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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: 33522

FusionGeneSummary for SFTPB_MUC1

check button Fusion gene summary
Fusion gene informationFusion gene name: SFTPB_MUC1
Fusion gene ID: 33522
HgeneTgene
Gene symbol

SFTPB

MUC1

Gene ID

6439

4582

Gene namesurfactant protein Bmucin 1, cell surface associated
SynonymsPSP-B|SFTB3|SFTP3|SMDP1|SP-BADMCKD|ADMCKD1|CA 15-3|CD227|EMA|H23AG|KL-6|MAM6|MCD|MCKD|MCKD1|MUC-1|MUC-1/SEC|MUC-1/X|MUC1/ZD|PEM|PEMT|PUM
Cytomap

2p11.2

1q22

Type of geneprotein-codingprotein-coding
Descriptionpulmonary surfactant-associated protein B18 kDa pulmonary-surfactant protein6 kDa proteinpulmonary surfactant-associated proteolipid SPL(Phe)mucin-1H23 antigenbreast carcinoma-associated antigen DF3cancer antigen 15-3carcinoma-associated mucinepisialinkrebs von den Lungen-6mucin 1, transmembranepeanut-reactive urinary mucinpolymorphic epithelial mucintumor associated epithelial mucin
Modification date2018052320180527
UniProtAcc

P07988

P15941

Ensembl transtripts involved in fusion geneENST00000519937, ENST00000342375, 
ENST00000393822, ENST00000409383, 
ENST00000368395, ENST00000338684, 
ENST00000438413, ENST00000457295, 
ENST00000462215, ENST00000368392, 
ENST00000368393, ENST00000368390, 
ENST00000368396, ENST00000343256, 
ENST00000368398, ENST00000368389, 
ENST00000342482, ENST00000337604, 
Fusion gene scores* DoF score15 X 13 X 2=3904 X 5 X 2=40
# samples 168
** MAII scorelog2(16/390*10)=-1.28540221886225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/40*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SFTPB [Title/Abstract] AND MUC1 [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
TgeneMUC1

GO:0006977

DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest

15710329

TgeneMUC1

GO:0006978

DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator

15710329

TgeneMUC1

GO:0010944

negative regulation of transcription by competitive promoter binding

15710329

TgeneMUC1

GO:0033629

negative regulation of cell adhesion mediated by integrin

7698991

TgeneMUC1

GO:0036003

positive regulation of transcription from RNA polymerase II promoter in response to stress

15710329

TgeneMUC1

GO:0043618

regulation of transcription from RNA polymerase II promoter in response to stress

15710329

TgeneMUC1

GO:0090240

positive regulation of histone H4 acetylation

15710329

TgeneMUC1

GO:1902166

negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator

15710329


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
TCGALDLUADTCGA-69-8253-01ASFTPBchr2

85892412

-MUC1chr1

155160707

-
* 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-shitENST00000519937ENST00000368395SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000338684SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000438413SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000457295SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000462215SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000368392SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000368393SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000368390SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000368396SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000343256SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000368398SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000368389SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000342482SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000519937ENST00000337604SFTPBchr2

85892412

-MUC1chr1

155160707

-
Frame-shitENST00000342375ENST00000368395SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000338684SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000438413SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000457295SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000462215SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000368392SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000368393SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000368390SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000368396SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000343256SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000368398SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000368389SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000342482SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000342375ENST00000337604SFTPBchr2

85892412

-MUC1chr1

155160707

-
Frame-shitENST00000393822ENST00000368395SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000338684SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000438413SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000457295SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000462215SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000368392SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000368393SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000368390SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000368396SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000343256SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000368398SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000368389SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000342482SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000393822ENST00000337604SFTPBchr2

85892412

-MUC1chr1

155160707

-
Frame-shitENST00000409383ENST00000368395SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000338684SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000438413SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000457295SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000462215SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000368392SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000368393SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000368390SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000368396SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000343256SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000368398SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000368389SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000342482SFTPBchr2

85892412

-MUC1chr1

155160707

-
5CDS-intronENST00000409383ENST00000337604SFTPBchr2

85892412

-MUC1chr1

155160707

-

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FusionProtFeatures for SFTPB_MUC1


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

P07988

MUC1

P15941

Pulmonary surfactant-associated proteins promotealveolar stability by lowering the surface tension at the air-liquid interface in the peripheral air spaces. SP-B increases thecollapse pressure of palmitic acid to nearly 70 millinewtons permeter.

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 SFTPB_MUC1


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 SFTPB_MUC1


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
SFTPBMUC1APC, CTNNB1, GSK3B, LYN, ERBB2, JUP, GALNT4, GALNT12, GRB2, SOS1, SRC, CTNND1, ERBB3, ERBB4, EGFR, PRKCD, ESR1, IKBKB, IKBKG, TNFRSF1A, TP53, TBP, JUN, ABL1, IPO5, NUP62, PPARG, ATP6V0A2, ATP6V0A1, HBD, BMI1, TMEM199, ATP11C, TMEM59L, TMEM63B, MYADM, TMEM67, CCDC115, TNFSF9, ACTBL2, VAMP2, ACTA2


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 SFTPB_MUC1


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 SFTPB_MUC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSFTPBC0019284Diaphragmatic Hernia2CTD_human
HgeneSFTPBC0024115Lung diseases1CTD_human
HgeneSFTPBC0024121Lung Neoplasms1CTD_human
HgeneSFTPBC1968602Surfactant Metabolism Dysfunction, Pulmonary, 11CTD_human;ORPHANET;UNIPROT
TgeneMUC1C0007621Neoplastic Cell Transformation1CTD_human
TgeneMUC1C0025500Mesothelioma1CTD_human
TgeneMUC1C0026764Multiple Myeloma1CTD_human
TgeneMUC1C0031149Peritoneal Neoplasms1CTD_human
TgeneMUC1C0038356Stomach Neoplasms1CTD_human
TgeneMUC1C0345967Malignant mesothelioma1CTD_human
TgeneMUC1C1868139Medullary cystic kidney disease 11CTD_human