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Fusion gene ID: 14784 |
FusionGeneSummary for GMCL1_DYSF |
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Fusion gene information | Fusion gene name: GMCL1_DYSF | Fusion gene ID: 14784 | Hgene | Tgene | Gene symbol | GMCL1 | DYSF | Gene ID | 64395 | 8291 |
Gene name | germ cell-less, spermatogenesis associated 1 | dysferlin | |
Synonyms | BTBD13|GCL|GCL1|SPATA29 | FER1L1|LGMD2B|MMD1 | |
Cytomap | 2p13.3 | 2p13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | germ cell-less protein-like 1germ cell-less homolog 1spermatogenesis associated 29 | dysferlindystrophy-associated fer-1-like 1fer-1-like family member 1fer-1-like protein 1limb girdle muscular dystrophy 2B (autosomal recessive) | |
Modification date | 20180522 | 20180519 | |
UniProtAcc | Q96IK5 | O75923 | |
Ensembl transtripts involved in fusion gene | ENST00000282570, ENST00000468386, | ENST00000429174, ENST00000409762, ENST00000413539, ENST00000409582, ENST00000258104, ENST00000410020, ENST00000409744, ENST00000409651, ENST00000410041, ENST00000409366, ENST00000394120, ENST00000479049, | |
Fusion gene scores | * DoF score | 2 X 1 X 3=6 | 4 X 4 X 3=48 |
# samples | 3 | 5 | |
** MAII score | log2(3/6*10)=2.32192809488736 | log2(5/48*10)=0.0588936890535686 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: GMCL1 [Title/Abstract] AND DYSF [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 |
![]() (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 |
TCGA | RV | TGCT | TCGA-4K-AA1G-01A | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
* 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 |
Frame-shift | ENST00000282570 | ENST00000429174 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
Frame-shift | ENST00000282570 | ENST00000409762 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
Frame-shift | ENST00000282570 | ENST00000413539 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
Frame-shift | ENST00000282570 | ENST00000409582 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
Frame-shift | ENST00000282570 | ENST00000258104 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
Frame-shift | ENST00000282570 | ENST00000410020 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
Frame-shift | ENST00000282570 | ENST00000409744 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
Frame-shift | ENST00000282570 | ENST00000409651 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
Frame-shift | ENST00000282570 | ENST00000410041 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
Frame-shift | ENST00000282570 | ENST00000409366 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
Frame-shift | ENST00000282570 | ENST00000394120 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
5CDS-intron | ENST00000282570 | ENST00000479049 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
3UTR-3CDS | ENST00000468386 | ENST00000429174 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
3UTR-3CDS | ENST00000468386 | ENST00000409762 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
3UTR-3CDS | ENST00000468386 | ENST00000413539 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
3UTR-3CDS | ENST00000468386 | ENST00000409582 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
3UTR-3CDS | ENST00000468386 | ENST00000258104 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
3UTR-3CDS | ENST00000468386 | ENST00000410020 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
3UTR-3CDS | ENST00000468386 | ENST00000409744 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
3UTR-3CDS | ENST00000468386 | ENST00000409651 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
3UTR-3CDS | ENST00000468386 | ENST00000410041 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
3UTR-3CDS | ENST00000468386 | ENST00000409366 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
3UTR-3CDS | ENST00000468386 | ENST00000394120 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
3UTR-intron | ENST00000468386 | ENST00000479049 | GMCL1 | chr2 | 70057284 | + | DYSF | chr2 | 71708013 | + |
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FusionProtFeatures for GMCL1_DYSF |
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Hgene | Tgene |
GMCL1 | DYSF |
Possible function in spermatogenesis. Enhances thedegradation of MDM2 and increases the amount of p53 probably bymodulating the nucleocytoplasmic transport (By similarity).{ECO:0000250}. |
![]() * 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 GMCL1_DYSF |
![]() (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 GMCL1_DYSF |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
GMCL1 | EMD, ELAVL1, CUL3, GAGE12I, BYSL, C21orf2, CLK2, FKBP1B, FOSL2, GAGE1, GAGE5, KIFC3, KPNA2, MID1, MTRR, NUMA1, PAX4, PTPN7, STK3, TCEB3, SUMO1, XAGE2, TSSC4, TRIM13, TRIM38, KAT5, NEBL, GLRX3, MORF4L1, MID2, RAD54B, CHIC2, GAGE2E, SLC15A3, SYT17, QRICH1, PARP16, SHQ1, CCDC25, FAM63A, TRIM54, PBXIP1, GRAMD1A, ZNF250, GMCL1, GMCL1P1, MPPE1, APOL6, FAM167A, PARD6B, IL17F, CIB3, FRMD6, HYKK, SNX20, XAGE3, APLF, FOXR1, C5orf60, SUMO1P1, GAGE12B, MBIP, KLK7, JUP, IVL, HAL, TGM1, SBSN, A2ML1, SULT2B1, XIAP, CALML3, FLG, DSC2, GM2A, CPA4, POF1B, ALOX12B, SERPINA12, SERPINB13, PLBD1, ECM1, S100A14, KLK10, CAPNS2, TYMP, SUCO, P2RX1, SYT12, CLCC1, MBLAC2, NCOA4, TMX1, IL17RC, ETFB, CCKBR, RNASE7, CRYAB, S100A2 | DYSF | CAV3, HDAC6, HECW2, FAM65B, HNRNPD, FTSJ1, SGOL1 |
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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 GMCL1_DYSF |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for GMCL1_DYSF |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | DYSF | C1850808 | Miyoshi myopathy | 19 | CTD_human;ORPHANET;UNIPROT |
Tgene | DYSF | C1850889 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B | 8 | CTD_human;ORPHANET;UNIPROT |
Tgene | DYSF | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | DYSF | C3495559 | Juvenile arthritis | 1 | CTD_human |