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
ENST00000279550 [[10851682, 10852253], [10853852, 10853952], [10854558, 10854733], [10856649, 10856747], [10865809, 10865932], [10868292, 10868382], [10870686, 10870720], [10871678, 10871742], [10875448, 10875906]] [[10853886, 10853952], [10854558, 10854733], [10856649, 10856747], [10865809, 10865932], [10868292, 10868382], [10870686, 10870720], [10871678, 10871742], [10875448, 10875710]]
ENST00000228251 [[10851811, 10852253], [10853852, 10853952], [10854558, 10854733], [10856649, 10856747], [10862506, 10862713], [10865809, 10865932], [10868292, 10868382], [10870686, 10870720], [10871678, 10871742], [10875448, 10875911]] [[10853886, 10853952], [10854558, 10854733], [10856649, 10856747], [10862506, 10862713], [10865809, 10865932], [10868292, 10868382], [10870686, 10870720], [10871678, 10871742], [10875448, 10875710]]
ENST00000540447 [[10851825, 10852253], [10853852, 10853952], [10854558, 10856747], [10862506, 10865932], [10868292, 10868382], [10870686, 10870720], [10871678, 10871742], [10875448, 10875510]] None
ENST00000540975 [[10851915, 10852253], [10853852, 10853952], [10854558, 10854733], [10855010, 10855074]] None
ENST00000546164 [[10852025, 10852253], [10853852, 10853952], [10854558, 10854733], [10856658, 10856747], [10862506, 10862719]] None
ENST00000536823 [[10852076, 10852253], [10853852, 10853952], [10854558, 10854733], [10856649, 10857037]] None
ENST00000366286 [[10852208, 10852253], [10853852, 10853952], [10854558, 10854733], [10854857, 10855241]] None
ENST00000542002 [[10853851, 10853952], [10854558, 10854733], [10856649, 10856747], [10865809, 10865932], [10868292, 10868747]] None
ENST00000366290 [[10853852, 10853952], [10854558, 10854970]] None
ENST00000542641 [[10853872, 10853952], [10854558, 10854733], [10856649, 10856747], [10865809, 10865932], [10868292, 10868382], [10870611, 10870714]] None
ENST00000541351 [[10853873, 10853952], [10854558, 10854733], [10856121, 10856218], [10856649, 10856747], [10862506, 10862713], [10863252, 10863313]] [[10854685, 10854733], [10856121, 10856218], [10856649, 10856747], [10862506, 10862713], [10863252, 10863313]]
ENST00000544504 [[10854608, 10854733], [10856649, 10856747], [10862506, 10862713], [10863132, 10863285]] None
ENST00000539204 [[10856621, 10856747], [10862506, 10862713], [10865809, 10865932], [10868292, 10868382], [10870686, 10870720], [10870960, 10871029]] None
ENST00000544622 [[10862949, 10863387], [10865809, 10865932], [10868292, 10868382], [10870686, 10870720]] None
ENST00000546298 [[10865827, 10865932], [10868292, 10868382], [10870686, 10870720], [10871678, 10871742], [10873389, 10873531], [10874516, 10874645]] None
ENST00000544501 [[10868293, 10868382], [10870311, 10870376], [10870686, 10870713]] None
ENST00000536107 [[10870406, 10870720], [10871678, 10871742], [10875448, 10875508]] None
ENST00000540747 [[10870715, 10870720], [10871678, 10871742], [10873389, 10873531], [10874658, 10874995]] None
NM_003651 [[10851675, 10852253], [10853852, 10853952], [10854558, 10854733], [10856649, 10856747], [10862506, 10862713], [10865809, 10865932], [10868292, 10868382], [10870686, 10870720], [10871678, 10871742], [10875448, 10875953]] [[10853886, 10853952], [10854558, 10854733], [10856649, 10856747], [10862506, 10862713], [10865809, 10865932], [10868292, 10868382], [10870686, 10870720], [10871678, 10871742], [10875448, 10875710]]
NM_001145426 [[10851675, 10852253], [10853852, 10853952], [10854558, 10854733], [10856649, 10856747], [10865809, 10865932], [10868292, 10868382], [10870686, 10870720], [10871678, 10871742], [10875448, 10875953]] [[10853886, 10853952], [10854558, 10854733], [10856649, 10856747], [10865809, 10865932], [10868292, 10868382], [10870686, 10870720], [10871678, 10871742], [10875448, 10875710]]
Promoter
Chrom Start End Description
chr12 10854595 10854628 CAGE_peak_7_at_CSDA_5end
chr12 10854646 10854658 CAGE_peak_24_at_CSDA_5end
chr12 10856697 10856712 CAGE_peak_12_at_CSDA_5end
chr12 10856713 10856723 CAGE_peak_23_at_CSDA_5end
chr12 10856739 10856746 CAGE_peak_36_at_CSDA_5end
chr12 10856751 10856757 CAGE_peak_39_at_CSDA_5end
chr12 10865870 10865888 CAGE_peak_6_at_CSDA_5end
chr12 10865908 10865915 CAGE_peak_37_at_CSDA_5end
chr12 10865922 10865934 CAGE_peak_15_at_CSDA_5end
chr12 10870927 10870966 CAGE_peak_5_at_CSDA_5end
chr12 10870989 10871013 CAGE_peak_11_at_CSDA_5end
chr12 10871020 10871032 CAGE_peak_26_at_CSDA_5end
chr12 10871049 10871064 CAGE_peak_19_at_CSDA_5end
chr12 10871068 10871079 CAGE_peak_25_at_CSDA_5end
chr12 10875351 10875422 CAGE_peak_4_at_CSDA_5end
chr12 10875481 10875504 CAGE_peak_14_at_CSDA_5end
chr12 10875548 10875563 CAGE_peak_13_at_CSDA_5end
chr12 10875612 10875631 CAGE_peak_9_at_CSDA_5end
chr12 10875636 10875638 CAGE_peak_38_at_CSDA_5end
chr12 10875658 10875708 CAGE_peak_2_at_CSDA_5end
chr12 10875713 10875719 CAGE_peak_21_at_CSDA_5end
chr12 10875733 10875752 CAGE_peak_8_at_CSDA_5end
chr12 10875768 10875808 CAGE_peak_3_at_CSDA_5end
chr12 10875823 10875827 CAGE_peak_22_at_CSDA_5end
chr12 10875831 10876025 CAGE_peak_1_at_CSDA_5end
chr12 10876282 10876288 CAGE_peak_29_at_CSDA_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I010707 10707053 10708146 0.2 [{'connected_gene': 'YBX3', 'score': 11.93}, {'connected_gene': 'STYK1', 'score': 11.48}, {'connected_gene': 'GABARAPL1', 'score': 10.45}, {'connected_gene': 'ENSG00000255958', 'score': 10.45}, {'connected_gene': 'MAGOHB', 'score': 10.42}, {'connected_gene': 'KLRC1', 'score': 9.13}, {'connected_gene': 'LOC105369660', 'score': 0.37}, {'connected_gene': 'GC12P010619', 'score': 0.17}]
chr12 GH12I010715 10715682 10724506 2.28 [{'connected_gene': 'YBX3', 'score': 561.22}, {'connected_gene': 'KLRA1P', 'score': 56.72}, {'connected_gene': 'TAS2R20', 'score': 33.59}, {'connected_gene': 'TAS2R31', 'score': 26.41}, {'connected_gene': 'TAS2R43', 'score': 25.46}, {'connected_gene': 'MAGOHB', 'score': 22.54}, {'connected_gene': 'TAS2R14', 'score': 13.81}, {'connected_gene': 'TAS2R50', 'score': 13.38}, {'connected_gene': 'TAS2R15P', 'score': 12.67}, {'connected_gene': 'TAS2R10', 'score': 12.6}, {'connected_gene': 'TAS2R64P', 'score': 12.58}, {'connected_gene': 'ENSG00000256682', 'score': 12.01}, {'connected_gene': 'ENSG00000256981', 'score': 11.94}, {'connected_gene': 'TAS2R19', 'score': 11.21}, {'connected_gene': 'STYK1', 'score': 10.86}, {'connected_gene': 'PRH2', 'score': 10.14}, {'connected_gene': 'ENSG00000255958', 'score': 10.05}, {'connected_gene': 'GABARAPL1', 'score': 10.05}, {'connected_gene': 'LOC105369660', 'score': 0.77}, {'connected_gene': 'GC12P010619', 'score': 0.15}]
chr12 GH12I010708 10708442 10710163 0.4 [{'connected_gene': 'STYK1', 'score': 11.48}, {'connected_gene': 'GABARAPL1', 'score': 10.45}, {'connected_gene': 'ENSG00000255958', 'score': 10.45}, {'connected_gene': 'YBX3', 'score': 10.45}, {'connected_gene': 'MAGOHB', 'score': 10.41}, {'connected_gene': 'KLRC1', 'score': 9.13}, {'connected_gene': 'LOC105369660', 'score': 0.39}, {'connected_gene': 'GC12P010619', 'score': 0.17}]
chr12 GH12I010705 10705027 10706973 0.31 [{'connected_gene': 'STYK1', 'score': 11.48}, {'connected_gene': 'ENSG00000255958', 'score': 10.45}, {'connected_gene': 'GABARAPL1', 'score': 10.45}, {'connected_gene': 'YBX3', 'score': 10.42}, {'connected_gene': 'MAGOHB', 'score': 10.42}, {'connected_gene': 'KLRC1', 'score': 9.13}, {'connected_gene': 'LOC105369660', 'score': 0.37}, {'connected_gene': 'GC12P010619', 'score': 0.17}]
chr12 GH12I010701 10701104 10701839 0.31 [{'connected_gene': 'STYK1', 'score': 11.5}, {'connected_gene': 'ENSG00000255958', 'score': 10.45}, {'connected_gene': 'GABARAPL1', 'score': 10.45}, {'connected_gene': 'MAGOHB', 'score': 10.42}, {'connected_gene': 'YBX3', 'score': 9.72}, {'connected_gene': 'KLRC1', 'score': 9.13}, {'connected_gene': 'LOC105369660', 'score': 0.34}, {'connected_gene': 'GC12P010619', 'score': 0.18}]
chr12 GH12I010289 10289157 10289354 0.61 [{'connected_gene': 'KLRD1', 'score': 18.11}, {'connected_gene': 'KLRF1', 'score': 15.08}, {'connected_gene': 'KLRK1', 'score': 11.38}, {'connected_gene': 'ENSG00000255958', 'score': 10.63}, {'connected_gene': 'GABARAPL1', 'score': 10.62}, {'connected_gene': 'KLRC4-KLRK1', 'score': 9.55}, {'connected_gene': 'KLRC4', 'score': 9.14}, {'connected_gene': 'KLRC3', 'score': 7.37}, {'connected_gene': 'KLRC1', 'score': 4.32}, {'connected_gene': 'KLRC2', 'score': 2.67}, {'connected_gene': 'YBX3', 'score': 1.64}, {'connected_gene': 'CLEC2B', 'score': 1.5}, {'connected_gene': 'CLEC1B', 'score': 1.28}, {'connected_gene': 'LOC105369656', 'score': 0.77}]
chr12 GH12I010740 10740282 10740431 0.59 [{'connected_gene': 'KLRC1', 'score': 6.13}, {'connected_gene': 'LINC02366', 'score': 0.44}, {'connected_gene': 'YBX3', 'score': 0.37}]
chr12 GH12I011715 11715225 11716015 0.31 [{'connected_gene': 'ETV6', 'score': 11.23}, {'connected_gene': 'DDX55P1', 'score': 4.44}, {'connected_gene': 'YBX3', 'score': 4.17}, {'connected_gene': 'GC12M012107', 'score': 0.22}, {'connected_gene': 'PIR53480', 'score': 0.21}]
chr12 GH12I010749 10749108 10750831 1.49 [{'connected_gene': 'LINC02366', 'score': 550.77}, {'connected_gene': 'KLRA1P', 'score': 15.33}, {'connected_gene': 'TAS2R43', 'score': 14.05}, {'connected_gene': 'ENSG00000256981', 'score': 11.24}, {'connected_gene': 'TAS2R50', 'score': 10.65}, {'connected_gene': 'LINC01252', 'score': 5.76}, {'connected_gene': 'TAS2R14', 'score': 4.35}, {'connected_gene': 'YBX3', 'score': 0.31}]
chr12 GH12I010300 10300252 10302179 0.2 [{'connected_gene': 'ENSG00000255958', 'score': 11.07}, {'connected_gene': 'GABARAPL1', 'score': 11.07}, {'connected_gene': 'KLRC1', 'score': 10.63}, {'connected_gene': 'KLRD1', 'score': 6.72}, {'connected_gene': 'YBX3', 'score': 4.17}, {'connected_gene': 'LOC105369656', 'score': 0.44}, {'connected_gene': 'ENSG00000256288', 'score': 0.28}]