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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: 38786

FusionGeneSummary for TMSB4X_SC5D

check button Fusion gene summary
Fusion gene informationFusion gene name: TMSB4X_SC5D
Fusion gene ID: 38786
HgeneTgene
Gene symbol

TMSB4X

SC5D

Gene ID

7114

6309

Gene namethymosin beta 4 X-linkedsterol-C5-desaturase
SynonymsFX|PTMB4|TB4X|TMSB4ERG3|S5DES|SC5DL
Cytomap

Xp22.2

11q23.3-q24.1

Type of geneprotein-codingprotein-coding
Descriptionthymosin beta-4prothymosin beta-4t beta-4thymosin, beta 4, X chromosomelathosterol oxidase3beta-hydroxysteroid-delta5-desaturaseC-5 sterol desaturasedelta(7)-sterol 5-desaturasedelta(7)-sterol C5(6)-desaturasefungal ERG3, delta-5-desaturase-likelathosterol 5-desaturaselathosterol dehydrogenasesterol-C5-desaturase (ER
Modification date2018052320180523
UniProtAcc

P62328

O75845

Ensembl transtripts involved in fusion geneENST00000451311, ENST00000380636, 
ENST00000380635, ENST00000380633, 
ENST00000264027, ENST00000534230, 
ENST00000392789, ENST00000528991, 
Fusion gene scores* DoF score4 X 4 X 2=323 X 3 X 3=27
# samples 43
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TMSB4X [Title/Abstract] AND SC5D [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
HgeneTMSB4X

GO:0042989

sequestering of actin monomers

1447300|1999398

HgeneTMSB4X

GO:0043536

positive regulation of blood vessel endothelial cell migration

21106936

HgeneTMSB4X

GO:1903026

negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding

21343177

HgeneTMSB4X

GO:1905273

positive regulation of proton-transporting ATP synthase activity, rotational mechanism

21106936

HgeneTMSB4X

GO:2000483

negative regulation of interleukin-8 secretion

21343177

HgeneTMSB4X

GO:2001028

positive regulation of endothelial cell chemotaxis

21106936

HgeneTMSB4X

GO:2001171

positive regulation of ATP biosynthetic process

21106936


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
ChiTaRS3.1D85181TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
* 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-5UTRENST00000451311ENST00000264027TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-5UTRENST00000451311ENST00000534230TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-intronENST00000451311ENST00000392789TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-intronENST00000451311ENST00000528991TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-5UTRENST00000380636ENST00000264027TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-5UTRENST00000380636ENST00000534230TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-intronENST00000380636ENST00000392789TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-intronENST00000380636ENST00000528991TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-5UTRENST00000380635ENST00000264027TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-5UTRENST00000380635ENST00000534230TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-intronENST00000380635ENST00000392789TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-intronENST00000380635ENST00000528991TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-5UTRENST00000380633ENST00000264027TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-5UTRENST00000380633ENST00000534230TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-intronENST00000380633ENST00000392789TMSB4XchrX

12994384

-SC5Dchr11

121163480

+
5CDS-intronENST00000380633ENST00000528991TMSB4XchrX

12994384

-SC5Dchr11

121163480

+

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FusionProtFeatures for TMSB4X_SC5D


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMSB4X

P62328

SC5D

O75845

Plays an important role in the organization of thecytoskeleton (By similarity). Binds to and sequesters actinmonomers (G actin) and therefore inhibits actin polymerization.{ECO:0000250}. Seraspenide inhibits the entry of hematopoieticpluripotent stem cells into the S-phase. {ECO:0000250}. Catalyzes a dehydrogenation to introduce C5-6 doublebond into lathosterol.

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 TMSB4X_SC5D


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 TMSB4X_SC5D


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 TMSB4X_SC5D


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 TMSB4X_SC5D


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTMSB4XC0033578Prostatic Neoplasms1CTD_human
HgeneTMSB4XC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
TgeneSC5DC1846421Lathosterolosis2CTD_human;ORPHANET;UNIPROT
TgeneSC5DC0023895Liver diseases1CTD_human
TgeneSC5DC3714756Intellectual Disability1CTD_human