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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: 4741

FusionGeneSummary for C16orf70_DNAAF1

check button Fusion gene summary
Fusion gene informationFusion gene name: C16orf70_DNAAF1
Fusion gene ID: 4741
HgeneTgene
Gene symbol

C16orf70

DNAAF1

Gene ID

80262

123872

Gene namechromosome 16 open reading frame 70dynein axonemal assembly factor 1
SynonymsC16orf6|LIN10|lin-10CILD13|LRRC50|ODA7|swt
Cytomap

16q22.1

16q24.1

Type of geneprotein-codingprotein-coding
DescriptionUPF0183 protein C16orf70lin-10 homologdynein assembly factor 1, axonemalleucine-rich repeat-containing protein 50outer row dynein assembly 7 homologtesticular tissue protein Li 110
Modification date2018052320180523
UniProtAcc

Q9BSU1

Q8NEP3

Ensembl transtripts involved in fusion geneENST00000569600, ENST00000219139, 
ENST00000569683, 
ENST00000334315, 
ENST00000378553, ENST00000563818, 
Fusion gene scores* DoF score7 X 6 X 7=2942 X 2 X 2=8
# samples 72
** MAII scorelog2(7/294*10)=-2.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: C16orf70 [Title/Abstract] AND DNAAF1 [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
TCGALDESCATCGA-LN-A49L-01AC16orf70chr16

67144142

+DNAAF1chr16

84193280

+
* 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
Frame-shitENST00000569600ENST00000334315C16orf70chr16

67144142

+DNAAF1chr16

84193280

+
Frame-shitENST00000569600ENST00000378553C16orf70chr16

67144142

+DNAAF1chr16

84193280

+
5CDS-3UTRENST00000569600ENST00000563818C16orf70chr16

67144142

+DNAAF1chr16

84193280

+
Frame-shitENST00000219139ENST00000334315C16orf70chr16

67144142

+DNAAF1chr16

84193280

+
Frame-shitENST00000219139ENST00000378553C16orf70chr16

67144142

+DNAAF1chr16

84193280

+
5CDS-3UTRENST00000219139ENST00000563818C16orf70chr16

67144142

+DNAAF1chr16

84193280

+
3UTR-3CDSENST00000569683ENST00000334315C16orf70chr16

67144142

+DNAAF1chr16

84193280

+
3UTR-3CDSENST00000569683ENST00000378553C16orf70chr16

67144142

+DNAAF1chr16

84193280

+
3UTR-3UTRENST00000569683ENST00000563818C16orf70chr16

67144142

+DNAAF1chr16

84193280

+

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FusionProtFeatures for C16orf70_DNAAF1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
C16orf70

Q9BSU1

DNAAF1

Q8NEP3

Cilium-specific protein required for the stability ofthe ciliary architecture. Plays a role in cytoplasmic preassemblyof dynein arms. Involved in regulation of microtubule-based ciliaand actin-based brush border microvilli.{ECO:0000269|PubMed:18385425, ECO:0000269|PubMed:19944400,ECO:0000269|PubMed:19944405}.

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 C16orf70_DNAAF1


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 C16orf70_DNAAF1


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
C16orf70ATXN3, APP, SERPINB6, BCAS3, CELA2B, SERPINA3, NEFH, NEFL, CALML5, OCRL, APPL1, SBSN, CST6, NUP35, ANK3, MASTL, SERPINB4, SERPINB3, TGM3, POMP, POF1B, CALML3, PSMG2, GM2A, FBXO30, PPFIA1, S100A7, ZBTB16, WIPI2, MAGEE1, AZGP1DNAAF1OBSL1, GLRX3, ANKMY2, XPNPEP3, STOM


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 C16orf70_DNAAF1


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 C16orf70_DNAAF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDNAAF1C2750790CILIARY DYSKINESIA, PRIMARY, 131CTD_human;UNIPROT