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
ENST00000502917 [[4269427, 4269750], [4270256, 4270659]] None
ENST00000343470 [[4269427, 4269750], [4270256, 4270342], [4275309, 4275396], [4276093, 4276496], [4281173, 4281257], [4281368, 4281476], [4283509, 4283624], [4285347, 4285522], [4288245, 4288299], [4291762, 4291896]] [[4269615, 4269750], [4270256, 4270342], [4275309, 4275396], [4276093, 4276496], [4281173, 4281257], [4281368, 4281476], [4283509, 4283624], [4285347, 4285469]]
ENST00000452476 [[4269430, 4269750], [4270256, 4270342], [4275309, 4275396], [4276093, 4276496], [4281173, 4281257], [4281368, 4281476], [4283509, 4283624], [4285347, 4285522], [4288245, 4288299], [4291712, 4291748]] [[4269615, 4269750], [4270256, 4270342], [4275309, 4275396], [4276093, 4276496], [4281173, 4281257], [4281368, 4281476], [4283509, 4283624], [4285347, 4285469]]
ENST00000513174 [[4283509, 4283624], [4285347, 4285522], [4288245, 4288299], [4291329, 4291765]] [[4283509, 4283624], [4285347, 4285469]]
NM_001145725 [[4269427, 4269750], [4270256, 4270342], [4275309, 4275396], [4276093, 4276496], [4281173, 4281257], [4281368, 4281476], [4283509, 4283624], [4285347, 4285522], [4288245, 4288299], [4291712, 4291748]] [[4269615, 4269750], [4270256, 4270342], [4275309, 4275396], [4276093, 4276496], [4281173, 4281257], [4281368, 4281476], [4283509, 4283624], [4285347, 4285469]]
NM_017816 [[4269427, 4269750], [4270256, 4270342], [4275309, 4275396], [4276093, 4276496], [4281173, 4281257], [4281368, 4281476], [4283509, 4283624], [4285347, 4285522], [4288245, 4288299], [4291762, 4291896]] [[4269615, 4269750], [4270256, 4270342], [4275309, 4275396], [4276093, 4276496], [4281173, 4281257], [4281368, 4281476], [4283509, 4283624], [4285347, 4285469]]
Promoter
Chrom Start End Description
chr4 4291751 4291760 CAGE_peak_12_at_LYAR_5end
chr4 4291761 4291766 CAGE_peak_15_at_LYAR_5end
chr4 4291780 4291807 CAGE_peak_4_at_LYAR_5end
chr4 4291811 4291822 CAGE_peak_5_at_LYAR_5end
chr4 4291837 4291859 CAGE_peak_2_at_LYAR_5end
chr4 4291861 4291913 CAGE_peak_1_at_LYAR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I004215 4215757 4217771 0.51 [{'connected_gene': 'TMEM128', 'score': 20.98}, {'connected_gene': 'OR7E99P', 'score': 5.56}, {'connected_gene': 'LYAR', 'score': 4.7}, {'connected_gene': 'OTOP1', 'score': 0.39}, {'connected_gene': 'PIR49722', 'score': 0.31}]
chr4 GH04I004264 4264966 4272431 1.24 [{'connected_gene': 'TMEM128', 'score': 21.37}, {'connected_gene': 'LYAR', 'score': 16.48}, {'connected_gene': 'ZBTB49', 'score': 1.55}, {'connected_gene': 'GC04P004281', 'score': 0.39}]
chr4 GH04I004327 4327496 4328343 1.05 [{'connected_gene': 'LYAR', 'score': 16.17}, {'connected_gene': 'TMEM128', 'score': 11.5}, {'connected_gene': 'ADRA2C', 'score': 5.58}, {'connected_gene': 'NSG1', 'score': 4.97}, {'connected_gene': 'ENSG00000248516', 'score': 0.44}, {'connected_gene': 'PIR59167', 'score': 0.44}]
chr4 GH04I004345 4345054 4345183 0.54 [{'connected_gene': 'LYAR', 'score': 5.1}, {'connected_gene': 'NSG1', 'score': 0.77}, {'connected_gene': 'PIR59167', 'score': 0.39}]
chr4 GH04I004323 4323298 4324910 1.05 [{'connected_gene': 'LYAR', 'score': 28.01}, {'connected_gene': 'ZBTB49', 'score': 21.67}, {'connected_gene': 'TMEM128', 'score': 11.01}, {'connected_gene': 'ENSG00000248516', 'score': 0.77}, {'connected_gene': 'PIR59167', 'score': 0.44}]
chr4 GH04I004288 4288775 4291201 1.99 [{'connected_gene': 'LYAR', 'score': 589.65}, {'connected_gene': 'ZBTB49', 'score': 558.35}, {'connected_gene': 'GC04P004281', 'score': 0.44}]
chr4 GH04I004308 4308366 4310361 0.2 [{'connected_gene': 'LYAR', 'score': 33.25}, {'connected_gene': 'ZBTB49', 'score': 9.17}, {'connected_gene': 'GC04M004314', 'score': 0.44}]
chr4 GH04I004284 4284934 4285203 0.6 [{'connected_gene': 'LYAR', 'score': 39.6}, {'connected_gene': 'GC04P004281', 'score': 0.77}]
chr4 GH04I004347 4347941 4349350 0.49 [{'connected_gene': 'NSG1', 'score': 593.99}, {'connected_gene': 'TMEM128', 'score': 10.94}, {'connected_gene': 'LYAR', 'score': 6.41}, {'connected_gene': 'STX18-IT1', 'score': 0.12}]
chr4 GH04I004277 4277148 4277902 0.31 [{'connected_gene': 'ZBTB49', 'score': 7.21}, {'connected_gene': 'GC04P004281', 'score': 0.77}, {'connected_gene': 'LYAR', 'score': 0.39}, {'connected_gene': 'TMEM128', 'score': 0.31}]
chr4 GH04I003826 3826719 3829224 1.35 [{'connected_gene': 'ADRA2C', 'score': 4.33}, {'connected_gene': 'LYAR', 'score': 1.28}, {'connected_gene': 'GC04P003863', 'score': 0.28}]
chr4 GH04I004332 4332987 4333604 0.56 [{'connected_gene': 'PIR59167', 'score': 550.77}, {'connected_gene': 'LYAR', 'score': 12.23}, {'connected_gene': 'TMEM128', 'score': 11.49}, {'connected_gene': 'NSG1', 'score': 7.37}, {'connected_gene': 'ENSG00000248516', 'score': 0.39}]
chr4 GH04I004335 4335200 4335565 0.98 [{'connected_gene': 'PIR59167', 'score': 550.77}, {'connected_gene': 'LYAR', 'score': 11.53}, {'connected_gene': 'NSG1', 'score': 0.39}]