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
ENST00000433449 [[47324406, 47324584], [47339051, 47339162], [47361142, 47361273], [47364057, 47364197]] [[47324455, 47324584], [47339051, 47339114]]
ENST00000437353 [[47324435, 47324584], [47361142, 47361273], [47364057, 47364199]] [[47324455, 47324584], [47361142, 47361273], [47364057, 47364199]]
ENST00000461084 [[47324435, 47324584], [47361142, 47361273], [47364057, 47364198], [47371440, 47371639], [47374646, 47374807], [47376172, 47376309], [47378024, 47380312]] None
ENST00000232766 [[47324435, 47324584], [47361142, 47361273], [47364057, 47364198], [47371440, 47371639], [47374646, 47374807], [47376172, 47376309], [47378024, 47378247], [47382061, 47382166], [47384208, 47384320], [47385044, 47388306]] [[47324455, 47324584], [47361142, 47361273], [47364057, 47364198], [47371440, 47371639], [47374646, 47374807], [47376172, 47376309], [47378024, 47378247], [47382061, 47382166], [47384208, 47384320], [47385044, 47385431]]
ENST00000442272 [[47324436, 47324584], [47364057, 47364198], [47371440, 47371639], [47374646, 47374807], [47376172, 47376309], [47378024, 47378247], [47382061, 47382166], [47384208, 47384320], [47385044, 47386067]] [[47324455, 47324584], [47364057, 47364108]]
ENST00000455924 [[47324436, 47324584], [47364057, 47364198], [47371440, 47371639], [47374646, 47374807], [47376172, 47376309], [47378024, 47378247], [47382061, 47382166], [47384208, 47384320], [47385044, 47386067]] [[47364133, 47364198], [47371440, 47371639], [47374646, 47374807], [47376172, 47376309], [47378024, 47378247], [47382061, 47382166], [47384208, 47384320], [47385044, 47385431]]
ENST00000483201 [[47324448, 47324584], [47328709, 47328948]] None
NM_025010 [[47324329, 47324584], [47361142, 47361273], [47364057, 47364198], [47371440, 47371639], [47374646, 47374807], [47376172, 47376309], [47378024, 47378247], [47382061, 47382166], [47384208, 47384320], [47385044, 47388306]] [[47324455, 47324584], [47361142, 47361273], [47364057, 47364198], [47371440, 47371639], [47374646, 47374807], [47376172, 47376309], [47378024, 47378247], [47382061, 47382166], [47384208, 47384320], [47385044, 47385431]]
Promoter
Chrom Start End Description
chr3 47324112 47324177 CAGE_peak_2_at_KLHL18_5end
chr3 47324397 47324414 CAGE_peak_3_at_KLHL18_5end
chr3 47324424 47324447 CAGE_peak_1_at_KLHL18_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I047250 47250691 47251000 0.96 [{'connected_gene': 'SNORD13P3', 'score': 550.77}, {'connected_gene': 'NBEAL2', 'score': 10.16}, {'connected_gene': 'KLHL18', 'score': 0.29}, {'connected_gene': 'KIF9', 'score': 0.29}]
chr3 GH03I047323 47323536 47323940 0.49 [{'connected_gene': 'PTH1R', 'score': 6.6}, {'connected_gene': 'GC03P047316', 'score': 0.44}, {'connected_gene': 'PIR47008', 'score': 0.44}, {'connected_gene': 'KLHL18', 'score': 0.26}]
chr3 GH03I047910 47910381 47912481 0.82 [{'connected_gene': 'ZNF589', 'score': 14.77}, {'connected_gene': 'RNU7-128P', 'score': 10.15}, {'connected_gene': 'CDC25A', 'score': 10.15}, {'connected_gene': 'NDUFB1P1', 'score': 10.15}, {'connected_gene': 'KLHL18', 'score': 4.78}, {'connected_gene': 'PIR47490', 'score': 0.44}, {'connected_gene': 'ENSG00000199591', 'score': 0.34}, {'connected_gene': 'GC03M047931', 'score': 0.34}, {'connected_gene': 'MAP4', 'score': 0.1}]
chr3 GH03I048085 48085261 48090540 2.61 [{'connected_gene': 'MAP4', 'score': 550.77}, {'connected_gene': 'ATRIP', 'score': 67.27}, {'connected_gene': 'DHX30', 'score': 53.05}, {'connected_gene': 'ZNF589', 'score': 35.25}, {'connected_gene': 'ENSG00000235236', 'score': 30.27}, {'connected_gene': 'SETD2', 'score': 27.79}, {'connected_gene': 'PTPN23', 'score': 20.42}, {'connected_gene': 'TMEM89', 'score': 19.29}, {'connected_gene': 'KLHL18', 'score': 17.09}, {'connected_gene': 'ENSG00000260236', 'score': 13.92}, {'connected_gene': 'BOLA2P2', 'score': 13.1}, {'connected_gene': 'PRKAR2A', 'score': 12.53}, {'connected_gene': 'SCAP', 'score': 12.34}, {'connected_gene': 'ELP6', 'score': 12.28}, {'connected_gene': 'NME6', 'score': 11.86}, {'connected_gene': 'MRPS18AP1', 'score': 11.69}, {'connected_gene': 'ENSG00000223343', 'score': 11.4}, {'connected_gene': 'P4HTM', 'score': 10.42}, {'connected_gene': 'DALRD3', 'score': 9.76}, {'connected_gene': 'ENSG00000270285', 'score': 0.25}]
chr3 GH03I047522 47522002 47522601 1.2 [{'connected_gene': 'PRSS50', 'score': 5.57}, {'connected_gene': 'ZNF589', 'score': 4.98}, {'connected_gene': 'KLHL18', 'score': 4.88}, {'connected_gene': 'ELP6', 'score': 0.44}, {'connected_gene': 'LOC105377074', 'score': 0.39}]
chr3 GH03I047078 47078526 47078547 0.23 [{'connected_gene': 'SETD2', 'score': 3.96}, {'connected_gene': 'KLHL18', 'score': 1.41}, {'connected_gene': 'PRSS45', 'score': 1.32}, {'connected_gene': 'CCDC12', 'score': 1.28}, {'connected_gene': 'MRPL57P3', 'score': 0.25}]
chr3 GH03I046984 46984349 46991945 1.66 [{'connected_gene': 'SETD2', 'score': 17.07}, {'connected_gene': 'NBEAL2', 'score': 15.64}, {'connected_gene': 'PTPN23', 'score': 14.3}, {'connected_gene': 'CCDC12', 'score': 11.86}, {'connected_gene': 'BOLA2P2', 'score': 11.2}, {'connected_gene': 'PTH1R', 'score': 6.55}, {'connected_gene': 'KLHL18', 'score': 1.74}, {'connected_gene': 'NRADDP', 'score': 0.34}]
chr3 GH03I047116 47116992 47117202 0.2 [{'connected_gene': 'KIF9-AS1', 'score': 12.65}, {'connected_gene': 'SETD2', 'score': 12.65}, {'connected_gene': 'KLHL18', 'score': 10.22}, {'connected_gene': 'KIF9', 'score': 10.22}, {'connected_gene': 'MRPL57P3', 'score': 0.17}]
chr3 GH03I047117 47117286 47118323 0.85 [{'connected_gene': 'KIF9-AS1', 'score': 12.65}, {'connected_gene': 'SETD2', 'score': 12.65}, {'connected_gene': 'KLHL18', 'score': 10.22}, {'connected_gene': 'KIF9', 'score': 10.22}, {'connected_gene': 'CCDC12', 'score': 5.5}, {'connected_gene': 'MRPL57P3', 'score': 0.17}]
chr3 GH03I047112 47112866 47115971 0.8 [{'connected_gene': 'KIF9-AS1', 'score': 12.65}, {'connected_gene': 'SETD2', 'score': 12.65}, {'connected_gene': 'NBEAL2', 'score': 12.01}, {'connected_gene': 'KLHL18', 'score': 10.48}, {'connected_gene': 'KIF9', 'score': 10.48}, {'connected_gene': 'MRPL57P3', 'score': 0.17}]
chr3 GH03I047379 47379060 47382317 2.12 [{'connected_gene': 'PTPN23', 'score': 581.27}, {'connected_gene': 'ENSG00000260236', 'score': 550.77}, {'connected_gene': 'NME6', 'score': 45.06}, {'connected_gene': 'SETD2', 'score': 40.73}, {'connected_gene': 'MRPS18AP1', 'score': 35.85}, {'connected_gene': 'ZNF589', 'score': 33.82}, {'connected_gene': 'CCDC12', 'score': 29.51}, {'connected_gene': 'BOLA2P2', 'score': 22.84}, {'connected_gene': 'NBEAL2', 'score': 12.63}, {'connected_gene': 'SCAP', 'score': 12.46}, {'connected_gene': 'SMARCC1', 'score': 11.0}, {'connected_gene': 'DHX30', 'score': 9.97}, {'connected_gene': 'KLHL18', 'score': 9.19}, {'connected_gene': 'ENSG00000280173', 'score': 0.29}]
chr3 GH03I047280 47280997 47285688 2.34 [{'connected_gene': 'KLHL18', 'score': 550.77}, {'connected_gene': 'KIF9', 'score': 550.77}, {'connected_gene': 'DHX30', 'score': 13.23}, {'connected_gene': 'NBEAL2', 'score': 12.68}, {'connected_gene': 'PTPN23', 'score': 10.48}]
chr3 GH03I047290 47290257 47290767 0.2 [{'connected_gene': 'KLHL18', 'score': 0.44}, {'connected_gene': 'KIF9', 'score': 0.44}, {'connected_gene': 'GC03P047316', 'score': 0.31}]
chr3 GH03I048022 48022601 48022800 0.2 [{'connected_gene': 'KLHL18', 'score': 4.83}, {'connected_gene': 'ENSG00000270285', 'score': 0.37}, {'connected_gene': 'VPS26BP1', 'score': 0.21}, {'connected_gene': 'MAP4', 'score': 0.2}]
chr3 GH03I046924 46924839 46940733 1.71 [{'connected_gene': 'NBEAL2', 'score': 28.24}, {'connected_gene': 'PTH1R', 'score': 18.62}, {'connected_gene': 'CCDC12', 'score': 18.47}, {'connected_gene': 'MYL3', 'score': 11.48}, {'connected_gene': 'CSPG5', 'score': 5.35}, {'connected_gene': 'KLHL18', 'score': 3.33}, {'connected_gene': 'SETD2', 'score': 1.69}, {'connected_gene': 'ENSG00000273682', 'score': 0.39}, {'connected_gene': 'GC03P046964', 'score': 0.29}]
chr3 GH03I047291 47290893 47292778 0.63 [{'connected_gene': 'NBEAL2', 'score': 11.26}, {'connected_gene': 'PRSS45', 'score': 6.51}, {'connected_gene': 'KLHL18', 'score': 0.44}, {'connected_gene': 'KIF9', 'score': 0.44}, {'connected_gene': 'GC03P047316', 'score': 0.34}]
chr3 GH03I047140 47140601 47142400 0.97 [{'connected_gene': 'NBEAL2', 'score': 15.57}, {'connected_gene': 'KIF9-AS1', 'score': 12.4}, {'connected_gene': 'SETD2', 'score': 12.4}, {'connected_gene': 'KLHL18', 'score': 11.01}, {'connected_gene': 'KIF9', 'score': 11.01}, {'connected_gene': 'PTPN23', 'score': 10.14}, {'connected_gene': 'MRPL57P3', 'score': 0.14}]
chr3 GH03I047296 47296801 47297400 0.56 [{'connected_gene': 'NBEAL2', 'score': 10.81}, {'connected_gene': 'KLHL18', 'score': 0.39}, {'connected_gene': 'KIF9', 'score': 0.39}, {'connected_gene': 'GC03P047316', 'score': 0.37}]
chr3 GH03I047288 47288326 47289919 0.69 [{'connected_gene': 'NBEAL2', 'score': 11.18}, {'connected_gene': 'KLHL18', 'score': 0.44}, {'connected_gene': 'KIF9', 'score': 0.44}, {'connected_gene': 'GC03P047316', 'score': 0.31}]
chr3 GH03I047397 47397882 47398886 0.31 [{'connected_gene': 'NBEAL2', 'score': 11.01}, {'connected_gene': 'KLHL18', 'score': 9.23}, {'connected_gene': 'PTPN23', 'score': 0.37}, {'connected_gene': 'ENSG00000260236', 'score': 0.37}, {'connected_gene': 'PIR43961', 'score': 0.34}, {'connected_gene': 'GC03M047419', 'score': 0.34}]
chr3 GH03I046941 46941558 46951399 1.74 [{'connected_gene': 'NBEAL2', 'score': 34.1}, {'connected_gene': 'CCDC12', 'score': 19.09}, {'connected_gene': 'PTH1R', 'score': 18.41}, {'connected_gene': 'MYL3', 'score': 11.23}, {'connected_gene': 'SCAP', 'score': 10.97}, {'connected_gene': 'KLHL18', 'score': 8.96}, {'connected_gene': 'CSPG5', 'score': 5.71}, {'connected_gene': 'LRRC2', 'score': 5.26}, {'connected_gene': 'PRSS45', 'score': 5.04}, {'connected_gene': 'SETD2', 'score': 4.86}, {'connected_gene': 'BOLA2P2', 'score': 4.72}, {'connected_gene': 'PTPN23', 'score': 4.58}, {'connected_gene': 'KIF9', 'score': 1.58}, {'connected_gene': 'GC03P046964', 'score': 0.37}, {'connected_gene': 'ENSG00000273682', 'score': 0.31}]
chr3 GH03I046952 46952202 46961828 1.51 [{'connected_gene': 'NBEAL2', 'score': 30.63}, {'connected_gene': 'CCDC12', 'score': 16.08}, {'connected_gene': 'PTH1R', 'score': 7.44}, {'connected_gene': 'KLHL18', 'score': 6.97}, {'connected_gene': 'PRSS45', 'score': 6.95}, {'connected_gene': 'CSPG5', 'score': 4.92}, {'connected_gene': 'BOLA2P2', 'score': 4.33}, {'connected_gene': 'SETD2', 'score': 3.73}, {'connected_gene': 'GC03P046964', 'score': 0.44}, {'connected_gene': 'ENSG00000273682', 'score': 0.28}]
chr3 GH03I047266 47266371 47267442 1.12 [{'connected_gene': 'NBEAL2', 'score': 12.33}, {'connected_gene': 'PRSS46P', 'score': 11.26}, {'connected_gene': 'KIF9-AS1', 'score': 10.92}, {'connected_gene': 'SETD2', 'score': 10.92}, {'connected_gene': 'KLHL18', 'score': 0.37}, {'connected_gene': 'SNORD13P3', 'score': 0.37}, {'connected_gene': 'KIF9', 'score': 0.37}]
chr3 GH03I048033 48033601 48035600 1.08 [{'connected_gene': 'RNU7-128P', 'score': 10.69}, {'connected_gene': 'NDUFB1P1', 'score': 10.69}, {'connected_gene': 'CDC25A', 'score': 10.68}, {'connected_gene': 'KLHL18', 'score': 4.91}, {'connected_gene': 'ENSG00000270285', 'score': 0.77}, {'connected_gene': 'MAP4', 'score': 0.23}, {'connected_gene': 'VPS26BP1', 'score': 0.19}]
chr3 GH03I047441 47441116 47445080 1.51 [{'connected_gene': 'NME6', 'score': 18.89}, {'connected_gene': 'SETD2', 'score': 16.66}, {'connected_gene': 'PTPN23', 'score': 16.25}, {'connected_gene': 'NBEAL2', 'score': 12.71}, {'connected_gene': 'SCAP', 'score': 12.45}, {'connected_gene': 'ZNF589', 'score': 12.3}, {'connected_gene': 'MRPS18AP1', 'score': 11.93}, {'connected_gene': 'CCDC12', 'score': 11.34}, {'connected_gene': 'ELP6', 'score': 11.08}, {'connected_gene': 'BOLA2P2', 'score': 10.65}, {'connected_gene': 'FCF1P2', 'score': 9.95}, {'connected_gene': 'KLHL18', 'score': 9.02}, {'connected_gene': 'PTH1R', 'score': 6.48}, {'connected_gene': 'PIR43961', 'score': 0.34}, {'connected_gene': 'GC03M047419', 'score': 0.34}, {'connected_gene': 'ENSG00000276925', 'score': 0.31}]
chr3 GH03I047008 47008581 47010886 1.16 [{'connected_gene': 'NRADDP', 'score': 550.77}, {'connected_gene': 'NBEAL2', 'score': 29.08}, {'connected_gene': 'CCDC12', 'score': 13.27}, {'connected_gene': 'KLHL18', 'score': 10.66}, {'connected_gene': 'KIF9', 'score': 10.66}]
chr3 GH03I047314 47314396 47315839 1.14 [{'connected_gene': 'GC03P047316', 'score': 550.77}, {'connected_gene': 'SMARCC1', 'score': 12.13}, {'connected_gene': 'KLHL18', 'score': 11.2}, {'connected_gene': 'KIF9', 'score': 11.2}, {'connected_gene': 'KIF9-AS1', 'score': 10.3}, {'connected_gene': 'SETD2', 'score': 10.3}, {'connected_gene': 'PTH1R', 'score': 9.99}, {'connected_gene': 'MYL3', 'score': 9.99}, {'connected_gene': 'ZNF589', 'score': 9.98}]
chr3 GH03I047227 47227247 47228921 0.85 [{'connected_gene': 'GC03P047228', 'score': 550.77}, {'connected_gene': 'PTH1R', 'score': 6.58}, {'connected_gene': 'KLHL18', 'score': 5.13}, {'connected_gene': 'GC03M047224', 'score': 0.77}, {'connected_gene': 'PIR45519', 'score': 0.77}, {'connected_gene': 'KIF9', 'score': 0.22}, {'connected_gene': 'KIF9-AS1', 'score': 0.21}]
chr3 GH03I048125 48125131 48125300 0.43 [{'connected_gene': 'GC03M048116', 'score': 550.77}, {'connected_gene': 'KLHL18', 'score': 5.04}, {'connected_gene': 'SNRPFP4', 'score': 0.28}]
chr3 GH03I047324 47324351 47324540 0.75 [{'connected_gene': 'GC03P047316', 'score': 0.44}, {'connected_gene': 'PIR47008', 'score': 0.44}, {'connected_gene': 'KLHL18', 'score': 0.26}]
chr3 GH03I047346 47346998 47348034 1.15 [{'connected_gene': 'ENSG00000280173', 'score': 550.77}, {'connected_gene': 'NBEAL2', 'score': 28.92}, {'connected_gene': 'KLHL18', 'score': 11.36}, {'connected_gene': 'KIF9', 'score': 11.36}, {'connected_gene': 'KIF9-AS1', 'score': 10.73}, {'connected_gene': 'SETD2', 'score': 10.73}, {'connected_gene': 'CCDC12', 'score': 10.52}, {'connected_gene': 'SCAP', 'score': 9.92}, {'connected_gene': 'PTPN23', 'score': 0.29}]

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