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Fusion gene ID: 19112 |
FusionGeneSummary for KMT2A_ZDHHC7 |
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Fusion gene information | Fusion gene name: KMT2A_ZDHHC7 | Fusion gene ID: 19112 | Hgene | Tgene | Gene symbol | KMT2A | ZDHHC7 | Gene ID | 4297 | 55625 |
Gene name | lysine methyltransferase 2A | zinc finger DHHC-type containing 7 | |
Synonyms | ALL-1|CXXC7|HRX|HTRX1|MLL|MLL1|MLL1A|TRX1|WDSTS | DHHC7|SERZ-B|SERZ1|ZNF370 | |
Cytomap | 11q23.3 | 16q24.1 | |
Type of gene | protein-coding | protein-coding | |
Description | histone-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-like | palmitoyltransferase 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 date | 20180519 | 20180523 | |
UniProtAcc | Q03164 | Q9NXF8 | |
Ensembl transtripts involved in fusion gene | ENST00000534358, ENST00000389506, ENST00000354520, ENST00000420751, | ENST00000313732, ENST00000564466, ENST00000569488, | |
Fusion gene scores | * DoF score | 31 X 72 X 6=13392 | 3 X 3 X 2=18 |
# samples | 129 | 3 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | KMT2A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20861184 |
Hgene | KMT2A | GO:0051568 | histone H3-K4 methylation | 19556245 |
Hgene | KMT2A | GO:0065003 | protein-containing complex assembly | 15199122 |
Hgene | KMT2A | GO:0080182 | histone H3-K4 trimethylation | 20861184 |
Tgene | ZDHHC7 | GO:0018345 | protein palmitoylation | 23034182 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | SKCM | TCGA-EB-A4XL-01A | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000534358 | ENST00000313732 | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
Frame-shift | ENST00000534358 | ENST00000564466 | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
5CDS-5UTR | ENST00000534358 | ENST00000569488 | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
Frame-shift | ENST00000389506 | ENST00000313732 | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
Frame-shift | ENST00000389506 | ENST00000564466 | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
5CDS-5UTR | ENST00000389506 | ENST00000569488 | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
Frame-shift | ENST00000354520 | ENST00000313732 | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
Frame-shift | ENST00000354520 | ENST00000564466 | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
5CDS-5UTR | ENST00000354520 | ENST00000569488 | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
intron-3CDS | ENST00000420751 | ENST00000313732 | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
intron-3CDS | ENST00000420751 | ENST00000564466 | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
intron-5UTR | ENST00000420751 | ENST00000569488 | KMT2A | chr11 | 118307659 | + | ZDHHC7 | chr16 | 85010831 | - |
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FusionProtFeatures for KMT2A_ZDHHC7 |
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Hgene | Tgene |
KMT2A | ZDHHC7 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for KMT2A_ZDHHC7 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
KMT2A | PPIE, 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, ASB7 | ZDHHC7 | APP, ESR1, MOV10, NXF1, CKM, TMEM259, REEP5, NDFIP1, TMEM186, MARCH6 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for KMT2A_ZDHHC7 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for KMT2A_ZDHHC7 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | KMT2A | C0023418 | leukemia | 2 | CTD_human |
Hgene | KMT2A | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human |
Hgene | KMT2A | C0023470 | Myeloid Leukemia | 2 | CTD_human |
Hgene | KMT2A | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 2 | CTD_human |
Hgene | KMT2A | C0001418 | Adenocarcinoma | 1 | CTD_human |
Hgene | KMT2A | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Hgene | KMT2A | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
Hgene | KMT2A | C0008625 | Chromosome Aberrations | 1 | CTD_human |
Hgene | KMT2A | C0023448 | Lymphoid leukemia | 1 | CTD_human |
Hgene | KMT2A | C0023465 | Acute monocytic leukemia | 1 | CTD_human |
Hgene | KMT2A | C0023479 | Acute myelomonocytic leukemia | 1 | CTD_human |
Hgene | KMT2A | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | KMT2A | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | KMT2A | C0149925 | Small cell carcinoma of lung | 1 | CTD_human |
Hgene | KMT2A | C2239176 | Liver carcinoma | 1 | CTD_human |