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Fusion gene ID: 17329 |
FusionGeneSummary for IKZF1_PHF14 |
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Fusion gene information | Fusion gene name: IKZF1_PHF14 | Fusion gene ID: 17329 | Hgene | Tgene | Gene symbol | IKZF1 | PHF14 | Gene ID | 10320 | 9678 |
Gene name | IKAROS family zinc finger 1 | PHD finger protein 14 | |
Synonyms | CVID13|Hs.54452|IK1|IKAROS|LYF1|LyF-1|PPP1R92|PRO0758|ZNFN1A1 | - | |
Cytomap | 7p12.2 | 7p21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | DNA-binding protein IkarosCLL-associated antigen KW-6ikaros family zinc finger protein 1lymphoid transcription factor LyF-1protein phosphatase 1, regulatory subunit 92zinc finger protein, subfamily 1A, 1 (Ikaros) | PHD finger protein 14 | |
Modification date | 20180527 | 20180519 | |
UniProtAcc | Q13422 | O94880 | |
Ensembl transtripts involved in fusion gene | ENST00000440768, ENST00000359197, ENST00000343574, ENST00000331340, ENST00000349824, ENST00000357364, ENST00000346667, ENST00000438033, ENST00000439701, ENST00000413698, ENST00000492782, | ENST00000403050, ENST00000445996, ENST00000469407, | |
Fusion gene scores | * DoF score | 5 X 4 X 3=60 | 7 X 5 X 6=210 |
# samples | 6 | 7 | |
** MAII score | log2(6/60*10)=0 | log2(7/210*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: IKZF1 [Title/Abstract] AND PHF14 [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 |
![]() (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 | LUAD | TCGA-44-3917-01A | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
* 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 |
5CDS-intron | ENST00000440768 | ENST00000403050 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000440768 | ENST00000445996 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-3UTR | ENST00000440768 | ENST00000469407 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000359197 | ENST00000403050 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000359197 | ENST00000445996 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-3UTR | ENST00000359197 | ENST00000469407 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000343574 | ENST00000403050 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000343574 | ENST00000445996 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-3UTR | ENST00000343574 | ENST00000469407 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000331340 | ENST00000403050 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000331340 | ENST00000445996 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-3UTR | ENST00000331340 | ENST00000469407 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000349824 | ENST00000403050 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000349824 | ENST00000445996 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-3UTR | ENST00000349824 | ENST00000469407 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000357364 | ENST00000403050 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000357364 | ENST00000445996 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-3UTR | ENST00000357364 | ENST00000469407 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000346667 | ENST00000403050 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000346667 | ENST00000445996 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-3UTR | ENST00000346667 | ENST00000469407 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000438033 | ENST00000403050 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000438033 | ENST00000445996 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-3UTR | ENST00000438033 | ENST00000469407 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000439701 | ENST00000403050 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000439701 | ENST00000445996 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-3UTR | ENST00000439701 | ENST00000469407 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000413698 | ENST00000403050 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-intron | ENST00000413698 | ENST00000445996 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
5CDS-3UTR | ENST00000413698 | ENST00000469407 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
3UTR-intron | ENST00000492782 | ENST00000403050 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
3UTR-intron | ENST00000492782 | ENST00000445996 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
3UTR-3UTR | ENST00000492782 | ENST00000469407 | IKZF1 | chr7 | 50367353 | + | PHF14 | chr7 | 11150977 | + |
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FusionProtFeatures for IKZF1_PHF14 |
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Hgene | Tgene |
IKZF1 | PHF14 |
Transcription regulator of hematopoietic celldifferentiation (PubMed:17934067). Binds gamma-satellite DNA(PubMed:17135265, PubMed:19141594). Plays a role in thedevelopment of lymphocytes, B- and T-cells. Binds and activatesthe enhancer (delta-A element) of the CD3-delta gene. Repressor ofthe TDT (fikzfterminal deoxynucleotidyltransferase) gene duringthymocyte differentiation. Regulates transcription throughassociation with both HDAC-dependent and HDAC-independentcomplexes. Targets the 2 chromatin-remodeling complexes, NuRD andBAF (SWI/SNF), in a single complex (PYR complex), to the beta-globin locus in adult erythrocytes. Increases normal apoptosis inadult erythroid cells. Confers early temporal competence toretinal progenitor cells (RPCs) (By similarity). Function isisoform-specific and is modulated by dominant-negative inactiveisoforms (PubMed:17135265, PubMed:17934067).{ECO:0000250|UniProtKB:Q03267, ECO:0000269|PubMed:10204490,ECO:0000269|PubMed:17135265, ECO:0000269|PubMed:17934067,ECO:0000269|PubMed:19141594}. |
![]() * 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 IKZF1_PHF14 |
![]() (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 IKZF1_PHF14 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
IKZF1 | UBE2I, AP2M1, CTBP1, RBBP8, SIN3A, NCOR2, TBP, GTF2B, SIN3B, HDAC1, CHD4, HDAC2, HDAC4, HDAC5, HDAC7, HDAC3, IKZF4, IKZF5, IKZF2, GATA1, SMARCE1, NUDT21, CSNK1G1, CDK2AP2, IKZF3, RBBP4, CHD3, SMARCA4, NOTCH1, HDAC11, TDG, CRBN, ANKRD11, PRKAB2, BYSL, CKS1B, CTBP2, DCX, DDX6, FGF12, PIN1, PSMA1, PSMA4, RAD51D, SDCBP, SNRPF, DYRK2, AP1M1, MTA1, WTAP, MORF4L2, RWDD2B, IKZF1, MCRS1, MAD2L2, GLRX3, NEK6, MORF4L1, PNKP, SNW1, ISCU, LSM4, FAM50B, ZNF581, SYT17, C1orf109, C19orf66, LMO3, CBX8, SH2D4A, KIF9, GMCL1P1, AEN, C8orf33, SCNM1, NOC4L, ARMC7, FAM214B, FAM161A, SPATC1L, FRMD6, ZNF417, ZMAT2, ALKBH3, CEP57L1, C1orf174, FAM74A4, SH3BP2, MPPED2, NFATC2, NFATC1, MIB2, KLHDC10, POC1A, FOXK2, FOXK1, WDR76, APPBP2, ANKRD27, ZMYND19, KLHDC3, NFS1, MTA3, CUL2, BTBD1, HSD17B4, WDR26, GATAD2A, MKLN1, GATAD2B, RMND5A, RANBP10, MTA2, ARMC8, GALC, POTEI | PHF14 | H2AFY, PCBD2, MOV10, HIST1H2BA, IFI16, DAXX, HDAC1, HNRNPU, TCF20, KAT6A, CDK2AP1, TM9SF4, HMG20A, NLRP3, CEP170P1, H2AFX |
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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 IKZF1_PHF14 |
![]() (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 IKZF1_PHF14 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | IKZF1 | C0009324 | Ulcerative Colitis | 1 | CTD_human |
Hgene | IKZF1 | C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 1 | CTD_human |
Hgene | IKZF1 | C0024141 | Lupus Erythematosus, Systemic | 1 | CTD_human |
Hgene | IKZF1 | C0024299 | Lymphoma | 1 | CTD_human |
Hgene | IKZF1 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Hgene | IKZF1 | C4225173 | IMMUNODEFICIENCY, COMMON VARIABLE, 13 | 1 | ORPHANET;UNIPROT |