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
ENST00000439649 [[117816443, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118029014, 118029098], [118030333, 118030627], [118031501, 118031787], [118032674, 118032796]] [[117823908, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118029014, 118029098], [118030333, 118030627], [118031501, 118031541]]
ENST00000369236 [[117822952, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118029014, 118029098], [118030333, 118030627], [118031501, 118031794]] [[117823908, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118029014, 118029098], [118030333, 118030627], [118031501, 118031541]]
ENST00000355422 [[117823274, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [117971142, 117971157], [118029014, 118029098], [118030333, 118030627], [118031501, 118031787], [118032674, 118032979]] [[117823908, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [117971142, 117971157], [118029014, 118029098], [118030333, 118030627], [118031501, 118031541]]
ENST00000544592 [[117823726, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118015145, 118015307]] [[117823908, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118015145, 118015215]]
ENST00000369234 [[117823911, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [117971142, 117971157], [118029014, 118029098], [118030333, 118030627], [118031501, 118031787], [118032379, 118032545]] [[117823911, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [117971142, 117971157], [118029014, 118029098], [118030333, 118030627], [118031501, 118031541]]
ENST00000490345 [[118031515, 118031787], [118032072, 118032155]] None
NM_001348099 [[117816435, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118015145, 118015307]] [[117823908, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118015145, 118015215]]
NM_145793 [[117816435, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118029014, 118029098], [118030333, 118030627], [118031501, 118031819]] [[117823908, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118029014, 118029098], [118030333, 118030627], [118031501, 118031541]]
NM_001348098 [[117816435, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [117971142, 117971157], [118029014, 118029098], [118030333, 118030627], [118031501, 118031787], [118032072, 118032165]] [[117823908, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [117971142, 117971157], [118029014, 118029098], [118030333, 118030627], [118031501, 118031541]]
NM_001348096 [[117816435, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118029014, 118029098], [118030333, 118030627], [118031501, 118031787], [118032379, 118032521]] [[117823908, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118029014, 118029098], [118030333, 118030627], [118031501, 118031541]]
NM_005264 [[117816435, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [117971142, 117971157], [118029014, 118029098], [118030333, 118030627], [118031501, 118031787], [118032674, 118033157]] [[117823908, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [117971142, 117971157], [118029014, 118029098], [118030333, 118030627], [118031501, 118031541]]
NM_001348097 [[117816435, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [117971142, 117971157], [118029014, 118029098], [118030333, 118030627], [118031501, 118031787], [118032674, 118033157]] [[117823908, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [117971142, 117971157], [118029014, 118029098], [118030333, 118030627], [118031501, 118031541]]
NM_001145453 [[117816435, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118029014, 118029098], [118030333, 118030627], [118031501, 118031787], [118032674, 118033157]] [[117823908, 117824055], [117825083, 117825137], [117849251, 117849433], [117853212, 117853347], [117856165, 117856275], [117884731, 117885068], [118029014, 118029098], [118030333, 118030627], [118031501, 118031541]]
Promoter
Chrom Start End Description
chr10 117820754 117820758 CAGE_peak_8_at_GFRA1_5end
chr10 118031671 118031683 CAGE_peak_9_at_GFRA1_5end
chr10 118031691 118031706 CAGE_peak_5_at_GFRA1_5end
chr10 118031730 118031758 CAGE_peak_1_at_GFRA1_5end
chr10 118031778 118031792 CAGE_peak_7_at_GFRA1_5end
chr10 118031798 118031838 CAGE_peak_4_at_GFRA1_5end
chr10 118032133 118032181 CAGE_peak_2_at_GFRA1_5end
chr10 118032697 118032725 CAGE_peak_3_at_GFRA1_5end
chr10 118033119 118033132 CAGE_peak_10_at_GFRA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I116218 116218505 116219339 0.2 [{'connected_gene': 'PNLIPRP1', 'score': 4.63}, {'connected_gene': 'GFRA1', 'score': 0.23}, {'connected_gene': 'GC10M115985', 'score': 0.13}]
chr10 GH10I116269 116269742 116275424 2.16 [{'connected_gene': 'GFRA1', 'score': 555.32}, {'connected_gene': 'HSPA12A', 'score': 5.52}, {'connected_gene': 'GC10M115985', 'score': 0.1}]
chr10 GH10I116296 116296013 116296915 0.38 [{'connected_gene': 'GFRA1', 'score': 12.12}, {'connected_gene': 'C10orf82', 'score': 4.67}, {'connected_gene': 'GC10P116277', 'score': 0.37}, {'connected_gene': 'CCDC172', 'score': 0.31}]
chr10 GH10I116044 116044562 116045392 0.59 [{'connected_gene': 'GFRA1', 'score': 5.19}, {'connected_gene': 'GC10M115985', 'score': 0.23}, {'connected_gene': 'GC10M115974', 'score': 0.2}]
chr10 GH10I116189 116189905 116191498 0.57 [{'connected_gene': 'GFRA1', 'score': 0.18}, {'connected_gene': 'GC10M115985', 'score': 0.15}]
chr10 GH10I116204 116204517 116205078 0.2 [{'connected_gene': 'GFRA1', 'score': 0.2}, {'connected_gene': 'GC10M115985', 'score': 0.14}]
chr10 GH10I116171 116171029 116171178 0.7 [{'connected_gene': 'GFRA1', 'score': 12.51}, {'connected_gene': 'GC10M115985', 'score': 0.18}]
chr10 GH10I116196 116196848 116204236 0.59 [{'connected_gene': 'GFRA1', 'score': 0.19}, {'connected_gene': 'GC10M115985', 'score': 0.15}]
chr10 GH10I116192 116192009 116193075 0.2 [{'connected_gene': 'GFRA1', 'score': 0.18}, {'connected_gene': 'GC10M115985', 'score': 0.15}]
chr10 GH10I116205 116205681 116206628 0.2 [{'connected_gene': 'GFRA1', 'score': 0.2}, {'connected_gene': 'GC10M115985', 'score': 0.14}]
chr10 GH10I116210 116210169 116211632 0.76 [{'connected_gene': 'GFRA1', 'score': 0.21}, {'connected_gene': 'GC10M115985', 'score': 0.13}]
chr10 GH10I116242 116242149 116242298 0.2 [{'connected_gene': 'GFRA1', 'score': 0.29}, {'connected_gene': 'GC10M115985', 'score': 0.11}]
chr10 GH10I116253 116253809 116253958 0.2 [{'connected_gene': 'GFRA1', 'score': 0.37}, {'connected_gene': 'GC10M115985', 'score': 0.1}]
chr10 GH10I116194 116194435 116195605 0.54 [{'connected_gene': 'GFRA1', 'score': 8.38}, {'connected_gene': 'GC10M115985', 'score': 0.15}]
chr10 GH10I116211 116211769 116211938 0.89 [{'connected_gene': 'GFRA1', 'score': 0.21}, {'connected_gene': 'GC10M115985', 'score': 0.13}]
chr10 GH10I116240 116240975 116242016 0.2 [{'connected_gene': 'GFRA1', 'score': 0.29}, {'connected_gene': 'GC10M115985', 'score': 0.11}]
chr10 GH10I116254 116254288 116255870 0.38 [{'connected_gene': 'GFRA1', 'score': 0.37}, {'connected_gene': 'GC10M115985', 'score': 0.1}]
chr10 GH10I116216 116216698 116217638 0.6 [{'connected_gene': 'GFRA1', 'score': 0.22}, {'connected_gene': 'GC10M115985', 'score': 0.13}]
chr10 GH10I116212 116212458 116214709 0.38 [{'connected_gene': 'GFRA1', 'score': 0.21}, {'connected_gene': 'GC10M115985', 'score': 0.13}]
chr10 GH10I116214 116214946 116216646 0.31 [{'connected_gene': 'GFRA1', 'score': 0.22}, {'connected_gene': 'GC10M115985', 'score': 0.13}]
chr10 GH10I116080 116080610 116080859 0.62 [{'connected_gene': 'GC10M115985', 'score': 0.39}, {'connected_gene': 'GC10M115974', 'score': 0.15}, {'connected_gene': 'GFRA1', 'score': 0.08}]
chr10 GH10I116057 116057070 116057159 0.92 [{'connected_gene': 'GC10M115985', 'score': 0.28}, {'connected_gene': 'GC10M115974', 'score': 0.18}, {'connected_gene': 'GFRA1', 'score': 0.08}]