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
ENST00000262375 [[4475805, 4476093], [4484384, 4484518], [4487402, 4487486], [4491375, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4504811, 4504928], [4505546, 4506776]] [[4475882, 4476093], [4484384, 4484518], [4487402, 4487486], [4491375, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4504811, 4504915]]
ENST00000355296 [[4475860, 4476093], [4484384, 4484518], [4487402, 4487486], [4491375, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4505546, 4506776]] [[4475882, 4476093], [4484384, 4484518], [4487402, 4487486], [4491375, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4505546, 4505569]]
ENST00000570857 [[4475865, 4476093], [4487402, 4487486], [4491375, 4491576], [4492268, 4492309]] [[4475882, 4476093], [4487402, 4487425]]
ENST00000575106 [[4475865, 4476093], [4481599, 4481673], [4484384, 4484518], [4487402, 4487486], [4491375, 4491576], [4492268, 4492384]] [[4475882, 4476093], [4481599, 4481673], [4484384, 4484468]]
ENST00000431375 [[4475865, 4476093], [4491506, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4505546, 4505952]] [[4475992, 4476093], [4491506, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4505546, 4505569]]
ENST00000576911 [[4475865, 4476093], [4491506, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4505546, 4505952]] [[4475882, 4476093], [4491506, 4491576], [4492268, 4492284]]
ENST00000572974 [[4475868, 4476093], [4481599, 4481869]] None
ENST00000574895 [[4475879, 4476093], [4484384, 4484518], [4487402, 4487486], [4492268, 4492394]] [[4475882, 4476093], [4484384, 4484518], [4487402, 4487486], [4492268, 4492394]]
ENST00000573120 [[4476048, 4476093], [4484384, 4484518], [4487402, 4487626]] None
ENST00000572139 [[4483846, 4484103], [4484384, 4484518], [4487402, 4487486], [4491375, 4491478]] None
ENST00000572009 [[4484298, 4484518], [4487402, 4487486], [4491375, 4491402]] None
ENST00000577083 [[4490257, 4491576], [4492268, 4493165], [4494664, 4494729], [4496886, 4497956]] None
ENST00000576180 [[4499554, 4500498], [4504811, 4504928], [4505546, 4506773]] None
ENST00000574393 [[4505492, 4505781], [4506488, 4506776]] None
NM_001286516 [[4475805, 4476093], [4491506, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4505546, 4506776]] [[4475992, 4476093], [4491506, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4505546, 4505569]]
NM_001135110 [[4475805, 4476093], [4484384, 4484518], [4487402, 4487486], [4491375, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4505546, 4506776]] [[4475882, 4476093], [4484384, 4484518], [4487402, 4487486], [4491375, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4505546, 4505569]]
NM_005147 [[4475805, 4476093], [4484384, 4484518], [4487402, 4487486], [4491375, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4504811, 4504928], [4505546, 4506776]] [[4475882, 4476093], [4484384, 4484518], [4487402, 4487486], [4491375, 4491576], [4492268, 4492421], [4493017, 4493165], [4494664, 4494729], [4496886, 4497015], [4498733, 4498849], [4500400, 4500498], [4504811, 4504915]]
Promoter
Chrom Start End Description
chr16 4475853 4475887 CAGE_peak_1_at_DNAJA3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I004424 4424442 4427745 2.09 [{'connected_gene': 'CORO7', 'score': 550.77}, {'connected_gene': 'DNAJA3', 'score': 550.77}, {'connected_gene': 'ENSG00000277170', 'score': 550.77}, {'connected_gene': 'NMRAL1', 'score': 28.9}, {'connected_gene': 'CREBBP', 'score': 23.76}, {'connected_gene': 'ZNF500', 'score': 22.05}, {'connected_gene': 'ZNF597', 'score': 18.91}, {'connected_gene': 'ANKS3', 'score': 15.33}, {'connected_gene': 'UBN1', 'score': 14.68}, {'connected_gene': 'HMOX2', 'score': 12.75}, {'connected_gene': 'CLUAP1', 'score': 12.57}, {'connected_gene': 'LOC102724927', 'score': 10.62}, {'connected_gene': 'MGRN1', 'score': 6.49}]
chr16 GH16I004454 4454169 4455150 0.52 [{'connected_gene': 'GC16P004458', 'score': 0.77}, {'connected_gene': 'ENSG00000275515', 'score': 0.34}, {'connected_gene': 'DNAJA3', 'score': 0.31}]
chr16 GH16I004435 4435092 4435391 0.31 [{'connected_gene': 'ENSG00000275515', 'score': 550.77}, {'connected_gene': 'DNAJA3', 'score': 0.44}, {'connected_gene': 'GC16P004458', 'score': 0.34}]
chr16 GH16I004436 4435820 4435969 0.46 [{'connected_gene': 'ENSG00000275515', 'score': 0.77}, {'connected_gene': 'DNAJA3', 'score': 0.39}, {'connected_gene': 'GC16P004458', 'score': 0.34}]
chr16 GH16I004433 4433251 4434793 0.87 [{'connected_gene': 'ENSG00000275515', 'score': 550.77}, {'connected_gene': 'NMRAL1', 'score': 40.23}, {'connected_gene': 'DNAJA3', 'score': 0.44}, {'connected_gene': 'GC16P004458', 'score': 0.34}]