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
ENST00000609686 [[13693164, 13717573], [13719958, 13720197], [13722763, 13722951], [13724737, 13724898], [13761536, 13761766], [13764658, 13764784], [13768047, 13768201], [13768426, 13768598], [13769388, 13769591], [13828678, 13828793], [13906250, 13906849], [14018731, 14019160], [14132861, 14133053]] [[13715716, 13717573], [13719958, 13720197], [13722763, 13722951], [13724737, 13724898], [13761536, 13761766], [13764658, 13764784], [13768047, 13768201], [13768426, 13768598], [13769388, 13769591], [13828678, 13828793], [13906250, 13906849], [14018731, 14019142]]
NM_000834 [[13714409, 13717573], [13719958, 13720197], [13722763, 13722951], [13724737, 13724898], [13761536, 13761766], [13764658, 13764784], [13768047, 13768201], [13768426, 13768598], [13769388, 13769591], [13828678, 13828793], [13906250, 13906849], [14018731, 14019160], [14132861, 14133022]] [[13715716, 13717573], [13719958, 13720197], [13722763, 13722951], [13724737, 13724898], [13761536, 13761766], [13764658, 13764784], [13768047, 13768201], [13768426, 13768598], [13769388, 13769591], [13828678, 13828793], [13906250, 13906849], [14018731, 14019142]]
Promoter
Chrom Start End Description
chr12 14133154 14133159 CAGE_peak_4_at_GRIN2B_5end
chr12 14133348 14133359 CAGE_peak_1_at_GRIN2B_5end
chr12 14133429 14133438 CAGE_peak_3_at_GRIN2B_5end
chr12 14133540 14133551 CAGE_peak_2_at_GRIN2B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I013806 13806792 13807080 0.22 [{'connected_gene': 'FAM234B', 'score': 4.84}, {'connected_gene': 'GRIN2B', 'score': 1.89}, {'connected_gene': 'GC12P013804', 'score': 0.77}, {'connected_gene': 'GC12P013812', 'score': 0.44}]
chr12 GH12I013980 13980410 13980469 0.68 [{'connected_gene': 'GRIN2B', 'score': 550.77}, {'connected_gene': 'MGP', 'score': 4.81}, {'connected_gene': 'GC12P013958', 'score': 0.34}]
chr12 GH12I014167 14167147 14167296 0.56 [{'connected_gene': 'GRIN2B', 'score': 4.76}, {'connected_gene': 'ENSG00000256346', 'score': 0.77}, {'connected_gene': 'PIR60905', 'score': 0.28}, {'connected_gene': 'GC12P014132', 'score': 0.28}]
chr12 GH12I013704 13704200 13704423 0.22 [{'connected_gene': 'GRIN2B', 'score': 1.2}, {'connected_gene': 'GC12P013694', 'score': 0.44}, {'connected_gene': 'GC12P013718', 'score': 0.39}]
chr12 GH12I013950 13950627 13950776 0.6 [{'connected_gene': 'GRIN2B', 'score': 5.0}, {'connected_gene': 'GC12P013953', 'score': 0.77}, {'connected_gene': 'GC12P013943', 'score': 0.44}]
chr12 GH12I013825 13825565 13825832 0.34 [{'connected_gene': 'GRIN2B', 'score': 4.7}, {'connected_gene': 'GC12M013816', 'score': 0.77}, {'connected_gene': 'GC12P013812', 'score': 0.39}]
chr12 GH12I013659 13659327 13659587 0.33 [{'connected_gene': 'GRIN2B', 'score': 5.82}, {'connected_gene': 'GC12P013639', 'score': 0.34}, {'connected_gene': 'GC12P013684', 'score': 0.34}]
chr12 GH12I013934 13934902 13934961 0.61 [{'connected_gene': 'GRIN2B', 'score': 550.25}, {'connected_gene': 'GC12P013943', 'score': 0.44}, {'connected_gene': 'GC12P013894', 'score': 0.26}]
chr12 GH12I013982 13982147 13982296 0.43 [{'connected_gene': 'GRIN2B', 'score': 550.77}, {'connected_gene': 'GC12M013988', 'score': 0.44}]
chr12 GH12I013490 13490153 13490164 0.23 [{'connected_gene': 'RNU6-590P', 'score': 10.96}, {'connected_gene': 'GC12M013460', 'score': 0.29}, {'connected_gene': 'ENSG00000256306', 'score': 0.28}, {'connected_gene': 'GRIN2B', 'score': 0.04}]
chr12 GH12I013578 13578070 13582950 0.62 [{'connected_gene': 'LOC105369668', 'score': 550.77}, {'connected_gene': 'ENSG00000256306', 'score': 11.2}, {'connected_gene': 'GC12M013564', 'score': 0.39}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013583 13583141 13584216 0.2 [{'connected_gene': 'LOC105369668', 'score': 550.77}, {'connected_gene': 'GC12P013596', 'score': 0.39}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013661 13661407 13661556 0.54 [{'connected_gene': 'GC12P013639', 'score': 0.34}, {'connected_gene': 'GC12P013684', 'score': 0.34}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013864 13864227 13864376 0.56 [{'connected_gene': 'GC12P013875', 'score': 0.39}, {'connected_gene': 'GC12P013835', 'score': 0.31}, {'connected_gene': 'GRIN2B', 'score': 0.13}]
chr12 GH12I013749 13749243 13749756 0.31 [{'connected_gene': 'GC12P013745', 'score': 0.77}, {'connected_gene': 'GC12P013746', 'score': 0.77}, {'connected_gene': 'GC12P013756', 'score': 0.44}, {'connected_gene': 'GRIN2B', 'score': 0.07}]
chr12 GH12I013887 13887927 13888076 0.46 [{'connected_gene': 'GC12P013891', 'score': 0.77}, {'connected_gene': 'GC12P013875', 'score': 0.39}, {'connected_gene': 'GRIN2B', 'score': 0.16}]
chr12 GH12I013959 13959310 13959392 0.34 [{'connected_gene': 'GC12P013958', 'score': 550.77}, {'connected_gene': 'GRIN2B', 'score': 8.58}]
chr12 GH12I013534 13534601 13535056 0.74 [{'connected_gene': 'ENSG00000277935', 'score': 0.44}, {'connected_gene': 'ENSG00000256306', 'score': 0.44}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013557 13557584 13561722 0.56 [{'connected_gene': 'GC12M013564', 'score': 0.44}, {'connected_gene': 'ENSG00000277935', 'score': 0.37}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013800 13799167 13799316 0.2 [{'connected_gene': 'GC12P013804', 'score': 0.44}, {'connected_gene': 'PIR39908', 'score': 0.37}, {'connected_gene': 'GRIN2B', 'score': 0.09}]
chr12 GH12I013799 13799647 13799876 0.31 [{'connected_gene': 'GC12P013804', 'score': 0.77}, {'connected_gene': 'PIR39908', 'score': 0.37}, {'connected_gene': 'GRIN2B', 'score': 0.09}]
chr12 GH12I013537 13537835 13538420 0.63 [{'connected_gene': 'ENSG00000277935', 'score': 0.77}, {'connected_gene': 'ENSG00000256306', 'score': 0.39}, {'connected_gene': 'GRIN2B', 'score': 0.04}]
chr12 GH12I013941 13941002 13942436 0.95 [{'connected_gene': 'GC12P013943', 'score': 550.77}, {'connected_gene': 'GRIN2B', 'score': 0.26}, {'connected_gene': 'GC12P013894', 'score': 0.25}]
chr12 GH12I013562 13562666 13564782 0.31 [{'connected_gene': 'GC12M013564', 'score': 0.77}, {'connected_gene': 'ENSG00000277935', 'score': 0.34}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013851 13851987 13852116 0.56 [{'connected_gene': 'GC12P013835', 'score': 0.37}, {'connected_gene': 'GC12P013875', 'score': 0.34}, {'connected_gene': 'GRIN2B', 'score': 0.13}]
chr12 GH12I013628 13628883 13629193 0.22 [{'connected_gene': 'GC12P013620', 'score': 0.44}, {'connected_gene': 'GC12P013639', 'score': 0.39}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013739 13739747 13739876 0.6 [{'connected_gene': 'GC12M013744', 'score': 0.77}, {'connected_gene': 'GC12P013729', 'score': 0.39}, {'connected_gene': 'GRIN2B', 'score': 0.07}]
chr12 GH12I013536 13536607 13536756 0.66 [{'connected_gene': 'ENSG00000277935', 'score': 0.77}, {'connected_gene': 'ENSG00000256306', 'score': 0.44}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013566 13566709 13567670 0.2 [{'connected_gene': 'GC12M013564', 'score': 550.77}, {'connected_gene': 'ENSG00000277935', 'score': 0.31}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013727 13727947 13728056 0.46 [{'connected_gene': 'GC12P013729', 'score': 550.77}, {'connected_gene': 'GC12M013744', 'score': 0.37}, {'connected_gene': 'GRIN2B', 'score': 0.07}]
chr12 GH12I013525 13525628 13527233 0.57 [{'connected_gene': 'ENSG00000256306', 'score': 550.77}, {'connected_gene': 'GC12M013460', 'score': 0.2}, {'connected_gene': 'RNU6-590P', 'score': 0.2}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013509 13509628 13509690 0.22 [{'connected_gene': 'ENSG00000256306', 'score': 0.37}, {'connected_gene': 'GC12M013460', 'score': 0.25}, {'connected_gene': 'RNU6-590P', 'score': 0.25}, {'connected_gene': 'GRIN2B', 'score': 0.04}]
chr12 GH12I013524 13524957 13525254 0.25 [{'connected_gene': 'ENSG00000256306', 'score': 550.77}, {'connected_gene': 'GC12M013460', 'score': 0.2}, {'connected_gene': 'RNU6-590P', 'score': 0.2}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013573 13573827 13573976 0.63 [{'connected_gene': 'GC12M013564', 'score': 0.44}, {'connected_gene': 'LOC105369668', 'score': 0.44}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013610 13610007 13610156 0.54 [{'connected_gene': 'GC12P013620', 'score': 0.39}, {'connected_gene': 'GC12P013596', 'score': 0.39}, {'connected_gene': 'LOC105369668', 'score': 0.31}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013569 13569461 13572291 0.94 [{'connected_gene': 'GC12M013564', 'score': 0.77}, {'connected_gene': 'LOC105369668', 'score': 0.39}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013591 13591825 13592626 0.82 [{'connected_gene': 'GC12P013596', 'score': 0.77}, {'connected_gene': 'LOC105369668', 'score': 0.39}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013592 13591587 13591736 0.31 [{'connected_gene': 'GC12P013596', 'score': 0.77}, {'connected_gene': 'LOC105369668', 'score': 0.44}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013576 13576646 13577813 0.2 [{'connected_gene': 'ENSG00000256306', 'score': 11.2}, {'connected_gene': 'LOC105369668', 'score': 0.77}, {'connected_gene': 'GC12M013564', 'score': 0.44}, {'connected_gene': 'GRIN2B', 'score': 0.05}]
chr12 GH12I013595 13595129 13596296 0.58 [{'connected_gene': 'GC12P013596', 'score': 550.77}, {'connected_gene': 'LOC105369668', 'score': 0.39}, {'connected_gene': 'GRIN2B', 'score': 0.05}]