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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: 29053

FusionGeneSummary for PSAP_OFD1

check button Fusion gene summary
Fusion gene informationFusion gene name: PSAP_OFD1
Fusion gene ID: 29053
HgeneTgene
Gene symbol

PSAP

OFD1

Gene ID

729238

8481

Gene namesurfactant protein A2OFD1, centriole and centriolar satellite protein
SynonymsCOLEC5|PSAP|PSP-A|PSPA|SFTP1|SFTPA2B|SP-2A|SP-A|SPA2|SPAII71-7A|CXorf5|JBTS10|RP23|SGBS2
Cytomap

10q22.3

Xp22.2

Type of geneprotein-codingprotein-coding
Descriptionpulmonary surfactant-associated protein A235 kDa pulmonary surfactant-associated proteinalveolar proteinosis proteincollectin 5surfactant, pulmonary-associated protein A2Aoral-facial-digital syndrome 1 proteinprotein 71-7A
Modification date2018052320180522
UniProtAcc

P07602

O75665

Ensembl transtripts involved in fusion geneENST00000394936, ENST00000394934, 
ENST00000380550, ENST00000398395, 
ENST00000380567, ENST00000340096, 
ENST00000490265, 
Fusion gene scores* DoF score32 X 20 X 10=64005 X 5 X 3=75
# samples 375
** MAII scorelog2(37/6400*10)=-4.11247472925841
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PSAP [Title/Abstract] AND OFD1 [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
TCGARVUCSTCGA-N7-A59B-01APSAPchr10

73576307

-OFD1chrX

13786837

+
* 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-3CDSENST00000394936ENST00000380550PSAPchr10

73576307

-OFD1chrX

13786837

+
intron-intronENST00000394936ENST00000398395PSAPchr10

73576307

-OFD1chrX

13786837

+
intron-intronENST00000394936ENST00000380567PSAPchr10

73576307

-OFD1chrX

13786837

+
intron-intronENST00000394936ENST00000340096PSAPchr10

73576307

-OFD1chrX

13786837

+
intron-3UTRENST00000394936ENST00000490265PSAPchr10

73576307

-OFD1chrX

13786837

+
intron-3CDSENST00000394934ENST00000380550PSAPchr10

73576307

-OFD1chrX

13786837

+
intron-intronENST00000394934ENST00000398395PSAPchr10

73576307

-OFD1chrX

13786837

+
intron-intronENST00000394934ENST00000380567PSAPchr10

73576307

-OFD1chrX

13786837

+
intron-intronENST00000394934ENST00000340096PSAPchr10

73576307

-OFD1chrX

13786837

+
intron-3UTRENST00000394934ENST00000490265PSAPchr10

73576307

-OFD1chrX

13786837

+

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FusionProtFeatures for PSAP_OFD1


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

P07602

OFD1

O75665

Component of the centrioles controlling mother anddaughter centrioles length. Recruits to the centriole IFT88 andcentriole distal appendage-specific proteins including CEP164.Involved in the biogenesis of the cilium, a centriole-associatedfunction. The cilium is a cell surface projection found in manyvertebrate cells required to transduce signals important fordevelopment and tissue homeostasis. Plays an important role indevelopment by regulating Wnt signaling and the specification ofthe left-right axis. Only OFD1 localized at the centriolarsatellites is removed by autophagy, which is an important step inthe ciliogenesis regulation (By similarity). {ECO:0000250}.

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_OFD1


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_OFD1


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, SOD1OFD1EIF6, GPRASP1, CCSER2, KIAA1377, LUC7L2, OFD1, RUVBL1, TRRAP, PAN2, PLK1, NME7, AMOT, CTTNBP2NL, LATS1, LATS2, RASSF2, SAV1, SLMAP, CCDC8, TRAK2, NTRK1, BTRC, PLK4, CEP192, CEP63, CCDC67, KIAA0753, CCDC14, MED4, AHI1, CC2D2A, CEP162, CEP290, RPGRIP1L, LCA5, PCM1, SUPT5H, DYNLL1, MAPRE1, RCN1, AKAP12, SREK1IP1, DENND4C, MRE11A, NBN, RAD50, SNRPC, TP53, TUBA1A, TUBA1B, FARSA, CEP170B, SAE1, SDCCAG3, STRAP, IMPDH2, IQGAP1, PA2G4, TCOF1, UBA2, NDE1, RP9, IPO5, NAP1L4, CTPS1, PGD, CEP131, KLC1, SSX2IP, ADSL, AIP, ALDH1B1, AURKB, BCAS3, C10orf88, TMEM256, CACYBP, CC2D1A, CCDC138, CCDC22, CCDC57, CCDC85C, CCNA2, CCNB1, CDC37, CDK2, CEP55, CEP85, COMMD2, COMMD4, CSPP1, DIAPH3, DNAJA1, DNAJC7, DNM2, DPCD, EIF4ENIF1, ERC1, FGFR1OP, FKBP4, FOPNL, GIGYF1, GPATCH1, HAUS3, HAUS6, HAUS7, HAUS8, HINT1, HYOU1, IDH3B, IFT57, IFT74, IFT81, KIAA1524, MPHOSPH9, NCKAP5L, NEDD1, NUDC, NUDCD3, PDRG1, PIBF1, PIH1D1, POLR2E, PSMD14, PYGL, RAB2A, RFC5, RPAP3, RRM2, SDCCAG8, SPC24, STAM2, STIP1, STXBP4, SUGT1, TCHP, TIMM23B, TNIP1, TNRC6B, TP53BP2, TXLNA, UNC45A, URI1, USP22, UXT, WDR83, WDR92, YARS2, ANAPC5, CNOT11, CAMSAP3, CCDC18, CEP164, CEP170, CEP350, CEP72, CLTC, COMMD3-BMI1, COPA, CTBP1, DSP, DYNC1H1, EHBP1, EXOC4, FAM21A, FLOT1, GARS, HAUS2, HAUS5, HSPA4, IGF2BP2, KIAA1671, KLC2, LONP1, LUZP1, MTCH2, NAA10, NDC80, NIN, NNT, PDIA3, PDZRN3, PLEKHG1, PLOD1, PSMD2, PSMD7, RAB11B, RAB6A, RABEP1, RPAP2, RRM1, SDHC, SEC63, SPAG5, SPC25, SRSF2, TBC1D2B, TBK1, EMC3, TSFM, TTLL12, TXLNG, CEP104, CEP120, CEP152, CNTROB, SPICE1, CEP128, CEP135, CEP44, CEP89, CNTRL, FBF1, NINL, ODF2, POC5, SASS6, RPGRIP1, STIL, C12orf5, KIAA1279, CENPJ, BBS4, KIFC3, PRKAR2A, ELL, CENPE, CSNK1E, PCNT, PRKAR2B, PPP2R3C, BAG2, ELL2, TTLL5, PLEKHM2, ICE1, C2CD3, WRAP73, MCM10, MIB1, KIAA1328, ICE2, CCDC77, CEP295, PHLDB2, TBC1D31, WDR90, FAM83B, CCDC61, TPTE2, ENSA, MIS18A, SKP2, NDEL1, NCAPH2, THSD4, C6orf141, CHST3, AIMP2, QARS, AIMP1, LARS, KARS, IARS, DYNLL2


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_OFD1


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_OFD1


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
TgeneOFD1C1510460Orofaciodigital Syndrome I5ORPHANET;UNIPROT
TgeneOFD1C0265251Oto-Palato-digital syndrome type 11CTD_human