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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: 39224

FusionGeneSummary for TPM2_FAH

check button Fusion gene summary
Fusion gene informationFusion gene name: TPM2_FAH
Fusion gene ID: 39224
HgeneTgene
Gene symbol

TPM2

FAH

Gene ID

7169

2184

Gene nametropomyosin 2fumarylacetoacetate hydrolase
SynonymsAMCD1|DA1|DA2B|HEL-S-273|NEM4|TMSB-
Cytomap

9p13.3

15q25.1

Type of geneprotein-codingprotein-coding
Descriptiontropomyosin beta chainepididymis secretory protein Li 273nemaline myopathy type 4tropomyosin 2 (beta)fumarylacetoacetaseFAAbeta-diketonasefumarylacetoacetate hydrolase (fumarylacetoacetase)
Modification date2018052320180519
UniProtAcc

P07951

P16930

Ensembl transtripts involved in fusion geneENST00000378300, ENST00000378292, 
ENST00000329305, ENST00000360958, 
ENST00000407106, ENST00000261755, 
ENST00000561421, ENST00000539156, 
ENST00000558627, 
Fusion gene scores* DoF score10 X 10 X 2=2004 X 4 X 2=32
# samples 106
** MAII scorelog2(10/200*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/32*10)=0.906890595608518
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TPM2 [Title/Abstract] AND FAH [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
HgeneTPM2

GO:0043462

regulation of ATPase activity

17194691


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
ChiTaRS3.1CN263730TPM2chr9

35682676

-FAHchr15

80450444

+
* 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-3CDSENST00000378300ENST00000407106TPM2chr9

35682676

-FAHchr15

80450444

+
intron-3CDSENST00000378300ENST00000261755TPM2chr9

35682676

-FAHchr15

80450444

+
intron-3CDSENST00000378300ENST00000561421TPM2chr9

35682676

-FAHchr15

80450444

+
intron-5UTRENST00000378300ENST00000539156TPM2chr9

35682676

-FAHchr15

80450444

+
intron-intronENST00000378300ENST00000558627TPM2chr9

35682676

-FAHchr15

80450444

+
intron-3CDSENST00000378292ENST00000407106TPM2chr9

35682676

-FAHchr15

80450444

+
intron-3CDSENST00000378292ENST00000261755TPM2chr9

35682676

-FAHchr15

80450444

+
intron-3CDSENST00000378292ENST00000561421TPM2chr9

35682676

-FAHchr15

80450444

+
intron-5UTRENST00000378292ENST00000539156TPM2chr9

35682676

-FAHchr15

80450444

+
intron-intronENST00000378292ENST00000558627TPM2chr9

35682676

-FAHchr15

80450444

+
intron-3CDSENST00000329305ENST00000407106TPM2chr9

35682676

-FAHchr15

80450444

+
intron-3CDSENST00000329305ENST00000261755TPM2chr9

35682676

-FAHchr15

80450444

+
intron-3CDSENST00000329305ENST00000561421TPM2chr9

35682676

-FAHchr15

80450444

+
intron-5UTRENST00000329305ENST00000539156TPM2chr9

35682676

-FAHchr15

80450444

+
intron-intronENST00000329305ENST00000558627TPM2chr9

35682676

-FAHchr15

80450444

+
intron-3CDSENST00000360958ENST00000407106TPM2chr9

35682676

-FAHchr15

80450444

+
intron-3CDSENST00000360958ENST00000261755TPM2chr9

35682676

-FAHchr15

80450444

+
intron-3CDSENST00000360958ENST00000561421TPM2chr9

35682676

-FAHchr15

80450444

+
intron-5UTRENST00000360958ENST00000539156TPM2chr9

35682676

-FAHchr15

80450444

+
intron-intronENST00000360958ENST00000558627TPM2chr9

35682676

-FAHchr15

80450444

+

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FusionProtFeatures for TPM2_FAH


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TPM2

P07951

FAH

P16930

Binds to actin filaments in muscle and non-muscle cells.Plays a central role, in association with the troponin complex, inthe calcium dependent regulation of vertebrate striated musclecontraction. Smooth muscle contraction is regulated by interactionwith caldesmon. In non-muscle cells is implicated in stabilizingcytoskeleton actin filaments. The non-muscle isoform may have arole in agonist-mediated receptor internalization.{ECO:0000250|UniProtKB:P58774, ECO:0000250|UniProtKB:P58775}.

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 TPM2_FAH


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 TPM2_FAH


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 TPM2_FAH


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 TPM2_FAH


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTPM2C1836447Nemaline myopathy 44CTD_human;ORPHANET;UNIPROT
HgeneTPM2C0220662ARTHROGRYPOSIS, DISTAL, TYPE 13CTD_human;ORPHANET;UNIPROT
HgeneTPM2C1834523ARTHROGRYPOSIS, DISTAL, TYPE 2B2CTD_human;ORPHANET;UNIPROT
HgeneTPM2C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneFAHC0268490Tyrosinemia, Type I8ORPHANET;UNIPROT
TgeneFAHC0268483Tyrosinemias2CTD_human