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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: 29058

FusionGeneSummary for PSAP_QKI

check button Fusion gene summary
Fusion gene informationFusion gene name: PSAP_QKI
Fusion gene ID: 29058
HgeneTgene
Gene symbol

PSAP

QKI

Gene ID

729238

9444

Gene namesurfactant protein A2QKI, KH domain containing RNA binding
SynonymsCOLEC5|PSAP|PSP-A|PSPA|SFTP1|SFTPA2B|SP-2A|SP-A|SPA2|SPAIIHqk|QK|QK1|QK3|hqkI
Cytomap

10q22.3

6q26

Type of geneprotein-codingprotein-coding
Descriptionpulmonary surfactant-associated protein A235 kDa pulmonary surfactant-associated proteinalveolar proteinosis proteincollectin 5surfactant, pulmonary-associated protein A2Aprotein quakingQKI/LOC100132735 fusionRNA binding protein HQKhomolog of mouse quaking QKI (KH domain RNA binding protein)quaking homolog, KH domain RNA binding
Modification date2018052320180522
UniProtAcc

P07602

Q96PU8

Ensembl transtripts involved in fusion geneENST00000394936, ENST00000394934, 
ENST00000275262, ENST00000392127, 
ENST00000453779, ENST00000361752, 
ENST00000361195, ENST00000424802, 
Fusion gene scores* DoF score32 X 20 X 10=640013 X 14 X 6=1092
# samples 3718
** MAII scorelog2(37/6400*10)=-4.11247472925841
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(18/1092*10)=-2.60090404459018
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PSAP [Title/Abstract] AND QKI [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
TCGARVSKCMTCGA-ER-A19G-06APSAPchr10

73576058

-QKIchr6

163876363

+
* 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-shiftENST00000394936ENST00000275262PSAPchr10

73576058

-QKIchr6

163876363

+
Frame-shiftENST00000394936ENST00000392127PSAPchr10

73576058

-QKIchr6

163876363

+
Frame-shiftENST00000394936ENST00000453779PSAPchr10

73576058

-QKIchr6

163876363

+
Frame-shiftENST00000394936ENST00000361752PSAPchr10

73576058

-QKIchr6

163876363

+
Frame-shiftENST00000394936ENST00000361195PSAPchr10

73576058

-QKIchr6

163876363

+
Frame-shiftENST00000394936ENST00000424802PSAPchr10

73576058

-QKIchr6

163876363

+
Frame-shiftENST00000394934ENST00000275262PSAPchr10

73576058

-QKIchr6

163876363

+
Frame-shiftENST00000394934ENST00000392127PSAPchr10

73576058

-QKIchr6

163876363

+
Frame-shiftENST00000394934ENST00000453779PSAPchr10

73576058

-QKIchr6

163876363

+
Frame-shiftENST00000394934ENST00000361752PSAPchr10

73576058

-QKIchr6

163876363

+
Frame-shiftENST00000394934ENST00000361195PSAPchr10

73576058

-QKIchr6

163876363

+
Frame-shiftENST00000394934ENST00000424802PSAPchr10

73576058

-QKIchr6

163876363

+

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FusionProtFeatures for PSAP_QKI


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

P07602

QKI

Q96PU8


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 PSAP_QKI


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 PSAP_QKI


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
PSAPCELSR1, SGK223, MAFF, COPS6, CTSD, PSAP, UBE3A, ZBED1, USP4, TCERG1, SMARCC2, SAP18, PLAUR, SNAP23, NUP133, DNAJA1, SURF4, GDAP1, U2AF1, SNRPA1, SUMO2, SNCA, SRSF5, SSR1, THRAP3, BRCA1, SMAD9, SMAD2, CFTR, FBXO6, BAG3, BCAT1, C1QBP, GTF2F1, LAMB2, MVP, USP48, VPS29, VPS35, ERBB2, NLGN3, SOD1QKIHNRNPK, USP30, MED12, MED13, MED25, MED16, MED17, MED1, MED24, MED23, MED4, MED29, MED31, MED15, MED14, MED26, MED10, POLR2A, MED27, ELAVL1, PSMF1, C10orf10, FUBP3, HCLS1, PCBP2, PTBP1, PTBP2, RBM14, RBFOX2, RBPMS, RNF138, SERF2, THAP1, USH1C, RBFOX1, PCBP1, PCBP4, APP, NDUFA7, CDV3, ATXN1, FN1, U2AF2, RBM23, RALY, WDR77, HNRNPH2, QKI, DAZ1, IL7R, CARM1, SNRPA, RBM11, NABP1, HNRNPLL, OIP5, RBMX, ZACN, CYP1A1, NTRK1, EWSR1, HYPK, DUSP22, DUSP4, ATE1, RBM42, FBXW11, SLC39A12, VAC14, TRIM11, SYNCRIP, SNRNP27


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 PSAP_QKI


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 PSAP_QKI


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePSAPC0268262Metachromatic Leukodystrophy due to Saposin B Deficiency5CTD_human;UNIPROT
HgenePSAPC1864651GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY2CTD_human;ORPHANET;UNIPROT
TgeneQKIC0036341Schizophrenia5PSYGENET
TgeneQKIC0017638Glioma1CTD_human
TgeneQKIC0041696Unipolar Depression1PSYGENET
TgeneQKIC1269683Major Depressive Disorder1PSYGENET