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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: 18553

FusionGeneSummary for KIAA0100_CRHR1

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA0100_CRHR1
Fusion gene ID: 18553
HgeneTgene
Gene symbol

KIAA0100

CRHR1

Gene ID

9703

1394

Gene nameKIAA0100corticotropin releasing hormone receptor 1
SynonymsBCOX|BCOX1|CT101|FMP27CRF-R|CRF-R-1|CRF-R1|CRF1|CRFR-1|CRFR1|CRH-R-1|CRH-R1|CRHR|CRHR1L
Cytomap

17q11.2

17q21.31

Type of geneprotein-codingprotein-coding
Descriptionprotein KIAA0100U937-associated antigenantigen MLAA-22breast cancer overexpressed gene 1breast cancer-overexpressed gene 1 proteincancer/testis antigen 101corticotropin-releasing factor receptor 1CRH receptor 1corticotropin-releasing factor type 1 receptorseven transmembrane helix receptor
Modification date2018051920180523
UniProtAcc

Q14667

P34998

Ensembl transtripts involved in fusion geneENST00000528896, ENST00000544884, 
ENST00000389003, ENST00000579924, 
ENST00000293493, ENST00000339069, 
ENST00000314537, ENST00000352855, 
ENST00000577353, ENST00000398285, 
ENST00000548791, ENST00000551817, 
ENST00000550606, ENST00000552724, 
ENST00000547258, ENST00000551221, 
Fusion gene scores* DoF score9 X 8 X 5=3602 X 2 X 2=8
# samples 92
** MAII scorelog2(9/360*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: KIAA0100 [Title/Abstract] AND CRHR1 [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
TgeneCRHR1

GO:0007189

adenylate cyclase-activating G-protein coupled receptor signaling pathway

18292205

TgeneCRHR1

GO:0071376

cellular response to corticotropin-releasing hormone stimulus

18292205

TgeneCRHR1

GO:1901386

negative regulation of voltage-gated calcium channel activity

18292205


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
TCGALDCESCTCGA-VS-A8EJ-01AKIAA0100chr17

26970628

-CRHR1chr17

43884376

+
* 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-5UTRENST00000528896ENST00000293493KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5CDS-5UTRENST00000528896ENST00000339069KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5CDS-5UTRENST00000528896ENST00000314537KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5CDS-5UTRENST00000528896ENST00000352855KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5CDS-5UTRENST00000528896ENST00000577353KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5CDS-5UTRENST00000528896ENST00000398285KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5CDS-intronENST00000528896ENST00000548791KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5CDS-intronENST00000528896ENST00000551817KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5CDS-intronENST00000528896ENST00000550606KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5CDS-intronENST00000528896ENST00000552724KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5CDS-intronENST00000528896ENST00000547258KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5CDS-intronENST00000528896ENST00000551221KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-5UTRENST00000544884ENST00000293493KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-5UTRENST00000544884ENST00000339069KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-5UTRENST00000544884ENST00000314537KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-5UTRENST00000544884ENST00000352855KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-5UTRENST00000544884ENST00000577353KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-5UTRENST00000544884ENST00000398285KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-intronENST00000544884ENST00000548791KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-intronENST00000544884ENST00000551817KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-intronENST00000544884ENST00000550606KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-intronENST00000544884ENST00000552724KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-intronENST00000544884ENST00000547258KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-intronENST00000544884ENST00000551221KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-5UTRENST00000389003ENST00000293493KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-5UTRENST00000389003ENST00000339069KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-5UTRENST00000389003ENST00000314537KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-5UTRENST00000389003ENST00000352855KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-5UTRENST00000389003ENST00000577353KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-5UTRENST00000389003ENST00000398285KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-intronENST00000389003ENST00000548791KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-intronENST00000389003ENST00000551817KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-intronENST00000389003ENST00000550606KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-intronENST00000389003ENST00000552724KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-intronENST00000389003ENST00000547258KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
5UTR-intronENST00000389003ENST00000551221KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
intron-5UTRENST00000579924ENST00000293493KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
intron-5UTRENST00000579924ENST00000339069KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
intron-5UTRENST00000579924ENST00000314537KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
intron-5UTRENST00000579924ENST00000352855KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
intron-5UTRENST00000579924ENST00000577353KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
intron-5UTRENST00000579924ENST00000398285KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
intron-intronENST00000579924ENST00000548791KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
intron-intronENST00000579924ENST00000551817KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
intron-intronENST00000579924ENST00000550606KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
intron-intronENST00000579924ENST00000552724KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
intron-intronENST00000579924ENST00000547258KIAA0100chr17

26970628

-CRHR1chr17

43884376

+
intron-intronENST00000579924ENST00000551221KIAA0100chr17

26970628

-CRHR1chr17

43884376

+

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FusionProtFeatures for KIAA0100_CRHR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA0100

Q14667

CRHR1

P34998

May be involved in membrane trafficking.{ECO:0000250|UniProtKB:K7VLR4}. G-protein coupled receptor for CRH (corticotropin-releasing factor) and UCN (urocortin). Has high affinity for CRHand UCN. Ligand binding causes a conformation change that triggerssignaling via guanine nucleotide-binding proteins (G proteins) anddown-stream effectors, such as adenylate cyclase. Promotes theactivation of adenylate cyclase, leading to increasedintracellular cAMP levels. Inhibits the activity of the calciumchannel CACNA1H. Required for normal embryonic development of theadrenal gland and for normal hormonal responses to stress. Plays arole in the response to anxiogenic stimuli.{ECO:0000269|PubMed:18292205, ECO:0000269|PubMed:18801728,ECO:0000269|PubMed:23576434, ECO:0000269|PubMed:23863939}.

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 KIAA0100_CRHR1


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 KIAA0100_CRHR1


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
KIAA0100REL, RNF126, DNAJC7, TEX28, PSMC4, DOCK5, TRIM25CRHR1UCN, CRH, GNAQ, GNAS, GNAO1, GNAI1, SRPK1


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 KIAA0100_CRHR1


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 KIAA0100_CRHR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCRHR1C0001973Alcoholic Intoxication, Chronic5PSYGENET
TgeneCRHR1C0011570Mental Depression5PSYGENET
TgeneCRHR1C0011581Depressive disorder5PSYGENET
TgeneCRHR1C0041696Unipolar Depression5PSYGENET
TgeneCRHR1C0525045Mood Disorders5PSYGENET
TgeneCRHR1C1269683Major Depressive Disorder5CTD_human;PSYGENET
TgeneCRHR1C0005586Bipolar Disorder4PSYGENET
TgeneCRHR1C0003469Anxiety Disorders2CTD_human
TgeneCRHR1C0003123Anorexia1CTD_human
TgeneCRHR1C0011616Contact Dermatitis1CTD_human
TgeneCRHR1C0033975Psychotic Disorders1PSYGENET
TgeneCRHR1C0178417Anhedonia1PSYGENET
TgeneCRHR1C0236736Cocaine-Related Disorders1CTD_human
TgeneCRHR1C0349204Nonorganic psychosis1PSYGENET
TgeneCRHR1C0424295Hyperactive behavior1CTD_human