	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
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Fusion gene ID: 29679

FusionGeneSummary for PUM2_MTFR1L

Fusion gene summary

Fusion gene information	Fusion gene name: PUM2_MTFR1L
	Fusion gene ID: 29679
		Hgene	Tgene
	Gene symbol	PUM2	MTFR1L
	Gene ID	23369	56181
	Gene name	pumilio RNA binding family member 2	mitochondrial fission regulator 1 like
	Synonyms	PUMH2\|PUML2	FAM54B\|HYST1888\|MST116\|MSTP116
	Cytomap	2p24.1	1p36.11
	Type of gene	protein-coding	protein-coding
	Description	pumilio homolog 2pumilio-2	mitochondrial fission regulator 1-likefamily with sequence similarity 54 member Bprotein FAM54B
	Modification date	20180522	20180523
	UniProtAcc	Q8TB72	Q9H019
	Ensembl transtripts involved in fusion gene	ENST00000338086, ENST00000319801, ENST00000361078, ENST00000536417, ENST00000403432, ENST00000420234,	ENST00000374303, ENST00000474295, ENST00000469815, ENST00000526894, ENST00000524618, ENST00000374307, ENST00000374301, ENST00000374300, ENST00000466284,
Fusion gene scores	* DoF score	12 X 11 X 8=1056	2 X 2 X 2=8
	# samples	13	2
	** MAII score	log2(13/1056*10)=-3.02202630633 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(2/8*10)=1.32192809488736
Context	PubMed: PUM2 [Title/Abstract] AND MTFR1L [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	PUM2	GO:0010608	posttranscriptional regulation of gene expression	25100735
Hgene	PUM2	GO:0043488	regulation of mRNA stability	26724866
Hgene	PUM2	GO:0051983	regulation of chromosome segregation	26724866
Hgene	PUM2	GO:1900246	positive regulation of RIG-I signaling pathway	25340845

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	LD	PRAD	TCGA-2A-A8VL-01A	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
intron-3CDS	ENST00000338086	ENST00000374303	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3UTR	ENST00000338086	ENST00000474295	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3UTR	ENST00000338086	ENST00000469815	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000338086	ENST00000526894	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000338086	ENST00000524618	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000338086	ENST00000374307	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000338086	ENST00000374301	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000338086	ENST00000374300	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3UTR	ENST00000338086	ENST00000466284	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3CDS	ENST00000319801	ENST00000374303	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3UTR	ENST00000319801	ENST00000474295	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3UTR	ENST00000319801	ENST00000469815	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000319801	ENST00000526894	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000319801	ENST00000524618	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000319801	ENST00000374307	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000319801	ENST00000374301	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000319801	ENST00000374300	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3UTR	ENST00000319801	ENST00000466284	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3CDS	ENST00000361078	ENST00000374303	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3UTR	ENST00000361078	ENST00000474295	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3UTR	ENST00000361078	ENST00000469815	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000361078	ENST00000526894	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000361078	ENST00000524618	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000361078	ENST00000374307	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000361078	ENST00000374301	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000361078	ENST00000374300	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3UTR	ENST00000361078	ENST00000466284	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-3CDS	ENST00000536417	ENST00000374303	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-3UTR	ENST00000536417	ENST00000474295	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-3UTR	ENST00000536417	ENST00000469815	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-intron	ENST00000536417	ENST00000526894	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-intron	ENST00000536417	ENST00000524618	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-intron	ENST00000536417	ENST00000374307	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-intron	ENST00000536417	ENST00000374301	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-intron	ENST00000536417	ENST00000374300	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-3UTR	ENST00000536417	ENST00000466284	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-3CDS	ENST00000403432	ENST00000374303	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-3UTR	ENST00000403432	ENST00000474295	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-3UTR	ENST00000403432	ENST00000469815	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-intron	ENST00000403432	ENST00000526894	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-intron	ENST00000403432	ENST00000524618	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-intron	ENST00000403432	ENST00000374307	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-intron	ENST00000403432	ENST00000374301	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-intron	ENST00000403432	ENST00000374300	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
5UTR-3UTR	ENST00000403432	ENST00000466284	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3CDS	ENST00000420234	ENST00000374303	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3UTR	ENST00000420234	ENST00000474295	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3UTR	ENST00000420234	ENST00000469815	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000420234	ENST00000526894	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000420234	ENST00000524618	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000420234	ENST00000374307	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000420234	ENST00000374301	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-intron	ENST00000420234	ENST00000374300	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+
intron-3UTR	ENST00000420234	ENST00000466284	PUM2	chr2	20550358	-	MTFR1L	chr1	26158412	+

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FusionProtFeatures for PUM2_MTFR1L

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
PUM2 Q8TB72	MTFR1L Q9H019
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}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for PUM2_MTFR1L

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_MTFR1L

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
PUM2	PUM2, NANOS1, AURKA, MED4, ELAVL1, DAZ1, DAZL, NANOS3, BMI1, RBFOX2, ILF2, NTRK1, SAMD1, RBM45, CLASRP, ELAVL2, CELF5, STRBP, CDX1, LITAF, TRIM25, G3BP1	MTFR1L	HAUS2, MAGEA12, ARMC1, SDF4, OLFM4, PRG2, XPO1, MRPL12, GHITM, PFDN4, C6orf141, SKP2, LRIG1, KCTD3, KIF13B, CGN, ZBTB21, KSR1, GIGYF1, CBY1, INPP5E

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for PUM2_MTFR1L

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for PUM2_MTFR1L

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 29679

FusionGeneSummary for PUM2_MTFR1L

FusionProtFeatures for PUM2_MTFR1L

FusionGeneSequence for PUM2_MTFR1L

FusionGenePPI for PUM2_MTFR1L

RelatedDrugs for PUM2_MTFR1L

RelatedDiseases for PUM2_MTFR1L