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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: 24254

FusionGeneSummary for NFIX_HNF1B

check button Fusion gene summary
Fusion gene informationFusion gene name: NFIX_HNF1B
Fusion gene ID: 24254
HgeneTgene
Gene symbol

NFIX

HNF1B

Gene ID

4784

6928

Gene namenuclear factor I XHNF1 homeobox B
SynonymsCTF|MRSHSS|NF-I/X|NF1-X|NF1A|SOTOS2FJHN|HNF-1-beta|HNF-1B|HNF1beta|HNF2|HPC11|LF-B3|LFB3|MODY5|TCF-2|TCF2|VHNF1
Cytomap

19p13.13

17q12

Type of geneprotein-codingprotein-coding
Descriptionnuclear factor 1 X-typeCCAAT-binding transcription factorCCAAT-box-binding transcription factorTGGCA-binding proteinnuclear factor 1/Xhepatocyte nuclear factor 1-betaHNF1 beta Ahomeoprotein LFB3transcription factor 2, hepatic
Modification date2018052320180528
UniProtAcc

Q14938

P35680

Ensembl transtripts involved in fusion geneENST00000397661, ENST00000592199, 
ENST00000587760, ENST00000585575, 
ENST00000360105, ENST00000588228, 
ENST00000587260, ENST00000358552, 
ENST00000588680, 		ENST00000225893, 
ENST00000561193, ENST00000560016, 
ENST00000427275, 
Fusion gene scores* DoF score21 X 12 X 14=35287 X 5 X 7=245
# samples 297
** MAII scorelog2(29/3528*10)=-3.60472575554259
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/245*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NFIX [Title/Abstract] AND HNF1B [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
HgeneNFIX

GO:0000122

negative regulation of transcription by RNA polymerase II

19706729

HgeneNFIX

GO:0045944

positive regulation of transcription by RNA polymerase II

19706729

TgeneHNF1B

GO:0001822

kidney development

21281489

TgeneHNF1B

GO:0045893

positive regulation of transcription, DNA-templated

16297991|21281489

TgeneHNF1B

GO:0060261

positive regulation of transcription initiation from RNA polymerase II promoter

15355349


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
TCGALDBRCATCGA-A2-A1G1-01ANFIXchr19

13206543

+HNF1Bchr17

36070671

-
* 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
3UTR-3CDSENST00000397661ENST00000225893NFIXchr19

13206543

+HNF1Bchr17

36070671

-
3UTR-3CDSENST00000397661ENST00000561193NFIXchr19

13206543

+HNF1Bchr17

36070671

-
3UTR-3CDSENST00000397661ENST00000560016NFIXchr19

13206543

+HNF1Bchr17

36070671

-
3UTR-3CDSENST00000397661ENST00000427275NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000592199ENST00000225893NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000592199ENST00000561193NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000592199ENST00000560016NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000592199ENST00000427275NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000587760ENST00000225893NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000587760ENST00000561193NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000587760ENST00000560016NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000587760ENST00000427275NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000585575ENST00000225893NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000585575ENST00000561193NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000585575ENST00000560016NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000585575ENST00000427275NFIXchr19

13206543

+HNF1Bchr17

36070671

-
3UTR-3CDSENST00000360105ENST00000225893NFIXchr19

13206543

+HNF1Bchr17

36070671

-
3UTR-3CDSENST00000360105ENST00000561193NFIXchr19

13206543

+HNF1Bchr17

36070671

-
3UTR-3CDSENST00000360105ENST00000560016NFIXchr19

13206543

+HNF1Bchr17

36070671

-
3UTR-3CDSENST00000360105ENST00000427275NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000588228ENST00000225893NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000588228ENST00000561193NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000588228ENST00000560016NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000588228ENST00000427275NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000587260ENST00000225893NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000587260ENST00000561193NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000587260ENST00000560016NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000587260ENST00000427275NFIXchr19

13206543

+HNF1Bchr17

36070671

-
3UTR-3CDSENST00000358552ENST00000225893NFIXchr19

13206543

+HNF1Bchr17

36070671

-
3UTR-3CDSENST00000358552ENST00000561193NFIXchr19

13206543

+HNF1Bchr17

36070671

-
3UTR-3CDSENST00000358552ENST00000560016NFIXchr19

13206543

+HNF1Bchr17

36070671

-
3UTR-3CDSENST00000358552ENST00000427275NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000588680ENST00000225893NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000588680ENST00000561193NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000588680ENST00000560016NFIXchr19

13206543

+HNF1Bchr17

36070671

-
intron-3CDSENST00000588680ENST00000427275NFIXchr19

13206543

+HNF1Bchr17

36070671

-

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FusionProtFeatures for NFIX_HNF1B


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

Q14938

HNF1B

P35680

Transcription factor, probably binds to the invertedpalindrome 5'-GTTAATNATTAAC-3'.

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 NFIX_HNF1B


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 NFIX_HNF1B


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
NFIXRFX1, HDAC1, RB1, SKI, NFIB, PIR, ISG15, JMJD6, NFIX, QRICH1, ZNF614, CREB1, FOS, JUN, RBPJ, SMAD4, FOXA1, FOXC1, FOXN1, TRIM25HNF1BCREB1, ATF1, HNF1A, PCBD1, HIST1H3A


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 NFIX_HNF1B


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 NFIX_HNF1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNFIXC3553660SOTOS SYNDROME 23ORPHANET;UNIPROT
HgeneNFIXC0005586Bipolar Disorder1PSYGENET
TgeneHNF1BC0431693Renal cysts and diabetes syndrome9CTD_human;ORPHANET;UNIPROT
TgeneHNF1BC0011860Diabetes Mellitus, Non-Insulin-Dependent2CTD_human;HPO;UNIPROT
TgeneHNF1BC0033578Prostatic Neoplasms2CTD_human