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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: 1498

FusionGeneSummary for ALDH9A1_PSAP

check button Fusion gene summary
Fusion gene informationFusion gene name: ALDH9A1_PSAP
Fusion gene ID: 1498
HgeneTgene
Gene symbol

ALDH9A1

PSAP

Gene ID

223

729238

Gene namealdehyde dehydrogenase 9 family member A1surfactant protein A2
SynonymsALDH4|ALDH7|ALDH9|E3|TMABADHCOLEC5|PSAP|PSP-A|PSPA|SFTP1|SFTPA2B|SP-2A|SP-A|SPA2|SPAII
Cytomap

1q24.1

10q22.3

Type of geneprotein-codingprotein-coding
Description4-trimethylaminobutyraldehyde dehydrogenaseR-aminobutyraldehyde dehydrogenasealdehyde dehydrogenase (NAD+)aldehyde dehydrogenase E3 isozymealdehyde dehydrogenase family 9 member A1gamma-aminobutyraldehyde dehydrogenasepulmonary surfactant-associated protein A235 kDa pulmonary surfactant-associated proteinalveolar proteinosis proteincollectin 5surfactant, pulmonary-associated protein A2A
Modification date2018052320180523
UniProtAcc

P49189

P07602

Ensembl transtripts involved in fusion geneENST00000354775, ENST00000538148, 
ENST00000461664, 
ENST00000394936, 
ENST00000394934, 
Fusion gene scores* DoF score4 X 4 X 4=6412 X 17 X 4=816
# samples 418
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/816*10)=-2.18057224564182
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ALDH9A1 [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
HgeneALDH9A1

GO:0006081

cellular aldehyde metabolic process

8645224

HgeneALDH9A1

GO:0042136

neurotransmitter biosynthetic process

2925663

HgeneALDH9A1

GO:0055114

oxidation-reduction process

2925663


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
ChiTaRS3.1BP391559ALDH9A1chr1

165638556

+PSAPchr10

73576501

-
* 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-3UTRENST00000354775ENST00000394936ALDH9A1chr1

165638556

+PSAPchr10

73576501

-
intron-3UTRENST00000354775ENST00000394934ALDH9A1chr1

165638556

+PSAPchr10

73576501

-
intron-3UTRENST00000538148ENST00000394936ALDH9A1chr1

165638556

+PSAPchr10

73576501

-
intron-3UTRENST00000538148ENST00000394934ALDH9A1chr1

165638556

+PSAPchr10

73576501

-
intron-3UTRENST00000461664ENST00000394936ALDH9A1chr1

165638556

+PSAPchr10

73576501

-
intron-3UTRENST00000461664ENST00000394934ALDH9A1chr1

165638556

+PSAPchr10

73576501

-

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FusionProtFeatures for ALDH9A1_PSAP


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ALDH9A1

P49189

PSAP

P07602

Converts gamma-trimethylaminobutyraldehyde into gamma-butyrobetaine. Catalyzes the irreversible oxidation of a broadrange of aldehydes to the corresponding acids in an NAD-dependentreaction. {ECO:0000269|PubMed:10702312}.

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 ALDH9A1_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).

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FusionGenePPI for ALDH9A1_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


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RelatedDrugs for ALDH9A1_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

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RelatedDiseases for ALDH9A1_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