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Fusion Protein:RNF213-TBCD |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: RNF213-TBCD | FusionPDB ID: 74993 | FusionGDB2.0 ID: 74993 | Hgene | Tgene | Gene symbol | RNF213 | TBCD | Gene ID | 57674 | 6904 |
Gene name | ring finger protein 213 | tubulin folding cofactor D | |
Synonyms | ALO17|C17orf27|KIAA1618|MYMY2|MYSTR|NET57 | PEBAT|SSD-1|tfcD | |
Cytomap | 17q25.3 | 17q25.3 | |
Type of gene | protein-coding | protein-coding | |
Description | E3 ubiquitin-protein ligase RNF213ALK lymphoma oligomerization partner on chromosome 17RING-type E3 ubiquitin transferase RNF213mysterin | tubulin-specific chaperone Dbeta-tubulin cofactor D | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q63HN8 | . | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000336301, ENST00000508628, ENST00000582970, ENST00000319921, ENST00000456466, ENST00000427003, | ENST00000397466, ENST00000539345, ENST00000576691, ENST00000355528, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 34 X 32 X 16=17408 | 19 X 22 X 13=5434 |
# samples | 41 | 28 | |
** MAII score | log2(41/17408*10)=-5.40798274174489 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(28/5434*10)=-4.27851583327701 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: RNF213 [Title/Abstract] AND TBCD [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | RNF213(78237577)-TBCD(80828100), # samples:2 | ||
Anticipated loss of major functional domain due to fusion event. | RNF213-TBCD seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. RNF213-TBCD seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. RNF213-TBCD seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. RNF213-TBCD seems lost the major protein functional domain in Tgene partner, which is a cell metabolism gene due to the frame-shifted ORF. RNF213-TBCD seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. |
* 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 |
Hgene | RNF213 | GO:0016567 | protein ubiquitination | 21799892 |
Hgene | RNF213 | GO:0051260 | protein homooligomerization | 24658080|26126547 |
Hgene | RNF213 | GO:0051865 | protein autoubiquitination | 21799892 |
Tgene | TBCD | GO:0006457 | protein folding | 20740604 |
Tgene | TBCD | GO:0007021 | tubulin complex assembly | 28158450 |
Tgene | TBCD | GO:0007023 | post-chaperonin tubulin folding pathway | 11847227 |
Tgene | TBCD | GO:0031115 | negative regulation of microtubule polymerization | 10831612|20740604 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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 | SKCM | TCGA-XV-AAZV-01A | RNF213 | chr17 | 78237577 | - | TBCD | chr17 | 80828100 | + |
ChimerDB4 | SKCM | TCGA-XV-AAZV-01A | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + |
ChimerDB4 | SKCM | TCGA-XV-AAZV | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + |
ChimerDB4 | STAD | TCGA-D7-6822-01A | RNF213 | chr17 | 78319369 | + | TBCD | chr17 | 80714041 | + |
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Fusion ORF Analysis |
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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) |
ENST00000508628 | RNF213 | chr17 | 78237577 | + | ENST00000355528 | TBCD | chr17 | 80828099 | + | 2888 | 242 | 145 | 2502 | 785 |
ENST00000508628 | RNF213 | chr17 | 78237577 | + | ENST00000397466 | TBCD | chr17 | 80828099 | + | 1018 | 242 | 1002 | 58 | 314 |
ENST00000508628 | RNF213 | chr17 | 78237577 | + | ENST00000539345 | TBCD | chr17 | 80828099 | + | 2863 | 242 | 145 | 2616 | 823 |
ENST00000456466 | RNF213 | chr17 | 78237577 | + | ENST00000355528 | TBCD | chr17 | 80828099 | + | 2886 | 240 | 143 | 2500 | 785 |
ENST00000456466 | RNF213 | chr17 | 78237577 | + | ENST00000397466 | TBCD | chr17 | 80828099 | + | 1016 | 240 | 1000 | 56 | 314 |
ENST00000456466 | RNF213 | chr17 | 78237577 | + | ENST00000539345 | TBCD | chr17 | 80828099 | + | 2861 | 240 | 143 | 2614 | 823 |
ENST00000582970 | RNF213 | chr17 | 78237577 | + | ENST00000355528 | TBCD | chr17 | 80828099 | + | 2886 | 240 | 143 | 2500 | 785 |
ENST00000582970 | RNF213 | chr17 | 78237577 | + | ENST00000397466 | TBCD | chr17 | 80828099 | + | 1016 | 240 | 1000 | 56 | 314 |
ENST00000582970 | RNF213 | chr17 | 78237577 | + | ENST00000539345 | TBCD | chr17 | 80828099 | + | 2861 | 240 | 143 | 2614 | 823 |
ENST00000319921 | RNF213 | chr17 | 78237577 | + | ENST00000355528 | TBCD | chr17 | 80828099 | + | 2884 | 238 | 141 | 2498 | 785 |
ENST00000319921 | RNF213 | chr17 | 78237577 | + | ENST00000397466 | TBCD | chr17 | 80828099 | + | 1014 | 238 | 998 | 54 | 314 |
ENST00000319921 | RNF213 | chr17 | 78237577 | + | ENST00000539345 | TBCD | chr17 | 80828099 | + | 2859 | 238 | 141 | 2612 | 823 |
ENST00000508628 | RNF213 | chr17 | 78237577 | + | ENST00000355528 | TBCD | chr17 | 80828100 | + | 2888 | 242 | 145 | 2502 | 785 |
ENST00000508628 | RNF213 | chr17 | 78237577 | + | ENST00000397466 | TBCD | chr17 | 80828100 | + | 1018 | 242 | 1002 | 58 | 314 |
ENST00000508628 | RNF213 | chr17 | 78237577 | + | ENST00000539345 | TBCD | chr17 | 80828100 | + | 2863 | 242 | 145 | 2616 | 823 |
ENST00000456466 | RNF213 | chr17 | 78237577 | + | ENST00000355528 | TBCD | chr17 | 80828100 | + | 2886 | 240 | 143 | 2500 | 785 |
ENST00000456466 | RNF213 | chr17 | 78237577 | + | ENST00000397466 | TBCD | chr17 | 80828100 | + | 1016 | 240 | 1000 | 56 | 314 |
ENST00000456466 | RNF213 | chr17 | 78237577 | + | ENST00000539345 | TBCD | chr17 | 80828100 | + | 2861 | 240 | 143 | 2614 | 823 |
ENST00000582970 | RNF213 | chr17 | 78237577 | + | ENST00000355528 | TBCD | chr17 | 80828100 | + | 2886 | 240 | 143 | 2500 | 785 |
ENST00000582970 | RNF213 | chr17 | 78237577 | + | ENST00000397466 | TBCD | chr17 | 80828100 | + | 1016 | 240 | 1000 | 56 | 314 |
ENST00000582970 | RNF213 | chr17 | 78237577 | + | ENST00000539345 | TBCD | chr17 | 80828100 | + | 2861 | 240 | 143 | 2614 | 823 |
ENST00000319921 | RNF213 | chr17 | 78237577 | + | ENST00000355528 | TBCD | chr17 | 80828100 | + | 2884 | 238 | 141 | 2498 | 785 |
ENST00000319921 | RNF213 | chr17 | 78237577 | + | ENST00000397466 | TBCD | chr17 | 80828100 | + | 1014 | 238 | 998 | 54 | 314 |
ENST00000319921 | RNF213 | chr17 | 78237577 | + | ENST00000539345 | TBCD | chr17 | 80828100 | + | 2859 | 238 | 141 | 2612 | 823 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000508628 | ENST00000355528 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + | 0.005404557 | 0.99459547 |
ENST00000508628 | ENST00000397466 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + | 0.016598929 | 0.9834011 |
ENST00000508628 | ENST00000539345 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + | 0.005208318 | 0.9947917 |
ENST00000456466 | ENST00000355528 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + | 0.005457007 | 0.99454296 |
ENST00000456466 | ENST00000397466 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + | 0.016585056 | 0.98341495 |
ENST00000456466 | ENST00000539345 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + | 0.005261858 | 0.99473816 |
ENST00000582970 | ENST00000355528 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + | 0.005457007 | 0.99454296 |
ENST00000582970 | ENST00000397466 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + | 0.016585056 | 0.98341495 |
ENST00000582970 | ENST00000539345 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + | 0.005261858 | 0.99473816 |
ENST00000319921 | ENST00000355528 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + | 0.005455785 | 0.99454415 |
ENST00000319921 | ENST00000397466 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + | 0.015977683 | 0.9840223 |
ENST00000319921 | ENST00000539345 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828099 | + | 0.005254875 | 0.99474514 |
ENST00000508628 | ENST00000355528 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + | 0.005404557 | 0.99459547 |
ENST00000508628 | ENST00000397466 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + | 0.016598929 | 0.9834011 |
ENST00000508628 | ENST00000539345 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + | 0.005208318 | 0.9947917 |
ENST00000456466 | ENST00000355528 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + | 0.005457007 | 0.99454296 |
ENST00000456466 | ENST00000397466 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + | 0.016585056 | 0.98341495 |
ENST00000456466 | ENST00000539345 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + | 0.005261858 | 0.99473816 |
ENST00000582970 | ENST00000355528 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + | 0.005457007 | 0.99454296 |
ENST00000582970 | ENST00000397466 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + | 0.016585056 | 0.98341495 |
ENST00000582970 | ENST00000539345 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + | 0.005261858 | 0.99473816 |
ENST00000319921 | ENST00000355528 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + | 0.005455785 | 0.99454415 |
ENST00000319921 | ENST00000397466 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + | 0.015977683 | 0.9840223 |
ENST00000319921 | ENST00000539345 | RNF213 | chr17 | 78237577 | + | TBCD | chr17 | 80828100 | + | 0.005254875 | 0.99474514 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >74993_74993_1_RNF213-TBCD_RNF213_chr17_78237577_ENST00000319921_TBCD_chr17_80828099_ENST00000355528_length(amino acids)=785AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKT -------------------------------------------------------------- >74993_74993_2_RNF213-TBCD_RNF213_chr17_78237577_ENST00000319921_TBCD_chr17_80828099_ENST00000397466_length(amino acids)=314AA_BP=0 MNTLSPQRNPTDAHTKFCFTFRRHQTPAADARLLVNLLQALHCLLVQMVRDGPVLLGCKFVQGVSNFCAGENRPMPHVKIWTQCHGQQPR EDLRGAELGCLLGQVVQRPRSQLSDDPIPVADLHGNQVVYHWLRVLRKAGNKHTYNQETVGSVTDGKIVSCGQNINTMRESALSPHILLE GGRGCSSAVYVSVKHRSNHQCTRDCSHKGLQLLRLIGTREGPAHVAGGVPDVGAHAAGTPLLVVGQRLQDHGDNCYGGCRRQPLSALAAE -------------------------------------------------------------- >74993_74993_3_RNF213-TBCD_RNF213_chr17_78237577_ENST00000319921_TBCD_chr17_80828099_ENST00000539345_length(amino acids)=823AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVDFPSATLVCVGTVQMYAHTHLRLGAPGPHCAHG SALPRFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKTTASQVYETLLTYSDVVGADVLDEVVTVLSDTAWDAELAVVREQRNRLCDLLG -------------------------------------------------------------- >74993_74993_4_RNF213-TBCD_RNF213_chr17_78237577_ENST00000319921_TBCD_chr17_80828100_ENST00000355528_length(amino acids)=785AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKT -------------------------------------------------------------- >74993_74993_5_RNF213-TBCD_RNF213_chr17_78237577_ENST00000319921_TBCD_chr17_80828100_ENST00000397466_length(amino acids)=314AA_BP=0 MNTLSPQRNPTDAHTKFCFTFRRHQTPAADARLLVNLLQALHCLLVQMVRDGPVLLGCKFVQGVSNFCAGENRPMPHVKIWTQCHGQQPR EDLRGAELGCLLGQVVQRPRSQLSDDPIPVADLHGNQVVYHWLRVLRKAGNKHTYNQETVGSVTDGKIVSCGQNINTMRESALSPHILLE GGRGCSSAVYVSVKHRSNHQCTRDCSHKGLQLLRLIGTREGPAHVAGGVPDVGAHAAGTPLLVVGQRLQDHGDNCYGGCRRQPLSALAAE -------------------------------------------------------------- >74993_74993_6_RNF213-TBCD_RNF213_chr17_78237577_ENST00000319921_TBCD_chr17_80828100_ENST00000539345_length(amino acids)=823AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVDFPSATLVCVGTVQMYAHTHLRLGAPGPHCAHG SALPRFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKTTASQVYETLLTYSDVVGADVLDEVVTVLSDTAWDAELAVVREQRNRLCDLLG -------------------------------------------------------------- >74993_74993_7_RNF213-TBCD_RNF213_chr17_78237577_ENST00000456466_TBCD_chr17_80828099_ENST00000355528_length(amino acids)=785AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKT -------------------------------------------------------------- >74993_74993_8_RNF213-TBCD_RNF213_chr17_78237577_ENST00000456466_TBCD_chr17_80828099_ENST00000397466_length(amino acids)=314AA_BP=0 MNTLSPQRNPTDAHTKFCFTFRRHQTPAADARLLVNLLQALHCLLVQMVRDGPVLLGCKFVQGVSNFCAGENRPMPHVKIWTQCHGQQPR EDLRGAELGCLLGQVVQRPRSQLSDDPIPVADLHGNQVVYHWLRVLRKAGNKHTYNQETVGSVTDGKIVSCGQNINTMRESALSPHILLE GGRGCSSAVYVSVKHRSNHQCTRDCSHKGLQLLRLIGTREGPAHVAGGVPDVGAHAAGTPLLVVGQRLQDHGDNCYGGCRRQPLSALAAE -------------------------------------------------------------- >74993_74993_9_RNF213-TBCD_RNF213_chr17_78237577_ENST00000456466_TBCD_chr17_80828099_ENST00000539345_length(amino acids)=823AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVDFPSATLVCVGTVQMYAHTHLRLGAPGPHCAHG SALPRFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKTTASQVYETLLTYSDVVGADVLDEVVTVLSDTAWDAELAVVREQRNRLCDLLG -------------------------------------------------------------- >74993_74993_10_RNF213-TBCD_RNF213_chr17_78237577_ENST00000456466_TBCD_chr17_80828100_ENST00000355528_length(amino acids)=785AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKT -------------------------------------------------------------- >74993_74993_11_RNF213-TBCD_RNF213_chr17_78237577_ENST00000456466_TBCD_chr17_80828100_ENST00000397466_length(amino acids)=314AA_BP=0 MNTLSPQRNPTDAHTKFCFTFRRHQTPAADARLLVNLLQALHCLLVQMVRDGPVLLGCKFVQGVSNFCAGENRPMPHVKIWTQCHGQQPR EDLRGAELGCLLGQVVQRPRSQLSDDPIPVADLHGNQVVYHWLRVLRKAGNKHTYNQETVGSVTDGKIVSCGQNINTMRESALSPHILLE GGRGCSSAVYVSVKHRSNHQCTRDCSHKGLQLLRLIGTREGPAHVAGGVPDVGAHAAGTPLLVVGQRLQDHGDNCYGGCRRQPLSALAAE -------------------------------------------------------------- >74993_74993_12_RNF213-TBCD_RNF213_chr17_78237577_ENST00000456466_TBCD_chr17_80828100_ENST00000539345_length(amino acids)=823AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVDFPSATLVCVGTVQMYAHTHLRLGAPGPHCAHG SALPRFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKTTASQVYETLLTYSDVVGADVLDEVVTVLSDTAWDAELAVVREQRNRLCDLLG -------------------------------------------------------------- >74993_74993_13_RNF213-TBCD_RNF213_chr17_78237577_ENST00000508628_TBCD_chr17_80828099_ENST00000355528_length(amino acids)=785AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKT -------------------------------------------------------------- >74993_74993_14_RNF213-TBCD_RNF213_chr17_78237577_ENST00000508628_TBCD_chr17_80828099_ENST00000397466_length(amino acids)=314AA_BP=0 MNTLSPQRNPTDAHTKFCFTFRRHQTPAADARLLVNLLQALHCLLVQMVRDGPVLLGCKFVQGVSNFCAGENRPMPHVKIWTQCHGQQPR EDLRGAELGCLLGQVVQRPRSQLSDDPIPVADLHGNQVVYHWLRVLRKAGNKHTYNQETVGSVTDGKIVSCGQNINTMRESALSPHILLE GGRGCSSAVYVSVKHRSNHQCTRDCSHKGLQLLRLIGTREGPAHVAGGVPDVGAHAAGTPLLVVGQRLQDHGDNCYGGCRRQPLSALAAE -------------------------------------------------------------- >74993_74993_15_RNF213-TBCD_RNF213_chr17_78237577_ENST00000508628_TBCD_chr17_80828099_ENST00000539345_length(amino acids)=823AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVDFPSATLVCVGTVQMYAHTHLRLGAPGPHCAHG SALPRFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKTTASQVYETLLTYSDVVGADVLDEVVTVLSDTAWDAELAVVREQRNRLCDLLG -------------------------------------------------------------- >74993_74993_16_RNF213-TBCD_RNF213_chr17_78237577_ENST00000508628_TBCD_chr17_80828100_ENST00000355528_length(amino acids)=785AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKT -------------------------------------------------------------- >74993_74993_17_RNF213-TBCD_RNF213_chr17_78237577_ENST00000508628_TBCD_chr17_80828100_ENST00000397466_length(amino acids)=314AA_BP=0 MNTLSPQRNPTDAHTKFCFTFRRHQTPAADARLLVNLLQALHCLLVQMVRDGPVLLGCKFVQGVSNFCAGENRPMPHVKIWTQCHGQQPR EDLRGAELGCLLGQVVQRPRSQLSDDPIPVADLHGNQVVYHWLRVLRKAGNKHTYNQETVGSVTDGKIVSCGQNINTMRESALSPHILLE GGRGCSSAVYVSVKHRSNHQCTRDCSHKGLQLLRLIGTREGPAHVAGGVPDVGAHAAGTPLLVVGQRLQDHGDNCYGGCRRQPLSALAAE -------------------------------------------------------------- >74993_74993_18_RNF213-TBCD_RNF213_chr17_78237577_ENST00000508628_TBCD_chr17_80828100_ENST00000539345_length(amino acids)=823AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVDFPSATLVCVGTVQMYAHTHLRLGAPGPHCAHG SALPRFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKTTASQVYETLLTYSDVVGADVLDEVVTVLSDTAWDAELAVVREQRNRLCDLLG -------------------------------------------------------------- >74993_74993_19_RNF213-TBCD_RNF213_chr17_78237577_ENST00000582970_TBCD_chr17_80828099_ENST00000355528_length(amino acids)=785AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKT -------------------------------------------------------------- >74993_74993_20_RNF213-TBCD_RNF213_chr17_78237577_ENST00000582970_TBCD_chr17_80828099_ENST00000397466_length(amino acids)=314AA_BP=0 MNTLSPQRNPTDAHTKFCFTFRRHQTPAADARLLVNLLQALHCLLVQMVRDGPVLLGCKFVQGVSNFCAGENRPMPHVKIWTQCHGQQPR EDLRGAELGCLLGQVVQRPRSQLSDDPIPVADLHGNQVVYHWLRVLRKAGNKHTYNQETVGSVTDGKIVSCGQNINTMRESALSPHILLE GGRGCSSAVYVSVKHRSNHQCTRDCSHKGLQLLRLIGTREGPAHVAGGVPDVGAHAAGTPLLVVGQRLQDHGDNCYGGCRRQPLSALAAE -------------------------------------------------------------- >74993_74993_21_RNF213-TBCD_RNF213_chr17_78237577_ENST00000582970_TBCD_chr17_80828099_ENST00000539345_length(amino acids)=823AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVDFPSATLVCVGTVQMYAHTHLRLGAPGPHCAHG SALPRFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKTTASQVYETLLTYSDVVGADVLDEVVTVLSDTAWDAELAVVREQRNRLCDLLG -------------------------------------------------------------- >74993_74993_22_RNF213-TBCD_RNF213_chr17_78237577_ENST00000582970_TBCD_chr17_80828100_ENST00000355528_length(amino acids)=785AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKT -------------------------------------------------------------- >74993_74993_23_RNF213-TBCD_RNF213_chr17_78237577_ENST00000582970_TBCD_chr17_80828100_ENST00000397466_length(amino acids)=314AA_BP=0 MNTLSPQRNPTDAHTKFCFTFRRHQTPAADARLLVNLLQALHCLLVQMVRDGPVLLGCKFVQGVSNFCAGENRPMPHVKIWTQCHGQQPR EDLRGAELGCLLGQVVQRPRSQLSDDPIPVADLHGNQVVYHWLRVLRKAGNKHTYNQETVGSVTDGKIVSCGQNINTMRESALSPHILLE GGRGCSSAVYVSVKHRSNHQCTRDCSHKGLQLLRLIGTREGPAHVAGGVPDVGAHAAGTPLLVVGQRLQDHGDNCYGGCRRQPLSALAAE -------------------------------------------------------------- >74993_74993_24_RNF213-TBCD_RNF213_chr17_78237577_ENST00000582970_TBCD_chr17_80828100_ENST00000539345_length(amino acids)=823AA_BP=25 MECPSCQHVSKEETPKFCSQCGERLPPAAPIAVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEPQELKPFVTAISSALVIA AVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVGNRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARAL HNLAQQAPEFSATQVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQQLYDRQLYRGLGGQLMR QAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSHSRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNP EEMTRCGFSLALGALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAVCGENVSQIYCALLGCMD DYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCERIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEK LFPRSDVASVNWSAPSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALGSFSGTLLQIFEDNLLNE RVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIKNSKDIQKLLSGIAVDFPSATLVCVGTVQMYAHTHLRLGAPGPHCAHG SALPRFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKTTASQVYETLLTYSDVVGADVLDEVVTVLSDTAWDAELAVVREQRNRLCDLLG -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:78237577/chr17:80828100) - 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 |
RNF213 | . |
FUNCTION: Atypical E3 ubiquitin ligase that can catalyze ubiquitination of both proteins and lipids, and which is involved in various processes, such as lipid metabolism, angiogenesis and cell-autonomous immunity (PubMed:21799892, PubMed:26126547, PubMed:26278786, PubMed:26766444, PubMed:30705059, PubMed:32139119, PubMed:34012115). Acts as a key immune sensor by catalyzing ubiquitination of the lipid A moiety of bacterial lipopolysaccharide (LPS) via its RZ-type zinc-finger: restricts the proliferation of cytosolic bacteria, such as Salmonella, by generating the bacterial ubiquitin coat through the ubiquitination of LPS (PubMed:34012115). Also acts indirectly by mediating the recruitment of the LUBAC complex, which conjugates linear polyubiquitin chains (PubMed:34012115). Ubiquitination of LPS triggers cell-autonomous immunity, such as antibacterial autophagy, leading to degradation of the microbial invader (PubMed:34012115). Involved in lipid metabolism by regulating fat storage and lipid droplet formation; act by inhibiting the lipolytic process (PubMed:30705059). Also regulates lipotoxicity by inhibiting desaturation of fatty acids (PubMed:30846318). Also acts as an E3 ubiquitin-protein ligase via its RING-type zinc finger: mediates 'Lys-63'-linked ubiquitination of target proteins (PubMed:32139119, PubMed:33842849). Involved in the non-canonical Wnt signaling pathway in vascular development: acts by mediating ubiquitination and degradation of FLNA and NFATC2 downstream of RSPO3, leading to inhibit the non-canonical Wnt signaling pathway and promoting vessel regression (PubMed:26766444). Also has ATPase activity; ATPase activity is required for ubiquitination of LPS (PubMed:34012115). {ECO:0000269|PubMed:21799892, ECO:0000269|PubMed:26126547, ECO:0000269|PubMed:26278786, ECO:0000269|PubMed:26766444, ECO:0000269|PubMed:30705059, ECO:0000269|PubMed:30846318, ECO:0000269|PubMed:32139119, ECO:0000269|PubMed:33842849, ECO:0000269|PubMed:34012115}. | 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. |
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- 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 | TBCD | chr17:78237577 | chr17:80828099 | ENST00000355528 | 12 | 39 | 557_594 | 439.3333333333333 | 1193.0 | Repeat | Note=HEAT 2 | |
Tgene | TBCD | chr17:78237577 | chr17:80828099 | ENST00000355528 | 12 | 39 | 596_632 | 439.3333333333333 | 1193.0 | Repeat | Note=HEAT 3 | |
Tgene | TBCD | chr17:78237577 | chr17:80828100 | ENST00000355528 | 12 | 39 | 557_594 | 439.3333333333333 | 1193.0 | Repeat | Note=HEAT 2 | |
Tgene | TBCD | chr17:78237577 | chr17:80828100 | ENST00000355528 | 12 | 39 | 596_632 | 439.3333333333333 | 1193.0 | Repeat | Note=HEAT 3 |
- 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 | RNF213 | chr17:78237577 | chr17:80828099 | ENST00000319921 | + | 2 | 17 | 343_374 | 32.333333333333336 | 1064.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | RNF213 | chr17:78237577 | chr17:80828099 | ENST00000508628 | + | 2 | 69 | 343_374 | 32.333333333333336 | 5257.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | RNF213 | chr17:78237577 | chr17:80828099 | ENST00000582970 | + | 2 | 68 | 343_374 | 32.333333333333336 | 5208.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | RNF213 | chr17:78237577 | chr17:80828100 | ENST00000319921 | + | 2 | 17 | 343_374 | 32.333333333333336 | 1064.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | RNF213 | chr17:78237577 | chr17:80828100 | ENST00000508628 | + | 2 | 69 | 343_374 | 32.333333333333336 | 5257.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | RNF213 | chr17:78237577 | chr17:80828100 | ENST00000582970 | + | 2 | 68 | 343_374 | 32.333333333333336 | 5208.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | RNF213 | chr17:78237577 | chr17:80828099 | ENST00000319921 | + | 2 | 17 | 3997_4036 | 32.333333333333336 | 1064.0 | Zinc finger | RING-type |
Hgene | RNF213 | chr17:78237577 | chr17:80828099 | ENST00000508628 | + | 2 | 69 | 3997_4036 | 32.333333333333336 | 5257.0 | Zinc finger | RING-type |
Hgene | RNF213 | chr17:78237577 | chr17:80828099 | ENST00000582970 | + | 2 | 68 | 3997_4036 | 32.333333333333336 | 5208.0 | Zinc finger | RING-type |
Hgene | RNF213 | chr17:78237577 | chr17:80828100 | ENST00000319921 | + | 2 | 17 | 3997_4036 | 32.333333333333336 | 1064.0 | Zinc finger | RING-type |
Hgene | RNF213 | chr17:78237577 | chr17:80828100 | ENST00000508628 | + | 2 | 69 | 3997_4036 | 32.333333333333336 | 5257.0 | Zinc finger | RING-type |
Hgene | RNF213 | chr17:78237577 | chr17:80828100 | ENST00000582970 | + | 2 | 68 | 3997_4036 | 32.333333333333336 | 5208.0 | Zinc finger | RING-type |
Tgene | TBCD | chr17:78237577 | chr17:80828099 | ENST00000355528 | 12 | 39 | 361_399 | 439.3333333333333 | 1193.0 | Repeat | Note=HEAT 1 | |
Tgene | TBCD | chr17:78237577 | chr17:80828100 | ENST00000355528 | 12 | 39 | 361_399 | 439.3333333333333 | 1193.0 | Repeat | Note=HEAT 1 |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
RNF213 | tat, UBC, vpu, CBX2, CBX4, CBX6, EGFR, PLAC9, RNF213, TRIM23, GOLGA2, REL, TRIM27, TRIP6, UBXN11, KRT40, CD244, SCN2B, IFI16, PTPN1, MRPL50, RNASEH2B, Kif4, Ube2k, Rpl35, GAN, MCM2, ATOH1, DLK2, SIGLECL1, SDC2, LAMP3, CYLD, HNRNPL, UBE2M, USP15, LYAR, HNRNPK, ITPR3, UBE2L3, UBE2D2, ESR2, RNF123, KIAA1429, CTDP1, MTDH, CEBPD, UNC93B1, AHNAK2, COPE, CPNE8, GNB1, GTSE1, LMNA, NOLC1, PLOD2, RPS12, SCRIB, SMTN, SNRPD2, SRPR, TCEB2, TPM2, UACA, ORF7a, SH2D3C, HIST1H1A, nsp5, nsp2, nsp6, CIT, AURKB, CHMP4C, KIF14, TRIM66, FIS1, OCIAD1, SUMO2, BRD4, CUL4A, UBE2D3, BAG5, AR, ATG5, IGHM, SLC35G1, NPTN, OPALIN, EFNB1, GCGR, C19orf38, HCST, LOC388882, GPR17, C5AR1, UPK2, CD40, OSTM1, FPR1, TACSTD2, RELT, TMEM55B, VSIG4, HLA-B, TMEM9B, NPDC1, BSG, GPR45, FAM174A, STK16, GPR182, MFSD4, MGARP, CLEC4A, HS2ST1, FFAR1, SGCA, HLA-C, UBE2N, UBE2U, SLFN11, FBXW7, |
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Gene | STRING network |
RNF213 | |
TBCD |
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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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Related Drugs to RNF213-TBCD |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to RNF213-TBCD |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | RNF213 | C1846689 | MOYAMOYA DISEASE 2 | 9 | CTD_human;UNIPROT |
Hgene | RNF213 | C0026654 | Moyamoya Disease | 3 | ORPHANET |
Hgene | RNF213 | C2931384 | Moyamoya disease 1 | 3 | ORPHANET |