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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: 24023

FusionGeneSummary for NELFA_QDPR

check button Fusion gene summary
Fusion gene informationFusion gene name: NELFA_QDPR
Fusion gene ID: 24023
HgeneTgene
Gene symbol

NELFA

QDPR

Gene ID

7469

5860

Gene namenegative elongation factor complex member Aquinoid dihydropteridine reductase
SynonymsNELF-A|P/OKcl.15|WHSC2DHPR|HDHPR|PKU2|SDR33C1
Cytomap

4p16.3

4p15.32

Type of geneprotein-codingprotein-coding
Descriptionnegative elongation factor Awolf-Hirschhorn syndrome candidate 2 proteindihydropteridine reductase6,7-dihydropteridine reductaseshort chain dehydrogenase/reductase family 33C member 1testis secretory sperm-binding protein Li 236P
Modification date2018052220180523
UniProtAcc

Q9H3P2

P09417

Ensembl transtripts involved in fusion geneENST00000382882, ENST00000411638, 
ENST00000542778, 
ENST00000513615, 
ENST00000281243, ENST00000428702, 
ENST00000508623, 
Fusion gene scores* DoF score2 X 2 X 2=81 X 1 X 1=1
# samples 21
** MAII scorelog2(2/8*10)=1.32192809488736log2(1/1*10)=3.32192809488736
Context

PubMed: NELFA [Title/Abstract] AND QDPR [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

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
TCGALDGBMTCGA-06-A6S1-01ANELFAchr4

2043443

-QDPRchr4

17506098

-
* 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
intron-3CDSENST00000382882ENST00000513615NELFAchr4

2043443

-QDPRchr4

17506098

-
intron-3CDSENST00000382882ENST00000281243NELFAchr4

2043443

-QDPRchr4

17506098

-
intron-3CDSENST00000382882ENST00000428702NELFAchr4

2043443

-QDPRchr4

17506098

-
intron-3CDSENST00000382882ENST00000508623NELFAchr4

2043443

-QDPRchr4

17506098

-
intron-3CDSENST00000411638ENST00000513615NELFAchr4

2043443

-QDPRchr4

17506098

-
intron-3CDSENST00000411638ENST00000281243NELFAchr4

2043443

-QDPRchr4

17506098

-
intron-3CDSENST00000411638ENST00000428702NELFAchr4

2043443

-QDPRchr4

17506098

-
intron-3CDSENST00000411638ENST00000508623NELFAchr4

2043443

-QDPRchr4

17506098

-
intron-3CDSENST00000542778ENST00000513615NELFAchr4

2043443

-QDPRchr4

17506098

-
intron-3CDSENST00000542778ENST00000281243NELFAchr4

2043443

-QDPRchr4

17506098

-
intron-3CDSENST00000542778ENST00000428702NELFAchr4

2043443

-QDPRchr4

17506098

-
intron-3CDSENST00000542778ENST00000508623NELFAchr4

2043443

-QDPRchr4

17506098

-

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FusionProtFeatures for NELFA_QDPR


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

Q9H3P2

QDPR

P09417

Essential component of the NELF complex, a complex thatnegatively regulates the elongation of transcription by RNApolymerase II. The NELF complex, which acts via an associationwith the DSIF complex and causes transcriptional pausing, iscounteracted by the P-TEFb kinase complex. The NELF complex isinvolved in HIV-1 latency possibly involving recruitment of PCF11to paused RNA polymerase II. In vitro, the NELFA:NELFCD subcomplexbinds to ssDNA and ssRNA in a sequence- and structure-dependentmanner. Probably required to interact with the RNA polymerase IIcomplex. {ECO:0000269|PubMed:10199401,ECO:0000269|PubMed:12563561, ECO:0000269|PubMed:12612062,ECO:0000305}. The product of this enzyme, tetrahydrobiopterin (BH-4),is an essential cofactor for phenylalanine, tyrosine, andtryptophan hydroxylases.

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 NELFA_QDPR


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 NELFA_QDPR


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
NELFANELFE, NELFB, NELFCD, POLR2A, TCEA2, ATP1A1, APP, POLR2C, YWHAB, HECW2, SIAH1, PRR22, NXF1, NTRK1, POLR2B, SUPT5H, NCBP1, ATL2, INTS12, WIBG, FEZ1, PROSER2, MCM9, IGHMBP2, TMOD4QDPRPAH, CUL3, CUL1, COPS5, CAND1, APOA1, IQCB1, QDPR, ANKRD13A, HSPE1, PDCD6, ABAT, ARFIP1, GART, GLO1, HDHD1, HSD17B10, HSD17B8, NCAM2, PREP, RAE1, SOD1, SPR, TANGO2, CASP8, KRAS


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 NELFA_QDPR


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 NELFA_QDPR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneQDPRC0268465Phenylketonuria II5CTD_human;ORPHANET;UNIPROT
TgeneQDPRC0031485Phenylketonurias1CTD_human