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
ENST00000370355 [[102106880, 102107288], [102107820, 102108103], [102112122, 102112253], [102114183, 102114389], [102116288, 102116521], [102120490, 102124591]] [[102107261, 102107288], [102107820, 102108103], [102112122, 102112253], [102114183, 102114389], [102116288, 102116521], [102120490, 102120690]]
NM_005063 [[102106771, 102107288], [102107820, 102108103], [102112122, 102112253], [102114183, 102114389], [102116288, 102116521], [102120490, 102124588]] [[102107261, 102107288], [102107820, 102108103], [102112122, 102112253], [102114183, 102114389], [102116288, 102116521], [102120490, 102120690]]
Promoter
Chrom Start End Description
chr10 102106235 102106274 CAGE_peak_14_at_SCD_5end
chr10 102106384 102106429 CAGE_peak_15_at_SCD_5end
chr10 102106829 102106869 CAGE_peak_2_at_SCD_5end
chr10 102106933 102106948 CAGE_peak_4_at_SCD_5end
chr10 102106957 102106970 CAGE_peak_5_at_SCD_5end
chr10 102106982 102107015 CAGE_peak_1_at_SCD_5end
chr10 102107016 102107024 CAGE_peak_10_at_SCD_5end
chr10 102107051 102107062 CAGE_peak_12_at_SCD_5end
chr10 102107065 102107089 CAGE_peak_6_at_SCD_5end
chr10 102107103 102107119 CAGE_peak_3_at_SCD_5end
chr10 102107148 102107161 CAGE_peak_9_at_SCD_5end
chr10 102107168 102107180 CAGE_peak_11_at_SCD_5end
chr10 102107191 102107209 CAGE_peak_7_at_SCD_5end
chr10 102107745 102107756 CAGE_peak_19_at_SCD_5end
chr10 102107808 102107865 CAGE_peak_8_at_SCD_5end
chr10 102107884 102107910 CAGE_peak_13_at_SCD_5end
chr10 102107942 102107961 CAGE_peak_16_at_SCD_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I100358 100358704 100360775 1.18 [{'connected_gene': 'PKD2L1', 'score': 9.03}, {'connected_gene': 'OLMALINC', 'score': 0.39}, {'connected_gene': 'SCD', 'score': 0.39}]
chr10 GH10I100356 100356419 100358218 0.74 [{'connected_gene': 'PKD2L1', 'score': 19.32}, {'connected_gene': 'SCD', 'score': 0.39}, {'connected_gene': 'OLMALINC', 'score': 0.37}]
chr10 GH10I100345 100345453 100351573 2.26 [{'connected_gene': 'PKD2L1', 'score': 573.79}, {'connected_gene': 'SCD', 'score': 550.77}, {'connected_gene': 'SEC31B', 'score': 13.5}, {'connected_gene': 'LOC101927300', 'score': 4.68}, {'connected_gene': 'ENSG00000231188', 'score': 0.77}, {'connected_gene': 'OLMALINC', 'score': 0.31}]
chr10 GH10I100361 100361123 100366332 1.33 [{'connected_gene': 'PKD2L1', 'score': 6.13}, {'connected_gene': 'SEC31B', 'score': 5.79}, {'connected_gene': 'OLMALINC', 'score': 5.04}, {'connected_gene': 'SCD', 'score': 0.37}]
chr10 GH10I100369 100369042 100375845 2.14 [{'connected_gene': 'OLMALINC', 'score': 550.77}, {'connected_gene': 'PHBP9', 'score': 24.82}, {'connected_gene': 'SEC31B', 'score': 21.93}, {'connected_gene': 'EBAG9P1', 'score': 19.65}, {'connected_gene': 'LOC101927300', 'score': 13.51}, {'connected_gene': 'SCD', 'score': 12.9}, {'connected_gene': 'ENSG00000231188', 'score': 12.9}, {'connected_gene': 'CHUK', 'score': 12.04}, {'connected_gene': 'ENSG00000272572', 'score': 11.31}, {'connected_gene': 'NDUFB8', 'score': 10.5}, {'connected_gene': 'HIF1AN', 'score': 10.5}, {'connected_gene': 'ENSG00000255339', 'score': 10.5}, {'connected_gene': 'LZTS2', 'score': 9.8}, {'connected_gene': 'PDZD7', 'score': 9.67}, {'connected_gene': 'PKD2L1', 'score': 5.7}, {'connected_gene': 'CWF19L1', 'score': 1.52}]
chr10 GH10I100495 100495980 100496598 0.2 [{'connected_gene': 'WNT8B', 'score': 11.4}, {'connected_gene': 'ENSG00000231188', 'score': 11.29}, {'connected_gene': 'SCD', 'score': 11.29}, {'connected_gene': 'SEC31B', 'score': 11.18}, {'connected_gene': 'NDUFB8', 'score': 11.13}, {'connected_gene': 'HIF1AN', 'score': 11.13}, {'connected_gene': 'ENSG00000255339', 'score': 11.13}, {'connected_gene': 'GC10M100500', 'score': 0.77}, {'connected_gene': 'LOC105378452', 'score': 0.37}]
chr10 GH10I100497 100497004 100498114 0.2 [{'connected_gene': 'WNT8B', 'score': 11.4}, {'connected_gene': 'ENSG00000231188', 'score': 11.28}, {'connected_gene': 'SCD', 'score': 11.28}, {'connected_gene': 'SEC31B', 'score': 11.18}, {'connected_gene': 'NDUFB8', 'score': 11.13}, {'connected_gene': 'HIF1AN', 'score': 11.13}, {'connected_gene': 'ENSG00000255339', 'score': 11.13}, {'connected_gene': 'GC10M100500', 'score': 0.77}, {'connected_gene': 'LOC105378452', 'score': 0.37}]
chr10 GH10I100786 100786833 100788338 0.8 [{'connected_gene': 'SCD', 'score': 4.86}, {'connected_gene': 'PAX2', 'score': 0.23}, {'connected_gene': 'GC10M100747', 'score': 0.18}]
chr10 GH10I100376 100376201 100376600 0.66 [{'connected_gene': 'SCD', 'score': 12.25}, {'connected_gene': 'ENSG00000231188', 'score': 12.24}, {'connected_gene': 'SEC31B', 'score': 10.02}, {'connected_gene': 'NDUFB8', 'score': 10.02}, {'connected_gene': 'HIF1AN', 'score': 10.02}, {'connected_gene': 'ENSG00000255339', 'score': 10.02}, {'connected_gene': 'PIR60373', 'score': 0.77}, {'connected_gene': 'OLMALINC', 'score': 0.77}]
chr10 GH10I100506 100506644 100506793 0.69 [{'connected_gene': 'SCD', 'score': 11.29}, {'connected_gene': 'ENSG00000231188', 'score': 11.28}, {'connected_gene': 'GC10M100501', 'score': 0.44}, {'connected_gene': 'GC10M100502', 'score': 0.44}, {'connected_gene': 'SEC31B', 'score': 0.39}, {'connected_gene': 'ENSG00000255339', 'score': 0.34}]
chr10 GH10I100826 100826103 100829939 0.88 [{'connected_gene': 'PAX2', 'score': 11.03}, {'connected_gene': 'SCD', 'score': 4.91}, {'connected_gene': 'GC10M100747', 'score': 0.28}]
chr10 GH10I100310 100310904 100311770 0.56 [{'connected_gene': 'BLOC1S2', 'score': 12.12}, {'connected_gene': 'CWF19L1', 'score': 12.05}, {'connected_gene': 'ENSG00000231188', 'score': 11.36}, {'connected_gene': 'SCD', 'score': 11.36}, {'connected_gene': 'MRPL43', 'score': 4.19}, {'connected_gene': 'PKD2L1', 'score': 0.28}]
chr10 GH10I100307 100307736 100308064 0.89 [{'connected_gene': 'BLOC1S2', 'score': 21.85}, {'connected_gene': 'CWF19L1', 'score': 12.05}, {'connected_gene': 'ENSG00000231188', 'score': 11.36}, {'connected_gene': 'SCD', 'score': 11.36}, {'connected_gene': 'MRPL43', 'score': 4.61}, {'connected_gene': 'ERLIN1', 'score': 1.81}, {'connected_gene': 'DNMBP', 'score': 1.23}, {'connected_gene': 'PKD2L1', 'score': 0.28}]
chr10 GH10I100424 100424883 100425693 0.52 [{'connected_gene': 'SEC31B', 'score': 44.74}, {'connected_gene': 'ENSG00000231188', 'score': 12.31}, {'connected_gene': 'SCD', 'score': 12.31}, {'connected_gene': 'ENSG00000212325', 'score': 0.31}, {'connected_gene': 'WNT8B', 'score': 0.28}, {'connected_gene': 'OLMALINC', 'score': 0.23}]
chr10 GH10I100434 100433864 100434053 0.96 [{'connected_gene': 'SEC31B', 'score': 54.37}, {'connected_gene': 'ENSG00000231188', 'score': 12.24}, {'connected_gene': 'SCD', 'score': 12.24}, {'connected_gene': 'WNT8B', 'score': 11.65}, {'connected_gene': 'NDUFB8', 'score': 10.42}, {'connected_gene': 'HIF1AN', 'score': 10.42}, {'connected_gene': 'ENSG00000255339', 'score': 10.42}, {'connected_gene': 'ENSG00000212325', 'score': 0.28}, {'connected_gene': 'OLMALINC', 'score': 0.21}]
chr10 GH10I100507 100507534 100511621 1.1 [{'connected_gene': 'SEC31B', 'score': 51.16}, {'connected_gene': 'ENSG00000231188', 'score': 11.28}, {'connected_gene': 'SCD', 'score': 11.28}, {'connected_gene': 'GC10M100501', 'score': 0.44}, {'connected_gene': 'GC10M100502', 'score': 0.44}, {'connected_gene': 'ENSG00000255339', 'score': 0.34}]
chr10 GH10I100433 100433601 100433801 0.92 [{'connected_gene': 'ENSG00000231188', 'score': 12.24}, {'connected_gene': 'SCD', 'score': 12.24}, {'connected_gene': 'WNT8B', 'score': 11.65}, {'connected_gene': 'SEC31B', 'score': 10.43}, {'connected_gene': 'NDUFB8', 'score': 10.42}, {'connected_gene': 'HIF1AN', 'score': 10.42}, {'connected_gene': 'ENSG00000255339', 'score': 10.42}, {'connected_gene': 'ENSG00000212325', 'score': 0.28}, {'connected_gene': 'OLMALINC', 'score': 0.21}]
chr10 GH10I100503 100503923 100504613 0.31 [{'connected_gene': 'ENSG00000231188', 'score': 11.29}, {'connected_gene': 'SCD', 'score': 11.29}, {'connected_gene': 'HIF1AN', 'score': 6.74}, {'connected_gene': 'GC10M100501', 'score': 0.77}, {'connected_gene': 'GC10M100502', 'score': 0.77}, {'connected_gene': 'SEC31B', 'score': 0.37}]
chr10 GH10I100378 100378004 100378153 0.79 [{'connected_gene': 'PIR60373', 'score': 550.77}, {'connected_gene': 'SEC31B', 'score': 14.31}, {'connected_gene': 'ENSG00000231188', 'score': 12.24}, {'connected_gene': 'SCD', 'score': 12.24}, {'connected_gene': 'NDUFB8', 'score': 10.02}, {'connected_gene': 'HIF1AN', 'score': 10.02}, {'connected_gene': 'ENSG00000255339', 'score': 10.02}, {'connected_gene': 'OLMALINC', 'score': 0.77}]