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: 10191

FusionGeneSummary for DNAH6_PSAP

check button Fusion gene summary
Fusion gene informationFusion gene name: DNAH6_PSAP
Fusion gene ID: 10191
HgeneTgene
Gene symbol

DNAH6

PSAP

Gene ID

1768

729238

Gene namedynein axonemal heavy chain 6surfactant protein A2
SynonymsDNHL1|Dnahc6|HL-2|HL2COLEC5|PSAP|PSP-A|PSPA|SFTP1|SFTPA2B|SP-2A|SP-A|SPA2|SPAII
Cytomap

2p11.2

10q22.3

Type of geneprotein-codingprotein-coding
Descriptiondynein heavy chain 6, axonemalaxonemal beta dynein heavy chain 6ciliary dynein heavy chain 6dynein heavy chain-like 1dynein, axonemal, heavy polypeptide 6pulmonary surfactant-associated protein A235 kDa pulmonary surfactant-associated proteinalveolar proteinosis proteincollectin 5surfactant, pulmonary-associated protein A2A
Modification date2018052320180523
UniProtAcc

Q9C0G6

P07602

Ensembl transtripts involved in fusion geneENST00000389394, ENST00000237449, 
ENST00000398278, ENST00000468661, 
ENST00000602588, 
ENST00000394936, 
ENST00000394934, 
Fusion gene scores* DoF score2 X 2 X 1=412 X 17 X 4=816
# samples 218
** MAII scorelog2(2/4*10)=2.32192809488736log2(18/816*10)=-2.18057224564182
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DNAH6 [Title/Abstract] AND PSAP [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
ChiTaRS3.1BP430892DNAH6chr2

85004658

-PSAPchr10

73576601

-
* 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-3UTRENST00000389394ENST00000394936DNAH6chr2

85004658

-PSAPchr10

73576601

-
intron-3UTRENST00000389394ENST00000394934DNAH6chr2

85004658

-PSAPchr10

73576601

-
intron-3UTRENST00000237449ENST00000394936DNAH6chr2

85004658

-PSAPchr10

73576601

-
intron-3UTRENST00000237449ENST00000394934DNAH6chr2

85004658

-PSAPchr10

73576601

-
intron-3UTRENST00000398278ENST00000394936DNAH6chr2

85004658

-PSAPchr10

73576601

-
intron-3UTRENST00000398278ENST00000394934DNAH6chr2

85004658

-PSAPchr10

73576601

-
intron-3UTRENST00000468661ENST00000394936DNAH6chr2

85004658

-PSAPchr10

73576601

-
intron-3UTRENST00000468661ENST00000394934DNAH6chr2

85004658

-PSAPchr10

73576601

-
intron-3UTRENST00000602588ENST00000394936DNAH6chr2

85004658

-PSAPchr10

73576601

-
intron-3UTRENST00000602588ENST00000394934DNAH6chr2

85004658

-PSAPchr10

73576601

-

Top

FusionProtFeatures for DNAH6_PSAP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DNAH6

Q9C0G6

PSAP

P07602


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 DNAH6_PSAP


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 DNAH6_PSAP


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


Top

RelatedDrugs for DNAH6_PSAP


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

Top

RelatedDiseases for DNAH6_PSAP


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePSAPC0268262Metachromatic Leukodystrophy due to Saposin B Deficiency5CTD_human;UNIPROT
TgenePSAPC1864651GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY2CTD_human;ORPHANET;UNIPROT