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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: 17235

FusionGeneSummary for IGHG1_IKZF1

check button Fusion gene summary
Fusion gene informationFusion gene name: IGHG1_IKZF1
Fusion gene ID: 17235
HgeneTgene
Gene symbol

IGHG1

IKZF1

Gene ID

3500

10320

Gene nameimmunoglobulin heavy constant gamma 1 (G1m marker)IKAROS family zinc finger 1
Synonyms-CVID13|Hs.54452|IK1|IKAROS|LYF1|LyF-1|PPP1R92|PRO0758|ZNFN1A1
Cytomap

14q32.33

7p12.2

Type of geneotherprotein-coding
Descriptionconstant region of heavy chain of IgG1immunoglobulin gamma 1 (Gm marker)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)
Modification date2018052320180527
UniProtAcc

P01857

Q13422

Ensembl transtripts involved in fusion geneENST00000390548, ENST00000440768, 
ENST00000359197, ENST00000343574, 
ENST00000331340, ENST00000349824, 
ENST00000357364, ENST00000346667, 
ENST00000438033, ENST00000439701, 
ENST00000413698, ENST00000492782, 
Fusion gene scores* DoF score43 X 54 X 5=116106 X 6 X 3=108
# samples 596
** MAII scorelog2(59/11610*10)=-4.29850920750373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IGHG1 [Title/Abstract] AND IKZF1 [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
ChiTaRS3.1AA814418IGHG1chr22

23243555

-IKZF1chr7

50450312

-
* 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
intron-3CDSENST00000390548ENST00000440768IGHG1chr22

23243555

-IKZF1chr7

50450312

-
intron-3CDSENST00000390548ENST00000359197IGHG1chr22

23243555

-IKZF1chr7

50450312

-
intron-3CDSENST00000390548ENST00000343574IGHG1chr22

23243555

-IKZF1chr7

50450312

-
intron-3CDSENST00000390548ENST00000331340IGHG1chr22

23243555

-IKZF1chr7

50450312

-
intron-intronENST00000390548ENST00000349824IGHG1chr22

23243555

-IKZF1chr7

50450312

-
intron-intronENST00000390548ENST00000357364IGHG1chr22

23243555

-IKZF1chr7

50450312

-
intron-intronENST00000390548ENST00000346667IGHG1chr22

23243555

-IKZF1chr7

50450312

-
intron-intronENST00000390548ENST00000438033IGHG1chr22

23243555

-IKZF1chr7

50450312

-
intron-intronENST00000390548ENST00000439701IGHG1chr22

23243555

-IKZF1chr7

50450312

-
intron-intronENST00000390548ENST00000413698IGHG1chr22

23243555

-IKZF1chr7

50450312

-
intron-intronENST00000390548ENST00000492782IGHG1chr22

23243555

-IKZF1chr7

50450312

-

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FusionProtFeatures for IGHG1_IKZF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IGHG1

P01857

IKZF1

Q13422

Constant region of immunoglobulin heavy chains.Immunoglobulins, also known as antibodies, are membrane-bound orsecreted glycoproteins produced by B lymphocytes. In therecognition phase of humoral immunity, the membrane-boundimmunoglobulins serve as receptors which, upon binding of aspecific antigen, trigger the clonal expansion and differentiationof B lymphocytes into immunoglobulins-secreting plasma cells.Secreted immunoglobulins mediate the effector phase of humoralimmunity, which results in the elimination of bound antigens(PubMed:22158414, PubMed:20176268). The antigen binding site isformed by the variable domain of one heavy chain, together withthat of its associated light chain. Thus, each immunoglobulin hastwo antigen binding sites with remarkable affinity for aparticular antigen. The variable domains are assembled by aprocess called V-(D)-J rearrangement and can then be subjected tosomatic hypermutations which, after exposure to antigen andselection, allow affinity maturation for a particular antigen(PubMed:17576170, PubMed:20176268). {ECO:0000303|PubMed:17576170,ECO:0000303|PubMed:20176268, ECO:0000303|PubMed:22158414}. 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}.

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 IGHG1_IKZF1


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 IGHG1_IKZF1


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


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 IGHG1_IKZF1


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 IGHG1_IKZF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIGHG1C0027121Myositis1CTD_human
HgeneIGHG1C0032460Polycystic Ovary Syndrome1CTD_human
TgeneIKZF1C0009324Ulcerative Colitis1CTD_human
TgeneIKZF1C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
TgeneIKZF1C0024141Lupus Erythematosus, Systemic1CTD_human
TgeneIKZF1C0024299Lymphoma1CTD_human
TgeneIKZF1C1961102Precursor Cell Lymphoblastic Leukemia Lymphoma1CTD_human
TgeneIKZF1C4225173IMMUNODEFICIENCY, COMMON VARIABLE, 131ORPHANET;UNIPROT