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
ENST00000314891 [[34651105, 34651503], [34651789, 34651946], [34652311, 34652410], [34653600, 34653733], [34654396, 34654522], [34654773, 34654856], [34654982, 34655037], [34655622, 34655657], [34655861, 34655920], [34656213, 34656274], [34656394, 34656507], [34657208, 34657429], [34657759, 34657902], [34659187, 34659479]] [[34651327, 34651503], [34651789, 34651946], [34652311, 34652410], [34653600, 34653733], [34654396, 34654522], [34654773, 34654856], [34654982, 34655037], [34655622, 34655657], [34655861, 34655920], [34656213, 34656274], [34656394, 34656507], [34657208, 34657429], [34657759, 34657902], [34659187, 34659301]]
ENST00000563748 [[34651109, 34651503], [34651789, 34652410], [34653600, 34653733], [34654396, 34654522], [34654773, 34654856]] None
ENST00000567507 [[34651296, 34651503], [34651789, 34651946], [34652311, 34652410], [34654396, 34654522], [34654773, 34654856]] [[34652364, 34652410], [34654396, 34654522], [34654773, 34654856]]
ENST00000563240 [[34653112, 34653733], [34654396, 34654522], [34654773, 34654856], [34654982, 34655091]] None
ENST00000562404 [[34654779, 34655037], [34655622, 34655941]] None
ENST00000566581 [[34656146, 34656507], [34657208, 34657429], [34657759, 34657902], [34659187, 34659377]] None
ENST00000569804 [[34657208, 34657429], [34657759, 34658195]] None
ENST00000562431 [[34657299, 34657429], [34657759, 34657902], [34659114, 34659182]] None
NM_153613 [[34651088, 34651503], [34651789, 34651946], [34652311, 34652410], [34653600, 34653733], [34654396, 34654522], [34654773, 34654856], [34654982, 34655037], [34655622, 34655657], [34655861, 34655920], [34656213, 34656274], [34656394, 34656507], [34657208, 34657429], [34657759, 34657902], [34659187, 34659395]] [[34651327, 34651503], [34651789, 34651946], [34652311, 34652410], [34653600, 34653733], [34654396, 34654522], [34654773, 34654856], [34654982, 34655037], [34655622, 34655657], [34655861, 34655920], [34656213, 34656274], [34656394, 34656507], [34657208, 34657429], [34657759, 34657902], [34659187, 34659301]]
Promoter
Chrom Start End Description
chr15 34657884 34657905 CAGE_peak_3_at_LPCAT4_5end
chr15 34659349 34659405 CAGE_peak_1_at_LPCAT4_5end
chr15 34659906 34659921 CAGE_peak_4_at_LPCAT4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I034246 34246018 34247411 0.38 [{'connected_gene': 'NOP10', 'score': 51.16}, {'connected_gene': 'SLC12A6', 'score': 11.89}, {'connected_gene': 'NUTM1', 'score': 11.88}, {'connected_gene': 'LPCAT4', 'score': 11.67}, {'connected_gene': 'KATNBL1', 'score': 11.64}, {'connected_gene': 'GOLGA8B', 'score': 4.39}, {'connected_gene': 'ENSG00000259468', 'score': 0.44}, {'connected_gene': 'EMC4', 'score': 0.34}]
chr15 GH15I034346 34346878 34347277 0.23 [{'connected_gene': 'NUTM1', 'score': 0.77}, {'connected_gene': 'LPCAT4', 'score': 0.34}]
chr15 GH15I034364 34364857 34368885 2.02 [{'connected_gene': 'LPCAT4', 'score': 550.77}, {'connected_gene': 'AQR', 'score': 18.15}, {'connected_gene': 'HNRNPLP2', 'score': 12.55}, {'connected_gene': 'ENSG00000259287', 'score': 11.58}, {'connected_gene': 'GOLGA8B', 'score': 6.7}, {'connected_gene': 'GOLGA8A', 'score': 6.24}, {'connected_gene': 'NUTM1', 'score': 0.34}]
chr15 GH15I034359 34359500 34359689 0.2 [{'connected_gene': 'LPCAT4', 'score': 0.44}, {'connected_gene': 'NUTM1', 'score': 0.37}]
chr15 GH15I034361 34361982 34363807 0.31 [{'connected_gene': 'LPCAT4', 'score': 10.98}, {'connected_gene': 'NUTM1', 'score': 0.37}]
chr15 GH15I034360 34360420 34360609 0.67 [{'connected_gene': 'LPCAT4', 'score': 0.44}, {'connected_gene': 'NUTM1', 'score': 0.37}]
chr15 GH15I034369 34369154 34369503 0.2 [{'connected_gene': 'LPCAT4', 'score': 0.77}, {'connected_gene': 'ACTG1P15', 'score': 0.44}]