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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: 16431

FusionGeneSummary for HMGA1_PPEF1

check button Fusion gene summary
Fusion gene informationFusion gene name: HMGA1_PPEF1
Fusion gene ID: 16431
HgeneTgene
Gene symbol

HMGA1

PPEF1

Gene ID

3159

5475

Gene namehigh mobility group AT-hook 1protein phosphatase with EF-hand domain 1
SynonymsHMG-R|HMGA1A|HMGIYPP7|PPEF|PPP7C|PPP7CA
Cytomap

6p21.31

Xp22.13

Type of geneprotein-codingprotein-coding
Descriptionhigh 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-Yserine/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 date2018052320180523
UniProtAcc

P17096

O14829

Ensembl transtripts involved in fusion geneENST00000447654, ENST00000401473, 
ENST00000311487, ENST00000347617, 
ENST00000395004, ENST00000478214, 
ENST00000374116, 
ENST00000361511, 
ENST00000543630, ENST00000359763, 
ENST00000349874, ENST00000471570, 
ENST00000544635, 
Fusion gene scores* DoF score8 X 8 X 3=1922 X 2 X 2=8
# samples 92
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneHMGA1

GO:0035986

senescence-associated heterochromatin focus assembly

16901784

HgeneHMGA1

GO:0090402

oncogene-induced cell senescence

16901784


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
TCGALDBRCATCGA-D8-A1XQ-01AHMGA1chr6

34211295

+PPEF1chrX

18748299

+
* 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-shiftENST00000447654ENST00000361511HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000447654ENST00000543630HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000447654ENST00000359763HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000447654ENST00000349874HMGA1chr6

34211295

+PPEF1chrX

18748299

+
5CDS-3UTRENST00000447654ENST00000471570HMGA1chr6

34211295

+PPEF1chrX

18748299

+
5CDS-intronENST00000447654ENST00000544635HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000401473ENST00000361511HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000401473ENST00000543630HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000401473ENST00000359763HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000401473ENST00000349874HMGA1chr6

34211295

+PPEF1chrX

18748299

+
5CDS-3UTRENST00000401473ENST00000471570HMGA1chr6

34211295

+PPEF1chrX

18748299

+
5CDS-intronENST00000401473ENST00000544635HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000311487ENST00000361511HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000311487ENST00000543630HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000311487ENST00000359763HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000311487ENST00000349874HMGA1chr6

34211295

+PPEF1chrX

18748299

+
5CDS-3UTRENST00000311487ENST00000471570HMGA1chr6

34211295

+PPEF1chrX

18748299

+
5CDS-intronENST00000311487ENST00000544635HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000347617ENST00000361511HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000347617ENST00000543630HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000347617ENST00000359763HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000347617ENST00000349874HMGA1chr6

34211295

+PPEF1chrX

18748299

+
5CDS-3UTRENST00000347617ENST00000471570HMGA1chr6

34211295

+PPEF1chrX

18748299

+
5CDS-intronENST00000347617ENST00000544635HMGA1chr6

34211295

+PPEF1chrX

18748299

+
intron-3CDSENST00000395004ENST00000361511HMGA1chr6

34211295

+PPEF1chrX

18748299

+
intron-3CDSENST00000395004ENST00000543630HMGA1chr6

34211295

+PPEF1chrX

18748299

+
intron-3CDSENST00000395004ENST00000359763HMGA1chr6

34211295

+PPEF1chrX

18748299

+
intron-3CDSENST00000395004ENST00000349874HMGA1chr6

34211295

+PPEF1chrX

18748299

+
intron-3UTRENST00000395004ENST00000471570HMGA1chr6

34211295

+PPEF1chrX

18748299

+
intron-intronENST00000395004ENST00000544635HMGA1chr6

34211295

+PPEF1chrX

18748299

+
3UTR-3CDSENST00000478214ENST00000361511HMGA1chr6

34211295

+PPEF1chrX

18748299

+
3UTR-3CDSENST00000478214ENST00000543630HMGA1chr6

34211295

+PPEF1chrX

18748299

+
3UTR-3CDSENST00000478214ENST00000359763HMGA1chr6

34211295

+PPEF1chrX

18748299

+
3UTR-3CDSENST00000478214ENST00000349874HMGA1chr6

34211295

+PPEF1chrX

18748299

+
3UTR-3UTRENST00000478214ENST00000471570HMGA1chr6

34211295

+PPEF1chrX

18748299

+
3UTR-intronENST00000478214ENST00000544635HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000374116ENST00000361511HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000374116ENST00000543630HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000374116ENST00000359763HMGA1chr6

34211295

+PPEF1chrX

18748299

+
Frame-shiftENST00000374116ENST00000349874HMGA1chr6

34211295

+PPEF1chrX

18748299

+
5CDS-3UTRENST00000374116ENST00000471570HMGA1chr6

34211295

+PPEF1chrX

18748299

+
5CDS-intronENST00000374116ENST00000544635HMGA1chr6

34211295

+PPEF1chrX

18748299

+

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FusionProtFeatures for HMGA1_PPEF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HMGA1

P17096

PPEF1

O14829

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.

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 HMGA1_PPEF1


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 HMGA1_PPEF1


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
HMGA1EWSR1, 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, G3BP1PPEF1CALM1, PPEF1, CALM2, HSPA8


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 HMGA1_PPEF1


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 HMGA1_PPEF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHMGA1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneHMGA1C0020456Hyperglycemia1CTD_human
HgeneHMGA1C0021655Insulin Resistance1CTD_human
HgeneHMGA1C0023269leiomyosarcoma1CTD_human
HgeneHMGA1C0036341Schizophrenia1PSYGENET
HgeneHMGA1C0042138Uterine Neoplasms1CTD_human
HgeneHMGA1C0524620Metabolic Syndrome X1CTD_human