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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: 34809

FusionGeneSummary for SMARCAD1_SMARCAD1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMARCAD1_SMARCAD1
Fusion gene ID: 34809
HgeneTgene
Gene symbol

SMARCAD1

SMARCAD1

Gene ID

56916

56916

Gene nameSWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SynonymsADERM|BASNS|ETL1|HEL1ADERM|BASNS|ETL1|HEL1
Cytomap

4q22.3

4q22.3

Type of geneprotein-codingprotein-coding
DescriptionSWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1ATP-dependent helicase 1SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A containing DEAD/H box 1ATP-dependent helicase 1
Modification date2018051920180519
UniProtAcc

Q9H4L7

Q9H4L7

Ensembl transtripts involved in fusion geneENST00000457823, ENST00000354268, 
ENST00000509418, 
ENST00000457823, 
ENST00000354268, ENST00000509418, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 2=18
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SMARCAD1 [Title/Abstract] AND SMARCAD1 [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
ChiTaRS3.1AA828699SMARCAD1chr4

95183952

+SMARCAD1chr4

95184036

-
* 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-intronENST00000457823ENST00000457823SMARCAD1chr4

95183952

+SMARCAD1chr4

95184036

-
intron-intronENST00000457823ENST00000354268SMARCAD1chr4

95183952

+SMARCAD1chr4

95184036

-
intron-intronENST00000457823ENST00000509418SMARCAD1chr4

95183952

+SMARCAD1chr4

95184036

-
intron-intronENST00000354268ENST00000457823SMARCAD1chr4

95183952

+SMARCAD1chr4

95184036

-
intron-intronENST00000354268ENST00000354268SMARCAD1chr4

95183952

+SMARCAD1chr4

95184036

-
intron-intronENST00000354268ENST00000509418SMARCAD1chr4

95183952

+SMARCAD1chr4

95184036

-
intron-intronENST00000509418ENST00000457823SMARCAD1chr4

95183952

+SMARCAD1chr4

95184036

-
intron-intronENST00000509418ENST00000354268SMARCAD1chr4

95183952

+SMARCAD1chr4

95184036

-
intron-intronENST00000509418ENST00000509418SMARCAD1chr4

95183952

+SMARCAD1chr4

95184036

-

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FusionProtFeatures for SMARCAD1_SMARCAD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMARCAD1

Q9H4L7

SMARCAD1

Q9H4L7

DNA helicase that possesses intrinsic ATP-dependentnucleosome-remodeling activity and is both required for DNA repairand heterochromatin organization. Promotes DNA end resection ofdouble-strand breaks (DSBs) following DNA damage: probably acts byweakening histone DNA interactions in nucleosomes flanking DSBs.Required for the restoration of heterochromatin organization afterreplication. Acts at replication sites to facilitate themaintenance of heterochromatin by directing H3 and H4 histonesdeacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restorationof silencing. {ECO:0000269|PubMed:21549307,ECO:0000269|PubMed:22960744}. DNA helicase that possesses intrinsic ATP-dependentnucleosome-remodeling activity and is both required for DNA repairand heterochromatin organization. Promotes DNA end resection ofdouble-strand breaks (DSBs) following DNA damage: probably acts byweakening histone DNA interactions in nucleosomes flanking DSBs.Required for the restoration of heterochromatin organization afterreplication. Acts at replication sites to facilitate themaintenance of heterochromatin by directing H3 and H4 histonesdeacetylation, H3 'Lys-9' trimethylation (H3K9me3) and restorationof silencing. {ECO:0000269|PubMed:21549307,ECO:0000269|PubMed:22960744}.

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 SMARCAD1_SMARCAD1


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 SMARCAD1_SMARCAD1


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 SMARCAD1_SMARCAD1


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 SMARCAD1_SMARCAD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource