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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: 1276

FusionGeneSummary for AIMP1_CALM1

check button Fusion gene summary
Fusion gene informationFusion gene name: AIMP1_CALM1
Fusion gene ID: 1276
HgeneTgene
Gene symbol

AIMP1

CALM1

Gene ID

9255

801

Gene nameaminoacyl tRNA synthetase complex interacting multifunctional protein 1calmodulin 1
SynonymsEMAP2|EMAPII|HLD3|SCYE1|p43CALML2|CAMI|CPVT4|DD132|LQT14|PHKD|caM
Cytomap

4q24

14q32.11

Type of geneprotein-codingprotein-coding
Descriptionaminoacyl tRNA synthase complex-interacting multifunctional protein 1ARS-interacting multifunctional protein 1endothelial monocyte-activating polypeptide 2endothelial-monocyte activating polypeptide IImultisynthase complex auxiliary component p43multcalmodulin-1calmodulin 1 (phosphorylase kinase, delta)phosphorylase kinase subunit deltaphosphorylase kinase, delta subunitprepro-calmodulin 1
Modification date2018052320180529
UniProtAcc

Q12904

Ensembl transtripts involved in fusion geneENST00000442366, ENST00000358008, 
ENST00000394701, 		ENST00000356978, 
ENST00000447653, ENST00000555132, 
ENST00000553542, ENST00000544280, 
Fusion gene scores* DoF score1 X 1 X 1=18 X 10 X 1=80
# samples 111
** MAII scorelog2(1/1*10)=3.32192809488736log2(11/80*10)=0.459431618637297
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: AIMP1 [Title/Abstract] AND CALM1 [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
HgeneAIMP1

GO:0001937

negative regulation of endothelial cell proliferation

11741979

HgeneAIMP1

GO:0007267

cell-cell signaling

11741979

HgeneAIMP1

GO:0050900

leukocyte migration

11306575

TgeneCALM1

GO:0010880

regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum

20226167

TgeneCALM1

GO:0030801

positive regulation of cyclic nucleotide metabolic process

8631777

TgeneCALM1

GO:0032516

positive regulation of phosphoprotein phosphatase activity

8631777

TgeneCALM1

GO:0035307

positive regulation of protein dephosphorylation

8631777

TgeneCALM1

GO:0051343

positive regulation of cyclic-nucleotide phosphodiesterase activity

8631777

TgeneCALM1

GO:0051592

response to calcium ion

7607248

TgeneCALM1

GO:0060314

regulation of ryanodine-sensitive calcium-release channel activity

22067155

TgeneCALM1

GO:0060315

negative regulation of ryanodine-sensitive calcium-release channel activity

26164367

TgeneCALM1

GO:0060316

positive regulation of ryanodine-sensitive calcium-release channel activity

20226167


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
ChiTaRS3.1AA421615AIMP1chr4

107268733

-CALM1chr14

90871714

+
* 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
5CDS-3UTRENST00000442366ENST00000356978AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-intronENST00000442366ENST00000447653AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-intronENST00000442366ENST00000555132AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-intronENST00000442366ENST00000553542AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-intronENST00000442366ENST00000544280AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-3UTRENST00000358008ENST00000356978AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-intronENST00000358008ENST00000447653AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-intronENST00000358008ENST00000555132AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-intronENST00000358008ENST00000553542AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-intronENST00000358008ENST00000544280AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-3UTRENST00000394701ENST00000356978AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-intronENST00000394701ENST00000447653AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-intronENST00000394701ENST00000555132AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-intronENST00000394701ENST00000553542AIMP1chr4

107268733

-CALM1chr14

90871714

+
5CDS-intronENST00000394701ENST00000544280AIMP1chr4

107268733

-CALM1chr14

90871714

+

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FusionProtFeatures for AIMP1_CALM1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AIMP1

Q12904

CALM1

Non-catalytic component of the multisynthase complex.Stimulates the catalytic activity of cytoplasmic arginyl-tRNAsynthase (PubMed:10358004). Binds tRNA. Possesses inflammatorycytokine activity (PubMed:11306575). Negatively regulates TGF-betasignaling through stabilization of SMURF2 by binding to SMURF2 andinhibiting its SMAD7-mediated degradation (By similarity).Involved in glucose homeostasis through induction of glucagonsecretion at low glucose levels (By similarity). Promotes dermalfibroblast proliferation and wound repair (PubMed:16472771).Regulates KDELR1-mediated retention of HSP90B1/gp96 in theendoplasmic reticulum (By similarity). Plays a role inangiogenesis by inducing endothelial cell migration at lowconcentrations and endothelian cell apoptosis at highconcentrations (PubMed:12237313). Induces maturation of dendriticcells and monocyte cell adhesion (PubMed:11818442). Modulatesendothelial cell responses by degrading HIF-1A through interactionwith PSMA7 (PubMed:19362550). {ECO:0000250|UniProtKB:P31230,ECO:0000269|PubMed:10358004, ECO:0000269|PubMed:11157763,ECO:0000269|PubMed:11306575, ECO:0000269|PubMed:11818442,ECO:0000269|PubMed:12237313, ECO:0000269|PubMed:19362550}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 AIMP1_CALM1


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 AIMP1_CALM1


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 AIMP1_CALM1


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 AIMP1_CALM1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCALM1C3554047VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 42UNIPROT
TgeneCALM1C4015671LONG QT SYNDROME 142UNIPROT
TgeneCALM1C4015695LONG QT SYNDROME 152UNIPROT
TgeneCALM1C0002395Alzheimer's Disease1CTD_human
TgeneCALM1C0024809Marijuana Abuse1CTD_human
TgeneCALM1C0031391Phencyclidine Abuse1CTD_human
TgeneCALM1C0036341Schizophrenia1PSYGENET
TgeneCALM1C0043094Weight Gain1CTD_human
TgeneCALM1C0236736Cocaine-Related Disorders1CTD_human