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
ENST00000253451 [[8117650, 8117706], [8117883, 8118006], [8121035, 8121153], [8121249, 8121383], [8122687, 8122804], [8127101, 8127506]] [[8117933, 8118006], [8121035, 8121153], [8121249, 8121383], [8122687, 8122804], [8127101, 8127109]]
ENST00000390669 [[8117883, 8118006], [8121035, 8121153], [8121249, 8121383], [8122684, 8122804], [8127101, 8127530]] [[8117933, 8118006], [8121035, 8121153], [8121249, 8121383], [8122684, 8122804], [8127101, 8127109]]
ENST00000458625 [[8117933, 8118006], [8121035, 8121153], [8122684, 8122804], [8127101, 8127534]] [[8117933, 8118006], [8121035, 8121153], [8122684, 8122748]]
ENST00000315626 [[8117650, 8117706], [8117883, 8118006], [8121035, 8121153], [8122684, 8122748]] [[8117933, 8118006], [8121035, 8121153], [8122684, 8122748]]
NM_001201359 [[8117645, 8117706], [8117883, 8118006], [8121035, 8121153], [8121249, 8121383], [8122687, 8122804], [8127101, 8127547]] [[8117933, 8118006], [8121035, 8121153], [8121249, 8121383], [8122687, 8122804], [8127101, 8127109]]
NM_005624 [[8117645, 8117706], [8117883, 8118006], [8121035, 8121153], [8121249, 8121383], [8122684, 8122804], [8127101, 8127547]] [[8117933, 8118006], [8121035, 8121153], [8121249, 8121383], [8122684, 8122804], [8127101, 8127109]]
Promoter
Chrom Start End Description
chr19 8117200 8117216 CAGE_peak_3_at_CCL25_5end
chr19 8117219 8117240 CAGE_peak_2_at_CCL25_5end
chr19 8117636 8117653 CAGE_peak_1_at_CCL25_5end
chr19 8117881 8117919 CAGE_peak_5_at_CCL25_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I008050 8050001 8054897 1.87 [{'connected_gene': 'CCL25', 'score': 550.77}, {'connected_gene': 'RETN', 'score': 5.24}, {'connected_gene': 'MCEMP1', 'score': 4.67}, {'connected_gene': 'STXBP2', 'score': 2.58}, {'connected_gene': 'PRAM1', 'score': 1.5}, {'connected_gene': 'GC19M008058', 'score': 0.44}]
chr19 GH19I008040 8040896 8041308 0.56 [{'connected_gene': 'CCL25', 'score': 0.39}, {'connected_gene': 'LOC105372266', 'score': 0.29}]
chr19 GH19I008032 8032207 8037883 1.19 [{'connected_gene': 'HNRNPM', 'score': 28.68}, {'connected_gene': 'ZNF558', 'score': 24.69}, {'connected_gene': 'XAB2', 'score': 23.43}, {'connected_gene': 'ZNF557', 'score': 22.55}, {'connected_gene': 'ELAVL1', 'score': 21.03}, {'connected_gene': 'MAP2K7', 'score': 11.61}, {'connected_gene': 'TIMM44', 'score': 11.09}, {'connected_gene': 'ZNF414', 'score': 10.74}, {'connected_gene': 'ENSG00000269139', 'score': 9.09}, {'connected_gene': 'CCL25', 'score': 8.56}, {'connected_gene': 'LOC105372266', 'score': 6.42}, {'connected_gene': 'SNAPC2', 'score': 5.31}]
chr19 GH19I008003 8003682 8006991 2.03 [{'connected_gene': 'ELAVL1', 'score': 563.4}, {'connected_gene': 'GC19P008006', 'score': 550.77}, {'connected_gene': 'ZNF557', 'score': 12.97}, {'connected_gene': 'XAB2', 'score': 11.94}, {'connected_gene': 'HNRNPM', 'score': 10.63}, {'connected_gene': 'ZNF414', 'score': 10.02}, {'connected_gene': 'LOC105372266', 'score': 8.75}, {'connected_gene': 'CCL25', 'score': 7.85}, {'connected_gene': 'GC19M008006', 'score': 0.77}, {'connected_gene': 'GC19P007992', 'score': 0.39}]
chr19 GH19I008028 8028086 8030467 0.74 [{'connected_gene': 'ELAVL1', 'score': 12.36}, {'connected_gene': 'TIMM44', 'score': 11.44}, {'connected_gene': 'CCL25', 'score': 8.5}, {'connected_gene': 'LOC105372266', 'score': 0.34}]
chr19 GH19I008017 8017937 8018086 0.69 [{'connected_gene': 'LOC105372266', 'score': 0.44}, {'connected_gene': 'CCL25', 'score': 0.29}]
chr19 GH19I008024 8024949 8026245 0.43 [{'connected_gene': 'TIMM44', 'score': 11.81}, {'connected_gene': 'CCL25', 'score': 8.47}, {'connected_gene': 'LOC105372266', 'score': 6.41}]
chr19 GH19I007977 7977281 7981321 0.66 [{'connected_gene': 'PIR52412', 'score': 550.77}, {'connected_gene': 'TIMM44', 'score': 15.47}, {'connected_gene': 'ZNF414', 'score': 10.02}, {'connected_gene': 'LOC105372266', 'score': 8.15}, {'connected_gene': 'CCL25', 'score': 7.79}, {'connected_gene': 'ENSG00000269139', 'score': 5.94}, {'connected_gene': 'ENSG00000269813', 'score': 0.34}, {'connected_gene': 'ELAVL1', 'score': 0.31}]