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Fusion gene ID: 16562 |
FusionGeneSummary for HNRNPDL_SKAP2 |
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Fusion gene information | Fusion gene name: HNRNPDL_SKAP2 | Fusion gene ID: 16562 | Hgene | Tgene | Gene symbol | HNRNPDL | SKAP2 | Gene ID | 9987 | 8935 |
Gene name | heterogeneous nuclear ribonucleoprotein D like | src kinase associated phosphoprotein 2 | |
Synonyms | HNRNP|HNRPDL|JKTBP|JKTBP2|LGMD1G|laAUF1 | PRAP|RA70|SAPS|SCAP2|SKAP-HOM|SKAP55R | |
Cytomap | 4q21.22 | 7p15.2 | |
Type of gene | protein-coding | protein-coding | |
Description | heterogeneous nuclear ribonucleoprotein D-likeA+U-rich element RNA binding factorAU-rich element RNA-binding factorJKT41-binding proteinhnRNP D-likehnRNP DLprotein laAUF1 | src kinase-associated phosphoprotein 2Fyn-associated phosphoprotein SKAP55 homologuePyk2/RAFTK-associated proteinSKAP-55HOMSKAP55 homologretinoic acid-induced protein 70src family-associated phosphoprotein 2src kinase-associated phosphoprotein of 5 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | O14979 | O75563 | |
Ensembl transtripts involved in fusion gene | ENST00000295470, ENST00000349655, ENST00000602300, ENST00000502762, ENST00000514511, | ENST00000345317, ENST00000539623, ENST00000489977, | |
Fusion gene scores | * DoF score | 5 X 6 X 1=30 | 6 X 6 X 5=180 |
# samples | 6 | 8 | |
** MAII score | log2(6/30*10)=1 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(8/180*10)=-1.16992500144231 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: HNRNPDL [Title/Abstract] AND SKAP2 [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 |
ChiTaRS3.1 | CA406851 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
* 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 | ENST00000295470 | ENST00000345317 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-intron | ENST00000295470 | ENST00000539623 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-intron | ENST00000295470 | ENST00000489977 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-3CDS | ENST00000349655 | ENST00000345317 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-intron | ENST00000349655 | ENST00000539623 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-intron | ENST00000349655 | ENST00000489977 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-3CDS | ENST00000602300 | ENST00000345317 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-intron | ENST00000602300 | ENST00000539623 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-intron | ENST00000602300 | ENST00000489977 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-3CDS | ENST00000502762 | ENST00000345317 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-intron | ENST00000502762 | ENST00000539623 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-intron | ENST00000502762 | ENST00000489977 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-3CDS | ENST00000514511 | ENST00000345317 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-intron | ENST00000514511 | ENST00000539623 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
intron-intron | ENST00000514511 | ENST00000489977 | HNRNPDL | chr4 | 83350466 | - | SKAP2 | chr7 | 26904023 | - |
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FusionProtFeatures for HNRNPDL_SKAP2 |
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Hgene | Tgene |
HNRNPDL | SKAP2 |
Acts as a transcriptional regulator. Promotestranscription repression. Promotes transcription activation indifferentiated myotubes (By similarity). Binds to double- andsingle-stranded DNA sequences. Binds to the transcriptionsuppressor CATR sequence of the COX5B promoter (By similarity).Binds with high affinity to RNA molecules that contain AU-richelements (AREs) found within the 3'-UTR of many proto-oncogenesand cytokine mRNAs. Binds both to nuclear and cytoplasmic poly(A)mRNAs. Binds to poly(G) and poly(A), but not to poly(U) or poly(C)RNA homopolymers. Binds to the 5'-ACUAGC-3' RNA consensussequence. {ECO:0000250, ECO:0000269|PubMed:9538234}. | May be involved in B-cell and macrophage adhesionprocesses. In B-cells, may act by coupling the B-cell receptor(BCR) to integrin activation. May play a role in src signalingpathway. {ECO:0000269|PubMed:12893833,ECO:0000269|PubMed:9837776}. |
![]() * 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 HNRNPDL_SKAP2 |
![]() (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 HNRNPDL_SKAP2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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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 HNRNPDL_SKAP2 |
![]() (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 HNRNPDL_SKAP2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | HNRNPDL | C1836765 | LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder) | 1 | ORPHANET;UNIPROT |
Tgene | SKAP2 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |