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Fusion gene ID: 7623 |
FusionGeneSummary for CMTM7_FLNA |
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Fusion gene information | Fusion gene name: CMTM7_FLNA | Fusion gene ID: 7623 | Hgene | Tgene | Gene symbol | CMTM7 | FLNA | Gene ID | 112616 | 2316 |
Gene name | CKLF like MARVEL transmembrane domain containing 7 | filamin A | |
Synonyms | CKLFSF7 | ABP-280|ABPX|CSBS|CVD1|FGS2|FLN|FLN-A|FLN1|FMD|MNS|NHBP|OPD|OPD1|OPD2|XLVD|XMVD | |
Cytomap | 3p22.3 | Xq28 | |
Type of gene | protein-coding | protein-coding | |
Description | CKLF-like MARVEL transmembrane domain-containing protein 7chemokine-like factor super family 7chemokine-like factor super family member 7 variant 2chemokine-like factor superfamily 7chemokine-like factor superfamily member 7 | filamin-Aactin binding protein 280alpha-filaminendothelial actin-binding proteinfilamin A, alphafilamin-1non-muscle filamin | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q96FZ5 | P21333 | |
Ensembl transtripts involved in fusion gene | ENST00000334983, ENST00000349718, | ENST00000360319, ENST00000422373, ENST00000369850, ENST00000369856, ENST00000344736, ENST00000498491, | |
Fusion gene scores | * DoF score | 7 X 4 X 5=140 | 13 X 18 X 3=702 |
# samples | 7 | 19 | |
** MAII score | log2(7/140*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(19/702*10)=-1.88547161197361 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: CMTM7 [Title/Abstract] AND FLNA [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | FLNA | GO:0016479 | negative regulation of transcription by RNA polymerase I | 22307607 |
Tgene | FLNA | GO:0030334 | regulation of cell migration | 16291724 |
Tgene | FLNA | GO:0031532 | actin cytoskeleton reorganization | 10051605 |
Tgene | FLNA | GO:0034394 | protein localization to cell surface | 18322202 |
Tgene | FLNA | GO:0043113 | receptor clustering | 10692483 |
Tgene | FLNA | GO:0043433 | negative regulation of DNA binding transcription factor activity | 15684392 |
Tgene | FLNA | GO:0044319 | wound healing, spreading of cells | 16291724 |
Tgene | FLNA | GO:0045184 | establishment of protein localization | 18322202 |
Tgene | FLNA | GO:0051764 | actin crosslink formation | 10051605 |
Tgene | FLNA | GO:0072659 | protein localization to plasma membrane | 24951510 |
Tgene | FLNA | GO:0090307 | mitotic spindle assembly | 18548008 |
Tgene | FLNA | GO:1901381 | positive regulation of potassium ion transmembrane transport | 24951510 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF094113 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
intron-3CDS | ENST00000334983 | ENST00000360319 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
intron-3CDS | ENST00000334983 | ENST00000422373 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
intron-3CDS | ENST00000334983 | ENST00000369850 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
intron-3CDS | ENST00000334983 | ENST00000369856 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
intron-3CDS | ENST00000334983 | ENST00000344736 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
intron-intron | ENST00000334983 | ENST00000498491 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
intron-3CDS | ENST00000349718 | ENST00000360319 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
intron-3CDS | ENST00000349718 | ENST00000422373 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
intron-3CDS | ENST00000349718 | ENST00000369850 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
intron-3CDS | ENST00000349718 | ENST00000369856 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
intron-3CDS | ENST00000349718 | ENST00000344736 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
intron-intron | ENST00000349718 | ENST00000498491 | CMTM7 | chr3 | 32475001 | - | FLNA | chrX | 153580770 | + |
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FusionProtFeatures for CMTM7_FLNA |
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Hgene | Tgene |
CMTM7 | FLNA |
Promotes orthogonal branching of actin filaments andlinks actin filaments to membrane glycoproteins. Anchors varioustransmembrane proteins to the actin cytoskeleton and serves as ascaffold for a wide range of cytoplasmic signaling proteins.Interaction with FLNA may allow neuroblast migration from theventricular zone into the cortical plate. Tethers cell surface-localized furin, modulates its rate of internalization and directsits intracellular trafficking (By similarity). Involved inciliogenesis. Plays a role in cell-cell contacts and adherensjunctions during the development of blood vessels, heart and brainorgans. Plays a role in platelets morphology through interactionwith SYK that regulates ITAM- and ITAM-like-containing receptorsignaling, resulting in by platelet cytoskeleton organizationmaintenance (By similarity). {ECO:0000250,ECO:0000250|UniProtKB:Q8BTM8, ECO:0000269|PubMed:22121117}. |
![]() * 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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FusionGeneSequence for CMTM7_FLNA |
![]() (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 CMTM7_FLNA |
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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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RelatedDrugs for CMTM7_FLNA |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | FLNA | P21333 | DB11638 | Artenimol | Filamin-A | small molecule | approved|investigational |
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RelatedDiseases for CMTM7_FLNA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | FLNA | C1848213 | Periventricular Heterotopia, X-Linked | 6 | UNIPROT |
Tgene | FLNA | C0265251 | Oto-Palato-digital syndrome type 1 | 4 | CTD_human;ORPHANET;UNIPROT |
Tgene | FLNA | C0265293 | Frontometaphyseal dysplasia | 4 | CTD_human;ORPHANET;UNIPROT |
Tgene | FLNA | C1844696 | OTOPALATODIGITAL SYNDROME, TYPE II | 4 | CTD_human;ORPHANET;UNIPROT |
Tgene | FLNA | C0025237 | Melnick-Needles Syndrome | 3 | ORPHANET;UNIPROT |
Tgene | FLNA | C1868720 | Periventricular Nodular Heterotopia | 2 | CTD_human;ORPHANET |
Tgene | FLNA | C0010701 | Phyllodes Tumor | 1 | CTD_human |
Tgene | FLNA | C0014544 | Epilepsy | 1 | CTD_human;HPO |
Tgene | FLNA | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | FLNA | C0029422 | Osteochondrodysplasias | 1 | CTD_human;HPO |
Tgene | FLNA | C0220769 | FG syndrome | 1 | CTD_human |
Tgene | FLNA | C0262436 | Cardiac valvular dysplasia, X-linked | 1 | CTD_human;UNIPROT |
Tgene | FLNA | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | FLNA | C1845235 | Heterotopia, Periventricular, Ehlers-Danlos Variant | 1 | CTD_human |
Tgene | FLNA | C1845902 | FG SYNDROME 2 | 1 | UNIPROT |