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Fusion gene ID: 18553 |
FusionGeneSummary for KIAA0100_CRHR1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: KIAA0100_CRHR1 | Fusion gene ID: 18553 | Hgene | Tgene | Gene symbol | KIAA0100 | CRHR1 | Gene ID | 9703 | 1394 |
Gene name | KIAA0100 | corticotropin releasing hormone receptor 1 | |
Synonyms | BCOX|BCOX1|CT101|FMP27 | CRF-R|CRF-R-1|CRF-R1|CRF1|CRFR-1|CRFR1|CRH-R-1|CRH-R1|CRHR|CRHR1L | |
Cytomap | 17q11.2 | 17q21.31 | |
Type of gene | protein-coding | protein-coding | |
Description | protein KIAA0100U937-associated antigenantigen MLAA-22breast cancer overexpressed gene 1breast cancer-overexpressed gene 1 proteincancer/testis antigen 101 | corticotropin-releasing factor receptor 1CRH receptor 1corticotropin-releasing factor type 1 receptorseven transmembrane helix receptor | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q14667 | P34998 | |
Ensembl transtripts involved in fusion gene | ENST00000528896, ENST00000544884, ENST00000389003, ENST00000579924, | ENST00000293493, ENST00000339069, ENST00000314537, ENST00000352855, ENST00000577353, ENST00000398285, ENST00000548791, ENST00000551817, ENST00000550606, ENST00000552724, ENST00000547258, ENST00000551221, | |
Fusion gene scores | * DoF score | 9 X 8 X 5=360 | 2 X 2 X 2=8 |
# samples | 9 | 2 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | CRHR1 | GO:0007189 | adenylate cyclase-activating G-protein coupled receptor signaling pathway | 18292205 |
Tgene | CRHR1 | GO:0071376 | cellular response to corticotropin-releasing hormone stimulus | 18292205 |
Tgene | CRHR1 | GO:1901386 | negative regulation of voltage-gated calcium channel activity | 18292205 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | CESC | TCGA-VS-A8EJ-01A | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-5UTR | ENST00000528896 | ENST00000293493 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5CDS-5UTR | ENST00000528896 | ENST00000339069 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5CDS-5UTR | ENST00000528896 | ENST00000314537 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5CDS-5UTR | ENST00000528896 | ENST00000352855 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5CDS-5UTR | ENST00000528896 | ENST00000577353 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5CDS-5UTR | ENST00000528896 | ENST00000398285 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5CDS-intron | ENST00000528896 | ENST00000548791 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5CDS-intron | ENST00000528896 | ENST00000551817 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5CDS-intron | ENST00000528896 | ENST00000550606 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5CDS-intron | ENST00000528896 | ENST00000552724 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5CDS-intron | ENST00000528896 | ENST00000547258 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5CDS-intron | ENST00000528896 | ENST00000551221 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-5UTR | ENST00000544884 | ENST00000293493 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-5UTR | ENST00000544884 | ENST00000339069 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-5UTR | ENST00000544884 | ENST00000314537 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-5UTR | ENST00000544884 | ENST00000352855 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-5UTR | ENST00000544884 | ENST00000577353 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-5UTR | ENST00000544884 | ENST00000398285 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-intron | ENST00000544884 | ENST00000548791 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-intron | ENST00000544884 | ENST00000551817 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-intron | ENST00000544884 | ENST00000550606 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-intron | ENST00000544884 | ENST00000552724 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-intron | ENST00000544884 | ENST00000547258 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-intron | ENST00000544884 | ENST00000551221 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-5UTR | ENST00000389003 | ENST00000293493 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-5UTR | ENST00000389003 | ENST00000339069 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-5UTR | ENST00000389003 | ENST00000314537 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-5UTR | ENST00000389003 | ENST00000352855 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-5UTR | ENST00000389003 | ENST00000577353 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-5UTR | ENST00000389003 | ENST00000398285 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-intron | ENST00000389003 | ENST00000548791 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-intron | ENST00000389003 | ENST00000551817 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-intron | ENST00000389003 | ENST00000550606 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-intron | ENST00000389003 | ENST00000552724 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-intron | ENST00000389003 | ENST00000547258 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
5UTR-intron | ENST00000389003 | ENST00000551221 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
intron-5UTR | ENST00000579924 | ENST00000293493 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
intron-5UTR | ENST00000579924 | ENST00000339069 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
intron-5UTR | ENST00000579924 | ENST00000314537 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
intron-5UTR | ENST00000579924 | ENST00000352855 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
intron-5UTR | ENST00000579924 | ENST00000577353 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
intron-5UTR | ENST00000579924 | ENST00000398285 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
intron-intron | ENST00000579924 | ENST00000548791 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
intron-intron | ENST00000579924 | ENST00000551817 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
intron-intron | ENST00000579924 | ENST00000550606 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
intron-intron | ENST00000579924 | ENST00000552724 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
intron-intron | ENST00000579924 | ENST00000547258 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
intron-intron | ENST00000579924 | ENST00000551221 | KIAA0100 | chr17 | 26970628 | - | CRHR1 | chr17 | 43884376 | + |
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FusionProtFeatures for KIAA0100_CRHR1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
KIAA0100 | CRHR1 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for KIAA0100_CRHR1 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
KIAA0100 | REL, RNF126, DNAJC7, TEX28, PSMC4, DOCK5, TRIM25 | CRHR1 | UCN, CRH, GNAQ, GNAS, GNAO1, GNAI1, SRPK1 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for KIAA0100_CRHR1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for KIAA0100_CRHR1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | CRHR1 | C0001973 | Alcoholic Intoxication, Chronic | 5 | PSYGENET |
Tgene | CRHR1 | C0011570 | Mental Depression | 5 | PSYGENET |
Tgene | CRHR1 | C0011581 | Depressive disorder | 5 | PSYGENET |
Tgene | CRHR1 | C0041696 | Unipolar Depression | 5 | PSYGENET |
Tgene | CRHR1 | C0525045 | Mood Disorders | 5 | PSYGENET |
Tgene | CRHR1 | C1269683 | Major Depressive Disorder | 5 | CTD_human;PSYGENET |
Tgene | CRHR1 | C0005586 | Bipolar Disorder | 4 | PSYGENET |
Tgene | CRHR1 | C0003469 | Anxiety Disorders | 2 | CTD_human |
Tgene | CRHR1 | C0003123 | Anorexia | 1 | CTD_human |
Tgene | CRHR1 | C0011616 | Contact Dermatitis | 1 | CTD_human |
Tgene | CRHR1 | C0033975 | Psychotic Disorders | 1 | PSYGENET |
Tgene | CRHR1 | C0178417 | Anhedonia | 1 | PSYGENET |
Tgene | CRHR1 | C0236736 | Cocaine-Related Disorders | 1 | CTD_human |
Tgene | CRHR1 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
Tgene | CRHR1 | C0424295 | Hyperactive behavior | 1 | CTD_human |