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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: 29681

FusionGeneSummary for PUM2_TTLL4

check button Fusion gene summary
Fusion gene informationFusion gene name: PUM2_TTLL4
Fusion gene ID: 29681
HgeneTgene
Gene symbol

PUM2

TTLL4

Gene ID

23369

9654

Gene namepumilio RNA binding family member 2tubulin tyrosine ligase like 4
SynonymsPUMH2|PUML2-
Cytomap

2p24.1

2q35

Type of geneprotein-codingprotein-coding
Descriptionpumilio homolog 2pumilio-2tubulin polyglutamylase TTLL4tubulin tyrosine ligase-like family, member 4tubulin--tyrosine ligase-like protein 4
Modification date2018052220180519
UniProtAcc

Q8TB72

Q14679

Ensembl transtripts involved in fusion geneENST00000338086, ENST00000319801, 
ENST00000361078, ENST00000536417, 
ENST00000403432, ENST00000420234, 
ENST00000457313, ENST00000392102, 
ENST00000442769, ENST00000258398, 
Fusion gene scores* DoF score12 X 11 X 8=10561 X 1 X 1=1
# samples 131
** MAII scorelog2(13/1056*10)=-3.02202630633
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: PUM2 [Title/Abstract] AND TTLL4 [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
HgenePUM2

GO:0010608

posttranscriptional regulation of gene expression

25100735

HgenePUM2

GO:0043488

regulation of mRNA stability

26724866

HgenePUM2

GO:0051983

regulation of chromosome segregation

26724866

HgenePUM2

GO:1900246

positive regulation of RIG-I signaling pathway

25340845


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
TCGARVLIHCTCGA-BC-A10Y-01APUM2chr2

20550358

-TTLL4chr2

219591992

+
* 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-intronENST00000338086ENST00000457313PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-5UTRENST00000338086ENST00000392102PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-5UTRENST00000338086ENST00000442769PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-intronENST00000338086ENST00000258398PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-intronENST00000319801ENST00000457313PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-5UTRENST00000319801ENST00000392102PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-5UTRENST00000319801ENST00000442769PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-intronENST00000319801ENST00000258398PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-intronENST00000361078ENST00000457313PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-5UTRENST00000361078ENST00000392102PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-5UTRENST00000361078ENST00000442769PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-intronENST00000361078ENST00000258398PUM2chr2

20550358

-TTLL4chr2

219591992

+
5UTR-intronENST00000536417ENST00000457313PUM2chr2

20550358

-TTLL4chr2

219591992

+
5UTR-5UTRENST00000536417ENST00000392102PUM2chr2

20550358

-TTLL4chr2

219591992

+
5UTR-5UTRENST00000536417ENST00000442769PUM2chr2

20550358

-TTLL4chr2

219591992

+
5UTR-intronENST00000536417ENST00000258398PUM2chr2

20550358

-TTLL4chr2

219591992

+
5UTR-intronENST00000403432ENST00000457313PUM2chr2

20550358

-TTLL4chr2

219591992

+
5UTR-5UTRENST00000403432ENST00000392102PUM2chr2

20550358

-TTLL4chr2

219591992

+
5UTR-5UTRENST00000403432ENST00000442769PUM2chr2

20550358

-TTLL4chr2

219591992

+
5UTR-intronENST00000403432ENST00000258398PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-intronENST00000420234ENST00000457313PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-5UTRENST00000420234ENST00000392102PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-5UTRENST00000420234ENST00000442769PUM2chr2

20550358

-TTLL4chr2

219591992

+
intron-intronENST00000420234ENST00000258398PUM2chr2

20550358

-TTLL4chr2

219591992

+

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FusionProtFeatures for PUM2_TTLL4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PUM2

Q8TB72

TTLL4

Q14679

Sequence-specific RNA-binding protein that acts as apost-transcriptional repressor by binding the 3'-UTR of mRNAtargets. Binds to an RNA consensus sequence, the Pumilio ResponseElement (PRE), 5'-UGUANAUA-3', that is related to the NanosResponse Element (NRE) (, PubMed:21397187). Mediates post-transcriptional repression of transcripts via differentmechanisms: acts via direct recruitment of the CCR4-POP2-NOTdeadenylase leading to translational inhibition and mRNAdegradation (PubMed:22955276). Also mediates deadenylation-independent repression by promoting accessibility of miRNAs(PubMed:18776931, PubMed:22345517). Acts as a post-transcriptionalrepressor of E2F3 mRNAs by binding to its 3'-UTR and facilitatingmiRNA regulation (PubMed:22345517). Plays a role in cytoplasmicsensing of viral infection (PubMed:25340845). Represses a programof genes necessary to maintain genomic stability such as keymitotic, DNA repair and DNA replication factors. Its ability torepress those target mRNAs is regulated by the lncRNA NORAD (non-coding RNA activated by DNA damage) which, due to its highabundance and multitude of PUMILIO binding sites, is able tosequester a significant fraction of PUM1 and PUM2 in the cytoplasm(PubMed:26724866). May regulate DCUN1D3 mRNA levels(PubMed:25349211). May support proliferation and self-renewal ofstem cells. Binds specifically to miRNA MIR199A precursor, withPUM1, regulates miRNA MIR199A expression at a postranscriptionallevel (PubMed:28431233). {ECO:0000269|PubMed:18776931,ECO:0000269|PubMed:21397187, ECO:0000269|PubMed:22345517,ECO:0000269|PubMed:22955276, ECO:0000269|PubMed:25340845,ECO:0000269|PubMed:25349211, ECO:0000269|PubMed:26724866,ECO:0000269|PubMed:28431233}. Glutamylase which preferentially modifies beta-tubulinand non-tubulin proteins, such as NAP1L1, NAP1L4 and CGAS.Involved in the side-chain initiation step of thepolyglutamylation reaction rather than in the elongation step.Involved in formation of short side-chains. Mediates initiation ofpolyglutamylation of nucleosome assembly proteins NAP1L1 andNAP1L4. Also acts as a monoglutamylase: generatesmonoglutamylation of CGAS, leading to impair thenucleotidyltransferase activity of CGAS.{ECO:0000250|UniProtKB:Q80UG8}.

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 PUM2_TTLL4


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 PUM2_TTLL4


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
PUM2PUM2, NANOS1, AURKA, MED4, ELAVL1, DAZ1, DAZL, NANOS3, BMI1, RBFOX2, ILF2, NTRK1, SAMD1, RBM45, CLASRP, ELAVL2, CELF5, STRBP, CDX1, LITAF, TRIM25, G3BP1TTLL4NXF1, LZTS2, PCM1, XPO1, MAPK8IP1, VTN, AGTPBP1


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 PUM2_TTLL4


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 PUM2_TTLL4


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