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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: 19007

FusionGeneSummary for KLHDC4_SLC7A5

check button Fusion gene summary
Fusion gene informationFusion gene name: KLHDC4_SLC7A5
Fusion gene ID: 19007
HgeneTgene
Gene symbol

KLHDC4

SLC7A5

Gene ID

54758

8140

Gene namekelch domain containing 4solute carrier family 7 member 5
Synonyms-4F2LC|CD98|D16S469E|E16|LAT1|MPE16
Cytomap

16q24.2

16q24.2

Type of geneprotein-codingprotein-coding
Descriptionkelch domain-containing protein 4large 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 lig
Modification date2018051920180523
UniProtAcc

Q8TBB5

Q01650

Ensembl transtripts involved in fusion geneENST00000353170, ENST00000347925, 
ENST00000566349, ENST00000270583, 
ENST00000565644, ENST00000261622, 
Fusion gene scores* DoF score4 X 3 X 4=482 X 2 X 2=8
# samples 42
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: KLHDC4 [Title/Abstract] AND SLC7A5 [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
TCGARVBLCATCGA-4Z-AA82-01AKLHDC4chr16

87782279

-SLC7A5chr16

87871547

-
* 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-shitENST00000353170ENST00000565644KLHDC4chr16

87782279

-SLC7A5chr16

87871547

-
Frame-shitENST00000353170ENST00000261622KLHDC4chr16

87782279

-SLC7A5chr16

87871547

-
Frame-shitENST00000347925ENST00000565644KLHDC4chr16

87782279

-SLC7A5chr16

87871547

-
Frame-shitENST00000347925ENST00000261622KLHDC4chr16

87782279

-SLC7A5chr16

87871547

-
intron-3CDSENST00000566349ENST00000565644KLHDC4chr16

87782279

-SLC7A5chr16

87871547

-
intron-3CDSENST00000566349ENST00000261622KLHDC4chr16

87782279

-SLC7A5chr16

87871547

-
Frame-shitENST00000270583ENST00000565644KLHDC4chr16

87782279

-SLC7A5chr16

87871547

-
Frame-shitENST00000270583ENST00000261622KLHDC4chr16

87782279

-SLC7A5chr16

87871547

-

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FusionProtFeatures for KLHDC4_SLC7A5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KLHDC4

Q8TBB5

SLC7A5

Q01650

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}.

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 KLHDC4_SLC7A5


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 KLHDC4_SLC7A5


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
KLHDC4TERF1, KDM1A, SUV39H1, SUV39H2, CEP76, SHMT2, MOV10, NXF1, CROT, RPS19SLC7A5SLC3A2, ELAVL1, HNRNPU, NOS2, LGR4, IRAK1, TMEM17, TMEM216, NCSTN, TMEM63B, TUBA1C, MBOAT1, EGFR, CDC73, CYLD, TRIM25, TES


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 KLHDC4_SLC7A5


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 KLHDC4_SLC7A5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSLC7A5C0024121Lung Neoplasms1CTD_human
TgeneSLC7A5C0162820Dermatitis, Allergic Contact1CTD_human