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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: 27095

FusionGeneSummary for PICALM_CPQ

check button Fusion gene summary
Fusion gene informationFusion gene name: PICALM_CPQ
Fusion gene ID: 27095
HgeneTgene
Gene symbol

PICALM

CPQ

Gene ID

8301

10404

Gene namephosphatidylinositol binding clathrin assembly proteincarboxypeptidase Q
SynonymsCALM|CLTH|LAPLDP|PGCP
Cytomap

11q14.2

8q22.1

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol-binding clathrin assembly proteinclathrin assembly lymphoid myeloid leukemia proteincarboxypeptidase QSer-Met dipeptidaseaminopeptidaseblood plasma glutamate carboxypeptidaselysosomal dipeptidase
Modification date2018052320180523
UniProtAcc

Q13492

Q9Y646

Ensembl transtripts involved in fusion geneENST00000532317, ENST00000526033, 
ENST00000393346, ENST00000528398, 
ENST00000356360, ENST00000528411, 
ENST00000220763, ENST00000529551, 
Fusion gene scores* DoF score10 X 10 X 5=5009 X 7 X 8=504
# samples 159
** MAII scorelog2(15/500*10)=-1.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/504*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PICALM [Title/Abstract] AND CPQ [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
HgenePICALM

GO:0006898

receptor-mediated endocytosis

10436022

HgenePICALM

GO:0032880

regulation of protein localization

10436022

HgenePICALM

GO:0045893

positive regulation of transcription, DNA-templated

11425879

HgenePICALM

GO:0048261

negative regulation of receptor-mediated endocytosis

10436022

TgeneCPQ

GO:0006508

proteolysis

10206990

TgeneCPQ

GO:0043171

peptide catabolic process

10206990


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
ChiTaRS3.1CF125182PICALMchr11

85669998

-CPQchr8

98078317

+
* 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-3CDSENST00000532317ENST00000220763PICALMchr11

85669998

-CPQchr8

98078317

+
intron-3UTRENST00000532317ENST00000529551PICALMchr11

85669998

-CPQchr8

98078317

+
intron-3CDSENST00000526033ENST00000220763PICALMchr11

85669998

-CPQchr8

98078317

+
intron-3UTRENST00000526033ENST00000529551PICALMchr11

85669998

-CPQchr8

98078317

+
intron-3CDSENST00000393346ENST00000220763PICALMchr11

85669998

-CPQchr8

98078317

+
intron-3UTRENST00000393346ENST00000529551PICALMchr11

85669998

-CPQchr8

98078317

+
intron-3CDSENST00000528398ENST00000220763PICALMchr11

85669998

-CPQchr8

98078317

+
intron-3UTRENST00000528398ENST00000529551PICALMchr11

85669998

-CPQchr8

98078317

+
intron-3CDSENST00000356360ENST00000220763PICALMchr11

85669998

-CPQchr8

98078317

+
intron-3UTRENST00000356360ENST00000529551PICALMchr11

85669998

-CPQchr8

98078317

+
intron-3CDSENST00000528411ENST00000220763PICALMchr11

85669998

-CPQchr8

98078317

+
intron-3UTRENST00000528411ENST00000529551PICALMchr11

85669998

-CPQchr8

98078317

+

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FusionProtFeatures for PICALM_CPQ


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

Q13492

CPQ

Q9Y646

Assembly protein recruiting clathrin and adapter proteincomplex 2 (AP2) to cell membranes at sites of coated-pit formationand clathrin-vesicle assembly. May be required to determine theamount of membrane to be recycled, possibly by regulating the sizeof the clathrin cage. Involved in AP2-dependent clathrin-mediatedendocytosis at the neuromuscular junction.{ECO:0000269|PubMed:10436022}. Carboxypeptidase that may play an important role in thehydrolysis of circulating peptides. Catalyzes the hydrolysis ofdipeptides with unsubstituted terminals into amino acids. May playa role in the liberation of thyroxine hormone from itsthyroglobulin (Tg) precursor.

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 PICALM_CPQ


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 PICALM_CPQ


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 PICALM_CPQ


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCPQQ9Y646DB00142Glutamic AcidCarboxypeptidase Qsmall moleculeapproved|nutraceutical

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RelatedDiseases for PICALM_CPQ


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePICALMC0002395Alzheimer's Disease2CTD_human
TgeneCPQC0007134Renal Cell Carcinoma1CTD_human
TgeneCPQC0023893Liver Cirrhosis, Experimental1CTD_human