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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: 40036

FusionGeneSummary for TTLL5_NAPA

check button Fusion gene summary
Fusion gene informationFusion gene name: TTLL5_NAPA
Fusion gene ID: 40036
HgeneTgene
Gene symbol

TTLL5

NAPA

Gene ID

254173

9476

Gene nametubulin tyrosine ligase like 10napsin A aspartic peptidase
SynonymsTTLL5KAP|Kdap|NAP1|NAPA|SNAPA
Cytomap

1p36.33

19q13.33

Type of geneprotein-codingprotein-coding
Descriptioninactive polyglycylase TTLL10tubulin tyrosine ligase-like family, member 10tubulin tyrosine ligase-like family, member 5tubulin--tyrosine ligase-like protein 10napsin-AASP4TA01/TA02asp 4aspartyl protease 4kidney-derived aspartic protease-like proteinnapsin-1pronapsin A
Modification date2018051920180523
UniProtAcc

Q6EMB2

P54920

Ensembl transtripts involved in fusion geneENST00000557636, ENST00000286650, 
ENST00000298832, ENST00000556893, 
ENST00000554510, ENST00000556977, 
ENST00000555422, 
ENST00000263354, 
ENST00000595227, ENST00000593785, 
Fusion gene scores* DoF score12 X 11 X 10=13201 X 1 X 1=1
# samples 131
** MAII scorelog2(13/1320*10)=-3.34395440121736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: TTLL5 [Title/Abstract] AND NAPA [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
HgeneTTLL5

GO:0018094

protein polyglycylation

19524510

TgeneNAPA

GO:0033619

membrane protein proteolysis

14766755

TgeneNAPA

GO:0043129

surfactant homeostasis

18216060


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
ChiTaRS3.1BG984526TTLL5chr14

76127701

-NAPAchr19

48018293

-
* 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
5UTR-5UTRENST00000557636ENST00000263354TTLL5chr14

76127701

-NAPAchr19

48018293

-
5UTR-intronENST00000557636ENST00000595227TTLL5chr14

76127701

-NAPAchr19

48018293

-
5UTR-intronENST00000557636ENST00000593785TTLL5chr14

76127701

-NAPAchr19

48018293

-
5UTR-5UTRENST00000286650ENST00000263354TTLL5chr14

76127701

-NAPAchr19

48018293

-
5UTR-intronENST00000286650ENST00000595227TTLL5chr14

76127701

-NAPAchr19

48018293

-
5UTR-intronENST00000286650ENST00000593785TTLL5chr14

76127701

-NAPAchr19

48018293

-
5UTR-5UTRENST00000298832ENST00000263354TTLL5chr14

76127701

-NAPAchr19

48018293

-
5UTR-intronENST00000298832ENST00000595227TTLL5chr14

76127701

-NAPAchr19

48018293

-
5UTR-intronENST00000298832ENST00000593785TTLL5chr14

76127701

-NAPAchr19

48018293

-
intron-5UTRENST00000556893ENST00000263354TTLL5chr14

76127701

-NAPAchr19

48018293

-
intron-intronENST00000556893ENST00000595227TTLL5chr14

76127701

-NAPAchr19

48018293

-
intron-intronENST00000556893ENST00000593785TTLL5chr14

76127701

-NAPAchr19

48018293

-
intron-5UTRENST00000554510ENST00000263354TTLL5chr14

76127701

-NAPAchr19

48018293

-
intron-intronENST00000554510ENST00000595227TTLL5chr14

76127701

-NAPAchr19

48018293

-
intron-intronENST00000554510ENST00000593785TTLL5chr14

76127701

-NAPAchr19

48018293

-
5UTR-5UTRENST00000556977ENST00000263354TTLL5chr14

76127701

-NAPAchr19

48018293

-
5UTR-intronENST00000556977ENST00000595227TTLL5chr14

76127701

-NAPAchr19

48018293

-
5UTR-intronENST00000556977ENST00000593785TTLL5chr14

76127701

-NAPAchr19

48018293

-
intron-5UTRENST00000555422ENST00000263354TTLL5chr14

76127701

-NAPAchr19

48018293

-
intron-intronENST00000555422ENST00000595227TTLL5chr14

76127701

-NAPAchr19

48018293

-
intron-intronENST00000555422ENST00000593785TTLL5chr14

76127701

-NAPAchr19

48018293

-

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FusionProtFeatures for TTLL5_NAPA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TTLL5

Q6EMB2

NAPA

P54920

Polyglutamylase which preferentially modifies alpha-tubulin. Involved in the side-chain initiation step of thepolyglutamylation reaction rather than in the elongation step (Bysimilarity). Required for CCSAP localization to both spindle andcilia microtubules. Increases the effects of NCOA2 inglucocorticoid receptor-mediated repression and induction and inandrogen receptor-mediated induction (PubMed:17116691,PubMed:22493317). {ECO:0000250|UniProtKB:Q8CHB8,ECO:0000269|PubMed:17116691, ECO:0000269|PubMed:22493317}. Required for vesicular transport between the endoplasmicreticulum and the Golgi apparatus (Probable). Together with GNA12promotes CDH5 localization to plasma membrane (PubMed:15980433).{ECO:0000269|PubMed:15980433, ECO:0000305}.

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 TTLL5_NAPA


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 TTLL5_NAPA


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 TTLL5_NAPA


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 TTLL5_NAPA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTTLL5C3495559Juvenile arthritis1CTD_human
HgeneTTLL5C4014501CONE-ROD DYSTROPHY 191UNIPROT