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
ENST00000313135 [[80332152, 80333462]] [[80332200, 80333370]]
NM_018949 [[80332152, 80333462]] [[80332200, 80333370]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I082313 82313689 82318415 1.72 [{'connected_gene': 'CD7', 'score': 550.77}, {'connected_gene': 'TEX19', 'score': 14.79}, {'connected_gene': 'CSNK1D', 'score': 5.37}, {'connected_gene': 'UTS2R', 'score': 5.14}, {'connected_gene': 'ENSG00000260563', 'score': 0.34}]
chr17 GH17I082635 82635554 82638042 1.24 [{'connected_gene': 'WDR45B', 'score': 14.07}, {'connected_gene': 'LOC105371942', 'score': 12.21}, {'connected_gene': 'FN3K', 'score': 11.44}, {'connected_gene': 'CSNK1D', 'score': 9.13}, {'connected_gene': 'LOC101929552', 'score': 5.13}, {'connected_gene': 'FN3KRP', 'score': 5.13}, {'connected_gene': 'RAB40B', 'score': 4.66}, {'connected_gene': 'UTS2R', 'score': 1.66}, {'connected_gene': 'GC17M082606', 'score': 0.44}, {'connected_gene': 'FOXK2', 'score': 0.13}]
chr17 GH17I082433 82433846 82434956 0.58 [{'connected_gene': 'NARF', 'score': 46.11}, {'connected_gene': 'TEX19', 'score': 11.62}, {'connected_gene': 'UTS2R', 'score': 11.59}, {'connected_gene': 'CSNK1D', 'score': 11.0}, {'connected_gene': 'HEXDC-IT1', 'score': 0.44}, {'connected_gene': 'C17orf62', 'score': 0.37}, {'connected_gene': 'HEXDC', 'score': 0.37}]
chr17 GH17I082343 82343727 82347325 1.47 [{'connected_gene': 'TEX19', 'score': 16.78}, {'connected_gene': 'TBCD', 'score': 15.62}, {'connected_gene': 'OGFOD3', 'score': 15.52}, {'connected_gene': 'ENSG00000263321', 'score': 12.46}, {'connected_gene': 'ENSG00000262663', 'score': 11.11}, {'connected_gene': 'RFNG', 'score': 10.89}, {'connected_gene': 'FAAP100', 'score': 10.79}, {'connected_gene': 'UTS2R', 'score': 10.06}, {'connected_gene': 'HEXDC', 'score': 10.0}, {'connected_gene': 'ENSG00000260011', 'score': 7.6}, {'connected_gene': 'DCXR', 'score': 5.92}, {'connected_gene': 'SECTM1', 'score': 0.39}, {'connected_gene': 'GC17M082347', 'score': 0.37}]
chr17 GH17I082370 82370372 82373151 0.86 [{'connected_gene': 'TEX19', 'score': 15.49}, {'connected_gene': 'UTS2R', 'score': 11.63}, {'connected_gene': 'GC17M082347', 'score': 0.44}]
chr17 GH17I082417 82417785 82420453 1.99 [{'connected_gene': 'HEXDC', 'score': 583.11}, {'connected_gene': 'OGFOD3', 'score': 564.17}, {'connected_gene': 'ENSG00000201239', 'score': 550.77}, {'connected_gene': 'C17orf62', 'score': 12.18}, {'connected_gene': 'FOXK2', 'score': 12.14}, {'connected_gene': 'TEX19', 'score': 11.81}, {'connected_gene': 'UTS2R', 'score': 11.65}, {'connected_gene': 'NARF', 'score': 11.62}, {'connected_gene': 'SECTM1', 'score': 11.42}, {'connected_gene': 'ENSG00000262663', 'score': 10.74}, {'connected_gene': 'CSNK1D', 'score': 10.68}, {'connected_gene': 'TBCD', 'score': 9.88}, {'connected_gene': 'ALYREF', 'score': 9.73}, {'connected_gene': 'HEXDC-IT1', 'score': 0.44}]
chr17 GH17I082414 82414113 82415315 1.19 [{'connected_gene': 'UTS2R', 'score': 34.9}, {'connected_gene': 'TEX19', 'score': 11.99}, {'connected_gene': 'SECTM1', 'score': 11.74}, {'connected_gene': 'NARF', 'score': 11.12}, {'connected_gene': 'CSNK1D', 'score': 10.96}, {'connected_gene': 'OGFOD3', 'score': 0.77}, {'connected_gene': 'ENSG00000201239', 'score': 0.77}, {'connected_gene': 'PIR41898', 'score': 0.44}]
chr17 GH17I082291 82291296 82305970 2.38 [{'connected_gene': 'CSNK1D', 'score': 59.13}, {'connected_gene': 'HGS', 'score': 39.46}, {'connected_gene': 'ENSG00000260563', 'score': 38.5}, {'connected_gene': 'NARF-IT1', 'score': 35.54}, {'connected_gene': 'ALYREF', 'score': 32.23}, {'connected_gene': 'FAAP100', 'score': 26.97}, {'connected_gene': 'TEX19', 'score': 25.52}, {'connected_gene': 'ENSG00000262652', 'score': 25.14}, {'connected_gene': 'ARL2BPP9', 'score': 23.79}, {'connected_gene': 'DUS1L', 'score': 23.67}, {'connected_gene': 'SLC16A3', 'score': 21.78}, {'connected_gene': 'ENSG00000265678', 'score': 21.0}, {'connected_gene': 'TBCD', 'score': 19.44}, {'connected_gene': 'SECTM1', 'score': 16.4}, {'connected_gene': 'CCDC57', 'score': 14.52}, {'connected_gene': 'CD7', 'score': 13.17}, {'connected_gene': 'C17orf62', 'score': 13.12}, {'connected_gene': 'ACTG1', 'score': 12.87}, {'connected_gene': 'HEXDC', 'score': 12.21}, {'connected_gene': 'OGFOD3', 'score': 11.68}, {'connected_gene': 'ARHGDIA', 'score': 11.06}, {'connected_gene': 'LOC105371942', 'score': 10.86}, {'connected_gene': 'RFNG', 'score': 9.94}, {'connected_gene': 'FOXK2', 'score': 9.91}, {'connected_gene': 'CCDC137', 'score': 9.8}, {'connected_gene': 'UTS2R', 'score': 4.97}, {'connected_gene': 'SIRT7', 'score': 3.72}, {'connected_gene': 'NARF', 'score': 3.13}, {'connected_gene': 'MAFG', 'score': 1.48}, {'connected_gene': 'LINC01970', 'score': 0.44}]
chr17 GH17I082477 82477585 82478554 0.43 [{'connected_gene': 'NARF-AS1', 'score': 550.77}, {'connected_gene': 'C17orf62', 'score': 12.17}, {'connected_gene': 'UTS2R', 'score': 11.01}, {'connected_gene': 'TEX19', 'score': 10.99}, {'connected_gene': 'SECTM1', 'score': 10.67}, {'connected_gene': 'CSNK1D', 'score': 10.42}, {'connected_gene': 'NARF-IT1', 'score': 0.77}, {'connected_gene': 'NARF', 'score': 0.37}]
chr17 GH17I082396 82396110 82398382 0.7 [{'connected_gene': 'LOC102723806', 'score': 550.77}, {'connected_gene': 'OGFOD3', 'score': 14.54}, {'connected_gene': 'ENSG00000263321', 'score': 12.03}, {'connected_gene': 'UTS2R', 'score': 7.59}, {'connected_gene': 'DCXR', 'score': 6.54}, {'connected_gene': 'NARF', 'score': 5.4}, {'connected_gene': 'GC17M082397', 'score': 0.77}]
chr17 GH17I082367 82367423 82368728 0.98 [{'connected_gene': 'ALYREF', 'score': 18.61}, {'connected_gene': 'TEX19', 'score': 15.48}, {'connected_gene': 'HGS', 'score': 13.72}, {'connected_gene': 'ACTG1', 'score': 12.87}, {'connected_gene': 'FOXK2', 'score': 12.1}, {'connected_gene': 'ARHGDIA', 'score': 11.06}, {'connected_gene': 'ENSG00000260563', 'score': 10.83}, {'connected_gene': 'CSNK1D', 'score': 10.76}, {'connected_gene': 'NARF-IT1', 'score': 10.43}, {'connected_gene': 'ENSG00000260011', 'score': 8.63}, {'connected_gene': 'GC17M082347', 'score': 0.77}, {'connected_gene': 'UTS2R', 'score': 0.44}]
chr17 GH17I082424 82424665 82424814 0.59 [{'connected_gene': 'HEXDC-IT1', 'score': 550.77}, {'connected_gene': 'C17orf62', 'score': 12.19}, {'connected_gene': 'TEX19', 'score': 11.8}, {'connected_gene': 'NARF', 'score': 11.63}, {'connected_gene': 'UTS2R', 'score': 11.62}, {'connected_gene': 'SECTM1', 'score': 11.41}, {'connected_gene': 'CSNK1D', 'score': 10.67}, {'connected_gene': 'OGFOD3', 'score': 0.44}, {'connected_gene': 'HEXDC', 'score': 0.44}]
chr17 GH17I082383 82383617 82386599 0.87 [{'connected_gene': 'GC17P082386', 'score': 550.77}, {'connected_gene': 'OGFOD3', 'score': 18.97}, {'connected_gene': 'UTS2R', 'score': 11.02}, {'connected_gene': 'NARF', 'score': 5.96}, {'connected_gene': 'ENSG00000260011', 'score': 5.0}, {'connected_gene': 'HEXDC', 'score': 4.69}]
chr17 GH17I082381 82381075 82381811 0.8 [{'connected_gene': 'ENSG00000260011', 'score': 550.77}, {'connected_gene': 'ENSG00000263321', 'score': 12.03}, {'connected_gene': 'OGFOD3', 'score': 6.18}, {'connected_gene': 'UTS2R', 'score': 0.44}]
chr17 GH17I082398 82398676 82401400 0.92 [{'connected_gene': 'GC17M082397', 'score': 550.77}, {'connected_gene': 'ENSG00000264812', 'score': 550.77}, {'connected_gene': 'UTS2R', 'score': 19.21}, {'connected_gene': 'SECTM1', 'score': 18.05}, {'connected_gene': 'OGFOD3', 'score': 14.6}, {'connected_gene': 'TEX19', 'score': 12.37}, {'connected_gene': 'CSNK1D', 'score': 11.11}, {'connected_gene': 'C17orf62', 'score': 11.0}, {'connected_gene': 'WDR45B', 'score': 9.9}, {'connected_gene': 'HEXDC', 'score': 6.51}, {'connected_gene': 'LOC102723806', 'score': 0.77}]
chr17 GH17I082407 82407220 82409041 0.54 [{'connected_gene': 'PIR41898', 'score': 550.77}, {'connected_gene': 'UTS2R', 'score': 12.56}, {'connected_gene': 'TEX19', 'score': 12.13}, {'connected_gene': 'SECTM1', 'score': 11.94}, {'connected_gene': 'C17orf62', 'score': 11.36}, {'connected_gene': 'CSNK1D', 'score': 10.73}, {'connected_gene': 'DCXR', 'score': 4.35}, {'connected_gene': 'ENSG00000264812', 'score': 0.44}, {'connected_gene': 'OGFOD3', 'score': 0.39}]
chr17 GH17I082492 82492488 82498497 1.88 [{'connected_gene': 'PIR58219', 'score': 550.77}, {'connected_gene': 'GC17M082508', 'score': 550.77}, {'connected_gene': 'TRX-CAT1-8', 'score': 550.77}, {'connected_gene': 'TBCD', 'score': 64.42}, {'connected_gene': 'NARF', 'score': 44.57}, {'connected_gene': 'ENSG00000260563', 'score': 44.11}, {'connected_gene': 'GPS1', 'score': 40.74}, {'connected_gene': 'NARF-IT1', 'score': 38.7}, {'connected_gene': 'ENSG00000262652', 'score': 32.27}, {'connected_gene': 'FOXK2', 'score': 32.25}, {'connected_gene': 'ARL2BPP9', 'score': 30.59}, {'connected_gene': 'HEXDC', 'score': 29.09}, {'connected_gene': 'RFNG', 'score': 27.92}, {'connected_gene': 'OGFOD3', 'score': 27.13}, {'connected_gene': 'SECTM1', 'score': 26.94}, {'connected_gene': 'ALYREF', 'score': 24.95}, {'connected_gene': 'FAAP100', 'score': 23.78}, {'connected_gene': 'CSNK1D', 'score': 22.63}, {'connected_gene': 'ENSG00000263321', 'score': 22.08}, {'connected_gene': 'HGS', 'score': 21.82}, {'connected_gene': 'ENSG00000263731', 'score': 20.88}, {'connected_gene': 'ENSG00000262663', 'score': 20.61}, {'connected_gene': 'ENSG00000262410', 'score': 19.99}, {'connected_gene': 'WDR45B', 'score': 19.38}, {'connected_gene': 'ENSG00000260011', 'score': 14.79}, {'connected_gene': 'ENSG00000265678', 'score': 12.61}, {'connected_gene': 'ARL16', 'score': 12.1}, {'connected_gene': 'FN3KRP', 'score': 11.98}, {'connected_gene': 'TSPAN10', 'score': 11.42}, {'connected_gene': 'ASPSCR1', 'score': 11.08}, {'connected_gene': 'DUS1L', 'score': 10.72}, {'connected_gene': 'LINC01970', 'score': 10.39}, {'connected_gene': 'MAFG-AS1', 'score': 10.32}, {'connected_gene': 'CCDC57', 'score': 10.12}, {'connected_gene': 'LOC105371942', 'score': 9.86}, {'connected_gene': 'UTS2R', 'score': 1.34}, {'connected_gene': 'LRRC45', 'score': 1.32}, {'connected_gene': 'FASN', 'score': 1.24}, {'connected_gene': 'GC17P082493', 'score': 0.77}]