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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: 19112

FusionGeneSummary for KMT2A_ZDHHC7

check button Fusion gene summary
Fusion gene informationFusion gene name: KMT2A_ZDHHC7
Fusion gene ID: 19112
HgeneTgene
Gene symbol

KMT2A

ZDHHC7

Gene ID

4297

55625

Gene namelysine methyltransferase 2Azinc finger DHHC-type containing 7
SynonymsALL-1|CXXC7|HRX|HTRX1|MLL|MLL1|MLL1A|TRX1|WDSTSDHHC7|SERZ-B|SERZ1|ZNF370
Cytomap

11q23.3

16q24.1

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase 2ACXXC-type zinc finger protein 7lysine (K)-specific methyltransferase 2Alysine N-methyltransferase 2Amixed lineage leukemia 1myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)trithorax-likepalmitoyltransferase ZDHHC7DHHC-7Sertoli cell gene with zinc finger domain-I(2)zinc finger DHHC domain-containing protein 7zinc finger protein 370zinc finger, DHHC domain containing 7
Modification date2018051920180523
UniProtAcc

Q03164

Q9NXF8

Ensembl transtripts involved in fusion geneENST00000534358, ENST00000389506, 
ENST00000354520, ENST00000420751, 
ENST00000313732, ENST00000564466, 
ENST00000569488, 
Fusion gene scores* DoF score31 X 72 X 6=133923 X 3 X 2=18
# samples 1293
** MAII scorelog2(129/13392*10)=-3.37592846223973
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KMT2A [Title/Abstract] AND ZDHHC7 [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
HgeneKMT2A

GO:0045944

positive regulation of transcription by RNA polymerase II

20861184

HgeneKMT2A

GO:0051568

histone H3-K4 methylation

19556245

HgeneKMT2A

GO:0065003

protein-containing complex assembly

15199122

HgeneKMT2A

GO:0080182

histone H3-K4 trimethylation

20861184

TgeneZDHHC7

GO:0018345

protein palmitoylation

23034182


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
TCGALDSKCMTCGA-EB-A4XL-01AKMT2Achr11

118307659

+ZDHHC7chr16

85010831

-
* 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-shitENST00000534358ENST00000313732KMT2Achr11

118307659

+ZDHHC7chr16

85010831

-
Frame-shitENST00000534358ENST00000564466KMT2Achr11

118307659

+ZDHHC7chr16

85010831

-
5CDS-5UTRENST00000534358ENST00000569488KMT2Achr11

118307659

+ZDHHC7chr16

85010831

-
Frame-shitENST00000389506ENST00000313732KMT2Achr11

118307659

+ZDHHC7chr16

85010831

-
Frame-shitENST00000389506ENST00000564466KMT2Achr11

118307659

+ZDHHC7chr16

85010831

-
5CDS-5UTRENST00000389506ENST00000569488KMT2Achr11

118307659

+ZDHHC7chr16

85010831

-
Frame-shitENST00000354520ENST00000313732KMT2Achr11

118307659

+ZDHHC7chr16

85010831

-
Frame-shitENST00000354520ENST00000564466KMT2Achr11

118307659

+ZDHHC7chr16

85010831

-
5CDS-5UTRENST00000354520ENST00000569488KMT2Achr11

118307659

+ZDHHC7chr16

85010831

-
intron-3CDSENST00000420751ENST00000313732KMT2Achr11

118307659

+ZDHHC7chr16

85010831

-
intron-3CDSENST00000420751ENST00000564466KMT2Achr11

118307659

+ZDHHC7chr16

85010831

-
intron-5UTRENST00000420751ENST00000569488KMT2Achr11

118307659

+ZDHHC7chr16

85010831

-

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FusionProtFeatures for KMT2A_ZDHHC7


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KMT2A

Q03164

ZDHHC7

Q9NXF8

Palmitoyltransferase with broad specificity.Palmitoylates SNAP25 and DLG4/PSD95 (By similarity). Palmitoylatessex steroid hormone receptors, including ESR1, PGR and AR, therebyregulating their targeting to the plasma membrane and theirfunction in rapid intracellular signaling upon binding of sexhormones (PubMed:22031296). May play a role in folliclestimulation hormone (FSH) activation of testicular Sertoli cells(By similarity). {ECO:0000250|UniProtKB:Q91WU6,ECO:0000250|UniProtKB:Q923G5, ECO:0000269|PubMed:22031296}.

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 KMT2A_ZDHHC7


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 KMT2A_ZDHHC7


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
KMT2APPIE, PPP1R15A, KMT2A, ASH2L, HCFC1, HCFC2, MEN1, RBBP5, WDR5, AVP, INS, OXT, MAP3K5, HDAC1, CTBP1, CBX4, BMI1, CREBBP, SMARCB1, CXXC1, MYB, CTNNB1, SNW1, E2F2, E2F4, E2F6, PSIP1, MLLT4, POLR2A, KAT8, RNF2, TP53, SBF1, MTM1, SET, HIST1H3A, HIST1H4A, KAT6A, ELL, AFF1, AFF4, CDK9, CCNT1, CTR9, LEO1, PAF1, CDC73, WDR61, MLLT3, DOT1L, SKP2, HIST3H3, SVIL, HIST2H3C, SIN3A, MLLT1, RUNX1, CBFB, H3F3A, SIRT7, ASB2, TCEB1, TCEB2, CBX8, TOP1, TAF6, NCL, HECW2, LGR4, CSNK2A2, SENP3, SYMPK, PKN1, PIH1D1, KRAS, TAF1, CHD3, SMARCA2, SMARCC2, SMARCC1, HDAC2, RBBP4, RBBP7, TBP, MBD3, SAP30, RAN, TAF9, TASP1, HIST1H2BG, EWSR1, DYNLT1, KIF11, ING4, ZNF131, ASB7ZDHHC7APP, ESR1, MOV10, NXF1, CKM, TMEM259, REEP5, NDFIP1, TMEM186, MARCH6


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 KMT2A_ZDHHC7


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 KMT2A_ZDHHC7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKMT2AC0023418leukemia2CTD_human
HgeneKMT2AC0023467Leukemia, Myelocytic, Acute2CTD_human
HgeneKMT2AC0023470Myeloid Leukemia2CTD_human
HgeneKMT2AC1961102Precursor Cell Lymphoblastic Leukemia Lymphoma2CTD_human
HgeneKMT2AC0001418Adenocarcinoma1CTD_human
HgeneKMT2AC0005695Bladder Neoplasm1CTD_human
HgeneKMT2AC0007138Carcinoma, Transitional Cell1CTD_human
HgeneKMT2AC0008625Chromosome Aberrations1CTD_human
HgeneKMT2AC0023448Lymphoid leukemia1CTD_human
HgeneKMT2AC0023465Acute monocytic leukemia1CTD_human
HgeneKMT2AC0023479Acute myelomonocytic leukemia1CTD_human
HgeneKMT2AC0036341Schizophrenia1PSYGENET
HgeneKMT2AC0038356Stomach Neoplasms1CTD_human
HgeneKMT2AC0149925Small cell carcinoma of lung1CTD_human
HgeneKMT2AC2239176Liver carcinoma1CTD_human