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Fusion Protein:KCNQ1-GALNTL6 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: KCNQ1-GALNTL6 | FusionPDB ID: 41535 | FusionGDB2.0 ID: 41535 | Hgene | Tgene | Gene symbol | KCNQ1 | GALNTL6 | Gene ID | 3784 | 442117 |
Gene name | potassium voltage-gated channel subfamily Q member 1 | polypeptide N-acetylgalactosaminyltransferase like 6 | |
Synonyms | ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS | GALNACT20|GALNT17|GalNAc-T6L | |
Cytomap | 11p15.5-p15.4 | 4q34.1 | |
Type of gene | protein-coding | protein-coding | |
Description | potassium voltage-gated channel subfamily KQT member 1IKs producing slow voltage-gated potassium channel subunit alpha KvLQT1kidney and cardiac voltage dependend K+ channelpotassium channel, voltage gated KQT-like subfamily Q, member 1potassium voltag | polypeptide N-acetylgalactosaminyltransferase-like 6GaNTase 17GalNAc transferase 17UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 17UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 20UDP-N-acetyl-alpha-D-gala | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | P51787 | Q49A17 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000526095, ENST00000155840, ENST00000335475, | ENST00000506823, ENST00000508122, ENST00000457021, ENST00000511251, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 19 X 12 X 11=2508 | 16 X 15 X 8=1920 |
# samples | 23 | 18 | |
** MAII score | log2(23/2508*10)=-3.44683158185766 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(18/1920*10)=-3.41503749927884 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: KCNQ1 [Title/Abstract] AND GALNTL6 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | KCNQ1(2799267)-GALNTL6(173930329), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | KCNQ1-GALNTL6 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. KCNQ1-GALNTL6 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. KCNQ1-GALNTL6 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. KCNQ1-GALNTL6 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. |
* 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 | KCNQ1 | GO:0035690 | cellular response to drug | 9108097 |
Hgene | KCNQ1 | GO:0060306 | regulation of membrane repolarization | 11299204 |
Hgene | KCNQ1 | GO:0071320 | cellular response to cAMP | 11299204|16002409 |
Hgene | KCNQ1 | GO:0071805 | potassium ion transmembrane transport | 9354802|11299204|16002409 |
Hgene | KCNQ1 | GO:0086011 | membrane repolarization during action potential | 8900283|11299204|19646991 |
Hgene | KCNQ1 | GO:0097623 | potassium ion export across plasma membrane | 8900283|10400998|17289006 |
Hgene | KCNQ1 | GO:1901381 | positive regulation of potassium ion transmembrane transport | 8900283 |
Tgene | GALNTL6 | GO:0018243 | protein O-linked glycosylation via threonine | 22186971 |
![]() * 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 | COAD | TCGA-D5-5538-01A | KCNQ1 | chr11 | 2799267 | - | GALNTL6 | chr4 | 173930329 | + |
ChimerDB4 | COAD | TCGA-D5-5538-01A | KCNQ1 | chr11 | 2799267 | + | GALNTL6 | chr4 | 173930329 | + |
ChimerDB4 | COAD | TCGA-D5-5538 | KCNQ1 | chr11 | 2799267 | + | GALNTL6 | chr4 | 173930328 | + |
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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) |
ENST00000155840 | KCNQ1 | chr11 | 2799267 | + | ENST00000506823 | GALNTL6 | chr4 | 173930329 | + | 3796 | 1902 | 9 | 2336 | 775 |
ENST00000155840 | KCNQ1 | chr11 | 2799267 | + | ENST00000508122 | GALNTL6 | chr4 | 173930329 | + | 2337 | 1902 | 9 | 2336 | 775 |
ENST00000335475 | KCNQ1 | chr11 | 2799267 | + | ENST00000506823 | GALNTL6 | chr4 | 173930329 | + | 3581 | 1687 | 274 | 2121 | 615 |
ENST00000335475 | KCNQ1 | chr11 | 2799267 | + | ENST00000508122 | GALNTL6 | chr4 | 173930329 | + | 2122 | 1687 | 274 | 2121 | 616 |
ENST00000155840 | KCNQ1 | chr11 | 2799267 | + | ENST00000506823 | GALNTL6 | chr4 | 173930328 | + | 3796 | 1902 | 9 | 2336 | 775 |
ENST00000155840 | KCNQ1 | chr11 | 2799267 | + | ENST00000508122 | GALNTL6 | chr4 | 173930328 | + | 2337 | 1902 | 9 | 2336 | 775 |
ENST00000335475 | KCNQ1 | chr11 | 2799267 | + | ENST00000506823 | GALNTL6 | chr4 | 173930328 | + | 3581 | 1687 | 274 | 2121 | 615 |
ENST00000335475 | KCNQ1 | chr11 | 2799267 | + | ENST00000508122 | GALNTL6 | chr4 | 173930328 | + | 2122 | 1687 | 274 | 2121 | 616 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000155840 | ENST00000506823 | KCNQ1 | chr11 | 2799267 | + | GALNTL6 | chr4 | 173930329 | + | 0.005850912 | 0.9941491 |
ENST00000155840 | ENST00000508122 | KCNQ1 | chr11 | 2799267 | + | GALNTL6 | chr4 | 173930329 | + | 0.022310672 | 0.9776894 |
ENST00000335475 | ENST00000506823 | KCNQ1 | chr11 | 2799267 | + | GALNTL6 | chr4 | 173930329 | + | 0.003795548 | 0.99620444 |
ENST00000335475 | ENST00000508122 | KCNQ1 | chr11 | 2799267 | + | GALNTL6 | chr4 | 173930329 | + | 0.019311497 | 0.98068845 |
ENST00000155840 | ENST00000506823 | KCNQ1 | chr11 | 2799267 | + | GALNTL6 | chr4 | 173930328 | + | 0.005850912 | 0.9941491 |
ENST00000155840 | ENST00000508122 | KCNQ1 | chr11 | 2799267 | + | GALNTL6 | chr4 | 173930328 | + | 0.022310672 | 0.9776894 |
ENST00000335475 | ENST00000506823 | KCNQ1 | chr11 | 2799267 | + | GALNTL6 | chr4 | 173930328 | + | 0.003795548 | 0.99620444 |
ENST00000335475 | ENST00000508122 | KCNQ1 | chr11 | 2799267 | + | GALNTL6 | chr4 | 173930328 | + | 0.019311497 | 0.98068845 |
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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 >41535_41535_1_KCNQ1-GALNTL6_KCNQ1_chr11_2799267_ENST00000155840_GALNTL6_chr4_173930328_ENST00000506823_length(amino acids)=775AA_BP=631 MAAVAARTAPGRSPSLQLPVPPLGPAPRQALLVMAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPG APGPAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQ YAALATGTLFWMEIVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILR MLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKT IASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVV VKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLR EHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVED KIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNSPVTLYDCHGMKGNQLWGYRK -------------------------------------------------------------- >41535_41535_2_KCNQ1-GALNTL6_KCNQ1_chr11_2799267_ENST00000155840_GALNTL6_chr4_173930328_ENST00000508122_length(amino acids)=775AA_BP=631 MAAVAARTAPGRSPSLQLPVPPLGPAPRQALLVMAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPG APGPAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQ YAALATGTLFWMEIVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILR MLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKT IASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVV VKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLR EHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVED KIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNSPVTLYDCHGMKGNQLWGYRK -------------------------------------------------------------- >41535_41535_3_KCNQ1-GALNTL6_KCNQ1_chr11_2799267_ENST00000155840_GALNTL6_chr4_173930329_ENST00000506823_length(amino acids)=775AA_BP=631 MAAVAARTAPGRSPSLQLPVPPLGPAPRQALLVMAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPG APGPAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQ YAALATGTLFWMEIVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILR MLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKT IASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVV VKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLR EHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVED KIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNSPVTLYDCHGMKGNQLWGYRK -------------------------------------------------------------- >41535_41535_4_KCNQ1-GALNTL6_KCNQ1_chr11_2799267_ENST00000155840_GALNTL6_chr4_173930329_ENST00000508122_length(amino acids)=775AA_BP=631 MAAVAARTAPGRSPSLQLPVPPLGPAPRQALLVMAAASSPPRAERKRWGWGRLPGARRGSAGLAKKCPFSLELAEGGPAGGALYAPIAPG APGPAPPASPAAPAAPPVASDLGPRPPVSLDPRVSIYSTRRPVLARTHVQGRVYNFLERPTGWKCFVYHFAVFLIVLVCLIFSVLSTIEQ YAALATGTLFWMEIVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGSKGQVFATSAIRGIRFLQILR MLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGVVTVTTIGYGDKVPQTWVGKT IASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIRKAPRSHTLLSPSPKPKKSVV VKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAEDLDLEGETLLTPITHISQLR EHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVSEKSKDRGSNTIGARLNRVED KIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNSPVTLYDCHGMKGNQLWGYRK -------------------------------------------------------------- >41535_41535_5_KCNQ1-GALNTL6_KCNQ1_chr11_2799267_ENST00000335475_GALNTL6_chr4_173930328_ENST00000506823_length(amino acids)=615AA_BP=471 MDFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGS KGQVFATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGV VTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIR KAPRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAE DLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVS EKSKDRGSNTIGARLNRVEDKIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNS -------------------------------------------------------------- >41535_41535_6_KCNQ1-GALNTL6_KCNQ1_chr11_2799267_ENST00000335475_GALNTL6_chr4_173930328_ENST00000508122_length(amino acids)=616AA_BP=471 MDFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGS KGQVFATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGV VTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIR KAPRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAE DLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVS EKSKDRGSNTIGARLNRVEDKIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNS -------------------------------------------------------------- >41535_41535_7_KCNQ1-GALNTL6_KCNQ1_chr11_2799267_ENST00000335475_GALNTL6_chr4_173930329_ENST00000506823_length(amino acids)=615AA_BP=471 MDFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGS KGQVFATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGV VTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIR KAPRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAE DLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVS EKSKDRGSNTIGARLNRVEDKIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNS -------------------------------------------------------------- >41535_41535_8_KCNQ1-GALNTL6_KCNQ1_chr11_2799267_ENST00000335475_GALNTL6_chr4_173930329_ENST00000508122_length(amino acids)=616AA_BP=471 MDFLIVLVCLIFSVLSTIEQYAALATGTLFWMEIVLVVFFGTEYVVRLWSAGCRSKYVGLWGRLRFARKPISIIDLIVVVASMVVLCVGS KGQVFATSAIRGIRFLQILRMLHVDRQGGTWRLLGSVVFIHRQELITTLYIGFLGLIFSSYFVYLAEKDAVNESGRVEFGSYADALWWGV VTVTTIGYGDKVPQTWVGKTIASCFSVFAISFFALPAGILGSGFALKVQQKQRQKHFNRQIPAAASLIQTAWRCYAAENPDSSTWKIYIR KAPRSHTLLSPSPKPKKSVVVKKKKFKLDKDNGVTPGEKMLTVPHITCDPPEERRLDHFSVDGYDSSVRKSPTLLEVSMPHFMRTNSFAE DLDLEGETLLTPITHISQLREHHRATIKVIRRMQYFVAKKKFQQARKPYDVRDVIEQYSQGHLNLMVRIKELQRRLDQSIGKPSLFISVS EKSKDRGSNTIGARLNRVEDKIRNVAANLCVDSKHGATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNS -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:2799267/chr4:173930329) - 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 |
KCNQ1 | GALNTL6 |
FUNCTION: Potassium channel that plays an important role in a number of tissues, including heart, inner ear, stomach and colon (PubMed:10646604, PubMed:25441029). Associates with KCNE beta subunits that modulates current kinetics (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:19687231). Induces a voltage-dependent current by rapidly activating and slowly deactivating potassium-selective outward current (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505, PubMed:25441029). Promotes also a delayed voltage activated potassium current showing outward rectification characteristic (By similarity). During beta-adrenergic receptor stimulation participates in cardiac repolarization by associating with KCNE1 to form the I(Ks) cardiac potassium current that increases the amplitude and slows down the activation kinetics of outward potassium current I(Ks) (By similarity) (PubMed:9312006, PubMed:9108097, PubMed:8900283, PubMed:10646604, PubMed:11101505). Muscarinic agonist oxotremorine-M strongly suppresses KCNQ1/KCNE1 current (PubMed:10713961). When associated with KCNE3, forms the potassium channel that is important for cyclic AMP-stimulated intestinal secretion of chloride ions (PubMed:10646604). This interaction with KCNE3 is reduced by 17beta-estradiol, resulting in the reduction of currents (By similarity). During conditions of increased substrate load, maintains the driving force for proximal tubular and intestinal sodium ions absorption, gastric acid secretion, and cAMP-induced jejunal chloride ions secretion (By similarity). Allows the provision of potassium ions to the luminal membrane of the secretory canaliculus in the resting state as well as during stimulated acid secretion (By similarity). When associated with KCNE2, forms a heterooligomer complex leading to currents with an apparently instantaneous activation, a rapid deactivation process and a linear current-voltage relationship and decreases the amplitude of the outward current (PubMed:11101505). When associated with KCNE4, inhibits voltage-gated potassium channel activity (PubMed:19687231). When associated with KCNE5, this complex only conducts current upon strong and continued depolarization (PubMed:12324418). Also forms a heterotetramer with KCNQ5; has a voltage-gated potassium channel activity (PubMed:24855057). Binds with phosphatidylinositol 4,5-bisphosphate (PubMed:25037568). {ECO:0000250|UniProtKB:P97414, ECO:0000250|UniProtKB:Q9Z0N7, ECO:0000269|PubMed:10646604, ECO:0000269|PubMed:10713961, ECO:0000269|PubMed:11101505, ECO:0000269|PubMed:12324418, ECO:0000269|PubMed:19687231, ECO:0000269|PubMed:24855057, ECO:0000269|PubMed:25037568, ECO:0000269|PubMed:8900283, ECO:0000269|PubMed:9108097, ECO:0000269|PubMed:9312006}.; FUNCTION: [Isoform 2]: Non-functional alone but modulatory when coexpressed with the full-length isoform 1. {ECO:0000269|PubMed:9305853}. | FUNCTION: Catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. {ECO:0000250}. |
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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 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 300_320 | 598.0 | 677.0 | Intramembrane | Pore-forming%3B Name%3DSegment H5 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 300_320 | 471.0 | 550.0 | Intramembrane | Pore-forming%3B Name%3DSegment H5 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 300_320 | 598.0 | 677.0 | Intramembrane | Pore-forming%3B Name%3DSegment H5 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 300_320 | 471.0 | 550.0 | Intramembrane | Pore-forming%3B Name%3DSegment H5 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 312_317 | 598.0 | 677.0 | Motif | Selectivity filter |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 312_317 | 471.0 | 550.0 | Motif | Selectivity filter |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 312_317 | 598.0 | 677.0 | Motif | Selectivity filter |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 312_317 | 471.0 | 550.0 | Motif | Selectivity filter |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 143_147 | 598.0 | 677.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 169_196 | 598.0 | 677.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 1_121 | 598.0 | 677.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 218_225 | 598.0 | 677.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 249_261 | 598.0 | 677.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 283_299 | 598.0 | 677.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 321_327 | 598.0 | 677.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 143_147 | 471.0 | 550.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 169_196 | 471.0 | 550.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 1_121 | 471.0 | 550.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 218_225 | 471.0 | 550.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 249_261 | 471.0 | 550.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 283_299 | 471.0 | 550.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 321_327 | 471.0 | 550.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 143_147 | 598.0 | 677.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 169_196 | 598.0 | 677.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 1_121 | 598.0 | 677.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 218_225 | 598.0 | 677.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 249_261 | 598.0 | 677.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 283_299 | 598.0 | 677.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 321_327 | 598.0 | 677.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 143_147 | 471.0 | 550.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 169_196 | 471.0 | 550.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 1_121 | 471.0 | 550.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 218_225 | 471.0 | 550.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 249_261 | 471.0 | 550.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 283_299 | 471.0 | 550.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 321_327 | 471.0 | 550.0 | Topological domain | Extracellular |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 122_142 | 598.0 | 677.0 | Transmembrane | Helical%3B Name%3DSegment S1 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 148_168 | 598.0 | 677.0 | Transmembrane | Helical%3B Name%3DSegment S2 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 197_217 | 598.0 | 677.0 | Transmembrane | Helical%3B Name%3DSegment S3 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 226_248 | 598.0 | 677.0 | Transmembrane | Helical%3B Voltage-sensor%3B Name%3DSegment S4 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 262_282 | 598.0 | 677.0 | Transmembrane | Helical%3B Name%3DSegment S5 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 328_348 | 598.0 | 677.0 | Transmembrane | Helical%3B Name%3DSegment S6 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 122_142 | 471.0 | 550.0 | Transmembrane | Helical%3B Name%3DSegment S1 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 148_168 | 471.0 | 550.0 | Transmembrane | Helical%3B Name%3DSegment S2 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 197_217 | 471.0 | 550.0 | Transmembrane | Helical%3B Name%3DSegment S3 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 226_248 | 471.0 | 550.0 | Transmembrane | Helical%3B Voltage-sensor%3B Name%3DSegment S4 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 262_282 | 471.0 | 550.0 | Transmembrane | Helical%3B Name%3DSegment S5 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 328_348 | 471.0 | 550.0 | Transmembrane | Helical%3B Name%3DSegment S6 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 122_142 | 598.0 | 677.0 | Transmembrane | Helical%3B Name%3DSegment S1 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 148_168 | 598.0 | 677.0 | Transmembrane | Helical%3B Name%3DSegment S2 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 197_217 | 598.0 | 677.0 | Transmembrane | Helical%3B Name%3DSegment S3 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 226_248 | 598.0 | 677.0 | Transmembrane | Helical%3B Voltage-sensor%3B Name%3DSegment S4 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 262_282 | 598.0 | 677.0 | Transmembrane | Helical%3B Name%3DSegment S5 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 328_348 | 598.0 | 677.0 | Transmembrane | Helical%3B Name%3DSegment S6 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 122_142 | 471.0 | 550.0 | Transmembrane | Helical%3B Name%3DSegment S1 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 148_168 | 471.0 | 550.0 | Transmembrane | Helical%3B Name%3DSegment S2 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 197_217 | 471.0 | 550.0 | Transmembrane | Helical%3B Name%3DSegment S3 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 226_248 | 471.0 | 550.0 | Transmembrane | Helical%3B Voltage-sensor%3B Name%3DSegment S4 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 262_282 | 471.0 | 550.0 | Transmembrane | Helical%3B Name%3DSegment S5 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 328_348 | 471.0 | 550.0 | Transmembrane | Helical%3B Name%3DSegment S6 |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930328 | ENST00000508122 | 8 | 12 | 453_585 | 440.0 | 585.0 | Domain | Ricin B-type lectin | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930329 | ENST00000508122 | 8 | 12 | 453_585 | 440.0 | 585.0 | Domain | Ricin B-type lectin |
- 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 | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 585_621 | 598.0 | 677.0 | Coiled coil | Ontology_term=ECO:0000269 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 585_621 | 471.0 | 550.0 | Coiled coil | Ontology_term=ECO:0000269 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 585_621 | 598.0 | 677.0 | Coiled coil | Ontology_term=ECO:0000269 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 585_621 | 471.0 | 550.0 | Coiled coil | Ontology_term=ECO:0000269 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 589_620 | 598.0 | 677.0 | Region | C-terminal assembly domain |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 589_620 | 471.0 | 550.0 | Region | C-terminal assembly domain |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 589_620 | 598.0 | 677.0 | Region | C-terminal assembly domain |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 589_620 | 471.0 | 550.0 | Region | C-terminal assembly domain |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 349_676 | 598.0 | 677.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 349_676 | 471.0 | 550.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 349_676 | 598.0 | 677.0 | Topological domain | Cytoplasmic |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 349_676 | 471.0 | 550.0 | Topological domain | Cytoplasmic |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930328 | ENST00000506823 | 9 | 13 | 453_585 | 457.0 | 602.0 | Domain | Ricin B-type lectin | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930329 | ENST00000506823 | 9 | 13 | 453_585 | 457.0 | 602.0 | Domain | Ricin B-type lectin | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930328 | ENST00000506823 | 9 | 13 | 139_248 | 457.0 | 602.0 | Region | Note=Catalytic subdomain A | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930328 | ENST00000506823 | 9 | 13 | 306_368 | 457.0 | 602.0 | Region | Note=Catalytic subdomain B | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930328 | ENST00000508122 | 8 | 12 | 139_248 | 440.0 | 585.0 | Region | Note=Catalytic subdomain A | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930328 | ENST00000508122 | 8 | 12 | 306_368 | 440.0 | 585.0 | Region | Note=Catalytic subdomain B | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930329 | ENST00000506823 | 9 | 13 | 139_248 | 457.0 | 602.0 | Region | Note=Catalytic subdomain A | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930329 | ENST00000506823 | 9 | 13 | 306_368 | 457.0 | 602.0 | Region | Note=Catalytic subdomain B | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930329 | ENST00000508122 | 8 | 12 | 139_248 | 440.0 | 585.0 | Region | Note=Catalytic subdomain A | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930329 | ENST00000508122 | 8 | 12 | 306_368 | 440.0 | 585.0 | Region | Note=Catalytic subdomain B | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930328 | ENST00000506823 | 9 | 13 | 1_7 | 457.0 | 602.0 | Topological domain | Cytoplasmic | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930328 | ENST00000506823 | 9 | 13 | 29_601 | 457.0 | 602.0 | Topological domain | Lumenal | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930328 | ENST00000508122 | 8 | 12 | 1_7 | 440.0 | 585.0 | Topological domain | Cytoplasmic | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930328 | ENST00000508122 | 8 | 12 | 29_601 | 440.0 | 585.0 | Topological domain | Lumenal | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930329 | ENST00000506823 | 9 | 13 | 1_7 | 457.0 | 602.0 | Topological domain | Cytoplasmic | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930329 | ENST00000506823 | 9 | 13 | 29_601 | 457.0 | 602.0 | Topological domain | Lumenal | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930329 | ENST00000508122 | 8 | 12 | 1_7 | 440.0 | 585.0 | Topological domain | Cytoplasmic | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930329 | ENST00000508122 | 8 | 12 | 29_601 | 440.0 | 585.0 | Topological domain | Lumenal | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930328 | ENST00000506823 | 9 | 13 | 8_28 | 457.0 | 602.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930328 | ENST00000508122 | 8 | 12 | 8_28 | 440.0 | 585.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930329 | ENST00000506823 | 9 | 13 | 8_28 | 457.0 | 602.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein | |
Tgene | GALNTL6 | chr11:2799267 | chr4:173930329 | ENST00000508122 | 8 | 12 | 8_28 | 440.0 | 585.0 | Transmembrane | Helical%3B Signal-anchor for type II membrane protein |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
KCNQ1 | |
GALNTL6 |
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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 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000155840 | + | 15 | 16 | 588_616 | 598.0 | 677.0 | AKAP9 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 588_616 | 471.0 | 550.0 | AKAP9 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000155840 | + | 15 | 16 | 588_616 | 598.0 | 677.0 | AKAP9 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 588_616 | 471.0 | 550.0 | AKAP9 |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 515_529 | 471.0 | 550.0 | CALM%3B calcium-dependent |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 515_529 | 471.0 | 550.0 | CALM%3B calcium-dependent |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930328 | ENST00000335475 | + | 15 | 16 | 535_572 | 471.0 | 550.0 | KCNE1 C-terminus |
Hgene | KCNQ1 | chr11:2799267 | chr4:173930329 | ENST00000335475 | + | 15 | 16 | 535_572 | 471.0 | 550.0 | KCNE1 C-terminus |
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Related Drugs to KCNQ1-GALNTL6 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to KCNQ1-GALNTL6 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |