FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 38110

FusionGeneSummary for TIMM8A_CAST

check button Fusion gene summary
Fusion gene informationFusion gene name: TIMM8A_CAST
Fusion gene ID: 38110
HgeneTgene
Gene symbol

TIMM8A

CAST

Gene ID

1678

26059

Gene nametranslocase of inner mitochondrial membrane 8AELKS/RAB6-interacting/CAST family member 2
SynonymsDDP|DDP1|DFN1|MTS|TIM8CAST|CAST1|ELKSL|SPBC110|Spc110
Cytomap

Xq22.1

3p14.3

Type of geneprotein-codingprotein-coding
Descriptionmitochondrial import inner membrane translocase subunit Tim8 AX-linked deafness dystonia proteindeafness dystonia protein 1deafness/dystonia peptidetranslocase of inner mitochondrial membrane 8 homolog AERC protein 2CAZ-associated structural proteincytomatrix protein p110
Modification date2018051920180519
UniProtAcc

O60220

P20810

Ensembl transtripts involved in fusion geneENST00000372902, ENST00000480575, 
ENST00000338252, ENST00000508830, 
ENST00000359176, ENST00000395812, 
ENST00000325674, ENST00000395813, 
ENST00000510756, ENST00000508608, 
ENST00000341926, ENST00000511049, 
ENST00000309190, ENST00000509903, 
ENST00000511782, ENST00000504465, 
ENST00000348386, ENST00000508579, 
ENST00000515663, 
Fusion gene scores* DoF score2 X 1 X 2=410 X 9 X 6=540
# samples 212
** MAII scorelog2(2/4*10)=2.32192809488736log2(12/540*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TIMM8A [Title/Abstract] AND CAST [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

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
TCGALDSARCTCGA-KD-A5QU-01ATIMM8AchrX

100603521

-CASTchr5

96011243

+
* 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-5UTRENST00000372902ENST00000338252TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-5UTRENST00000372902ENST00000508830TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-5UTRENST00000372902ENST00000359176TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-5UTRENST00000372902ENST00000395812TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-5UTRENST00000372902ENST00000325674TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-5UTRENST00000372902ENST00000395813TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-5UTRENST00000372902ENST00000510756TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-5UTRENST00000372902ENST00000508608TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-intronENST00000372902ENST00000341926TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-intronENST00000372902ENST00000511049TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-intronENST00000372902ENST00000309190TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-intronENST00000372902ENST00000509903TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-intronENST00000372902ENST00000511782TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-intronENST00000372902ENST00000504465TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-intronENST00000372902ENST00000348386TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-intronENST00000372902ENST00000508579TIMM8AchrX

100603521

-CASTchr5

96011243

+
5CDS-intronENST00000372902ENST00000515663TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-5UTRENST00000480575ENST00000338252TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-5UTRENST00000480575ENST00000508830TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-5UTRENST00000480575ENST00000359176TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-5UTRENST00000480575ENST00000395812TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-5UTRENST00000480575ENST00000325674TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-5UTRENST00000480575ENST00000395813TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-5UTRENST00000480575ENST00000510756TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-5UTRENST00000480575ENST00000508608TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-intronENST00000480575ENST00000341926TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-intronENST00000480575ENST00000511049TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-intronENST00000480575ENST00000309190TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-intronENST00000480575ENST00000509903TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-intronENST00000480575ENST00000511782TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-intronENST00000480575ENST00000504465TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-intronENST00000480575ENST00000348386TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-intronENST00000480575ENST00000508579TIMM8AchrX

100603521

-CASTchr5

96011243

+
5UTR-intronENST00000480575ENST00000515663TIMM8AchrX

100603521

-CASTchr5

96011243

+

Top

FusionProtFeatures for TIMM8A_CAST


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TIMM8A

O60220

CAST

P20810

Mitochondrial intermembrane chaperone that participatesin the import and insertion of some multi-pass transmembraneproteins into the mitochondrial inner membrane. Also required forthe transfer of beta-barrel precursors from the TOM complex to thesorting and assembly machinery (SAM complex) of the outermembrane. Acts as a chaperone-like protein that protects thehydrophobic precursors from aggregation and guide them through themitochondrial intermembrane space. The TIMM8-TIMM13 complexmediates the import of proteins such as TIMM23, SLC25A12/ARALAR1and SLC25A13/ARALAR2, while the predominant TIMM9-TIMM10 70 kDacomplex mediates the import of much more proteins. Probablynecessary for normal neurologic development.{ECO:0000269|PubMed:11489896, ECO:0000269|PubMed:15254020}.

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


Top

FusionGeneSequence for TIMM8A_CAST


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).

Top

FusionGenePPI for TIMM8A_CAST


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
TIMM8ASTAM, TIMM13, JOSD1, USP30, UBE2L6, KRT15, STAM2, TIMM10, CDA, TIMM9, TIMMDC1, XRCC3, CDT1, YBEYCASTCAPN1, KIAA0101, ELAVL1, PSIP1, COPS4, COPS5, CUL4A, EPB41L1, KIF5B, LRBA, PSMA6, PSMB3, PSMB5, PSMB7, RPP38, SART3, SMEK1, PSMA5, FNTB, CAPNS2, NUDC, CKB, CRK, LZIC, PPME1, BAG6, CDH1, CAPN8, MTUS2


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


Top

RelatedDrugs for TIMM8A_CAST


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCASTP20810DB11638ArtenimolCalpastatinsmall moleculeapproved|investigational
TgeneCASTP20810DB01373CalciumCalpastatinsmall moleculeapproved|nutraceutical

Top

RelatedDiseases for TIMM8A_CAST


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTIMM8AC0796074MOHR-TRANEBJAERG SYNDROME2CTD_human;ORPHANET;UNIPROT
HgeneTIMM8AC1839564Jensen syndrome1CTD_human
TgeneCASTC0027540Necrosis1CTD_human
TgeneCASTC0162557Liver Failure, Acute1CTD_human