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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: 650

FusionGeneSummary for ACVR1_CCDC148

check button Fusion gene summary
Fusion gene informationFusion gene name: ACVR1_CCDC148
Fusion gene ID: 650
HgeneTgene
Gene symbol

ACVR1

CCDC148

Gene ID

90

130940

Gene nameactivin A receptor type 1coiled-coil domain containing 148
SynonymsACTRI|ACVR1A|ACVRLK2|ALK2|FOP|SKR1|TSRI-
Cytomap

2q24.1

2q24.1

Type of geneprotein-codingprotein-coding
Descriptionactivin receptor type-1TGF-B superfamily receptor type Iactivin A receptor, type Iactivin A receptor, type II-like kinase 2activin receptor type Iactivin receptor-like kinase 2hydroxyalkyl-protein kinaseserine/threonine-protein kinase receptor R1coiled-coil domain-containing protein 148
Modification date2018052320180519
UniProtAcc

Q04771

Q8NFR7

Ensembl transtripts involved in fusion geneENST00000263640, ENST00000409283, 
ENST00000434821, ENST00000410057, 
ENST00000487456, 
ENST00000283233, 
ENST00000409187, ENST00000536771, 
ENST00000409889, ENST00000491563, 
Fusion gene scores* DoF score5 X 4 X 5=1004 X 5 X 4=80
# samples 75
** MAII scorelog2(7/100*10)=-0.514573172829758
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACVR1 [Title/Abstract] AND CCDC148 [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
HgeneACVR1

GO:0006468

protein phosphorylation

12065756|19506109

HgeneACVR1

GO:0007179

transforming growth factor beta receptor signaling pathway

8242742

HgeneACVR1

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

19506109

HgeneACVR1

GO:0018107

peptidyl-threonine phosphorylation

19736306

HgeneACVR1

GO:0030509

BMP signaling pathway

18436533

HgeneACVR1

GO:0032924

activin receptor signaling pathway

19506109

HgeneACVR1

GO:0045893

positive regulation of transcription, DNA-templated

8242742

HgeneACVR1

GO:0045944

positive regulation of transcription by RNA polymerase II

19506109

HgeneACVR1

GO:0060389

pathway-restricted SMAD protein phosphorylation

19736306

HgeneACVR1

GO:2000017

positive regulation of determination of dorsal identity

19506109


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
TCGARVLUADTCGA-44-7660-01AACVR1chr2

158674897

-CCDC148chr2

159035508

-
TCGARVUCECTCGA-5B-A90C-01AACVR1chr2

158655939

-CCDC148chr2

159145348

-
* 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
5UTR-3CDSENST00000263640ENST00000283233ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-3CDSENST00000263640ENST00000409187ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-intronENST00000263640ENST00000536771ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-intronENST00000263640ENST00000409889ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-intronENST00000263640ENST00000491563ACVR1chr2

158674897

-CCDC148chr2

159035508

-
intron-3CDSENST00000409283ENST00000283233ACVR1chr2

158674897

-CCDC148chr2

159035508

-
intron-3CDSENST00000409283ENST00000409187ACVR1chr2

158674897

-CCDC148chr2

159035508

-
intron-intronENST00000409283ENST00000536771ACVR1chr2

158674897

-CCDC148chr2

159035508

-
intron-intronENST00000409283ENST00000409889ACVR1chr2

158674897

-CCDC148chr2

159035508

-
intron-intronENST00000409283ENST00000491563ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-3CDSENST00000434821ENST00000283233ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-3CDSENST00000434821ENST00000409187ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-intronENST00000434821ENST00000536771ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-intronENST00000434821ENST00000409889ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-intronENST00000434821ENST00000491563ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-3CDSENST00000410057ENST00000283233ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-3CDSENST00000410057ENST00000409187ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-intronENST00000410057ENST00000536771ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-intronENST00000410057ENST00000409889ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5UTR-intronENST00000410057ENST00000491563ACVR1chr2

158674897

-CCDC148chr2

159035508

-
intron-3CDSENST00000487456ENST00000283233ACVR1chr2

158674897

-CCDC148chr2

159035508

-
intron-3CDSENST00000487456ENST00000409187ACVR1chr2

158674897

-CCDC148chr2

159035508

-
intron-intronENST00000487456ENST00000536771ACVR1chr2

158674897

-CCDC148chr2

159035508

-
intron-intronENST00000487456ENST00000409889ACVR1chr2

158674897

-CCDC148chr2

159035508

-
intron-intronENST00000487456ENST00000491563ACVR1chr2

158674897

-CCDC148chr2

159035508

-
5CDS-intronENST00000263640ENST00000283233ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000263640ENST00000409187ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000263640ENST00000536771ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000263640ENST00000409889ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000263640ENST00000491563ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000409283ENST00000283233ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000409283ENST00000409187ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000409283ENST00000536771ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000409283ENST00000409889ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000409283ENST00000491563ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000434821ENST00000283233ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000434821ENST00000409187ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000434821ENST00000536771ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000434821ENST00000409889ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000434821ENST00000491563ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000410057ENST00000283233ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000410057ENST00000409187ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000410057ENST00000536771ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000410057ENST00000409889ACVR1chr2

158655939

-CCDC148chr2

159145348

-
5CDS-intronENST00000410057ENST00000491563ACVR1chr2

158655939

-CCDC148chr2

159145348

-
intron-intronENST00000487456ENST00000283233ACVR1chr2

158655939

-CCDC148chr2

159145348

-
intron-intronENST00000487456ENST00000409187ACVR1chr2

158655939

-CCDC148chr2

159145348

-
intron-intronENST00000487456ENST00000536771ACVR1chr2

158655939

-CCDC148chr2

159145348

-
intron-intronENST00000487456ENST00000409889ACVR1chr2

158655939

-CCDC148chr2

159145348

-
intron-intronENST00000487456ENST00000491563ACVR1chr2

158655939

-CCDC148chr2

159145348

-

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FusionProtFeatures for ACVR1_CCDC148


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACVR1

Q04771

CCDC148

Q8NFR7

On ligand binding, forms a receptor complex consistingof two type II and two type I transmembrane serine/threoninekinases. Type II receptors phosphorylate and activate type Ireceptors which autophosphorylate, then bind and activate SMADtranscriptional regulators. Receptor for activin. May be involvedfor left-right pattern formation during embryogenesis (Bysimilarity). {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 ACVR1_CCDC148


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 ACVR1_CCDC148


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
ACVR1FNTA, BMPR2, GDF5, ENG, BMP7, SMAD5, SMAD1, ACVR1B, TGFBR2, TSC22D1, IGSF1, SMURF1, BAMBI, SMAD6, SMAD7, PEG10, INHBA, ACVR2A, BMPR1A, ACVR1, USP15, ACVRL1, TGFBRAP1, GRAMD1A, MED16, RNF149, ARV1, OTUB1, LRRIQ1, TNFRSF10A, MRAP2, CD320CCDC148SAT1, USHBP1, SCGB1D1, LTF, SCGB2A1, LACRT, TEX9, IGHA1


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 ACVR1_CCDC148


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 ACVR1_CCDC148


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACVR1C0017638Glioma3CTD_human
HgeneACVR1C0016037Fibrodysplasia Ossificans Progressiva2ORPHANET;UNIPROT
HgeneACVR1C0004114Astrocytoma1CTD_human
HgeneACVR1C0242488Acute Lung Injury1CTD_human
HgeneACVR1C1458155Mammary Neoplasms1CTD_human