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
ENST00000320017 [[47455202, 47455589], [47455669, 47455876], [47456061, 47456142], [47456316, 47456483], [47456587, 47456670], [47458611, 47458697], [47458793, 47459313], [47459623, 47459739], [47459810, 47460012], [47460144, 47460333], [47460817, 47461194], [47462043, 47462262], [47462420, 47462519], [47463931, 47464026], [47465422, 47465535], [47476497, 47476627], [47484361, 47484581], [47517288, 47517427]] [[47462481, 47462519], [47463931, 47464026], [47465422, 47465535], [47476497, 47476627], [47484361, 47484483]]
ENST00000265565 [[47455202, 47455589], [47455669, 47455876], [47456061, 47456142], [47456316, 47456483], [47456587, 47456670], [47458611, 47458697], [47458793, 47459316], [47459623, 47459739], [47459810, 47460012], [47460144, 47460333], [47460817, 47461194], [47462043, 47462262], [47462420, 47462519], [47463931, 47464026], [47465422, 47465535], [47466974, 47467101], [47467486, 47467659], [47468646, 47468752], [47468936, 47469157], [47470002, 47470160], [47476497, 47476627], [47484361, 47484581], [47517288, 47517603]] [[47455343, 47455589], [47455669, 47455876], [47456061, 47456142], [47456316, 47456483], [47456587, 47456670], [47458611, 47458697], [47458793, 47459316], [47459623, 47459739], [47459810, 47460012], [47460144, 47460333], [47460817, 47461194], [47462043, 47462262], [47462420, 47462519], [47463931, 47464026], [47465422, 47465535], [47466974, 47467101], [47467486, 47467659], [47468646, 47468752], [47468936, 47469157], [47470002, 47470160], [47476497, 47476627], [47484361, 47484483]]
ENST00000441517 [[47455210, 47455589], [47455669, 47455876], [47456061, 47456142], [47456316, 47456483], [47456587, 47456670], [47458611, 47458697], [47458793, 47459313], [47459623, 47459739], [47459810, 47460012], [47460144, 47460333], [47460817, 47461194], [47462043, 47462262], [47462420, 47462519], [47463931, 47464026], [47465422, 47465535], [47466974, 47467101], [47467486, 47467659], [47476497, 47476627], [47484361, 47484581], [47517288, 47517339]] [[47455343, 47455589], [47455669, 47455876], [47456061, 47456142], [47456316, 47456483], [47456587, 47456670], [47458611, 47458697], [47458793, 47459313], [47459623, 47459739], [47459810, 47460012], [47460144, 47460333], [47460817, 47461194], [47462043, 47462262], [47462420, 47462519], [47463931, 47464026], [47465422, 47465535], [47466974, 47467101], [47467486, 47467631]]
ENST00000545718 [[47455210, 47455589], [47455669, 47455876], [47456061, 47456142], [47456316, 47456483], [47456587, 47456670], [47458611, 47458697], [47458793, 47459313], [47459623, 47459739], [47459810, 47460012], [47460144, 47460333], [47460817, 47461194], [47462043, 47462262], [47462420, 47462519], [47463931, 47464026], [47465422, 47465535], [47476497, 47476627], [47484361, 47484581], [47517288, 47517427]] [[47455343, 47455589], [47455669, 47455876], [47456061, 47456142], [47456316, 47456483], [47456587, 47456670], [47458611, 47458697], [47458793, 47459313], [47459623, 47459739], [47459810, 47460012], [47460144, 47460333], [47460817, 47461194], [47462043, 47462262], [47462420, 47462519], [47463931, 47464000]]
ENST00000416208 [[47460874, 47461194], [47462043, 47462262], [47462420, 47462519], [47463931, 47464026], [47476497, 47476627], [47484361, 47484581], [47517288, 47517427]] [[47464020, 47464026], [47476497, 47476627], [47484361, 47484483]]
ENST00000465628 [[47462108, 47462262], [47462420, 47462855]] None
ENST00000468965 [[47462143, 47462262], [47462420, 47462519], [47463931, 47464283]] None
ENST00000494938 [[47466764, 47467101], [47467486, 47467659], [47468646, 47468715]] None
ENST00000428413 [[47466974, 47467101], [47467486, 47467659], [47476497, 47476627], [47484361, 47484581], [47517288, 47517445]] [[47467545, 47467659], [47476497, 47476627], [47484361, 47484483]]
ENST00000487942 [[47469128, 47469157], [47470002, 47470516]] None
ENST00000416847 [[47470002, 47470160], [47476497, 47476627], [47484361, 47484581], [47516912, 47517087]] [[47470002, 47470160], [47476497, 47476627], [47484361, 47484483]]
ENST00000495603 [[47470015, 47470160], [47476497, 47476627], [47484361, 47484792]] [[47470015, 47470160], [47476497, 47476627], [47484361, 47484483]]
ENST00000420588 [[47470050, 47470160], [47476414, 47476627], [47484361, 47484584]] None
ENST00000485967 [[47476342, 47476627], [47484361, 47484584]] None
ENST00000448217 [[47476485, 47476627], [47484361, 47484581], [47518428, 47518616]] [[47476485, 47476627], [47484361, 47484483]]
NM_012235 [[47455174, 47455589], [47455669, 47455876], [47456061, 47456142], [47456316, 47456483], [47456587, 47456670], [47458611, 47458697], [47458793, 47459316], [47459623, 47459739], [47459810, 47460012], [47460144, 47460333], [47460817, 47461194], [47462043, 47462262], [47462420, 47462519], [47463931, 47464026], [47465422, 47465535], [47466974, 47467101], [47467486, 47467659], [47468646, 47468752], [47468936, 47469157], [47470002, 47470160], [47476497, 47476627], [47484361, 47484581], [47517288, 47517449]] [[47455343, 47455589], [47455669, 47455876], [47456061, 47456142], [47456316, 47456483], [47456587, 47456670], [47458611, 47458697], [47458793, 47459316], [47459623, 47459739], [47459810, 47460012], [47460144, 47460333], [47460817, 47461194], [47462043, 47462262], [47462420, 47462519], [47463931, 47464026], [47465422, 47465535], [47466974, 47467101], [47467486, 47467659], [47468646, 47468752], [47468936, 47469157], [47470002, 47470160], [47476497, 47476627], [47484361, 47484483]]
NM_001320044 [[47455174, 47455589], [47455669, 47455876], [47456061, 47456142], [47456316, 47456483], [47456587, 47456670], [47458611, 47458697], [47458793, 47459313], [47459623, 47459739], [47459810, 47460012], [47460144, 47460333], [47460817, 47461194], [47462043, 47462262], [47462420, 47462519], [47463931, 47464026], [47465422, 47465535], [47466974, 47467101], [47467486, 47467659], [47476497, 47476627], [47484361, 47484581], [47517288, 47517449]] [[47455343, 47455589], [47455669, 47455876], [47456061, 47456142], [47456316, 47456483], [47456587, 47456670], [47458611, 47458697], [47458793, 47459313], [47459623, 47459739], [47459810, 47460012], [47460144, 47460333], [47460817, 47461194], [47462043, 47462262], [47462420, 47462519], [47463931, 47464026], [47465422, 47465535], [47466974, 47467101], [47467486, 47467631]]
Promoter
Chrom Start End Description
chr3 47484661 47484686 CAGE_peak_4_at_SCAP_5end
chr3 47517302 47517451 CAGE_peak_1_at_SCAP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I046564 46564610 46567409 2.06 [{'connected_gene': 'LRRC2', 'score': 594.83}, {'connected_gene': 'LTF', 'score': 11.5}, {'connected_gene': 'RTP3', 'score': 11.37}, {'connected_gene': 'PRSS50', 'score': 7.61}, {'connected_gene': 'PRSS46P', 'score': 7.44}, {'connected_gene': 'CCRL2', 'score': 5.43}, {'connected_gene': 'SCAP', 'score': 4.08}, {'connected_gene': 'LRRC2-AS1', 'score': 0.44}, {'connected_gene': 'TDGF1', 'score': 0.44}]
chr3 GH03I047778 47778222 47783378 2.28 [{'connected_gene': 'SMARCC1', 'score': 550.77}, {'connected_gene': 'ZNF589', 'score': 14.36}, {'connected_gene': 'DHX30', 'score': 11.7}, {'connected_gene': 'MAP4', 'score': 11.61}, {'connected_gene': 'SCAP', 'score': 10.85}, {'connected_gene': 'SLC26A6', 'score': 4.78}, {'connected_gene': 'ENSG00000235695', 'score': 0.13}]
chr3 GH03I047423 47423699 47426166 0.76 [{'connected_gene': 'PTH1R', 'score': 6.6}, {'connected_gene': 'PIR43961', 'score': 0.44}, {'connected_gene': 'GC03M047419', 'score': 0.44}, {'connected_gene': 'ENSG00000276925', 'score': 0.26}, {'connected_gene': 'SCAP', 'score': 0.23}]
chr3 GH03I047481 47481268 47482928 0.85 [{'connected_gene': 'ELP6', 'score': 12.15}, {'connected_gene': 'CDC25A', 'score': 9.0}, {'connected_gene': 'SCAP', 'score': 8.6}, {'connected_gene': 'GC03P047477', 'score': 0.77}, {'connected_gene': 'LOC105377073', 'score': 0.44}, {'connected_gene': 'GC03P047492', 'score': 0.39}]
chr3 GH03I047511 47511506 47514201 2.08 [{'connected_gene': 'ELP6', 'score': 550.77}, {'connected_gene': 'SETD2', 'score': 40.79}, {'connected_gene': 'NME6', 'score': 36.21}, {'connected_gene': 'MRPS18AP1', 'score': 30.71}, {'connected_gene': 'ZNF589', 'score': 28.64}, {'connected_gene': 'PTPN23', 'score': 23.28}, {'connected_gene': 'ATRIP', 'score': 23.0}, {'connected_gene': 'CCDC12', 'score': 21.85}, {'connected_gene': 'FCF1P2', 'score': 18.76}, {'connected_gene': 'BOLA2P2', 'score': 13.34}, {'connected_gene': 'NBEAL2', 'score': 12.75}, {'connected_gene': 'SCAP', 'score': 7.1}, {'connected_gene': 'PRSS45', 'score': 5.76}, {'connected_gene': 'CSPG5', 'score': 4.13}, {'connected_gene': 'GC03M047501', 'score': 0.39}, {'connected_gene': 'GC03M047502', 'score': 0.39}]
chr3 GH03I047429 47429072 47430700 0.66 [{'connected_gene': 'ELP6', 'score': 11.67}, {'connected_gene': 'SCAP', 'score': 11.49}, {'connected_gene': 'PTPN23', 'score': 11.11}, {'connected_gene': 'CSPG5', 'score': 10.86}, {'connected_gene': 'DHX30', 'score': 9.69}, {'connected_gene': 'NBEAL2', 'score': 9.36}, {'connected_gene': 'PTH1R', 'score': 6.6}, {'connected_gene': 'PIR43961', 'score': 0.39}, {'connected_gene': 'GC03M047419', 'score': 0.39}, {'connected_gene': 'ENSG00000276925', 'score': 0.28}]
chr3 GH03I047465 47465801 47466523 0.94 [{'connected_gene': 'PLXNB1', 'score': 4.73}, {'connected_gene': 'ENSG00000276925', 'score': 0.77}, {'connected_gene': 'SCAP', 'score': 0.39}, {'connected_gene': 'PIR43961', 'score': 0.25}, {'connected_gene': 'GC03M047419', 'score': 0.25}]
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 GH03I047161 47161969 47166207 2.07 [{'connected_gene': 'SETD2', 'score': 577.83}, {'connected_gene': 'KIF9-AS1', 'score': 550.77}, {'connected_gene': 'PTPN23', 'score': 29.53}, {'connected_gene': 'BOLA2P2', 'score': 18.97}, {'connected_gene': 'NBEAL2', 'score': 13.63}, {'connected_gene': 'CCDC12', 'score': 13.6}, {'connected_gene': 'DHX30', 'score': 12.23}, {'connected_gene': 'SCAP', 'score': 11.33}, {'connected_gene': 'PTH1R', 'score': 6.62}]
chr3 GH03I046515 46515810 46518233 0.89 [{'connected_gene': 'SETD2', 'score': 16.94}, {'connected_gene': 'BOLA2P2', 'score': 13.1}, {'connected_gene': 'SCAP', 'score': 12.34}, {'connected_gene': 'CCDC12', 'score': 12.26}, {'connected_gene': 'PTPN23', 'score': 12.03}, {'connected_gene': 'LTF', 'score': 11.57}, {'connected_gene': 'TDGF1', 'score': 10.97}, {'connected_gene': 'RN7SL145P', 'score': 10.04}, {'connected_gene': 'LOC105377070', 'score': 0.77}, {'connected_gene': 'LRRC2-AS1', 'score': 0.26}, {'connected_gene': 'LRRC2', 'score': 0.21}]
chr3 GH03I047404 47404520 47406374 0.88 [{'connected_gene': 'PTPN23', 'score': 12.19}, {'connected_gene': 'SCAP', 'score': 11.87}, {'connected_gene': 'ELP6', 'score': 11.38}, {'connected_gene': 'PTH1R', 'score': 6.6}, {'connected_gene': 'PIR43961', 'score': 0.39}, {'connected_gene': 'GC03M047419', 'score': 0.39}, {'connected_gene': 'ENSG00000260236', 'score': 0.34}]
chr3 GH03I047410 47410837 47416738 0.74 [{'connected_gene': 'PTPN23', 'score': 27.17}, {'connected_gene': 'SCAP', 'score': 19.64}, {'connected_gene': 'FCF1P2', 'score': 18.01}, {'connected_gene': 'ZNF589', 'score': 13.02}, {'connected_gene': 'BOLA2P2', 'score': 12.88}, {'connected_gene': 'NBEAL2', 'score': 12.62}, {'connected_gene': 'SETD2', 'score': 12.16}, {'connected_gene': 'PRSS45', 'score': 5.78}, {'connected_gene': 'CCDC12', 'score': 5.43}, {'connected_gene': 'PIR43961', 'score': 0.44}, {'connected_gene': 'GC03M047419', 'score': 0.44}, {'connected_gene': 'ENSG00000260236', 'score': 0.29}]
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 GH03I047432 47432931 47436143 0.56 [{'connected_gene': 'NBEAL2', 'score': 12.07}, {'connected_gene': 'SCAP', 'score': 12.03}, {'connected_gene': 'ELP6', 'score': 11.68}, {'connected_gene': 'PTPN23', 'score': 11.09}, {'connected_gene': 'CSPG5', 'score': 10.86}, {'connected_gene': 'DHX30', 'score': 9.69}, {'connected_gene': 'PTH1R', 'score': 6.52}, {'connected_gene': 'PIR43961', 'score': 0.37}, {'connected_gene': 'GC03M047419', 'score': 0.37}, {'connected_gene': 'ENSG00000276925', 'score': 0.28}]
chr3 GH03I046973 46973565 46983284 2.29 [{'connected_gene': 'NBEAL2', 'score': 564.67}, {'connected_gene': 'CCDC12', 'score': 564.23}, {'connected_gene': 'FYCO1', 'score': 12.84}, {'connected_gene': 'SCAP', 'score': 11.3}, {'connected_gene': 'XCR1', 'score': 10.29}, {'connected_gene': 'PTH1R', 'score': 7.41}, {'connected_gene': 'BOLA2P2', 'score': 4.22}, {'connected_gene': 'GC03P046964', 'score': 0.39}]
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 GH03I047439 47439771 47440907 0.84 [{'connected_gene': 'SCAP', 'score': 18.32}, {'connected_gene': 'ELP6', 'score': 11.2}, {'connected_gene': 'PIR43961', 'score': 0.34}, {'connected_gene': 'GC03M047419', 'score': 0.34}, {'connected_gene': 'ENSG00000276925', 'score': 0.31}]
chr3 GH03I047794 47794671 47794820 0.74 [{'connected_gene': 'SCAP', 'score': 10.14}, {'connected_gene': 'RNU7-128P', 'score': 10.02}, {'connected_gene': 'NDUFB1P1', 'score': 10.02}, {'connected_gene': 'CDC25A', 'score': 10.02}, {'connected_gene': 'DHX30', 'score': 0.44}, {'connected_gene': 'SMARCC1', 'score': 0.39}]
chr3 GH03I047474 47474401 47477175 2.07 [{'connected_gene': 'SCAP', 'score': 557.14}, {'connected_gene': 'GC03P047477', 'score': 550.77}, {'connected_gene': 'LOC105377073', 'score': 550.77}, {'connected_gene': 'TREX1', 'score': 10.45}, {'connected_gene': 'ZNF589', 'score': 9.98}, {'connected_gene': 'NBEAL2', 'score': 9.98}, {'connected_gene': 'MAP4', 'score': 4.37}, {'connected_gene': 'ENSG00000276925', 'score': 0.44}]
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 GH03I047418 47418811 47423286 1.34 [{'connected_gene': 'PIR43961', 'score': 550.77}, {'connected_gene': 'GC03M047419', 'score': 550.77}, {'connected_gene': 'NBEAL2', 'score': 12.57}, {'connected_gene': 'PTH1R', 'score': 6.65}, {'connected_gene': 'ENSG00000276925', 'score': 0.25}, {'connected_gene': 'SCAP', 'score': 0.22}]
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}]
chr3 GH03I047477 47477907 47478463 0.31 [{'connected_gene': 'GC03P047477', 'score': 550.77}, {'connected_gene': 'SCAP', 'score': 550.77}, {'connected_gene': 'LOC105377073', 'score': 550.77}, {'connected_gene': 'PTH1R', 'score': 6.55}, {'connected_gene': 'GC03P047492', 'score': 0.39}]
chr3 GH03I047473 47473401 47474000 0.68 [{'connected_gene': 'ENSG00000276925', 'score': 0.77}, {'connected_gene': 'SCAP', 'score': 0.77}, {'connected_gene': 'LOC105377073', 'score': 0.77}]
chr3 GH03I047456 47456201 47456400 0.52 [{'connected_gene': 'ENSG00000276925', 'score': 0.39}, {'connected_gene': 'SCAP', 'score': 0.34}, {'connected_gene': 'PIR43961', 'score': 0.28}, {'connected_gene': 'GC03M047419', 'score': 0.28}]

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