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Fusion gene ID: 24023 |
FusionGeneSummary for NELFA_QDPR |
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Fusion gene information | Fusion gene name: NELFA_QDPR | Fusion gene ID: 24023 | Hgene | Tgene | Gene symbol | NELFA | QDPR | Gene ID | 7469 | 5860 |
Gene name | negative elongation factor complex member A | quinoid dihydropteridine reductase | |
Synonyms | NELF-A|P/OKcl.15|WHSC2 | DHPR|HDHPR|PKU2|SDR33C1 | |
Cytomap | 4p16.3 | 4p15.32 | |
Type of gene | protein-coding | protein-coding | |
Description | negative elongation factor Awolf-Hirschhorn syndrome candidate 2 protein | dihydropteridine reductase6,7-dihydropteridine reductaseshort chain dehydrogenase/reductase family 33C member 1testis secretory sperm-binding protein Li 236P | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q9H3P2 | P09417 | |
Ensembl transtripts involved in fusion gene | ENST00000382882, ENST00000411638, ENST00000542778, | ENST00000513615, ENST00000281243, ENST00000428702, ENST00000508623, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 1 X 1 X 1=1 |
# samples | 2 | 1 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | GBM | TCGA-06-A6S1-01A | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000382882 | ENST00000513615 | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
intron-3CDS | ENST00000382882 | ENST00000281243 | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
intron-3CDS | ENST00000382882 | ENST00000428702 | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
intron-3CDS | ENST00000382882 | ENST00000508623 | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
intron-3CDS | ENST00000411638 | ENST00000513615 | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
intron-3CDS | ENST00000411638 | ENST00000281243 | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
intron-3CDS | ENST00000411638 | ENST00000428702 | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
intron-3CDS | ENST00000411638 | ENST00000508623 | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
intron-3CDS | ENST00000542778 | ENST00000513615 | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
intron-3CDS | ENST00000542778 | ENST00000281243 | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
intron-3CDS | ENST00000542778 | ENST00000428702 | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
intron-3CDS | ENST00000542778 | ENST00000508623 | NELFA | chr4 | 2043443 | - | QDPR | chr4 | 17506098 | - |
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FusionProtFeatures for NELFA_QDPR |
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Hgene | Tgene |
NELFA | QDPR |
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. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for NELFA_QDPR |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
NELFA | NELFE, NELFB, NELFCD, POLR2A, TCEA2, ATP1A1, APP, POLR2C, YWHAB, HECW2, SIAH1, PRR22, NXF1, NTRK1, POLR2B, SUPT5H, NCBP1, ATL2, INTS12, WIBG, FEZ1, PROSER2, MCM9, IGHMBP2, TMOD4 | QDPR | PAH, 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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for NELFA_QDPR |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for NELFA_QDPR |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | QDPR | C0268465 | Phenylketonuria II | 5 | CTD_human;ORPHANET;UNIPROT |
Tgene | QDPR | C0031485 | Phenylketonurias | 1 | CTD_human |