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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: 28889

FusionGeneSummary for PRPF8_LDHA

check button Fusion gene summary
Fusion gene informationFusion gene name: PRPF8_LDHA
Fusion gene ID: 28889
HgeneTgene
Gene symbol

PRPF8

LDHA

Gene ID

10594

3939

Gene namepre-mRNA processing factor 8lactate dehydrogenase A
SynonymsHPRP8|PRP8|PRPC8|RP13|SNRNP220GSD11|HEL-S-133P|LDHM|PIG19
Cytomap

17p13.3

11p15.1

Type of geneprotein-codingprotein-coding
Descriptionpre-mRNA-processing-splicing factor 8220 kDa U5 snRNP-specific proteinPRP8 homologPRP8 pre-mRNA processing factor 8 homologU5 snRNP-specific protein (220 kD), ortholog of S. cerevisiae Prp8papoptosis-regulated protein 1apoptosis-regulated protein 2L-lactate dehydrogenase A chainLDH muscle subunitLDH-ALDH-Mcell proliferation-inducing gene 19 proteinepididymis secretory sperm binding protein Li 133Plactate dehydrogenase Mproliferation-inducing gene 19renal carcinoma antigen NY-REN-59
Modification date2018052320180522
UniProtAcc

Q6P2Q9

P00338

Ensembl transtripts involved in fusion geneENST00000304992, ENST00000572621, 
ENST00000575116, 		ENST00000422447, 
ENST00000430553, ENST00000396222, 
ENST00000227157, ENST00000540430, 
ENST00000379412, ENST00000542179, 
Fusion gene scores* DoF score7 X 9 X 1=634 X 4 X 1=16
# samples 96
** MAII scorelog2(9/63*10)=0.514573172829758
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/16*10)=1.90689059560852
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: PRPF8 [Title/Abstract] AND LDHA [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
HgenePRPF8

GO:0000244

spliceosomal tri-snRNP complex assembly

20595234

HgenePRPF8

GO:0000398

mRNA splicing, via spliceosome

28781166


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
ChiTaRS3.1BG122659PRPF8chr17

1579226

-LDHAchr11

18428658

+
* 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-shiftENST00000304992ENST00000422447PRPF8chr17

1579226

-LDHAchr11

18428658

+
In-frameENST00000304992ENST00000430553PRPF8chr17

1579226

-LDHAchr11

18428658

+
5CDS-intronENST00000304992ENST00000396222PRPF8chr17

1579226

-LDHAchr11

18428658

+
5CDS-intronENST00000304992ENST00000227157PRPF8chr17

1579226

-LDHAchr11

18428658

+
5CDS-intronENST00000304992ENST00000540430PRPF8chr17

1579226

-LDHAchr11

18428658

+
5CDS-intronENST00000304992ENST00000379412PRPF8chr17

1579226

-LDHAchr11

18428658

+
5CDS-intronENST00000304992ENST00000542179PRPF8chr17

1579226

-LDHAchr11

18428658

+
Frame-shiftENST00000572621ENST00000422447PRPF8chr17

1579226

-LDHAchr11

18428658

+
Frame-shiftENST00000572621ENST00000430553PRPF8chr17

1579226

-LDHAchr11

18428658

+
5CDS-intronENST00000572621ENST00000396222PRPF8chr17

1579226

-LDHAchr11

18428658

+
5CDS-intronENST00000572621ENST00000227157PRPF8chr17

1579226

-LDHAchr11

18428658

+
5CDS-intronENST00000572621ENST00000540430PRPF8chr17

1579226

-LDHAchr11

18428658

+
5CDS-intronENST00000572621ENST00000379412PRPF8chr17

1579226

-LDHAchr11

18428658

+
5CDS-intronENST00000572621ENST00000542179PRPF8chr17

1579226

-LDHAchr11

18428658

+
intron-3CDSENST00000575116ENST00000422447PRPF8chr17

1579226

-LDHAchr11

18428658

+
intron-3CDSENST00000575116ENST00000430553PRPF8chr17

1579226

-LDHAchr11

18428658

+
intron-intronENST00000575116ENST00000396222PRPF8chr17

1579226

-LDHAchr11

18428658

+
intron-intronENST00000575116ENST00000227157PRPF8chr17

1579226

-LDHAchr11

18428658

+
intron-intronENST00000575116ENST00000540430PRPF8chr17

1579226

-LDHAchr11

18428658

+
intron-intronENST00000575116ENST00000379412PRPF8chr17

1579226

-LDHAchr11

18428658

+
intron-intronENST00000575116ENST00000542179PRPF8chr17

1579226

-LDHAchr11

18428658

+

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FusionProtFeatures for PRPF8_LDHA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PRPF8

Q6P2Q9

LDHA

P00338

Functions as a scaffold that mediates the orderedassembly of spliceosomal proteins and snRNAs. Required for theassembly of the U4/U6-U5 tri-snRNP complex. Functions as scaffoldthat positions spliceosomal U2, U5 and U6 snRNAs at splice siteson pre-mRNA substrates, so that splicing can occur. Interacts withboth the 5' and the 3' splice site. {ECO:0000269|PubMed:20595234,ECO:0000303|PubMed:15840809}.

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 PRPF8_LDHA


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_PRPF8_ENST00000304992_chr17_1579226_-_LDHA_ENST00000430553_chr11_18428658_+_21aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_PRPF8_ENST00000304992_chr17_1579226_-_LDHA_ENST00000430553_chr11_18428658_+_65nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_PRPF8_ENST00000304992_chr17_1579226_-_LDHA_ENST00000430553_chr11_18428658_+_3344nt
GAACTCGGGTTGCGCACTTCCCGGCGCTGGGAACGCGGAGCGGACGCAGTCTGGCCGCCATTGCGCTGCGGGGAAAGCGGCCTCTTGTGT
GAGGGCCTGTGGGATTCTCCGGATATGGCCGGAGTGTTTCCTTATCGAGGGCCGGGTAACCCGGTGCCTGGCCCTCTAGCCCCGCTACCG
GACTACATGTCGGAGGAGAAGCTGCAGGAGAAAGCTCGAAAATGGCAGCAATTGCAGGCCAAGCGCTATGCAGAAAAGCGGAAGTTTGGG
TTTGTGGATGCCCAGAAGGAAGACATGCCCCCAGAACATGTCAGGAAGATCATTCGAGACCATGGAGACATGACCAACAGGAAGTTCCGC
CATGACAAAAGGGTTTACTTGGGTGCCCTAAAGTACATGCCCCACGCAGTCCTCAAACTCCTGGAGAACATGCCTATGCCTTGGGAGCAG
ATTCGGGATGTGCCTGTGCTGTACCACATCACTGGAGCCATTTCCTTCGTCAATGAGATTCCCTGGGTCATTGAACCTGTCTACATCTCC
CAGTGGGGGTCAATGTGGATTATGATGCGCCGAGAAAAAAGAGATAGGAGGCATTTCAAGAGGATGCGTTTTCCCCCTTTTGATGATGAG
GAGCCGCCCTTGGACTATGCTGACAACATCCTAGATGTTGAGCCACTGGAGGCCATTCAGCTAGAGCTGGACCCTGAGGAGGACGCCCCT
GTGTTGGACTGGTTCTATGACCACCAGCCGTTGAGGGACAGCAGGAAGTATGTAAATGGCTCCACTTACCAGCGCTGGCAGTTCACACTA
CCTATGATGTCGACTCTCTACCGCCTGGCTAATCAGCTCCTGACAGACTTGGTGGATGACAACTACTTCTACCTGTTTGATTTGAAGGCC
TTCTTTACGTCCAAGGCACTCAATATGGCCATTCCTGGAGGCCCCAAATTTGAACCTCTTGTTCGAGACATCAACCTACAGGATGAAGAC
TGGAATGAATTCAATGATATTAACAAGATTATCATCCGGCAGCCTATCCGCACTGAGTACAAGATTGCTTTTCCTTACTTGTACAACAAT
CTTCCACACCATGTCCACCTCACCTGGTACCATACTCCCAATGTTGTATTCATCAAAACTGAGGATCCTGACTTGCCAGCTTTCTACTTT
GACCCTTTGATCAACCCAATCTCCCATAGGCACTCAGTCAAGAGCCAGGAACCATTGCCGGATGATGATGAGGAATTTGAGCTCCCGGAG
TTTGTGGAGCCCTTCCTGAAGGACACACCCCTCTATACAGACAATACAGCCAATGGCATTGCCCTGCTCTGGGCCCCGCGGCCCTTCAAC
CTACGCTCTGGTCGCACCCGTCGGGCCCTGGACATACCCCTTGTCAAGAACTGGTATCGGGAGCATTGTCCTGCCGGGCAGCCTGTGAAA
GTGAGGGTCTCCTACCAGAAGCTGCTTAAGTACTATGTGCTGAATGCCCTGAAGCATCGGCCCCCTAAGGCTCAAAAGAAGAGGTATTTG
TTCCGCTCCTTCAAAGCCACCAAATTCTTTCAGTCCACAAAGCTGGACTGGGTGGAGGTTGGGCTCCAGGTTTGCCGCCAGGGCTACAAC
ATGCTCAACCTTCTCATTCACCGCAAAAACCTCAACTACCTGCACCTGGACTACAACTTCAACCTCAAGCCTGTGAAAACGCTCACCACC
AAGGAAAGAAAGAAATCTCGTTTTGGGAATGCTTTCCACCTGTGTCGGGAAGTTCTGCGTTTGACTAAGCTGGTGGTGGATAGTCACGTG
CAGTATCGGCTGGGCAATGTGGATGCCTTCCAGCTGGCAGATGGATTGCAGTATATATTTGCCCATGTTGGGCAGTTGACGGGCATGTAT
CGATACAAATACAAGCTGATGCGACAGATTCGCATGTGCAAGGACCTGAAGCATCTCATCTATTATCGTTTCAACACGGGCCCTGTAGGG
AAGGGTCCTGGCTGTGGCTTCTGGGCTGCCGGTTGGCGAGTCTGGCTCTTTTTCATGCGTGGCATTACCCCTTTATTAGAGCGATGGCTT
GGCAACCTCCTGGCCCGGCAGTTTGAAGGTCGACACTCAAAGGGGGTGGCAAAGACAGTAACAAAGCAGCGAGTGGAGTCACATTTTGAC
CTTGAGCTGCGGGCAGCTGTGATGCATGATATTCTGGACATGATGCCTGAGGGGATCAAGCAGAACAAGGCCCGGACAATCCTGCAGCAC
CTCAGTGAAGCCTGGCGCTGCTGGAAAGCCAACATTCCCTGGAAGGTCCCTGGGCTGCCGACGCCCATAGAGAATATGATCCTTCGATAC
GTGAAGGCCAAGGCTGACTGGTGGACCAACACTGCCCACTACAACCGAGAACGGATCCGCCGAGGGGCCACTGTGGACAAGACTGTTTGT
AAAAAGAATCTGGGCCGCCTCACCCGGCTCTATCTGAAGGCAGAACAGGAGCGGCAGCACAACTACCTGAAGGACGGGCCTTACATCACA
GCGGAGGAAGCAGTGGCAGTATATACCACCACAGTGCATTGGTTGGAAAGCCGCAGGTTTTCACCCATCCCATTCCCCCCACTCTCCTAT
AAGCATGACACCAAGTTGCTCATCTTGGCATTGGAGCGGCTCAAGGAAGCTTATAGTGTGAAGTCTCGGTTGAACCAGTCTCAGAGGGAG
GAGCTAGGTCTGATCGAGCAGGCCTACGATAACCCCCACGAGGCGCTGTCCCGCATCAAGCGTCACCTCCTCACACAGAGAGCCTTCAAA
GAGGGTCTTTACGGAATAAAGGATGATGTCTTCCTTAGTGTTCCTTGCATTTTGGGACAGAATGGAATCTCAGACCTTGTGAAGGTGACT
CTGACTTCTGAGGAAGAGGCCCGTTTGAAGAAGAGTGCAGATACACTTTGGGGGATCCAAAAGGAGCTGCAATTTTAAAGTCTTCTGATG
TCATATCATTTCACTGTCTAGGCTACAACAGGATTCTAGGTGGAGGTTGTGCATGTTGTCCTTTTTATCTGATCTGTGATTAAAGCAGTA
ATATTTTAAGATGGACTGGGAAAAACATCAACTCCTGAAGTTAGAAATAAGAATGGTTTGTAAAATCCACAGCTATATCCTGATGCTGGA
TGGTATTAATCTTGTGTAGTCTTCAACTGGTTAGTGTGAAATAGTTCTGCCACCTCTGACGCACCACTGCCAATGCTGTACGTACTGCAT
TTGCCCCTTGAGCCAGGTGGATGTTTACCGTGTGTTATATAACTTCCTGGCTCCTTCACTGAACATGCCTAGTCCAACATTTTTTCCCAG


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FusionGenePPI for PRPF8_LDHA


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
PRPF8CD2BP2, SNRNP40, SNRPB, RNPS1, MYC, RNU11, EFTUD2, ABCA1, USP39, PRPF4, MEPCE, GIGYF2, SRRM1, ZBTB7B, SNW1, PRPF3, UBC, HDAC5, TOP1, SF3A2, SIRT7, HNRNPA1, TCF3, ERG, CUL3, SART1, SERPINB2, PRPF6, SNRNP200, PRPF8, DHX9, SNRPD3, SNRPE, SNRPD1, SF3B3, SNRPD2, SF3B1, SNRPA1, HNRNPU, U2AF1, SNRNP70, SF3A1, PRPF19, CDC5L, SF3B6, HNRNPM, CRNKL1, DDX3X, PRKDC, PRPF4B, SMU1, AAR2, ECD, RPL37A, TRIM55, SART3, RPL6, VTN, HUWE1, RANGAP1, RPS14, S100A9, SEPT7, RPS25, SUPT16H, SEPT2, NOTCH1, EIF4A3, MAGOH, HSP90AA1, FN1, VCAM1, SF3B2, SF3B4, BCAS2, SLU7, WDR83, ZNF830, PCBP1, HNRNPH2, GPKOW, RBM5, SRPK1, ITGA4, SND1, IGSF8, ICAM1, FBXO6, NEDD4, PIN1, RPA1, RPA2, RPA3, WWOX, ASB15, LGR4, STAU1, CDKN1A, SHMT2, NXF1, PHF6, CUL7, OBSL1, CCDC8, UBE2I, SUZ12, EED, RNF2, SIRT6, GCFC2, DDX23, TSSC4, BSG, ZBTB46, ZMYND11, NTRK1, ABAT, CDC40, G3BP2, ISY1-RAB43, ISY1, KPNA4, LUC7L2, MED13, NACA, PIP4K2A, PIP4K2B, PIP4K2C, PLRG1, DHX15, HNRNPR, MED12, MYBBP1A, NOP2, PABPC1, PRPF31, PSMD14, RALY, RPLP0, SRPK2, SRRM2, TUBA4A, USP9X, RANBP2, RNU12, SCARB2, FOXM1, FOXQ1, MCM5, ESR1, MEX3C, AR, U2AF2, TTC27, C1orf131, C9orf78, ZNF746, SNRPF, SNRPN, KIAA1143, SNRPG, EAPP, GPR156, RIOK1, NCL, ZNHIT2, RUVBL1, RUVBL2, SLC7A6OS, URI1, WDR92, TRIM25, YAP1, MTF1LDHAKCNJ11, ABCC9, KAT5, KAT2A, HDAC5, PCNA, PSMA3, PCK1, NDRG1, ISG15, TERF1, TINF2, ACD, POT1, CUL3, CUL5, CDK2, CAND1, AKT1, MDH1, LDHB, ECT2, LIG4, PAXIP1, HNF1A, HSP90AA1, HSP90AB1, FN1, VCAM1, ATF2, METTL21B, ITGA4, LDHA, UPF2, XRN1, YWHAQ, FBXO6, BZW1, CNDP2, GNAI3, GSR, BCCIP, CSE1L, DLD, FTO, KYNU, LDHAL6B, NAGK, PAFAH1B3, PDIA3, C11orf58, SMS, TCEA1, PGD, RPS6KA1, SORD, RPA3, RPA2, RPA1, ASB9, STAU1, HUWE1, FUS, MAPK10, CUL7, OBSL1, CCDC8, RNF2, HNRNPA1, UNK, ABAT, ACADM, ADK, ALDH1B1, ALDH2, ALDH4A1, APRT, ARF4, ARF5, CAT, CCT3, CCT6B, CTSD, ENO1, ETFA, FAH, FAHD1, FH, GAA, GSTO1, IDE, ALDOA, ANXA11, ARF1, BROX, CFL1, CFL2, DSTN, HSPA9, NIT2, RAB1A, RAB1B, RAB5C, SOD1, SUCLG2, TKT, WDR1, MIF, NME1-NME2, NME2, PARK7, PDHA1, PEPD, PGK1, PGM1, PKM, PPIA, PPT1, PRCP, PRDX2, PRDX5, PRKCSH, PSMC2, RAB5A, RAB6B, SDHB, SPR, TALDO1, TPI1, UFD1L, NTRK1, CEP290, AHSA1, PPME1, KIF11, CKAP5, ERCC6L, SKI, MCM2, SQSTM1, CDC73, ZNF746, CDH1, LDHC, COX15, DNM1L, SDHA, SOAT1, VDAC1, TRIM25, BRCA1


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 PRPF8_LDHA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneLDHAP00338DB09118StiripentolL-lactate dehydrogenase A chainsmall moleculeapproved
TgeneLDHAP00338DB02701NicotinamideL-lactate dehydrogenase A chainsmall moleculeapproved|investigational
TgeneLDHAP00338DB11638ArtenimolL-lactate dehydrogenase A chainsmall moleculeapproved|investigational

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RelatedDiseases for PRPF8_LDHA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePRPF8C1838702Retinitis Pigmentosa 132CTD_human;UNIPROT
HgenePRPF8C0019693HIV Infections1CTD_human
TgeneLDHAC0005586Bipolar Disorder1PSYGENET
TgeneLDHAC0011570Mental Depression1PSYGENET
TgeneLDHAC0027051Myocardial Infarction1CTD_human
TgeneLDHAC0027080Myoglobinuria1CTD_human;HPO
TgeneLDHAC0041696Unipolar Depression1PSYGENET
TgeneLDHAC0525045Mood Disorders1PSYGENET
TgeneLDHAC0878544Cardiomyopathies1CTD_human
TgeneLDHAC1269683Major Depressive Disorder1PSYGENET