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
ENST00000457361 [[213864428, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [214012431, 214012536], [214013319, 214013368], [214014904, 214015058]] [[213872083, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [214012431, 214012536], [214013319, 214013353]]
ENST00000342002 [[213870086, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [214012431, 214012536], [214013319, 214013368], [214014904, 214015058]] [[213872083, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [214012431, 214012536], [214013319, 214013368], [214014904, 214014907]]
ENST00000434687 [[213870086, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [214012431, 214012536], [214013319, 214013368], [214014867, 214014971], [214016136, 214016327]] [[213872083, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [214012431, 214012536], [214013319, 214013353]]
ENST00000374319 [[213871895, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921634, 213921823], [214012431, 214012536], [214013319, 214013368], [214014867, 214014971], [214016136, 214016327]] [[213872083, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921634, 213921823], [214012431, 214012536], [214013319, 214013353]]
ENST00000453575 [[213872076, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921634, 213921823], [213962600, 213962684], [214012431, 214012536], [214013319, 214013353]] [[213962664, 213962684], [214012431, 214012536], [214013319, 214013353]]
ENST00000439848 [[213872080, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921289, 213921468], [213921556, 213921823], [214012431, 214012536], [214013319, 214013353]] [[213921427, 213921468], [213921556, 213921823], [214012431, 214012536], [214013319, 214013353]]
ENST00000374326 [[213872080, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213962600, 213962684], [214012431, 214012536], [214013319, 214013353]] [[213962664, 213962684], [214012431, 214012536], [214013319, 214013353]]
ENST00000412444 [[213872080, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [213945893, 213945962], [213962600, 213962684], [214012431, 214012536], [214013319, 214013353]] [[213962664, 213962684], [214012431, 214012536], [214013319, 214013353]]
ENST00000374327 [[213872083, 213872808], [213878514, 213878658], [213886716, 213886854], [214012431, 214012536], [214013319, 214013353]] [[213872083, 213872808], [213878514, 213878658], [213886716, 213886854], [214012431, 214012536], [214013319, 214013353]]
ENST00000451136 [[213872083, 213872808], [213878514, 213878658], [213914436, 213914604], [213921634, 213921823], [214012431, 214012536], [214013319, 214013353]] [[213872083, 213872808], [213878514, 213878658], [213914436, 213914604], [213921634, 213921823], [214012431, 214012536], [214013319, 214013353]]
ENST00000413091 [[213872083, 213872808], [213878514, 213878658], [213886367, 213886444], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [214012431, 214012536], [214013319, 214013353]] [[213886436, 213886444], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [214012431, 214012536], [214013319, 214013353]]
ENST00000421754 [[213872083, 213872808], [213886716, 213886854], [213914436, 213914604], [213921634, 213921823], [214012431, 214012536], [214013319, 214013353]] [[213872083, 213872808], [213886716, 213886854], [213914436, 213914604], [213921634, 213921823], [214012431, 214012536], [214013319, 214013353]]
ENST00000431520 [[213872083, 213872808], [213878514, 213878658], [213881646, 213881768], [213886367, 213886444], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [214012431, 214012536], [214013319, 214013353]] [[213886436, 213886444], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [214012431, 214012536], [214013319, 214013353]]
ENST00000484040 [[213870762, 213872808], [213878514, 213880002]] None
ENST00000433134 [[213914573, 213914604], [213921634, 213921823], [214012431, 214012536], [214013319, 214013368], [214014904, 214015132]] [[213914573, 213914604], [213921634, 213921823], [214012431, 214012536], [214013319, 214013368], [214014904, 214014907]]
ENST00000452786 [[213921712, 213921823], [214012431, 214012536], [214013319, 214013368], [214016849, 214017151]] [[213921712, 213921823], [214012431, 214012536], [214013319, 214013353]]
ENST00000442445 [[214012095, 214012536], [214013319, 214013368], [214014904, 214014965]] [[214012309, 214012536], [214013319, 214013368], [214014904, 214014907]]
NM_016260 [[213864407, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [214012431, 214012536], [214013319, 214013368], [214014904, 214015058]] [[213872083, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921556, 213921823], [214012431, 214012536], [214013319, 214013353]]
NM_001079526 [[213864407, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921634, 213921823], [214012431, 214012536], [214013319, 214013368], [214014867, 214014971], [214016136, 214016333]] [[213872083, 213872808], [213878514, 213878658], [213886716, 213886854], [213914436, 213914604], [213921634, 213921823], [214012431, 214012536], [214013319, 214013353]]
Promoter
Chrom Start End Description
chr2 214013461 214013517 CAGE_peak_6_at_IKZF2_5end
chr2 214014942 214014952 CAGE_peak_15_at_IKZF2_5end
chr2 214014959 214015006 CAGE_peak_4_at_IKZF2_5end
chr2 214015111 214015179 CAGE_peak_1_at_IKZF2_5end
chr2 214015343 214015366 CAGE_peak_3_at_IKZF2_5end
chr2 214015379 214015410 CAGE_peak_9_at_IKZF2_5end
chr2 214016254 214016282 CAGE_peak_7_at_IKZF2_5end
chr2 214016314 214016343 CAGE_peak_2_at_IKZF2_5end
chr2 214016443 214016461 CAGE_peak_17_at_IKZF2_5end
chr2 214016467 214016482 CAGE_peak_14_at_IKZF2_5end
chr2 214016496 214016544 CAGE_peak_5_at_IKZF2_5end
chr2 214016899 214016926 CAGE_peak_10_at_IKZF2_5end
chr2 214017053 214017065 CAGE_peak_16_at_IKZF2_5end
chr2 214017168 214017189 CAGE_peak_8_at_IKZF2_5end
chr2 214017199 214017208 CAGE_peak_26_at_IKZF2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I213241 213241575 213245048 1.15 [{'connected_gene': 'IKZF2', 'score': 1.75}, {'connected_gene': 'ENSG00000272519', 'score': 0.29}, {'connected_gene': 'LOC105373864', 'score': 0.18}]
chr2 GH02I213155 213155598 213156218 0.2 [{'connected_gene': 'IKZF2', 'score': 550.77}, {'connected_gene': 'LINC01953', 'score': 0.39}]
chr2 GH02I213156 213156647 213158164 1.15 [{'connected_gene': 'IKZF2', 'score': 18.56}, {'connected_gene': 'LINC01953', 'score': 0.39}]
chr2 GH02I212977 212977339 212977352 0.47 [{'connected_gene': 'IKZF2', 'score': 3.9}, {'connected_gene': 'GC02P212981', 'score': 0.77}, {'connected_gene': 'LOC102725082', 'score': 0.37}, {'connected_gene': 'ENSG00000273118', 'score': 0.26}, {'connected_gene': 'MIR4776-2', 'score': 0.23}]
chr2 GH02I212954 212954749 212961958 1.23 [{'connected_gene': 'IKZF2', 'score': 2.48}, {'connected_gene': 'GC02P212981', 'score': 0.34}, {'connected_gene': 'MIR4776-2', 'score': 0.29}, {'connected_gene': 'LOC102725082', 'score': 0.28}, {'connected_gene': 'ENSG00000273118', 'score': 0.21}]
chr2 GH02I213100 213100037 213102896 0.4 [{'connected_gene': 'IKZF2', 'score': 9.13}, {'connected_gene': 'ENSG00000270659', 'score': 4.31}, {'connected_gene': 'GC02M213104', 'score': 0.77}, {'connected_gene': 'GC02M213019', 'score': 0.2}]
chr2 GH02I213065 213065640 213066797 0.83 [{'connected_gene': 'IKZF2', 'score': 8.31}, {'connected_gene': 'ENSG00000270659', 'score': 7.5}, {'connected_gene': 'GC02M213019', 'score': 0.29}, {'connected_gene': 'GC02M213104', 'score': 0.28}]
chr2 GH02I213128 213128821 213130691 0.2 [{'connected_gene': 'IKZF2', 'score': 5.48}, {'connected_gene': 'GC02P213140', 'score': 0.39}, {'connected_gene': 'GC02P213107', 'score': 0.34}]
chr2 GH02I213131 213131965 213133660 0.2 [{'connected_gene': 'IKZF2', 'score': 8.84}, {'connected_gene': 'GC02P213140', 'score': 0.44}, {'connected_gene': 'GC02P213107', 'score': 0.31}]
chr2 GH02I213115 213115185 213116105 0.2 [{'connected_gene': 'IKZF2', 'score': 8.51}, {'connected_gene': 'ENSG00000270659', 'score': 4.5}, {'connected_gene': 'GC02P213107', 'score': 0.44}, {'connected_gene': 'GC02P213140', 'score': 0.31}]
chr2 GH02I213133 213133876 213135106 0.2 [{'connected_gene': 'IKZF2', 'score': 8.72}, {'connected_gene': 'GC02P213140', 'score': 0.44}, {'connected_gene': 'GC02P213107', 'score': 0.31}]
chr2 GH02I213141 213141055 213154803 2.61 [{'connected_gene': 'IKZF2', 'score': 571.74}, {'connected_gene': 'ENSG00000270659', 'score': 10.12}, {'connected_gene': 'GC02P213151', 'score': 0.77}, {'connected_gene': 'GC02P213140', 'score': 0.44}]
chr2 GH02I213112 213112991 213114202 0.2 [{'connected_gene': 'IKZF2', 'score': 12.13}, {'connected_gene': 'ENSG00000270659', 'score': 4.75}, {'connected_gene': 'GC02P213107', 'score': 0.44}, {'connected_gene': 'GC02P213140', 'score': 0.31}]
chr2 GH02I213164 213164897 213167608 1.04 [{'connected_gene': 'LOC105373864', 'score': 550.77}, {'connected_gene': 'LINC01953', 'score': 550.77}, {'connected_gene': 'IKZF2', 'score': 15.21}]
chr2 GH02I212999 212999693 212999942 0.51 [{'connected_gene': 'LOC102725082', 'score': 0.77}, {'connected_gene': 'ENSG00000273118', 'score': 0.34}, {'connected_gene': 'IKZF2', 'score': 0.1}]
chr2 GH02I213230 213230544 213241292 1.62 [{'connected_gene': 'LOC100130451', 'score': 10.64}, {'connected_gene': 'SPAG16', 'score': 10.64}, {'connected_gene': 'IKZF2', 'score': 7.19}, {'connected_gene': 'ENSG00000272519', 'score': 0.26}, {'connected_gene': 'LOC105373864', 'score': 0.2}]
chr2 GH02I213103 213103492 213105588 0.94 [{'connected_gene': 'GC02M213104', 'score': 550.77}, {'connected_gene': 'IKZF2', 'score': 12.12}, {'connected_gene': 'ENSG00000270659', 'score': 4.2}, {'connected_gene': 'GC02M213019', 'score': 0.2}]
chr2 GH02I212681 212681382 212681701 0.22 [{'connected_gene': 'GC02M212658', 'score': 550.77}, {'connected_gene': 'IKZF2', 'score': 1.34}, {'connected_gene': 'PIR33846', 'score': 0.34}, {'connected_gene': 'ENSG00000273118', 'score': 0.05}]
chr2 GH02I213135 213135297 213136123 0.31 [{'connected_gene': 'GC02P213140', 'score': 0.44}, {'connected_gene': 'IKZF2', 'score': 0.37}, {'connected_gene': 'GC02P213107', 'score': 0.31}]
chr2 GH02I213021 213021457 213023405 1 [{'connected_gene': 'ENSG00000273118', 'score': 550.77}, {'connected_gene': 'ENSG00000270659', 'score': 4.93}, {'connected_gene': 'GC02M213019', 'score': 0.39}, {'connected_gene': 'IKZF2', 'score': 0.12}]
chr2 GH02I213088 213088719 213090477 0.38 [{'connected_gene': 'ENSG00000270659', 'score': 6.36}, {'connected_gene': 'GC02M213104', 'score': 0.37}, {'connected_gene': 'GC02M213019', 'score': 0.23}, {'connected_gene': 'IKZF2', 'score': 0.21}]
chr2 GH02I213123 213123766 213124777 0.2 [{'connected_gene': 'GC02P213107', 'score': 0.37}, {'connected_gene': 'GC02P213140', 'score': 0.37}, {'connected_gene': 'IKZF2', 'score': 0.31}]
chr2 GH02I213086 213086387 213087246 0.51 [{'connected_gene': 'GC02M213104', 'score': 0.37}, {'connected_gene': 'GC02M213019', 'score': 0.23}, {'connected_gene': 'IKZF2', 'score': 0.2}]
chr2 GH02I213069 213069001 213069200 0.4 [{'connected_gene': 'GC02M213019', 'score': 0.29}, {'connected_gene': 'GC02M213104', 'score': 0.28}, {'connected_gene': 'IKZF2', 'score': 0.17}]
chr2 GH02I213036 213036853 213039679 0.94 [{'connected_gene': 'GC02M213019', 'score': 0.77}, {'connected_gene': 'GC02M213104', 'score': 0.2}, {'connected_gene': 'IKZF2', 'score': 0.13}]
chr2 GH02I213125 213125406 213126642 0.51 [{'connected_gene': 'GC02P213140', 'score': 0.39}, {'connected_gene': 'GC02P213107', 'score': 0.37}, {'connected_gene': 'IKZF2', 'score': 0.31}]
chr2 GH02I213117 213117246 213123219 1.09 [{'connected_gene': 'GC02P213107', 'score': 0.39}, {'connected_gene': 'GC02P213140', 'score': 0.34}, {'connected_gene': 'IKZF2', 'score': 0.29}]
chr2 GH02I213106 213106900 213108223 0.2 [{'connected_gene': 'GC02P213107', 'score': 550.77}, {'connected_gene': 'IKZF2', 'score': 12.12}, {'connected_gene': 'GC02M213104', 'score': 0.77}]
chr2 GH02I213000 213000760 213002361 0.46 [{'connected_gene': 'ENSG00000270659', 'score': 4.61}, {'connected_gene': 'LOC102725082', 'score': 0.44}, {'connected_gene': 'ENSG00000273118', 'score': 0.37}, {'connected_gene': 'IKZF2', 'score': 0.1}]
chr2 GH02I213014 213014473 213017009 0.98 [{'connected_gene': 'ENSG00000270659', 'score': 5.27}, {'connected_gene': 'ENSG00000273118', 'score': 0.44}, {'connected_gene': 'LOC102725082', 'score': 0.37}, {'connected_gene': 'IKZF2', 'score': 0.12}]