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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: 550

FusionGeneSummary for ACTG1_DGCR6L

check button Fusion gene summary
Fusion gene informationFusion gene name: ACTG1_DGCR6L
Fusion gene ID: 550
HgeneTgene
Gene symbol

ACTG1

DGCR6L

Gene ID

71

85359

Gene nameactin gamma 1DiGeorge syndrome critical region gene 6 like
SynonymsACT|ACTG|DFNA20|DFNA26|HEL-176DGCR6
Cytomap

17q25.3

22q11.21

Type of geneprotein-codingprotein-coding
Descriptionactin, cytoplasmic 2cytoskeletal gamma-actinepididymis luminal protein 176protein DGCR6LdiGeorge syndrome critical region 6-like protein
Modification date2018052220180519
UniProtAcc

P63261

Q9BY27

Ensembl transtripts involved in fusion geneENST00000331925, ENST00000573283, 
ENST00000575842, ENST00000575087, 
ENST00000248879, ENST00000405465, 
Fusion gene scores* DoF score25 X 19 X 11=52251 X 1 X 1=1
# samples 341
** MAII scorelog2(34/5225*10)=-3.94182438571791
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: ACTG1 [Title/Abstract] AND DGCR6L [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
ChiTaRS3.1CN257271ACTG1chr17

79478953

-DGCR6Lchr22

20301849

-
* 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-3UTRENST00000331925ENST00000248879ACTG1chr17

79478953

-DGCR6Lchr22

20301849

-
intron-3UTRENST00000331925ENST00000405465ACTG1chr17

79478953

-DGCR6Lchr22

20301849

-
intron-3UTRENST00000573283ENST00000248879ACTG1chr17

79478953

-DGCR6Lchr22

20301849

-
intron-3UTRENST00000573283ENST00000405465ACTG1chr17

79478953

-DGCR6Lchr22

20301849

-
intron-3UTRENST00000575842ENST00000248879ACTG1chr17

79478953

-DGCR6Lchr22

20301849

-
intron-3UTRENST00000575842ENST00000405465ACTG1chr17

79478953

-DGCR6Lchr22

20301849

-
intron-3UTRENST00000575087ENST00000248879ACTG1chr17

79478953

-DGCR6Lchr22

20301849

-
intron-3UTRENST00000575087ENST00000405465ACTG1chr17

79478953

-DGCR6Lchr22

20301849

-

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FusionProtFeatures for ACTG1_DGCR6L


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACTG1

P63261

DGCR6L

Q9BY27

Actins are highly conserved proteins that are involvedin various types of cell motility and are ubiquitously expressedin all eukaryotic cells. May play a role in neural crest cell migration into thethird and fourth pharyngeal pouches.

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 ACTG1_DGCR6L


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 ACTG1_DGCR6L


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 ACTG1_DGCR6L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneACTG1P63261DB11638ArtenimolActin, cytoplasmic 2small moleculeapproved|investigational

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RelatedDiseases for ACTG1_DGCR6L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACTG1C1858172Deafness, Autosomal Dominant 205CTD_human;UNIPROT
HgeneACTG1C0007621Neoplastic Cell Transformation1CTD_human
HgeneACTG1C0009363Congenital ocular coloboma (disorder)1CTD_human
HgeneACTG1C0024667Animal Mammary Neoplasms1CTD_human
HgeneACTG1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneACTG1C0029456Osteoporosis1CTD_human
HgeneACTG1C0376634Craniofacial Abnormalities1CTD_human
HgeneACTG1C0497552Congenital neurologic anomalies1CTD_human
HgeneACTG1C0948089Acute Coronary Syndrome1CTD_human
HgeneACTG1C3281235BARAITSER-WINTER SYNDROME 21UNIPROT