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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: 16559

FusionGeneSummary for HNRNPDL_HAUS5

check button Fusion gene summary
Fusion gene informationFusion gene name: HNRNPDL_HAUS5
Fusion gene ID: 16559
HgeneTgene
Gene symbol

HNRNPDL

HAUS5

Gene ID

9987

23354

Gene nameheterogeneous nuclear ribonucleoprotein D likeHAUS augmin like complex subunit 5
SynonymsHNRNP|HNRPDL|JKTBP|JKTBP2|LGMD1G|laAUF1KIAA0841|dgt5
Cytomap

4q21.22

19q13.12

Type of geneprotein-codingprotein-coding
Descriptionheterogeneous nuclear ribonucleoprotein D-likeA+U-rich element RNA binding factorAU-rich element RNA-binding factorJKT41-binding proteinhnRNP D-likehnRNP DLprotein laAUF1HAUS augmin-like complex subunit 5
Modification date2018052320180519
UniProtAcc

O14979

O94927

Ensembl transtripts involved in fusion geneENST00000295470, ENST00000349655, 
ENST00000602300, ENST00000502762, 
ENST00000514511, 
ENST00000203166, 
ENST00000379045, 
Fusion gene scores* DoF score5 X 6 X 1=302 X 2 X 1=4
# samples 62
** MAII scorelog2(6/30*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: HNRNPDL [Title/Abstract] AND HAUS5 [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
ChiTaRS3.1D20017HNRNPDLchr4

83347219

-HAUS5chr19

36115879

+
* 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-3UTRENST00000295470ENST00000203166HNRNPDLchr4

83347219

-HAUS5chr19

36115879

+
intron-intronENST00000295470ENST00000379045HNRNPDLchr4

83347219

-HAUS5chr19

36115879

+
intron-3UTRENST00000349655ENST00000203166HNRNPDLchr4

83347219

-HAUS5chr19

36115879

+
intron-intronENST00000349655ENST00000379045HNRNPDLchr4

83347219

-HAUS5chr19

36115879

+
intron-3UTRENST00000602300ENST00000203166HNRNPDLchr4

83347219

-HAUS5chr19

36115879

+
intron-intronENST00000602300ENST00000379045HNRNPDLchr4

83347219

-HAUS5chr19

36115879

+
intron-3UTRENST00000502762ENST00000203166HNRNPDLchr4

83347219

-HAUS5chr19

36115879

+
intron-intronENST00000502762ENST00000379045HNRNPDLchr4

83347219

-HAUS5chr19

36115879

+
intron-3UTRENST00000514511ENST00000203166HNRNPDLchr4

83347219

-HAUS5chr19

36115879

+
intron-intronENST00000514511ENST00000379045HNRNPDLchr4

83347219

-HAUS5chr19

36115879

+

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FusionProtFeatures for HNRNPDL_HAUS5


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

O14979

HAUS5

O94927

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}. Contributes to mitotic spindle assembly, maintenance ofcentrosome integrity and completion of cytokinesis as part of theHAUS augmin-like complex. {ECO:0000269|PubMed:19369198,ECO:0000269|PubMed:19427217}.

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 HNRNPDL_HAUS5


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 HNRNPDL_HAUS5


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


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 HNRNPDL_HAUS5


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 HNRNPDL_HAUS5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHNRNPDLC1836765LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 1G (disorder)1ORPHANET;UNIPROT