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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: 28884

FusionGeneSummary for PRPF6_GATA5

check button Fusion gene summary
Fusion gene informationFusion gene name: PRPF6_GATA5
Fusion gene ID: 28884
HgeneTgene
Gene symbol

PRPF6

GATA5

Gene ID

24148

140628

Gene namepre-mRNA processing factor 6GATA binding protein 5
SynonymsANT-1|ANT1|C20orf14|Prp6|RP60|SNRNP102|TOM|U5-102K|hPrp6CHTD5|GATAS|bB379O24.1
Cytomap

20q13.33

20q13.33

Type of geneprotein-codingprotein-coding
Descriptionpre-mRNA-processing factor 6PRP6 homologPRP6 pre-mRNA processing factor 6 homologU5 snRNP-associated 102 kDa proteinU5-102 kDa proteinandrogen receptor N-terminal domain transactivating protein-1p102 U5 small nuclear ribonucleoprotein particle-binditranscription factor GATA-5GATA binding factor-5
Modification date2018052320180523
UniProtAcc

O94906

Q9BWX5

Ensembl transtripts involved in fusion geneENST00000535781, ENST00000252997, 
Fusion gene scores* DoF score6 X 6 X 5=1802 X 2 X 1=4
# samples 62
** MAII scorelog2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/4*10)=2.32192809488736
Context

PubMed: PRPF6 [Title/Abstract] AND GATA5 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
Tumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgenePRPF6

GO:0000398

mRNA splicing, via spliceosome

28781166

HgenePRPF6

GO:0045944

positive regulation of transcription by RNA polymerase II

16414017

TgeneGATA5

GO:0045944

positive regulation of transcription by RNA polymerase II

14986113

TgeneGATA5

GO:0060575

intestinal epithelial cell differentiation

9566909


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-BH-A0HL-01APRPF6chr20

62631112

+GATA5chr20

61041607

-
* 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
In-frameENST00000535781ENST00000252997PRPF6chr20

62631112

+GATA5chr20

61041607

-

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FusionProtFeatures for PRPF6_GATA5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PRPF6

O94906

GATA5

Q9BWX5

Transcription factor required during cardiovasculardevelopment (PubMed:23289003). Plays an important role in thetranscriptional program(s) that underlies smooth muscle celldiversity (By similarity). Binds to the functionally importantCEF-1 nuclear protein binding site in the cardiac-specificslow/cardiac troponin C transcriptional enhancer(PubMed:25543888). {ECO:0000250|UniProtKB:P97489,ECO:0000269|PubMed:23289003, ECO:0000269|PubMed:25543888}.

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
HgenePRPF6chr20:62631112chr20:61041607ENST00000535781+82067_72341902Compositional biasNote=Poly-Asp
TgeneGATA5chr20:62631112chr20:61041607ENST00000252997-27243_267233398Zinc fingerGATA-type 2

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePRPF6chr20:62631112chr20:61041607ENST00000535781+820384_416341902RepeatNote=HAT 1
HgenePRPF6chr20:62631112chr20:61041607ENST00000535781+820418_444341902RepeatNote=HAT 2
HgenePRPF6chr20:62631112chr20:61041607ENST00000535781+820445_476341902RepeatNote=HAT 3
HgenePRPF6chr20:62631112chr20:61041607ENST00000535781+820554_586341902RepeatNote=HAT 4
HgenePRPF6chr20:62631112chr20:61041607ENST00000535781+820588_620341902RepeatNote=HAT 5
HgenePRPF6chr20:62631112chr20:61041607ENST00000535781+820622_654341902RepeatNote=HAT 6
HgenePRPF6chr20:62631112chr20:61041607ENST00000535781+820689_721341902RepeatNote=HAT 7
HgenePRPF6chr20:62631112chr20:61041607ENST00000535781+820723_755341902RepeatNote=HAT 8
HgenePRPF6chr20:62631112chr20:61041607ENST00000535781+820855_887341902RepeatNote=HAT 9
TgeneGATA5chr20:62631112chr20:61041607ENST00000252997-27189_213233398Zinc fingerGATA-type 1


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FusionGeneSequence for PRPF6_GATA5


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.
>In-frame_PRPF6_ENST00000535781_chr20_62631112_+_GATA5_ENST00000252997_chr20_61041607_-_506aa
MNKKKKPFLGMPAPLGYVPGLGRGATGFTTRSDIGPARDANDPVDDRHAPPGKRTVGDQMKKNQAADDDDEDLNDTNYDEFNGYAGSLFS
SGPYEKDDEEADAIYAALDKRMDERRKERREQREKEEIEKYRMERPKIQQQFSDLKRKLAEVTEEEWLSIPEVGDARNKRQRNPRYEKLT
PVPDSFFAKHLQTGENHTSVDPRQTQFGGLNTPYPGGLNTPYPGGMTPGLMTPGTGELDMRKIGQARNTLMDMRLSQVSDSVSGQTVVDP
KGYLTDLNSMIPTHGGDINDIKKARLLLKSVRETNPHHPPAWIASARLEEVTGKLQVARNLIMKGTEMCPKSSSRRAGLCCTNCHTTNTT
LWRRNSEGEPVCNACGLYMKLHGVPRPLAMKKESIQTRKRKPKTIAKARGSSGSTRNASASPSAVASTDSSAATSKAKPSLASPVCPGPS


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_PRPF6_ENST00000535781_chr20_62631112_+_GATA5_ENST00000252997_chr20_61041607_-_1518nt
ATGAACAAGAAGAAGAAACCGTTCCTAGGGATGCCCGCGCCCCTCGGCTACGTGCCGGGGCTGGGCCGGGGCGCCACTGGCTTCACCACG
CGGTCAGACATTGGGCCCGCCCGTGATGCAAATGACCCTGTGGATGATCGCCATGCACCCCCAGGCAAGAGAACCGTTGGGGACCAGATG
AAGAAAAATCAGGCTGCTGACGATGACGACGAGGATCTAAATGACACCAATTACGATGAGTTTAATGGCTATGCTGGGAGCCTCTTCTCA
AGTGGACCCTACGAGAAAGATGATGAGGAAGCAGATGCTATCTATGCAGCCCTGGATAAAAGGATGGATGAAAGAAGAAAAGAAAGACGG
GAGCAAAGGGAGAAAGAAGAAATAGAGAAATATCGTATGGAACGCCCCAAAATCCAACAGCAGTTCTCAGACCTCAAGAGGAAGTTGGCA
GAAGTCACAGAAGAAGAGTGGCTGAGCATCCCCGAGGTTGGCGATGCCAGAAATAAACGTCAGCGGAACCCACGCTATGAGAAGCTGACC
CCTGTTCCTGACAGTTTCTTTGCCAAACATTTACAGACCGGAGAGAACCATACCTCAGTGGATCCCCGACAAACTCAATTTGGAGGTCTT
AACACACCCTATCCAGGTGGACTAAACACTCCATACCCAGGTGGAATGACGCCAGGACTGATGACACCTGGCACAGGTGAGCTGGACATG
AGGAAGATTGGCCAAGCGAGGAACACTCTGATGGACATGAGGCTGAGCCAGGTGTCTGACTCCGTGAGTGGACAGACCGTCGTTGACCCC
AAAGGCTACCTGACGGATTTAAATTCCATGATCCCGACACACGGAGGAGACATCAATGATATCAAGAAGGCGCGACTGCTCCTCAAGTCT
GTTCGGGAGACGAACCCTCATCACCCGCCAGCCTGGATTGCATCAGCCCGCCTGGAAGAAGTCACTGGGAAGCTACAAGTAGCTCGGAAC
CTTATCATGAAGGGGACGGAGATGTGCCCCAAGTCCTCGTCCCGCCGCGCCGGCCTCTGCTGCACCAACTGCCACACGACCAACACCACG
CTGTGGCGGCGGAACTCGGAGGGGGAGCCCGTGTGCAATGCCTGCGGCCTCTACATGAAGCTGCACGGGGTGCCGCGGCCTCTGGCTATG
AAGAAGGAAAGCATCCAGACACGGAAGCGGAAGCCAAAGACCATCGCCAAGGCCAGGGGCTCCTCAGGATCCACAAGGAATGCCTCGGCC
TCCCCATCTGCTGTCGCCAGCACTGACAGCTCAGCAGCCACTTCGAAAGCCAAGCCCAGCCTGGCGTCCCCAGTGTGCCCTGGGCCCAGC
ATGGCCCCCCAGGCCTCTGGCCAGGAGGATGACTCTCTTGCCCCCGGCCACTTGGAGTTCAAGTTCGAGCCTGAGGACTTTGCCTTCCCC


* Fusion transcript sequences (Full-length transcript).
>In-frame_PRPF6_ENST00000535781_chr20_62631112_+_GATA5_ENST00000252997_chr20_61041607_-_2968nt
GGCGACACTTTGCTACGGAGTGCATCGGACGTCGAAGCCTAGAGTCTCTGCGTCTTTCCCTCTTCCGCTGCCTCATTCCTTTCCTTCCTA
GCCTTGGTCGTCGCCGCCACCATGAACAAGAAGAAGAAACCGTTCCTAGGGATGCCCGCGCCCCTCGGCTACGTGCCGGGGCTGGGCCGG
GGCGCCACTGGCTTCACCACGCGGTCAGACATTGGGCCCGCCCGTGATGCAAATGACCCTGTGGATGATCGCCATGCACCCCCAGGCAAG
AGAACCGTTGGGGACCAGATGAAGAAAAATCAGGCTGCTGACGATGACGACGAGGATCTAAATGACACCAATTACGATGAGTTTAATGGC
TATGCTGGGAGCCTCTTCTCAAGTGGACCCTACGAGAAAGATGATGAGGAAGCAGATGCTATCTATGCAGCCCTGGATAAAAGGATGGAT
GAAAGAAGAAAAGAAAGACGGGAGCAAAGGGAGAAAGAAGAAATAGAGAAATATCGTATGGAACGCCCCAAAATCCAACAGCAGTTCTCA
GACCTCAAGAGGAAGTTGGCAGAAGTCACAGAAGAAGAGTGGCTGAGCATCCCCGAGGTTGGCGATGCCAGAAATAAACGTCAGCGGAAC
CCACGCTATGAGAAGCTGACCCCTGTTCCTGACAGTTTCTTTGCCAAACATTTACAGACCGGAGAGAACCATACCTCAGTGGATCCCCGA
CAAACTCAATTTGGAGGTCTTAACACACCCTATCCAGGTGGACTAAACACTCCATACCCAGGTGGAATGACGCCAGGACTGATGACACCT
GGCACAGGTGAGCTGGACATGAGGAAGATTGGCCAAGCGAGGAACACTCTGATGGACATGAGGCTGAGCCAGGTGTCTGACTCCGTGAGT
GGACAGACCGTCGTTGACCCCAAAGGCTACCTGACGGATTTAAATTCCATGATCCCGACACACGGAGGAGACATCAATGATATCAAGAAG
GCGCGACTGCTCCTCAAGTCTGTTCGGGAGACGAACCCTCATCACCCGCCAGCCTGGATTGCATCAGCCCGCCTGGAAGAAGTCACTGGG
AAGCTACAAGTAGCTCGGAACCTTATCATGAAGGGGACGGAGATGTGCCCCAAGTCCTCGTCCCGCCGCGCCGGCCTCTGCTGCACCAAC
TGCCACACGACCAACACCACGCTGTGGCGGCGGAACTCGGAGGGGGAGCCCGTGTGCAATGCCTGCGGCCTCTACATGAAGCTGCACGGG
GTGCCGCGGCCTCTGGCTATGAAGAAGGAAAGCATCCAGACACGGAAGCGGAAGCCAAAGACCATCGCCAAGGCCAGGGGCTCCTCAGGA
TCCACAAGGAATGCCTCGGCCTCCCCATCTGCTGTCGCCAGCACTGACAGCTCAGCAGCCACTTCGAAAGCCAAGCCCAGCCTGGCGTCC
CCAGTGTGCCCTGGGCCCAGCATGGCCCCCCAGGCCTCTGGCCAGGAGGATGACTCTCTTGCCCCCGGCCACTTGGAGTTCAAGTTCGAG
CCTGAGGACTTTGCCTTCCCCTCCACGGCCCCAAGCCCCCAGGCTGGCCTCAGGGGGGCTCTGCGCCAAGAGGCCTGGTGTGCGCTGGCC
TTGGCCTAGGTCCCCAGGCCAGCCCATGTCAGGGGAACAGCCTGGAACAGACCACCCACTGAGTCACCTCCGTGCCTGCTTTGCTCCAGC
ACAGCAGAGACCAGCAGGCCCCCCAACCCAGAGACTGGGTCTGCTGGAGTCTCCACACAGTGGTGGGGAGGCCTTCTGGACAGACGGCAG
TCGGGCCCCAGAGCAAGAAGGCTGGTGAGGGAAGGGCTCAGCTTCCCACCCCACGTACAGCAAGGGACTCCCCAGGTGCGGCCCAAGGCT
CCGGACCACACTGGCCCCCTGCGGCGGAGGCCAACGCAGGGCACCACCACCACCAACTTGAATTCCGTCATCAATGCTCACCGTCAATAT
GTTTACAAGTTGTAGCAGTTGGGGGAAAACAGTCAACCTCCCAGTGTAAAACCAAGATTCCCAGTGAAGCACCTGAGGCCAAGCAGGGGA
GAGGAATGAGGGGAGCAGCTGGACATGGGCCTCCTGAGGCCTCGGGGCTGTCCTTCATTGCCCACATGGATAGACGGAGCTGTGGTGCAG
AGAACTTTTCCCGCAACAGGTGCAGGACTGCCAGGGATCGGAGTGCGGGCCGCGCACGGTGCCAGGATTCCGCCGAGGGGAAGCCGCTCA
CATTGCAGTCATCACAGACTTACGCACTTGTTTGGACAGTTTTTCCAGAGGGGATGGGAAAGGGCCTTGTTCTAGCTGAATCTGTGTATC
ATGACCATTTCTGACAGGCAGAATGAATTGTCTGGTAGCCCTGTCCTGACCCATCCAAGCGCTGTTGGGGCTGGTGGTGACGTGGTCACA
TGTCCTGGCATATCTGGGGCCACGCAGTTTAGTCTCTTGTCCCAGGAGAATTGTTAGTGACCCCTCTTTCTCTTGCAAGCCCCCTCCACA
CTGGGTTGGATGATACCTTAATGAGTGACGCTGGCGAGAGGCACCCTACCCGACGCAGCTGTGAATGGCCGGTGATGTATGTCAGGAGGC
CACAGGGAGCAGAGGAGCGGGGCAGGCAGCCACAGGGCCCTGCGGGGAGCACATCCTCGCCTCCGTCCGGCTGCTGCCCTTCAACAACAA
GCCCTGATTTTTCCAGCAATGCCAGAAACCTGGATTTTAAGTCTTCCAATTTGATTCAAAAATATTTTTAACATTGTGAGCCAGCTAGAC
CCCCAGTGCACCACCCCATATTGAAAAACAGTTGTCTGGCATCAGCTTCAGGAGCGGGTCCGGTCATTCTGAAACTGTCCCTCCAGAGGT


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FusionGenePPI for PRPF6_GATA5


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
PRPF6TXNL4B, CD2BP2, SNRNP40, RNPS1, RNU11, ARAF, RAF1, TIMM44, PRPF6, YWHAB, AR, USP39, PRPF4, MEPCE, GIGYF2, SMARCA2, TADA2A, MYC, SF3A2, SIRT7, PRPF31, SART1, TXNL4A, EFTUD2, SNRNP200, PRPF8, PRPF3, SNRPD1, SNRPD3, SF3B3, SNRPD2, SNRPA1, SRSF7, NHP2L1, HNRNPM, U2AF1, SRSF5, U2AF2, PRPF19, EIF4A3, ACIN1, SRRM2, SAP18, SON, TPBG, THRAP3, NCSTN, NPM1, RPS13, RPS24, DDX18, RBM14, SUPT16H, TRA2A, ZNF326, NOTCH1, IK, CTNNB1, MMS19, HDAC11, PRPF4B, PARK2, RPA1, RPA2, RPA3, PASK, CUL7, OBSL1, CCDC8, EED, GCFC2, DDX23, TSSC4, BSG, LUC7L2, SF3A1, SNRPA, SF3A3, RNU12, NTRK1, SCARNA22, TP53, KIF21B, RAB4B, SNW1, CDC5L, MEX3C, RC3H1, ZNF746, SNRPG, SNRPE, SNRPN, SNRPF, KIAA1143, GPR156, RBM42, SMU1, RIOK1, ZNHIT2, AAR2, EAPP, DLST, PDHA1, FOXA1, TRIM25, BRCA1, LMNAGATA5KLF2


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 PRPF6_GATA5


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 PRPF6_GATA5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRPF6C3151434RETINITIS PIGMENTOSA 601UNIPROT
TgeneGATA5C0009404Colorectal Neoplasms1CTD_human