RELL1_SLC43A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRELL1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneSLC43A2C0023893Liver Cirrhosis, Experimental1CTD_human