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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: 27097

FusionGeneSummary for PICALM_DIAPH1

check button Fusion gene summary
Fusion gene informationFusion gene name: PICALM_DIAPH1
Fusion gene ID: 27097
HgeneTgene
Gene symbol

PICALM

DIAPH1

Gene ID

8301

1729

Gene namephosphatidylinositol binding clathrin assembly proteindiaphanous related formin 1
SynonymsCALM|CLTH|LAPDFNA1|DIA1|DRF1|LFHL1|SCBMS|hDIA1
Cytomap

11q14.2

5q31.3

Type of geneprotein-codingprotein-coding
Descriptionphosphatidylinositol-binding clathrin assembly proteinclathrin assembly lymphoid myeloid leukemia proteinprotein diaphanous homolog 1
Modification date2018052320180527
UniProtAcc

Q13492

O60610

Ensembl transtripts involved in fusion geneENST00000532317, ENST00000526033, 
ENST00000393346, ENST00000528398, 
ENST00000356360, ENST00000528411, 
ENST00000389054, ENST00000520569, 
ENST00000253811, ENST00000398566, 
ENST00000398562, ENST00000398557, 
ENST00000389057, ENST00000518047, 
ENST00000494967, 
Fusion gene scores* DoF score10 X 10 X 5=5006 X 5 X 3=90
# samples 156
** MAII scorelog2(15/500*10)=-1.73696559416621
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PICALM [Title/Abstract] AND DIAPH1 [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


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
ChiTaRS3.1AW992389PICALMchr11

85707931

-DIAPH1chr5

140958702

-
* 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-3CDSENST00000532317ENST00000389054PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000532317ENST00000520569PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000532317ENST00000253811PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000532317ENST00000398566PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000532317ENST00000398562PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000532317ENST00000398557PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000532317ENST00000389057PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000532317ENST00000518047PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-intronENST00000532317ENST00000494967PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000526033ENST00000389054PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000526033ENST00000520569PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000526033ENST00000253811PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000526033ENST00000398566PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000526033ENST00000398562PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000526033ENST00000398557PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000526033ENST00000389057PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000526033ENST00000518047PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-intronENST00000526033ENST00000494967PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000393346ENST00000389054PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000393346ENST00000520569PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000393346ENST00000253811PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000393346ENST00000398566PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000393346ENST00000398562PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000393346ENST00000398557PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000393346ENST00000389057PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000393346ENST00000518047PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-intronENST00000393346ENST00000494967PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528398ENST00000389054PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528398ENST00000520569PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528398ENST00000253811PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528398ENST00000398566PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528398ENST00000398562PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528398ENST00000398557PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528398ENST00000389057PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528398ENST00000518047PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-intronENST00000528398ENST00000494967PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000356360ENST00000389054PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000356360ENST00000520569PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000356360ENST00000253811PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000356360ENST00000398566PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000356360ENST00000398562PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000356360ENST00000398557PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000356360ENST00000389057PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000356360ENST00000518047PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-intronENST00000356360ENST00000494967PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528411ENST00000389054PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528411ENST00000520569PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528411ENST00000253811PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528411ENST00000398566PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528411ENST00000398562PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528411ENST00000398557PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528411ENST00000389057PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-3CDSENST00000528411ENST00000518047PICALMchr11

85707931

-DIAPH1chr5

140958702

-
intron-intronENST00000528411ENST00000494967PICALMchr11

85707931

-DIAPH1chr5

140958702

-

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FusionProtFeatures for PICALM_DIAPH1


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

Q13492

DIAPH1

O60610

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}. Acts in a Rho-dependent manner to recruit PFY1 to themembrane. Required for the assembly of F-actin structures, such asactin cables and stress fibers. Nucleates actin filaments. Bindsto the barbed end of the actin filament and slows down actinpolymerization and depolymerization. Required for cytokinesis, andtranscriptional activation of the serum response factor. DFRproteins couple Rho and Src tyrosine kinase during signaling andthe regulation of actin dynamics. Functions as a scaffold proteinfor MAPRE1 and APC to stabilize microtubules and promote cellmigration (By similarity). Has neurite outgrowth promotingactivity (By similarity). In hear cells, it may play a role in theregulation of actin polymerization in hair cells. The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex. Itcontrols the localization of APC and CLASP2 to the cell membrane,via the regulation of GSK3B activity. In turn, membrane-bound APCallows the localization of the MACF1 to the cell membrane, whichis required for microtubule capture and stabilization. Plays arole in the regulation of cell morphology and cytoskeletalorganization. Required in the control of cell shape(PubMed:20937854, PubMed:21834987). Plays a role in braindevelopment (PubMed:24781755). {ECO:0000250|UniProtKB:O08808,ECO:0000269|PubMed:20937854, ECO:0000269|PubMed:21834987,ECO:0000269|PubMed:24781755, ECO:0000269|PubMed:26912466}.

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_DIAPH1


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_DIAPH1


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_DIAPH1


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

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RelatedDiseases for PICALM_DIAPH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePICALMC0002395Alzheimer's Disease2CTD_human