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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:RLF-SFPQ

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: RLF-SFPQ
FusionPDB ID: 74220
FusionGDB2.0 ID: 74220
HgeneTgene
Gene symbol

RLF

SFPQ

Gene ID

6018

654780

Gene nameRLF zinc fingersplicing factor proline/glutamine-rich
SynonymsZN-15L|ZNF292LSFPQ
Cytomap

1p34.2

16q24.1

Type of geneprotein-codingncRNA
Descriptionzinc finger protein RlfZn-15 relatedrearranged L-myc fusion gene proteinrearranged L-myc fusion sequencezn-15-related protein-
Modification date2020031320200303
UniProtAcc.

P23246

Ensembl transtripts involved in fusion geneENST idsENST00000372771, ENST00000468598, 
ENST00000357214, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score13 X 7 X 7=63723 X 15 X 8=2760
# samples 1326
** MAII scorelog2(13/637*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(26/2760*10)=-3.40808473863708
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: RLF [Title/Abstract] AND SFPQ [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)RLF(40627308)-SFPQ(35657130), # samples:3
Anticipated loss of major functional domain due to fusion event.RLF-SFPQ seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
RLF-SFPQ seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
RLF-SFPQ seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
RLF-SFPQ seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneRLF

GO:0015074

DNA integration

1851085

HgeneRLF

GO:0051276

chromosome organization

1649386


check buttonFusion gene breakpoints across RLF (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across SFPQ (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BRCATCGA-A2-A0CY-01ARLFchr1

40627308

-SFPQchr1

35657130

-
ChimerDB4BRCATCGA-A2-A0CY-01ARLFchr1

40627308

+SFPQchr1

35657130

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000372771RLFchr140627308+ENST00000357214SFPQchr135657130-308426491559516

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000372771ENST00000357214RLFchr140627308+SFPQchr135657130-0.0003426130.9996574

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>74220_74220_1_RLF-SFPQ_RLF_chr1_40627308_ENST00000372771_SFPQ_chr1_35657130_ENST00000357214_length(amino acids)=516AA_BP=47
MVGRGKMADGKGDAAAVAGAGAEAPAVAGAGDGVETESMVRGHRPVSPAPGASGLRPCLWQLETELREQEVSEVSSLNYCRSFCQGFKAN
LSLLRRPGEKTYTQRCRLFVGNLPADITEDEFKRLFAKYGEPGEVFINKGKGFGFIKLESRALAEIAKAELDDTPMRGRQLRVRFATHAA
ALSVRNLSPYVSNELLEEAFSQFGPIERAVVIVDDRGRSTGKGIVEFASKPAARKAFERCSEGVFLLTTTPRPVIVEPLEQLDDEDGLPE
KLAQKNPMYQKERETPPRFAQHGTFEYEYSQRWKSLDEMEKQQREQVEKNMKDAKDKLESEMEDAYHEHQANLLRQDLMRRQEELRRMEE
LHNQEMQKRKEMQLRQEEERRRREEEMMIRQREMEEQMRRQREESYSRMGYMDPRERDMRMGGGGAMNMGDPYGSGGQKFPPLGGGGGIG

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:40627308/chr1:35657130)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

P23246

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: DNA- and RNA binding protein, involved in several nuclear processes. Essential pre-mRNA splicing factor required early in spliceosome formation and for splicing catalytic step II, probably as a heteromer with NONO. Binds to pre-mRNA in spliceosome C complex, and specifically binds to intronic polypyrimidine tracts. Involved in regulation of signal-induced alternative splicing. During splicing of PTPRC/CD45, a phosphorylated form is sequestered by THRAP3 from the pre-mRNA in resting T-cells; T-cell activation and subsequent reduced phosphorylation is proposed to lead to release from THRAP3 allowing binding to pre-mRNA splicing regulatotry elements which represses exon inclusion. Interacts with U5 snRNA, probably by binding to a purine-rich sequence located on the 3' side of U5 snRNA stem 1b. May be involved in a pre-mRNA coupled splicing and polyadenylation process as component of a snRNP-free complex with SNRPA/U1A. The SFPQ-NONO heteromer associated with MATR3 may play a role in nuclear retention of defective RNAs. SFPQ may be involved in homologous DNA pairing; in vitro, promotes the invasion of ssDNA between a duplex DNA and produces a D-loop formation. The SFPQ-NONO heteromer may be involved in DNA unwinding by modulating the function of topoisomerase I/TOP1; in vitro, stimulates dissociation of TOP1 from DNA after cleavage and enhances its jumping between separate DNA helices. The SFPQ-NONO heteromer binds DNA (PubMed:25765647). The SFPQ-NONO heteromer may be involved in DNA non-homologous end joining (NHEJ) required for double-strand break repair and V(D)J recombination and may stabilize paired DNA ends; in vitro, the complex strongly stimulates DNA end joining, binds directly to the DNA substrates and cooperates with the Ku70/G22P1-Ku80/XRCC5 (Ku) dimer to establish a functional preligation complex. SFPQ is involved in transcriptional regulation. Functions as transcriptional activator (PubMed:25765647). Transcriptional repression is mediated by an interaction of SFPQ with SIN3A and subsequent recruitment of histone deacetylases (HDACs). The SFPQ-NONO-NR5A1 complex binds to the CYP17 promoter and regulates basal and cAMP-dependent transcriptional activity. SFPQ isoform Long binds to the DNA binding domains (DBD) of nuclear hormone receptors, like RXRA and probably THRA, and acts as transcriptional corepressor in absence of hormone ligands. Binds the DNA sequence 5'-CTGAGTC-3' in the insulin-like growth factor response element (IGFRE) and inhibits IGF-I-stimulated transcriptional activity. Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Required for the transcriptional repression of circadian target genes, such as PER1, mediated by the large PER complex through histone deacetylation (By similarity). Required for the assembly of nuclear speckles (PubMed:25765647). Plays a role in the regulation of DNA virus-mediated innate immune response by assembling into the HDP-RNP complex, a complex that serves as a platform for IRF3 phosphorylation and subsequent innate immune response activation through the cGAS-STING pathway (PubMed:28712728). {ECO:0000250|UniProtKB:Q8VIJ6, ECO:0000269|PubMed:10847580, ECO:0000269|PubMed:10858305, ECO:0000269|PubMed:10931916, ECO:0000269|PubMed:11259580, ECO:0000269|PubMed:11525732, ECO:0000269|PubMed:11897684, ECO:0000269|PubMed:15590677, ECO:0000269|PubMed:20932480, ECO:0000269|PubMed:25765647, ECO:0000269|PubMed:28712728, ECO:0000269|PubMed:8045264, ECO:0000269|PubMed:8449401}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSFPQchr1:40627308chr1:35657130ENST00000357214010497_596276.0708.0Coiled coilOntology_term=ECO:0000255,ECO:0000269
TgeneSFPQchr1:40627308chr1:35657130ENST00000357214010571_574276.0708.0Compositional biasNote=Poly-Arg
TgeneSFPQchr1:40627308chr1:35657130ENST00000357214010613_616276.0708.0Compositional biasNote=Poly-Gly
TgeneSFPQchr1:40627308chr1:35657130ENST00000357214010635_641276.0708.0Compositional biasNote=Poly-Gly
TgeneSFPQchr1:40627308chr1:35657130ENST00000357214010297_369276.0708.0DomainRRM 1
TgeneSFPQchr1:40627308chr1:35657130ENST00000357214010371_452276.0708.0DomainRRM 2

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+181127_115279.01915.0Zinc fingerC2H2-type 8
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+181172_119579.01915.0Zinc fingerC2H2-type 9
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+181310_133579.01915.0Zinc fingerC2H2-type 10
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+181362_138779.01915.0Zinc fingerC2H2-type 11
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+181407_143279.01915.0Zinc fingerC2H2-type 12
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+181444_146979.01915.0Zinc fingerC2H2-type 13
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+181549_157479.01915.0Zinc fingerC2H2-type 14
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+18582_60479.01915.0Zinc fingerC2H2-type 1
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+18671_69679.01915.0Zinc fingerC2H2-type 2
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+18714_73679.01915.0Zinc fingerC2H2-type 3
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+18742_76679.01915.0Zinc fingerC2H2-type 4
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+18771_79579.01915.0Zinc fingerC2H2-type 5
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+18801_82579.01915.0Zinc fingerC2H2-type 6
HgeneRLFchr1:40627308chr1:35657130ENST00000372771+18954_97979.01915.0Zinc fingerC2H2-type 7
TgeneSFPQchr1:40627308chr1:35657130ENST0000035721401010_15276.0708.0Compositional biasNote=Poly-Gly
TgeneSFPQchr1:40627308chr1:35657130ENST0000035721401010_266276.0708.0Compositional biasNote=Gln/Glu/Pro-rich
TgeneSFPQchr1:40627308chr1:35657130ENST00000357214010184_188276.0708.0Compositional biasNote=Poly-Pro
TgeneSFPQchr1:40627308chr1:35657130ENST0000035721401020_27276.0708.0Compositional biasNote=Poly-Gly
TgeneSFPQchr1:40627308chr1:35657130ENST0000035721401056_65276.0708.0Compositional biasNote=Poly-Pro
TgeneSFPQchr1:40627308chr1:35657130ENST0000035721401067_71276.0708.0Compositional biasNote=Poly-Gln
TgeneSFPQchr1:40627308chr1:35657130ENST0000035721401095_98276.0708.0Compositional biasNote=Poly-Gln
TgeneSFPQchr1:40627308chr1:35657130ENST0000035721401099_103276.0708.0Compositional biasNote=Poly-Pro
TgeneSFPQchr1:40627308chr1:35657130ENST000003572140109_27276.0708.0RegionNote=3 X 3 AA repeats of R-G-G
TgeneSFPQchr1:40627308chr1:35657130ENST0000035721401019_21276.0708.0RepeatNote=2
TgeneSFPQchr1:40627308chr1:35657130ENST0000035721401025_27276.0708.0RepeatNote=3
TgeneSFPQchr1:40627308chr1:35657130ENST000003572140109_11276.0708.0RepeatNote=1


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors
SFPQNONO, FHL2, EXOSC5, HN1, SFPQ, UBC, PTBP1, TOP1, CDC5L, ZMYM2, SP1, SP3, HDAC1, HDAC2, SIN3A, NR3C1, PITX3, NR4A2, RAC1, SRRM1, SRRM2, Rxra, Nono, Sin3a, Thra, SMARCD1, SMARCA2, AR, TOPORS, MAPK1, PRKCI, TADA2A, POT1, SMN1, SNW1, Mapk13, STAT6, HDAC5, AI837181, Mki67, EBNA-LP, PPP1CA, SNRPA, U2AF2, SREK1, RAD21, CEBPA, ELAVL1, ARRB2, SIRT7, HNRNPA1, TSG101, NR2C1, CBLL1, CDK2, COPS5, AP2M1, PARK7, PPARGC1A, U2AF1, SF3B1, EFTUD2, TCERG1, HNRNPR, HNRNPC, SNRPA1, SRSF5, HNRNPM, SRSF7, SF3B3, SRSF3, SRSF4, SNRPD2, SF3A1, DDX21, PHF5A, SART1, HTATSF1, ILF3, TOP2B, HNRNPL, SLTM, SSR4, DNAJC19, TIMM10, TPR, STAG2, SON, THRAP3, SMC3, UTP14A, SMARCA5, TXN, ZC3HAV1, VTN, APEX1, UQCRFS1P1, TOMM40, TIMM9, TIMM23B, BTK, FN1, VCAM1, RNF43, CSNK2A1, SMAD5, ITGA4, PAN2, CD81, PARK2, PRPF40A, WBP4, APBB1, GAS7, PIN1, WWOX, rev, RPA3, RPA2, RPA1, ERG, ASB3, ASB12, ASB18, STAU1, MDM2, HUWE1, FUS, MOV10, NXF1, PPARG, HIST3H3, CUL7, OBSL1, CCDC8, UBE2I, EED, ESR1, ORC6, RPS6KB2, UNK, ACAT1, CARS, COX5A, DPH5, HNRNPA2B1, HNRNPA3, HNRNPD, IMMT, KHDRBS1, LMO7, NDUFS3, NUP210, PFKM, SERBP1, DDX17, PGK1, TARS, WBP11, UQCRC2, YTHDF2, SFN, NTRK1, SCARNA22, KRAS, MUS81, AHSA1, Lin7c, Tsc1, Rpl35, Cxxc1, CRY1, MCM2, MCM5, EGFR, RC3H1, ZNF746, RBMXL1, PSPC1, DIDO1, MMADHC, PRRC2A, EWSR1, LSM14A, FAM98A, DHPS, SYNCRIP, SMARCC1, PRMT5, SMARCC2, NCOA5, PRRC2C, ALYREF, SF1, RBM27, HIP1R, CYLD, CD2BP2, TRIM25, UBE2A, BRCA1, LMNA, PAWR, CTNNB1, PCBP1, CUL4B, UBE2M, PRPF8, AAR2, PIH1D1, TNIP2, YLPM1, NKX2-1, RNF4, CHD3, CHD4, TNF, RIOK1, BPLF1, FGF11, HEXIM1, MEPCE, LARP7, RUNX1, RNF123, AGR2, RECQL4, DCPS, TNRC6A, PIK3R1, RNF144A, REST, ZFP36L2, MYC, CDK9, TP53BP1, MDC1, KIAA1429, METTL3, METTL14, PSMA3, ACTC1, RAD51D, PHB, ARMC12, CHEK2, USP14, NR2C2, ZFYVE21, XRCC6, ATXN3, VRK1, SND1, HIST1H4A, DYRK1A, MAB21L2, SCARB2, SNRNP70, Dppa3, TAF15, MATR3, GSK3B, BIRC3, WWP2, ERCC6, PPIA, PLEKHA4, PINK1, FANCD2, HCVgp1, LINC01554, MIRLET7A1, MIRLET7A2, MIRLET7A3, MIRLET7B, MIRLET7C, MIRLET7D, MIRLET7E, MIRLET7F1, MIRLET7F2, MIRLET7G, MIRLET7I, MIR98, MIR1-1, MIR1-2, MIR7-1, MIR7-2, MIR7-3, MIR9-1, MIR9-2, MIR9-3, MIR10B, MIR15A, MIR15B, MIR16-1, MIR16-2, MIR17, MIR18A, MIR18B, MIR19A, MIR19B1, MIR19B2, MIR20A, MIR20B, MIR21, MIR25, MIR29A, MIR29B1, MIR29B2, MIR29C, MIR31, MIR34A, MIR34B, MIR34C, MIR92A1, MIR92A2, MIR93, MIR106A, MIR106B, MIR107, MIR122, MIR128-1, MIR128-2, MIR138-1, MIR138-2, MIR140, MIR141, MIR143, MIR145, MIR155, MIR199A1, MIR199A2, MIR200A, MIR200B, MIR200C, MIR205, MIR206, MIR214, MIR221, MIR222, MIR363, MIR429, MIR451A, VIM, NFKB1, ZC3H18, PRKD1, MTHFS, UTP20, WDR7, SLC12A2, ATP11C, IGFBP3, PRKDC, WAPAL, MAU2, LAMTOR5, CELF1, NEK4, DUX4, DUX4L9, CIT, CHMP4B, CHMP4C, KIF14, KIF20A, KIF23, PRC1, C8orf82, HNRNPH1, INS, NDN, BIN1, DHX9, HULC, ZNF263, BRD4, NUPR1, RBM45, CIC, Apc2, TARDBP, RBM39, FBP1, LGALS9, YWHAE, IFI16, WDR76, EIF3F, NEAT1, LOC100506753, vpr, EIF5A, RPL23A, NUDT21, NUFIP2, RPS19, NDC80, PPIL4, DDX42, TSPYL5, METTL17, CPSF7, PPP1R10, SP100, FAM76B, MKRN1, KDF1, DDX58, OGT, CD274, SPOP, UFL1, DDRGK1, TP53, TRIM37, ATG10, FZR1, FMR1, FXR1, FXR2, WDR5, NAA40, BGLT3, PTP4A3, ANKRD50, TMEM14B, TRIM68, LONP1, CYCS, BTF3, SLFN11, EP300, FBXW7, CTTN, CTBP1, DMRTB1, TFIP11, EXOSC8, CEP55, KRT31, SF3B4, Ewsr1, Rbm14, Pspc1, Cpsf6, Cstf2t, CCNF, HECTD1, nsp14, PER2, PEG10,


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
RLF
SFPQall structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to RLF-SFPQ


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to RLF-SFPQ


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSFPQC4518356MiT family translocation renal cell carcinoma2ORPHANET
TgeneSFPQC0019693HIV Infections1CTD_human
TgeneSFPQC0037274Dermatologic disorders1CTD_human
TgeneSFPQC0274861Arsenic Poisoning, Inorganic1CTD_human
TgeneSFPQC0274862Nervous System, Organic Arsenic Poisoning1CTD_human
TgeneSFPQC0311375Arsenic Poisoning1CTD_human
TgeneSFPQC0751851Arsenic Encephalopathy1CTD_human
TgeneSFPQC0751852Arsenic Induced Polyneuropathy1CTD_human
TgeneSFPQC4505456HIV Coinfection1CTD_human