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Fusion gene ID: 33113 |
FusionGeneSummary for SEL1L3_CCKAR |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SEL1L3_CCKAR | Fusion gene ID: 33113 | Hgene | Tgene | Gene symbol | SEL1L3 | CCKAR | Gene ID | 23231 | 886 |
| Gene name | SEL1L family member 3 | cholecystokinin A receptor | |
| Synonyms | Sel-1L3 | CCK-A|CCK1-R|CCK1R|CCKRA | |
| Cytomap | 4p15.2 | 4p15.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | protein sel-1 homolog 3sel-1 suppressor of lin-12-like 3suppressor of lin-12-like protein 3 | cholecystokinin receptor type ACCK-A receptorCCK-ARcholecystokinin type-A receptorcholecystokinin-1 receptor | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q68CR1 | P32238 | |
| Ensembl transtripts involved in fusion gene | ENST00000399878, ENST00000264868, ENST00000502949, ENST00000513364, | ENST00000295589, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: SEL1L3 [Title/Abstract] AND CCKAR [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 | CCKAR | GO:0038188 | cholecystokinin signaling pathway | 8503909 |
| 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 | RV | STAD | TCGA-VQ-A925-01A | SEL1L3 | chr4 | 25759156 | - | CCKAR | chr4 | 26484905 | - |
| * 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 |
| Frame-shift | ENST00000399878 | ENST00000295589 | SEL1L3 | chr4 | 25759156 | - | CCKAR | chr4 | 26484905 | - |
| Frame-shift | ENST00000264868 | ENST00000295589 | SEL1L3 | chr4 | 25759156 | - | CCKAR | chr4 | 26484905 | - |
| In-frame | ENST00000502949 | ENST00000295589 | SEL1L3 | chr4 | 25759156 | - | CCKAR | chr4 | 26484905 | - |
| intron-3CDS | ENST00000513364 | ENST00000295589 | SEL1L3 | chr4 | 25759156 | - | CCKAR | chr4 | 26484905 | - |
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FusionProtFeatures for SEL1L3_CCKAR |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SEL1L3 | CCKAR |
| Receptor for cholecystokinin. Mediates pancreatic growthand enzyme secretion, smooth muscle contraction of the gallbladder and stomach. Has a 1000-fold higher affinity for CCKrather than for gastrin. It modulates feeding and dopamine-inducedbehavior in the central and peripheral nervous system. Thisreceptor mediates its action by association with G proteins thatactivate a phosphatidylinositol-calcium second messenger system. |
| 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 SEL1L3_CCKAR |
| 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. |
| >In-frame_SEL1L3_ENST00000502949_chr4_25759156_-_CCKAR_ENST00000295589_chr4_26484905_-_220aa AHIPVTHPLSYSWNCDDGGIWINLFGTLPGNKIXGXPEEVCXRKETXHHQQRQIXGQRWVLPAKDQAPEEAGAPAAVHRQQQQGQPHPEX QLRSQPDGQEKGDPHAHRHRGPLLPVLDAHLQRQRLAGLRHRLRRAPPLRNPHFLHPPPVLHLLLRQPHHLLLHEQTLPPRLHGHLPLLP |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_SEL1L3_ENST00000502949_chr4_25759156_-_CCKAR_ENST00000295589_chr4_26484905_-_661nt GCACACATTCCTGTTACTCATCCTCTTTCTTATTCCTGGAATTGTGATGATGGTGGCATATGGATTAATCTCTTTGGAACTCTACCAGGG AATAAAATTTGAGGCTAGCCAGAAGAAGTCTGCTAAAGAAAGGAAACCTAGCACCACCAGCAGCGGCAAATATGAGGACAGCGATGGGTG TTACCTGCAAAAGACCAGGCCCCCGAGGAAGCTGGAGCTCCGGCAGCTGTCCACCGGCAGCAGCAGCAGGGCCAACCGCATCCGGAGTAA CAGCTCCGCAGCCAACCTGATGGCCAAGAAAAGGGTGATCCGCATGCTCATCGTCATCGTGGTCCTCTTCTTCCTGTGCTGGATGCCCAT CTTCAGCGCCAACGCCTGGCGGGCCTACGACACCGCCTCCGCAGAGCGCCGCCTCTCAGGAACCCCCATTTCCTTCATCCTCCTCCTGTC CTACACCTCCTCCTGCGTCAACCCCATCATCTACTGCTTCATGAACAAACGCTTCCGCCTCGGCTTCATGGCCACCTTCCCCTGCTGCCC CAATCCTGGTCCCCCAGGGGCGAGGGGAGAGGTGGGGGAGGAGGAGGAAGGCGGGACCACAGGAGCCTCTCTGTCCAGGTTCTCGTACAG |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_SEL1L3_ENST00000502949_chr4_25759156_-_CCKAR_ENST00000295589_chr4_26484905_-_4100nt CACACTCGCCCTGCGCCCTGCGGGAATGGCGCCCCGGCCAAAAAAGCAACCAGACAAAAACCCATTGCACGGGCGGGAACTGGTCTGTGC GACCCGCAAAAGGGAATGTTGTACCATCTTTGGGTAGGCAGACTTCCCTGACGACATCAGTGATACCCAAAGCTGAGCAGAGCGTGGCTT ACAAAGACTTTATTTATTTTACTGTCTTTGAAGGAAACGTTCGCAACGTTTCTGAAGTCTCGGTTGAGTATTTATGCTCTCAGCCTTGTG TTGTCAATTTGGAAGCAGTTGTTTCATCTGAGTTCAGAAGTAGCATTCCCGTGTACAAAAAAAGGTGGAAGAATGAGAAACATCTTCACA CCAGCAGGACACAAATAGTACATGTGAAATTTCCAAGCATTATGGTTTACAGAGATGATTATTTCATCAGACATTCCATCTCTGTATCTG CAGTGATAGTACGCGCCTGGATTACTCACAAATACAGTGGCAGAGACTGGAATGTTAAATGGGAGGAAAACTTGCTCCATGCTGTAGCAA AGAATTATACCCTCCTGCAGACCATCCCGCCTTTTGAACGCCCTTTCAAAGATCATCAAGTGTGCCTTGAGTGGAACATGGGTTATATTT GGAACCTTCGGGCAAACAGGATTCCACAGTGTCCTCTGGAAAATGATGTGGTTGCCCTGCTTGGCTTTCCTTATGCCTCCAGTGGAGAAA ACACAGGCATTGTCAAGAAGTTCCCGAGGTTTCGGAACCGAGAGCTGGAGGCCACTCGACGCCAGAGGATGGATTACCCAGTGTTTACTG TTTCATTGTGGCTTTATTTACTCCATTATTGCAAGGCCAACCTCTGTGGGATTCTGTACTTTGTTGACTCTAATGAGATGTACGGCACAC CTTCTGTATTTCTTACGGAAGAGGGCTATTTGCATATTCAGATGCATCTTGTCAAAGGGGAAGACCTTGCTGTAAAAACTAAATTCATCA TACCTTTGAAGGAGTGGTTTCGACTGGATATCTCTTTTAACGGAGGCCAGATAGTAGTAACCACTAGCATTGGACAGGATTTGAAAAGCT ACCACAATCAGACCATTAGCTTCCGGGAGGATTTCCATTATAATGACACAGCTGGGTACTTCATTATTGGAGGGAGCAGGTATGTGGCTG GCATTGAAGGGTTTTTTGGACCCCTGAAGTACTATCGCCTTCGCAGTCTGCACCCCGCCCAGATTTTTAATCCCCTCCTTGAGAAGCAAC TTGCTGAACAAATCAAGTTATATTATGAAAGGTGTGCTGAGGTTCAAGAAATAGTATCTGTGTATGCATCTGCAGCAAAGCACGGGGGCG AGAGACAAGAAGCATGCCACCTCCACAACTCCTACCTGGACCTCCAGCGCAGGTATGGGAGACCCTCGATGTGCAGAGCCTTCCCCTGGG AGAAGGAGCTGAAAGACAAACACCCCAGCTTGTTCCAGGCATTGCTGGAGATGGATCTGCTGACCGTGCCAAGGAACCAAAATGAATCTG TATCAGAAATCGGTGGGAAGATATTTGAGAAGGCTGTAAAGAGACTCTCTAGCATTGATGGTCTTCACCAAATTAGCTCTATCGTCCCCT TTCTGACGGATTCCAGCTGCTGTGGATACCATAAAGCATCCTACTACCTTGCAGTCTTTTATGAGACTGGATTAAATGTTCCTCGGGATC AGCTGCAGGGCATGTTGTATAGTTTGGTTGGAGGCCAGGGGAGTGAGAGGCTGTCTTCAATGAATCTTGGGTATAAACACTACCAGGGTA TTGACAACTACCCCCTGGACTGGGAACTGTCGTATGCCTACTACAGCAACATTGCCACCAAGACACCCCTTGACCAGCACACACTGCAAG GAGATCAGGCATATGTTGAAACAATTAGACTAAAAGATGATGAAATACTCAAGGTACAAACCAAAGAAGATGGAGATGTCTTTATGTGGT TGAAGCATGAAGCTACCCGAGGCAATGCAGCAGCTCAGCAACGATTGGCCCAGATGCTGTTCTGGGGGCAGCAAGGTGTGGCCAAGAATC CCGAAGCAGCAATTGAGTGGTACGCCAAGGGCGCCCTGGAGACGGAGGATCCTGCGTTAATCTATGACTATGCCATTGTGCTATTCAAGG GTCAAGGAGTAAAAAAGAACAGACGGCTTGCCTTAGAGCTGATGAAGAAAGCAGCTTCCAAGGGATTGCATCAGGCAGTCAATGGCCTGG GATGGTATTACCACAAATTCAAGAAAAATTACGCCAAAGCAGCAAAGTACTGGTTAAAAGCAGAAGAAATGGGGAACCCAGATGCGTCAT ACAATCTTGGAGTCCTGCATTTGGATGGCATCTTCCCTGGAGTTCCTGGAAGGAATCAAACTTTAGCTGGTGAATATTTCCATAAGGCTG CGCAAGGTGGACACATGGAAGGGACCTTGTGGTGTTCTCTCTACTATATCACAGGCAACCTGGAGACATTCCCTAGAGATCCTGAGAAAG CTGTTGTATGGGCAAAACATGTAGCTGAGAAAAATGGCTACTTGGGCCATGTCATCCGCAAAGGCCTCAATGCCTACCTGGAAGGTTCAT GGCATGAAGCTTTGCTGTATTATGTTTTAGCAGCAGAAACTGGAATTGAAGTGTCACAGACAAATTTAGCACACATCTGTGAGGAGAGGC CAGACCTGGCCAGGAGATACTTGGGTGTTAACTGTGTTTGGAGATACTATAATTTCTCTGTTTTTCAAATCGATGCTCCTTCCTTTGCAT ATTTGAAGATGGGAGACCTTTACTACTATGGCCACCAAAACCAGTCACAAGACCTGGAGTTGTCTGTGCAGATGTACGCCCAAGCCGCCC TGGATGGAGACTCCCAGGGATTTTTTAACCTGGCCCTGCTAATCGAGGAAGGTACGATAATCCCACACCATATCTTGGATTTCTTGGAAA TTGACTCAACTCTCCATTCTAATAACATCTCCATTCTCCAGGAACTGTACGAAAGGTGCTGGAGCCACAGTAACGAGGAGTCCTTCAGCC CCTGCTCCTTGGCCTGGCTTTACCTGCACTTGCGGCTTCTCTGGGGTGCTATCCTGCACTCAGCCCTGATCTACTTTCTGGGAACCTTTC TGCTATCCATATTGATCGCCTGGACTGTGCAGTATTTCCAGTCTGTCTCAGGCACACATTCCTGTTACTCATCCTCTTTCTTATTCCTGG AATTGTGATGATGGTGGCATATGGATTAATCTCTTTGGAACTCTACCAGGGAATAAAATTTGAGGCTAGCCAGAAGAAGTCTGCTAAAGA AAGGAAACCTAGCACCACCAGCAGCGGCAAATATGAGGACAGCGATGGGTGTTACCTGCAAAAGACCAGGCCCCCGAGGAAGCTGGAGCT CCGGCAGCTGTCCACCGGCAGCAGCAGCAGGGCCAACCGCATCCGGAGTAACAGCTCCGCAGCCAACCTGATGGCCAAGAAAAGGGTGAT CCGCATGCTCATCGTCATCGTGGTCCTCTTCTTCCTGTGCTGGATGCCCATCTTCAGCGCCAACGCCTGGCGGGCCTACGACACCGCCTC CGCAGAGCGCCGCCTCTCAGGAACCCCCATTTCCTTCATCCTCCTCCTGTCCTACACCTCCTCCTGCGTCAACCCCATCATCTACTGCTT CATGAACAAACGCTTCCGCCTCGGCTTCATGGCCACCTTCCCCTGCTGCCCCAATCCTGGTCCCCCAGGGGCGAGGGGAGAGGTGGGGGA GGAGGAGGAAGGCGGGACCACAGGAGCCTCTCTGTCCAGGTTCTCGTACAGCCATATGAGTGCCTCGGTGCCACCCCAGTGAGATGTCCC CTGACCCTCCACCGCAGAAGGAAGGCAGGGAGGAGGCAGAGAAGAAAGAACGGAAGAAGAGATCAGGAAGAGAAGGAGCAGAGCTGATGG AGAAGGAAGGCTCCATCTCCAGTGGGAACTCTTCAAGGTCTGCTTTTCATCCTTCATCTGGATTCCAGAGCACTGCTCCAGTGGGGCCAT |
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FusionGenePPI for SEL1L3_CCKAR |
| 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 |
| SEL1L3 | TUBB3, FBXO6, PLTP, SCGB1D1, LAMP3, FAM63A | CCKAR | CCK |
| - 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 SEL1L3_CCKAR |
| 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 |
| Tgene | CCKAR | P32238 | DB00403 | Ceruletide | Cholecystokinin receptor type A | small molecule | approved |
| Tgene | CCKAR | P32238 | DB08862 | Cholecystokinin | Cholecystokinin receptor type A | small molecule | approved|investigational |
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RelatedDiseases for SEL1L3_CCKAR |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CCKAR | C0001973 | Alcoholic Intoxication, Chronic | 6 | CTD_human;PSYGENET |
| Tgene | CCKAR | C0036341 | Schizophrenia | 5 | PSYGENET |
| Tgene | CCKAR | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | CCKAR | C0016978 | gallbladder neoplasm | 1 | CTD_human |
| Tgene | CCKAR | C0033975 | Psychotic Disorders | 1 | PSYGENET |
| Tgene | CCKAR | C0036349 | Paranoid Schizophrenia | 1 | PSYGENET |
| Tgene | CCKAR | C0041696 | Unipolar Depression | 1 | PSYGENET |
| Tgene | CCKAR | C1269683 | Major Depressive Disorder | 1 | PSYGENET |
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