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
ENST00000588025 [[13033292, 13033700], [13034964, 13035079], [13035262, 13035340], [13035452, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039271], [13039348, 13039477], [13039568, 13039661], [13041036, 13041155], [13041242, 13041341], [13041425, 13041563], [13044363, 13044495], [13044575, 13044851]] [[13033561, 13033700], [13034964, 13035079], [13035262, 13035340], [13035452, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039271], [13039348, 13039477], [13039568, 13039661], [13041036, 13041155], [13041242, 13041341], [13041425, 13041563], [13044363, 13044495], [13044575, 13044710]]
ENST00000423140 [[13033293, 13033700], [13034964, 13035079], [13035262, 13035340], [13035452, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039271], [13039348, 13039477], [13041036, 13041155], [13041242, 13041341], [13041425, 13041563], [13044363, 13044528]] [[13033561, 13033700], [13034964, 13035079], [13035262, 13035340], [13035452, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039271], [13039348, 13039477], [13041036, 13041155], [13041242, 13041341], [13041425, 13041563], [13044363, 13044510]]
ENST00000314606 [[13033293, 13033700], [13034964, 13035079], [13035262, 13035340], [13035452, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039271], [13039348, 13039477], [13039568, 13039661], [13041036, 13041155], [13041242, 13041341], [13041425, 13041563], [13044363, 13044529]] [[13033561, 13033700], [13034964, 13035079], [13035262, 13035340], [13035452, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039271], [13039348, 13039477], [13039568, 13039661], [13041036, 13041155], [13041242, 13041341], [13041425, 13041563], [13044363, 13044510]]
ENST00000586146 [[13033343, 13033700], [13034964, 13035079], [13035262, 13035340], [13035452, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039271], [13039386, 13039477], [13039568, 13039661], [13041036, 13041155], [13041242, 13041341], [13041425, 13041563], [13044363, 13044510]] [[13039250, 13039271], [13039386, 13039477], [13039568, 13039661], [13041036, 13041155], [13041242, 13041341], [13041425, 13041563], [13044363, 13044510]]
ENST00000588965 [[13033353, 13033700], [13034964, 13035079], [13035262, 13035340], [13035452, 13035817], [13035903, 13035988], [13039155, 13039271], [13039348, 13039477], [13039568, 13039661], [13041036, 13041155], [13041242, 13041341], [13041425, 13041563], [13044363, 13044510]] None
ENST00000587488 [[13033358, 13033462], [13035494, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039253]] [[13033394, 13033462], [13035494, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039253]]
ENST00000593021 [[13034964, 13035079], [13035262, 13035340], [13035452, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039271], [13039348, 13039477], [13039568, 13039661], [13041036, 13041155], [13044363, 13044494]] [[13034964, 13035079], [13035262, 13035340], [13035452, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039271], [13039348, 13039477], [13039568, 13039661], [13041036, 13041155], [13044363, 13044494]]
ENST00000592662 [[13039211, 13039477], [13039568, 13039661], [13041036, 13041155], [13041242, 13041341], [13041425, 13041563], [13044363, 13044512]] None
ENST00000586280 [[13039223, 13039271], [13039348, 13039477], [13039568, 13039661], [13041036, 13041155], [13041242, 13041563], [13044363, 13044456]] None
ENST00000587981 [[13041120, 13041341], [13041425, 13041563], [13044363, 13044525]] [[13041120, 13041341], [13041425, 13041563], [13044363, 13044510]]
NM_004461 [[13033283, 13033700], [13034964, 13035079], [13035262, 13035340], [13035452, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039271], [13039348, 13039477], [13039568, 13039661], [13041036, 13041155], [13041242, 13041341], [13041425, 13041563], [13044363, 13044558]] [[13033561, 13033700], [13034964, 13035079], [13035262, 13035340], [13035452, 13035621], [13035717, 13035817], [13035903, 13035988], [13039155, 13039271], [13039348, 13039477], [13039568, 13039661], [13041036, 13041155], [13041242, 13041341], [13041425, 13041563], [13044363, 13044510]]
Promoter
Chrom Start End Description
chr19 13044513 13044543 CAGE_peak_1_at_FARSA_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I013793 13793101 13798593 2.25 [{'connected_gene': 'ZSWIM4', 'score': 550.77}, {'connected_gene': 'ENSG00000267582', 'score': 550.77}, {'connected_gene': 'GC19P013795', 'score': 550.77}, {'connected_gene': 'LOC284454', 'score': 14.43}, {'connected_gene': 'DDX39A', 'score': 14.25}, {'connected_gene': 'C19orf53', 'score': 13.25}, {'connected_gene': 'MRI1', 'score': 13.2}, {'connected_gene': 'MIR23A', 'score': 12.66}, {'connected_gene': 'MIR27A', 'score': 12.66}, {'connected_gene': 'MIR24-2', 'score': 12.66}, {'connected_gene': 'DCAF15', 'score': 11.91}, {'connected_gene': 'RFX1', 'score': 11.6}, {'connected_gene': 'FARSA', 'score': 10.33}, {'connected_gene': 'SYCE2', 'score': 9.69}]
chr19 GH19I013115 13115082 13122789 2.59 [{'connected_gene': 'TRMT1', 'score': 595.16}, {'connected_gene': 'NACC1', 'score': 550.77}, {'connected_gene': 'ZNF791', 'score': 69.39}, {'connected_gene': 'ZNF136', 'score': 63.8}, {'connected_gene': 'ZNF442', 'score': 56.66}, {'connected_gene': 'CCDC130', 'score': 54.69}, {'connected_gene': 'MRI1', 'score': 52.14}, {'connected_gene': 'ZNF564', 'score': 45.93}, {'connected_gene': 'WDR83OS', 'score': 44.97}, {'connected_gene': 'ZNF44', 'score': 44.94}, {'connected_gene': 'RPS6P25', 'score': 39.82}, {'connected_gene': 'ZNF799', 'score': 36.73}, {'connected_gene': 'ZNF625', 'score': 32.88}, {'connected_gene': 'TRIR', 'score': 24.25}, {'connected_gene': 'LOC105372278', 'score': 18.58}, {'connected_gene': 'RFX1', 'score': 17.82}, {'connected_gene': 'LOC284454', 'score': 14.19}, {'connected_gene': 'ENSG00000268945', 'score': 11.83}, {'connected_gene': 'NANOS3', 'score': 11.52}, {'connected_gene': 'TNPO2', 'score': 10.13}, {'connected_gene': 'ZNF563', 'score': 9.86}, {'connected_gene': 'ZNF709', 'score': 9.81}, {'connected_gene': 'ZNF20', 'score': 9.8}, {'connected_gene': 'MAN2B1', 'score': 9.79}, {'connected_gene': 'FARSA', 'score': 5.2}, {'connected_gene': 'JUNB', 'score': 2.91}, {'connected_gene': 'WDR83', 'score': 1.94}, {'connected_gene': 'ENSG00000266897', 'score': 0.39}]
chr19 GH19I012932 12932348 12934628 2.25 [{'connected_gene': 'FARSA', 'score': 550.77}, {'connected_gene': 'GCDH', 'score': 16.67}, {'connected_gene': 'DNASE2', 'score': 7.79}, {'connected_gene': 'FARSA-AS1', 'score': 0.77}]
chr19 GH19I012931 12931552 12932129 0.43 [{'connected_gene': 'FARSA-AS1', 'score': 550.77}, {'connected_gene': 'FARSA', 'score': 0.77}]

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