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
ENST00000596002 [[8367010, 8367489], [8367660, 8367864], [8368738, 8368857], [8369914, 8370689], [8373032, 8373184]] [[8370585, 8370689], [8373032, 8373174]]
ENST00000537716 [[8367010, 8367489], [8367660, 8367864], [8368738, 8368972], [8373032, 8373234]] [[8367346, 8367489], [8367660, 8367864], [8368738, 8368972], [8373032, 8373174]]
ENST00000301458 [[8367010, 8367489], [8367660, 8367864], [8368738, 8368972], [8369914, 8370040], [8373032, 8373239]] [[8367346, 8367489], [8367660, 8367864], [8368738, 8368972], [8369914, 8370040], [8373032, 8373174]]
ENST00000599573 [[8367200, 8367489], [8367660, 8367864], [8368738, 8368857], [8369914, 8370040], [8373032, 8373155]] [[8368840, 8368857], [8369914, 8370040], [8373032, 8373155]]
ENST00000598299 [[8369650, 8370040], [8373032, 8373219]] None
ENST00000596246 [[8370518, 8370802], [8373032, 8373240]] None
NM_016579 [[8367010, 8367489], [8367660, 8367864], [8368738, 8368972], [8369914, 8370040], [8373032, 8373240]] [[8367346, 8367489], [8367660, 8367864], [8368738, 8368972], [8369914, 8370040], [8373032, 8373174]]
NM_001165895 [[8367010, 8367489], [8367660, 8367864], [8368738, 8368972], [8373032, 8373240]] [[8367346, 8367489], [8367660, 8367864], [8368738, 8368972], [8373032, 8373174]]
Promoter
Chrom Start End Description
chr19 8373173 8373263 CAGE_peak_1_at_CD320_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I008314 8314358 8317726 0.54 [{'connected_gene': 'RPS28', 'score': 47.89}, {'connected_gene': 'CD320', 'score': 13.44}, {'connected_gene': 'ENSG00000167774', 'score': 0.44}, {'connected_gene': 'NDUFA7', 'score': 0.44}]
chr19 GH19I008311 8311780 8312268 0.56 [{'connected_gene': 'RPS28', 'score': 16.99}, {'connected_gene': 'CD320', 'score': 11.9}, {'connected_gene': 'ENSG00000167774', 'score': 0.44}, {'connected_gene': 'NDUFA7', 'score': 0.44}]
chr19 GH19I008294 8294001 8294600 0.2 [{'connected_gene': 'RPS28', 'score': 9.07}, {'connected_gene': 'GC19M008288', 'score': 0.77}, {'connected_gene': 'CD320', 'score': 0.39}]
chr19 GH19I008319 8319654 8323257 2.07 [{'connected_gene': 'RPS28', 'score': 694.49}, {'connected_gene': 'GC19P008321', 'score': 550.77}, {'connected_gene': 'ENSG00000167774', 'score': 550.77}, {'connected_gene': 'NDUFA7', 'score': 550.77}, {'connected_gene': 'HNRNPM', 'score': 59.51}, {'connected_gene': 'XAB2', 'score': 55.38}, {'connected_gene': 'ZNF317', 'score': 45.67}, {'connected_gene': 'ZNF699', 'score': 44.75}, {'connected_gene': 'ZNF558', 'score': 41.82}, {'connected_gene': 'MAP2K7', 'score': 30.86}, {'connected_gene': 'ELAVL1', 'score': 23.71}, {'connected_gene': 'ZNF414', 'score': 23.22}, {'connected_gene': 'CD320', 'score': 13.4}, {'connected_gene': 'STXBP2', 'score': 9.72}, {'connected_gene': 'KANK3', 'score': 0.34}]
chr19 GH19I007902 7902532 7905529 2.06 [{'connected_gene': 'MAP2K7', 'score': 561.5}, {'connected_gene': 'GC19M007902', 'score': 550.77}, {'connected_gene': 'ENSG00000214248', 'score': 550.77}, {'connected_gene': 'GC19M007901', 'score': 550.77}, {'connected_gene': 'ZNF558', 'score': 34.01}, {'connected_gene': 'HNRNPM', 'score': 30.76}, {'connected_gene': 'ELAVL1', 'score': 26.77}, {'connected_gene': 'XAB2', 'score': 21.17}, {'connected_gene': 'ZNF414', 'score': 11.9}, {'connected_gene': 'ENSG00000269300', 'score': 11.6}, {'connected_gene': 'ZNF557', 'score': 11.42}, {'connected_gene': 'CD209', 'score': 10.2}, {'connected_gene': 'LRRC8E', 'score': 8.92}, {'connected_gene': 'ENSG00000269139', 'score': 5.51}, {'connected_gene': 'PRR36', 'score': 5.14}, {'connected_gene': 'CD320', 'score': 4.71}, {'connected_gene': 'ENSG00000268149', 'score': 0.44}]
chr19 GH19I008306 8306161 8309444 2.06 [{'connected_gene': 'CD320', 'score': 563.78}, {'connected_gene': 'RPS28', 'score': 33.26}, {'connected_gene': 'ZNF558', 'score': 14.93}, {'connected_gene': 'ELAVL1', 'score': 14.53}, {'connected_gene': 'HNRNPM', 'score': 13.65}, {'connected_gene': 'XAB2', 'score': 12.55}, {'connected_gene': 'MAP2K7', 'score': 10.23}, {'connected_gene': 'ENSG00000269300', 'score': 10.23}, {'connected_gene': 'ZNF317', 'score': 9.84}, {'connected_gene': 'ENSG00000167774', 'score': 0.39}, {'connected_gene': 'NDUFA7', 'score': 0.39}, {'connected_gene': 'GC19M008288', 'score': 0.37}]
chr19 GH19I008304 8304897 8305106 0.6 [{'connected_gene': 'CD320', 'score': 11.9}, {'connected_gene': 'GC19M008288', 'score': 0.39}]
chr19 GH19I008340 8340311 8343926 2.11 [{'connected_gene': 'KANK3', 'score': 555.65}, {'connected_gene': 'RPS28', 'score': 71.67}, {'connected_gene': 'ELAVL1', 'score': 37.84}, {'connected_gene': 'HNRNPM', 'score': 33.99}, {'connected_gene': 'ZNF558', 'score': 24.9}, {'connected_gene': 'XAB2', 'score': 22.68}, {'connected_gene': 'ZNF699', 'score': 21.53}, {'connected_gene': 'ENSG00000269300', 'score': 10.24}, {'connected_gene': 'MAP2K7', 'score': 10.23}, {'connected_gene': 'ZNF317', 'score': 9.84}, {'connected_gene': 'CD320', 'score': 8.4}, {'connected_gene': 'PIR52170', 'score': 0.37}]
chr19 GH19I008296 8296800 8297201 0.2 [{'connected_gene': 'GC19M008288', 'score': 0.77}, {'connected_gene': 'CD320', 'score': 0.39}]

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