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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: 17697

FusionGeneSummary for IQSEC1_COMT

check button Fusion gene summary
Fusion gene informationFusion gene name: IQSEC1_COMT
Fusion gene ID: 17697
HgeneTgene
Gene symbol

IQSEC1

COMT

Gene ID

9922

1312

Gene nameIQ motif and Sec7 domain 1catechol-O-methyltransferase
SynonymsARF-GEP100|ARFGEP100|BRAG2|GEP100HEL-S-98n
Cytomap

3p25.2-p25.1

22q11.21

Type of geneprotein-codingprotein-coding
DescriptionIQ motif and SEC7 domain-containing protein 1ADP-ribosylation factors guanine nucleotide-exchange protein 100ADP-ribosylation factors guanine nucleotide-exchange protein 2brefeldin A-resistant ARF-GEF2brefeldin-resistant Arf-GEF 2 proteincatechol O-methyltransferasecatechol-O-methyltransferase isoformepididymis secretory sperm binding protein Li 98ntesticular tissue protein Li 42
Modification date2018051920180527
UniProtAcc

Q6DN90

P21964

Ensembl transtripts involved in fusion geneENST00000273221, ENST00000473088, 
ENST00000361682, ENST00000403184, 
ENST00000403710, ENST00000407537, 
ENST00000406520, ENST00000449653, 
ENST00000493893, 
Fusion gene scores* DoF score7 X 7 X 4=1965 X 4 X 4=80
# samples 75
** MAII scorelog2(7/196*10)=-1.48542682717024
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: IQSEC1 [Title/Abstract] AND COMT [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
TgeneCOMT

GO:0042424

catecholamine catabolic process

15645182|21846718


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
ChiTaRS3.1BG259212IQSEC1chr3

12942535

+COMTchr22

19946506

-
* 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-intronENST00000273221ENST00000361682IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000273221ENST00000403184IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000273221ENST00000403710IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000273221ENST00000407537IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000273221ENST00000406520IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000273221ENST00000449653IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000273221ENST00000493893IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000473088ENST00000361682IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000473088ENST00000403184IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000473088ENST00000403710IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000473088ENST00000407537IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000473088ENST00000406520IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000473088ENST00000449653IQSEC1chr3

12942535

+COMTchr22

19946506

-
intron-intronENST00000473088ENST00000493893IQSEC1chr3

12942535

+COMTchr22

19946506

-

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FusionProtFeatures for IQSEC1_COMT


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IQSEC1

Q6DN90

COMT

P21964

Guanine nucleotide exchange factor for ARF1 and ARF6(PubMed:24058294). Guanine nucleotide exchange factor activity isenhanced by lipid binding (PubMed:24058294). Accelerates GTPbinding by ARFs of all three classes. Guanine nucleotide exchangeprotein for ARF6, mediating internalisation of beta-1 integrin.{ECO:0000269|PubMed:11226253, ECO:0000269|PubMed:16461286,ECO:0000269|PubMed:24058294}. Catalyzes the O-methylation, and thereby theinactivation, of catecholamine neurotransmitters and catecholhormones. Also shortens the biological half-lives of certainneuroactive drugs, like L-DOPA, alpha-methyl DOPA andisoproterenol. {ECO:0000269|PubMed:21846718}.

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 IQSEC1_COMT


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 IQSEC1_COMT


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 IQSEC1_COMT


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCOMTP21964DB00494EntacaponeCatechol O-methyltransferasesmall moleculeapproved|investigational
TgeneCOMTP21964DB00118AdemetionineCatechol O-methyltransferasesmall moleculeapproved|investigational|nutraceutical
TgeneCOMTP21964DB00323TolcaponeCatechol O-methyltransferasesmall moleculeapproved|withdrawn

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RelatedDiseases for IQSEC1_COMT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOMTC0005586Bipolar Disorder6CTD_human;PSYGENET
TgeneCOMTC0001723Affective Disorders, Psychotic5PSYGENET
TgeneCOMTC0011570Mental Depression5PSYGENET
TgeneCOMTC0011581Depressive disorder5PSYGENET
TgeneCOMTC0041696Unipolar Depression5PSYGENET
TgeneCOMTC0525045Mood Disorders5PSYGENET
TgeneCOMTC1269683Major Depressive Disorder5PSYGENET
TgeneCOMTC0036341Schizophrenia4CTD_human
TgeneCOMTC0024809Marijuana Abuse3PSYGENET
TgeneCOMTC0600427Cocaine Dependence3PSYGENET
TgeneCOMTC1458155Mammary Neoplasms3CTD_human
TgeneCOMTC0005587Depression, Bipolar2PSYGENET
TgeneCOMTC0233477Dysphoric mood2PSYGENET
TgeneCOMTC3160814Cannabis use2PSYGENET
TgeneCOMTC0001973Alcoholic Intoxication, Chronic1CTD_human
TgeneCOMTC0004352Autistic Disorder1CTD_human
TgeneCOMTC0004936Mental disorders1CTD_human
TgeneCOMTC0009241Cognition Disorders1CTD_human
TgeneCOMTC0012236DiGeorge Syndrome1CTD_human;ORPHANET
TgeneCOMTC0015934Fetal Growth Retardation1CTD_human
TgeneCOMTC0024667Animal Mammary Neoplasms1CTD_human
TgeneCOMTC0026858Musculoskeletal Pain1CTD_human
TgeneCOMTC0030193Pain1CTD_human
TgeneCOMTC0031511Pheochromocytoma1CTD_human
TgeneCOMTC0033578Prostatic Neoplasms1CTD_human
TgeneCOMTC0039494Temporomandibular Joint Disorders1CTD_human
TgeneCOMTC0086133Depressive Syndrome1PSYGENET
TgeneCOMTC0178417Anhedonia1PSYGENET
TgeneCOMTC0236733Amphetamine-Related Disorders1CTD_human
TgeneCOMTC0236736Cocaine-Related Disorders1CTD_human
TgeneCOMTC1263846Attention deficit hyperactivity disorder1CTD_human;HPO
TgeneCOMTC1306067Drug-induced paranoid state1PSYGENET
TgeneCOMTC2239176Liver carcinoma1CTD_human
TgeneCOMTC2750088HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO1CTD_human