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
ENST00000356711 [[109248499, 109248587], [109318233, 109318497], [109365008, 109365079], [109379787, 109379931], [109437982, 109438091], [109445863, 109445988], [109459026, 109459152], [109472684, 109472760], [109475472, 109475626], [109496690, 109496841], [109507790, 109507901], [109518524, 109518590], [109535406, 109535534], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109704647, 109704823], [109707393, 109707474], [109707737, 109707943], [109753132, 109753235], [109772717, 109772814], [109777459, 109777706], [109779629, 109779898], [109792611, 109793724], [109817248, 109817407], [109831889, 109831981], [109858956, 109860355]] [[109318271, 109318497], [109365008, 109365079], [109379787, 109379931], [109437982, 109438091], [109445863, 109445988], [109459026, 109459152], [109472684, 109472760], [109475472, 109475626], [109496690, 109496841], [109507790, 109507901], [109518524, 109518590], [109535406, 109535534], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109704647, 109704823], [109707393, 109707474], [109707737, 109707943], [109753132, 109753235], [109772717, 109772814], [109777459, 109777706], [109779629, 109779898], [109792611, 109793724], [109817248, 109817407], [109831889, 109831981], [109858956, 109859184]]
ENST00000251041 [[109318230, 109318497], [109365008, 109365079], [109379787, 109379931], [109437982, 109438091], [109445863, 109445988], [109459026, 109459152], [109472684, 109472760], [109475472, 109475626], [109496690, 109496841], [109507790, 109507901], [109518524, 109518590], [109535406, 109535534], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109700685, 109701330]] [[109318271, 109318497], [109365008, 109365079], [109379787, 109379931], [109437982, 109438091], [109445863, 109445988], [109459026, 109459152], [109472684, 109472760], [109475472, 109475626], [109496690, 109496841], [109507790, 109507901], [109518524, 109518590], [109535406, 109535534], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109700685, 109700702]]
ENST00000357550 [[109318230, 109318497], [109365008, 109365079], [109379787, 109379931], [109437982, 109438091], [109445863, 109445988], [109459026, 109459152], [109472684, 109472760], [109475472, 109475626], [109496690, 109496841], [109507790, 109507901], [109518524, 109518590], [109535406, 109535534], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109704647, 109704823], [109707393, 109707474], [109707737, 109707943], [109753132, 109753235], [109772717, 109772814], [109777459, 109777706], [109779629, 109779898], [109792611, 109793724], [109817248, 109817407], [109831889, 109831981], [109858956, 109860341]] [[109318271, 109318497], [109365008, 109365079], [109379787, 109379931], [109437982, 109438091], [109445863, 109445988], [109459026, 109459152], [109472684, 109472760], [109475472, 109475626], [109496690, 109496841], [109507790, 109507901], [109518524, 109518590], [109535406, 109535534], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109704647, 109704823], [109707393, 109707474], [109707737, 109707943], [109753132, 109753235], [109772717, 109772814], [109777459, 109777706], [109779629, 109779898], [109792611, 109793724], [109817248, 109817407], [109831889, 109831981], [109858956, 109859184]]
ENST00000375857 [[109445927, 109445988], [109459026, 109459152], [109472684, 109472760], [109475472, 109475626], [109496690, 109496841], [109507790, 109507901], [109518524, 109518590], [109535406, 109535534], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109704647, 109704823], [109707393, 109707474], [109707737, 109708405]] None
ENST00000457511 [[109538516, 109538810], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109704647, 109704823], [109707393, 109707474], [109707737, 109707943], [109753132, 109753235], [109772717, 109772814], [109777459, 109777706], [109779629, 109780039]] [[109538787, 109538810], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109704647, 109704823], [109707393, 109707474], [109707737, 109707943], [109753132, 109753235], [109772717, 109772814], [109777459, 109777706], [109779629, 109779951]]
ENST00000467639 [[109431889, 109432400], [109437982, 109438088]] None
ENST00000482793 [[109507643, 109507707], [109507790, 109507901], [109518524, 109518590], [109535406, 109535534], [109540719, 109540825]] None
NM_015011 [[109248499, 109248587], [109318233, 109318497], [109365008, 109365079], [109379787, 109379931], [109437982, 109438091], [109445863, 109445988], [109459026, 109459152], [109472684, 109472760], [109475472, 109475626], [109496690, 109496841], [109507790, 109507901], [109518524, 109518590], [109535406, 109535534], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109704647, 109704823], [109707393, 109707474], [109707737, 109707943], [109753132, 109753235], [109772717, 109772814], [109777459, 109777706], [109779629, 109779898], [109792611, 109793724], [109817248, 109817407], [109831889, 109831981], [109858956, 109860355]] [[109318271, 109318497], [109365008, 109365079], [109379787, 109379931], [109437982, 109438091], [109445863, 109445988], [109459026, 109459152], [109472684, 109472760], [109475472, 109475626], [109496690, 109496841], [109507790, 109507901], [109518524, 109518590], [109535406, 109535534], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109704647, 109704823], [109707393, 109707474], [109707737, 109707943], [109753132, 109753235], [109772717, 109772814], [109777459, 109777706], [109779629, 109779898], [109792611, 109793724], [109817248, 109817407], [109831889, 109831981], [109858956, 109859184]]
NM_001198950 [[109281570, 109282220], [109318233, 109318497], [109365008, 109365079], [109379787, 109379931], [109437982, 109438091], [109445863, 109445988], [109459026, 109459152], [109472684, 109472760], [109475472, 109475626], [109496690, 109496841], [109507790, 109507901], [109518524, 109518590], [109535406, 109535534], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109704647, 109704823], [109707393, 109707474], [109707737, 109707943], [109753132, 109753235], [109772717, 109772814], [109777459, 109777706], [109779629, 109779898], [109792611, 109793724], [109817248, 109817407], [109831889, 109831981], [109858956, 109860355]] [[109282192, 109282220], [109318233, 109318497], [109365008, 109365079], [109379787, 109379931], [109437982, 109438091], [109445863, 109445988], [109459026, 109459152], [109472684, 109472760], [109475472, 109475626], [109496690, 109496841], [109507790, 109507901], [109518524, 109518590], [109535406, 109535534], [109540719, 109540825], [109550363, 109550481], [109562350, 109562498], [109610035, 109610147], [109613886, 109614004], [109614771, 109614843], [109617108, 109617250], [109644723, 109644796], [109661244, 109661397], [109672058, 109672259], [109699263, 109699339], [109704647, 109704823], [109707393, 109707474], [109707737, 109707943], [109753132, 109753235], [109772717, 109772814], [109777459, 109777706], [109779629, 109779898], [109792611, 109793724], [109817248, 109817407], [109831889, 109831981], [109858956, 109859184]]
Promoter
Chrom Start End Description
chr13 109248066 109248073 CAGE_peak_6_at_MYO16_5end
chr13 109248250 109248253 CAGE_peak_13_at_MYO16_5end
chr13 109248291 109248311 CAGE_peak_10_at_MYO16_5end
chr13 109248336 109248343 CAGE_peak_7_at_MYO16_5end
chr13 109248512 109248524 CAGE_peak_5_at_MYO16_5end
chr13 109281940 109281948 CAGE_peak_11_at_MYO16_5end
chr13 109281953 109281967 CAGE_peak_1_at_MYO16_5end
chr13 109281972 109281975 CAGE_peak_16_at_MYO16_5end
chr13 109281990 109282005 CAGE_peak_2_at_MYO16_5end
chr13 109282019 109282027 CAGE_peak_9_at_MYO16_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I109145 109145132 109149614 1.12 [{'connected_gene': 'IRS2', 'score': 11.01}, {'connected_gene': 'MYO16', 'score': 5.52}, {'connected_gene': 'LOC105370356', 'score': 0.77}, {'connected_gene': 'MYO16-AS2', 'score': 0.25}]
chr13 GH13I109153 109153439 109162770 1.56 [{'connected_gene': 'IRS2', 'score': 11.01}, {'connected_gene': 'MYO16-AS1', 'score': 7.72}, {'connected_gene': 'MYO16', 'score': 6.25}, {'connected_gene': 'LOC105370356', 'score': 0.44}]
chr13 GH13I108919 108919390 108920342 1 [{'connected_gene': 'MYO16', 'score': 1.29}, {'connected_gene': 'GC13P108973', 'score': 0.23}, {'connected_gene': 'GC13M108717', 'score': 0.09}]
chr13 GH13I108914 108914421 108919319 1.52 [{'connected_gene': 'MYO16', 'score': 4.64}, {'connected_gene': 'GC13P108973', 'score': 0.22}, {'connected_gene': 'GC13M108717', 'score': 0.1}]
chr13 GH13I108497 108496153 108496362 0.43 [{'connected_gene': 'MYO16', 'score': 550.77}, {'connected_gene': 'GC13M108703', 'score': 0.08}]
chr13 GH13I108620 108620442 108620763 0.24 [{'connected_gene': 'MYO16', 'score': 14.47}, {'connected_gene': 'GC13M108703', 'score': 0.17}]
chr13 GH13I108596 108596121 108596180 0.76 [{'connected_gene': 'MYO16', 'score': 550.15}, {'connected_gene': 'GC13M108703', 'score': 0.14}]
chr13 GH13I108496 108496773 108496922 0.38 [{'connected_gene': 'MYO16', 'score': 550.77}, {'connected_gene': 'GC13M108703', 'score': 0.08}]
chr13 GH13I108629 108629758 108629817 0.61 [{'connected_gene': 'MYO16', 'score': 550.12}, {'connected_gene': 'GC13M108703', 'score': 0.18}]
chr13 GH13I109150 109150774 109152724 0.58 [{'connected_gene': 'LOC105370356', 'score': 550.77}, {'connected_gene': 'MYO16', 'score': 6.21}, {'connected_gene': 'MYO16-AS1', 'score': 0.25}]
chr13 GH13I109154 109153053 109153202 0.2 [{'connected_gene': 'LOC105370356', 'score': 0.77}, {'connected_gene': 'MYO16-AS1', 'score': 0.25}, {'connected_gene': 'MYO16', 'score': 0.03}]
chr13 GH13I109131 109131126 109132374 0.84 [{'connected_gene': 'LOC105370356', 'score': 0.37}, {'connected_gene': 'MYO16-AS2', 'score': 0.31}, {'connected_gene': 'MYO16', 'score': 0.03}]
chr13 GH13I109199 109199353 109199482 0.38 [{'connected_gene': 'MYO16-AS1', 'score': 0.77}, {'connected_gene': 'LOC105370356', 'score': 0.25}, {'connected_gene': 'MYO16', 'score': 0.03}]
chr13 GH13I109180 109180701 109181902 0.43 [{'connected_gene': 'MYO16-AS1', 'score': 9.09}, {'connected_gene': 'LOC105370356', 'score': 0.29}, {'connected_gene': 'MYO16', 'score': 0.03}]
chr13 GH13I108963 108963782 108965355 0.31 [{'connected_gene': 'GC13P108973', 'score': 0.44}, {'connected_gene': 'GC13M108717', 'score': 0.07}, {'connected_gene': 'MYO16', 'score': 0.04}]
chr13 GH13I108961 108961633 108961802 0.73 [{'connected_gene': 'GC13P108973', 'score': 0.39}, {'connected_gene': 'GC13M108717', 'score': 0.07}, {'connected_gene': 'MYO16', 'score': 0.04}]
chr13 GH13I108911 108911490 108912288 0.59 [{'connected_gene': 'GC13P108973', 'score': 0.21}, {'connected_gene': 'GC13M108717', 'score': 0.09}, {'connected_gene': 'MYO16', 'score': 0.05}]
chr13 GH13I108742 108742694 108743037 0.2 [{'connected_gene': 'GC13M108717', 'score': 0.77}, {'connected_gene': 'GC13P108973', 'score': 0.07}, {'connected_gene': 'MYO16', 'score': 0.07}]
chr13 GH13I108777 108777414 108778679 0.57 [{'connected_gene': 'GC13M108717', 'score': 0.28}, {'connected_gene': 'GC13P108973', 'score': 0.08}, {'connected_gene': 'MYO16', 'score': 0.06}]
chr13 GH13I108940 108940220 108940354 0.29 [{'connected_gene': 'GC13P108973', 'score': 0.29}, {'connected_gene': 'GC13M108717', 'score': 0.08}, {'connected_gene': 'MYO16', 'score': 0.04}]
chr13 GH13I108946 108946833 108948769 0.46 [{'connected_gene': 'GC13P108973', 'score': 0.31}, {'connected_gene': 'GC13M108717', 'score': 0.08}, {'connected_gene': 'MYO16', 'score': 0.05}]
chr13 GH13I108827 108827413 108829219 0.59 [{'connected_gene': 'GC13M108717', 'score': 0.17}, {'connected_gene': 'GC13P108973', 'score': 0.11}, {'connected_gene': 'MYO16', 'score': 0.06}]
chr13 GH13I108741 108741993 108742142 0.2 [{'connected_gene': 'GC13M108717', 'score': 0.77}, {'connected_gene': 'GC13P108973', 'score': 0.07}, {'connected_gene': 'MYO16', 'score': 0.07}]
chr13 GH13I108971 108971434 108973193 0.43 [{'connected_gene': 'GC13P108973', 'score': 550.77}, {'connected_gene': 'GC13M108717', 'score': 0.07}, {'connected_gene': 'MYO16', 'score': 0.04}]
chr13 GH13I108898 108898001 108898200 0.2 [{'connected_gene': 'GC13P108973', 'score': 0.18}, {'connected_gene': 'GC13M108717', 'score': 0.1}, {'connected_gene': 'MYO16', 'score': 0.05}]
chr13 GH13I108858 108858565 108860260 0.46 [{'connected_gene': 'GC13P108973', 'score': 0.14}, {'connected_gene': 'GC13M108717', 'score': 0.13}, {'connected_gene': 'MYO16', 'score': 0.05}]
chr13 GH13I108676 108676675 108676800 0.49 [{'connected_gene': 'GC13M108703', 'score': 0.31}, {'connected_gene': 'MYO16', 'score': 0.09}]
chr13 GH13I108923 108923673 108924683 0.75 [{'connected_gene': 'GC13P108973', 'score': 0.25}, {'connected_gene': 'GC13M108717', 'score': 0.09}, {'connected_gene': 'MYO16', 'score': 0.04}]
chr13 GH13I108728 108728453 108728582 0.46 [{'connected_gene': 'GC13M108717', 'score': 0.39}, {'connected_gene': 'GC13M108703', 'score': 0.34}, {'connected_gene': 'MYO16', 'score': 0.07}]
chr13 GH13I108700 108700133 108701016 0.56 [{'connected_gene': 'GC13M108703', 'score': 0.44}, {'connected_gene': 'MYO16', 'score': 0.08}]
chr13 GH13I108962 108961833 108961982 0.66 [{'connected_gene': 'GC13P108973', 'score': 0.39}, {'connected_gene': 'GC13M108717', 'score': 0.07}, {'connected_gene': 'MYO16', 'score': 0.04}]
chr13 GH13I108834 108834062 108834651 0.31 [{'connected_gene': 'GC13M108717', 'score': 0.16}, {'connected_gene': 'GC13P108973', 'score': 0.12}, {'connected_gene': 'MYO16', 'score': 0.05}]
chr13 GH13I108956 108956941 108958155 0.88 [{'connected_gene': 'GC13P108973', 'score': 0.37}, {'connected_gene': 'GC13M108717', 'score': 0.08}, {'connected_gene': 'MYO16', 'score': 0.04}]
chr13 GH13I108902 108902813 108902962 0.56 [{'connected_gene': 'GC13P108973', 'score': 0.19}, {'connected_gene': 'GC13M108717', 'score': 0.1}, {'connected_gene': 'MYO16', 'score': 0.05}]
chr13 GH13I108944 108944853 108945236 0.81 [{'connected_gene': 'GC13P108973', 'score': 0.31}, {'connected_gene': 'GC13M108717', 'score': 0.08}, {'connected_gene': 'MYO16', 'score': 0.05}]
chr13 GH13I108769 108769107 108770152 0.93 [{'connected_gene': 'GC13M108717', 'score': 0.29}, {'connected_gene': 'GC13P108973', 'score': 0.08}, {'connected_gene': 'MYO16', 'score': 0.06}]
chr13 GH13I108993 108993402 108993825 0.46 [{'connected_gene': 'GC13P108973', 'score': 0.37}, {'connected_gene': 'MYO16-AS2', 'score': 0.14}, {'connected_gene': 'MYO16', 'score': 0.04}]
chr13 GH13I109010 109010616 109011445 0.2 [{'connected_gene': 'GC13P108973', 'score': 0.28}, {'connected_gene': 'MYO16-AS2', 'score': 0.16}, {'connected_gene': 'MYO16', 'score': 0.03}]

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