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
ENST00000406053 [[53759809, 53761022], [53831963, 53832052], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [53992513, 53992686]] [[53831966, 53832052], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [53992513, 53992686]]
ENST00000263634 [[53897117, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [53992513, 53992722], [54013957, 54014079]] [[53897639, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [53992513, 53992709]]
ENST00000406687 [[53897455, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [54013421, 54014081]] [[53897639, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978055]]
ENST00000394717 [[53897455, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [54013957, 54014146]] [[53897639, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978055]]
ENST00000352846 [[53897455, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [53992513, 53992722], [54086964, 54087170]] [[53897639, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [53992513, 53992722], [54086964, 54087065]]
ENST00000470916 [[53941712, 53941718], [53943702, 53943880], [53977919, 53978078], [53992513, 53992722], [54013957, 54013986]] None
ENST00000414369 [[53984007, 53984075], [53990618, 53990743], [53992513, 53992722], [54014622, 54014747]] None
ENST00000482339 [[53808340, 53808515], [53830521, 53830655], [53831410, 53831558], [53831894, 53832052], [53833056, 53833215]] None
ENST00000490794 [[53831783, 53832052], [53833056, 53833217], [53833558, 53833596]] None
ENST00000482829 [[53897434, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [53992513, 53992722], [53995248, 53995383]] None
ENST00000470707 [[53897742, 53897827], [53921020, 53921699]] None
ENST00000480522 [[53955908, 53955984], [53956594, 53956707], [53975417, 53975504], [53977919, 53978078], [53992513, 53992698]] None
ENST00000489508 [[53956597, 53956707], [53977919, 53978078], [53992513, 53992722], [53994581, 53994663]] None
ENST00000482134 [[53977920, 53978078], [53992513, 53992722], [53994408, 53994664]] None
NM_001201965 [[53897116, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [54013421, 54013985]] [[53897639, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978055]]
NM_016115 [[53897116, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [53992513, 53992722], [54013957, 54014146]] [[53897639, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [53992513, 53992709]]
NM_145863 [[53897116, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978078], [54013957, 54014146]] [[53897639, 53897827], [53921020, 53921151], [53927407, 53927665], [53941520, 53941718], [53943702, 53943880], [53955848, 53955984], [53956594, 53956707], [53977919, 53978055]]
Promoter
Chrom Start End Description
chr2 54013972 54014032 CAGE_peak_2_at_ASB3_5end,CAGE_peak_2_at_GPR75-ASB3_5end
chr2 54014055 54014123 CAGE_peak_1_at_ASB3_5end,CAGE_peak_1_at_GPR75-ASB3_5end
chr2 54014127 54014151 CAGE_peak_4_at_ASB3_5end,CAGE_peak_4_at_GPR75-ASB3_5end
chr2 54087042 54087053 CAGE_peak_5_at_ASB3_5end,CAGE_peak_5_at_GPR75-ASB3_5end
chr2 54087066 54087151 CAGE_peak_1_at_GPR75_5end,CAGE_peak_3_at_ASB3_5end,CAGE_peak_3_at_GPR75-ASB3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I053820 53820184 53820333 0.2 [{'connected_gene': 'ACYP2', 'score': 15.78}, {'connected_gene': 'PIR55664', 'score': 0.39}, {'connected_gene': 'ERLEC1', 'score': 0.29}, {'connected_gene': 'ASB3', 'score': 0.29}, {'connected_gene': 'GPR75-ASB3', 'score': 0.28}]
chr2 GH02I053967 53967695 53972366 2.53 [{'connected_gene': 'ACYP2', 'score': 570.2}, {'connected_gene': 'PSME4', 'score': 555.39}, {'connected_gene': 'HMGB1P31', 'score': 7.73}, {'connected_gene': 'ASB3', 'score': 1.54}, {'connected_gene': 'GPR75-ASB3', 'score': 0.14}]
chr2 GH02I053993 53993233 53995988 1.07 [{'connected_gene': 'ACYP2', 'score': 28.23}, {'connected_gene': 'HMGB1P31', 'score': 5.38}, {'connected_gene': 'ASB3', 'score': 4.05}, {'connected_gene': 'PSME4', 'score': 2.3}, {'connected_gene': 'GC02P053991', 'score': 0.77}, {'connected_gene': 'GC02P054007', 'score': 0.39}]
chr2 GH02I053827 53827904 53828053 0.51 [{'connected_gene': 'ACYP2', 'score': 4.89}, {'connected_gene': 'PIR55664', 'score': 0.77}, {'connected_gene': 'GPR75-ASB3', 'score': 0.29}, {'connected_gene': 'ASB3', 'score': 0.26}]
chr2 GH02I053826 53826226 53827418 1.59 [{'connected_gene': 'ACYP2', 'score': 16.46}, {'connected_gene': 'PIR55664', 'score': 0.77}, {'connected_gene': 'GPR75-ASB3', 'score': 0.29}, {'connected_gene': 'ERLEC1', 'score': 0.28}, {'connected_gene': 'ASB3', 'score': 0.28}]
chr2 GH02I053785 53785485 53788485 2.07 [{'connected_gene': 'ASB3', 'score': 554.8}, {'connected_gene': 'ERLEC1', 'score': 550.77}, {'connected_gene': 'ACYP2', 'score': 17.08}, {'connected_gene': 'GPR75', 'score': 4.45}, {'connected_gene': 'GPR75-ASB3', 'score': 0.19}]
chr2 GH02I053766 53766744 53769247 1.99 [{'connected_gene': 'CHAC2', 'score': 550.77}, {'connected_gene': 'ACYP2', 'score': 8.79}, {'connected_gene': 'ASB3', 'score': 4.31}, {'connected_gene': 'ERLEC1', 'score': 0.37}, {'connected_gene': 'GC02P053747', 'score': 0.34}, {'connected_gene': 'GPR75-ASB3', 'score': 0.16}]
chr2 GH02I053769 53769444 53769487 0.66 [{'connected_gene': 'CHAC2', 'score': 550.77}, {'connected_gene': 'ACYP2', 'score': 16.94}, {'connected_gene': 'ERLEC1', 'score': 0.37}, {'connected_gene': 'ASB3', 'score': 0.37}, {'connected_gene': 'GC02P053747', 'score': 0.34}, {'connected_gene': 'GPR75-ASB3', 'score': 0.16}]
chr2 GH02I053811 53811722 53814192 0.63 [{'connected_gene': 'ERLEC1', 'score': 11.87}, {'connected_gene': 'ASB3', 'score': 11.87}, {'connected_gene': 'ACYP2', 'score': 11.74}, {'connected_gene': 'PIR55664', 'score': 0.37}, {'connected_gene': 'GPR75-ASB3', 'score': 0.25}]
chr2 GH02I053791 53791902 53792237 0.31 [{'connected_gene': 'GPR75', 'score': 8.3}, {'connected_gene': 'ACYP2', 'score': 7.01}, {'connected_gene': 'ASB3', 'score': 3.06}, {'connected_gene': 'ERLEC1', 'score': 0.44}, {'connected_gene': 'PIR55664', 'score': 0.28}, {'connected_gene': 'GPR75-ASB3', 'score': 0.2}]
chr2 GH02I053738 53738917 53739310 0.41 [{'connected_gene': 'GPR75', 'score': 5.25}, {'connected_gene': 'PSME4', 'score': 3.31}, {'connected_gene': 'GC02P053747', 'score': 0.44}, {'connected_gene': 'ASB3', 'score': 0.25}, {'connected_gene': 'GC02M053662', 'score': 0.19}, {'connected_gene': 'GPR75-ASB3', 'score': 0.13}]
chr2 GH02I053559 53559664 53559813 0.69 [{'connected_gene': 'GC02M053561', 'score': 0.77}, {'connected_gene': 'ENSG00000223897', 'score': 0.19}, {'connected_gene': 'ASB3', 'score': 0.07}]
chr2 GH02I053646 53646533 53647132 0.2 [{'connected_gene': 'GC02M053662', 'score': 0.37}, {'connected_gene': 'LOC105374601', 'score': 0.26}, {'connected_gene': 'ASB3', 'score': 0.11}]
chr2 GH02I053593 53593881 53594910 0.76 [{'connected_gene': 'ENSG00000251942', 'score': 9.81}, {'connected_gene': 'LOC105374600', 'score': 0.44}, {'connected_gene': 'GC02M053575', 'score': 0.39}, {'connected_gene': 'ASB3', 'score': 0.08}]