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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: 3761

FusionGeneSummary for B9D2_HNRNPL

check button Fusion gene summary
Fusion gene informationFusion gene name: B9D2_HNRNPL
Fusion gene ID: 3761
HgeneTgene
Gene symbol

B9D2

HNRNPL

Gene ID

80776

3191

Gene nameB9 domain containing 2heterogeneous nuclear ribonucleoprotein L
SynonymsICIS-1|JBTS34|MKS10|MKSR2HNRPL|P/OKcl.14|hnRNP-L
Cytomap

19q13.2

19q13.2

Type of geneprotein-codingprotein-coding
DescriptionB9 domain-containing protein 2B9 protein domain 2MKS1-related protein 2involved in cIlia stability-1heterogeneous nuclear ribonucleoprotein LhnRNP L
Modification date2018052220180519
UniProtAcc

Q9BPU9

P14866

Ensembl transtripts involved in fusion geneENST00000243578, ENST00000601597, 
ENST00000221419, ENST00000600873, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 3 X 2=12
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: B9D2 [Title/Abstract] AND HNRNPL [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
TCGARVSTADTCGA-CG-4477-01AB9D2chr19

41863802

-HNRNPLchr19

39327420

-
* 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
In-frameENST00000243578ENST00000221419B9D2chr19

41863802

-HNRNPLchr19

39327420

-
Frame-shiftENST00000243578ENST00000600873B9D2chr19

41863802

-HNRNPLchr19

39327420

-
intron-3CDSENST00000601597ENST00000221419B9D2chr19

41863802

-HNRNPLchr19

39327420

-
intron-3CDSENST00000601597ENST00000600873B9D2chr19

41863802

-HNRNPLchr19

39327420

-

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FusionProtFeatures for B9D2_HNRNPL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
B9D2

Q9BPU9

HNRNPL

P14866

Component of the tectonic-like complex, a complexlocalized at the transition zone of primary cilia and acting as abarrier that prevents diffusion of transmembrane proteins betweenthe cilia and plasma membranes. {ECO:0000269|PubMed:21763481}. Splicing factor binding to exonic or intronic sites andacting as either an activator or repressor of exon inclusion.Exhibits a binding preference for CA-rich elements(PubMed:11809897, PubMed:22570490, PubMed:24164894,PubMed:25623890, PubMed:26051023). Component of the heterogeneousnuclear ribonucleoprotein (hnRNP) complexes and associated withmost nascent transcripts (PubMed:2687284). Associates, togetherwith APEX1, to the negative calcium responsive element (nCaRE) B2of the APEX2 promoter (PubMed:11809897).{ECO:0000269|PubMed:11809897, ECO:0000269|PubMed:22570490,ECO:0000269|PubMed:25623890, ECO:0000269|PubMed:26051023,ECO:0000269|PubMed:2687284}.

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
TgeneHNRNPLchr19:41863802chr19:39327420ENST00000600873-1113495_583437457DomainRRM 4

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneB9D2chr19:41863802chr19:39327420ENST00000243578-342_11871176DomainB9
TgeneHNRNPLchr19:41863802chr19:39327420ENST00000221419-1113335_382570590Compositional biasNote=Pro-rich
TgeneHNRNPLchr19:41863802chr19:39327420ENST00000221419-111339_89570590Compositional biasNote=Gly-rich
TgeneHNRNPLchr19:41863802chr19:39327420ENST00000600873-1113335_382437457Compositional biasNote=Pro-rich
TgeneHNRNPLchr19:41863802chr19:39327420ENST00000600873-111339_89437457Compositional biasNote=Gly-rich
TgeneHNRNPLchr19:41863802chr19:39327420ENST00000221419-1113102_176570590DomainRRM 1
TgeneHNRNPLchr19:41863802chr19:39327420ENST00000221419-1113193_270570590DomainRRM 2
TgeneHNRNPLchr19:41863802chr19:39327420ENST00000221419-1113382_478570590DomainRRM 3
TgeneHNRNPLchr19:41863802chr19:39327420ENST00000221419-1113495_583570590DomainRRM 4
TgeneHNRNPLchr19:41863802chr19:39327420ENST00000600873-1113102_176437457DomainRRM 1
TgeneHNRNPLchr19:41863802chr19:39327420ENST00000600873-1113193_270437457DomainRRM 2
TgeneHNRNPLchr19:41863802chr19:39327420ENST00000600873-1113382_478437457DomainRRM 3


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FusionGeneSequence for B9D2_HNRNPL


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.
>In-frame_B9D2_ENST00000243578_chr19_41863802_-_HNRNPL_ENST00000221419_chr19_39327420_-_19aa


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_B9D2_ENST00000243578_chr19_41863802_-_HNRNPL_ENST00000221419_chr19_39327420_-_59nt


* Fusion transcript sequences (Full-length transcript).
>In-frame_B9D2_ENST00000243578_chr19_41863802_-_HNRNPL_ENST00000221419_chr19_39327420_-_827nt
AGGGGAGGAGCCTGCTGTTGCCCCAGCAACAACCACGGAAACCAAGACGAGCGCGGTCGCGGAAGTATCGCGGCTTACATATCTCGCAGC
CAGGCGGGTCCTGGGAGAGGCGCGAGCCAGGCCTGGTCGGCGCCCGCGGAGAAAAGAAGCAGTCAAGCCCATGAACTACAACCCCGGTTG
CCGCTTTCTCCTCTCCTAACCGTTAAGTGCGCTAAGGGCCATGGCTGAGGTGCACGTGATCGGGCAGATCATAGGGGCCAGCGGTTTCTC
GGAAAGTAGCCTCTTCTGCAAGTGGGGCATTCACACAGGGGCGGCATGGAAGCTCCTGTCAGGCGTGCGGGAGGGCCAAACGCAAGTGGA
CACCCCGCAGATAGGGGACATGGCTTACTGGTCCCACCCCATCGACCTGCACTTCGCCACCAAAGGTCTTCAAGATGGTCCATACCCTTA
CACTCTGAAGTTGTGTTTCTCCACTGCTCAGCACGCCTCCTAATTAGGTGCCTAGGAAGAGTCCCATCTGAGCAGGAAGACATTTCTCTT
TCCTTTATGCCATTTTTTGTTTTTGTTATTTGCAAAAGATCTTGTATTCCTTTTTTTTTTTTTTTTTTTTTTTTTTAAATGCTAGGTTTG
TAGAGGCTTACTTAACCTTAATGGAAACGCTGGAAATCTGCAGGGGGAGGGAGAGGGGAACTGTTATCTCCCAAGATTAACCTTCACTTT
TAAAAAATTATTGTACATGTGATTTTTTTTTTTCCTGTTCATACATTTGTGCTGCCCATGTACTCTTGGCACATTTCAATAAAATTGTTT


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FusionGenePPI for B9D2_HNRNPL


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
B9D2TMEM231, ANP32A, ARID1B, B9D1, BCOR, CNOT7, CPSF7, DCAF7, DNMT1, EIF4ENIF1, FAM208A, FUBP3, GRIP1, HNRNPM, IBTK, KDM1A, CCAR2, LEMD3, LIN54, MATR3, MKS1, MOB4, MTR, NCOA5, NOP58, NUP107, NUP133, NUP153, NUP160, NUP43, NUP50, NUP85, NUP98, NUPL1, PASK, PCGF1, PPIH, PWP2, RAVER1, RBM12B, RBM20, RCOR1, RGPD3, RPRD2, SEC13, SRSF10, SUGP2, TCTN2, TCTN3, TJP1, TNRC6B, WDR33, YLPM1, YTHDF1, YTHDF2, YTHDF3, ZNF318, ZNF326, CKB, CC2D2A, TCTN1HNRNPLPTBP1, PUF60, DOCK4, EIF2B1, YWHAZ, CSE1L, FGFR3, HMG20B, PCBP2, HNRNPK, HNRNPL, HNRNPA2B1, APEX1, KHDRBS2, HNRNPA1, SRRM2, TOPORS, UBC, HDAC5, TOP1, VHL, SMARCAD1, MBNL1, ELAVL1, ISG15, CUL3, CUL1, COPS5, CAND1, HNRNPR, HNRNPA3, HNRNPA0, HNRNPD, HNRNPH1, HNRNPM, EEF1A1, SFPQ, HNRNPDL, ATP6V1F, NPLOC4, LPP, MPV17, HSPA5, DYNC1H1, GCN1L1, EEF2, PLEC, LSM14A, MAGOH, EIF4A3, FN1, VCAM1, CSNK2A1, TP63, IFIT2, IFIT3, DAB2, IL7R, UBL4A, ITGA4, HMGA1, FBXO6, ITCH, NEDD4, ILF3, VEGFA, RPA1, RPA2, RPA3, IVNS1ABP, TRIM68, TP53, FUS, HIST3H3, CUL7, OBSL1, CCDC8, EED, RNF2, UNK, ACTR3, DHX15, DPH5, EIF4H, ABCC1, DDX17, LGALS1, HSPA9, HSPBP1, MRPL41, NAA50, NARS, NHP2L1, PDHA1, SF1, SYNCRIP, TUFM, YWHAE, NTRK1, SCARNA22, HIST1H3E, HNRNPU, MATR3, FOXE1, CRY1, MCM2, U2AF2, CRBN, SSU72, ELAVL2, APOBEC3D, CYLD, TRIM25, BRCA1, LMNA


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 B9D2_HNRNPL


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 B9D2_HNRNPL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneB9D2C3280036MECKEL SYNDROME, TYPE 101UNIPROT
TgeneHNRNPLC0038356Stomach Neoplasms1CTD_human
TgeneHNRNPLC1458155Mammary Neoplasms1CTD_human