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
ENST00000428358 [[10216898, 10217088], [10217176, 10217347], [10218180, 10218282], [10218479, 10218530], [10218639, 10218810], [10220306, 10220383], [10220588, 10220696], [10220798, 10220922], [10220999, 10221078], [10221160, 10221290], [10221372, 10221542], [10221620, 10221760], [10224308, 10225456]] [[10217070, 10217088], [10217176, 10217347], [10218180, 10218282], [10218479, 10218530], [10218639, 10218810], [10220306, 10220383], [10220588, 10220696], [10220798, 10220922], [10220999, 10221078], [10221160, 10221290], [10221372, 10221542], [10221620, 10221760], [10224308, 10224530]]
ENST00000393796 [[10217070, 10217088], [10217176, 10217347], [10218180, 10218282], [10218479, 10218530], [10218639, 10218810], [10220306, 10220383], [10220588, 10220696], [10220798, 10220922], [10220999, 10221078], [10221160, 10221290], [10221372, 10221542], [10221620, 10221698], [10224308, 10225414]] [[10217070, 10217088], [10217176, 10217347], [10218180, 10218282], [10218479, 10218530], [10218639, 10218810], [10220306, 10220383], [10220588, 10220696], [10220798, 10220922], [10220999, 10221078], [10221160, 10221290], [10221372, 10221542], [10221620, 10221698], [10224308, 10225414]]
NM_001040664 [[10216898, 10217088], [10217176, 10217347], [10218180, 10218282], [10218479, 10218530], [10218639, 10218810], [10220306, 10220383], [10220588, 10220696], [10220798, 10220922], [10220999, 10221078], [10221160, 10221290], [10221372, 10221542], [10221620, 10221698], [10224308, 10226065]] [[10217070, 10217088], [10217176, 10217347], [10218180, 10218282], [10218479, 10218530], [10218639, 10218810], [10220306, 10220383], [10220588, 10220696], [10220798, 10220922], [10220999, 10221078], [10221160, 10221290], [10221372, 10221542], [10221620, 10221698], [10224308, 10225414]]
NM_001198690 [[10216898, 10217088], [10217176, 10217347], [10218180, 10218282], [10218479, 10218530], [10218639, 10218810], [10220306, 10220383], [10220588, 10220696], [10220798, 10220922], [10220999, 10221078], [10221160, 10221290], [10221372, 10221542], [10221620, 10221760], [10224308, 10226065]] [[10217070, 10217088], [10217176, 10217347], [10218180, 10218282], [10218479, 10218530], [10218639, 10218810], [10220306, 10220383], [10220588, 10220696], [10220798, 10220922], [10220999, 10221078], [10221160, 10221290], [10221372, 10221542], [10221620, 10221760], [10224308, 10224530]]
Promoter
Chrom Start End Description
chr19 10216998 10217061 CAGE_peak_1_at_PPAN-P2RY11_5end,CAGE_peak_1_at_PPAN_5end
chr19 10217270 10217321 CAGE_peak_2_at_PPAN-P2RY11_5end,CAGE_peak_2_at_PPAN_5end
chr19 10217364 10217409 CAGE_peak_3_at_PPAN-P2RY11_5end,CAGE_peak_3_at_PPAN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I010191 10191005 10191943 0.74 [{'connected_gene': 'ANGPTL6', 'score': 11.72}, {'connected_gene': 'PPAN-P2RY11', 'score': 11.72}, {'connected_gene': 'PPAN', 'score': 11.72}, {'connected_gene': 'C19orf66', 'score': 7.12}, {'connected_gene': 'GC19M010177', 'score': 0.39}, {'connected_gene': 'LOC103689916', 'score': 0.31}, {'connected_gene': 'DNMT1', 'score': 0.28}]
chr19 GH19I010071 10071225 10071374 0.62 [{'connected_gene': 'ANGPTL6', 'score': 11.91}, {'connected_gene': 'PPAN-P2RY11', 'score': 11.91}, {'connected_gene': 'PPAN', 'score': 11.91}, {'connected_gene': 'RDH8', 'score': 11.86}, {'connected_gene': 'COL5A3', 'score': 11.84}, {'connected_gene': 'EIF3G', 'score': 11.74}, {'connected_gene': 'OLFM2', 'score': 11.14}, {'connected_gene': 'C19orf66', 'score': 0.39}, {'connected_gene': 'C3P1', 'score': 0.29}, {'connected_gene': 'MIR5589', 'score': 0.29}]
chr19 GH19I010100 10100248 10108526 2.61 [{'connected_gene': 'PPAN', 'score': 599.15}, {'connected_gene': 'ANGPTL6', 'score': 552.82}, {'connected_gene': 'PPAN-P2RY11', 'score': 550.77}, {'connected_gene': 'ZNF699', 'score': 100.79}, {'connected_gene': 'ILF3', 'score': 98.71}, {'connected_gene': 'LOC100419831', 'score': 96.44}, {'connected_gene': 'ZNF317', 'score': 84.92}, {'connected_gene': 'FBXL12', 'score': 76.82}, {'connected_gene': 'ZNF559', 'score': 75.85}, {'connected_gene': 'KRI1', 'score': 72.15}, {'connected_gene': 'ZNF561', 'score': 61.99}, {'connected_gene': 'DNMT1', 'score': 58.64}, {'connected_gene': 'ZNF562', 'score': 52.08}, {'connected_gene': 'ZNF121', 'score': 48.32}, {'connected_gene': 'YIPF2', 'score': 42.82}, {'connected_gene': 'RAVER1', 'score': 41.61}, {'connected_gene': 'ZNF177', 'score': 36.98}, {'connected_gene': 'ZNF426', 'score': 30.27}, {'connected_gene': 'CDC37', 'score': 30.22}, {'connected_gene': 'ZNF846', 'score': 29.45}, {'connected_gene': 'TIMM29', 'score': 29.22}, {'connected_gene': 'EIF3G', 'score': 27.67}, {'connected_gene': 'LOC100128428', 'score': 22.25}, {'connected_gene': 'ENSG00000267273', 'score': 18.19}, {'connected_gene': 'QTRT1', 'score': 18.03}, {'connected_gene': 'S1PR5', 'score': 17.2}, {'connected_gene': 'ENSG00000267510', 'score': 14.67}, {'connected_gene': 'SMARCA4', 'score': 12.47}, {'connected_gene': 'P2RY11', 'score': 12.2}, {'connected_gene': 'RPL10P15', 'score': 11.39}, {'connected_gene': 'TYK2', 'score': 11.23}, {'connected_gene': 'ILF3-AS1', 'score': 11.08}, {'connected_gene': 'C19orf66', 'score': 10.35}, {'connected_gene': 'UBE2L4', 'score': 10.02}, {'connected_gene': 'ENSG00000200237', 'score': 9.76}, {'connected_gene': 'FDX2', 'score': 4.37}, {'connected_gene': 'ATG4D', 'score': 2.75}, {'connected_gene': 'ICAM3', 'score': 1.42}, {'connected_gene': 'SNORD105', 'score': 0.77}, {'connected_gene': 'GC19P010110', 'score': 0.77}, {'connected_gene': 'GC19P010091', 'score': 0.39}]
chr19 GH19I010197 10197601 10201814 0.86 [{'connected_gene': 'C19orf66', 'score': 19.46}, {'connected_gene': 'ANGPTL6', 'score': 17.11}, {'connected_gene': 'S1PR2', 'score': 13.47}, {'connected_gene': 'MRPL4', 'score': 12.13}, {'connected_gene': 'ICAM1', 'score': 12.1}, {'connected_gene': 'EIF3G', 'score': 11.76}, {'connected_gene': 'SNORD105B', 'score': 11.38}, {'connected_gene': 'P2RY11', 'score': 11.38}, {'connected_gene': 'PPAN', 'score': 11.37}, {'connected_gene': 'PPAN-P2RY11', 'score': 11.37}, {'connected_gene': 'SNORD105', 'score': 11.37}, {'connected_gene': 'RDH8', 'score': 10.4}, {'connected_gene': 'COL5A3', 'score': 10.4}, {'connected_gene': 'DNM2', 'score': 4.72}, {'connected_gene': 'LOC103689916', 'score': 0.37}, {'connected_gene': 'GC19M010177', 'score': 0.34}, {'connected_gene': 'DNMT1', 'score': 0.29}]
chr19 GH19I010141 10141997 10144218 0.38 [{'connected_gene': 'C19orf66', 'score': 18.23}, {'connected_gene': 'ANGPTL6', 'score': 17.05}, {'connected_gene': 'EIF3G', 'score': 13.18}, {'connected_gene': 'P2RY11', 'score': 12.5}, {'connected_gene': 'SNORD105B', 'score': 12.5}, {'connected_gene': 'PPAN-P2RY11', 'score': 12.48}, {'connected_gene': 'SNORD105', 'score': 12.48}, {'connected_gene': 'PPAN', 'score': 12.48}, {'connected_gene': 'RDH8', 'score': 10.93}, {'connected_gene': 'COL5A3', 'score': 10.92}, {'connected_gene': 'GC19M010177', 'score': 0.28}, {'connected_gene': 'DNMT1', 'score': 0.17}]
chr19 GH19I010110 10110441 10115614 1.66 [{'connected_gene': 'P2RY11', 'score': 563.43}, {'connected_gene': 'GC19P010132', 'score': 550.77}, {'connected_gene': 'PIR48091', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 74.65}, {'connected_gene': 'ZNF559', 'score': 51.21}, {'connected_gene': 'ZNF699', 'score': 50.54}, {'connected_gene': 'ZNF266', 'score': 50.06}, {'connected_gene': 'ZNF317', 'score': 42.12}, {'connected_gene': 'FBXL12', 'score': 32.95}, {'connected_gene': 'LOC100419831', 'score': 32.09}, {'connected_gene': 'RAVER1', 'score': 32.0}, {'connected_gene': 'DNMT1', 'score': 30.12}, {'connected_gene': 'PPAN', 'score': 29.07}, {'connected_gene': 'KRI1', 'score': 28.07}, {'connected_gene': 'ZNF561', 'score': 26.68}, {'connected_gene': 'ZNF177', 'score': 23.88}, {'connected_gene': 'ENSG00000267510', 'score': 22.84}, {'connected_gene': 'ZNF426', 'score': 21.71}, {'connected_gene': 'CDC37', 'score': 19.76}, {'connected_gene': 'EIF3G', 'score': 19.5}, {'connected_gene': 'ZNF121', 'score': 19.21}, {'connected_gene': 'ILF3-AS1', 'score': 18.88}, {'connected_gene': 'TIMM29', 'score': 13.25}, {'connected_gene': 'LOC100128428', 'score': 12.96}, {'connected_gene': 'TYK2', 'score': 11.37}, {'connected_gene': 'ZNF562', 'score': 11.32}, {'connected_gene': 'SMARCA4', 'score': 10.59}, {'connected_gene': 'C19orf66', 'score': 9.77}, {'connected_gene': 'MRPL4', 'score': 4.81}, {'connected_gene': 'PPAN-P2RY11', 'score': 0.44}]
chr19 GH19I010138 10138053 10139086 0.46 [{'connected_gene': 'P2RY11', 'score': 12.47}, {'connected_gene': 'SNORD105B', 'score': 12.47}, {'connected_gene': 'ANGPTL6', 'score': 12.45}, {'connected_gene': 'SNORD105', 'score': 12.45}, {'connected_gene': 'PPAN-P2RY11', 'score': 12.45}, {'connected_gene': 'PPAN', 'score': 12.45}, {'connected_gene': 'EIF3G', 'score': 0.37}, {'connected_gene': 'GC19M010177', 'score': 0.28}, {'connected_gene': 'DNMT1', 'score': 0.16}]
chr19 GH19I010192 10192630 10195987 1.8 [{'connected_gene': 'ZNF266', 'score': 40.42}, {'connected_gene': 'RAVER1', 'score': 37.65}, {'connected_gene': 'FBXL12', 'score': 32.66}, {'connected_gene': 'PPAN', 'score': 32.16}, {'connected_gene': 'ILF3', 'score': 29.77}, {'connected_gene': 'ZNF699', 'score': 29.44}, {'connected_gene': 'ZNF561', 'score': 28.57}, {'connected_gene': 'KRI1', 'score': 26.94}, {'connected_gene': 'EIF3G', 'score': 19.74}, {'connected_gene': 'CDC37', 'score': 15.11}, {'connected_gene': 'LOC100128428', 'score': 13.47}, {'connected_gene': 'ANGPTL6', 'score': 11.72}, {'connected_gene': 'PPAN-P2RY11', 'score': 11.72}, {'connected_gene': 'ZNF562', 'score': 10.94}, {'connected_gene': 'DNMT1', 'score': 10.25}, {'connected_gene': 'ZNF559', 'score': 9.88}, {'connected_gene': 'TYK2', 'score': 9.84}, {'connected_gene': 'C19orf66', 'score': 9.63}, {'connected_gene': 'DNM2', 'score': 4.81}, {'connected_gene': 'GC19M010177', 'score': 0.37}, {'connected_gene': 'LOC103689916', 'score': 0.34}]