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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: 25155

FusionGeneSummary for NUMA1_RARA

check button Fusion gene summary
Fusion gene informationFusion gene name: NUMA1_RARA
Fusion gene ID: 25155
HgeneTgene
Gene symbol

NUMA1

RARA

Gene ID

4926

5914

Gene namenuclear mitotic apparatus protein 1retinoic acid receptor alpha
SynonymsNMP-22|NUMANR1B1|RAR
Cytomap

11q13.4

17q21.2

Type of geneprotein-codingprotein-coding
Descriptionnuclear mitotic apparatus protein 1SP-H antigencentrophilin stabilizes mitotic spindle in mitotic cellsnuclear matrix protein-22structural nuclear proteinretinoic acid receptor alphaRAR-alphanuclear receptor subfamily 1 group B member 1nucleophosmin-retinoic acid receptor alpha fusion protein NPM-RAR long formretinoic acid nuclear receptor alpha variant 1retinoic acid nuclear receptor alpha variant 2
Modification date2018052320180523
UniProtAcc

Q14980

P10276

Ensembl transtripts involved in fusion geneENST00000351960, ENST00000358965, 
ENST00000393695, ENST00000543450, 
ENST00000254066, ENST00000394089, 
ENST00000425707, ENST00000394086, 
ENST00000394081, ENST00000420042, 
Fusion gene scores* DoF score29 X 14 X 14=568418 X 16 X 10=2880
# samples 3142
** MAII scorelog2(31/5684*10)=-4.19656643396854
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(42/2880*10)=-2.77760757866355
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NUMA1 [Title/Abstract] AND RARA [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
HgeneNUMA1

GO:0000132

establishment of mitotic spindle orientation

21816348

HgeneNUMA1

GO:0030953

astral microtubule organization

12445386

HgeneNUMA1

GO:0060236

regulation of mitotic spindle organization

26195665

HgeneNUMA1

GO:1902365

positive regulation of protein localization to spindle pole body

16076287

TgeneRARA

GO:0007165

signal transduction

2825025

TgeneRARA

GO:0030853

negative regulation of granulocyte differentiation

19917671

TgeneRARA

GO:0032689

negative regulation of interferon-gamma production

18416830

TgeneRARA

GO:0032720

negative regulation of tumor necrosis factor production

18416830

TgeneRARA

GO:0032736

positive regulation of interleukin-13 production

18416830

TgeneRARA

GO:0032753

positive regulation of interleukin-4 production

18416830

TgeneRARA

GO:0032754

positive regulation of interleukin-5 production

18416830

TgeneRARA

GO:0045630

positive regulation of T-helper 2 cell differentiation

18416830

TgeneRARA

GO:0045892

negative regulation of transcription, DNA-templated

20080953

TgeneRARA

GO:0045893

positive regulation of transcription, DNA-templated

18845237|19850744|20080953

TgeneRARA

GO:0045944

positive regulation of transcription by RNA polymerase II

19850744

TgeneRARA

GO:0071300

cellular response to retinoic acid

19917671

TgeneRARA

GO:0071391

cellular response to estrogen stimulus

20080953


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
ChiTaRS3.1AF012304NUMA1chr11

71717081

-RARAchr17

38504544

+
* 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
5CDS-intronENST00000351960ENST00000254066NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000351960ENST00000394089NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000351960ENST00000425707NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000351960ENST00000394086NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000351960ENST00000394081NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000351960ENST00000420042NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000358965ENST00000254066NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000358965ENST00000394089NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000358965ENST00000425707NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000358965ENST00000394086NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000358965ENST00000394081NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000358965ENST00000420042NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000393695ENST00000254066NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000393695ENST00000394089NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000393695ENST00000425707NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000393695ENST00000394086NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000393695ENST00000394081NUMA1chr11

71717081

-RARAchr17

38504544

+
5CDS-intronENST00000393695ENST00000420042NUMA1chr11

71717081

-RARAchr17

38504544

+
intron-intronENST00000543450ENST00000254066NUMA1chr11

71717081

-RARAchr17

38504544

+
intron-intronENST00000543450ENST00000394089NUMA1chr11

71717081

-RARAchr17

38504544

+
intron-intronENST00000543450ENST00000425707NUMA1chr11

71717081

-RARAchr17

38504544

+
intron-intronENST00000543450ENST00000394086NUMA1chr11

71717081

-RARAchr17

38504544

+
intron-intronENST00000543450ENST00000394081NUMA1chr11

71717081

-RARAchr17

38504544

+
intron-intronENST00000543450ENST00000420042NUMA1chr11

71717081

-RARAchr17

38504544

+

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FusionProtFeatures for NUMA1_RARA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NUMA1

Q14980

RARA

P10276

Microtubule (MT)-binding protein that plays a role inthe formation and maintenance of the spindle poles and thealignement and the segregation of chromosomes during mitotic celldivision (PubMed:7769006, PubMed:17172455, PubMed:19255246,PubMed:24996901, PubMed:26195665, PubMed:27462074). Functions totether the minus ends of MTs at the spindle poles, which iscritical for the establishment and maintenance of the spindlepoles (PubMed:12445386, PubMed:11956313). Plays a role in theestablishment of the mitotic spindle orientation during metaphaseand elongation during anaphase in a dynein-dynactin-dependentmanner (PubMed:23870127, PubMed:24109598, PubMed:24996901,PubMed:26765568). In metaphase, part of a ternary complex composedof GPSM2 and G(i) alpha proteins, that regulates the recruitmentand anchorage of the dynein-dynactin complex in the mitotic cellcortex regions situated above the two spindle poles, and henceregulates the correct oritentation of the mitotic spindle(PubMed:23027904, PubMed:22327364, PubMed:23921553). Duringanaphase, mediates the recruitment and accumulation of the dynein-dynactin complex at the cell membrane of the polar cortical regionthrough direct association with phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), and hence participates in the regulationof the spindle elongation and chromosome segregation(PubMed:22327364, PubMed:23921553, PubMed:24996901,PubMed:24371089). Binds also to other polyanionicphosphoinositides, such as phosphatidylinositol 3-phosphate (PIP),lysophosphatidic acid (LPA) and phosphatidylinositol triphosphate(PIP3), in vitro (PubMed:24996901, PubMed:24371089). Also requiredfor proper orientation of the mitotic spindle during asymmetriccell divisions (PubMed:21816348). Plays a role in mitotic MT asterassembly (PubMed:11163243, PubMed:11229403, PubMed:12445386).Involved in anastral spindle assembly (PubMed:25657325).Positively regulates TNKS protein localization to spindle poles inmitosis (PubMed:16076287). Highly abundant component of thenuclear matrix where it may serve a non-mitotic structural role,occupies the majority of the nuclear volume (PubMed:10075938).Required for epidermal differentiation and hair folliclemorphogenesis (By similarity). {ECO:0000250|UniProtKB:E9Q7G0,ECO:0000269|PubMed:11163243, ECO:0000269|PubMed:11229403,ECO:0000269|PubMed:11956313, ECO:0000269|PubMed:12445386,ECO:0000269|PubMed:16076287, ECO:0000269|PubMed:17172455,ECO:0000269|PubMed:19255246, ECO:0000269|PubMed:22327364,ECO:0000269|PubMed:23027904, ECO:0000269|PubMed:23870127,ECO:0000269|PubMed:23921553, ECO:0000269|PubMed:24109598,ECO:0000269|PubMed:24371089, ECO:0000269|PubMed:24996901,ECO:0000269|PubMed:25657325, ECO:0000269|PubMed:26195665,ECO:0000269|PubMed:26765568, ECO:0000269|PubMed:27462074,ECO:0000269|PubMed:7769006, ECO:0000305|PubMed:10075938,ECO:0000305|PubMed:21816348}. Receptor for retinoic acid. Retinoic acid receptors bindas heterodimers to their target response elements in response totheir ligands, all-trans or 9-cis retinoic acid, and regulate geneexpression in various biological processes. The RXR/RARheterodimers bind to the retinoic acid response elements (RARE)composed of tandem 5'-AGGTCA-3' sites known as DR1-DR5. In theabsence of ligand, the RXR-RAR heterodimers associate with amultiprotein complex containing transcription corepressors thatinduce histone acetylation, chromatin condensation andtranscriptional suppression. On ligand binding, the corepressorsdissociate from the receptors and associate with the coactivatorsleading to transcriptional activation. RARA plays an essentialrole in the regulation of retinoic acid-induced germ celldevelopment during spermatogenesis. Has a role in the survival ofearly spermatocytes at the beginning prophase of meiosis. InSertoli cells, may promote the survival and development of earlymeiotic prophase spermatocytes. In concert with RARG, required forskeletal growth, matrix homeostasis and growth plate function (Bysimilarity). {ECO:0000250|UniProtKB:P11416,ECO:0000269|PubMed:16417524, ECO:0000269|PubMed:19850744,ECO:0000269|PubMed:20215566}.

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 NUMA1_RARA


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 NUMA1_RARA


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 NUMA1_RARA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneRARAP10276DB00210AdapaleneRetinoic acid receptor alphasmall moleculeapproved
TgeneRARAP10276DB00459AcitretinRetinoic acid receptor alphasmall moleculeapproved
TgeneRARAP10276DB00982IsotretinoinRetinoic acid receptor alphasmall moleculeapproved
TgeneRARAP10276DB00523AlitretinoinRetinoic acid receptor alphasmall moleculeapproved|investigational
TgeneRARAP10276DB00799TazaroteneRetinoic acid receptor alphasmall moleculeapproved|investigational
TgeneRARAP10276DB00755TretinoinRetinoic acid receptor alphasmall moleculeapproved|investigational|nutraceutical

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RelatedDiseases for NUMA1_RARA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNUMA1C0162820Dermatitis, Allergic Contact1CTD_human
TgeneRARAC0023487Acute Promyelocytic Leukemia22CTD_human;HPO;ORPHANET
TgeneRARAC0036341Schizophrenia3PSYGENET
TgeneRARAC0005586Bipolar Disorder1PSYGENET
TgeneRARAC0010701Phyllodes Tumor1CTD_human
TgeneRARAC0085183Neoplasms, Second Primary1CTD_human
TgeneRARAC0149940Sciatic Neuropathy1CTD_human
TgeneRARAC0206650Fibroadenoma1CTD_human
TgeneRARAC0525045Mood Disorders1PSYGENET
TgeneRARAC1458155Mammary Neoplasms1CTD_human
TgeneRARAC2239176Liver carcinoma1CTD_human