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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: 39237

FusionGeneSummary for TPM3_SEC24D

check button Fusion gene summary
Fusion gene informationFusion gene name: TPM3_SEC24D
Fusion gene ID: 39237
HgeneTgene
Gene symbol

TPM3

SEC24D

Gene ID

7170

9871

Gene nametropomyosin 3SEC24 homolog D, COPII coat complex component
SynonymsCAPM1|CFTD|HEL-189|HEL-S-82p|NEM1|OK/SW-cl.5|TM-5|TM3|TM30|TM30nm|TM5|TPM3nu|TPMsk3|TRK|hscp30CLCRP2
Cytomap

1q21.3

4q26

Type of geneprotein-codingprotein-coding
Descriptiontropomyosin alpha-3 chainalpha-tropomyosin, slow skeletalcytoskeletal tropomyosin TM30epididymis luminal protein 189epididymis secretory sperm binding protein Li 82pheat-stable cytoskeletal protein 30 kDatropomyosin 3 nutropomyosin gammatropomyosiprotein transport protein Sec24DSEC24 related gene family, member DSEC24-related protein D
Modification date2018052320180519
UniProtAcc

P06753

O94855

Ensembl transtripts involved in fusion geneENST00000368533, ENST00000469717, 
ENST00000330188, ENST00000341485, 
ENST00000341372, ENST00000328159, 
ENST00000271850, ENST00000302206, 
ENST00000368531, ENST00000323144, 
ENST00000368530, 
ENST00000280551, 
ENST00000379735, ENST00000429811, 
ENST00000505134, ENST00000511481, 
ENST00000419654, 
Fusion gene scores* DoF score7 X 6 X 6=2522 X 2 X 2=8
# samples 143
** MAII scorelog2(14/252*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/8*10)=1.90689059560852
Context

PubMed: TPM3 [Title/Abstract] AND SEC24D [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
TgeneSEC24D

GO:0090110

cargo loading into COPII-coated vesicle

17499046|18843296


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
ChiTaRS3.1BE695881TPM3chr1

154158571

-SEC24Dchr4

119644235

-
ChiTaRS3.1AW853022TPM3chr1

154158571

-SEC24Dchr4

119644235

-
* 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-3UTRENST00000368533ENST00000280551TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000368533ENST00000379735TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000368533ENST00000429811TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-5UTRENST00000368533ENST00000505134TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000368533ENST00000511481TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-intronENST00000368533ENST00000419654TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000469717ENST00000280551TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000469717ENST00000379735TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000469717ENST00000429811TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-5UTRENST00000469717ENST00000505134TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000469717ENST00000511481TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-intronENST00000469717ENST00000419654TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000330188ENST00000280551TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000330188ENST00000379735TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000330188ENST00000429811TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-5UTRENST00000330188ENST00000505134TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000330188ENST00000511481TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-intronENST00000330188ENST00000419654TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000341485ENST00000280551TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000341485ENST00000379735TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000341485ENST00000429811TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-5UTRENST00000341485ENST00000505134TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000341485ENST00000511481TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-intronENST00000341485ENST00000419654TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000341372ENST00000280551TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000341372ENST00000379735TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000341372ENST00000429811TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-5UTRENST00000341372ENST00000505134TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000341372ENST00000511481TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-intronENST00000341372ENST00000419654TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000328159ENST00000280551TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000328159ENST00000379735TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000328159ENST00000429811TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-5UTRENST00000328159ENST00000505134TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000328159ENST00000511481TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-intronENST00000328159ENST00000419654TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000271850ENST00000280551TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000271850ENST00000379735TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000271850ENST00000429811TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-5UTRENST00000271850ENST00000505134TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000271850ENST00000511481TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-intronENST00000271850ENST00000419654TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000302206ENST00000280551TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000302206ENST00000379735TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000302206ENST00000429811TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-5UTRENST00000302206ENST00000505134TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000302206ENST00000511481TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-intronENST00000302206ENST00000419654TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000368531ENST00000280551TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000368531ENST00000379735TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000368531ENST00000429811TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-5UTRENST00000368531ENST00000505134TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000368531ENST00000511481TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-intronENST00000368531ENST00000419654TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000323144ENST00000280551TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000323144ENST00000379735TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000323144ENST00000429811TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-5UTRENST00000323144ENST00000505134TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000323144ENST00000511481TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-intronENST00000323144ENST00000419654TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000368530ENST00000280551TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000368530ENST00000379735TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000368530ENST00000429811TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-5UTRENST00000368530ENST00000505134TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-3UTRENST00000368530ENST00000511481TPM3chr1

154158571

-SEC24Dchr4

119644235

-
intron-intronENST00000368530ENST00000419654TPM3chr1

154158571

-SEC24Dchr4

119644235

-

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FusionProtFeatures for TPM3_SEC24D


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TPM3

P06753

SEC24D

O94855

Component of the coat protein complex II (COPII) whichpromotes the formation of transport vesicles from the endoplasmicreticulum (ER). The coat has two main functions, the physicaldeformation of the endoplasmic reticulum membrane into vesiclesand the selection of cargo molecules for their transport to theGolgi complex (PubMed:17499046, PubMed:20427317, PubMed:18843296).Plays a central role in cargo selection within the COPII complexand together with SEC24C may have a different specificity comparedto SEC24A and SEC24B (PubMed:17499046, PubMed:20427317,PubMed:18843296). May more specifically package GPI-anchoredproteins through the cargo receptor TMED10 (PubMed:20427317). Mayalso be specific for IxM motif-containing cargos like the SNAREsGOSR2 and STX5 (PubMed:18843296). {ECO:0000269|PubMed:17499046,ECO:0000269|PubMed:18843296, ECO:0000269|PubMed:20427317}.

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 TPM3_SEC24D


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 TPM3_SEC24D


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 TPM3_SEC24D


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 TPM3_SEC24D


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTPM3C1836448Nemaline myopathy 19CTD_human;ORPHANET;UNIPROT
HgeneTPM3C0546264Congenital Fiber Type Disproportion5ORPHANET;UNIPROT
HgeneTPM3C0024667Animal Mammary Neoplasms2CTD_human
HgeneTPM3C0024668Mammary Neoplasms, Experimental2CTD_human
HgeneTPM3C0001418Adenocarcinoma1CTD_human
HgeneTPM3C0009375Colonic Neoplasms1CTD_human
HgeneTPM3C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneTPM3C0038356Stomach Neoplasms1CTD_human
HgeneTPM3C0040136Thyroid Neoplasm1CTD_human
TgeneSEC24DC4225382COLE-CARPENTER SYNDROME 21UNIPROT