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
ENST00000595838 [[8645125, 8645886], [8649778, 8649938], [8650015, 8650192], [8650339, 8650544], [8651005, 8651135], [8651227, 8651354], [8651441, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654458], [8654772, 8654875], [8656683, 8656747], [8656841, 8657080]] [[8645776, 8645886], [8649778, 8649938], [8650015, 8650192], [8650339, 8650544], [8651005, 8651135], [8651227, 8651354], [8651441, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654458], [8654772, 8654875], [8656683, 8656747], [8656841, 8657046]]
ENST00000270328 [[8645125, 8645886], [8649778, 8649938], [8650015, 8650192], [8650339, 8650544], [8651005, 8651135], [8651227, 8651354], [8651441, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654469], [8654772, 8654875], [8656683, 8656747], [8656841, 8656987], [8657646, 8657754], [8660645, 8660787], [8660956, 8661103], [8661190, 8661296], [8661425, 8661469], [8661870, 8662016], [8662117, 8662201], [8665811, 8666029], [8668611, 8668768], [8669896, 8670243], [8670507, 8670694], [8673015, 8673183]] [[8645776, 8645886], [8649778, 8649938], [8650015, 8650192], [8650339, 8650544], [8651005, 8651135], [8651227, 8651354], [8651441, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654469], [8654772, 8654875], [8656683, 8656747], [8656841, 8656987], [8657646, 8657754], [8660645, 8660787], [8660956, 8661103], [8661190, 8661296], [8661425, 8661469], [8661870, 8662016], [8662117, 8662201], [8665811, 8666029], [8668611, 8668768], [8669896, 8670243], [8670507, 8670595]]
ENST00000593913 [[8645571, 8645886], [8649778, 8649938], [8650015, 8650192], [8650339, 8650544], [8651005, 8651135], [8651227, 8651354], [8651441, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654469], [8654772, 8654875], [8656683, 8656747], [8656841, 8656987], [8657646, 8657754], [8660656, 8660787], [8660956, 8661103], [8661967, 8662016], [8662117, 8662206], [8665811, 8666029], [8668611, 8668768], [8669896, 8670243], [8670507, 8670664]] [[8662146, 8662206], [8665811, 8666029], [8668611, 8668768], [8669896, 8670243], [8670507, 8670595]]
ENST00000597188 [[8645610, 8645886], [8649778, 8649938], [8650015, 8650192], [8650339, 8650544], [8651005, 8651135], [8651227, 8651354], [8651441, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654469], [8654772, 8654875], [8656683, 8656747], [8656841, 8656987], [8657646, 8657754], [8660645, 8660787], [8660956, 8661103], [8661190, 8661296], [8661425, 8661469], [8661870, 8662016], [8662117, 8662201], [8665811, 8666029], [8668611, 8668768], [8669896, 8670243], [8670507, 8670694], [8673015, 8673130], [8675528, 8675585]] [[8645776, 8645886], [8649778, 8649938], [8650015, 8650192], [8650339, 8650544], [8651005, 8651135], [8651227, 8651354], [8651441, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654469], [8654772, 8654875], [8656683, 8656747], [8656841, 8656987], [8657646, 8657754], [8660645, 8660787], [8660956, 8661103], [8661190, 8661296], [8661425, 8661469], [8661870, 8662016], [8662117, 8662201], [8665811, 8666029], [8668611, 8668768], [8669896, 8670243], [8670507, 8670595]]
ENST00000596851 [[8649846, 8649938], [8650015, 8650544], [8651005, 8651135], [8651227, 8651354], [8651441, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654469], [8654772, 8654875], [8656683, 8656747], [8656841, 8656987], [8657646, 8657754], [8660645, 8660787], [8660956, 8661103], [8661190, 8661296], [8661425, 8661469], [8661870, 8662016], [8662117, 8662206], [8665811, 8666029], [8668611, 8668768], [8669896, 8670243], [8670507, 8670694], [8675528, 8675566]] [[8662146, 8662206], [8665811, 8666029], [8668611, 8668768], [8669896, 8670243], [8670507, 8670595]]
ENST00000596911 [[8651505, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654575]] None
ENST00000593826 [[8651539, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654469], [8654772, 8654875], [8656683, 8656747], [8656841, 8657100]] [[8654460, 8654469], [8654772, 8654875], [8656683, 8656747], [8656841, 8657046]]
ENST00000596236 [[8654684, 8654875], [8656683, 8656747], [8656841, 8657058]] None
ENST00000603221 [[8654824, 8654875], [8656683, 8656747], [8656841, 8656987], [8657646, 8658400]] None
ENST00000601163 [[8656683, 8656747], [8656841, 8656987], [8657646, 8657754], [8660645, 8660787], [8660956, 8661296], [8661425, 8661469], [8661870, 8662016], [8662117, 8662206]] None
ENST00000601872 [[8660496, 8660787], [8660956, 8661241]] None
ENST00000596709 [[8662120, 8662206], [8665811, 8666029], [8668611, 8668768], [8669896, 8670243], [8673015, 8673130], [8675528, 8675585]] None
ENST00000596466 [[8662129, 8662206], [8665811, 8666029], [8668611, 8668768], [8669896, 8670243], [8675528, 8675565]] None
ENST00000593534 [[8669820, 8670243], [8673015, 8673130], [8675528, 8675620]] None
NM_001282352 [[8645123, 8645886], [8649778, 8649938], [8650015, 8650192], [8650339, 8650544], [8651005, 8651135], [8651227, 8651354], [8651441, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654458], [8654772, 8654875], [8656683, 8656747], [8656841, 8657080]] [[8645776, 8645886], [8649778, 8649938], [8650015, 8650192], [8650339, 8650544], [8651005, 8651135], [8651227, 8651354], [8651441, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654458], [8654772, 8654875], [8656683, 8656747], [8656841, 8657046]]
NM_030957 [[8645123, 8645886], [8649778, 8649938], [8650015, 8650192], [8650339, 8650544], [8651005, 8651135], [8651227, 8651354], [8651441, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654469], [8654772, 8654875], [8656683, 8656747], [8656841, 8656987], [8657646, 8657754], [8660645, 8660787], [8660956, 8661103], [8661190, 8661296], [8661425, 8661469], [8661870, 8662016], [8662117, 8662201], [8665811, 8666029], [8668611, 8668768], [8669896, 8670243], [8670507, 8670694], [8673015, 8673130], [8675528, 8675620]] [[8645776, 8645886], [8649778, 8649938], [8650015, 8650192], [8650339, 8650544], [8651005, 8651135], [8651227, 8651354], [8651441, 8651605], [8651699, 8651780], [8654125, 8654249], [8654335, 8654469], [8654772, 8654875], [8656683, 8656747], [8656841, 8656987], [8657646, 8657754], [8660645, 8660787], [8660956, 8661103], [8661190, 8661296], [8661425, 8661469], [8661870, 8662016], [8662117, 8662201], [8665811, 8666029], [8668611, 8668768], [8669896, 8670243], [8670507, 8670595]]
Promoter
Chrom Start End Description
chr19 8675559 8675612 CAGE_peak_1_at_ADAMTS10_5end
chr19 8675642 8675653 CAGE_peak_2_at_ADAMTS10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I008608 8608458 8613134 2.3 [{'connected_gene': 'ADAMTS10', 'score': 562.88}, {'connected_gene': 'GC19P008612', 'score': 550.77}, {'connected_gene': 'ZNF266', 'score': 41.89}, {'connected_gene': 'ZNF699', 'score': 40.26}, {'connected_gene': 'ZNF317', 'score': 33.27}, {'connected_gene': 'XAB2', 'score': 33.14}, {'connected_gene': 'ZNF558', 'score': 32.84}, {'connected_gene': 'ZNF559', 'score': 31.21}, {'connected_gene': 'HNRNPM', 'score': 27.85}, {'connected_gene': 'ZNF177', 'score': 23.84}, {'connected_gene': 'ELAVL1', 'score': 21.87}, {'connected_gene': 'ZNF414', 'score': 19.04}, {'connected_gene': 'ENSG00000267510', 'score': 12.59}, {'connected_gene': 'ZNF426', 'score': 10.56}, {'connected_gene': 'MAP2K7', 'score': 10.51}]
chr19 GH19I008591 8591822 8593307 1.83 [{'connected_gene': 'ADAMTS10', 'score': 550.37}, {'connected_gene': 'ENSG00000267986', 'score': 9.75}]
chr19 GH19I008524 8524940 8527338 1.73 [{'connected_gene': 'HNRNPM', 'score': 61.65}, {'connected_gene': 'ELAVL1', 'score': 56.28}, {'connected_gene': 'ZNF558', 'score': 55.35}, {'connected_gene': 'ZNF699', 'score': 54.83}, {'connected_gene': 'ZNF317', 'score': 45.14}, {'connected_gene': 'ZNF266', 'score': 44.62}, {'connected_gene': 'ZNF559', 'score': 35.9}, {'connected_gene': 'XAB2', 'score': 33.73}, {'connected_gene': 'ZNF414', 'score': 29.41}, {'connected_gene': 'ENSG00000269300', 'score': 23.74}, {'connected_gene': 'MYO1F', 'score': 20.4}, {'connected_gene': 'MAP2K7', 'score': 20.29}, {'connected_gene': 'LOC100128428', 'score': 11.79}, {'connected_gene': 'ADAMTS10', 'score': 11.59}, {'connected_gene': 'RPS28', 'score': 4.91}, {'connected_gene': 'ENSG00000268618', 'score': 0.34}]
chr19 GH19I008531 8531986 8532905 0.43 [{'connected_gene': 'MYO1F', 'score': 20.64}, {'connected_gene': 'ADAMTS10', 'score': 11.6}, {'connected_gene': 'ZNF414', 'score': 0.37}, {'connected_gene': 'ENSG00000268618', 'score': 0.37}]
chr19 GH19I008637 8637801 8641251 1.37 [{'connected_gene': 'MYO1F', 'score': 31.26}, {'connected_gene': 'ADAMTS10', 'score': 12.1}, {'connected_gene': 'ACTL9', 'score': 11.65}, {'connected_gene': 'PRAM1', 'score': 5.76}, {'connected_gene': 'LOC100128428', 'score': 4.78}, {'connected_gene': 'LINC01862', 'score': 0.44}, {'connected_gene': 'ENSG00000261866', 'score': 0.28}, {'connected_gene': 'GC19P008677', 'score': 0.28}]
chr19 GH19I008663 8663816 8665004 0.8 [{'connected_gene': 'ACTL9', 'score': 12.92}, {'connected_gene': 'ADAMTS10', 'score': 11.32}, {'connected_gene': 'ZNF559', 'score': 4.2}, {'connected_gene': 'ENSG00000261866', 'score': 0.39}, {'connected_gene': 'GC19P008677', 'score': 0.39}, {'connected_gene': 'LINC01862', 'score': 0.29}]
chr19 GH19I008665 8665781 8667231 0.46 [{'connected_gene': 'ACTL9', 'score': 12.92}, {'connected_gene': 'ADAMTS10', 'score': 11.31}, {'connected_gene': 'ENSG00000261866', 'score': 0.39}, {'connected_gene': 'GC19P008677', 'score': 0.39}, {'connected_gene': 'LINC01862', 'score': 0.28}]
chr19 GH19I008586 8586017 8586186 0.83 [{'connected_gene': 'ZNF266', 'score': 20.84}, {'connected_gene': 'XAB2', 'score': 15.48}, {'connected_gene': 'ZNF699', 'score': 15.16}, {'connected_gene': 'HNRNPM', 'score': 14.2}, {'connected_gene': 'ZNF558', 'score': 14.17}, {'connected_gene': 'ZNF559', 'score': 12.53}, {'connected_gene': 'ZNF317', 'score': 12.26}, {'connected_gene': 'ELAVL1', 'score': 10.45}, {'connected_gene': 'ZNF426', 'score': 10.37}, {'connected_gene': 'ENSG00000267986', 'score': 0.77}, {'connected_gene': 'ADAMTS10', 'score': 0.34}]
chr19 GH19I008580 8580401 8581251 1.11 [{'connected_gene': 'ENSG00000267986', 'score': 550.77}, {'connected_gene': 'MYO1F', 'score': 0.77}, {'connected_gene': 'ADAMTS10', 'score': 0.31}]