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
ENST00000511880 [[76781019, 76782073], [76785592, 76785680], [76787341, 76787672], [76788465, 76788572], [76793177, 76793320], [76794279, 76794465], [76797439, 76797826], [76802483, 76803138], [76804078, 76804228], [76804318, 76804355], [76805746, 76805913], [76808004, 76808051], [76809366, 76809484], [76811109, 76811285], [76812800, 76812858], [76813003, 76813131], [76817423, 76817557], [76823382, 76823576]] [[76809481, 76809484], [76811109, 76811285], [76812800, 76812858], [76813003, 76813131], [76817423, 76817478]]
ENST00000286719 [[76781024, 76782073], [76785592, 76785680], [76787341, 76787505], [76788465, 76788572], [76793177, 76793320], [76794279, 76794465], [76797439, 76797826], [76804078, 76804228], [76804318, 76804355], [76805746, 76805913], [76808004, 76808051], [76809366, 76809481], [76811109, 76811285], [76812800, 76812858], [76813003, 76813131], [76817423, 76817536], [76823382, 76823681]] [[76781819, 76782073], [76785592, 76785680], [76787341, 76787505], [76788465, 76788572], [76793177, 76793320], [76794279, 76794465], [76797439, 76797826], [76804078, 76804228], [76804318, 76804355], [76805746, 76805913], [76808004, 76808051], [76809366, 76809481], [76811109, 76811285], [76812800, 76812858], [76813003, 76813131], [76817423, 76817478]]
ENST00000513324 [[76803905, 76804228], [76804318, 76804355], [76805746, 76805976]] None
ENST00000515552 [[76804101, 76804228], [76804318, 76804685]] None
ENST00000503352 [[76809453, 76809484], [76810255, 76810357], [76811109, 76811195]] None
ENST00000510607 [[76813086, 76813131], [76817423, 76817557], [76823382, 76823724]] None
NM_006239 [[76781024, 76782073], [76785592, 76785680], [76787341, 76787505], [76788465, 76788572], [76793177, 76793320], [76794279, 76794465], [76797439, 76797826], [76804078, 76804228], [76804318, 76804355], [76805746, 76805913], [76808004, 76808051], [76809366, 76809481], [76811109, 76811285], [76812800, 76812858], [76813003, 76813131], [76817423, 76817536], [76823382, 76823681]] [[76781819, 76782073], [76785592, 76785680], [76787341, 76787505], [76788465, 76788572], [76793177, 76793320], [76794279, 76794465], [76797439, 76797826], [76804078, 76804228], [76804318, 76804355], [76805746, 76805913], [76808004, 76808051], [76809366, 76809481], [76811109, 76811285], [76812800, 76812858], [76813003, 76813131], [76817423, 76817478]]
Promoter
Chrom Start End Description
chr4 76823577 76823588 CAGE_peak_3_at_PPEF2_5end
chr4 76823597 76823623 CAGE_peak_1_at_PPEF2_5end
chr4 76823718 76823737 CAGE_peak_2_at_PPEF2_5end
chr4 76823743 76823756 CAGE_peak_4_at_PPEF2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I075901 75901332 75902002 1.04 [{'connected_gene': 'PPEF2', 'score': 550.77}, {'connected_gene': 'NAAA', 'score': 30.92}, {'connected_gene': 'CXCL10', 'score': 3.55}, {'connected_gene': 'CXCL9', 'score': 3.17}, {'connected_gene': 'CXCL11', 'score': 2.78}, {'connected_gene': 'THAP6', 'score': 1.46}, {'connected_gene': 'RCHY1', 'score': 1.45}, {'connected_gene': 'LOC105377285', 'score': 0.34}]
chr4 GH04I075860 75860261 75861600 0.46 [{'connected_gene': 'PPEF2', 'score': 12.01}, {'connected_gene': 'RNU2-16P', 'score': 11.33}, {'connected_gene': 'LOC105377284', 'score': 11.32}, {'connected_gene': 'CDKL2', 'score': 9.54}, {'connected_gene': 'LOC105377285', 'score': 0.37}, {'connected_gene': 'GC04P075831', 'score': 0.29}]
chr4 GH04I075902 75902442 75902501 0.5 [{'connected_gene': 'PPEF2', 'score': 550.77}, {'connected_gene': 'LOC105377285', 'score': 0.34}]
chr4 GH04I075916 75916200 75916640 0.84 [{'connected_gene': 'CXCL9', 'score': 10.01}, {'connected_gene': 'ART3', 'score': 10.01}, {'connected_gene': 'PPEF2', 'score': 0.39}, {'connected_gene': 'PIR50646', 'score': 0.34}, {'connected_gene': 'NAAA', 'score': 0.34}, {'connected_gene': 'GC04M075942', 'score': 0.34}]
chr4 GH04I075909 75909307 75909868 0.31 [{'connected_gene': 'CXCL9', 'score': 10.46}, {'connected_gene': 'ART3', 'score': 9.81}, {'connected_gene': 'PPEF2', 'score': 8.68}, {'connected_gene': 'PIR50646', 'score': 0.29}, {'connected_gene': 'GC04M075942', 'score': 0.29}]
chr4 GH04I076072 76072307 76073694 0.38 [{'connected_gene': 'ART3', 'score': 21.34}, {'connected_gene': 'CXCL9', 'score': 11.43}, {'connected_gene': 'SDAD1', 'score': 11.01}, {'connected_gene': 'CXCL10', 'score': 11.0}, {'connected_gene': 'LOC101928809', 'score': 11.0}, {'connected_gene': 'PPEF2', 'score': 10.5}, {'connected_gene': 'GC04P076101', 'score': 0.31}, {'connected_gene': 'CXCL11', 'score': 0.29}]
chr4 GH04I076074 76074664 76074723 0.5 [{'connected_gene': 'ART3', 'score': 561.44}, {'connected_gene': 'CXCL9', 'score': 11.43}, {'connected_gene': 'SDAD1', 'score': 11.01}, {'connected_gene': 'LOC101928809', 'score': 11.0}, {'connected_gene': 'CXCL10', 'score': 10.98}, {'connected_gene': 'PPEF2', 'score': 10.5}, {'connected_gene': 'GC04P076101', 'score': 0.31}, {'connected_gene': 'CXCL11', 'score': 0.29}]
chr4 GH04I075939 75939435 75941580 1.92 [{'connected_gene': 'NAAA', 'score': 614.34}, {'connected_gene': 'GC04M075942', 'score': 550.77}, {'connected_gene': 'PIR50646', 'score': 550.77}, {'connected_gene': 'PPEF2', 'score': 12.19}, {'connected_gene': 'SCARB2', 'score': 8.36}, {'connected_gene': 'ART3', 'score': 7.28}, {'connected_gene': 'SDAD1', 'score': 0.23}, {'connected_gene': 'GC04M075923', 'score': 0.17}]
chr4 GH04I075847 75847548 75847697 0.46 [{'connected_gene': 'THAP6', 'score': 12.55}, {'connected_gene': 'LOC105377284', 'score': 12.54}, {'connected_gene': 'PPEF2', 'score': 11.3}, {'connected_gene': 'RCHY1', 'score': 11.22}, {'connected_gene': 'SDAD1', 'score': 10.73}, {'connected_gene': 'GC04P075831', 'score': 0.37}, {'connected_gene': 'LOC105377285', 'score': 0.29}]
chr4 GH04I075849 75849601 75849800 0.58 [{'connected_gene': 'RNU2-16P', 'score': 12.54}, {'connected_gene': 'LOC105377284', 'score': 12.51}, {'connected_gene': 'PPEF2', 'score': 11.3}, {'connected_gene': 'GC04P075831', 'score': 0.37}, {'connected_gene': 'LOC105377285', 'score': 0.31}]
chr4 GH04I075885 75885988 75886677 0.2 [{'connected_gene': 'LOC105377285', 'score': 0.44}, {'connected_gene': 'PPEF2', 'score': 0.37}]
chr4 GH04I075848 75848002 75849295 1.03 [{'connected_gene': 'LOC105377284', 'score': 12.51}, {'connected_gene': 'PPEF2', 'score': 11.3}, {'connected_gene': 'GC04P075831', 'score': 0.37}, {'connected_gene': 'LOC105377285', 'score': 0.31}]