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
ENST00000569515 [[121618561, 121618693], [121619310, 121619396], [121650296, 121650490], [121651981, 121652068]] None
ENST00000360003 [[121588971, 121591112], [121591523, 121591612], [121595051, 121595216], [121596407, 121596541], [121598046, 121598212], [121600354, 121600472], [121601983, 121602107], [121602759, 121602938], [121607124, 121607225], [121608936, 121609088], [121612561, 121612706], [121616849, 121616951], [121618395, 121618437], [121618552, 121618693], [121619310, 121619396], [121632038, 121632266]] [[121590985, 121591112], [121591523, 121591612], [121595051, 121595216], [121596407, 121596541], [121598046, 121598212], [121600354, 121600472], [121601983, 121602107], [121602759, 121602938], [121607124, 121607225], [121608936, 121609088], [121612561, 121612706], [121616849, 121616951], [121618395, 121618437], [121618552, 121618693], [121619310, 121619396], [121632038, 121632096]]
ENST00000369077 [[121590708, 121591112], [121591523, 121591612], [121595051, 121595216], [121596407, 121596541], [121598046, 121598212], [121600354, 121600472], [121601983, 121602107], [121602765, 121602938], [121607124, 121607225], [121608936, 121609088], [121612561, 121612706], [121616849, 121616951], [121618395, 121618437], [121618552, 121618693], [121619310, 121619396], [121632038, 121632361]] [[121590985, 121591112], [121591523, 121591612], [121595051, 121595216], [121596407, 121596541], [121598046, 121598212], [121600354, 121600472], [121601983, 121602107], [121602765, 121602938], [121607124, 121607225], [121608936, 121609088], [121612561, 121612706], [121616849, 121616951], [121618395, 121618437], [121618552, 121618693], [121619310, 121619396], [121632038, 121632096]]
ENST00000466047 [[121590712, 121591112], [121591523, 121591612], [121595051, 121595216], [121596407, 121596541], [121598046, 121598212], [121600354, 121600472], [121601983, 121602107], [121602765, 121602938], [121607124, 121607225], [121608936, 121609088], [121612561, 121612684], [121616858, 121616951], [121618395, 121618437], [121618552, 121618693], [121619310, 121619396], [121632942, 121633133]] None
ENST00000495407 [[121602293, 121602938], [121607124, 121607225], [121608936, 121609088], [121612561, 121612706], [121616849, 121617749]] None
NM_024834 [[121588915, 121591112], [121591523, 121591612], [121595051, 121595216], [121596407, 121596541], [121598046, 121598212], [121600354, 121600472], [121601983, 121602107], [121602759, 121602938], [121607124, 121607225], [121608936, 121609088], [121612561, 121612706], [121616849, 121616951], [121618395, 121618437], [121618552, 121618693], [121619310, 121619396], [121632038, 121632395]] [[121590985, 121591112], [121591523, 121591612], [121595051, 121595216], [121596407, 121596541], [121598046, 121598212], [121600354, 121600472], [121601983, 121602107], [121602759, 121602938], [121607124, 121607225], [121608936, 121609088], [121612561, 121612706], [121616849, 121616951], [121618395, 121618437], [121618552, 121618693], [121619310, 121619396], [121632038, 121632096]]
NM_001256378 [[121588915, 121591112], [121591523, 121591612], [121595051, 121595216], [121596407, 121596541], [121598046, 121598212], [121600354, 121600472], [121601983, 121602107], [121602765, 121602938], [121607124, 121607225], [121608936, 121609088], [121612561, 121612706], [121616849, 121616951], [121618395, 121618437], [121618552, 121618693], [121619310, 121619396], [121632038, 121632395]] [[121590985, 121591112], [121591523, 121591612], [121595051, 121595216], [121596407, 121596541], [121598046, 121598212], [121600354, 121600472], [121601983, 121602107], [121602765, 121602938], [121607124, 121607225], [121608936, 121609088], [121612561, 121612706], [121616849, 121616951], [121618395, 121618437], [121618552, 121618693], [121619310, 121619396], [121632038, 121632096]]
NM_001256379 [[121588915, 121591112], [121591523, 121591612], [121595051, 121595216], [121596407, 121596541], [121598046, 121598212], [121600354, 121600472], [121601983, 121602107], [121602765, 121602938], [121607124, 121607225], [121608936, 121609088], [121612561, 121612684], [121616858, 121616951], [121618395, 121618437], [121618552, 121618693], [121619310, 121619396], [121632942, 121633140]] [[121590985, 121591112], [121591523, 121591612], [121595051, 121595216], [121596407, 121596541], [121598046, 121598212], [121600354, 121600472], [121601983, 121602107], [121602765, 121602938], [121607124, 121607225], [121608936, 121609088], [121612561, 121612616]]
Promoter
Chrom Start End Description
chr10 121632344 121632418 CAGE_peak_1_at_MCMBP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I119650 119650584 119660678 2.72 [{'connected_gene': 'BAG3', 'score': 568.34}, {'connected_gene': 'TIAL1', 'score': 21.86}, {'connected_gene': 'SEC23IP', 'score': 20.53}, {'connected_gene': 'INPP5F', 'score': 11.7}, {'connected_gene': 'MCMBP', 'score': 10.82}, {'connected_gene': 'GRK5', 'score': 1.18}, {'connected_gene': 'TXNP1', 'score': 0.31}]
chr10 GH10I119078 119078210 119082192 2.26 [{'connected_gene': 'EIF3A', 'score': 550.77}, {'connected_gene': 'GC10P119080', 'score': 550.77}, {'connected_gene': 'TIAL1', 'score': 24.87}, {'connected_gene': 'SEC23IP', 'score': 23.99}, {'connected_gene': 'MCMBP', 'score': 21.83}, {'connected_gene': 'NANOS1', 'score': 9.97}, {'connected_gene': 'RN7SL749P', 'score': 4.76}, {'connected_gene': 'ENSG00000222588', 'score': 0.37}]
chr10 GH10I119871 119871000 119874233 2.01 [{'connected_gene': 'MCMBP', 'score': 563.16}, {'connected_gene': 'SEC23IP', 'score': 18.88}, {'connected_gene': 'TIAL1', 'score': 16.31}, {'connected_gene': 'WDR11', 'score': 9.76}, {'connected_gene': 'INPP5F', 'score': 8.57}, {'connected_gene': 'ENSG00000282413', 'score': 0.23}]
chr10 GH10I119891 119891514 119893918 2.08 [{'connected_gene': 'MCMBP', 'score': 557.71}, {'connected_gene': 'SEC23IP', 'score': 557.3}, {'connected_gene': 'INPP5F', 'score': 8.18}, {'connected_gene': 'MIR4682', 'score': 0.2}]
chr10 GH10I119279 119279226 119280589 0.62 [{'connected_gene': 'TIAL1', 'score': 17.39}, {'connected_gene': 'SEC23IP', 'score': 15.9}, {'connected_gene': 'MCMBP', 'score': 12.98}, {'connected_gene': 'RPL17P36', 'score': 10.76}, {'connected_gene': 'GC10P119246', 'score': 0.29}, {'connected_gene': 'LOC105378511', 'score': 0.22}, {'connected_gene': 'GRK5', 'score': 0.19}]
chr10 GH10I119219 119219503 119224252 1.21 [{'connected_gene': 'TIAL1', 'score': 31.78}, {'connected_gene': 'SEC23IP', 'score': 27.72}, {'connected_gene': 'SFXN4', 'score': 24.34}, {'connected_gene': 'RPL17P36', 'score': 19.04}, {'connected_gene': 'MCMBP', 'score': 14.29}, {'connected_gene': 'RN7SL749P', 'score': 0.44}, {'connected_gene': 'GRK5', 'score': 0.39}, {'connected_gene': 'GC10P119246', 'score': 0.34}]
chr10 GH10I119594 119594834 119598085 2.09 [{'connected_gene': 'TIAL1', 'score': 575.61}, {'connected_gene': 'LOC105378512', 'score': 550.77}, {'connected_gene': 'GC10P119597', 'score': 550.77}, {'connected_gene': 'SEC23IP', 'score': 24.02}, {'connected_gene': 'MCMBP', 'score': 21.86}, {'connected_gene': 'ENSG00000271353', 'score': 5.36}, {'connected_gene': 'RGS10', 'score': 4.96}]
chr10 GH10I120850 120850540 120852993 2.11 [{'connected_gene': 'WDR11', 'score': 628.14}, {'connected_gene': 'WDR11-AS1', 'score': 550.77}, {'connected_gene': 'SEC23IP', 'score': 28.64}, {'connected_gene': 'MCMBP', 'score': 9.77}, {'connected_gene': 'ENSG00000271670', 'score': 0.31}]
chr10 GH10I119848 119848125 119851265 0.38 [{'connected_gene': 'INPP5F', 'score': 20.17}, {'connected_gene': 'MCMBP', 'score': 17.99}, {'connected_gene': 'SEC23IP', 'score': 10.92}, {'connected_gene': 'BAG3', 'score': 10.5}, {'connected_gene': 'EIF3A', 'score': 9.16}, {'connected_gene': 'ENSG00000222588', 'score': 9.16}, {'connected_gene': 'SNORA19', 'score': 9.16}, {'connected_gene': 'ENSG00000282413', 'score': 0.29}]
chr10 GH10I119759 119759787 119762329 0.79 [{'connected_gene': 'INPP5F', 'score': 24.06}, {'connected_gene': 'MCMBP', 'score': 11.77}, {'connected_gene': 'SEC23IP', 'score': 10.84}, {'connected_gene': 'GC10P119759', 'score': 0.77}, {'connected_gene': 'RN7SL846P', 'score': 0.44}]
chr10 GH10I119677 119677923 119683217 1.26 [{'connected_gene': 'INPP5F', 'score': 18.97}, {'connected_gene': 'TIAL1', 'score': 17.51}, {'connected_gene': 'SEC23IP', 'score': 15.95}, {'connected_gene': 'MCMBP', 'score': 13.03}, {'connected_gene': 'RPL17P36', 'score': 10.74}, {'connected_gene': 'TXNP1', 'score': 8.67}, {'connected_gene': 'BAG3', 'score': 7.94}]
chr10 GH10I119313 119313373 119320166 1.72 [{'connected_gene': 'SEC23IP', 'score': 27.76}, {'connected_gene': 'TIAL1', 'score': 21.84}, {'connected_gene': 'MCMBP', 'score': 14.29}, {'connected_gene': 'RPL17P36', 'score': 10.05}, {'connected_gene': 'LOC105378511', 'score': 0.37}, {'connected_gene': 'GC10P119246', 'score': 0.19}, {'connected_gene': 'GRK5', 'score': 0.14}]
chr10 GH10I119859 119859509 119859658 0.59 [{'connected_gene': 'SEC23IP', 'score': 11.54}, {'connected_gene': 'INPP5F', 'score': 10.98}, {'connected_gene': 'BAG3', 'score': 10.37}, {'connected_gene': 'MCMBP', 'score': 0.29}, {'connected_gene': 'ENSG00000282413', 'score': 0.26}]
chr10 GH10I119333 119333424 119338887 1.13 [{'connected_gene': 'LOC105378511', 'score': 550.77}, {'connected_gene': 'TIAL1', 'score': 17.4}, {'connected_gene': 'SEC23IP', 'score': 15.9}, {'connected_gene': 'RPL17P36', 'score': 14.56}, {'connected_gene': 'MCMBP', 'score': 12.98}, {'connected_gene': 'GC10P119246', 'score': 0.17}, {'connected_gene': 'GRK5', 'score': 0.13}]