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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: 19049

FusionGeneSummary for KLHL5_LNX1

check button Fusion gene summary
Fusion gene informationFusion gene name: KLHL5_LNX1
Fusion gene ID: 19049
HgeneTgene
Gene symbol

KLHL5

LNX1

Gene ID

51088

84708

Gene namekelch like family member 5ligand of numb-protein X 1
Synonyms-LNX|MPDZ|PDZRN2
Cytomap

4p14

4q12

Type of geneprotein-codingprotein-coding
Descriptionkelch-like protein 5lymphocyte activation-associated proteinE3 ubiquitin-protein ligase LNXPDZ domain-containing ring finger protein 2RING-type E3 ubiquitin transferase LNXligand of numb-protein X 1, E3 ubiquitin protein ligasemulti-PDZ-domain-containing protein, E3 ubiquitin-protein ligase LNXnumb-binding pr
Modification date2018052220180522
UniProtAcc

Q96PQ7

Q8TBB1

Ensembl transtripts involved in fusion geneENST00000261425, ENST00000508137, 
ENST00000504108, ENST00000359687, 
ENST00000381930, ENST00000261426, 
ENST00000306888, ENST00000263925, 
ENST00000504605, 
Fusion gene scores* DoF score5 X 3 X 4=604 X 4 X 4=64
# samples 54
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KLHL5 [Title/Abstract] AND LNX1 [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-DK-A3X2-01AKLHL5chr4

39046716

+LNX1chr4

54374394

-
* 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-3CDSENST00000261425ENST00000306888KLHL5chr4

39046716

+LNX1chr4

54374394

-
5UTR-3CDSENST00000261425ENST00000263925KLHL5chr4

39046716

+LNX1chr4

54374394

-
5UTR-intronENST00000261425ENST00000504605KLHL5chr4

39046716

+LNX1chr4

54374394

-
5UTR-3CDSENST00000508137ENST00000306888KLHL5chr4

39046716

+LNX1chr4

54374394

-
5UTR-3CDSENST00000508137ENST00000263925KLHL5chr4

39046716

+LNX1chr4

54374394

-
5UTR-intronENST00000508137ENST00000504605KLHL5chr4

39046716

+LNX1chr4

54374394

-
intron-3CDSENST00000504108ENST00000306888KLHL5chr4

39046716

+LNX1chr4

54374394

-
intron-3CDSENST00000504108ENST00000263925KLHL5chr4

39046716

+LNX1chr4

54374394

-
intron-intronENST00000504108ENST00000504605KLHL5chr4

39046716

+LNX1chr4

54374394

-
intron-3CDSENST00000359687ENST00000306888KLHL5chr4

39046716

+LNX1chr4

54374394

-
intron-3CDSENST00000359687ENST00000263925KLHL5chr4

39046716

+LNX1chr4

54374394

-
intron-intronENST00000359687ENST00000504605KLHL5chr4

39046716

+LNX1chr4

54374394

-
intron-3CDSENST00000381930ENST00000306888KLHL5chr4

39046716

+LNX1chr4

54374394

-
intron-3CDSENST00000381930ENST00000263925KLHL5chr4

39046716

+LNX1chr4

54374394

-
intron-intronENST00000381930ENST00000504605KLHL5chr4

39046716

+LNX1chr4

54374394

-
intron-3CDSENST00000261426ENST00000306888KLHL5chr4

39046716

+LNX1chr4

54374394

-
intron-3CDSENST00000261426ENST00000263925KLHL5chr4

39046716

+LNX1chr4

54374394

-
intron-intronENST00000261426ENST00000504605KLHL5chr4

39046716

+LNX1chr4

54374394

-

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FusionProtFeatures for KLHL5_LNX1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KLHL5

Q96PQ7

LNX1

Q8TBB1

E3 ubiquitin-protein ligase that mediates ubiquitinationand subsequent proteasomal degradation of NUMB. E3 ubiquitinligases accept ubiquitin from an E2 ubiquitin-conjugating enzymein the form of a thioester and then directly transfers theubiquitin to targeted substrates. Mediates ubiquitination ofisoform p66 and isoform p72 of NUMB, but not that of isoform p71or isoform p65. {ECO:0000250|UniProtKB:O70263}. Isoform 2 provides an endocytic scaffold for IGSF5/JAM4.{ECO:0000250|UniProtKB:O70263}.

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 KLHL5_LNX1


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 KLHL5_LNX1


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
KLHL5GABARAPL2, TK1, MAP1LC3B, SMN1, CUL3, FUS, MTNR1ALNX1MAGEA11, DCTD, LDOC1, CUTC, CALCOCO2, SRSF1, NADK, ENOX1, RBMX, RPIA, TRAF2, KHDRBS3, CCDC85B, PAFAH1B3, KLHL12, TRIP13, TIFA, CEP72, RABAC1, PCBD1, KRTAP4-12, NAGK, KCTD13, MAGEB18, AIMP2, APIP, KCTD17, DDX17, FHL3, TRIM23, NECAB2, SAT1, TSC22D4, ZBTB43, AKIRIN2, KXD1, KRT15, DVL3, EHMT2, PAICS, RAD54B, FBP1, ZBTB8A, NUMB, RHOC, CD8A, SRC, AMMECR1L, AURKB, AURKC, FAM212B, CAMK2N2, DAPK1, DEPTOR, EBF4, EPHB3, KIAA1598, MRPS24, MUSTN1, NKD2, PLEKHG5, PPID, RASL11B, SCLT1, SNCB, ZADH2, WWP1, SAPCD1, TMEM14C, WAC, STX5, PAK6, PBK, TYK2, KCNA4, PRKCA, SDK1, INSC, NRCAM, ABCB1, KALRN, CLDN17, GPR142, EXOC8, DOCK9, LRRC3B, GRIN1, ARHGAP6, LNX2, SSTR3, ADRA1D, SLC6A15, LGR6, TYRO3, CITED1, CGN, PTGIR, SLC6A5, HUNK, GIPR, ARVCF, CTNND2, PKP4, GAS2L2, CLDN1, TSC2, GJD4, TNFRSF18, CLDN2, ILF3, CTSO, VRK2, WNT8A, STRN, ARHGEF16, PQBP1, CDC42EP4, ORMDL3, BPIFA1, ABR, JOSD1, NUP37, BCR, HTR2B, PKDREJ, PDZRN3, PDZRN4, CXADR, ABCA1, SNW1, COIL, UBE2D2, APP, HSP90AA1, NACAP1, PRPH, IL3RA, ULK2, SUV39H1, SUV39H2, IGSF5, SPHKAP, CTBP1, ACAT2, ALDOC, BLVRA, CA8, CDA, CIRBP, CLK2, DAB1, GDI1, GRB2, HSBP1, PKM, PPIA, MAPK9, PTS, RAD51D, RBMY1A1, DPF2, SNRPF, TPM4, VCP, EIF4H, NCK2, SSNA1, RFPL3, NEK6, RUVBL2, MTUS2, ISCU, DNPEP, OSBP2, NME7, OSGIN1, ZNF593, MEMO1, ZNF581, PRR13, ROPN1, ZCCHC10, FBXL12, FAM118A, TRMT12, GOLPH3L, POMGNT1, ZFP64, NXT2, TRIM39, LGALS14, AGTRAP, TRIM54, HOMEZ, LSM2, PBLD, ROBO3, AIDA, MTMR9, HMBOX1, SNRNP25, CCDC102B, THAP7, APOL4, TSSK3, KRTAP9-2, ATRIP, DCUN1D5, LNX1, KRTAP4-2, MVB12B, ATPAF2, ACY3, CCDC114, CCDC101, C1QTNF1, MRFAP1L1, CIB3, METTL21A, FAM9B, KCTD6, TBCEL, FAM124A, ALKBH3, CPNE2, LCLAT1, NUDT14, CATSPERD, KCTD1, RUFY4, STAC2, NOTCH2NL, JAK3, PTPN11, SH2D2A, SOCS6, LRFN4, NXF2B


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 KLHL5_LNX1


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 KLHL5_LNX1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKLHL5C0236736Cocaine-Related Disorders1CTD_human