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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: 39938

FusionGeneSummary for TTC21B_FKBP8

check button Fusion gene summary
Fusion gene informationFusion gene name: TTC21B_FKBP8
Fusion gene ID: 39938
HgeneTgene
Gene symbol

TTC21B

FKBP8

Gene ID

79809

23770

Gene nametetratricopeptide repeat domain 21BFK506 binding protein 8
SynonymsATD4|IFT139|IFT139B|JBTS11|NPHP12|Nbla10696|SRTD4|THM1FKBP38|FKBPr38
Cytomap

2q24.3

19p13.11

Type of geneprotein-codingprotein-coding
Descriptiontetratricopeptide repeat protein 21BTPR repeat protein 21Bintraflagellar transport 139 homologputative protein product of Nbla10696peptidyl-prolyl cis-trans isomerase FKBP838 kDa FK506-binding protein38 kDa FKBPFK506 binding protein 8, 38kDaFKBP-38FKBP-8PPIase FKBP8hFKBP38rotamase
Modification date2018052320180522
UniProtAcc

Q7Z4L5

Q14318

Ensembl transtripts involved in fusion geneENST00000489714, ENST00000536175, 
ENST00000243344, 
ENST00000597960, 
ENST00000610101, ENST00000596558, 
ENST00000222308, ENST00000608443, 
ENST00000453489, 
Fusion gene scores* DoF score5 X 5 X 3=7511 X 11 X 5=605
# samples 613
** MAII scorelog2(6/75*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/605*10)=-2.2184235191335
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TTC21B [Title/Abstract] AND FKBP8 [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
ChiTaRS3.1DA370936TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
* 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-3CDSENST00000489714ENST00000597960TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-3CDSENST00000489714ENST00000610101TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-intronENST00000489714ENST00000596558TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-intronENST00000489714ENST00000222308TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-5UTRENST00000489714ENST00000608443TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-intronENST00000489714ENST00000453489TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-3CDSENST00000536175ENST00000597960TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-3CDSENST00000536175ENST00000610101TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-intronENST00000536175ENST00000596558TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-intronENST00000536175ENST00000222308TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-5UTRENST00000536175ENST00000608443TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-intronENST00000536175ENST00000453489TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-3CDSENST00000243344ENST00000597960TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-3CDSENST00000243344ENST00000610101TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-intronENST00000243344ENST00000596558TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-intronENST00000243344ENST00000222308TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-5UTRENST00000243344ENST00000608443TTC21Bchr2

166734264

-FKBP8chr19

18654383

-
intron-intronENST00000243344ENST00000453489TTC21Bchr2

166734264

-FKBP8chr19

18654383

-

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FusionProtFeatures for TTC21B_FKBP8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TTC21B

Q7Z4L5

FKBP8

Q14318

Constitutively inactive PPiase, which becomes activewhen bound to calmodulin and calcium. Seems to act as a chaperonefor BCL2, targets it to the mitochondria and modulates itsphosphorylation state. The BCL2/FKBP8/calmodulin/calcium complexprobably interferes with the binding of BCL2 to its targets. Theactive form of FKBP8 may therefore play a role in the regulationof apoptosis. {ECO:0000269|PubMed:12510191,ECO:0000269|PubMed:15757646, ECO:0000269|PubMed:16176796}.

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 TTC21B_FKBP8


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 TTC21B_FKBP8


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 TTC21B_FKBP8


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 TTC21B_FKBP8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTTC21BC3151186NEPHRONOPHTHISIS 122UNIPROT
HgeneTTC21BC0022658Kidney Diseases1CTD_human
HgeneTTC21BC0236969Substance-Related Disorders1CTD_human
HgeneTTC21BC0265275Jeune thoracic dystrophy1CTD_human;ORPHANET
HgeneTTC21BC2936862Bardet-Biedl syndrome 1 (disorder)1UNIPROT
HgeneTTC21BC3151185SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY1UNIPROT