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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: 27103

FusionGeneSummary for PICALM_TF

check button Fusion gene summary
Fusion gene informationFusion gene name: PICALM_TF
Fusion gene ID: 27103
HgeneTgene
Gene symbol

PICALM

TF

Gene ID

8301

7018

Gene namephosphatidylinositol binding clathrin assembly proteintransferrin
SynonymsCALM|CLTH|LAPHEL-S-71p|PRO1557|PRO2086|TFQTL1
Cytomap

11q14.2

3q22.1

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol-binding clathrin assembly proteinclathrin assembly lymphoid myeloid leukemia proteinserotransferrinbeta-1 metal-binding globulinepididymis secretory sperm binding protein Li 71psiderophilin
Modification date2018052320180523
UniProtAcc

Q13492

P02787

Ensembl transtripts involved in fusion geneENST00000532317, ENST00000526033, 
ENST00000393346, ENST00000528398, 
ENST00000356360, ENST00000528411, 
ENST00000402696, ENST00000264998, 
ENST00000475382, 
Fusion gene scores* DoF score10 X 10 X 5=5008 X 7 X 3=168
# samples 159
** MAII scorelog2(15/500*10)=-1.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/168*10)=-0.900464326449086
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PICALM [Title/Abstract] AND TF [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

TgeneTF

GO:0048260

positive regulation of receptor-mediated endocytosis

12704209


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
ChiTaRS3.1AI114794PICALMchr11

85700516

+TFchr3

133472515

+
ChiTaRS3.1AF118063PICALMchr11

85700516

+TFchr3

133472515

+
* 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-3CDSENST00000532317ENST00000402696PICALMchr11

85700516

+TFchr3

133472515

+
intron-5UTRENST00000532317ENST00000264998PICALMchr11

85700516

+TFchr3

133472515

+
intron-3UTRENST00000532317ENST00000475382PICALMchr11

85700516

+TFchr3

133472515

+
intron-3CDSENST00000526033ENST00000402696PICALMchr11

85700516

+TFchr3

133472515

+
intron-5UTRENST00000526033ENST00000264998PICALMchr11

85700516

+TFchr3

133472515

+
intron-3UTRENST00000526033ENST00000475382PICALMchr11

85700516

+TFchr3

133472515

+
intron-3CDSENST00000393346ENST00000402696PICALMchr11

85700516

+TFchr3

133472515

+
intron-5UTRENST00000393346ENST00000264998PICALMchr11

85700516

+TFchr3

133472515

+
intron-3UTRENST00000393346ENST00000475382PICALMchr11

85700516

+TFchr3

133472515

+
intron-3CDSENST00000528398ENST00000402696PICALMchr11

85700516

+TFchr3

133472515

+
intron-5UTRENST00000528398ENST00000264998PICALMchr11

85700516

+TFchr3

133472515

+
intron-3UTRENST00000528398ENST00000475382PICALMchr11

85700516

+TFchr3

133472515

+
intron-3CDSENST00000356360ENST00000402696PICALMchr11

85700516

+TFchr3

133472515

+
intron-5UTRENST00000356360ENST00000264998PICALMchr11

85700516

+TFchr3

133472515

+
intron-3UTRENST00000356360ENST00000475382PICALMchr11

85700516

+TFchr3

133472515

+
intron-3CDSENST00000528411ENST00000402696PICALMchr11

85700516

+TFchr3

133472515

+
intron-5UTRENST00000528411ENST00000264998PICALMchr11

85700516

+TFchr3

133472515

+
intron-3UTRENST00000528411ENST00000475382PICALMchr11

85700516

+TFchr3

133472515

+

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FusionProtFeatures for PICALM_TF


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

Q13492

TF

P02787

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}. Transferrins are iron binding transport proteins whichcan bind two Fe(3+) ions in association with the binding of ananion, usually bicarbonate. It is responsible for the transport ofiron from sites of absorption and heme degradation to those ofstorage and utilization. Serum transferrin may also have a furtherrole in stimulating cell proliferation.

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_TF


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_TF


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_TF


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneTFP02787DB00515CisplatinSerotransferrinsmall moleculeapproved
TgeneTFP02787DB01592IronSerotransferrinsmall moleculeapproved
TgeneTFP02787DB01370AluminiumSerotransferrinsmall moleculeapproved|investigational
TgeneTFP02787DB01593ZincSerotransferrinsmall moleculeapproved|investigational

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RelatedDiseases for PICALM_TF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePICALMC0002395Alzheimer's Disease2CTD_human
TgeneTFC0036341Schizophrenia3PSYGENET
TgeneTFC0521802Congenital atransferrinemia3CTD_human;HPO;ORPHANET;UNIPROT
TgeneTFC0001973Alcoholic Intoxication, Chronic2CTD_human
TgeneTFC0002395Alzheimer's Disease2CTD_human
TgeneTFC0015695Fatty Liver2CTD_human
TgeneTFC0024667Animal Mammary Neoplasms2CTD_human
TgeneTFC0024668Mammary Neoplasms, Experimental2CTD_human
TgeneTFC0004352Autistic Disorder1CTD_human
TgeneTFC0013502Echinococcosis1CTD_human
TgeneTFC0019158Hepatitis1CTD_human
TgeneTFC0021368Inflammation1CTD_human
TgeneTFC0027626Neoplasm Invasiveness1CTD_human
TgeneTFC0027726Nephrotic Syndrome1CTD_human
TgeneTFC0028754Obesity1CTD_human
TgeneTFC0030524Paratuberculosis1CTD_human
TgeneTFC0035258Restless Legs Syndrome1CTD_human
TgeneTFC0036337Schizoaffective Disorder1PSYGENET
TgeneTFC0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneTFC0271901Microcytic hypochromic anemia (disorder)1CTD_human
TgeneTFC0282193Iron Overload1CTD_human
TgeneTFC0345967Malignant mesothelioma1CTD_human
TgeneTFC4277682Chemical and Drug Induced Liver Injury1CTD_human