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
ENST00000261208 [[96366439, 96368150], [96370206, 96370276], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387549, 96387616], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389769], [96389855, 96390143]] [[96368009, 96368150], [96370206, 96370276], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387549, 96387616], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389688]]
ENST00000544080 [[96367407, 96368150], [96370206, 96370276], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389769], [96389855, 96390069]] [[96387246, 96387266], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389688]]
ENST00000541929 [[96367407, 96368150], [96370206, 96370276], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389769], [96389855, 96390069]] [[96368009, 96368150], [96370206, 96370276], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386548]]
ENST00000538703 [[96367624, 96368150], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387549, 96387616], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389769], [96389855, 96390122]] [[96368137, 96368150], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387549, 96387616], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389688]]
ENST00000546999 [[96367857, 96368150], [96370206, 96370276], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374592, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389769], [96389855, 96390003]] [[96387246, 96387266], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389688]]
ENST00000548808 [[96369880, 96370276], [96370375, 96370484], [96371721, 96371856], [96374333, 96374446]] [[96370170, 96370276], [96370375, 96370484], [96371721, 96371856], [96374333, 96374446]]
ENST00000548636 [[96377459, 96377769], [96379685, 96379745]] None
ENST00000552509 [[96380851, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387421, 96387452], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389706]] [[96380851, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387421, 96387452], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389688]]
ENST00000551562 [[96383340, 96383675], [96384170, 96384285]] None
ENST00000549376 [[96384066, 96384310], [96386457, 96386565]] None
ENST00000546579 [[96384282, 96384310], [96386457, 96386583], [96387228, 96387266], [96387549, 96387616], [96387703, 96387776], [96387867, 96387942], [96388575, 96388597], [96388710, 96388978]] [[96384282, 96384310], [96386457, 96386583], [96387228, 96387266], [96387549, 96387616], [96387703, 96387776], [96387867, 96387942], [96388575, 96388597], [96388710, 96388754]]
NM_002108 [[96366439, 96368150], [96370206, 96370276], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387549, 96387616], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389769], [96389855, 96390143]] [[96368009, 96368150], [96370206, 96370276], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387549, 96387616], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389688]]
NM_001258334 [[96366439, 96368150], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387549, 96387616], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389769], [96389855, 96390143]] [[96368137, 96368150], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387549, 96387616], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389688]]
NM_001258333 [[96366439, 96368150], [96370206, 96370276], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386583], [96387228, 96387266], [96387703, 96387776], [96387867, 96387942], [96388575, 96388603], [96388710, 96388771], [96389441, 96389769], [96389855, 96390143]] [[96368009, 96368150], [96370206, 96370276], [96370375, 96370484], [96371721, 96371856], [96374333, 96374499], [96374575, 96374641], [96377688, 96377769], [96379685, 96379744], [96379842, 96379938], [96380844, 96380992], [96381970, 96382018], [96384170, 96384310], [96386457, 96386548]]
Promoter
Chrom Start End Description
chr12 96389702 96389722 CAGE_peak_1_at_HAL_5end
chr12 96390063 96390076 CAGE_peak_3_at_HAL_5end
chr12 96390091 96390105 CAGE_peak_4_at_HAL_5end
chr12 96390108 96390143 CAGE_peak_2_at_HAL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I096039 96039018 96040971 0.77 [{'connected_gene': 'LTA4H', 'score': 18.8}, {'connected_gene': 'LOC102723340', 'score': 15.24}, {'connected_gene': 'HAL', 'score': 5.34}, {'connected_gene': 'AMDHD1', 'score': 4.97}, {'connected_gene': 'TRD-GTC2-8', 'score': 0.77}]
chr12 GH12I095986 95986943 95987092 0.31 [{'connected_gene': 'HAL', 'score': 10.74}, {'connected_gene': 'LTA4H', 'score': 10.32}, {'connected_gene': 'SNRPF', 'score': 9.76}, {'connected_gene': 'GC12M095983', 'score': 0.77}]
chr12 GH12I096013 96013636 96016174 0.56 [{'connected_gene': 'HAL', 'score': 23.53}, {'connected_gene': 'LTA4H', 'score': 11.19}, {'connected_gene': 'CFAP54', 'score': 8.85}, {'connected_gene': 'ENSG00000257715', 'score': 0.39}, {'connected_gene': 'LOC102723340', 'score': 0.37}]
chr12 GH12I095972 95972110 95974865 0.89 [{'connected_gene': 'HAL', 'score': 34.0}, {'connected_gene': 'CCDC38', 'score': 10.81}, {'connected_gene': 'AMDHD1', 'score': 10.81}, {'connected_gene': 'LOC102723340', 'score': 7.93}, {'connected_gene': 'GC12M095961', 'score': 0.39}, {'connected_gene': 'GC12M095983', 'score': 0.39}]
chr12 GH12I095994 95994801 95997200 1.84 [{'connected_gene': 'HAL', 'score': 573.08}, {'connected_gene': 'LOC102723340', 'score': 558.23}, {'connected_gene': 'AMDHD1', 'score': 14.8}, {'connected_gene': 'CCDC38', 'score': 10.47}, {'connected_gene': 'GC12M095983', 'score': 0.39}]
chr12 GH12I096027 96027215 96031733 0.2 [{'connected_gene': 'HAL', 'score': 33.68}, {'connected_gene': 'LOC102723340', 'score': 4.93}, {'connected_gene': 'ENSG00000257715', 'score': 0.77}, {'connected_gene': 'TRD-GTC2-8', 'score': 0.44}, {'connected_gene': 'LTA4H', 'score': 0.39}]
chr12 GH12I095965 95965626 95967524 0.86 [{'connected_gene': 'AMDHD1', 'score': 37.83}, {'connected_gene': 'HAL', 'score': 30.97}, {'connected_gene': 'CCDC38', 'score': 12.57}, {'connected_gene': 'GC12M095961', 'score': 0.77}, {'connected_gene': 'GC12M095983', 'score': 0.37}]
chr12 GH12I095970 95970543 95971368 0.2 [{'connected_gene': 'AMDHD1', 'score': 19.84}, {'connected_gene': 'HAL', 'score': 18.02}, {'connected_gene': 'GC12M095961', 'score': 0.44}, {'connected_gene': 'GC12M095983', 'score': 0.39}]
chr12 GH12I095941 95941989 95944343 2.03 [{'connected_gene': 'AMDHD1', 'score': 593.99}, {'connected_gene': 'CCDC38', 'score': 550.77}, {'connected_gene': 'NR2C1', 'score': 66.92}, {'connected_gene': 'USP44', 'score': 22.56}, {'connected_gene': 'ELK3', 'score': 21.23}, {'connected_gene': 'METAP2', 'score': 20.69}, {'connected_gene': 'SNRPF', 'score': 10.73}, {'connected_gene': 'VEZT', 'score': 10.15}, {'connected_gene': 'LTA4H', 'score': 9.94}, {'connected_gene': 'HAL', 'score': 6.23}, {'connected_gene': 'GC12P095914', 'score': 0.31}]
chr12 GH12I096009 96009336 96011352 0.2 [{'connected_gene': 'LOC102723340', 'score': 23.48}, {'connected_gene': 'HAL', 'score': 23.32}, {'connected_gene': 'LTA4H', 'score': 11.17}, {'connected_gene': 'CFAP54', 'score': 8.85}, {'connected_gene': 'ENSG00000257715', 'score': 0.39}]
chr12 GH12I096020 96020201 96021200 1.02 [{'connected_gene': 'LOC102723340', 'score': 23.55}, {'connected_gene': 'HAL', 'score': 16.55}, {'connected_gene': 'LTA4H', 'score': 11.65}, {'connected_gene': 'ENSG00000257715', 'score': 0.77}]
chr12 GH12I096004 96004118 96005900 0.31 [{'connected_gene': 'LOC102723340', 'score': 20.16}, {'connected_gene': 'AMDHD1', 'score': 8.05}, {'connected_gene': 'HAL', 'score': 5.38}, {'connected_gene': 'ENSG00000257715', 'score': 0.34}, {'connected_gene': 'LTA4H', 'score': 0.28}]
chr12 GH12I096033 96033773 96036703 2.29 [{'connected_gene': 'TRD-GTC2-8', 'score': 550.77}, {'connected_gene': 'LTA4H', 'score': 550.44}, {'connected_gene': 'HAL', 'score': 30.49}, {'connected_gene': 'LOC102723340', 'score': 19.53}, {'connected_gene': 'NR2C1', 'score': 14.94}, {'connected_gene': 'METAP2', 'score': 11.32}, {'connected_gene': 'VEZT', 'score': 10.57}, {'connected_gene': 'AMDHD1', 'score': 6.61}, {'connected_gene': 'ENSG00000257715', 'score': 0.44}]
chr12 GH12I096036 96036721 96038141 0.89 [{'connected_gene': 'TRD-GTC2-8', 'score': 550.77}, {'connected_gene': 'HAL', 'score': 32.77}, {'connected_gene': 'LOC102723340', 'score': 19.76}, {'connected_gene': 'LTA4H', 'score': 16.3}]
chr12 GH12I096044 96044002 96049400 1.53 [{'connected_gene': 'GC12P096047', 'score': 550.77}, {'connected_gene': 'LTA4H', 'score': 20.35}, {'connected_gene': 'HAL', 'score': 10.5}, {'connected_gene': 'ELK3', 'score': 6.34}, {'connected_gene': 'SNRPF', 'score': 5.31}, {'connected_gene': 'AMDHD1', 'score': 4.77}]

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