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
ENST00000401466 [[120436742, 120436801], [120438407, 120439694]] [[120438429, 120439365]]
ENST00000424086 [[120436742, 120437193], [120438407, 120439694]] [[120438429, 120439365]]
ENST00000272521 [[120436745, 120436852], [120438407, 120439694]] [[120438429, 120439365]]
ENST00000445518 [[120436766, 120437193], [120438407, 120438771]] [[120438429, 120438771]]
ENST00000496203 [[120436778, 120436852], [120443233, 120444040]] None
ENST00000409951 [[120436778, 120436852], [120438407, 120438699], [120443233, 120444083]] [[120438429, 120438699], [120443233, 120443290]]
NM_001105199 [[120436742, 120436801], [120438407, 120439694]] [[120438429, 120439365]]
NM_030577 [[120436742, 120436852], [120438407, 120439694]] [[120438429, 120439365]]
NM_001105198 [[120436742, 120437193], [120438407, 120439694]] [[120438429, 120439365]]
Promoter
Chrom Start End Description
chr2 120436733 120436759 CAGE_peak_2_at_TMEM177_5end
chr2 120436760 120436793 CAGE_peak_1_at_TMEM177_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I119641 119641685 119641834 0.76 [{'connected_gene': 'TMEM177', 'score': 6.3}, {'connected_gene': 'CFAP221', 'score': 0.15}]
chr2 GH02I119677 119677922 119680191 2 [{'connected_gene': 'TMEM177', 'score': 565.24}, {'connected_gene': 'CFAP221', 'score': 0.12}]
chr2 GH02I119657 119657401 119657801 0.4 [{'connected_gene': 'TMEM177', 'score': 8.21}, {'connected_gene': 'CFAP221', 'score': 0.14}]
chr2 GH02I119682 119682670 119685009 0.63 [{'connected_gene': 'TMEM177', 'score': 14.3}, {'connected_gene': 'PIR62578', 'score': 0.39}]
chr2 GH02I119554 119554065 119554214 0.63 [{'connected_gene': 'SCTR', 'score': 11.61}, {'connected_gene': 'CFAP221', 'score': 0.44}, {'connected_gene': 'TMEM177', 'score': 0.13}]
chr2 GH02I119495 119495129 119496256 0.31 [{'connected_gene': 'SCTR', 'score': 28.29}, {'connected_gene': 'TMEM37', 'score': 11.14}, {'connected_gene': 'CFAP221', 'score': 10.46}, {'connected_gene': 'TMEM177', 'score': 4.72}, {'connected_gene': 'LOC107105282', 'score': 0.37}]
chr2 GH02I119644 119644991 119645036 0.22 [{'connected_gene': 'PTPN4', 'score': 1.47}, {'connected_gene': 'TMEM177', 'score': 0.29}, {'connected_gene': 'CFAP221', 'score': 0.15}]
chr2 GH02I119820 119820200 119820601 0.76 [{'connected_gene': 'PTPN4', 'score': 12.03}, {'connected_gene': 'EPB41L5', 'score': 11.28}, {'connected_gene': 'TMEM177', 'score': 9.08}, {'connected_gene': 'LOC101927764', 'score': 0.22}, {'connected_gene': 'GC02P119982', 'score': 0.1}]
chr2 GH02I119927 119927106 119930913 0.2 [{'connected_gene': 'EPB41L5', 'score': 10.03}, {'connected_gene': 'TMEM177', 'score': 4.81}, {'connected_gene': 'GC02P119982', 'score': 0.23}, {'connected_gene': 'LOC101927764', 'score': 0.1}, {'connected_gene': 'PTPN4', 'score': 0.1}]
chr2 GH02I119598 119598165 119599453 0.2 [{'connected_gene': 'CFAP221', 'score': 0.23}, {'connected_gene': 'TMEM177', 'score': 0.18}]
chr2 GH02I119579 119579625 119579754 0.56 [{'connected_gene': 'CFAP221', 'score': 11.54}, {'connected_gene': 'TMEM177', 'score': 0.15}]
chr2 GH02I119541 119541404 119552176 2.19 [{'connected_gene': 'CFAP221', 'score': 550.77}, {'connected_gene': 'SCTR', 'score': 15.14}, {'connected_gene': 'TMEM185B', 'score': 10.18}, {'connected_gene': 'TMEM177', 'score': 5.17}, {'connected_gene': 'EPB41L5', 'score': 4.5}]
chr2 GH02I119112 119112581 119113618 0.31 [{'connected_gene': 'C1QL2', 'score': 12.08}, {'connected_gene': 'TMEM177', 'score': 5.09}, {'connected_gene': 'LOC105373580', 'score': 0.1}]
chr2 GH02I119694 119694329 119696371 0.95 [{'connected_gene': 'PIR62578', 'score': 550.77}, {'connected_gene': 'PTPN4', 'score': 10.74}, {'connected_gene': 'TMEM177', 'score': 0.37}]