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
ENST00000410096 [[158175136, 158178303], [158181181, 158181274], [158181913, 158182446]] [[158177782, 158178303], [158181181, 158181274], [158181913, 158182154]]
ENST00000397283 [[158175150, 158178303], [158181181, 158181274], [158181913, 158182186], [158183984, 158184225]] [[158177782, 158178303], [158181181, 158181274], [158181913, 158182186], [158183984, 158183991]]
ENST00000535935 [[158177508, 158178303], [158181181, 158181274], [158181642, 158181750]] [[158177782, 158178303], [158181181, 158181197]]
ENST00000409395 [[158177508, 158178303], [158181181, 158181274], [158181642, 158181748], [158181913, 158182385]] [[158181734, 158181748], [158181913, 158182154]]
ENST00000420719 [[158177513, 158178303], [158181181, 158181214], [158181913, 158182336]] [[158177782, 158178303], [158181181, 158181214], [158181913, 158182154]]
ENST00000420317 [[158178156, 158178303], [158181181, 158181274], [158181913, 158182174], [158183720, 158183760]] [[158178156, 158178303], [158181181, 158181274], [158181913, 158182154]]
ENST00000411762 [[158178180, 158178303], [158181181, 158181274], [158181913, 158182186], [158183720, 158183821]] [[158178180, 158178303], [158181181, 158181274], [158181913, 158182154]]
ENST00000409216 [[158178196, 158178303], [158180658, 158180781], [158181181, 158181274], [158181913, 158182336]] [[158180674, 158180781], [158181181, 158181274], [158181913, 158182154]]
ENST00000409925 [[158178250, 158178303], [158180629, 158180781], [158181181, 158181274], [158181913, 158182171]] [[158180674, 158180781], [158181181, 158181274], [158181913, 158182154]]
ENST00000419116 [[158178293, 158178303], [158181181, 158181265], [158181913, 158182413]] [[158178293, 158178303], [158181181, 158181265], [158181913, 158182154]]
NM_020711 [[158175124, 158178303], [158181181, 158181274], [158181913, 158182460]] [[158177782, 158178303], [158181181, 158181274], [158181913, 158182154]]
NM_001304346 [[158175124, 158178303], [158181181, 158181214], [158181913, 158182460]] [[158177782, 158178303], [158181181, 158181214], [158181913, 158182154]]
NM_001304345 [[158175124, 158178303], [158181181, 158181274], [158181913, 158182186], [158183720, 158183821]] [[158177782, 158178303], [158181181, 158181274], [158181913, 158182154]]
NM_001304344 [[158175124, 158178303], [158181181, 158181274], [158181913, 158182174], [158183720, 158183821]] [[158177782, 158178303], [158181181, 158181274], [158181913, 158182154]]
NM_001009959 [[158175124, 158178303], [158181181, 158181274], [158181913, 158182186], [158183984, 158184225]] [[158177782, 158178303], [158181181, 158181274], [158181913, 158182186], [158183984, 158183991]]
Promoter
Chrom Start End Description
chr2 158182105 158182110 CAGE_peak_6_at_ERMN_5end
chr2 158182255 158182298 CAGE_peak_2_at_ERMN_5end
chr2 158182322 158182358 CAGE_peak_1_at_ERMN_5end
chr2 158182376 158182387 CAGE_peak_3_at_ERMN_5end
chr2 158182410 158182415 CAGE_peak_4_at_ERMN_5end
chr2 158182519 158182525 CAGE_peak_7_at_ERMN_5end
chr2 158184211 158184231 CAGE_peak_5_at_ERMN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I157410 157410825 157422524 1.58 [{'connected_gene': 'CYTIP', 'score': 33.86}, {'connected_gene': 'ACVR1', 'score': 13.57}, {'connected_gene': 'FAM133DP', 'score': 12.33}, {'connected_gene': 'ERMN', 'score': 11.09}, {'connected_gene': 'GPD2', 'score': 4.14}, {'connected_gene': 'LOC105373711', 'score': 0.39}, {'connected_gene': 'GC02M157436', 'score': 0.29}]
chr2 GH02I157463 157463385 157464928 0.94 [{'connected_gene': 'CYTIP', 'score': 14.31}, {'connected_gene': 'ERMN', 'score': 10.69}, {'connected_gene': 'ACVR1', 'score': 1.15}, {'connected_gene': 'GC02M157436', 'score': 0.37}]
chr2 GH02I157485 157485617 157489507 0.89 [{'connected_gene': 'CYTIP', 'score': 550.77}, {'connected_gene': 'ERMN', 'score': 10.56}, {'connected_gene': 'LOC105373712', 'score': 0.77}, {'connected_gene': 'GC02M157436', 'score': 0.28}]
chr2 GH02I157409 157409010 157409798 0.51 [{'connected_gene': 'CYTIP', 'score': 11.62}, {'connected_gene': 'ERMN', 'score': 10.87}, {'connected_gene': 'LOC105373711', 'score': 0.77}, {'connected_gene': 'GC02M157436', 'score': 0.28}]
chr2 GH02I157345 157345416 157346085 0.31 [{'connected_gene': 'CYTIP', 'score': 10.17}, {'connected_gene': 'GC02M157348', 'score': 0.44}, {'connected_gene': 'ERMN', 'score': 0.37}]
chr2 GH02I157472 157472464 157475139 0.2 [{'connected_gene': 'ERMN', 'score': 10.96}, {'connected_gene': 'CYTIP', 'score': 0.37}, {'connected_gene': 'LOC105373712', 'score': 0.37}, {'connected_gene': 'GC02M157436', 'score': 0.31}]
chr2 GH02I157481 157481966 157483054 0.31 [{'connected_gene': 'ERMN', 'score': 10.46}, {'connected_gene': 'CYTIP', 'score': 0.44}, {'connected_gene': 'LOC105373712', 'score': 0.44}, {'connected_gene': 'GC02M157436', 'score': 0.29}]
chr2 GH02I157476 157476058 157478859 0.63 [{'connected_gene': 'ERMN', 'score': 10.3}, {'connected_gene': 'CYTIP', 'score': 0.39}, {'connected_gene': 'LOC105373712', 'score': 0.39}, {'connected_gene': 'GC02M157436', 'score': 0.31}]
chr2 GH02I157479 157479327 157481194 1.37 [{'connected_gene': 'ERMN', 'score': 10.46}, {'connected_gene': 'ACVR1C', 'score': 1.98}, {'connected_gene': 'CYTIP', 'score': 0.44}, {'connected_gene': 'LOC105373712', 'score': 0.39}, {'connected_gene': 'GC02M157436', 'score': 0.29}]
chr2 GH02I157929 157929421 157931083 1.01 [{'connected_gene': 'ERMN', 'score': 14.52}, {'connected_gene': 'ACVR1C', 'score': 5.38}, {'connected_gene': 'ENSG00000271320', 'score': 0.39}, {'connected_gene': 'GC02P157914', 'score': 0.37}, {'connected_gene': 'GC02M157962', 'score': 0.29}, {'connected_gene': 'UPP2', 'score': 0.23}]
chr2 GH02I157263 157263201 157263600 0.89 [{'connected_gene': 'ERMN', 'score': 10.32}, {'connected_gene': 'GALNT5', 'score': 0.44}, {'connected_gene': 'RN7SKP281', 'score': 0.28}]
chr2 GH02I157304 157304541 157305838 0.51 [{'connected_gene': 'ERMN', 'score': 11.67}, {'connected_gene': 'RN7SKP281', 'score': 0.44}, {'connected_gene': 'GALNT5', 'score': 0.25}]
chr2 GH02I157312 157312858 157316828 0.59 [{'connected_gene': 'ERMN', 'score': 0.39}, {'connected_gene': 'RN7SKP281', 'score': 0.37}, {'connected_gene': 'GALNT5', 'score': 0.22}]
chr2 GH02I157324 157324123 157324863 0.98 [{'connected_gene': 'ERMN', 'score': 0.77}, {'connected_gene': 'RN7SKP281', 'score': 0.31}]
chr2 GH02I157325 157325807 157325866 0.7 [{'connected_gene': 'ERMN', 'score': 550.77}, {'connected_gene': 'RN7SKP281', 'score': 0.31}]
chr2 GH02I157318 157318487 157324062 0.59 [{'connected_gene': 'ERMN', 'score': 0.44}, {'connected_gene': 'RN7SKP281', 'score': 0.34}]
chr2 GH02I157326 157325869 157326098 0.51 [{'connected_gene': 'ERMN', 'score': 550.77}, {'connected_gene': 'RN7SKP281', 'score': 0.31}]
chr2 GH02I157327 157327430 157328568 1.65 [{'connected_gene': 'ERMN', 'score': 550.77}, {'connected_gene': 'GC02M157348', 'score': 0.31}]
chr2 GH02I157331 157331554 157332883 0.4 [{'connected_gene': 'ERMN', 'score': 0.77}, {'connected_gene': 'GC02M157348', 'score': 0.34}]
chr2 GH02I157405 157405487 157407401 0.31 [{'connected_gene': 'LOC105373711', 'score': 550.77}, {'connected_gene': 'CYTIP', 'score': 11.62}, {'connected_gene': 'ERMN', 'score': 11.47}, {'connected_gene': 'GC02M157436', 'score': 0.26}]
chr2 GH02I157402 157402874 157404977 1.15 [{'connected_gene': 'LOC105373711', 'score': 550.77}, {'connected_gene': 'ERMN', 'score': 11.47}, {'connected_gene': 'CYTIP', 'score': 11.2}, {'connected_gene': 'FAM133DP', 'score': 0.34}]