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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:FAM208B-PICALM (FusionGDB2 ID:HG54906TG8301) |
Fusion Gene Summary for FAM208B-PICALM |
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Fusion gene information | Fusion gene name: FAM208B-PICALM | Fusion gene ID: hg54906tg8301 | Hgene | Tgene | Gene symbol | FAM208B | PICALM | Gene ID | 54906 | 8301 |
Gene name | transcription activation suppressor family member 2 | phosphatidylinositol binding clathrin assembly protein | |
Synonyms | C10orf18|FAM208B|bA318E3.2 | CALM|CLTH|LAP | |
Cytomap | ('FAM208B')('PICALM') 10p15.1 | 11q14.2 | |
Type of gene | protein-coding | protein-coding | |
Description | protein TASOR 2family with sequence similarity 208 member Bprotein FAM208B | phosphatidylinositol-binding clathrin assembly proteinclathrin assembly lymphoid myeloid leukemia protein | |
Modification date | 20200313 | 20200322 | |
UniProtAcc | . | Q13492 | |
Ensembl transtripts involved in fusion gene | ENST00000328090, ENST00000463468, | ||
Fusion gene scores | * DoF score | 18 X 9 X 8=1296 | 35 X 26 X 12=10920 |
# samples | 23 | 44 | |
** MAII score | log2(23/1296*10)=-2.49435995194025 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(44/10920*10)=-4.63332552228256 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: FAM208B [Title/Abstract] AND PICALM [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | FAM208B(5727138)-PICALM(85742653), # 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | PICALM | GO:0006897 | endocytosis | 22118466 |
Tgene | PICALM | GO:0006898 | receptor-mediated endocytosis | 10436022 |
Tgene | PICALM | GO:0032880 | regulation of protein localization | 10436022 |
Tgene | PICALM | GO:0045893 | positive regulation of transcription, DNA-templated | 11425879 |
Tgene | PICALM | GO:0048261 | negative regulation of receptor-mediated endocytosis | 10436022 |
Tgene | PICALM | GO:1905224 | clathrin-coated pit assembly | 16262731 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-CD-A486-01A | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
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Fusion Gene ORF analysis for FAM208B-PICALM |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5UTR-3CDS | ENST00000328090 | ENST00000393346 | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
5UTR-3CDS | ENST00000328090 | ENST00000526033 | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
5UTR-3CDS | ENST00000328090 | ENST00000532317 | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
5UTR-5UTR | ENST00000328090 | ENST00000356360 | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
5UTR-5UTR | ENST00000328090 | ENST00000528398 | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
5UTR-5UTR | ENST00000328090 | ENST00000528411 | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
intron-3CDS | ENST00000463468 | ENST00000393346 | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
intron-3CDS | ENST00000463468 | ENST00000526033 | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
intron-3CDS | ENST00000463468 | ENST00000532317 | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
intron-5UTR | ENST00000463468 | ENST00000356360 | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
intron-5UTR | ENST00000463468 | ENST00000528398 | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
intron-5UTR | ENST00000463468 | ENST00000528411 | FAM208B | chr10 | 5727138 | + | PICALM | chr11 | 85742653 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for FAM208B-PICALM |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for FAM208B-PICALM |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:5727138/:85742653) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | PICALM |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: Cytoplasmic adapter protein that plays a critical role in clathrin-mediated endocytosis which is important in processes such as internalization of cell receptors, synaptic transmission or removal of apoptotic cells. Recruits AP-2 and attaches clathrin triskelions to the cytoplasmic side of plasma membrane leading to clathrin-coated vesicles (CCVs) assembly (PubMed:10436022, PubMed:16262731, PubMed:27574975). Furthermore, regulates clathrin-coated vesicle size and maturation by directly sensing and driving membrane curvature (PubMed:25898166). In addition to binding to clathrin, mediates the endocytosis of small R-SNARES (Soluble NSF Attachment Protein REceptors) between plasma membranes and endosomes including VAMP2, VAMP3, VAMP4, VAMP7 or VAMP8 (PubMed:22118466, PubMed:21808019, PubMed:23741335). In turn, PICALM-dependent SNARE endocytosis is required for the formation and maturation of autophagic precursors (PubMed:25241929). Modulates thereby autophagy and the turnover of autophagy substrates such as MAPT/TAU or amyloid precursor protein cleaved C-terminal fragment (APP-CTF) (PubMed:25241929, PubMed:24067654). {ECO:0000269|PubMed:10436022, ECO:0000269|PubMed:16262731, ECO:0000269|PubMed:21808019, ECO:0000269|PubMed:22118466, ECO:0000269|PubMed:23741335, ECO:0000269|PubMed:24067654, ECO:0000269|PubMed:25241929, ECO:0000269|PubMed:25898166, ECO:0000269|PubMed:27574975}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for FAM208B-PICALM |
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Fusion Gene PPI Analysis for FAM208B-PICALM |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for FAM208B-PICALM |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for FAM208B-PICALM |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C0002395 | Alzheimer's Disease | 2 | CTD_human | |
Tgene | C0011265 | Presenile dementia | 2 | CTD_human | |
Tgene | C0276496 | Familial Alzheimer Disease (FAD) | 2 | CTD_human | |
Tgene | C0494463 | Alzheimer Disease, Late Onset | 2 | CTD_human | |
Tgene | C0546126 | Acute Confusional Senile Dementia | 2 | CTD_human | |
Tgene | C0750900 | Alzheimer's Disease, Focal Onset | 2 | CTD_human | |
Tgene | C0750901 | Alzheimer Disease, Early Onset | 2 | CTD_human | |
Tgene | C0234985 | Mental deterioration | 1 | CTD_human | |
Tgene | C0338656 | Impaired cognition | 1 | CTD_human | |
Tgene | C1270972 | Mild cognitive disorder | 1 | CTD_human |