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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: 34617

FusionGeneSummary for SLC7A5_ZNF76

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC7A5_ZNF76
Fusion gene ID: 34617
HgeneTgene
Gene symbol

SLC7A5

ZNF76

Gene ID

8140

7629

Gene namesolute carrier family 7 member 5zinc finger protein 76
Synonyms4F2LC|CD98|D16S469E|E16|LAT1|MPE16D6S229E|ZNF523|Zfp523
Cytomap

16q24.2

6p21.31

Type of geneprotein-codingprotein-coding
Descriptionlarge neutral amino acids transporter small subunit 14F2 light chainCD98 light chainL-type amino acid transporter 1integral membrane protein E16sodium-independent neutral amino acid transporter LAT1solute carrier family 7 (amino acid transporter ligzinc finger protein 76zinc finger protein 523zinc finger protein 76 (expressed in testis)
Modification date2018052320180519
UniProtAcc

Q01650

P36508

Ensembl transtripts involved in fusion geneENST00000565644, ENST00000261622, 
ENST00000373953, ENST00000440666, 
ENST00000339411, ENST00000482946, 
Fusion gene scores* DoF score4 X 3 X 3=364 X 4 X 3=48
# samples 45
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SLC7A5 [Title/Abstract] AND ZNF76 [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
TgeneZNF76

GO:0045944

positive regulation of transcription by RNA polymerase II

10893243


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
ChiTaRS3.1BQ377733SLC7A5chr16

87863689

-ZNF76chr6

35264114

-
* 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-intronENST00000565644ENST00000373953SLC7A5chr16

87863689

-ZNF76chr6

35264114

-
intron-intronENST00000565644ENST00000440666SLC7A5chr16

87863689

-ZNF76chr6

35264114

-
intron-intronENST00000565644ENST00000339411SLC7A5chr16

87863689

-ZNF76chr6

35264114

-
intron-intronENST00000565644ENST00000482946SLC7A5chr16

87863689

-ZNF76chr6

35264114

-
intron-intronENST00000261622ENST00000373953SLC7A5chr16

87863689

-ZNF76chr6

35264114

-
intron-intronENST00000261622ENST00000440666SLC7A5chr16

87863689

-ZNF76chr6

35264114

-
intron-intronENST00000261622ENST00000339411SLC7A5chr16

87863689

-ZNF76chr6

35264114

-
intron-intronENST00000261622ENST00000482946SLC7A5chr16

87863689

-ZNF76chr6

35264114

-

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FusionProtFeatures for SLC7A5_ZNF76


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC7A5

Q01650

ZNF76

P36508

Sodium-independent, high-affinity transport of largeneutral amino acids such as phenylalanine, tyrosine, leucine,arginine and tryptophan, when associated with SLC3A2/4F2hc.Involved in cellular amino acid uptake. Acts as an amino acidexchanger. Involved in the transport of L-DOPA across the blood-brain barrier, and that of thyroid hormones triiodothyronine (T3)and thyroxine (T4) across the cell membrane in tissues such asplacenta. Plays a role in neuronal cell proliferation(neurogenesis) in brain. Involved in the uptake of methylmercury(MeHg) when administered as the L-cysteine or D,L-homocysteinecomplexes, and hence plays a role in metal ion homeostasis andtoxicity. Involved in the cellular activity of small molecularweight nitrosothiols, via the stereoselective transport of L-nitrosocysteine (L-CNSO) across the transmembrane. May play animportant role in high-grade gliomas. Mediates blood-to-retina L-leucine transport across the inner blood-retinal barrier which inturn may play a key role in maintaining large neutral amino acidsas well as neurotransmitters in the neural retina. Acts as themajor transporter of tyrosine in fibroblasts. When associated withLAPTM4B, recruits SLC3A2 and SLC7A5 to lysosomes to promoteleucine uptake into these organelles and is required for mTORC1activation (PubMed:25998567). {ECO:0000269|PubMed:10049700,ECO:0000269|PubMed:10391915, ECO:0000269|PubMed:10574970,ECO:0000269|PubMed:11311135, ECO:0000269|PubMed:11389679,ECO:0000269|PubMed:11557028, ECO:0000269|PubMed:11564694,ECO:0000269|PubMed:11742812, ECO:0000269|PubMed:12117417,ECO:0000269|PubMed:12225859, ECO:0000269|PubMed:15769744,ECO:0000269|PubMed:16496379, ECO:0000269|PubMed:18262359,ECO:0000269|PubMed:25998567, ECO:0000269|PubMed:9751058}. May be involved in transcriptional regulation.

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 SLC7A5_ZNF76


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 SLC7A5_ZNF76


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 SLC7A5_ZNF76


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 SLC7A5_ZNF76


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC7A5C0024121Lung Neoplasms1CTD_human
HgeneSLC7A5C0162820Dermatitis, Allergic Contact1CTD_human