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
ENST00000543788 [[96075003, 96075221], [96094390, 96094475], [96097533, 96097631], [96098364, 96098493], [96099495, 96099677], [96100032, 96100104], [96100189, 96100253], [96101429, 96101502], [96104171, 96104272], [96104609, 96104690], [96106181, 96106313], [96109006, 96109135], [96109869, 96110045], [96112066, 96112160], [96112652, 96112733]] [[96075203, 96075221], [96094390, 96094475], [96097533, 96097631], [96098364, 96098493], [96099495, 96099677], [96100032, 96100104], [96100189, 96100253], [96101429, 96101502], [96104171, 96104272], [96104609, 96104690], [96106181, 96106313], [96109006, 96109135], [96109869, 96110045], [96112066, 96112160], [96112652, 96112724]]
ENST00000371361 [[96092982, 96094062], [96094390, 96094475], [96097533, 96097631], [96098364, 96098493], [96099495, 96099677], [96100032, 96100104], [96100189, 96100253], [96101429, 96101502], [96104171, 96104272], [96104609, 96104690], [96106181, 96106313], [96109006, 96109135], [96109869, 96110045], [96112066, 96112160], [96112652, 96112814], [96114719, 96114850], [96116291, 96116348], [96116930, 96117088], [96117839, 96117972], [96121421, 96121629], [96122586, 96122696]] [[96093933, 96094062], [96094390, 96094475], [96097533, 96097631], [96098364, 96098493], [96099495, 96099677], [96100032, 96100104], [96100189, 96100253], [96101429, 96101502], [96104171, 96104272], [96104609, 96104690], [96106181, 96106313], [96109006, 96109135], [96109869, 96110045], [96112066, 96112160], [96112652, 96112814], [96114719, 96114850], [96116291, 96116348], [96116930, 96117088], [96117839, 96117972], [96121421, 96121629], [96122586, 96122595]]
ENST00000371350 [[96092988, 96094062], [96094390, 96094475], [96097533, 96097631], [96098364, 96098493], [96099495, 96099677], [96100032, 96100104], [96100189, 96100253], [96101429, 96101502], [96104171, 96104272], [96104609, 96104690], [96106181, 96106313], [96109006, 96109135], [96109869, 96110045], [96112066, 96112160], [96112652, 96112814], [96114719, 96114850], [96116291, 96116348], [96116930, 96117088], [96117839, 96117972], [96121421, 96121629], [96121702, 96121711]] [[96093933, 96094062], [96094390, 96094475], [96097533, 96097631], [96098364, 96098493], [96099495, 96099677], [96100032, 96100104], [96100189, 96100253], [96101429, 96101502], [96104171, 96104272], [96104609, 96104690], [96106181, 96106313], [96109006, 96109135], [96109869, 96110045], [96112066, 96112160], [96112652, 96112814], [96114719, 96114850], [96116291, 96116348], [96116930, 96117088], [96117839, 96117972], [96121421, 96121629], [96121702, 96121711]]
ENST00000463649 [[96106232, 96106313], [96109006, 96109135], [96109869, 96110045], [96112066, 96112160], [96112652, 96112814], [96114719, 96114850], [96116291, 96116348], [96116930, 96117972], [96121421, 96121629], [96122586, 96122696]] None
ENST00000461562 [[96121080, 96121318], [96121421, 96121629], [96122586, 96122716]] None
NM_022451 [[96092982, 96094062], [96094390, 96094475], [96097533, 96097631], [96098364, 96098493], [96099495, 96099677], [96100032, 96100104], [96100189, 96100253], [96101429, 96101502], [96104171, 96104272], [96104609, 96104690], [96106181, 96106313], [96109006, 96109135], [96109869, 96110045], [96112066, 96112160], [96112652, 96112814], [96114719, 96114850], [96116291, 96116348], [96116930, 96117088], [96117839, 96117972], [96121421, 96121629], [96122586, 96122733]] [[96093933, 96094062], [96094390, 96094475], [96097533, 96097631], [96098364, 96098493], [96099495, 96099677], [96100032, 96100104], [96100189, 96100253], [96101429, 96101502], [96104171, 96104272], [96104609, 96104690], [96106181, 96106313], [96109006, 96109135], [96109869, 96110045], [96112066, 96112160], [96112652, 96112814], [96114719, 96114850], [96116291, 96116348], [96116930, 96117088], [96117839, 96117972], [96121421, 96121629], [96122586, 96122595]]
Promoter
Chrom Start End Description
chr10 96122645 96122675 CAGE_peak_2_at_NOC3L_5end
chr10 96122682 96122730 CAGE_peak_1_at_NOC3L_5end
chr10 96122739 96122750 CAGE_peak_3_at_NOC3L_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I095320 95320595 95323391 0.38 [{'connected_gene': 'PDLIM1', 'score': 15.78}, {'connected_gene': 'NOC3L', 'score': 12.07}, {'connected_gene': 'TCTN3', 'score': 11.67}, {'connected_gene': 'ZNF518A', 'score': 10.38}, {'connected_gene': 'GC10M095392', 'score': 0.19}, {'connected_gene': 'SORBS1', 'score': 0.07}]
chr10 GH10I094115 94115884 94116013 0.52 [{'connected_gene': 'NOC3L', 'score': 12.06}, {'connected_gene': 'RPL17P34', 'score': 10.7}, {'connected_gene': 'ENSG00000231575', 'score': 0.44}, {'connected_gene': 'HDAC1P1', 'score': 0.34}, {'connected_gene': 'PLCE1', 'score': 0.13}]
chr10 GH10I094383 94383640 94383816 0.68 [{'connected_gene': 'NOC3L', 'score': 7.76}, {'connected_gene': 'TBC1D12', 'score': 5.24}]
chr10 GH10I094444 94444404 94444553 0.65 [{'connected_gene': 'NOC3L', 'score': 6.22}, {'connected_gene': 'PIR44069', 'score': 0.39}, {'connected_gene': 'TBC1D12', 'score': 0.26}]
chr10 GH10I094343 94343938 94345617 0.59 [{'connected_gene': 'NOC3L', 'score': 16.12}, {'connected_gene': 'CYP2C19', 'score': 6.75}, {'connected_gene': 'PIR55864', 'score': 0.37}, {'connected_gene': 'ENSG00000273450', 'score': 0.31}]
chr10 GH10I094361 94361242 94363573 2.08 [{'connected_gene': 'NOC3L', 'score': 578.21}, {'connected_gene': 'PIR55864', 'score': 550.77}, {'connected_gene': 'ENSG00000273450', 'score': 30.67}, {'connected_gene': 'FRA10AC1', 'score': 14.79}, {'connected_gene': 'PDE6C', 'score': 13.89}, {'connected_gene': 'PIPSL', 'score': 11.87}, {'connected_gene': 'PLCE1-AS1', 'score': 9.92}, {'connected_gene': 'PLCE1', 'score': 5.42}]
chr10 GH10I094212 94212524 94214841 0.88 [{'connected_gene': 'NOC3L', 'score': 6.66}, {'connected_gene': 'MTND4P19', 'score': 4.76}, {'connected_gene': 'HELLS', 'score': 4.36}, {'connected_gene': 'CYP2C9', 'score': 3.95}, {'connected_gene': 'ENSG00000228553', 'score': 0.39}, {'connected_gene': 'RNU6-657P', 'score': 0.22}, {'connected_gene': 'GC10M094156', 'score': 0.22}, {'connected_gene': 'PLCE1', 'score': 0.08}]
chr10 GH10I094210 94210220 94211423 0.63 [{'connected_gene': 'NOC3L', 'score': 4.57}, {'connected_gene': 'MTND4P19', 'score': 4.02}, {'connected_gene': 'ENSG00000228553', 'score': 0.37}, {'connected_gene': 'RNU6-657P', 'score': 0.22}, {'connected_gene': 'GC10M094156', 'score': 0.22}, {'connected_gene': 'PLCE1', 'score': 0.08}]
chr10 GH10I094273 94273893 94276973 0.46 [{'connected_gene': 'NOC3L', 'score': 6.76}, {'connected_gene': 'PLCE1-AS1', 'score': 5.08}, {'connected_gene': 'PLCE1', 'score': 4.9}, {'connected_gene': 'ACSM6', 'score': 4.03}, {'connected_gene': 'ENSG00000228553', 'score': 0.25}]
chr10 GH10I094310 94310128 94311184 0.74 [{'connected_gene': 'NOC3L', 'score': 13.2}, {'connected_gene': 'PLCE1-AS1', 'score': 6.12}, {'connected_gene': 'ENSG00000273450', 'score': 0.77}, {'connected_gene': 'PLCE1', 'score': 0.06}]
chr10 GH10I094291 94291812 94294376 0.43 [{'connected_gene': 'NOC3L', 'score': 11.24}, {'connected_gene': 'PLCE1-AS1', 'score': 7.4}, {'connected_gene': 'SLC35G1', 'score': 4.14}, {'connected_gene': 'ENSG00000273450', 'score': 0.34}, {'connected_gene': 'PLCE1', 'score': 0.06}]
chr10 GH10I094357 94357775 94359294 0.96 [{'connected_gene': 'NOC3L', 'score': 6.13}, {'connected_gene': 'PIR55864', 'score': 0.77}, {'connected_gene': 'ENSG00000273450', 'score': 0.26}]
chr10 GH10I093498 93498027 93498900 0.77 [{'connected_gene': 'CEP55', 'score': 561.72}, {'connected_gene': 'RPL17P34', 'score': 13.62}, {'connected_gene': 'PDE6C', 'score': 12.8}, {'connected_gene': 'NOC3L', 'score': 11.78}, {'connected_gene': 'RNA5SP323', 'score': 0.39}, {'connected_gene': 'GC10M093511', 'score': 0.39}]
chr10 GH10I093990 93990648 93995400 1.57 [{'connected_gene': 'PLCE1', 'score': 565.38}, {'connected_gene': 'RPL17P34', 'score': 22.04}, {'connected_gene': 'ENSG00000273450', 'score': 19.4}, {'connected_gene': 'NOC3L', 'score': 12.09}, {'connected_gene': 'LOC105378438', 'score': 0.44}]
chr10 GH10I094381 94381000 94381401 0.66 [{'connected_gene': 'HELLS', 'score': 10.91}, {'connected_gene': 'PDE6C', 'score': 10.52}, {'connected_gene': 'CYP2C19', 'score': 8.21}, {'connected_gene': 'NOC3L', 'score': 0.37}, {'connected_gene': 'TBC1D12', 'score': 0.34}]
chr10 GH10I094543 94543724 94547408 1.98 [{'connected_gene': 'HELLS', 'score': 564.66}, {'connected_gene': 'ENSG00000273450', 'score': 11.44}, {'connected_gene': 'PDE6C', 'score': 9.67}, {'connected_gene': 'ACSM6', 'score': 8.4}, {'connected_gene': 'NOC3L', 'score': 7.5}, {'connected_gene': 'GC10P094552', 'score': 0.44}]
chr10 GH10I094397 94397367 94398459 0.88 [{'connected_gene': 'HELLS', 'score': 14.18}, {'connected_gene': 'TBC1D12', 'score': 0.77}, {'connected_gene': 'NOC3L', 'score': 0.29}]
chr10 GH10I094428 94428650 94430243 0.58 [{'connected_gene': 'HELLS', 'score': 14.23}, {'connected_gene': 'ACSM6', 'score': 13.14}, {'connected_gene': 'NOC3L', 'score': 10.98}, {'connected_gene': 'TBC1D12', 'score': 0.31}, {'connected_gene': 'PIR44069', 'score': 0.31}]
chr10 GH10I094401 94401474 94405001 2.04 [{'connected_gene': 'TBC1D12', 'score': 550.77}, {'connected_gene': 'NOC3L', 'score': 31.32}, {'connected_gene': 'HELLS', 'score': 20.17}, {'connected_gene': 'PDE6C', 'score': 11.04}, {'connected_gene': 'PIR44069', 'score': 0.22}]
chr10 GH10I094370 94370657 94370775 0.25 [{'connected_gene': 'TBC1D12', 'score': 5.21}, {'connected_gene': 'NOC3L', 'score': 0.44}]
chr10 GH10I094679 94679461 94684898 1.36 [{'connected_gene': 'CYP2C18', 'score': 550.77}, {'connected_gene': 'ACSM6', 'score': 27.79}, {'connected_gene': 'CYP2C19', 'score': 14.98}, {'connected_gene': 'MTND4P19', 'score': 5.84}, {'connected_gene': 'NOC3L', 'score': 5.34}, {'connected_gene': 'CYP2C9', 'score': 4.69}, {'connected_gene': 'CTBP2P2', 'score': 0.29}]
chr10 GH10I093701 93701338 93703626 2.14 [{'connected_gene': 'FRA10AC1', 'score': 625.13}, {'connected_gene': 'RPL17P34', 'score': 85.97}, {'connected_gene': 'NOC3L', 'score': 82.21}, {'connected_gene': 'PDE6C', 'score': 74.44}, {'connected_gene': 'ENSG00000273450', 'score': 31.65}, {'connected_gene': 'MYOF', 'score': 12.54}, {'connected_gene': 'HELLS', 'score': 10.7}]
chr10 GH10I093511 93511424 93511553 0.54 [{'connected_gene': 'RNA5SP323', 'score': 550.77}, {'connected_gene': 'GC10M093511', 'score': 550.77}, {'connected_gene': 'PDE6C', 'score': 11.81}, {'connected_gene': 'NOC3L', 'score': 10.5}, {'connected_gene': 'RPL17P34', 'score': 10.11}, {'connected_gene': 'CEP55', 'score': 0.39}, {'connected_gene': 'GC10M093549', 'score': 0.28}]
chr10 GH10I094320 94320424 94320573 0.59 [{'connected_gene': 'ENSG00000273450', 'score': 0.44}, {'connected_gene': 'NOC3L', 'score': 0.26}, {'connected_gene': 'PIR55864', 'score': 0.26}, {'connected_gene': 'PLCE1', 'score': 0.05}]
chr10 GH10I094314 94314840 94317058 0.83 [{'connected_gene': 'ENSG00000273450', 'score': 550.77}, {'connected_gene': 'PLCE1-AS1', 'score': 14.48}, {'connected_gene': 'CYP2C8', 'score': 4.74}, {'connected_gene': 'NOC3L', 'score': 0.25}, {'connected_gene': 'PIR55864', 'score': 0.25}, {'connected_gene': 'PLCE1', 'score': 0.05}]