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
ENST00000560741 [[89179383, 89179523], [89182573, 89182825], [89195340, 89195541], [89198645, 89198852]] [[89182597, 89182825], [89195340, 89195541], [89198645, 89198762]]
ENST00000558992 [[89179400, 89179523], [89180592, 89180659]] None
ENST00000306072 [[89181973, 89182307], [89182573, 89182825], [89195340, 89195541], [89198645, 89199714]] [[89182597, 89182825], [89195340, 89195541], [89198645, 89198762]]
ENST00000379224 [[89182171, 89182307], [89182573, 89182825], [89193465, 89193617]] [[89182597, 89182825], [89193465, 89193501]]
ENST00000559876 [[89182183, 89182307], [89182573, 89182825], [89195400, 89195541], [89198645, 89198742]] [[89182597, 89182825], [89195400, 89195541], [89198645, 89198742]]
ENST00000558942 [[89182193, 89182307], [89182573, 89182825], [89193465, 89195541], [89198645, 89198847]] None
ENST00000560573 [[89182273, 89182409], [89182573, 89182825], [89193465, 89195541], [89198645, 89198879]] None
ENST00000557824 [[89190142, 89195541], [89198645, 89198880]] None
ENST00000558236 [[89191050, 89191233], [89195340, 89195417]] None
ENST00000560746 [[89193483, 89193560], [89194596, 89194812], [89195340, 89195541], [89198645, 89198881]] None
ENST00000546338 [[89195266, 89195541], [89198650, 89198856]] None
NR_130134 [[89178867, 89178931], [89195340, 89195541], [89198645, 89199575]] None
NM_001303235 [[89178867, 89178931], [89193465, 89195541], [89198645, 89199575]] [[89195145, 89195541], [89198645, 89198762]]
NM_001303233 [[89178867, 89178931], [89182573, 89182825], [89195340, 89195541], [89198645, 89199575]] [[89182597, 89182825], [89195340, 89195541], [89198645, 89198762]]
NM_001303234 [[89178867, 89178931], [89179397, 89179523], [89182573, 89182825], [89195340, 89195541], [89198645, 89199575]] [[89182597, 89182825], [89195340, 89195541], [89198645, 89198762]]
NM_001303237 [[89181973, 89182307], [89182573, 89182825], [89195400, 89195541], [89198645, 89199575]] [[89182597, 89182825], [89195400, 89195541], [89198645, 89198762]]
NM_002201 [[89181973, 89182307], [89182573, 89182825], [89195340, 89195541], [89198645, 89199575]] [[89182597, 89182825], [89195340, 89195541], [89198645, 89198762]]
NM_001303236 [[89181973, 89182409], [89182573, 89182825], [89193465, 89195541], [89198645, 89199575]] [[89195145, 89195541], [89198645, 89198762]]
Promoter
Chrom Start End Description
chr15 89178835 89178856 CAGE_peak_7_at_ISG20_5end
chr15 89178857 89178898 CAGE_peak_3_at_ISG20_5end
chr15 89182034 89182039 CAGE_peak_8_at_ISG20_5end
chr15 89182156 89182177 CAGE_peak_6_at_ISG20_5end
chr15 89182178 89182202 CAGE_peak_4_at_ISG20_5end
chr15 89182208 89182225 CAGE_peak_5_at_ISG20_5end
chr15 89182240 89182265 CAGE_peak_1_at_ISG20_5end
chr15 89182269 89182283 CAGE_peak_2_at_ISG20_5end
chr15 89182552 89182578 CAGE_peak_9_at_ISG20_5end
chr15 89182587 89182600 CAGE_peak_11_at_ISG20_5end
chr15 89191020 89191067 CAGE_peak_13_at_ISG20_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I088620 88620624 88632285 2.26 [{'connected_gene': 'AEN', 'score': 557.3}, {'connected_gene': 'POLG', 'score': 19.76}, {'connected_gene': 'FANCI', 'score': 10.39}, {'connected_gene': 'ISG20', 'score': 9.43}, {'connected_gene': 'PIR37400', 'score': 0.44}, {'connected_gene': 'GC15M088633', 'score': 0.44}, {'connected_gene': 'MIR3529', 'score': 0.39}]
chr15 GH15I088662 88662250 88662399 0.31 [{'connected_gene': 'AEN', 'score': 12.17}, {'connected_gene': 'MIR7-2', 'score': 10.58}, {'connected_gene': 'ENSG00000173867', 'score': 10.51}, {'connected_gene': 'MRPL46', 'score': 10.49}, {'connected_gene': 'MRPS11', 'score': 10.49}, {'connected_gene': 'ISG20', 'score': 0.31}, {'connected_gene': 'PIR50540', 'score': 0.29}]
chr15 GH15I088664 88664530 88664679 0.49 [{'connected_gene': 'AEN', 'score': 12.17}, {'connected_gene': 'MIR7-2', 'score': 10.58}, {'connected_gene': 'ENSG00000173867', 'score': 10.51}, {'connected_gene': 'MRPL46', 'score': 10.49}, {'connected_gene': 'MRPS11', 'score': 10.49}, {'connected_gene': 'ISG20', 'score': 0.31}, {'connected_gene': 'PIR50540', 'score': 0.29}]
chr15 GH15I088562 88562862 88564412 0.84 [{'connected_gene': 'POLG', 'score': 12.8}, {'connected_gene': 'FANCI', 'score': 12.53}, {'connected_gene': 'LINC01586', 'score': 7.32}, {'connected_gene': 'ISG20', 'score': 4.78}, {'connected_gene': 'ENSG00000173867', 'score': 4.78}, {'connected_gene': 'ENSG00000259569', 'score': 0.77}, {'connected_gene': 'DET1', 'score': 0.37}]
chr15 GH15I088681 88681518 88682196 0.72 [{'connected_gene': 'MIR7-2', 'score': 11.16}, {'connected_gene': 'AEN', 'score': 10.83}, {'connected_gene': 'PIR50540', 'score': 0.37}, {'connected_gene': 'ISG20', 'score': 0.25}]
chr15 GH15I088659 88659186 88660345 0.78 [{'connected_gene': 'ISG20', 'score': 16.03}, {'connected_gene': 'AEN', 'score': 11.96}, {'connected_gene': 'ENSG00000173867', 'score': 10.7}, {'connected_gene': 'MRPS11', 'score': 10.67}, {'connected_gene': 'MRPL46', 'score': 10.67}, {'connected_gene': 'HAPLN3', 'score': 10.26}, {'connected_gene': 'ACAN', 'score': 5.06}, {'connected_gene': 'PIR50540', 'score': 0.28}]
chr15 GH15I088652 88652586 88653378 0.63 [{'connected_gene': 'ISG20', 'score': 13.32}, {'connected_gene': 'AEN', 'score': 11.99}, {'connected_gene': 'POLG', 'score': 4.58}, {'connected_gene': 'PIR50540', 'score': 0.26}]
chr15 GH15I088655 88655070 88658039 1.19 [{'connected_gene': 'ISG20', 'score': 27.59}, {'connected_gene': 'AEN', 'score': 12.63}, {'connected_gene': 'MIR7-2', 'score': 11.32}, {'connected_gene': 'ENSG00000173867', 'score': 10.7}, {'connected_gene': 'MRPS11', 'score': 10.67}, {'connected_gene': 'MRPL46', 'score': 10.67}, {'connected_gene': 'HAPLN3', 'score': 10.26}, {'connected_gene': 'PIR50540', 'score': 0.26}]
chr15 GH15I088634 88634201 88642965 2.82 [{'connected_gene': 'ISG20', 'score': 585.21}, {'connected_gene': 'AEN', 'score': 7.42}, {'connected_gene': 'ABHD2', 'score': 1.8}, {'connected_gene': 'PIR50540', 'score': 0.22}]
chr15 GH15I088644 88644450 88646956 0.54 [{'connected_gene': 'ISG20', 'score': 11.32}, {'connected_gene': 'PIR50540', 'score': 0.23}]
chr15 GH15I088647 88647037 88652330 1.23 [{'connected_gene': 'ISG20', 'score': 13.22}, {'connected_gene': 'PIR50540', 'score': 0.25}]
chr15 GH15I089124 89124978 89141178 1.74 [{'connected_gene': 'ABHD2', 'score': 37.68}, {'connected_gene': 'LOC102724566', 'score': 10.78}, {'connected_gene': 'DET1', 'score': 6.08}, {'connected_gene': 'ISG20', 'score': 1.35}, {'connected_gene': 'HMGB1P8', 'score': 0.77}, {'connected_gene': 'GC15M089136', 'score': 0.77}, {'connected_gene': 'RNU7-195P', 'score': 0.39}]
chr15 GH15I089086 89086690 89095682 2.57 [{'connected_gene': 'ABHD2', 'score': 561.49}, {'connected_gene': 'LOC102724566', 'score': 13.74}, {'connected_gene': 'POLG', 'score': 13.05}, {'connected_gene': 'RNU7-195P', 'score': 12.81}, {'connected_gene': 'ENSG00000261407', 'score': 11.51}, {'connected_gene': 'LOC100631255', 'score': 10.74}, {'connected_gene': 'FANCI', 'score': 10.46}, {'connected_gene': 'TICRR', 'score': 9.8}, {'connected_gene': 'HAPLN3', 'score': 1.84}, {'connected_gene': 'ISG20', 'score': 1.66}, {'connected_gene': 'GC15M089095', 'score': 0.39}]
chr15 GH15I088611 88611770 88611919 0.2 [{'connected_gene': 'MIR3529', 'score': 550.77}, {'connected_gene': 'GC15P088613', 'score': 550.77}, {'connected_gene': 'GC15P088612', 'score': 550.77}, {'connected_gene': 'MIR7-2', 'score': 550.77}, {'connected_gene': 'ISG20', 'score': 4.85}, {'connected_gene': 'AEN', 'score': 0.44}]
chr15 GH15I088633 88633075 88633920 0.31 [{'connected_gene': 'PIR37400', 'score': 550.77}, {'connected_gene': 'GC15M088633', 'score': 550.77}, {'connected_gene': 'ISG20', 'score': 11.17}]