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
ENST00000322067 [[220230823, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247413], [220253068, 220253196], [220263027, 220263191]] [[220232185, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247413], [220253068, 220253188]]
ENST00000469520 [[220230825, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247413], [220253068, 220253196], [220263027, 220263293], [220263628, 220263804]] [[220232185, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247413], [220253068, 220253188]]
ENST00000354807 [[220231072, 220231259], [220232287, 220232334], [220233027, 220233133], [220236098, 220236296], [220239414, 220239459], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247413], [220253068, 220253196], [220263027, 220263114]] [[220231253, 220231259], [220232287, 220232334], [220233027, 220233133], [220236098, 220236296], [220239414, 220239459], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247413], [220253068, 220253188]]
ENST00000544404 [[220231791, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247413], [220262985, 220263175]] [[220232185, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247368]]
ENST00000414869 [[220231940, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220247308, 220247413], [220253068, 220253196], [220263027, 220263139]] [[220232185, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220247308, 220247413], [220253068, 220253188]]
ENST00000482136 [[220236140, 220236296], [220240371, 220240467], [220240643, 220240735], [220242725, 220242774], [220247308, 220247413], [220263027, 220263075]] None
ENST00000463953 [[220236152, 220236296], [220240643, 220240735], [220242725, 220242774], [220247308, 220247413], [220253068, 220253196], [220262985, 220263111]] [[220236152, 220236296], [220240643, 220240735], [220242725, 220242774], [220247308, 220247413], [220253068, 220253188]]
ENST00000498791 [[220236253, 220236296], [220240643, 220240735], [220242725, 220242774], [220247308, 220247413], [220253068, 220253196], [220263027, 220263169]] [[220236253, 220236296], [220240643, 220240735], [220242725, 220242774], [220247308, 220247413], [220253068, 220253188]]
ENST00000480959 [[220236257, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247413], [220262985, 220263175]] [[220236257, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247368]]
ENST00000548668 [[220240356, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247409]] None
ENST00000498237 [[220242723, 220242774], [220246191, 220246299], [220247308, 220247413], [220253068, 220253196], [220262985, 220263154]] [[220242723, 220242774], [220246191, 220246299], [220247308, 220247413], [220253068, 220253188]]
NM_001286151 [[220230823, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247413], [220262985, 220263195]] [[220232185, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247368]]
NM_006085 [[220230823, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247413], [220253068, 220253196], [220263027, 220263195]] [[220232185, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247413], [220253068, 220253188]]
NM_001286150 [[220230823, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220247308, 220247413], [220253068, 220253196], [220263027, 220263195]] [[220232185, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220247308, 220247413], [220253068, 220253188]]
NM_001286149 [[220230823, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247413], [220263027, 220263195]] [[220232185, 220232334], [220233027, 220233133], [220236098, 220236296], [220240643, 220240735], [220242725, 220242774], [220246191, 220246299], [220247308, 220247368]]
Promoter
Chrom Start End Description
chr1 220263096 220263192 CAGE_peak_1_at_BPNT1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I143126 143126000 143126401 0.66 [{'connected_gene': 'KEL', 'score': 16.69}, {'connected_gene': 'LLCFC1', 'score': 10.1}, {'connected_gene': 'TRPV5', 'score': 10.1}, {'connected_gene': 'TMEM139', 'score': 4.9}, {'connected_gene': 'PIP', 'score': 0.44}, {'connected_gene': 'OR6W1P', 'score': 0.21}]
chr7 GH07I143098 143098761 143099162 0.35 [{'connected_gene': 'OR6V1', 'score': 12.92}, {'connected_gene': 'OR9P1P', 'score': 11.64}, {'connected_gene': 'TAS2R39', 'score': 11.07}, {'connected_gene': 'PIP', 'score': 0.29}, {'connected_gene': 'OR6W1P', 'score': 0.28}]
chr7 GH07I143120 143120202 143121486 0.43 [{'connected_gene': 'OR6V1', 'score': 11.28}, {'connected_gene': 'TAS2R39', 'score': 11.27}, {'connected_gene': 'OR9P1P', 'score': 11.27}, {'connected_gene': 'KEL', 'score': 10.2}, {'connected_gene': 'LLCFC1', 'score': 10.18}, {'connected_gene': 'TRPV5', 'score': 10.18}, {'connected_gene': 'TMEM139', 'score': 4.9}, {'connected_gene': 'TCAF2', 'score': 4.68}, {'connected_gene': 'GSTK1', 'score': 4.24}, {'connected_gene': 'PIP', 'score': 0.39}, {'connected_gene': 'OR6W1P', 'score': 0.22}]
chr1 GH01I220270 220270912 220273472 2.08 [{'connected_gene': 'RAB3GAP2', 'score': 567.35}, {'connected_gene': 'RPS15AP12', 'score': 15.79}, {'connected_gene': 'SNX2P1', 'score': 10.9}, {'connected_gene': 'BPNT1', 'score': 4.44}, {'connected_gene': 'AURKAPS1', 'score': 0.77}]
chr7 GH07I143132 143132028 143132087 0.61 [{'connected_gene': 'PIP', 'score': 550.77}, {'connected_gene': 'OR6W1P', 'score': 0.2}]
chr1 GH01I220088 220088800 220090760 2.06 [{'connected_gene': 'BPNT1', 'score': 550.77}, {'connected_gene': 'RPS15AP12', 'score': 13.6}, {'connected_gene': 'ZC3H11B', 'score': 12.59}, {'connected_gene': 'RIMKLBP2', 'score': 10.4}, {'connected_gene': 'EPRS', 'score': 5.99}, {'connected_gene': 'PIR35692', 'score': 0.29}]
chr1 GH01I220084 220084195 220085566 0.49 [{'connected_gene': 'BPNT1', 'score': 0.44}, {'connected_gene': 'PIR35692', 'score': 0.31}]
chr1 GH01I220086 220086259 220086428 0.72 [{'connected_gene': 'BPNT1', 'score': 0.77}, {'connected_gene': 'PIR35692', 'score': 0.31}]
chr1 GH01I220085 220085597 220085683 0.2 [{'connected_gene': 'BPNT1', 'score': 0.77}, {'connected_gene': 'PIR35692', 'score': 0.31}]
chr1 GH01I220219 220219141 220222907 1.06 [{'connected_gene': 'ENSG00000270708', 'score': 550.77}, {'connected_gene': 'RAB3GAP2', 'score': 13.46}, {'connected_gene': 'BPNT1', 'score': 1.82}, {'connected_gene': 'EPRS', 'score': 1.28}, {'connected_gene': 'GC01P220248', 'score': 0.31}]