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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: 19027

FusionGeneSummary for KLHL22_ZNF74

check button Fusion gene summary
Fusion gene informationFusion gene name: KLHL22_ZNF74
Fusion gene ID: 19027
HgeneTgene
Gene symbol

KLHL22

ZNF74

Gene ID

84861

7625

Gene namekelch like family member 22zinc finger protein 74
SynonymsKELCHLCOS52|ZFP520|ZNF520|hZNF7
Cytomap

22q11.21

22q11.21

Type of geneprotein-codingprotein-coding
Descriptionkelch-like protein 22kelch-like 22zinc finger protein 74zinc finger protein 520
Modification date2018052320180522
UniProtAcc

Q53GT1

Q16587

Ensembl transtripts involved in fusion geneENST00000328879, ENST00000440659, 
ENST00000470335, 		ENST00000400451, 
ENST00000403682, ENST00000357502, 
ENST00000356671, ENST00000405993, 
Fusion gene scores* DoF score9 X 6 X 6=3242 X 1 X 2=4
# samples 92
** MAII scorelog2(9/324*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/4*10)=2.32192809488736
Context

PubMed: KLHL22 [Title/Abstract] AND ZNF74 [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
HgeneKLHL22

GO:0006513

protein monoubiquitination

23455478


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
TCGARVLUSCTCGA-66-2793-01AKLHL22chr22

20843272

-ZNF74chr22

20754922

+
* 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
In-frameENST00000328879ENST00000400451KLHL22chr22

20843272

-ZNF74chr22

20754922

+
Frame-shiftENST00000328879ENST00000403682KLHL22chr22

20843272

-ZNF74chr22

20754922

+
Frame-shiftENST00000328879ENST00000357502KLHL22chr22

20843272

-ZNF74chr22

20754922

+
In-frameENST00000328879ENST00000356671KLHL22chr22

20843272

-ZNF74chr22

20754922

+
In-frameENST00000328879ENST00000405993KLHL22chr22

20843272

-ZNF74chr22

20754922

+
5UTR-3CDSENST00000440659ENST00000400451KLHL22chr22

20843272

-ZNF74chr22

20754922

+
5UTR-3CDSENST00000440659ENST00000403682KLHL22chr22

20843272

-ZNF74chr22

20754922

+
5UTR-3CDSENST00000440659ENST00000357502KLHL22chr22

20843272

-ZNF74chr22

20754922

+
5UTR-3CDSENST00000440659ENST00000356671KLHL22chr22

20843272

-ZNF74chr22

20754922

+
5UTR-3CDSENST00000440659ENST00000405993KLHL22chr22

20843272

-ZNF74chr22

20754922

+
5UTR-3CDSENST00000470335ENST00000400451KLHL22chr22

20843272

-ZNF74chr22

20754922

+
5UTR-3CDSENST00000470335ENST00000403682KLHL22chr22

20843272

-ZNF74chr22

20754922

+
5UTR-3CDSENST00000470335ENST00000357502KLHL22chr22

20843272

-ZNF74chr22

20754922

+
5UTR-3CDSENST00000470335ENST00000356671KLHL22chr22

20843272

-ZNF74chr22

20754922

+
5UTR-3CDSENST00000470335ENST00000405993KLHL22chr22

20843272

-ZNF74chr22

20754922

+

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FusionProtFeatures for KLHL22_ZNF74


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KLHL22

Q53GT1

ZNF74

Q16587

Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3ubiquitin ligase complex required for chromosome alignment andlocalization of PLK1 at kinetochores. The BCR(KLHL22) ubiquitinligase complex mediates monoubiquitination of PLK1, leading toPLK1 dissociation from phosphoreceptor proteins and subsequentremoval from kinetochores, allowing silencing of the spindleassembly checkpoint (SAC) and chromosome segregation.Monoubiquitination of PLK1 does not lead to PLK1 degradation(PubMed:19995937, PubMed:23455478). The BCR(KLHL22) ubiquitinligase complex is also responsible for the amino acid-stimulated'Lys-48' polyubiquitination and proteasomal degradation of DEPDC5.Through the degradation of DEPDC5, releases the GATOR1 complex-mediated inhibition of the TORC1 pathway. It is therefore an aminoacid-dependent activator within the amino acid-sensing branch ofthe TORC1 pathway, indirectly regulating different cellularprocesses including cell growth and autophagy (PubMed:29769719).{ECO:0000269|PubMed:19995937, ECO:0000269|PubMed:23455478,ECO:0000269|PubMed:29769719}.

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
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+2643_11440645DomainKRAB
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+1543_11440645DomainKRAB
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+0443_11411179DomainKRAB
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+1443_11440613DomainKRAB
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+26248_27040645Zinc fingerC2H2-type 1
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+26276_29840645Zinc fingerC2H2-type 2
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+26304_32640645Zinc fingerC2H2-type 3
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+26332_35440645Zinc fingerC2H2-type 4
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+26360_38240645Zinc fingerC2H2-type 5
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+26388_41040645Zinc fingerC2H2-type 6
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+26416_43840645Zinc fingerC2H2-type 7
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+26444_46640645Zinc fingerC2H2-type 8
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+26472_49440645Zinc fingerC2H2-type 9
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+26500_52240645Zinc fingerC2H2-type 10
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+26528_55040645Zinc fingerC2H2-type 11
TgeneZNF74chr22:20843272chr22:20754922ENST00000356671+26556_57840645Zinc fingerC2H2-type 12
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+15248_27040645Zinc fingerC2H2-type 1
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+15276_29840645Zinc fingerC2H2-type 2
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+15304_32640645Zinc fingerC2H2-type 3
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+15332_35440645Zinc fingerC2H2-type 4
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+15360_38240645Zinc fingerC2H2-type 5
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+15388_41040645Zinc fingerC2H2-type 6
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+15416_43840645Zinc fingerC2H2-type 7
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+15444_46640645Zinc fingerC2H2-type 8
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+15472_49440645Zinc fingerC2H2-type 9
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+15500_52240645Zinc fingerC2H2-type 10
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+15528_55040645Zinc fingerC2H2-type 11
TgeneZNF74chr22:20843272chr22:20754922ENST00000400451+15556_57840645Zinc fingerC2H2-type 12
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+04248_27011179Zinc fingerC2H2-type 1
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+04276_29811179Zinc fingerC2H2-type 2
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+04304_32611179Zinc fingerC2H2-type 3
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+04332_35411179Zinc fingerC2H2-type 4
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+04360_38211179Zinc fingerC2H2-type 5
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+04388_41011179Zinc fingerC2H2-type 6
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+04416_43811179Zinc fingerC2H2-type 7
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+04444_46611179Zinc fingerC2H2-type 8
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+04472_49411179Zinc fingerC2H2-type 9
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+04500_52211179Zinc fingerC2H2-type 10
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+04528_55011179Zinc fingerC2H2-type 11
TgeneZNF74chr22:20843272chr22:20754922ENST00000403682+04556_57811179Zinc fingerC2H2-type 12
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+14248_27040613Zinc fingerC2H2-type 1
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+14276_29840613Zinc fingerC2H2-type 2
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+14304_32640613Zinc fingerC2H2-type 3
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+14332_35440613Zinc fingerC2H2-type 4
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+14360_38240613Zinc fingerC2H2-type 5
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+14388_41040613Zinc fingerC2H2-type 6
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+14416_43840613Zinc fingerC2H2-type 7
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+14444_46640613Zinc fingerC2H2-type 8
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+14472_49440613Zinc fingerC2H2-type 9
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+14500_52240613Zinc fingerC2H2-type 10
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+14528_55040613Zinc fingerC2H2-type 11
TgeneZNF74chr22:20843272chr22:20754922ENST00000405993+14556_57840613Zinc fingerC2H2-type 12

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKLHL22chr22:20843272chr22:20754922ENST00000328879-2750_11775635DomainBTB
HgeneKLHL22chr22:20843272chr22:20754922ENST00000328879-27299_34975635RepeatNote=Kelch 1
HgeneKLHL22chr22:20843272chr22:20754922ENST00000328879-27350_39975635RepeatNote=Kelch 2
HgeneKLHL22chr22:20843272chr22:20754922ENST00000328879-27400_44675635RepeatNote=Kelch 3
HgeneKLHL22chr22:20843272chr22:20754922ENST00000328879-27448_49375635RepeatNote=Kelch 4
HgeneKLHL22chr22:20843272chr22:20754922ENST00000328879-27494_54475635RepeatNote=Kelch 5
HgeneKLHL22chr22:20843272chr22:20754922ENST00000328879-27545_59375635RepeatNote=Kelch 6


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FusionGeneSequence for KLHL22_ZNF74


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 KLHL22_ZNF74


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
KLHL22COPS5, COPS6, KLHL13, UBXN7, FAF1, UBXN1, CUL3, DCUN1D1, NEDD8, HSP90AA1, PLK1, KLHL9, NTRK1, GLUD2, SCARF2, LYRM4, METTL15, ATG4C, KLHL20, SCAF8, NFS1, C7orf55, MICU2, ATPAF2, KLHL26, MICU1, NDUFAF5, NUDCD3, NDUFB9, TRMT6, TMEM223, LYRM7, NOB1, GMNN, RBM15B, NOA1, GBAS, RBM14-RBM4, ZBTB34, CIZ1, EMC7, GLUD1, GFER, ZBTB33, POLDIP3, CCL21, LYRM5, BRCA1ZNF74TRIM28, POLR2A, HSP90AA1, VWCE


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 KLHL22_ZNF74


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 KLHL22_ZNF74


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneZNF74C0036341Schizophrenia1PSYGENET