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Fusion gene ID: 11568 |
FusionGeneSummary for EML6_SPTBN1 |
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Fusion gene information | Fusion gene name: EML6_SPTBN1 | Fusion gene ID: 11568 | Hgene | Tgene | Gene symbol | EML6 | SPTBN1 | Gene ID | 400954 | 6711 |
Gene name | echinoderm microtubule associated protein like 6 | spectrin beta, non-erythrocytic 1 | |
Synonyms | - | ELF|HEL102|SPTB2|betaSpII | |
Cytomap | 2p16.1 | 2p16.2 | |
Type of gene | protein-coding | protein-coding | |
Description | echinoderm microtubule-associated protein-like 6EMAP-6 | spectrin beta chain, non-erythrocytic 1beta-G spectrinbeta-II spectrinbeta-fodrinbeta-spectrin 2beta-spectrin IIbeta-spectrin non-erythrocytic 1embryonic liver beta-fodrinepididymis luminal protein 102fodrin beta chainspectrin beta chain, brain | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | Q6ZMW3 | Q01082 | |
Ensembl transtripts involved in fusion gene | ENST00000356458, ENST00000490828, | ENST00000356805, ENST00000333896, | |
Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 13 X 13 X 6=1014 |
# samples | 1 | 15 | |
** MAII score | log2(1/1*10)=3.32192809488736 | log2(15/1014*10)=-2.75702324650746 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: EML6 [Title/Abstract] AND SPTBN1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, in-frame but not retained their domain. Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain. |
* 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 | PCPG | TCGA-SR-A6MY-01A | EML6 | chr2 | 54952395 | + | SPTBN1 | chr2 | 54893052 | + |
* 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 |
In-frame | ENST00000356458 | ENST00000356805 | EML6 | chr2 | 54952395 | + | SPTBN1 | chr2 | 54893052 | + |
5CDS-intron | ENST00000356458 | ENST00000333896 | EML6 | chr2 | 54952395 | + | SPTBN1 | chr2 | 54893052 | + |
intron-3CDS | ENST00000490828 | ENST00000356805 | EML6 | chr2 | 54952395 | + | SPTBN1 | chr2 | 54893052 | + |
intron-intron | ENST00000490828 | ENST00000333896 | EML6 | chr2 | 54952395 | + | SPTBN1 | chr2 | 54893052 | + |
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FusionProtFeatures for EML6_SPTBN1 |
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Hgene | Tgene |
EML6 | SPTBN1 |
May modify the assembly dynamics of microtubules, suchthat microtubules are slightly longer, but more dynamic.{ECO:0000250}. | Fodrin, which seems to be involved in secretion,interacts with calmodulin in a calcium-dependent manner and isthus candidate for the calcium-dependent movement of thecytoskeleton at the membrane. |
![]() * 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 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 173_278 | -129 | 2156 | Domain | Calponin-homology (CH) 2 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 2197_2307 | -129 | 2156 | Domain | PH |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 54_158 | -129 | 2156 | Domain | Calponin-homology (CH) 1 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 2_275 | -129 | 2156 | Region | Note=Actin-binding |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 1063_1166 | -129 | 2156 | Repeat | Spectrin 8 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 1170_1258 | -129 | 2156 | Repeat | Spectrin 9 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 1276_1376 | -129 | 2156 | Repeat | Spectrin 10 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 1381_1482 | -129 | 2156 | Repeat | Spectrin 11 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 1486_1590 | -129 | 2156 | Repeat | Spectrin 12 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 1592_1696 | -129 | 2156 | Repeat | Spectrin 13 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 1698_1801 | -129 | 2156 | Repeat | Spectrin 14 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 1805_1907 | -129 | 2156 | Repeat | Spectrin 15 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 1914_2014 | -129 | 2156 | Repeat | Spectrin 16 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 2018_2097 | -129 | 2156 | Repeat | Spectrin 17 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 303_411 | -129 | 2156 | Repeat | Spectrin 1 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 423_525 | -129 | 2156 | Repeat | Spectrin 2 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 530_636 | -129 | 2156 | Repeat | Spectrin 3 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 639_742 | -129 | 2156 | Repeat | Spectrin 4 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 745_847 | -129 | 2156 | Repeat | Spectrin 5 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 850_952 | -129 | 2156 | Repeat | Spectrin 6 |
Tgene | >SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 957_1060 | -129 | 2156 | Repeat | Spectrin 7 |
- 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 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1355_1358 | 65 | 1959 | Compositional bias | Note=Poly-Lys |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1038_1077 | 65 | 1959 | Repeat | Note=WD 17 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 104_145 | 65 | 1959 | Repeat | Note=WD 2 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1080_1120 | 65 | 1959 | Repeat | Note=WD 18 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1191_1230 | 65 | 1959 | Repeat | Note=WD 19 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1236_1276 | 65 | 1959 | Repeat | Note=WD 20 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1412_1456 | 65 | 1959 | Repeat | Note=WD 21 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1460_1501 | 65 | 1959 | Repeat | Note=WD 22 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 148_187 | 65 | 1959 | Repeat | Note=WD 3 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1504_1543 | 65 | 1959 | Repeat | Note=WD 23 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1553_1591 | 65 | 1959 | Repeat | Note=WD 24 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1593_1638 | 65 | 1959 | Repeat | Note=WD 25 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1685_1724 | 65 | 1959 | Repeat | Note=WD 26 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1726_1767 | 65 | 1959 | Repeat | Note=WD 27 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1768_1807 | 65 | 1959 | Repeat | Note=WD 28 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1880_1919 | 65 | 1959 | Repeat | Note=WD 29 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 1925_1958 | 65 | 1959 | Repeat | Note=WD 30 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 195_233 | 65 | 1959 | Repeat | Note=WD 4 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 235_273 | 65 | 1959 | Repeat | Note=WD 5 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 280_321 | 65 | 1959 | Repeat | Note=WD 6 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 323_362 | 65 | 1959 | Repeat | Note=WD 7 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 364_403 | 65 | 1959 | Repeat | Note=WD 8 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 406_445 | 65 | 1959 | Repeat | Note=WD 9 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 561_601 | 65 | 1959 | Repeat | Note=WD 10 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 59_100 | 65 | 1959 | Repeat | Note=WD 1 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 725_766 | 65 | 1959 | Repeat | Note=WD 11 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 770_811 | 65 | 1959 | Repeat | Note=WD 12 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 814_853 | 65 | 1959 | Repeat | Note=WD 13 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 861_900 | 65 | 1959 | Repeat | Note=WD 14 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 901_940 | 65 | 1959 | Repeat | Note=WD 15 |
Hgene | >EML6 | chr2:54952395 | chr2:54893052 | ENST00000356458 | + | 1 | 41 | 996_1035 | 65 | 1959 | Repeat | Note=WD 16 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 173_278 | 2219 | 2365 | Domain | Calponin-homology (CH) 2 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 2197_2307 | 2219 | 2365 | Domain | PH |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 54_158 | 2219 | 2365 | Domain | Calponin-homology (CH) 1 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 2_275 | 2219 | 2365 | Region | Note=Actin-binding |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 1063_1166 | 2219 | 2365 | Repeat | Spectrin 8 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 1170_1258 | 2219 | 2365 | Repeat | Spectrin 9 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 1276_1376 | 2219 | 2365 | Repeat | Spectrin 10 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 1381_1482 | 2219 | 2365 | Repeat | Spectrin 11 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 1486_1590 | 2219 | 2365 | Repeat | Spectrin 12 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 1592_1696 | 2219 | 2365 | Repeat | Spectrin 13 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 1698_1801 | 2219 | 2365 | Repeat | Spectrin 14 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 1805_1907 | 2219 | 2365 | Repeat | Spectrin 15 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 1914_2014 | 2219 | 2365 | Repeat | Spectrin 16 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 2018_2097 | 2219 | 2365 | Repeat | Spectrin 17 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 303_411 | 2219 | 2365 | Repeat | Spectrin 1 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 423_525 | 2219 | 2365 | Repeat | Spectrin 2 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 530_636 | 2219 | 2365 | Repeat | Spectrin 3 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 639_742 | 2219 | 2365 | Repeat | Spectrin 4 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 745_847 | 2219 | 2365 | Repeat | Spectrin 5 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 850_952 | 2219 | 2365 | Repeat | Spectrin 6 |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 957_1060 | 2219 | 2365 | Repeat | Spectrin 7 |
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FusionGeneSequence for EML6_SPTBN1 |
![]() (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 EML6_SPTBN1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
EML6 | EGFR, TUBB3, TUBB2B | SPTBN1 | EPB41L3, DCTN1, NF2, GRIA2, CTNNA1, SNCA, PJA1, MAPK14, MEF2C, STAT1, PLCB1, PYGO1, PACSIN1, SREBF2, GRB2, PLEKHA5, APC, CEBPA, SRRM2, AGO3, CDC5L, DISC1, CEP63, TRAF3IP1, SH3BP5, TNIK, ARRB2, SIRT7, CUL3, CDK2, CUL1, COPS5, NEDD8, GRK5, CBL, UBASH3B, PIK3R2, SHC1, AP2M1, SPTAN1, RBM8A, NENF, RABL2A, CDH2, DDX19A, SOD1, PSMA7, TXN2, POU2F1, DBN1, PRKCDBP, HSPA5, ESR1, EIF4A3, MAGOH, SMURF1, FN1, SMAD9, ZNF512B, UBL4A, SMAD3, ANK1, TPM1, TGFBR1, SMAD2, SMAD4, MYBL2, SVIL, PAN2, KIAA0101, FBXO6, EIF2B2, MOB4, TNKS1BP1, RPA1, RPA2, RPA3, TUBG1, WEE1, HSPB1, UNK, NCAPD3, MCM5, NXF1, NTRK1, PTEN, EWSR1, HIST1H3E, ADD1, CAPZA2, FLNA, MYH9, MYO1C, PPP1CB, IQGAP1, PDLIM7, KATNA1, SYNPO, MAPRE1, LIMA1, ANLN, MYO5C, MYO19, MYO18A, SNW1, FBXW7, THAP3, SPTBN1, GLTSCR2, SEPT8, COPB1, ZNF251, STXBP1, GOLGA6L10, EIF3H, CDH1, PDP1, PPM1B, PTP4A2, STYXL1, CYLD, TRIM25, BRCA1, TES |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000333896 | + | 0 | 31 | 1563_2093 | -129 | 2156 | ANK2 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Tgene | SPTBN1 | chr2:54952395 | chr2:54893052 | ENST00000356805 | + | 32 | 36 | 1563_2093 | 2219 | 2365 | ANK2 |
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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 EML6_SPTBN1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | SPTBN1 | Q01082 | DB01373 | Calcium | Spectrin beta chain, non-erythrocytic 1 | small molecule | approved|nutraceutical |
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RelatedDiseases for EML6_SPTBN1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SPTBN1 | C0043094 | Weight Gain | 1 | CTD_human |