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
ENST00000305557 [[74652962, 74653701], [74654295, 74654400], [74654550, 74654719], [74655394, 74655523], [74655757, 74655864], [74655974, 74656069], [74656954, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659793], [74666677, 74667104], [74667479, 74667710]] [[74653369, 74653701], [74654295, 74654400], [74654550, 74654719], [74655394, 74655523], [74655757, 74655864], [74655974, 74656069], [74656954, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659793], [74666677, 74666749]]
ENST00000272430 [[74653002, 74653701], [74654295, 74654400], [74654550, 74654719], [74655394, 74655523], [74655757, 74655864], [74655974, 74656069], [74656954, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659793], [74668832, 74669026]] [[74653369, 74653701], [74654295, 74654400], [74654550, 74654719], [74655394, 74655523], [74655757, 74655864], [74655974, 74656069], [74656954, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659793], [74668832, 74668943]]
ENST00000233330 [[74653009, 74653701], [74654295, 74654400], [74654550, 74654719], [74655394, 74655523], [74655757, 74655864], [74655974, 74656069], [74656954, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659793], [74667479, 74667758]] [[74653369, 74653701], [74654295, 74654400], [74654550, 74654719], [74655394, 74655523], [74655757, 74655864], [74655974, 74656069], [74656954, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659754]]
ENST00000492013 [[74653532, 74653701], [74654295, 74654400], [74654550, 74655129]] None
ENST00000469859 [[74657154, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74658056]] None
ENST00000479256 [[74657381, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659703], [74669326, 74669549]] None
ENST00000472518 [[74658881, 74659793], [74668832, 74669025]] None
ENST00000464094 [[74659185, 74659793], [74666677, 74667104], [74667479, 74667710]] None
ENST00000460968 [[74659598, 74659793], [74666677, 74667324]] None
ENST00000484453 [[74659687, 74659793], [74668832, 74669546]] None
NM_033046 [[74652987, 74653701], [74654295, 74654400], [74654550, 74654719], [74655394, 74655523], [74655757, 74655864], [74655974, 74656069], [74656954, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659793], [74666677, 74667104], [74667479, 74667710]] [[74653369, 74653701], [74654295, 74654400], [74654550, 74654719], [74655394, 74655523], [74655757, 74655864], [74655974, 74656069], [74656954, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659793], [74666677, 74666749]]
NM_001015056 [[74652987, 74653701], [74654295, 74654400], [74654550, 74654719], [74655394, 74655523], [74655757, 74655864], [74655974, 74656069], [74656954, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659793], [74667479, 74667710]] [[74653369, 74653701], [74654295, 74654400], [74654550, 74654719], [74655394, 74655523], [74655757, 74655864], [74655974, 74656069], [74656954, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659754]]
NM_001015055 [[74652987, 74653701], [74654295, 74654400], [74654550, 74654719], [74655394, 74655523], [74655757, 74655864], [74655974, 74656069], [74656954, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659793], [74668832, 74669060]] [[74653369, 74653701], [74654295, 74654400], [74654550, 74654719], [74655394, 74655523], [74655757, 74655864], [74655974, 74656069], [74656954, 74657164], [74657378, 74657496], [74657591, 74657645], [74657742, 74657804], [74659593, 74659793], [74668832, 74668943]]
Promoter
Chrom Start End Description
chr2 74666983 74667014 CAGE_peak_4_at_RTKN_5end
chr2 74667031 74667042 CAGE_peak_10_at_RTKN_5end
chr2 74667046 74667051 CAGE_peak_20_at_RTKN_5end
chr2 74667061 74667078 CAGE_peak_3_at_RTKN_5end
chr2 74667096 74667103 CAGE_peak_11_at_RTKN_5end
chr2 74667551 74667565 CAGE_peak_8_at_RTKN_5end
chr2 74667574 74667594 CAGE_peak_6_at_RTKN_5end
chr2 74667612 74667715 CAGE_peak_2_at_RTKN_5end
chr2 74667879 74667890 CAGE_peak_17_at_RTKN_5end
chr2 74669009 74669077 CAGE_peak_1_at_RTKN_5end
chr2 74669383 74669398 CAGE_peak_7_at_RTKN_5end
chr2 74669468 74669481 CAGE_peak_18_at_RTKN_5end
chr2 74669504 74669520 CAGE_peak_9_at_RTKN_5end
chr2 74669530 74669557 CAGE_peak_5_at_RTKN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I074566 74566300 74569355 1.26 [{'connected_gene': 'LBX2', 'score': 13.64}, {'connected_gene': 'WBP1', 'score': 12.66}, {'connected_gene': 'HTRA2', 'score': 11.56}, {'connected_gene': 'AUP1', 'score': 11.56}, {'connected_gene': 'TLX2', 'score': 10.94}, {'connected_gene': 'PCGF1', 'score': 10.93}, {'connected_gene': 'MRPL53', 'score': 10.49}, {'connected_gene': 'MOGS', 'score': 10.48}, {'connected_gene': 'DQX1', 'score': 10.43}, {'connected_gene': 'RTKN', 'score': 10.0}, {'connected_gene': 'M1AP', 'score': 9.24}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'DOK1', 'score': 3.64}, {'connected_gene': 'LOXL3', 'score': 1.87}, {'connected_gene': 'GC02M074608', 'score': 0.28}, {'connected_gene': 'GC02M074606', 'score': 0.28}]
chr2 GH02I074420 74420057 74428198 2.44 [{'connected_gene': 'WDR54', 'score': 550.77}, {'connected_gene': 'ENSG00000272183', 'score': 20.38}, {'connected_gene': 'LBX2', 'score': 13.94}, {'connected_gene': 'LBX2-AS1', 'score': 13.85}, {'connected_gene': 'C2orf81', 'score': 3.19}, {'connected_gene': 'SLC4A5', 'score': 1.83}, {'connected_gene': 'DCTN1', 'score': 1.76}, {'connected_gene': 'ENSG00000159239', 'score': 0.77}, {'connected_gene': 'GC02M074419', 'score': 0.77}, {'connected_gene': 'PIR40772', 'score': 0.77}, {'connected_gene': 'RTKN', 'score': 0.37}]
chr2 GH02I074438 74438956 74443155 2.26 [{'connected_gene': 'RTKN', 'score': 550.77}, {'connected_gene': 'ENSG00000272183', 'score': 19.41}, {'connected_gene': 'SLC4A5', 'score': 14.01}, {'connected_gene': 'WBP1', 'score': 11.23}, {'connected_gene': 'ALMS1P1', 'score': 9.74}, {'connected_gene': 'GC02M074442', 'score': 0.39}, {'connected_gene': 'GC02M074444', 'score': 0.39}, {'connected_gene': 'GC02M074419', 'score': 0.37}]
chr2 GH02I074444 74444001 74444807 1.02 [{'connected_gene': 'RTKN', 'score': 550.77}, {'connected_gene': 'GC02M074442', 'score': 0.39}, {'connected_gene': 'GC02M074444', 'score': 0.39}]
chr2 GH02I074447 74447694 74447843 1 [{'connected_gene': 'RTKN', 'score': 0.44}, {'connected_gene': 'GC02M074442', 'score': 0.44}, {'connected_gene': 'GC02M074444', 'score': 0.44}]
chr2 GH02I074436 74436974 74437123 0.52 [{'connected_gene': 'RTKN', 'score': 0.44}, {'connected_gene': 'GC02M074419', 'score': 0.37}]
chr2 GH02I074328 74328199 74328258 0.73 [{'connected_gene': 'SLC4A5', 'score': 550.37}, {'connected_gene': 'RTKN', 'score': 10.26}, {'connected_gene': 'C2orf81', 'score': 9.67}, {'connected_gene': 'WDR54', 'score': 9.67}, {'connected_gene': 'ENSG00000159239', 'score': 9.67}, {'connected_gene': 'RNU6-542P', 'score': 0.44}, {'connected_gene': 'ENSG00000264324', 'score': 0.28}]
chr2 GH02I074266 74266714 74267895 0.84 [{'connected_gene': 'SLC4A5', 'score': 10.91}, {'connected_gene': 'C2orf81', 'score': 9.96}, {'connected_gene': 'WDR54', 'score': 9.96}, {'connected_gene': 'ENSG00000159239', 'score': 9.96}, {'connected_gene': 'RTKN', 'score': 9.95}, {'connected_gene': 'KRT18P26', 'score': 0.26}, {'connected_gene': 'GC02P074217', 'score': 0.23}, {'connected_gene': 'ENSG00000264324', 'score': 0.15}]
chr2 GH02I074261 74261634 74261783 0.69 [{'connected_gene': 'SLC4A5', 'score': 10.36}, {'connected_gene': 'C2orf81', 'score': 9.68}, {'connected_gene': 'WDR54', 'score': 9.68}, {'connected_gene': 'ENSG00000159239', 'score': 9.68}, {'connected_gene': 'RTKN', 'score': 9.67}, {'connected_gene': 'KRT18P26', 'score': 0.25}, {'connected_gene': 'GC02P074217', 'score': 0.25}, {'connected_gene': 'ENSG00000264324', 'score': 0.15}]
chr2 GH02I074250 74250214 74250363 0.6 [{'connected_gene': 'SLC4A5', 'score': 10.59}, {'connected_gene': 'BOLA3', 'score': 10.5}, {'connected_gene': 'BOLA3-AS1', 'score': 10.5}, {'connected_gene': 'C2orf81', 'score': 9.87}, {'connected_gene': 'WDR54', 'score': 9.87}, {'connected_gene': 'ENSG00000159239', 'score': 9.87}, {'connected_gene': 'RTKN', 'score': 9.86}, {'connected_gene': 'GC02P074217', 'score': 0.29}, {'connected_gene': 'KRT18P26', 'score': 0.22}, {'connected_gene': 'ENSG00000264324', 'score': 0.14}]
chr2 GH02I074570 74570655 74574999 1.52 [{'connected_gene': 'AUP1', 'score': 26.44}, {'connected_gene': 'MOGS', 'score': 24.76}, {'connected_gene': 'PCGF1', 'score': 24.2}, {'connected_gene': 'HTRA2', 'score': 22.96}, {'connected_gene': 'DOK1', 'score': 17.38}, {'connected_gene': 'TTC31', 'score': 15.05}, {'connected_gene': 'CCDC142', 'score': 14.17}, {'connected_gene': 'DUSP11', 'score': 13.27}, {'connected_gene': 'LBX2-AS1', 'score': 12.57}, {'connected_gene': 'MOB1A', 'score': 11.97}, {'connected_gene': 'ENSG00000273245', 'score': 11.13}, {'connected_gene': 'LBX2', 'score': 11.09}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'DQX1', 'score': 10.86}, {'connected_gene': 'MRPL53', 'score': 10.56}, {'connected_gene': 'WBP1', 'score': 10.54}, {'connected_gene': 'RTKN', 'score': 9.99}, {'connected_gene': 'M1AP', 'score': 9.25}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'LOXL3', 'score': 0.37}, {'connected_gene': 'GC02M074608', 'score': 0.29}, {'connected_gene': 'GC02M074606', 'score': 0.29}]
chr2 GH02I074428 74428491 74432314 1.1 [{'connected_gene': 'AUP1', 'score': 5.1}, {'connected_gene': 'GC02M074419', 'score': 0.44}, {'connected_gene': 'RTKN', 'score': 0.39}]
chr2 GH02I074397 74397103 74397183 0.22 [{'connected_gene': 'C2orf81', 'score': 11.32}, {'connected_gene': 'WDR54', 'score': 11.32}, {'connected_gene': 'ENSG00000159239', 'score': 11.32}, {'connected_gene': 'RTKN', 'score': 11.23}, {'connected_gene': 'BOLA3', 'score': 9.11}, {'connected_gene': 'BOLA3-AS1', 'score': 9.11}, {'connected_gene': 'DCTN1', 'score': 0.44}, {'connected_gene': 'ENSG00000234521', 'score': 0.37}]
chr2 GH02I074219 74219529 74219927 0.47 [{'connected_gene': 'BOLA3', 'score': 10.74}, {'connected_gene': 'BOLA3-AS1', 'score': 10.74}, {'connected_gene': 'SLC4A5', 'score': 10.16}, {'connected_gene': 'C2orf81', 'score': 9.56}, {'connected_gene': 'WDR54', 'score': 9.56}, {'connected_gene': 'ENSG00000159239', 'score': 9.56}, {'connected_gene': 'RTKN', 'score': 9.55}, {'connected_gene': 'GC02P074217', 'score': 0.77}, {'connected_gene': 'KRT18P26', 'score': 0.17}, {'connected_gene': 'ENSG00000264324', 'score': 0.11}]
chr2 GH02I074569 74569535 74570537 0.43 [{'connected_gene': 'HTRA2', 'score': 22.46}, {'connected_gene': 'MOB1A', 'score': 15.02}, {'connected_gene': 'DUSP11', 'score': 14.86}, {'connected_gene': 'DOK1', 'score': 11.89}, {'connected_gene': 'AUP1', 'score': 11.54}, {'connected_gene': 'TTC31', 'score': 11.51}, {'connected_gene': 'ENSG00000273245', 'score': 11.42}, {'connected_gene': 'TLX2', 'score': 10.93}, {'connected_gene': 'PCGF1', 'score': 10.92}, {'connected_gene': 'ACTG2', 'score': 10.91}, {'connected_gene': 'MRPL53', 'score': 10.49}, {'connected_gene': 'MOGS', 'score': 10.48}, {'connected_gene': 'LBX2', 'score': 10.47}, {'connected_gene': 'WBP1', 'score': 10.47}, {'connected_gene': 'DQX1', 'score': 10.43}, {'connected_gene': 'ENSG00000270571', 'score': 10.39}, {'connected_gene': 'RTKN', 'score': 10.0}, {'connected_gene': 'M1AP', 'score': 9.25}, {'connected_gene': 'SEMA4F', 'score': 9.24}, {'connected_gene': 'LOXL3', 'score': 0.39}, {'connected_gene': 'GC02M074608', 'score': 0.28}, {'connected_gene': 'GC02M074606', 'score': 0.28}]
chr2 GH02I074055 74055644 74057465 0.31 [{'connected_gene': 'TET3', 'score': 11.92}, {'connected_gene': 'BOLA3', 'score': 10.62}, {'connected_gene': 'BOLA3-AS1', 'score': 10.62}, {'connected_gene': 'DGUOK', 'score': 10.26}, {'connected_gene': 'ACTG2', 'score': 10.01}, {'connected_gene': 'RTKN', 'score': 9.02}, {'connected_gene': 'DGUOK-AS1', 'score': 7.24}, {'connected_gene': 'ENSG00000279181', 'score': 0.22}, {'connected_gene': 'FNBP1P1', 'score': 0.21}]
chr2 GH02I074575 74575378 74578799 1.4 [{'connected_gene': 'DOK1', 'score': 18.07}, {'connected_gene': 'LOXL3', 'score': 12.36}, {'connected_gene': 'HTRA2', 'score': 11.69}, {'connected_gene': 'AUP1', 'score': 11.69}, {'connected_gene': 'DQX1', 'score': 11.07}, {'connected_gene': 'TLX2', 'score': 11.03}, {'connected_gene': 'PCGF1', 'score': 11.02}, {'connected_gene': 'LBX2', 'score': 10.94}, {'connected_gene': 'CCDC142', 'score': 10.9}, {'connected_gene': 'TTC31', 'score': 10.9}, {'connected_gene': 'RTKN', 'score': 10.38}, {'connected_gene': 'C2orf81', 'score': 9.78}, {'connected_gene': 'WDR54', 'score': 9.78}, {'connected_gene': 'ENSG00000159239', 'score': 9.78}, {'connected_gene': 'MOB1A', 'score': 1.26}, {'connected_gene': 'GC02M074608', 'score': 0.31}, {'connected_gene': 'GC02M074606', 'score': 0.31}, {'connected_gene': 'M1AP', 'score': 0.19}]
chr2 GH02I074204 74204344 74207199 1.11 [{'connected_gene': 'BOLA3-AS1', 'score': 25.32}, {'connected_gene': 'MOB1A', 'score': 17.0}, {'connected_gene': 'BOLA3', 'score': 11.08}, {'connected_gene': 'RTKN', 'score': 9.77}, {'connected_gene': 'LOC107985899', 'score': 9.0}, {'connected_gene': 'MTHFD2', 'score': 0.44}, {'connected_gene': 'GC02P074217', 'score': 0.39}]
chr2 GH02I074363 74363777 74366698 0.31 [{'connected_gene': 'ENSG00000264324', 'score': 550.77}, {'connected_gene': 'SLC4A5', 'score': 11.47}, {'connected_gene': 'RTKN', 'score': 10.35}, {'connected_gene': 'C2orf81', 'score': 10.34}, {'connected_gene': 'WDR54', 'score': 10.34}, {'connected_gene': 'ENSG00000159239', 'score': 10.34}, {'connected_gene': 'INO80B', 'score': 4.57}, {'connected_gene': 'GC02M074371', 'score': 0.39}, {'connected_gene': 'DCTN1', 'score': 0.31}]
chr2 GH02I074334 74334974 74335103 0.72 [{'connected_gene': 'ENSG00000272183', 'score': 12.17}, {'connected_gene': 'C2orf81', 'score': 10.42}, {'connected_gene': 'WDR54', 'score': 10.42}, {'connected_gene': 'ENSG00000159239', 'score': 10.42}, {'connected_gene': 'RTKN', 'score': 10.4}, {'connected_gene': 'SLC4A5', 'score': 0.44}, {'connected_gene': 'RNU6-542P', 'score': 0.37}, {'connected_gene': 'ENSG00000264324', 'score': 0.31}]
chr2 GH02I074452 74452099 74453703 0.52 [{'connected_gene': 'GC02M074442', 'score': 550.77}, {'connected_gene': 'GC02M074444', 'score': 550.77}, {'connected_gene': 'C2orf81', 'score': 11.79}, {'connected_gene': 'WDR54', 'score': 11.79}, {'connected_gene': 'ENSG00000159239', 'score': 11.79}, {'connected_gene': 'RTKN', 'score': 0.39}]
chr2 GH02I074372 74372730 74375248 1.62 [{'connected_gene': 'GC02M074371', 'score': 550.77}, {'connected_gene': 'DCTN1', 'score': 550.37}, {'connected_gene': 'SLC4A5', 'score': 11.28}, {'connected_gene': 'C2orf81', 'score': 10.67}, {'connected_gene': 'WDR54', 'score': 10.67}, {'connected_gene': 'ENSG00000159239', 'score': 10.67}, {'connected_gene': 'RTKN', 'score': 10.63}, {'connected_gene': 'BOLA3', 'score': 9.91}, {'connected_gene': 'BOLA3-AS1', 'score': 9.91}, {'connected_gene': 'ENSG00000272183', 'score': 7.63}, {'connected_gene': 'MOGS', 'score': 5.04}, {'connected_gene': 'ENSG00000264324', 'score': 0.39}]

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