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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: 13844

FusionGeneSummary for FOXP1_SMC1A

check button Fusion gene summary
Fusion gene informationFusion gene name: FOXP1_SMC1A
Fusion gene ID: 13844
HgeneTgene
Gene symbol

FOXP1

SMC1A

Gene ID

27086

8243

Gene nameforkhead box P1structural maintenance of chromosomes 1A
Synonyms12CC4|HSPC215|MFH|QRF1|hFKH1BCDLS2|DXS423E|SB1.8|SMC1|SMC1L1|SMC1alpha|SMCB
Cytomap

3p13

Xp11.22

Type of geneprotein-codingprotein-coding
Descriptionforkhead box protein P1fork head-related protein like Bglutamine-rich factor 1mac-1-regulated forkheadstructural maintenance of chromosomes protein 1ASMC protein 1ASMC-1-alphaSMC1 (structural maintenance of chromosomes 1, yeast)-like 1segregation of mitotic chromosomes 1
Modification date2018052220180522
UniProtAcc

Q9H334

Q14683

Ensembl transtripts involved in fusion geneENST00000318789, ENST00000475937, 
ENST00000493089, ENST00000484350, 
ENST00000318779, ENST00000491238, 
ENST00000498215, ENST00000468577, 
ENST00000472382, 
ENST00000322213, 
ENST00000469129, ENST00000375340, 
Fusion gene scores* DoF score21 X 13 X 11=30034 X 4 X 3=48
# samples 264
** MAII scorelog2(26/3003*10)=-3.52982094652869
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FOXP1 [Title/Abstract] AND SMC1A [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
HgeneFOXP1

GO:0002903

negative regulation of B cell apoptotic process

25267198

HgeneFOXP1

GO:0030316

osteoclast differentiation

18799727

HgeneFOXP1

GO:0032496

response to lipopolysaccharide

18799727

HgeneFOXP1

GO:0032680

regulation of tumor necrosis factor production

18799727

HgeneFOXP1

GO:0035926

chemokine (C-C motif) ligand 2 secretion

18799727

HgeneFOXP1

GO:0036035

osteoclast development

18799727

HgeneFOXP1

GO:0042116

macrophage activation

18799727

HgeneFOXP1

GO:0042117

monocyte activation

18799727

HgeneFOXP1

GO:0045655

regulation of monocyte differentiation

15286807

HgeneFOXP1

GO:0045892

negative regulation of transcription, DNA-templated

20950788

HgeneFOXP1

GO:0050706

regulation of interleukin-1 beta secretion

18799727

HgeneFOXP1

GO:0050727

regulation of inflammatory response

18799727

HgeneFOXP1

GO:0060766

negative regulation of androgen receptor signaling pathway

18640093

HgeneFOXP1

GO:1900424

regulation of defense response to bacterium

18799727

HgeneFOXP1

GO:1901256

regulation of macrophage colony-stimulating factor production

18799727

HgeneFOXP1

GO:2001182

regulation of interleukin-12 secretion

18799727

TgeneSMC1A

GO:0072423

response to DNA damage checkpoint signaling

11877377


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
ChiTaRS3.1BF897241FOXP1chr3

71454241

+SMC1AchrX

53441649

-
* 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-intronENST00000318789ENST00000322213FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000318789ENST00000469129FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000318789ENST00000375340FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000475937ENST00000322213FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000475937ENST00000469129FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000475937ENST00000375340FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000493089ENST00000322213FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000493089ENST00000469129FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000493089ENST00000375340FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000484350ENST00000322213FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000484350ENST00000469129FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000484350ENST00000375340FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000318779ENST00000322213FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000318779ENST00000469129FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000318779ENST00000375340FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000491238ENST00000322213FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000491238ENST00000469129FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000491238ENST00000375340FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000498215ENST00000322213FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000498215ENST00000469129FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000498215ENST00000375340FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000468577ENST00000322213FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000468577ENST00000469129FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000468577ENST00000375340FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000472382ENST00000322213FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000472382ENST00000469129FOXP1chr3

71454241

+SMC1AchrX

53441649

-
intron-intronENST00000472382ENST00000375340FOXP1chr3

71454241

+SMC1AchrX

53441649

-

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FusionProtFeatures for FOXP1_SMC1A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FOXP1

Q9H334

SMC1A

Q14683

Involved in chromosome cohesion during cell cycle and inDNA repair. Central component of cohesin complex. The cohesincomplex is required for the cohesion of sister chromatids afterDNA replication. The cohesin complex apparently forms a largeproteinaceous ring within which sister chromatids can be trapped.At anaphase, the complex is cleaved and dissociates fromchromatin, allowing sister chromatids to segregate. The cohesincomplex may also play a role in spindle pole assembly duringmitosis. Involved in DNA repair via its interaction with BRCA1 andits related phosphorylation by ATM, or via its phosphorylation byATR. Works as a downstream effector both in the ATM/NBS1 branchand in the ATR/MSH2 branch of S-phase checkpoint.{ECO:0000269|PubMed:11877377}.

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 FOXP1_SMC1A


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 FOXP1_SMC1A


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 FOXP1_SMC1A


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 FOXP1_SMC1A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFOXP1C0024232Lymphatic Metastasis1CTD_human
HgeneFOXP1C0027626Neoplasm Invasiveness1CTD_human
HgeneFOXP1C0030297Pancreatic Neoplasm1CTD_human
HgeneFOXP1C0042900Vitiligo1CTD_human
HgeneFOXP1C0279628Adenocarcinoma Of Esophagus1CTD_human
HgeneFOXP1C1510586Autism Spectrum Disorders1CTD_human
HgeneFOXP1C3495559Juvenile arthritis1CTD_human
HgeneFOXP1C4013764MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES1CTD_human;ORPHANET;UNIPROT
TgeneSMC1AC1802395Congenital muscular hypertrophy-cerebral syndrome5UNIPROT
TgeneSMC1AC0005695Bladder Neoplasm1CTD_human
TgeneSMC1AC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneSMC1AC0023470Myeloid Leukemia1CTD_human