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Fusion gene ID: 16431 |
FusionGeneSummary for HMGA1_PPEF1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: HMGA1_PPEF1 | Fusion gene ID: 16431 | Hgene | Tgene | Gene symbol | HMGA1 | PPEF1 | Gene ID | 3159 | 5475 |
Gene name | high mobility group AT-hook 1 | protein phosphatase with EF-hand domain 1 | |
Synonyms | HMG-R|HMGA1A|HMGIY | PP7|PPEF|PPP7C|PPP7CA | |
Cytomap | 6p21.31 | Xp22.13 | |
Type of gene | protein-coding | protein-coding | |
Description | high mobility group protein HMG-I/HMG-Yhigh mobility group protein A1high mobility group protein Rhigh-mobility group (nonhistone chromosomal) protein isoforms I and Ynonhistone chromosomal high-mobility group protein HMG-I/HMG-Y | serine/threonine-protein phosphatase with EF-hands 1protein phosphatase 7, catalytic subunit, alpha isozymeprotein phosphatase with EF calcium-binding domainprotein phosphatase, EF-hand calcium binding domain 1protein phosphatase, serine/threonine typ | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P17096 | O14829 | |
Ensembl transtripts involved in fusion gene | ENST00000447654, ENST00000401473, ENST00000311487, ENST00000347617, ENST00000395004, ENST00000478214, ENST00000374116, | ENST00000361511, ENST00000543630, ENST00000359763, ENST00000349874, ENST00000471570, ENST00000544635, | |
Fusion gene scores | * DoF score | 8 X 8 X 3=192 | 2 X 2 X 2=8 |
# samples | 9 | 2 | |
** MAII score | log2(9/192*10)=-1.09310940439148 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/8*10)=1.32192809488736 | |
Context | PubMed: HMGA1 [Title/Abstract] AND PPEF1 [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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | HMGA1 | GO:0035986 | senescence-associated heterochromatin focus assembly | 16901784 |
Hgene | HMGA1 | GO:0090402 | oncogene-induced cell senescence | 16901784 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | BRCA | TCGA-D8-A1XQ-01A | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000447654 | ENST00000361511 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000447654 | ENST00000543630 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000447654 | ENST00000359763 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000447654 | ENST00000349874 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
5CDS-3UTR | ENST00000447654 | ENST00000471570 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
5CDS-intron | ENST00000447654 | ENST00000544635 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000401473 | ENST00000361511 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000401473 | ENST00000543630 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000401473 | ENST00000359763 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000401473 | ENST00000349874 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
5CDS-3UTR | ENST00000401473 | ENST00000471570 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
5CDS-intron | ENST00000401473 | ENST00000544635 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000311487 | ENST00000361511 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000311487 | ENST00000543630 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000311487 | ENST00000359763 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000311487 | ENST00000349874 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
5CDS-3UTR | ENST00000311487 | ENST00000471570 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
5CDS-intron | ENST00000311487 | ENST00000544635 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000347617 | ENST00000361511 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000347617 | ENST00000543630 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000347617 | ENST00000359763 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000347617 | ENST00000349874 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
5CDS-3UTR | ENST00000347617 | ENST00000471570 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
5CDS-intron | ENST00000347617 | ENST00000544635 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
intron-3CDS | ENST00000395004 | ENST00000361511 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
intron-3CDS | ENST00000395004 | ENST00000543630 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
intron-3CDS | ENST00000395004 | ENST00000359763 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
intron-3CDS | ENST00000395004 | ENST00000349874 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
intron-3UTR | ENST00000395004 | ENST00000471570 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
intron-intron | ENST00000395004 | ENST00000544635 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
3UTR-3CDS | ENST00000478214 | ENST00000361511 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
3UTR-3CDS | ENST00000478214 | ENST00000543630 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
3UTR-3CDS | ENST00000478214 | ENST00000359763 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
3UTR-3CDS | ENST00000478214 | ENST00000349874 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
3UTR-3UTR | ENST00000478214 | ENST00000471570 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
3UTR-intron | ENST00000478214 | ENST00000544635 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000374116 | ENST00000361511 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000374116 | ENST00000543630 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000374116 | ENST00000359763 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
Frame-shift | ENST00000374116 | ENST00000349874 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
5CDS-3UTR | ENST00000374116 | ENST00000471570 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
5CDS-intron | ENST00000374116 | ENST00000544635 | HMGA1 | chr6 | 34211295 | + | PPEF1 | chrX | 18748299 | + |
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FusionProtFeatures for HMGA1_PPEF1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
HMGA1 | PPEF1 |
HMG-I/Y bind preferentially to the minor groove of A+Trich regions in double-stranded DNA. It is suggested that theseproteins could function in nucleosome phasing and in the 3'-endprocessing of mRNA transcripts. They are also involved in thetranscription regulation of genes containing, or in closeproximity to A+T-rich regions. | May have a role in the recovery or adaptation responseof photoreceptors. May have a role in development. |
Retention 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 . * 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 HMGA1_PPEF1 |
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 HMGA1_PPEF1 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
HMGA1 | EWSR1, SP1, CEBPB, ELF1, NFYA, POU3F1, ATF2, JUN, IRF1, BANF1, CHD1, PRMT6, NPM1, PARP1, PPARG, PRKCA, RARA, CREBBP, POU2F1, POU2F2, KAT2B, NFKB1, TP53, RN7SK, ORC6, ORC2, CBX7, HDAC2, CDK2, TERF2, FN1, HSP90AA1, CSNK2A1, PAN2, CDK1, NCL, PSIP1, EIF2S2, RCC1, HNRNPD, PPP1R8, HNRNPAB, HNRNPDL, DNAJC8, HNRNPA1, HMGB1, HMGB3, HMGB2, SYNCRIP, CWC27, METAP2, SSB, PA2G4, OLA1, APEX1, ANXA2, GTF2F2, XRCC6, HNRNPL, HSPA1A, PTBP1, PCBP1, ANXA1, PCBP2, HTT, UPF2, UBE2I, NCOR2, CUL7, OBSL1, APP, SRPK2, AP4M1, EMC2, RACGAP1, ZSCAN5A, CREB1, NFATC1, FOXA1, FOXE1, HEMGN, TRIM29, PCGF1, DPPA4, NANOG, POU5F1, C4orf27, EGFR, CDC14B, G3BP1 | PPEF1 | CALM1, PPEF1, CALM2, HSPA8 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for HMGA1_PPEF1 |
Drugs targeting genes involved in this fusion gene. (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 HMGA1_PPEF1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HMGA1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Hgene | HMGA1 | C0020456 | Hyperglycemia | 1 | CTD_human |
Hgene | HMGA1 | C0021655 | Insulin Resistance | 1 | CTD_human |
Hgene | HMGA1 | C0023269 | leiomyosarcoma | 1 | CTD_human |
Hgene | HMGA1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | HMGA1 | C0042138 | Uterine Neoplasms | 1 | CTD_human |
Hgene | HMGA1 | C0524620 | Metabolic Syndrome X | 1 | CTD_human |