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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: 30264

FusionGeneSummary for RALGAPA1_FOXA1

check button Fusion gene summary
Fusion gene informationFusion gene name: RALGAPA1_FOXA1
Fusion gene ID: 30264
HgeneTgene
Gene symbol

RALGAPA1

FOXA1

Gene ID

253959

3169

Gene nameRal GTPase activating protein catalytic alpha subunit 1forkhead box A1
SynonymsGARNL1|GRIPE|RalGAPalpha1|TULIP1|p240HNF3A|TCF3A
Cytomap

14q13.2

14q21.1

Type of geneprotein-codingprotein-coding
Descriptionral GTPase-activating protein subunit alpha-1GAP-related interacting protein to E12GTPase activating Rap/RanGAP domain-like 1Ral GTPase activating protein, alpha subunit 1 (catalytic)tuberin-like protein 1hepatocyte nuclear factor 3-alphaHNF-3-alphaHNF-3ATCF-3Aforkhead box protein A1transcription factor 3A
Modification date2018052320180523
UniProtAcc

Q6GYQ0

P55317

Ensembl transtripts involved in fusion geneENST00000389698, ENST00000307138, 
ENST00000258840, ENST00000382366, 
ENST00000554704, 
ENST00000250448, 
ENST00000540786, ENST00000545425, 
Fusion gene scores* DoF score3 X 3 X 2=185 X 4 X 3=60
# samples 45
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RALGAPA1 [Title/Abstract] AND FOXA1 [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
TgeneFOXA1

GO:0032355

response to estradiol

16087863

TgeneFOXA1

GO:0043065

positive regulation of apoptotic process

19127412

TgeneFOXA1

GO:0045944

positive regulation of transcription by RNA polymerase II

16331276|19127412|20160041


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
TCGALDPRADTCGA-V1-A8MF-01ARALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
* 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-shiftENST00000389698ENST00000250448RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
5CDS-5UTRENST00000389698ENST00000540786RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
5CDS-5UTRENST00000389698ENST00000545425RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
Frame-shiftENST00000307138ENST00000250448RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
5CDS-5UTRENST00000307138ENST00000540786RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
5CDS-5UTRENST00000307138ENST00000545425RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
Frame-shiftENST00000258840ENST00000250448RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
5CDS-5UTRENST00000258840ENST00000540786RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
5CDS-5UTRENST00000258840ENST00000545425RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
Frame-shiftENST00000382366ENST00000250448RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
5CDS-5UTRENST00000382366ENST00000540786RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
5CDS-5UTRENST00000382366ENST00000545425RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
intron-3CDSENST00000554704ENST00000250448RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
intron-5UTRENST00000554704ENST00000540786RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-
intron-5UTRENST00000554704ENST00000545425RALGAPA1chr14

36277936

-FOXA1chr14

38061916

-

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FusionProtFeatures for RALGAPA1_FOXA1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RALGAPA1

Q6GYQ0

FOXA1

P55317

Transcription factor that is involved in embryonicdevelopment, establishment of tissue-specific gene expression andregulation of gene expression in differentiated tissues. Isthought to act as a 'pioneer' factor opening the compactedchromatin for other proteins through interactions with nucleosomalcore histones and thereby replacing linker histones at targetenhancer and/or promoter sites. Binds DNA with the consensussequence 5'-[AC]A[AT]T[AG]TT[GT][AG][CT]T[CT]-3' (By similarity).Proposed to play a role in translating the epigenetic signaturesinto cell type-specific enhancer-driven transcriptional programs.Its differential recruitment to chromatin is dependent ondistribution of histone H3 methylated at 'Lys-5' (H3K4me2) inestrogen-regulated genes. Involved in the development of multipleendoderm-derived organ systems such as liver, pancreas, lung andprostate; FOXA1 and FOXA2 seem to have at least in part redundantroles (By similarity). Modulates the transcriptional activity ofnuclear hormone receptors. Is involved in ESR1-mediatedtranscription; required for ESR1 binding to the NKX2-1 promoter inbreast cancer cells; binds to the RPRM promoter and is requiredfor the estrogen-induced repression of RPRM. Involved inregulation of apoptosis by inhibiting the expression of BCL2.Involved in cell cycle regulation by activating expression ofCDKN1B, alone or in conjunction with BRCA1. Originally describedas a transcription activator for a number of liver genes such asAFP, albumin, tyrosine aminotransferase, PEPCK, etc. Interactswith the cis-acting regulatory regions of these genes. Involved inglucose homeostasis. {ECO:0000250, ECO:0000269|PubMed:16087863,ECO:0000269|PubMed:16331276, ECO:0000269|PubMed:18358809,ECO:0000269|PubMed:19127412, ECO:0000269|PubMed:19917725}.

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 RALGAPA1_FOXA1


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 RALGAPA1_FOXA1


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
RALGAPA1TERF1, TERF2, SLMAP, GFOD1, AP2M1, CEP63, DUSP23, PTPRH, NKIRAS2FOXA1AR, ONECUT1, HDAC7, TLE1, ELAVL1, AHR, SEZ6L2, EED, PIAS1, SATB1, SATB2, NAA40, RECQL, CREB1, HOXB9, NACC1, NFIX, DLX1, DLX5, HOXD13, LDB1, NFIC, NKX2-5, PBX1, UBA7, UBP1, VARS, H2AFY, RCC1, MGME1, RPA2, ALX4, FOXA3, MSH3, PLOD2, HMGA1, KBTBD7, LDB2, TFAP4, PLOD1, KMT2C, NUP153, KRT13, DDX24, UTP20, UBTF, NOL6, RBM19, DDX47, ADAR, UTP18, WDR75, HNRNPH2, UTP14A, DDX56, DDX52, MPHOSPH10, NOL10, TBL3, DDX31, SKIV2L2, GLTSCR2, ESF1, RACGAP1, SSRP1, DDX50, H2AFX, NOP16, GPATCH4, LOC102724159, NSUN2, NOL8, RPL5, ALYREF, KIF23, XRN2, URB2, NOL11, DDX51, EXOSC10, KDM6A, DNTTIP2, POP1, NIP7, RBM34, TARDBP, RRP15, KRI1, REXO4, NOM1, NKRF, SDAD1, IGLC7, NOC4L, PAK1IP1, WDR12, AATF, DEK, CCDC137, RRP9, RCOR3, ODF2, EIF5A, PWP1, LUC7L2, PARN, C9orf114, DSG2, LOC113230, TOP2A, PHF2, CCDC59, YWHAB, DIMT1, UTP11L, DHX37, RRP36, WDR46, PPP1CC, LUC7L, HIST1H3A, DNAJC9, RPLP0, ISG20L2, DDX49, C11orf98, NR2F2, TMPO, RNH1, GAR1, NOL7, RPL13A, NGDN, USP36, GATA3, NSUN5, C14orf169, C3orf17, RALY, IGHG2, MCM7, PNO1, SRSF6, CIRBP, MCM3, PAXIP1, FUBP3, RPL28, WDR5, GRHL2, RPS27, UHRF1, RSL24D1, RPS17, ESR1, DNMT1, EXOSC2, ABT1, RPL10, NME1, ARL6IP4, SF1, GTF2I, DIEXF, CD3EAP, TSR1, RPS19BP1, DHX33, RAB10, PRSS1, HDGF, NOP10, TRIM33, SRSF9, PRDX2, HNRNPUL2, TUBGCP6, YLPM1, EIF1AY, SNRPGP15, DAZAP1, IGKV3-20, C12orf43, MAGOH, ARF3, CPSF7, ASH2L, DSTN, CMSS1, NOSIP, EZR, RBM4, ALKBH5, SEC14L5, SUMO1, L1RE1, PARP2, RPF1, POLR1E, TPT1, C6orf211, TRPS1, RPS5, EXOSC6, EXOSC9, DPY30, SRSF12, EXOSC4, RPL32, SAFB, FIP1L1, CSNK1A1, TXNDC17, GPI, TRA2A, NCOA3, ACTR3C, PINX1, FAM207A, RPL30, DDX42, ARF6, PRPF3, FCF1, SNRPA1, MCTS1, LAS1L, PHF6, DDX55, WBSCR22, POLR1C, STAU1, NCOA6, XPO1, SF3B4, HBD, TSPYL1, EXOSC3, CDK1, CORO7, TLE3, VPS35, AGR2, CCT6A, VRK1, HBA1, CBX5, PSIP1, CHD4, RBMX2, APRT, EXOSC1, MROH8, PRPF6, DNAJB1, LGALS3, CCDC67, ZFP42, RBM25, CHD3, ARPC2, XPO5, DNAH7, TEX10, DNAJA1, GMPS, SEPT11, OSTF1, FAM50A, CSE1L, RRP7A, MARS, GSTM3, PRMT6, PSMD2, ZYX, VWA8, RBM17, ZFP91, RBBP4, KPNA4, AGBL1, B4GAT1, KAT7, HNRNPUL1, MPHOSPH6, COPG1


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 RALGAPA1_FOXA1


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 RALGAPA1_FOXA1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFOXA1C0033578Prostatic Neoplasms2CTD_human
TgeneFOXA1C0015695Fatty Liver1CTD_human
TgeneFOXA1C1458155Mammary Neoplasms1CTD_human