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
ENST00000268138 [[90118712, 90119471], [90125916, 90126196], [90127516, 90127758], [90128938, 90129173], [90135277, 90135407], [90137645, 90137785], [90138623, 90138842], [90142554, 90142706], [90143815, 90143916], [90144528, 90144622], [90144719, 90144799], [90144967, 90145207], [90146026, 90146123], [90149998, 90150056], [90152033, 90152180], [90159635, 90159726], [90161382, 90161441], [90162938, 90163073], [90164623, 90164781], [90166853, 90169017], [90169166, 90169292], [90170186, 90171250]] [[90118817, 90119471], [90125916, 90126196], [90127516, 90127758], [90128938, 90129173], [90135277, 90135407], [90137645, 90137785], [90138623, 90138842], [90142554, 90142706], [90143815, 90143916], [90144528, 90144622], [90144719, 90144799], [90144967, 90145207], [90146026, 90146123], [90149998, 90150056], [90152033, 90152180], [90159635, 90159726], [90161382, 90161441], [90162938, 90163073], [90164623, 90164781], [90166853, 90169017], [90169166, 90169292], [90170186, 90170317]]
ENST00000560985 [[90118817, 90119471], [90125916, 90126196], [90127519, 90127758], [90128938, 90129173], [90135277, 90135407], [90137645, 90137785], [90138623, 90138842], [90142554, 90142706], [90143815, 90143916], [90144528, 90144622], [90144719, 90144799], [90144967, 90145207], [90146026, 90146123], [90149998, 90150056], [90152033, 90152180], [90159635, 90159726], [90161382, 90161441], [90162938, 90163073], [90164623, 90164781], [90166853, 90169017], [90169166, 90169292], [90170186, 90171243]] [[90118817, 90119471], [90125916, 90126196], [90127519, 90127758], [90128938, 90129173], [90135277, 90135407], [90137645, 90137785], [90138623, 90138842], [90142554, 90142706], [90143815, 90143916], [90144528, 90144622], [90144719, 90144799], [90144967, 90145207], [90146026, 90146123], [90149998, 90150056], [90152033, 90152180], [90159635, 90159726], [90161382, 90161441], [90162938, 90163073], [90164623, 90164781], [90166853, 90169017], [90169166, 90169292], [90170186, 90170317]]
ENST00000561095 [[90168630, 90169017], [90169166, 90169292], [90170186, 90170413], [90172660, 90174287]] [[90168630, 90169017], [90169166, 90169292], [90170186, 90170317]]
NM_001308025 [[90118817, 90119471], [90125916, 90126196], [90127519, 90127758], [90128938, 90129173], [90135277, 90135407], [90137645, 90137785], [90138623, 90138842], [90142554, 90142706], [90143815, 90143916], [90144528, 90144622], [90144719, 90144799], [90144967, 90145207], [90146026, 90146123], [90149998, 90150056], [90152033, 90152180], [90159635, 90159726], [90161382, 90161441], [90162938, 90163073], [90164623, 90164781], [90166853, 90169017], [90169166, 90169292], [90170186, 90171254]] [[90118817, 90119471], [90125916, 90126196], [90127519, 90127758], [90128938, 90129173], [90135277, 90135407], [90137645, 90137785], [90138623, 90138842], [90142554, 90142706], [90143815, 90143916], [90144528, 90144622], [90144719, 90144799], [90144967, 90145207], [90146026, 90146123], [90149998, 90150056], [90152033, 90152180], [90159635, 90159726], [90161382, 90161441], [90162938, 90163073], [90164623, 90164781], [90166853, 90169017], [90169166, 90169292], [90170186, 90170317]]
NM_152259 [[90118817, 90119471], [90125916, 90126196], [90127516, 90127758], [90128938, 90129173], [90135277, 90135407], [90137645, 90137785], [90138623, 90138842], [90142554, 90142706], [90143815, 90143916], [90144528, 90144622], [90144719, 90144799], [90144967, 90145207], [90146026, 90146123], [90149998, 90150056], [90152033, 90152180], [90159635, 90159726], [90161382, 90161441], [90162938, 90163073], [90164623, 90164781], [90166853, 90169017], [90169166, 90169292], [90170186, 90171254]] [[90118817, 90119471], [90125916, 90126196], [90127516, 90127758], [90128938, 90129173], [90135277, 90135407], [90137645, 90137785], [90138623, 90138842], [90142554, 90142706], [90143815, 90143916], [90144528, 90144622], [90144719, 90144799], [90144967, 90145207], [90146026, 90146123], [90149998, 90150056], [90152033, 90152180], [90159635, 90159726], [90161382, 90161441], [90162938, 90163073], [90164623, 90164781], [90166853, 90169017], [90169166, 90169292], [90170186, 90170317]]
Promoter
Chrom Start End Description
chr15 90118685 90118717 CAGE_peak_2_at_C15orf42_5end
chr15 90118723 90118753 CAGE_peak_1_at_C15orf42_5end
chr15 90167781 90167785 CAGE_peak_6_at_C15orf42_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I089548 89548126 89549218 0.2 [{'connected_gene': 'TICRR', 'score': 10.34}, {'connected_gene': 'PEX11A', 'score': 5.67}, {'connected_gene': 'LINC00928', 'score': 0.34}, {'connected_gene': 'ENSG00000259713', 'score': 0.29}]
chr15 GH15I089574 89574601 89578263 2.03 [{'connected_gene': 'TICRR', 'score': 561.71}, {'connected_gene': 'POLG', 'score': 42.28}, {'connected_gene': 'LOC100631255', 'score': 27.43}, {'connected_gene': 'FANCI', 'score': 10.42}, {'connected_gene': 'KIF7', 'score': 5.72}, {'connected_gene': 'GC15M089580', 'score': 0.77}, {'connected_gene': 'ENSG00000259713', 'score': 0.22}]
chr15 GH15I089556 89556770 89556919 0.83 [{'connected_gene': 'TICRR', 'score': 8.23}, {'connected_gene': 'LINC00928', 'score': 0.29}, {'connected_gene': 'ENSG00000259713', 'score': 0.28}]
chr15 GH15I089664 89664802 89666856 0.89 [{'connected_gene': 'PEX11A', 'score': 11.81}, {'connected_gene': 'WDR93', 'score': 11.81}, {'connected_gene': 'RPL36AP43', 'score': 11.81}, {'connected_gene': 'MESP1', 'score': 10.3}, {'connected_gene': 'TICRR', 'score': 7.98}, {'connected_gene': 'KIF7', 'score': 0.77}, {'connected_gene': 'PLIN1', 'score': 0.39}]
chr15 GH15I089689 89689801 89691400 1.98 [{'connected_gene': 'WDR93', 'score': 566.63}, {'connected_gene': 'PEX11A', 'score': 558.31}, {'connected_gene': 'TICRR', 'score': 6.48}]
chr15 GH15I089646 89646611 89649544 1.06 [{'connected_gene': 'FANCI', 'score': 12.25}, {'connected_gene': 'HMGB1P8', 'score': 11.05}, {'connected_gene': 'ENSG00000259314', 'score': 10.75}, {'connected_gene': 'ENSG00000259212', 'score': 9.73}, {'connected_gene': 'TICRR', 'score': 7.51}, {'connected_gene': 'KIF7', 'score': 5.76}, {'connected_gene': 'ENSG00000259615', 'score': 0.2}]
chr15 GH15I089551 89551692 89551868 0.84 [{'connected_gene': 'RHCG', 'score': 3.85}, {'connected_gene': 'TICRR', 'score': 0.34}, {'connected_gene': 'LINC00928', 'score': 0.31}, {'connected_gene': 'ENSG00000259713', 'score': 0.29}]
chr15 GH15I089529 89529974 89532647 0.31 [{'connected_gene': 'RHCG', 'score': 13.31}, {'connected_gene': 'PLIN1', 'score': 10.21}, {'connected_gene': 'FANCI', 'score': 5.21}, {'connected_gene': 'GDPGP1', 'score': 4.55}, {'connected_gene': 'LINC00928', 'score': 0.44}, {'connected_gene': 'ENSG00000259713', 'score': 0.39}, {'connected_gene': 'TICRR', 'score': 0.26}]
chr15 GH15I089526 89526832 89527703 0.31 [{'connected_gene': 'RHCG', 'score': 13.31}, {'connected_gene': 'LINC00928', 'score': 0.77}, {'connected_gene': 'ENSG00000259713', 'score': 0.44}, {'connected_gene': 'TICRR', 'score': 0.25}]
chr15 GH15I089997 89997925 90006282 2.69 [{'connected_gene': 'ZNF710', 'score': 557.94}, {'connected_gene': 'FANCI', 'score': 22.96}, {'connected_gene': 'NIFKP5', 'score': 13.96}, {'connected_gene': 'ENSG00000259212', 'score': 13.26}, {'connected_gene': 'ENSG00000259314', 'score': 13.0}, {'connected_gene': 'UNC45A', 'score': 12.97}, {'connected_gene': 'POLG', 'score': 12.8}, {'connected_gene': 'ENSG00000228998', 'score': 10.99}, {'connected_gene': 'PRC1', 'score': 10.73}, {'connected_gene': 'TICRR', 'score': 10.09}, {'connected_gene': 'IQGAP1', 'score': 7.4}, {'connected_gene': 'ARPIN', 'score': 5.36}, {'connected_gene': 'ANPEP', 'score': 1.24}, {'connected_gene': 'MIR3174', 'score': 0.77}]
chr15 GH15I089565 89565041 89567619 0.56 [{'connected_gene': 'KIF7', 'score': 16.65}, {'connected_gene': 'TICRR', 'score': 10.63}, {'connected_gene': 'PLIN1', 'score': 9.85}, {'connected_gene': 'LINC00928', 'score': 0.26}, {'connected_gene': 'ENSG00000259713', 'score': 0.25}]
chr15 GH15I089654 89654328 89656442 2.12 [{'connected_gene': 'KIF7', 'score': 551.92}, {'connected_gene': 'TICRR', 'score': 7.75}, {'connected_gene': 'MIR9-3HG', 'score': 4.47}, {'connected_gene': 'ENSG00000259615', 'score': 0.19}]
chr15 GH15I089662 89662307 89664199 0.66 [{'connected_gene': 'KIF7', 'score': 550.77}, {'connected_gene': 'PEX11A', 'score': 11.79}, {'connected_gene': 'WDR93', 'score': 11.79}, {'connected_gene': 'RPL36AP43', 'score': 11.79}, {'connected_gene': 'MESP1', 'score': 10.3}, {'connected_gene': 'TICRR', 'score': 4.79}, {'connected_gene': 'ENSG00000228998', 'score': 4.61}, {'connected_gene': 'PLIN1', 'score': 0.37}]
chr15 GH15I089541 89541354 89544177 0.38 [{'connected_gene': 'KIF7', 'score': 5.5}, {'connected_gene': 'FANCI', 'score': 4.76}, {'connected_gene': 'LINC00928', 'score': 0.37}, {'connected_gene': 'ENSG00000259713', 'score': 0.34}, {'connected_gene': 'TICRR', 'score': 0.29}]
chr15 GH15I089545 89545884 89546419 0.43 [{'connected_gene': 'LINC00928', 'score': 0.34}, {'connected_gene': 'TICRR', 'score': 0.31}, {'connected_gene': 'ENSG00000259713', 'score': 0.31}]
chr15 GH15I089539 89539868 89541045 0.31 [{'connected_gene': 'LINC00928', 'score': 0.37}, {'connected_gene': 'ENSG00000259713', 'score': 0.34}, {'connected_gene': 'TICRR', 'score': 0.29}]
chr15 GH15I089532 89532756 89533242 0.2 [{'connected_gene': 'LINC00928', 'score': 0.44}, {'connected_gene': 'ENSG00000259713', 'score': 0.39}, {'connected_gene': 'TICRR', 'score': 0.26}]
chr15 GH15I089086 89086690 89095682 2.57 [{'connected_gene': 'ABHD2', 'score': 561.49}, {'connected_gene': 'LOC102724566', 'score': 13.74}, {'connected_gene': 'POLG', 'score': 13.05}, {'connected_gene': 'RNU7-195P', 'score': 12.81}, {'connected_gene': 'ENSG00000261407', 'score': 11.51}, {'connected_gene': 'LOC100631255', 'score': 10.74}, {'connected_gene': 'FANCI', 'score': 10.46}, {'connected_gene': 'TICRR', 'score': 9.8}, {'connected_gene': 'HAPLN3', 'score': 1.84}, {'connected_gene': 'ISG20', 'score': 1.66}, {'connected_gene': 'GC15M089095', 'score': 0.39}]
chr15 GH15I090229 90229264 90235346 2.27 [{'connected_gene': 'CIB1', 'score': 586.42}, {'connected_gene': 'PIR48569', 'score': 550.77}, {'connected_gene': 'GDPGP1', 'score': 550.77}, {'connected_gene': 'ENSG00000284626', 'score': 550.77}, {'connected_gene': 'ENSG00000259212', 'score': 13.28}, {'connected_gene': 'ENSG00000259314', 'score': 13.02}, {'connected_gene': 'UNC45A', 'score': 12.97}, {'connected_gene': 'POLG', 'score': 12.8}, {'connected_gene': 'FANCI', 'score': 12.52}, {'connected_gene': 'TICRR', 'score': 10.08}, {'connected_gene': 'RPS12P26', 'score': 0.31}, {'connected_gene': 'SEMA4B', 'score': 0.19}]
chr15 GH15I089892 89892772 89895042 2.15 [{'connected_gene': 'AP3S2', 'score': 564.22}, {'connected_gene': 'POLG', 'score': 65.57}, {'connected_gene': 'ENSG00000259314', 'score': 42.43}, {'connected_gene': 'LOC100631255', 'score': 35.45}, {'connected_gene': 'NIFKP5', 'score': 29.49}, {'connected_gene': 'FANCI', 'score': 24.76}, {'connected_gene': 'ENSG00000259212', 'score': 22.82}, {'connected_gene': 'RPL36AP43', 'score': 22.75}, {'connected_gene': 'KIF7', 'score': 22.7}, {'connected_gene': 'ARPIN', 'score': 21.28}, {'connected_gene': 'WDR93', 'score': 13.56}, {'connected_gene': 'CRTC3', 'score': 12.9}, {'connected_gene': 'TICRR', 'score': 10.11}, {'connected_gene': 'MFGE8', 'score': 10.1}, {'connected_gene': 'GC15M089889', 'score': 0.44}, {'connected_gene': 'PIR40995', 'score': 0.44}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.37}]
chr15 GH15I089474 89474133 89474697 0.56 [{'connected_gene': 'NIFKP5', 'score': 24.18}, {'connected_gene': 'ENSG00000228998', 'score': 20.05}, {'connected_gene': 'POLG', 'score': 10.82}, {'connected_gene': 'TICRR', 'score': 2.05}, {'connected_gene': 'MESP1', 'score': 1.38}, {'connected_gene': 'LOC105370964', 'score': 0.44}, {'connected_gene': 'RHCG', 'score': 0.34}]
chr15 GH15I089587 89587387 89588557 0.69 [{'connected_gene': 'ENSG00000259615', 'score': 0.44}, {'connected_gene': 'TICRR', 'score': 0.39}, {'connected_gene': 'ENSG00000259713', 'score': 0.2}, {'connected_gene': 'KIF7', 'score': 0.18}]