Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000409508 [[21582832, 21583214], [21584623, 21584767], [21598419, 21598616], [21599220, 21599410], [21600688, 21600788], [21603803, 21604015], [21609686, 21609917], [21611423, 21611591], [21621522, 21621639], [21627681, 21627819], [21628129, 21628254], [21628825, 21629021], [21630535, 21630640], [21630802, 21631195], [21639404, 21639737], [21640293, 21640548], [21640627, 21640797], [21641013, 21641236], [21646043, 21646160], [21646264, 21646351], [21654731, 21654890], [21655826, 21655910], [21657236, 21657395], [21658717, 21658840], [21659573, 21659696], [21675488, 21675713], [21677228, 21677320], [21678556, 21678683], [21695449, 21695599], [21698415, 21698649], [21721163, 21721295], [21723401, 21723562], [21726716, 21726873], [21726999, 21727145], [21730382, 21730499], [21737692, 21737831], [21742327, 21742420], [21744051, 21744246], [21745077, 21745155], [21747316, 21747453], [21750170, 21750321], [21751329, 21751478], [21757392, 21757543], [21760342, 21760474], [21765428, 21765602], [21775257, 21775462], [21778318, 21778484], [21779188, 21779291], [21781544, 21781784], [21784055, 21784217], [21784487, 21784681], [21788197, 21788360], [21789295, 21789419], [21789839, 21789982], [21805045, 21805207], [21813383, 21813617], [21818575, 21818722], [21824044, 21824158], [21826241, 21826385], [21827018, 21827201], [21828858, 21828960], [21840754, 21840893], [21847500, 21847667], [21856084, 21856320], [21857834, 21857957], [21882161, 21882366], [21892084, 21892249], [21893932, 21894073], [21901470, 21901641], [21904152, 21904275], [21906087, 21906281], [21907476, 21907625], [21908481, 21908609], [21912891, 21913119], [21920319, 21920511], [21923908, 21924028], [21932042, 21932285], [21934240, 21934423], [21934501, 21934617], [21938953, 21939066], [21939597, 21939738], [21940624, 21941457]] [[21582863, 21583214], [21584623, 21584767], [21598419, 21598616], [21599220, 21599410], [21600688, 21600788], [21603803, 21604015], [21609686, 21609917], [21611423, 21611591], [21621522, 21621639], [21627681, 21627819], [21628129, 21628254], [21628825, 21629021], [21630535, 21630640], [21630802, 21631195], [21639404, 21639737], [21640293, 21640548], [21640627, 21640797], [21641013, 21641236], [21646043, 21646160], [21646264, 21646351], [21654731, 21654890], [21655826, 21655910], [21657236, 21657395], [21658717, 21658840], [21659573, 21659696], [21675488, 21675713], [21677228, 21677320], [21678556, 21678683], [21695449, 21695599], [21698415, 21698649], [21721163, 21721295], [21723401, 21723562], [21726716, 21726873], [21726999, 21727145], [21730382, 21730499], [21737692, 21737831], [21742327, 21742420], [21744051, 21744246], [21745077, 21745155], [21747316, 21747453], [21750170, 21750321], [21751329, 21751478], [21757392, 21757543], [21760342, 21760474], [21765428, 21765602], [21775257, 21775462], [21778318, 21778484], [21779188, 21779291], [21781544, 21781784], [21784055, 21784217], [21784487, 21784681], [21788197, 21788360], [21789295, 21789419], [21789839, 21789982], [21805045, 21805207], [21813383, 21813617], [21818575, 21818722], [21824044, 21824158], [21826241, 21826385], [21827018, 21827201], [21828858, 21828960], [21840754, 21840893], [21847500, 21847667], [21856084, 21856320], [21857834, 21857957], [21882161, 21882366], [21892084, 21892249], [21893932, 21894073], [21901470, 21901641], [21904152, 21904275], [21906087, 21906281], [21907476, 21907625], [21908481, 21908609], [21912891, 21913119], [21920319, 21920511], [21923908, 21924028], [21932042, 21932285], [21934240, 21934423], [21934501, 21934617], [21938953, 21939066], [21939597, 21939738], [21940624, 21940872]]
ENST00000328843 [[21582832, 21583214], [21584623, 21584767], [21598419, 21598616], [21599220, 21599410], [21600688, 21600788], [21603803, 21604015], [21609686, 21609917], [21611423, 21611591], [21621522, 21621639], [21627681, 21627819], [21628129, 21628254], [21628825, 21629021], [21630535, 21630640], [21630802, 21631195], [21639404, 21639737], [21640293, 21640548], [21640627, 21640797], [21641013, 21641236], [21646043, 21646160], [21646264, 21646351], [21654731, 21654890], [21655826, 21655925], [21657236, 21657395], [21658717, 21658840], [21659573, 21659696], [21675488, 21675713], [21677228, 21677320], [21678556, 21678683], [21695449, 21695599], [21698415, 21698649], [21721163, 21721295], [21721296, 21721302], [21723401, 21723562], [21726716, 21726873], [21726999, 21727145], [21730382, 21730499], [21737692, 21737831], [21742327, 21742420], [21744051, 21744246], [21745077, 21745155], [21747316, 21747453], [21750170, 21750321], [21751329, 21751478], [21757392, 21757543], [21760342, 21760474], [21765428, 21765602], [21775257, 21775462], [21778318, 21778484], [21779188, 21779291], [21781544, 21781784], [21784055, 21784217], [21784487, 21784681], [21788197, 21788360], [21789295, 21789419], [21789839, 21789982], [21805045, 21805207], [21813383, 21813617], [21818575, 21818722], [21824044, 21824158], [21826241, 21826385], [21827018, 21827201], [21828858, 21828960], [21840754, 21840893], [21847500, 21847667], [21856084, 21856320], [21857834, 21857957], [21882161, 21882366], [21892084, 21892249], [21893932, 21894073], [21901470, 21901641], [21904152, 21904275], [21906087, 21906281], [21907476, 21907625], [21908481, 21908609], [21912891, 21913119], [21920319, 21920511], [21923908, 21924028], [21932042, 21932285], [21934240, 21934423], [21934501, 21934617], [21938953, 21939066], [21939597, 21939738], [21940624, 21941457]] [[21582863, 21583214], [21584623, 21584767], [21598419, 21598616], [21599220, 21599410], [21600688, 21600788], [21603803, 21604015], [21609686, 21609917], [21611423, 21611591], [21621522, 21621639], [21627681, 21627819], [21628129, 21628254], [21628825, 21629021], [21630535, 21630640], [21630802, 21631195], [21639404, 21639737], [21640293, 21640548], [21640627, 21640797], [21641013, 21641236], [21646043, 21646160], [21646264, 21646351], [21654731, 21654890], [21655826, 21655925], [21657236, 21657395], [21658717, 21658840], [21659573, 21659696], [21675488, 21675713], [21677228, 21677320], [21678556, 21678683], [21695449, 21695599], [21698415, 21698649], [21721163, 21721295], [21721296, 21721302], [21723401, 21723562], [21726716, 21726873], [21726999, 21727145], [21730382, 21730499], [21737692, 21737831], [21742327, 21742420], [21744051, 21744246], [21745077, 21745155], [21747316, 21747453], [21750170, 21750321], [21751329, 21751478], [21757392, 21757543], [21760342, 21760474], [21765428, 21765602], [21775257, 21775462], [21778318, 21778484], [21779188, 21779291], [21781544, 21781784], [21784055, 21784217], [21784487, 21784681], [21788197, 21788360], [21789295, 21789419], [21789839, 21789982], [21805045, 21805207], [21813383, 21813617], [21818575, 21818722], [21824044, 21824158], [21826241, 21826385], [21827018, 21827201], [21828858, 21828960], [21840754, 21840893], [21847500, 21847667], [21856084, 21856320], [21857834, 21857957], [21882161, 21882366], [21892084, 21892249], [21893932, 21894073], [21901470, 21901641], [21904152, 21904275], [21906087, 21906281], [21907476, 21907625], [21908481, 21908609], [21912891, 21913119], [21920319, 21920511], [21923908, 21924028], [21932042, 21932285], [21934240, 21934423], [21934501, 21934617], [21938953, 21939066], [21939597, 21939738], [21940624, 21940872]]
ENST00000607050 [[21583063, 21583404], [21584623, 21584767]] None
ENST00000483691 [[21599332, 21599410], [21600688, 21601064]] None
ENST00000496218 [[21600708, 21600788], [21609686, 21610334]] None
ENST00000465593 [[21657811, 21658091], [21658717, 21658840], [21659573, 21659696], [21675488, 21675696]] None
ENST00000465129 [[21742327, 21742420], [21743066, 21743391]] None
ENST00000605912 [[21775257, 21775462], [21778318, 21778484], [21779188, 21779291], [21784487, 21784537]] [[21775257, 21775462], [21778318, 21778484], [21779188, 21779291], [21784487, 21784537]]
ENST00000607413 [[21890779, 21890938], [21892084, 21892249], [21893932, 21894073], [21901470, 21901588]] [[21890932, 21890938], [21892084, 21892249], [21893932, 21894073], [21901470, 21901588]]
ENST00000421290 [[21891180, 21891259], [21892084, 21892249], [21893932, 21894073], [21901470, 21901629]] None
ENST00000479878 [[21932242, 21932285], [21934240, 21934617], [21938953, 21939066], [21939597, 21939738], [21940624, 21940734]] None
NM_001277115 [[21582832, 21583214], [21584623, 21584767], [21598419, 21598616], [21599220, 21599410], [21600688, 21600788], [21603803, 21604015], [21609686, 21609917], [21611423, 21611591], [21621522, 21621639], [21627681, 21627819], [21628129, 21628254], [21628825, 21629021], [21630535, 21630640], [21630802, 21631195], [21639404, 21639737], [21640293, 21640548], [21640627, 21640797], [21641013, 21641236], [21646043, 21646160], [21646264, 21646351], [21654731, 21654890], [21655826, 21655910], [21657236, 21657395], [21658717, 21658840], [21659573, 21659696], [21675488, 21675713], [21677228, 21677320], [21678556, 21678683], [21695449, 21695599], [21698415, 21698649], [21721163, 21721295], [21723401, 21723562], [21726716, 21726873], [21726999, 21727145], [21730382, 21730499], [21737692, 21737831], [21742327, 21742420], [21744051, 21744246], [21745077, 21745155], [21747316, 21747453], [21750170, 21750321], [21751329, 21751478], [21757392, 21757543], [21760342, 21760474], [21765428, 21765602], [21775257, 21775462], [21778318, 21778484], [21779188, 21779291], [21781544, 21781784], [21784055, 21784217], [21784487, 21784681], [21788197, 21788360], [21789295, 21789419], [21789839, 21789982], [21805045, 21805207], [21813383, 21813617], [21818575, 21818722], [21824044, 21824158], [21826241, 21826385], [21827018, 21827201], [21828858, 21828960], [21840754, 21840893], [21847500, 21847667], [21856084, 21856320], [21857834, 21857957], [21882161, 21882366], [21892084, 21892249], [21893932, 21894073], [21901470, 21901641], [21904152, 21904275], [21906087, 21906281], [21907476, 21907625], [21908481, 21908609], [21912891, 21913119], [21920319, 21920511], [21923908, 21924028], [21932042, 21932285], [21934240, 21934423], [21934501, 21934617], [21938953, 21939066], [21939597, 21939738], [21940624, 21941186]] [[21582863, 21583214], [21584623, 21584767], [21598419, 21598616], [21599220, 21599410], [21600688, 21600788], [21603803, 21604015], [21609686, 21609917], [21611423, 21611591], [21621522, 21621639], [21627681, 21627819], [21628129, 21628254], [21628825, 21629021], [21630535, 21630640], [21630802, 21631195], [21639404, 21639737], [21640293, 21640548], [21640627, 21640797], [21641013, 21641236], [21646043, 21646160], [21646264, 21646351], [21654731, 21654890], [21655826, 21655910], [21657236, 21657395], [21658717, 21658840], [21659573, 21659696], [21675488, 21675713], [21677228, 21677320], [21678556, 21678683], [21695449, 21695599], [21698415, 21698649], [21721163, 21721295], [21723401, 21723562], [21726716, 21726873], [21726999, 21727145], [21730382, 21730499], [21737692, 21737831], [21742327, 21742420], [21744051, 21744246], [21745077, 21745155], [21747316, 21747453], [21750170, 21750321], [21751329, 21751478], [21757392, 21757543], [21760342, 21760474], [21765428, 21765602], [21775257, 21775462], [21778318, 21778484], [21779188, 21779291], [21781544, 21781784], [21784055, 21784217], [21784487, 21784681], [21788197, 21788360], [21789295, 21789419], [21789839, 21789982], [21805045, 21805207], [21813383, 21813617], [21818575, 21818722], [21824044, 21824158], [21826241, 21826385], [21827018, 21827201], [21828858, 21828960], [21840754, 21840893], [21847500, 21847667], [21856084, 21856320], [21857834, 21857957], [21882161, 21882366], [21892084, 21892249], [21893932, 21894073], [21901470, 21901641], [21904152, 21904275], [21906087, 21906281], [21907476, 21907625], [21908481, 21908609], [21912891, 21913119], [21920319, 21920511], [21923908, 21924028], [21932042, 21932285], [21934240, 21934423], [21934501, 21934617], [21938953, 21939066], [21939597, 21939738], [21940624, 21940872]]
Promoter
Chrom Start End Description
chr7 21582638 21582685 CAGE_peak_1_at_DNAH11_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I021542 21542718 21544028 0.93 [{'connected_gene': 'DNAH11', 'score': 575.12}, {'connected_gene': 'LOC105375183', 'score': 0.29}]
chr7 GH07I021551 21551223 21551392 0.52 [{'connected_gene': 'DNAH11', 'score': 0.44}, {'connected_gene': 'LOC105375183', 'score': 0.31}]
chr7 GH07I021579 21579802 21580965 0.88 [{'connected_gene': 'DNAH11', 'score': 13.05}, {'connected_gene': 'LOC105375183', 'score': 0.77}, {'connected_gene': 'GC07P021597', 'score': 0.37}]
chr7 GH07I021514 21514165 21514389 0.76 [{'connected_gene': 'DNAH11', 'score': 11.98}, {'connected_gene': 'MIR1183', 'score': 11.39}, {'connected_gene': 'GC07P021511', 'score': 0.77}, {'connected_gene': 'SP4', 'score': 0.17}]
chr7 GH07I021642 21642488 21643312 0.52 [{'connected_gene': 'DNAH11', 'score': 4.87}, {'connected_gene': 'GC07P021597', 'score': 0.25}, {'connected_gene': 'PIR48952', 'score': 0.06}]
chr7 GH07I021616 21616409 21619303 1.15 [{'connected_gene': 'DNAH11', 'score': 22.32}, {'connected_gene': 'GC07P021597', 'score': 0.34}, {'connected_gene': 'PIR48952', 'score': 0.06}]
chr7 GH07I021868 21868135 21869269 0.46 [{'connected_gene': 'CDCA7L', 'score': 9.6}, {'connected_gene': 'PIR48952', 'score': 0.26}, {'connected_gene': 'GC07P021597', 'score': 0.06}, {'connected_gene': 'DNAH11', 'score': 0.05}]
chr7 GH07I021869 21869523 21870626 0.56 [{'connected_gene': 'CDCA7L', 'score': 6.75}, {'connected_gene': 'PIR48952', 'score': 0.26}, {'connected_gene': 'GC07P021597', 'score': 0.06}, {'connected_gene': 'DNAH11', 'score': 0.05}]
chr7 GH07I021897 21897571 21899367 1.07 [{'connected_gene': 'CDCA7L', 'score': 6.98}, {'connected_gene': 'PIR48952', 'score': 0.39}, {'connected_gene': 'GC07P021597', 'score': 0.06}, {'connected_gene': 'DNAH11', 'score': 0.05}]
chr7 GH07I021867 21867923 21868132 0.31 [{'connected_gene': 'CDCA7L', 'score': 4.47}, {'connected_gene': 'PIR48952', 'score': 0.26}, {'connected_gene': 'GC07P021597', 'score': 0.06}, {'connected_gene': 'DNAH11', 'score': 0.05}]
chr7 GH07I021771 21771752 21772975 1.52 [{'connected_gene': 'CDCA7L', 'score': 10.28}, {'connected_gene': 'LOC100506178', 'score': 4.63}, {'connected_gene': 'PIR48952', 'score': 0.12}, {'connected_gene': 'GC07P021597', 'score': 0.09}, {'connected_gene': 'DNAH11', 'score': 0.07}]
chr7 GH07I021691 21691201 21691600 0.2 [{'connected_gene': 'GC07P021597', 'score': 0.16}, {'connected_gene': 'DNAH11', 'score': 0.11}, {'connected_gene': 'PIR48952', 'score': 0.08}]
chr7 GH07I021805 21805858 21806112 0.4 [{'connected_gene': 'PIR48952', 'score': 0.15}, {'connected_gene': 'GC07P021597', 'score': 0.08}, {'connected_gene': 'DNAH11', 'score': 0.07}]
chr7 GH07I021775 21775803 21775912 0.2 [{'connected_gene': 'PIR48952', 'score': 0.12}, {'connected_gene': 'GC07P021597', 'score': 0.1}, {'connected_gene': 'DNAH11', 'score': 0.07}]
chr7 GH07I021779 21779165 21779378 0.4 [{'connected_gene': 'PIR48952', 'score': 0.12}, {'connected_gene': 'GC07P021597', 'score': 0.09}, {'connected_gene': 'DNAH11', 'score': 0.07}]
chr7 GH07I021767 21767423 21767592 0.68 [{'connected_gene': 'PIR48952', 'score': 0.11}, {'connected_gene': 'GC07P021597', 'score': 0.1}, {'connected_gene': 'DNAH11', 'score': 0.07}]
chr7 GH07I021851 21851261 21852272 0.31 [{'connected_gene': 'PIR48952', 'score': 0.22}, {'connected_gene': 'GC07P021597', 'score': 0.07}, {'connected_gene': 'DNAH11', 'score': 0.06}]
chr7 GH07I021881 21881142 21881433 0.4 [{'connected_gene': 'PIR48952', 'score': 0.31}, {'connected_gene': 'GC07P021597', 'score': 0.06}, {'connected_gene': 'DNAH11', 'score': 0.05}]

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