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
ENST00000290953 [[67516473, 67516721], [67516927, 67517013], [67517171, 67517304], [67517419, 67517716]] [[67516538, 67516721], [67516927, 67517013], [67517171, 67517301]]
NM_001138 [[67516473, 67516721], [67516927, 67517013], [67517171, 67517304], [67517419, 67517716]] [[67516538, 67516721], [67516927, 67517013], [67517171, 67517301]]
Promoter
Chrom Start End Description
chr16 67517444 67517455 CAGE_peak_1_at_AGRP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I067486 67486422 67492635 1.3 [{'connected_gene': 'ATP6V0D1', 'score': 19.97}, {'connected_gene': 'RIPOR1', 'score': 12.13}, {'connected_gene': 'LRRC36', 'score': 11.73}, {'connected_gene': 'DUS2', 'score': 11.07}, {'connected_gene': 'CARMIL2', 'score': 10.98}, {'connected_gene': 'ZDHHC1', 'score': 10.81}, {'connected_gene': 'HSD11B2', 'score': 10.57}, {'connected_gene': 'ENSG00000237718', 'score': 10.43}, {'connected_gene': 'PARD6A', 'score': 10.38}, {'connected_gene': 'ACD', 'score': 10.38}, {'connected_gene': 'PRMT7', 'score': 5.42}, {'connected_gene': 'LOC101927837', 'score': 0.44}, {'connected_gene': 'AGRP', 'score': 0.44}, {'connected_gene': 'GC16M067502', 'score': 0.39}]
chr16 GH16I067506 67506438 67508104 1.05 [{'connected_gene': 'ATP6V0D1', 'score': 15.56}, {'connected_gene': 'LRRC36', 'score': 12.52}, {'connected_gene': 'AGRP', 'score': 11.61}, {'connected_gene': 'PARD6A', 'score': 10.79}, {'connected_gene': 'ACD', 'score': 10.79}, {'connected_gene': 'CARMIL2', 'score': 10.7}, {'connected_gene': 'HSD11B2', 'score': 10.59}, {'connected_gene': 'ENSG00000237718', 'score': 10.46}, {'connected_gene': 'ZDHHC1', 'score': 10.17}, {'connected_gene': 'DPEP2', 'score': 8.01}, {'connected_gene': 'GC16M067502', 'score': 0.77}, {'connected_gene': 'RIPOR1', 'score': 0.39}]
chr16 GH16I067479 67479572 67484532 2.56 [{'connected_gene': 'ATP6V0D1', 'score': 577.25}, {'connected_gene': 'LOC101927837', 'score': 550.77}, {'connected_gene': 'AGRP', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 38.46}, {'connected_gene': 'ENKD1', 'score': 31.93}, {'connected_gene': 'NAE1', 'score': 28.3}, {'connected_gene': 'EDC4', 'score': 24.27}, {'connected_gene': 'CENPT', 'score': 23.87}, {'connected_gene': 'CTCF', 'score': 21.56}, {'connected_gene': 'SLC7A6OS', 'score': 18.46}, {'connected_gene': 'E2F4', 'score': 17.02}, {'connected_gene': 'ENSG00000260465', 'score': 15.27}, {'connected_gene': 'RIPOR1', 'score': 13.75}, {'connected_gene': 'ENSG00000263276', 'score': 11.83}, {'connected_gene': 'ACD', 'score': 11.51}, {'connected_gene': 'CARMIL2', 'score': 10.97}, {'connected_gene': 'PLEKHG4', 'score': 10.97}, {'connected_gene': 'C16orf86', 'score': 10.79}, {'connected_gene': 'HSD11B2', 'score': 10.47}, {'connected_gene': 'PARD6A', 'score': 10.38}, {'connected_gene': 'ENSG00000260891', 'score': 10.2}, {'connected_gene': 'FBXL8', 'score': 9.91}, {'connected_gene': 'LCAT', 'score': 9.81}, {'connected_gene': 'LRRC36', 'score': 9.58}, {'connected_gene': 'RANBP10', 'score': 9.23}, {'connected_gene': 'PSMB10', 'score': 4.4}, {'connected_gene': 'C16orf70', 'score': 3.57}, {'connected_gene': 'LRRC29', 'score': 1.57}]
chr16 GH16I067494 67494098 67494247 0.69 [{'connected_gene': 'RIPOR1', 'score': 12.16}, {'connected_gene': 'CARMIL2', 'score': 10.7}, {'connected_gene': 'HSD11B2', 'score': 10.56}, {'connected_gene': 'ENSG00000237718', 'score': 10.43}, {'connected_gene': 'PARD6A', 'score': 10.32}, {'connected_gene': 'ACD', 'score': 10.32}, {'connected_gene': 'ZDHHC1', 'score': 9.88}, {'connected_gene': 'GC16M067502', 'score': 0.44}, {'connected_gene': 'LOC101927837', 'score': 0.39}, {'connected_gene': 'AGRP', 'score': 0.39}]
chr16 GH16I067444 67444650 67453164 1.07 [{'connected_gene': 'GC16M067447', 'score': 550.77}, {'connected_gene': 'ATP6V0D1', 'score': 32.08}, {'connected_gene': 'ZDHHC1', 'score': 11.67}, {'connected_gene': 'AGRP', 'score': 11.24}, {'connected_gene': 'RIPOR1', 'score': 10.41}, {'connected_gene': 'E2F4', 'score': 10.34}, {'connected_gene': 'EXOC3L1', 'score': 10.34}, {'connected_gene': 'KIAA0895L', 'score': 10.34}, {'connected_gene': 'TMEM208', 'score': 9.9}, {'connected_gene': 'LRRC29', 'score': 9.9}, {'connected_gene': 'PARD6A', 'score': 9.83}, {'connected_gene': 'ACD', 'score': 9.83}, {'connected_gene': 'LRRC36', 'score': 9.65}, {'connected_gene': 'ENSG00000237718', 'score': 9.58}, {'connected_gene': 'CARMIL2', 'score': 9.56}, {'connected_gene': 'RANBP10', 'score': 9.23}, {'connected_gene': 'PLA2G15', 'score': 5.67}, {'connected_gene': 'PRMT7', 'score': 5.42}, {'connected_gene': 'GC16M067470', 'score': 0.34}]
chr16 GH16I067503 67503214 67505904 1.33 [{'connected_gene': 'GC16M067502', 'score': 550.77}, {'connected_gene': 'ZDHHC1', 'score': 27.6}, {'connected_gene': 'HSD11B2', 'score': 25.74}, {'connected_gene': 'ATP6V0D1', 'score': 23.9}, {'connected_gene': 'ENSG00000260465', 'score': 15.27}, {'connected_gene': 'CTCF', 'score': 12.41}, {'connected_gene': 'ENKD1', 'score': 11.97}, {'connected_gene': 'AGRP', 'score': 11.61}, {'connected_gene': 'CENPT', 'score': 11.23}, {'connected_gene': 'CARMIL2', 'score': 11.06}, {'connected_gene': 'NAE1', 'score': 10.98}, {'connected_gene': 'PARD6A', 'score': 10.81}, {'connected_gene': 'ACD', 'score': 10.81}, {'connected_gene': 'ENSG00000237718', 'score': 10.45}, {'connected_gene': 'EDC4', 'score': 10.39}, {'connected_gene': 'SLC7A6OS', 'score': 10.09}, {'connected_gene': 'FBXL8', 'score': 9.91}, {'connected_gene': 'LCAT', 'score': 9.81}, {'connected_gene': 'LRRC36', 'score': 9.59}, {'connected_gene': 'DPEP2', 'score': 8.01}, {'connected_gene': 'RIPOR1', 'score': 0.39}, {'connected_gene': 'LOC101927837', 'score': 0.34}]