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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: 25160

FusionGeneSummary for NUMA1_UBA2

check button Fusion gene summary
Fusion gene informationFusion gene name: NUMA1_UBA2
Fusion gene ID: 25160
HgeneTgene
Gene symbol

NUMA1

UBA2

Gene ID

4926

10054

Gene namenuclear mitotic apparatus protein 1ubiquitin like modifier activating enzyme 2
SynonymsNMP-22|NUMAARX|HRIHFB2115|SAE2
Cytomap

11q13.4

19q13.11

Type of geneprotein-codingprotein-coding
Descriptionnuclear mitotic apparatus protein 1SP-H antigencentrophilin stabilizes mitotic spindle in mitotic cellsnuclear matrix protein-22structural nuclear proteinSUMO-activating enzyme subunit 2SUMO-1 activating enzyme subunit 2SUMO1 activating enzyme subunit 2UBA2, ubiquitin-activating enzyme E1 homologanthracycline-associated resistance ARXubiquitin-like 1-activating enzyme E1B
Modification date2018052320180523
UniProtAcc

Q14980

Q9UBT2

Ensembl transtripts involved in fusion geneENST00000351960, ENST00000358965, 
ENST00000393695, ENST00000543450, 
ENST00000246548, ENST00000439527, 
ENST00000592791, ENST00000588585, 
Fusion gene scores* DoF score29 X 14 X 14=56843 X 3 X 2=18
# samples 313
** MAII scorelog2(31/5684*10)=-4.19656643396854
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NUMA1 [Title/Abstract] AND UBA2 [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

TgeneUBA2

GO:0016925

protein sumoylation

20164921


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
TCGARVLGGTCGA-HT-7687-01ANUMA1chr11

71713911

-UBA2chr19

34919781

+
* 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-intronENST00000351960ENST00000246548NUMA1chr11

71713911

-UBA2chr19

34919781

+
5CDS-intronENST00000351960ENST00000439527NUMA1chr11

71713911

-UBA2chr19

34919781

+
5CDS-intronENST00000351960ENST00000592791NUMA1chr11

71713911

-UBA2chr19

34919781

+
5CDS-intronENST00000351960ENST00000588585NUMA1chr11

71713911

-UBA2chr19

34919781

+
5CDS-intronENST00000358965ENST00000246548NUMA1chr11

71713911

-UBA2chr19

34919781

+
5CDS-intronENST00000358965ENST00000439527NUMA1chr11

71713911

-UBA2chr19

34919781

+
5CDS-intronENST00000358965ENST00000592791NUMA1chr11

71713911

-UBA2chr19

34919781

+
5CDS-intronENST00000358965ENST00000588585NUMA1chr11

71713911

-UBA2chr19

34919781

+
5CDS-intronENST00000393695ENST00000246548NUMA1chr11

71713911

-UBA2chr19

34919781

+
5CDS-intronENST00000393695ENST00000439527NUMA1chr11

71713911

-UBA2chr19

34919781

+
5CDS-intronENST00000393695ENST00000592791NUMA1chr11

71713911

-UBA2chr19

34919781

+
5CDS-intronENST00000393695ENST00000588585NUMA1chr11

71713911

-UBA2chr19

34919781

+
intron-intronENST00000543450ENST00000246548NUMA1chr11

71713911

-UBA2chr19

34919781

+
intron-intronENST00000543450ENST00000439527NUMA1chr11

71713911

-UBA2chr19

34919781

+
intron-intronENST00000543450ENST00000592791NUMA1chr11

71713911

-UBA2chr19

34919781

+
intron-intronENST00000543450ENST00000588585NUMA1chr11

71713911

-UBA2chr19

34919781

+

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FusionProtFeatures for NUMA1_UBA2


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

Q14980

UBA2

Q9UBT2

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}. The heterodimer acts as an E1 ligase for SUMO1, SUMO2,SUMO3, and probably SUMO4. It mediates ATP-dependent activation ofSUMO proteins followed by formation of a thioester bond between aSUMO protein and a conserved active site cysteine residue onUBA2/SAE2. {ECO:0000269|PubMed:11451954,ECO:0000269|PubMed:11481243, ECO:0000269|PubMed:15660128,ECO:0000269|PubMed:17643372, ECO:0000269|PubMed:19443651,ECO:0000269|PubMed:20164921}.

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_UBA2


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_UBA2


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
NUMA1EPB41, EPB41L1, YEATS4, GPSM2, TNKS, ACTR1A, SMC1A, SMC3, EPB41L2, NCOA6, PIM1, RPAP1, NPM1, BANF1, HDAC5, SMARCAD1, SIRT7, TERF1, TERF2IP, TERF2, CDK2, EMILIN1, RAE1, NUP98, DYNLL1, NCSTN, DDB1, ESR1, ECT2, MDC1, TP53BP1, SMURF1, VCP, HSP90AB1, HSP90AA1, CDK6, CBX6, KIAA0101, CCDC57, LMNA, YWHAQ, RPA3, RPA2, RPA1, ERG, LGR4, BRAP, DVL1, DVL2, DVL3, GMCL1, ENO1, MOV10, NXF1, BRCA1, CUL7, OBSL1, CCDC8, EZH2, SUZ12, EED, RNF2, BMI1, SUMO2, ABCE1, WDR83, GPSM1, EPB41L3, BRD4, EIF3H, CDC73, EIF3E, EIF3I, EIF3L, RPS13, SRRM1, RPL35A, RTF1, RUVBL1, ZC3H18, NTRK1, SCARNA22, PTTG1, IFI16, SSX2IP, CRK, MATR3, KIF20A, MPHOSPH8, CBX8, PAPD5, ASPM, DYNC1H1, KPNB1, FAM175B, BRCC3, U2AF2, SCOC, TCP10L, PDHA1, YAP1, TXNIPUBA2SAE1, UBE2I, SUMO1, BRIX1, NEDD8, SUMO2, SUMO3, ETV4, SERBP1, PARK7, UBQLN2, THADA, CHMP5, AHCYL1, SRSF2, SEPHS2, TRIP6, UNK, ZFYVE19, USP34, YAP1, NAP1L1, RPS15A, SULT1A1, UBE2B, KIAA1598, STMN2, TACC3, CLNS1A, SNCG, TLE3, TTC9C, MYL1, TOM1L2, SRXN1, ATP6V1B2, BAG3, CALU, CTSC, P4HB, PDE12, PDLIM5, RAD23B, SSB, TCEAL4, ARIH1, CBS, EHD4, IREB2, NPLOC4, PKM, PLIN3, RABGGTA, SRP14, ZPR1, UBC, EGFR, SUMO1P1, FOXK1, PSMA3, PSMA4, PSMB3, CLIC4, HSPB1, PCF11, PSMA1, PSMA2, PSMA5, PSMB4, WDR11, NTRK1, MYC, CEP162, LCA5, OFD1, WAS, RANBP2, CHEK1, DERL1, CPNE5, HSD17B10, EDEM3, TRIM25


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_UBA2


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 NUMA1_UBA2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNUMA1C0162820Dermatitis, Allergic Contact1CTD_human