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
ENST00000446765 [[32092877, 32093561], [32094916, 32095021], [32108454, 32108531], [32117060, 32117203], [32142994, 32143106], [32145866, 32145979], [32157135, 32157204], [32168370, 32168452], [32248490, 32248543], [32248745, 32248826]] None
ENST00000452582 [[32236954, 32237121], [32248490, 32248543], [32248745, 32248877], [32254662, 32254805], [32264347, 32264395], [32264489, 32264561], [32264801, 32264823]] None
ENST00000414013 [[32236975, 32237121], [32248490, 32248543], [32254662, 32254805], [32264347, 32264395], [32264489, 32264561], [32264801, 32264862]] None
ENST00000430665 [[32246008, 32246168], [32248490, 32248543], [32254662, 32254805], [32264347, 32264395], [32264489, 32264561], [32264801, 32264849]] None
ENST00000422413 [[32246088, 32246168], [32248490, 32248543], [32248745, 32248877], [32254662, 32254805], [32264347, 32264395], [32264489, 32264561], [32264801, 32264874]] None
ENST00000342166 [[32248960, 32249325], [32254662, 32254805], [32264347, 32264395], [32264489, 32264561], [32264801, 32264881]] [[32249252, 32249325], [32254662, 32254805], [32264347, 32264395], [32264489, 32264525]]
ENST00000295066 [[32249170, 32249325], [32254662, 32254805], [32264347, 32264395], [32264489, 32264561], [32264661, 32264874]] [[32249252, 32249325], [32254662, 32254805], [32264347, 32264395], [32264489, 32264525]]
NM_001321210 [[32236717, 32237121], [32248490, 32248543], [32254662, 32254805], [32264347, 32264395], [32264489, 32264561], [32264801, 32264904]] [[32248539, 32248543], [32254662, 32254805], [32264347, 32264395], [32264489, 32264525]]
NM_032574 [[32248960, 32249325], [32254662, 32254805], [32264347, 32264395], [32264489, 32264561], [32264661, 32264904]] [[32249252, 32249325], [32254662, 32254805], [32264347, 32264395], [32264489, 32264525]]
NM_001321209 [[32248960, 32249325], [32254662, 32254805], [32264347, 32264395], [32264489, 32264561], [32264801, 32264904]] [[32249252, 32249325], [32254662, 32254805], [32264347, 32264395], [32264489, 32264525]]
NR_135585 [[32248960, 32249325], [32254662, 32254798], [32264347, 32264395], [32264489, 32264561], [32264801, 32264904]] None
NR_135587 [[32248960, 32249325], [32264347, 32264395], [32264489, 32264561], [32264801, 32264904]] None
Promoter
Chrom Start End Description
chr2 32264850 32264901 CAGE_peak_1_at_DPY30_5end,CAGE_peak_1_at_MEMO1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I031446 31446506 31447520 0.2 [{'connected_gene': 'DPY30', 'score': 7.44}, {'connected_gene': 'XDH', 'score': 6.22}, {'connected_gene': 'GC02P031438', 'score': 0.44}, {'connected_gene': 'ENSG00000228563', 'score': 0.18}]
chr2 GH02I031660 31660375 31661622 0.38 [{'connected_gene': 'DPY30', 'score': 5.38}, {'connected_gene': 'GC02M031658', 'score': 0.44}, {'connected_gene': 'GC02P031652', 'score': 0.44}, {'connected_gene': 'SRD5A2', 'score': 0.28}]
chr2 GH02I032038 32038743 32040924 2.03 [{'connected_gene': 'DPY30', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 32.11}, {'connected_gene': 'BIRC6', 'score': 12.53}, {'connected_gene': 'TTC27', 'score': 10.0}, {'connected_gene': 'NLRC4', 'score': 5.46}, {'connected_gene': 'ENSG00000271228', 'score': 0.31}]
chr2 GH02I031992 31992804 31993944 0.31 [{'connected_gene': 'DPY30', 'score': 10.89}, {'connected_gene': 'SLC30A6', 'score': 6.11}, {'connected_gene': 'MEMO1', 'score': 0.37}, {'connected_gene': 'GC02P031938', 'score': 0.23}]
chr2 GH02I032004 32004799 32006703 0.75 [{'connected_gene': 'DPY30', 'score': 10.92}, {'connected_gene': 'SLC30A6', 'score': 9.01}, {'connected_gene': 'MEMO1', 'score': 0.44}, {'connected_gene': 'GC02P031938', 'score': 0.2}]
chr2 GH02I031996 31996447 31998515 0.49 [{'connected_gene': 'DPY30', 'score': 10.91}, {'connected_gene': 'SLC30A6', 'score': 6.19}, {'connected_gene': 'MEMO1', 'score': 0.39}, {'connected_gene': 'GC02P031938', 'score': 0.22}]
chr2 GH02I032072 32072795 32075214 0.54 [{'connected_gene': 'DPY30', 'score': 12.0}, {'connected_gene': 'MEMO1', 'score': 10.93}, {'connected_gene': 'SLC30A6', 'score': 10.09}, {'connected_gene': 'ENSG00000272716', 'score': 6.29}, {'connected_gene': 'XDH', 'score': 4.4}, {'connected_gene': 'SPAST', 'score': 0.39}, {'connected_gene': 'GC02M032061', 'score': 0.26}]
chr2 GH02I032007 32007201 32007400 0.92 [{'connected_gene': 'DPY30', 'score': 10.92}, {'connected_gene': 'MEMO1', 'score': 0.77}, {'connected_gene': 'GC02P031938', 'score': 0.2}]
chr2 GH02I031998 31998607 31999718 0.49 [{'connected_gene': 'DPY30', 'score': 10.86}, {'connected_gene': 'MEMO1', 'score': 0.39}, {'connected_gene': 'GC02P031938', 'score': 0.21}]
chr2 GH02I031980 31980101 31981729 1.13 [{'connected_gene': 'XDH', 'score': 5.06}, {'connected_gene': 'MEMO1', 'score': 0.29}, {'connected_gene': 'GC02P031938', 'score': 0.26}, {'connected_gene': 'DPY30', 'score': 0.22}]
chr2 GH02I031983 31983556 31984691 0.52 [{'connected_gene': 'BIRC6', 'score': 19.83}, {'connected_gene': 'DDX50P1', 'score': 14.8}, {'connected_gene': 'TTC27', 'score': 11.13}, {'connected_gene': 'SLC30A6', 'score': 10.99}, {'connected_gene': 'MEMO1', 'score': 0.31}, {'connected_gene': 'GC02P031938', 'score': 0.25}, {'connected_gene': 'DPY30', 'score': 0.22}]
chr2 GH02I032135 32135012 32136694 0.88 [{'connected_gene': 'SLC30A6', 'score': 18.96}, {'connected_gene': 'RNU6-647P', 'score': 10.71}, {'connected_gene': 'DPY30', 'score': 10.66}, {'connected_gene': 'MEMO1', 'score': 9.99}, {'connected_gene': 'GC02P032156', 'score': 0.34}, {'connected_gene': 'GC02M032061', 'score': 0.34}, {'connected_gene': 'SPAST', 'score': 0.19}]
chr2 GH02I032133 32133200 32133401 0.38 [{'connected_gene': 'SLC30A6', 'score': 11.72}, {'connected_gene': 'RNU6-647P', 'score': 10.7}, {'connected_gene': 'DPY30', 'score': 10.66}, {'connected_gene': 'MEMO1', 'score': 9.99}, {'connected_gene': 'GC02M032061', 'score': 0.37}, {'connected_gene': 'GC02P032156', 'score': 0.34}, {'connected_gene': 'SPAST', 'score': 0.2}]
chr2 GH02I032627 32627014 32629001 2.02 [{'connected_gene': 'TTC27', 'score': 560.89}, {'connected_gene': 'BIRC6', 'score': 22.1}, {'connected_gene': 'DDX50P1', 'score': 14.62}, {'connected_gene': 'SLC30A6', 'score': 14.04}, {'connected_gene': 'DPY30', 'score': 4.59}, {'connected_gene': 'GC02M032591', 'score': 0.28}]
chr2 GH02I031956 31956401 31959171 0.78 [{'connected_gene': 'MEMO1', 'score': 11.23}, {'connected_gene': 'DPY30', 'score': 10.62}, {'connected_gene': 'SLC30A6', 'score': 8.58}, {'connected_gene': 'GC02P031938', 'score': 0.37}]
chr2 GH02I031960 31960001 31960200 0.4 [{'connected_gene': 'MEMO1', 'score': 11.23}, {'connected_gene': 'DPY30', 'score': 10.62}, {'connected_gene': 'SLC30A6', 'score': 4.24}, {'connected_gene': 'GC02P031938', 'score': 0.34}]
chr2 GH02I031988 31987552 31987701 0.83 [{'connected_gene': 'MEMO1', 'score': 11.89}, {'connected_gene': 'DPY30', 'score': 10.5}, {'connected_gene': 'SLC30A6', 'score': 10.06}, {'connected_gene': 'GC02P031938', 'score': 0.25}]
chr2 GH02I031963 31963001 31963200 0.79 [{'connected_gene': 'MEMO1', 'score': 11.19}, {'connected_gene': 'DPY30', 'score': 11.12}, {'connected_gene': 'SLC30A6', 'score': 5.79}, {'connected_gene': 'GC02P031938', 'score': 0.34}]
chr2 GH02I031877 31877132 31877281 0.65 [{'connected_gene': 'MEMO1', 'score': 10.79}, {'connected_gene': 'DPY30', 'score': 10.65}, {'connected_gene': 'GC02P031895', 'score': 0.37}, {'connected_gene': 'ENSG00000273165', 'score': 0.34}]
chr2 GH02I031945 31945601 31945800 0.96 [{'connected_gene': 'MEMO1', 'score': 10.87}, {'connected_gene': 'GC02P031938', 'score': 0.44}, {'connected_gene': 'DPY30', 'score': 0.16}]
chr2 GH02I031987 31987028 31987121 0.8 [{'connected_gene': 'MEMO1', 'score': 0.34}, {'connected_gene': 'GC02P031938', 'score': 0.25}, {'connected_gene': 'DPY30', 'score': 0.23}]
chr2 GH02I031966 31966512 31966661 0.43 [{'connected_gene': 'MEMO1', 'score': 11.21}, {'connected_gene': 'DPY30', 'score': 11.13}, {'connected_gene': 'GC02P031938', 'score': 0.31}]
chr2 GH02I032008 32008542 32012383 2.32 [{'connected_gene': 'MEMO1', 'score': 550.77}, {'connected_gene': 'SLC30A6', 'score': 16.46}, {'connected_gene': 'DPY30', 'score': 0.31}, {'connected_gene': 'GC02P031938', 'score': 0.19}]
chr2 GH02I032591 32591401 32592978 1.05 [{'connected_gene': 'GC02M032591', 'score': 550.77}, {'connected_gene': 'DPY30', 'score': 4.47}, {'connected_gene': 'GC02P032585', 'score': 0.44}, {'connected_gene': 'BIRC6', 'score': 0.07}]
chr2 GH02I031934 31934756 31935856 0.2 [{'connected_gene': 'GC02P031936', 'score': 550.77}, {'connected_gene': 'GC02P031937', 'score': 550.77}, {'connected_gene': 'GC02M031896', 'score': 0.37}, {'connected_gene': 'MEMO1', 'score': 0.18}, {'connected_gene': 'DPY30', 'score': 0.15}]
chr2 GH02I031933 31933422 31934721 0.31 [{'connected_gene': 'GC02P031936', 'score': 0.77}, {'connected_gene': 'GC02P031937', 'score': 0.77}, {'connected_gene': 'GC02M031896', 'score': 0.37}, {'connected_gene': 'MEMO1', 'score': 0.18}, {'connected_gene': 'DPY30', 'score': 0.14}]
chr2 GH02I031974 31974999 31976494 0.2 [{'connected_gene': 'GC02P031938', 'score': 0.28}, {'connected_gene': 'MEMO1', 'score': 0.28}, {'connected_gene': 'DPY30', 'score': 0.21}]