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
ENST00000380118 [[4115922, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133945], [4135744, 4135831]] [[4116107, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133945], [4135744, 4135794]]
ENST00000380125 [[4115926, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133935], [4135603, 4135702]] [[4116107, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133905]]
ENST00000413766 [[4115927, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133945], [4135744, 4135831]] [[4116107, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065]]
ENST00000496241 [[4115933, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130412, 4130483], [4130605, 4130794], [4131000, 4131099], [4133782, 4133935], [4135744, 4135825]] [[4130471, 4130483], [4130605, 4130794], [4131000, 4131099], [4133782, 4133905]]
ENST00000380120 [[4115935, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130876], [4131000, 4131099], [4133782, 4133945], [4135744, 4135824]] [[4130729, 4130876], [4131000, 4131099], [4133782, 4133945], [4135744, 4135794]]
ENST00000478266 [[4115939, 4116263], [4117541, 4117685], [4119419, 4119509], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133945], [4135744, 4135798]] [[4119486, 4119509], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133945], [4135744, 4135794]]
ENST00000464057 [[4115939, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133935], [4135744, 4135809]] None
ENST00000361538 [[4115939, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133935], [4135744, 4135831]] [[4116107, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133905]]
ENST00000465828 [[4115940, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133945], [4135545, 4135791]] [[4116107, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133905]]
ENST00000464583 [[4115941, 4116263], [4117541, 4119509], [4125483, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4134016]] None
ENST00000495548 [[4128047, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133945], [4135348, 4135693]] [[4128047, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133945], [4135348, 4135539]]
ENST00000489086 [[4130551, 4130794], [4131000, 4131099], [4133782, 4133935], [4135744, 4135807]] None
NM_001166010 [[4115926, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133935], [4135603, 4135702]] [[4116107, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133905]]
NM_206836 [[4115926, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133945], [4135744, 4135831]] [[4116107, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133945], [4135744, 4135794]]
NR_028588 [[4115926, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130412, 4130483], [4130605, 4130794], [4131000, 4131099], [4133782, 4133935], [4135744, 4135831]] None
NM_006117 [[4115926, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133935], [4135744, 4135831]] [[4116107, 4116263], [4117541, 4117685], [4119419, 4119509], [4125483, 4125604], [4126368, 4126471], [4127995, 4128065], [4130605, 4130794], [4131000, 4131099], [4133782, 4133905]]
Promoter
Chrom Start End Description
chr6 4135775 4135822 CAGE_peak_1_at_ECI2_5end
chr6 4135825 4135836 CAGE_peak_2_at_ECI2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I004109 4109607 4109756 0.82 [{'connected_gene': 'C6orf201', 'score': 22.87}, {'connected_gene': 'ENSG00000254821', 'score': 12.35}, {'connected_gene': 'ECI2', 'score': 12.35}, {'connected_gene': 'LOC100507506', 'score': 12.35}, {'connected_gene': 'FAM217A', 'score': 11.9}, {'connected_gene': 'PSMG4', 'score': 11.76}, {'connected_gene': 'PRPF4B', 'score': 9.83}, {'connected_gene': 'GC06P004125', 'score': 0.37}, {'connected_gene': 'GC06M004088', 'score': 0.34}]
chr6 GH06I004103 4103878 4104281 0.2 [{'connected_gene': 'C6orf201', 'score': 12.23}, {'connected_gene': 'ENSG00000254821', 'score': 11.48}, {'connected_gene': 'ECI2', 'score': 11.48}, {'connected_gene': 'LOC100507506', 'score': 11.48}, {'connected_gene': 'GC06M004088', 'score': 0.37}, {'connected_gene': 'GC06P004125', 'score': 0.34}]
chr6 GH06I004088 4088511 4089579 0.31 [{'connected_gene': 'FAM217A', 'score': 550.77}, {'connected_gene': 'GC06M004088', 'score': 550.77}, {'connected_gene': 'ENSG00000254821', 'score': 11.3}, {'connected_gene': 'ECI2', 'score': 11.3}, {'connected_gene': 'LOC100507506', 'score': 11.3}, {'connected_gene': 'C6orf201', 'score': 8.25}, {'connected_gene': 'GC06P004125', 'score': 0.28}]
chr6 GH06I004133 4133341 4137119 2.07 [{'connected_gene': 'ECI2', 'score': 559.7}, {'connected_gene': 'ENSG00000254821', 'score': 550.77}, {'connected_gene': 'LOC100507506', 'score': 550.77}, {'connected_gene': 'C6orf201', 'score': 27.42}, {'connected_gene': 'FAM217A', 'score': 12.02}, {'connected_gene': 'GC06P004132', 'score': 0.77}]
chr6 GH06I004061 4061607 4061942 0.4 [{'connected_gene': 'ENSG00000230648', 'score': 12.04}, {'connected_gene': 'PRPF4B', 'score': 12.04}, {'connected_gene': 'ENSG00000254821', 'score': 12.03}, {'connected_gene': 'ECI2', 'score': 12.03}, {'connected_gene': 'LOC100507506', 'score': 12.03}, {'connected_gene': 'FAM217A', 'score': 11.51}, {'connected_gene': 'GC06M004066', 'score': 0.77}, {'connected_gene': 'GC06M004041', 'score': 0.37}]
chr6 GH06I004127 4127858 4129477 0.56 [{'connected_gene': 'ENSG00000228170', 'score': 15.98}, {'connected_gene': 'LOC442155', 'score': 13.3}, {'connected_gene': 'ENSG00000271978', 'score': 12.03}, {'connected_gene': 'GC06P004132', 'score': 0.77}, {'connected_gene': 'GC06P004125', 'score': 0.77}, {'connected_gene': 'ECI2', 'score': 0.44}, {'connected_gene': 'C6orf201', 'score': 0.25}]
chr6 GH06I004125 4125259 4127400 0.77 [{'connected_gene': 'GC06P004125', 'score': 550.77}, {'connected_gene': 'C6orf201', 'score': 21.43}, {'connected_gene': 'ECI2', 'score': 9.44}, {'connected_gene': 'GC06P004132', 'score': 0.77}]
chr6 GH06I004129 4129999 4130873 0.76 [{'connected_gene': 'GC06P004132', 'score': 550.77}, {'connected_gene': 'C6orf201', 'score': 12.52}, {'connected_gene': 'ECI2', 'score': 0.44}, {'connected_gene': 'GC06P004125', 'score': 0.44}]
chr6 GH06I004057 4057800 4060651 0.94 [{'connected_gene': 'ENSG00000230648', 'score': 17.09}, {'connected_gene': 'ENSG00000254821', 'score': 11.88}, {'connected_gene': 'ECI2', 'score': 11.88}, {'connected_gene': 'LOC100507506', 'score': 11.88}, {'connected_gene': 'PRPF4B', 'score': 11.68}, {'connected_gene': 'FAM217A', 'score': 11.51}, {'connected_gene': 'ENSG00000272248', 'score': 5.35}, {'connected_gene': 'GC06M004066', 'score': 0.44}, {'connected_gene': 'GC06M004041', 'score': 0.37}]
chr6 GH06I004091 4091043 4092572 0.52 [{'connected_gene': 'ENSG00000254821', 'score': 11.52}, {'connected_gene': 'ECI2', 'score': 11.52}, {'connected_gene': 'LOC100507506', 'score': 11.52}, {'connected_gene': 'C6orf201', 'score': 8.39}, {'connected_gene': 'ENSG00000230648', 'score': 7.86}, {'connected_gene': 'GC06M004088', 'score': 0.77}, {'connected_gene': 'GC06P004125', 'score': 0.29}]
chr6 GH06I004168 4168931 4169700 0.2 [{'connected_gene': 'ENSG00000254821', 'score': 11.31}, {'connected_gene': 'ECI2', 'score': 11.31}, {'connected_gene': 'LOC100507506', 'score': 11.31}, {'connected_gene': 'LOC100129052', 'score': 0.37}]

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