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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:PICALM-DIAPH1 (FusionGDB2 ID:64740)

Fusion Gene Summary for PICALM-DIAPH1

check button Fusion gene summary
Fusion gene informationFusion gene name: PICALM-DIAPH1
Fusion gene ID: 64740
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 date2020032220200313
UniProtAcc.

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 score24 X 29 X 9=626410 X 8 X 6=480
# samples 3910
** MAII scorelog2(39/6264*10)=-4.00553818354143
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/480*10)=-2.26303440583379
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]

Most frequent breakpointPICALM(85707931)-DIAPH1(140958702), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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:0006897

endocytosis

22118466

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

HgenePICALM

GO:1905224

clathrin-coated pit assembly

16262731


check buttonFusion gene breakpoints across PICALM (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across DIAPH1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAW992389PICALMchr11

85707931

-DIAPH1chr5

140958702

-


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Fusion Gene ORF analysis for PICALM-DIAPH1

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

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for PICALM-DIAPH1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for PICALM-DIAPH1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.DIAPH1

O60610

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerization (By similarity). Required for cytokinesis, and transcriptional activation of the serum response factor (By similarity). DFR proteins couple Rho and Src tyrosine kinase during signaling and the regulation of actin dynamics (By similarity). Functions as a scaffold protein for MAPRE1 and APC to stabilize microtubules and promote cell migration (By similarity). Has neurite outgrowth promoting activity. Acts in a Rho-dependent manner to recruit PFY1 to the membrane (By similarity). In hear cells, it may play a role in the regulation of actin polymerization in hair cells (PubMed:20937854, PubMed:21834987, PubMed:26912466). The MEMO1-RHOA-DIAPH1 signaling pathway plays an important role in ERBB2-dependent stabilization of microtubules at the cell cortex (PubMed:20937854, PubMed:21834987). It controls the localization of APC and CLASP2 to the cell membrane, via the regulation of GSK3B activity (PubMed:20937854, PubMed:21834987). In turn, membrane-bound APC allows the localization of the MACF1 to the cell membrane, which is required for microtubule capture and stabilization (PubMed:20937854, PubMed:21834987). Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape (PubMed:20937854, PubMed:21834987). Plays a role in brain development (PubMed:24781755). Also acts as an actin nucleation and elongation factor in the nucleus by promoting nuclear actin polymerization inside the nucleus to drive serum-dependent SRF-MRTFA activity (By similarity). {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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Fusion Gene Sequence for PICALM-DIAPH1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis 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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Related Drugs for PICALM-DIAPH1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for PICALM-DIAPH1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePICALMC0002395Alzheimer's Disease2CTD_human
HgenePICALMC0011265Presenile dementia2CTD_human
HgenePICALMC0276496Familial Alzheimer Disease (FAD)2CTD_human
HgenePICALMC0494463Alzheimer Disease, Late Onset2CTD_human
HgenePICALMC0546126Acute Confusional Senile Dementia2CTD_human
HgenePICALMC0750900Alzheimer's Disease, Focal Onset2CTD_human
HgenePICALMC0750901Alzheimer Disease, Early Onset2CTD_human
HgenePICALMC0234985Mental deterioration1CTD_human
HgenePICALMC0338656Impaired cognition1CTD_human
HgenePICALMC1270972Mild cognitive disorder1CTD_human
TgeneDIAPH1C1852282DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)10CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneDIAPH1C4225261SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME4CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneDIAPH1C0424605Developmental delay (disorder)1GENOMICS_ENGLAND
TgeneDIAPH1C0557874Global developmental delay1GENOMICS_ENGLAND
TgeneDIAPH1C1384666hearing impairment1GENOMICS_ENGLAND
TgeneDIAPH1C3714756Intellectual Disability1GENOMICS_ENGLAND