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
ENST00000273352 [[100328432, 100328815], [100348441, 100348555], [100349548, 100349653], [100352108, 100352221], [100354520, 100354670], [100356145, 100356246], [100362109, 100362249], [100362369, 100362477], [100364788, 100364952], [100365412, 100365568], [100368538, 100368651], [100373678, 100374025], [100374742, 100374839], [100378531, 100378687], [100387792, 100387949], [100413587, 100414323]] [[100328700, 100328815], [100348441, 100348555], [100349548, 100349653], [100352108, 100352221], [100354520, 100354670], [100356145, 100356246], [100362109, 100362249], [100362369, 100362477], [100364788, 100364952], [100365412, 100365568], [100368538, 100368651], [100373678, 100374025], [100374742, 100374839], [100378531, 100378687], [100387792, 100387949], [100413587, 100413845]]
ENST00000475887 [[100354441, 100354670], [100356145, 100356246], [100364788, 100364952], [100365412, 100365568], [100368538, 100368651], [100373678, 100374025], [100374742, 100374839], [100378531, 100378687], [100387792, 100387949], [100413587, 100414102]] [[100356185, 100356246], [100364788, 100364952], [100365412, 100365568], [100368538, 100368651], [100373678, 100374025], [100374742, 100374839], [100378531, 100378687], [100387792, 100387949], [100413587, 100413845]]
ENST00000481506 [[100373039, 100374025], [100374742, 100374839], [100378531, 100378687], [100387792, 100387949], [100413587, 100414182]] None
ENST00000481361 [[100354381, 100354670], [100356145, 100356246], [100362109, 100362249], [100362369, 100362452]] None
ENST00000493081 [[100354383, 100354670], [100356145, 100356419]] None
NM_032787 [[100328432, 100328815], [100348441, 100348555], [100349548, 100349653], [100352108, 100352221], [100354520, 100354670], [100356145, 100356246], [100362109, 100362249], [100362369, 100362477], [100364788, 100364952], [100365412, 100365568], [100368538, 100368651], [100373678, 100374025], [100374742, 100374839], [100378531, 100378687], [100387792, 100387949], [100413587, 100414323]] [[100328700, 100328815], [100348441, 100348555], [100349548, 100349653], [100352108, 100352221], [100354520, 100354670], [100356145, 100356246], [100362109, 100362249], [100362369, 100362477], [100364788, 100364952], [100365412, 100365568], [100368538, 100368651], [100373678, 100374025], [100374742, 100374839], [100378531, 100378687], [100387792, 100387949], [100413587, 100413845]]
NM_001308362 [[100354381, 100354670], [100356145, 100356246], [100364788, 100364952], [100365412, 100365568], [100368538, 100368651], [100373678, 100374025], [100374742, 100374839], [100378531, 100378687], [100387792, 100387949], [100413587, 100414323]] [[100356185, 100356246], [100364788, 100364952], [100365412, 100365568], [100368538, 100368651], [100373678, 100374025], [100374742, 100374839], [100378531, 100378687], [100387792, 100387949], [100413587, 100413845]]
Promoter
Chrom Start End Description
chr3 100328439 100328459 CAGE_peak_1_at_GPR128_5end
chr3 100328486 100328495 CAGE_peak_4_at_GPR128_5end
chr3 100354446 100354464 CAGE_peak_3_at_GPR128_5end
chr3 100354532 100354545 CAGE_peak_2_at_GPR128_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I100608 100608852 100616052 1.47 [{'connected_gene': 'ADGRG7', 'score': 550.77}, {'connected_gene': 'TFG', 'score': 16.39}, {'connected_gene': 'ENSG00000252989', 'score': 11.27}, {'connected_gene': 'TOMM70', 'score': 5.81}, {'connected_gene': 'TMEM45A', 'score': 5.01}, {'connected_gene': 'LNP1', 'score': 4.8}, {'connected_gene': 'GC03M100588', 'score': 0.37}]
chr3 GH03I100639 100639888 100642774 1.21 [{'connected_gene': 'TFG', 'score': 15.53}, {'connected_gene': 'ADGRG7', 'score': 11.19}, {'connected_gene': 'TMEM45A', 'score': 5.61}, {'connected_gene': 'LNP1', 'score': 4.07}, {'connected_gene': 'ENSG00000252989', 'score': 0.77}, {'connected_gene': 'GC03M100588', 'score': 0.39}]
chr3 GH03I100599 100599715 100601560 0.76 [{'connected_gene': 'TFG', 'score': 18.31}, {'connected_gene': 'TMEM45A', 'score': 6.36}, {'connected_gene': 'ADGRG7', 'score': 0.44}, {'connected_gene': 'GC03P100589', 'score': 0.39}, {'connected_gene': 'GC03M100588', 'score': 0.31}]
chr3 GH03I100602 100602130 100604042 1.26 [{'connected_gene': 'TFG', 'score': 18.18}, {'connected_gene': 'TMEM45A', 'score': 6.6}, {'connected_gene': 'ADGRG7', 'score': 0.44}, {'connected_gene': 'GC03P100589', 'score': 0.39}, {'connected_gene': 'GC03M100588', 'score': 0.31}]
chr3 GH03I100634 100634595 100637404 1.29 [{'connected_gene': 'TFG', 'score': 7.61}, {'connected_gene': 'TMEM45A', 'score': 5.89}, {'connected_gene': 'LNP1', 'score': 4.29}, {'connected_gene': 'GC03M100588', 'score': 0.44}, {'connected_gene': 'ENSG00000252989', 'score': 0.39}, {'connected_gene': 'ADGRG7', 'score': 0.31}]
chr3 GH03I100591 100591089 100592181 0.69 [{'connected_gene': 'TFG', 'score': 18.35}, {'connected_gene': 'LNP1', 'score': 10.96}, {'connected_gene': 'TOMM70', 'score': 10.96}, {'connected_gene': 'TMEM45A', 'score': 7.45}, {'connected_gene': 'GC03P100589', 'score': 0.77}, {'connected_gene': 'ADGRG7', 'score': 0.37}, {'connected_gene': 'GC03M100588', 'score': 0.28}]
chr3 GH03I100681 100681008 100683899 0.59 [{'connected_gene': 'TFG', 'score': 18.31}, {'connected_gene': 'ENSG00000252989', 'score': 11.58}, {'connected_gene': 'LNP1', 'score': 9.32}, {'connected_gene': 'TMEM45A', 'score': 4.58}, {'connected_gene': 'GMFBP1', 'score': 0.37}, {'connected_gene': 'ADGRG7', 'score': 0.19}]
chr3 GH03I100650 100650561 100651655 0.95 [{'connected_gene': 'TFG', 'score': 18.07}, {'connected_gene': 'ENSG00000252989', 'score': 0.77}, {'connected_gene': 'GMFBP1', 'score': 0.39}, {'connected_gene': 'ADGRG7', 'score': 0.26}]
chr3 GH03I100665 100665201 100665400 0.38 [{'connected_gene': 'GMFBP1', 'score': 550.77}, {'connected_gene': 'TFG', 'score': 12.03}, {'connected_gene': 'ADGRG7', 'score': 10.98}, {'connected_gene': 'ENSG00000252989', 'score': 0.37}]
chr3 GH03I100590 100590401 100590959 1.11 [{'connected_gene': 'GC03P100589', 'score': 550.77}, {'connected_gene': 'LNP1', 'score': 10.34}, {'connected_gene': 'TOMM70', 'score': 10.34}, {'connected_gene': 'TMEM45A', 'score': 7.45}, {'connected_gene': 'ADGRG7', 'score': 0.37}, {'connected_gene': 'GC03M100588', 'score': 0.28}]
chr3 GH03I100628 100628957 100630628 0.96 [{'connected_gene': 'GC03M100588', 'score': 550.77}, {'connected_gene': 'TFG', 'score': 17.2}, {'connected_gene': 'ADGRG7', 'score': 13.22}, {'connected_gene': 'ENSG00000252989', 'score': 0.37}]
chr3 GH03I100696 100696437 100699565 0.71 [{'connected_gene': 'ENSG00000252989', 'score': 10.27}, {'connected_gene': 'TFG', 'score': 8.44}, {'connected_gene': 'LNP1', 'score': 8.31}, {'connected_gene': 'ADGRG7', 'score': 8.13}, {'connected_gene': 'GMFBP1', 'score': 0.29}]