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
ENST00000599761 [[4641385, 4641662], [4659942, 4660015], [4660680, 4660762], [4664887, 4664918]] [[4641594, 4641662], [4659942, 4660015], [4660680, 4660762], [4664887, 4664918]]
ENST00000262947 [[4657556, 4658096], [4659942, 4660015], [4660680, 4660762], [4664887, 4664949], [4668606, 4668657], [4670172, 4670382]] [[4658016, 4658096], [4659942, 4660015], [4660680, 4660762], [4664887, 4664949], [4668606, 4668657], [4670172, 4670346]]
ENST00000599630 [[4659699, 4660015], [4660680, 4660762], [4664887, 4664949], [4668606, 4668657], [4670172, 4670374]] [[4659814, 4660015], [4660680, 4660762], [4664887, 4664949], [4668606, 4668657], [4670172, 4670346]]
ENST00000596031 [[4660591, 4660762], [4664887, 4664949], [4668606, 4668708]] None
NM_019107 [[4657556, 4658096], [4659942, 4660015], [4660680, 4660762], [4664887, 4664949], [4668606, 4668657], [4670172, 4670415]] [[4658016, 4658096], [4659942, 4660015], [4660680, 4660762], [4664887, 4664949], [4668606, 4668657], [4670172, 4670346]]
Promoter
Chrom Start End Description
chr19 4670345 4670382 CAGE_peak_1_at_C19orf10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I004152 4152544 4155132 1.4 [{'connected_gene': 'CREB3L3', 'score': 550.77}, {'connected_gene': 'CACTIN-AS1', 'score': 12.77}, {'connected_gene': 'PIAS4', 'score': 10.18}, {'connected_gene': 'LRG1', 'score': 5.54}, {'connected_gene': 'MYDGF', 'score': 4.56}, {'connected_gene': 'GC19M004146', 'score': 0.77}]
chr19 GH19I004114 4114190 4116387 1.08 [{'connected_gene': 'MAP2K2', 'score': 5.82}, {'connected_gene': 'MYDGF', 'score': 5.4}, {'connected_gene': 'ZBTB7A', 'score': 4.96}]
chr19 GH19I004112 4112212 4112982 0.31 [{'connected_gene': 'MAP2K2', 'score': 5.68}, {'connected_gene': 'MYDGF', 'score': 5.36}, {'connected_gene': 'ZBTB7A', 'score': 0.25}]
chr19 GH19I004692 4692233 4698010 1.22 [{'connected_gene': 'MYDGF', 'score': 8.46}, {'connected_gene': 'GC19M004658', 'score': 0.39}, {'connected_gene': 'LOC105372250', 'score': 0.31}, {'connected_gene': 'DPP9', 'score': 0.31}]
chr19 GH19I004704 4704170 4706408 1.02 [{'connected_gene': 'MYDGF', 'score': 8.7}, {'connected_gene': 'LOC105372250', 'score': 0.37}, {'connected_gene': 'DPP9', 'score': 0.37}, {'connected_gene': 'GC19M004658', 'score': 0.34}]
chr19 GH19I004668 4668969 4671885 2.04 [{'connected_gene': 'MYDGF', 'score': 558.05}, {'connected_gene': 'SNRPEP4', 'score': 12.57}, {'connected_gene': 'HDGFL2', 'score': 11.42}, {'connected_gene': 'SAFB', 'score': 10.33}, {'connected_gene': 'DPP9-AS1', 'score': 0.44}, {'connected_gene': 'GC19M004658', 'score': 0.39}]
chr19 GH19I005155 5155230 5156904 0.43 [{'connected_gene': 'ZNRF4', 'score': 10.14}, {'connected_gene': 'MYDGF', 'score': 5.83}, {'connected_gene': 'PIR36975', 'score': 0.39}, {'connected_gene': 'GC19P005167', 'score': 0.39}]
chr19 GH19I004676 4676189 4677838 0.89 [{'connected_gene': 'DPP9-AS1', 'score': 0.77}, {'connected_gene': 'GC19M004658', 'score': 0.44}, {'connected_gene': 'MYDGF', 'score': 0.44}, {'connected_gene': 'DPP9', 'score': 0.25}]
chr19 GH19I005170 5170430 5175140 1.09 [{'connected_gene': 'SNRPEP4', 'score': 14.37}, {'connected_gene': 'DUS3L', 'score': 14.17}, {'connected_gene': 'CCDC94', 'score': 10.44}, {'connected_gene': 'PLIN3', 'score': 10.42}, {'connected_gene': 'SAFB2', 'score': 10.14}, {'connected_gene': 'MYDGF', 'score': 5.74}, {'connected_gene': 'PTPRS', 'score': 4.52}, {'connected_gene': 'ENSG00000267550', 'score': 0.44}, {'connected_gene': 'GC19P005167', 'score': 0.44}]
chr19 GH19I004644 4644668 4649076 0.86 [{'connected_gene': 'GC19M004643', 'score': 550.77}, {'connected_gene': 'MYDGF', 'score': 18.04}, {'connected_gene': 'DPP9', 'score': 12.28}, {'connected_gene': 'TNFAIP8L1', 'score': 5.75}, {'connected_gene': 'PIR47904', 'score': 0.44}]
chr19 GH19I004660 4660529 4660658 0.72 [{'connected_gene': 'GC19P004660', 'score': 550.77}, {'connected_gene': 'GC19P004657', 'score': 0.77}, {'connected_gene': 'MYDGF', 'score': 0.44}, {'connected_gene': 'GC19M004658', 'score': 0.34}]
chr19 GH19I004638 4638184 4641614 2.03 [{'connected_gene': 'GC19P004640', 'score': 550.77}, {'connected_gene': 'TNFAIP8L1', 'score': 550.77}, {'connected_gene': 'GC19M004643', 'score': 0.44}, {'connected_gene': 'MYDGF', 'score': 0.29}]
chr19 GH19I004678 4678597 4679662 0.66 [{'connected_gene': 'GC19P004682', 'score': 550.77}, {'connected_gene': 'DPP9-AS1', 'score': 550.77}, {'connected_gene': 'GC19M004658', 'score': 0.44}, {'connected_gene': 'MYDGF', 'score': 0.44}, {'connected_gene': 'DPP9', 'score': 0.25}]