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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: 33113

FusionGeneSummary for SEL1L3_CCKAR

check button Fusion gene summary
Fusion gene informationFusion gene name: SEL1L3_CCKAR
Fusion gene ID: 33113
HgeneTgene
Gene symbol

SEL1L3

CCKAR

Gene ID

23231

886

Gene nameSEL1L family member 3cholecystokinin A receptor
SynonymsSel-1L3CCK-A|CCK1-R|CCK1R|CCKRA
Cytomap

4p15.2

4p15.2

Type of geneprotein-codingprotein-coding
Descriptionprotein sel-1 homolog 3sel-1 suppressor of lin-12-like 3suppressor of lin-12-like protein 3cholecystokinin receptor type ACCK-A receptorCCK-ARcholecystokinin type-A receptorcholecystokinin-1 receptor
Modification date2018051920180523
UniProtAcc

Q68CR1

P32238

Ensembl transtripts involved in fusion geneENST00000399878, ENST00000264868, 
ENST00000502949, ENST00000513364, 
ENST00000295589, 
Fusion gene scores* DoF score3 X 3 X 3=271 X 1 X 1=1
# samples 31
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneCCKAR

GO:0038188

cholecystokinin signaling pathway

8503909


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
TCGARVSTADTCGA-VQ-A925-01ASEL1L3chr4

25759156

-CCKARchr4

26484905

-
* 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
Frame-shiftENST00000399878ENST00000295589SEL1L3chr4

25759156

-CCKARchr4

26484905

-
Frame-shiftENST00000264868ENST00000295589SEL1L3chr4

25759156

-CCKARchr4

26484905

-
In-frameENST00000502949ENST00000295589SEL1L3chr4

25759156

-CCKARchr4

26484905

-
intron-3CDSENST00000513364ENST00000295589SEL1L3chr4

25759156

-CCKARchr4

26484905

-

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FusionProtFeatures for SEL1L3_CCKAR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SEL1L3

Q68CR1

CCKAR

P32238

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.

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 SEL1L3_CCKAR


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.
>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


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
SEL1L3TUBB3, FBXO6, PLTP, SCGB1D1, LAMP3, FAM63ACCKARCCK


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 SEL1L3_CCKAR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCCKARP32238DB00403CeruletideCholecystokinin receptor type Asmall moleculeapproved
TgeneCCKARP32238DB08862CholecystokininCholecystokinin receptor type Asmall moleculeapproved|investigational

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RelatedDiseases for SEL1L3_CCKAR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCCKARC0001973Alcoholic Intoxication, Chronic6CTD_human;PSYGENET
TgeneCCKARC0036341Schizophrenia5PSYGENET
TgeneCCKARC0005586Bipolar Disorder1PSYGENET
TgeneCCKARC0016978gallbladder neoplasm1CTD_human
TgeneCCKARC0033975Psychotic Disorders1PSYGENET
TgeneCCKARC0036349Paranoid Schizophrenia1PSYGENET
TgeneCCKARC0041696Unipolar Depression1PSYGENET
TgeneCCKARC1269683Major Depressive Disorder1PSYGENET