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
ENST00000556029 [[98909289, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98938007, 98938127], [98938219, 98938315], [98938728, 98938839], [98940136, 98940225], [98941350, 98944157]] [[98909645, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98938007, 98938127], [98938219, 98938315], [98938728, 98938839], [98940136, 98940225], [98941350, 98941636]]
ENST00000548911 [[98909356, 98909592], [98909748, 98909924], [98921663, 98921791]] None
ENST00000343315 [[98909395, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98938219, 98938315], [98938728, 98938839], [98940136, 98940225], [98941350, 98942606]] [[98909645, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98938219, 98938315], [98938728, 98938839], [98940136, 98940225], [98941350, 98941636]]
ENST00000266732 [[98909407, 98909924], [98921663, 98921790], [98925457, 98925616], [98926600, 98929412]] [[98909645, 98909924], [98921663, 98921790], [98925457, 98925616], [98926600, 98928120]]
ENST00000393053 [[98909408, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98940136, 98940225], [98941350, 98942735]] [[98909645, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98940136, 98940225], [98941350, 98941636]]
ENST00000546828 [[98909409, 98909563], [98909741, 98909924], [98921663, 98921790], [98925457, 98925557]] None
ENST00000261210 [[98909629, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931491]] [[98909645, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931434]]
ENST00000549938 [[98910029, 98910295], [98921663, 98921790], [98925457, 98925616], [98926600, 98926744]] None
ENST00000552831 [[98921306, 98921790], [98925457, 98925616], [98931252, 98931352]] None
ENST00000547214 [[98921662, 98921790], [98925457, 98926050]] None
ENST00000556678 [[98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98938728, 98938839], [98940136, 98940225], [98941350, 98941479]] [[98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98938728, 98938839], [98940136, 98940225], [98941350, 98941479]]
ENST00000548223 [[98937979, 98938127], [98938219, 98938315], [98938728, 98938839], [98940136, 98940225], [98941350, 98941642]] None
ENST00000551987 [[98938416, 98938839], [98940136, 98940225], [98941350, 98941565]] None
NM_003276 [[98909350, 98909924], [98921663, 98921790], [98925457, 98925616], [98926600, 98929412]] [[98909645, 98909924], [98921663, 98921790], [98925457, 98925616], [98926600, 98928120]]
NM_001032284 [[98909350, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98940136, 98940225], [98941350, 98944157]] [[98909645, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98940136, 98940225], [98941350, 98941636]]
NM_001307975 [[98909350, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98938219, 98938315], [98938728, 98938839], [98940136, 98940225], [98941350, 98944157]] [[98909645, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98938219, 98938315], [98938728, 98938839], [98940136, 98940225], [98941350, 98941636]]
NM_001032283 [[98909350, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98938007, 98938127], [98938219, 98938315], [98938728, 98938839], [98940136, 98940225], [98941350, 98944157]] [[98909645, 98909924], [98921663, 98921790], [98925457, 98925616], [98931252, 98931350], [98938007, 98938127], [98938219, 98938315], [98938728, 98938839], [98940136, 98940225], [98941350, 98941636]]
Promoter
Chrom Start End Description
chr12 98909260 98909273 CAGE_peak_4_at_TMPO_5end
chr12 98909351 98909454 CAGE_peak_1_at_TMPO_5end
chr12 98909460 98909474 CAGE_peak_2_at_TMPO_5end
chr12 98909520 98909531 CAGE_peak_3_at_TMPO_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I098421 98421042 98422365 0.2 [{'connected_gene': 'TMPO', 'score': 16.87}, {'connected_gene': 'LINC02453', 'score': 11.11}, {'connected_gene': 'RNU4-41P', 'score': 0.77}, {'connected_gene': 'GC12M098419', 'score': 0.77}]
chr12 GH12I098422 98422883 98423152 0.43 [{'connected_gene': 'TMPO', 'score': 11.34}, {'connected_gene': 'LINC02453', 'score': 11.11}, {'connected_gene': 'RNU4-41P', 'score': 0.77}, {'connected_gene': 'GC12M098419', 'score': 0.77}]
chr12 GH12I098499 98499346 98501739 1.19 [{'connected_gene': 'TMPO', 'score': 14.22}, {'connected_gene': 'SLC9A7P1', 'score': 8.04}, {'connected_gene': 'GC12P098505', 'score': 0.77}, {'connected_gene': 'LINC02453', 'score': 0.77}, {'connected_gene': 'GC12P098497', 'score': 0.77}]
chr12 GH12I098489 98489303 98489452 0.2 [{'connected_gene': 'TMPO', 'score': 11.82}, {'connected_gene': 'RNU4-41P', 'score': 10.17}, {'connected_gene': 'GC12M098479', 'score': 0.44}, {'connected_gene': 'GC12P098497', 'score': 0.44}, {'connected_gene': 'LINC02453', 'score': 0.39}]
chr12 GH12I098490 98489454 98493683 1.59 [{'connected_gene': 'TMPO', 'score': 17.13}, {'connected_gene': 'RNU4-41P', 'score': 10.17}, {'connected_gene': 'SLC9A7P1', 'score': 8.07}, {'connected_gene': 'GC12P098497', 'score': 0.44}, {'connected_gene': 'GC12M098479', 'score': 0.39}, {'connected_gene': 'LINC02453', 'score': 0.39}]
chr12 GH12I098521 98520201 98520400 0.88 [{'connected_gene': 'TMPO', 'score': 16.25}, {'connected_gene': 'RNU4-41P', 'score': 11.35}, {'connected_gene': 'GC12P098518', 'score': 0.77}, {'connected_gene': 'GC12M098524', 'score': 0.77}]
chr12 GH12I098512 98512629 98519609 2.51 [{'connected_gene': 'TMPO', 'score': 610.14}, {'connected_gene': 'TMPO-AS1', 'score': 555.99}, {'connected_gene': 'GC12M098515', 'score': 550.77}, {'connected_gene': 'GC12P098518', 'score': 550.77}, {'connected_gene': 'RNU4-41P', 'score': 11.36}, {'connected_gene': 'SLC9A7P1', 'score': 7.14}, {'connected_gene': 'LINC02453', 'score': 5.39}]
chr12 GH12I098148 98148920 98150376 0.56 [{'connected_gene': 'TMPO', 'score': 4.91}, {'connected_gene': 'GC12M098067', 'score': 0.2}, {'connected_gene': 'GC12M098270', 'score': 0.11}, {'connected_gene': 'ENSG00000258312', 'score': 0.11}]
chr12 GH12I098474 98474830 98476072 0.86 [{'connected_gene': 'LINC02453', 'score': 12.09}, {'connected_gene': 'TMPO', 'score': 11.35}, {'connected_gene': 'RNU4-41P', 'score': 10.59}, {'connected_gene': 'SLC9A7P1', 'score': 6.85}, {'connected_gene': 'GC12M098470', 'score': 0.77}, {'connected_gene': 'GC12M098479', 'score': 0.44}]
chr12 GH12I098527 98527303 98528358 0.31 [{'connected_gene': 'LINC02453', 'score': 11.54}, {'connected_gene': 'RNU4-41P', 'score': 11.4}, {'connected_gene': 'PPIAP8', 'score': 10.97}, {'connected_gene': 'SLC25A3', 'score': 10.96}, {'connected_gene': 'TMPO', 'score': 4.86}, {'connected_gene': 'GC12M098524', 'score': 0.77}, {'connected_gene': 'GC12M098549', 'score': 0.34}]
chr12 GH12I098592 98592385 98596646 2.07 [{'connected_gene': 'SLC25A3', 'score': 561.43}, {'connected_gene': 'GC12M098595', 'score': 550.77}, {'connected_gene': 'TMPO', 'score': 52.79}, {'connected_gene': 'IKBIP', 'score': 11.12}, {'connected_gene': 'APAF1', 'score': 11.12}, {'connected_gene': 'TMPO-AS1', 'score': 10.02}]
chr12 GH12I098643 98643095 98647237 2.06 [{'connected_gene': 'IKBIP', 'score': 572.77}, {'connected_gene': 'APAF1', 'score': 550.77}, {'connected_gene': 'TMPO', 'score': 21.72}, {'connected_gene': 'SLC25A3', 'score': 18.15}, {'connected_gene': 'PPIAP8', 'score': 11.31}, {'connected_gene': 'GC12P098649', 'score': 0.77}]
chr12 GH12I098463 98463141 98465397 1.01 [{'connected_gene': 'SLC9A7P1', 'score': 24.75}, {'connected_gene': 'LINC02453', 'score': 18.26}, {'connected_gene': 'TMPO', 'score': 10.81}, {'connected_gene': 'RNU4-41P', 'score': 10.29}, {'connected_gene': 'GC12M098464', 'score': 0.77}, {'connected_gene': 'GC12P098459', 'score': 0.77}]
chr12 GH12I098456 98456634 98457612 1.24 [{'connected_gene': 'SLC9A7P1', 'score': 565.49}, {'connected_gene': 'LINC02453', 'score': 12.16}, {'connected_gene': 'TMPO', 'score': 10.77}, {'connected_gene': 'GC12M098419', 'score': 0.29}]
chr12 GH12I098520 98520946 98521956 0.67 [{'connected_gene': 'RNU4-41P', 'score': 11.35}, {'connected_gene': 'TMPO', 'score': 6.78}, {'connected_gene': 'GC12P098518', 'score': 0.77}, {'connected_gene': 'GC12M098524', 'score': 0.77}]
chr12 GH12I098416 98416801 98420622 0.94 [{'connected_gene': 'RNU4-41P', 'score': 550.77}, {'connected_gene': 'LINC02453', 'score': 18.5}, {'connected_gene': 'TMPO', 'score': 11.33}, {'connected_gene': 'SLC9A7P1', 'score': 4.89}, {'connected_gene': 'GC12M098419', 'score': 0.44}]
chr12 GH12I098532 98532663 98534492 0.82 [{'connected_gene': 'RNU4-41P', 'score': 11.6}, {'connected_gene': 'LINC02453', 'score': 11.15}, {'connected_gene': 'SNORA53', 'score': 10.35}, {'connected_gene': 'IKBIP', 'score': 10.0}, {'connected_gene': 'APAF1', 'score': 10.0}, {'connected_gene': 'SLC9A7P1', 'score': 7.11}, {'connected_gene': 'GC12M098524', 'score': 0.44}, {'connected_gene': 'TMPO', 'score': 0.37}, {'connected_gene': 'GC12M098549', 'score': 0.37}]
chr12 GH12I098573 98573736 98575738 0.75 [{'connected_gene': 'GC12P098574', 'score': 550.77}, {'connected_gene': 'TMPO', 'score': 6.4}, {'connected_gene': 'SLC9A7P1', 'score': 5.07}, {'connected_gene': 'GC12M098576', 'score': 0.77}]
chr12 GH12I098509 98509163 98509332 0.87 [{'connected_gene': 'GC12M098507', 'score': 550.77}, {'connected_gene': 'TMPO', 'score': 0.44}]
chr12 GH12I098424 98424416 98425593 1.18 [{'connected_gene': 'GC12M098419', 'score': 550.77}, {'connected_gene': 'LINC02453', 'score': 18.73}, {'connected_gene': 'TMPO', 'score': 11.34}, {'connected_gene': 'SLC9A7P1', 'score': 5.11}, {'connected_gene': 'RNU4-41P', 'score': 0.44}]
chr12 GH12I098525 98525698 98526518 0.31 [{'connected_gene': 'GC12M098524', 'score': 550.77}, {'connected_gene': 'LINC02453', 'score': 11.54}, {'connected_gene': 'RNU4-41P', 'score': 11.4}, {'connected_gene': 'SLC25A3', 'score': 10.96}, {'connected_gene': 'PPIAP8', 'score': 10.96}, {'connected_gene': 'TMPO', 'score': 5.03}, {'connected_gene': 'GC12M098549', 'score': 0.34}]
chr12 GH12I098466 98466383 98466532 0.2 [{'connected_gene': 'GC12M098464', 'score': 550.77}, {'connected_gene': 'SLC9A7P1', 'score': 24.75}, {'connected_gene': 'LINC02453', 'score': 11.4}, {'connected_gene': 'TMPO', 'score': 10.52}, {'connected_gene': 'RNU4-41P', 'score': 10.18}, {'connected_gene': 'GC12P098459', 'score': 0.44}]
chr12 GH12I098502 98502463 98505331 1.82 [{'connected_gene': 'GC12P098505', 'score': 550.77}, {'connected_gene': 'TRD-GTC1-1', 'score': 550.77}, {'connected_gene': 'LINC02453', 'score': 550.77}, {'connected_gene': 'TRW-CCA4-1', 'score': 550.77}, {'connected_gene': 'TMPO', 'score': 18.11}, {'connected_gene': 'SLC9A7P1', 'score': 10.28}, {'connected_gene': 'SLC25A3', 'score': 5.47}]