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
ENST00000494628 [[26859299, 26859390], [26859820, 26859969], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27003850]] [[26921133, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27003850]]
ENST00000463501 [[26859549, 26859969], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016]] [[26921133, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016]]
ENST00000382009 [[26862312, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27009604, 27009628], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27024140, 27027003]] [[26862579, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27009604, 27009628], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27024140, 27024618]]
ENST00000237364 [[26862312, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27024140, 27027003]] [[26862579, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27024140, 27024618]]
ENST00000467087 [[26862312, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27024140, 27027003]] [[26862840, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27024140, 27024618]]
ENST00000412829 [[26862415, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27022622, 27022690], [27024140, 27025806]] [[26862579, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27022622, 27022659]]
ENST00000467011 [[26862415, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27022622, 27022690], [27024140, 27025809]] [[26862840, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27022622, 27022659]]
ENST00000465503 [[26862462, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27009604, 27009628], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27024140, 27025588]] [[26862840, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27009604, 27009628], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27024140, 27024618]]
ENST00000478049 [[26863080, 26863296], [26883134, 26883231], [26921125, 26921256], [26959233, 26959348], [26997000, 26997024]] [[26921133, 26921256], [26959233, 26959348], [26997000, 26997024]]
ENST00000478425 [[26859869, 26859969], [26860234, 26860541]] None
ENST00000473519 [[27004621, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27023115, 27023234], [27024140, 27024462]] [[27004621, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27023115, 27023234], [27024140, 27024178]]
ENST00000477474 [[27010094, 27010150], [27010385, 27010624], [27019332, 27019606], [27021021, 27021222]] [[27010094, 27010150], [27010385, 27010624], [27019332, 27019606], [27021021, 27021118]]
ENST00000504511 [[27022903, 27023234], [27024140, 27024283]] None
NM_020860 [[26862312, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27024140, 27027003]] [[26862840, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27024140, 27024618]]
NM_001169117 [[26862312, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27022622, 27022690], [27024140, 27027003]] [[26862840, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27022622, 27022659]]
NM_001169118 [[26862312, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27009604, 27009628], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27024140, 27027003]] [[26862840, 26862991], [26921125, 26921256], [26959233, 26959348], [26997000, 26997112], [27000853, 27000969], [27003838, 27004016], [27004548, 27004726], [27009154, 27009322], [27009604, 27009628], [27010049, 27010150], [27010385, 27010624], [27019332, 27019606], [27024140, 27024618]]
Promoter
Chrom Start End Description
chr4 26859343 26859384 CAGE_peak_3_at_STIM2_5end
chr4 26862314 26862334 CAGE_peak_4_at_STIM2_5end
chr4 26862349 26862360 CAGE_peak_8_at_STIM2_5end
chr4 26862400 26862415 CAGE_peak_6_at_STIM2_5end
chr4 26862431 26862483 CAGE_peak_2_at_STIM2_5end
chr4 26862558 26862576 CAGE_peak_1_at_STIM2_5end
chr4 26862586 26862603 CAGE_peak_5_at_STIM2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I026781 26781904 26783234 0.93 [{'connected_gene': 'CCKAR', 'score': 9.81}, {'connected_gene': 'GC04P026778', 'score': 0.77}, {'connected_gene': 'STIM2', 'score': 0.18}]
chr4 GH04I026819 26819059 26819228 0.31 [{'connected_gene': 'CCKAR', 'score': 9.91}, {'connected_gene': 'STIM2', 'score': 0.28}, {'connected_gene': 'GC04P026778', 'score': 0.26}]
chr4 GH04I026014 26014270 26016830 0.85 [{'connected_gene': 'STIM2', 'score': 4.22}, {'connected_gene': 'CCKAR', 'score': 1.72}, {'connected_gene': 'LINC02357', 'score': 0.22}, {'connected_gene': 'PIR49686', 'score': 0.16}]
chr4 GH04I026881 26881481 26888153 1.43 [{'connected_gene': 'STIM2', 'score': 43.42}, {'connected_gene': 'LOC105374546', 'score': 24.25}, {'connected_gene': 'TBC1D19', 'score': 1.44}, {'connected_gene': 'LOC100421493', 'score': 0.39}, {'connected_gene': 'GC04P026973', 'score': 0.17}]
chr4 GH04I026915 26915326 26918048 0.31 [{'connected_gene': 'STIM2', 'score': 26.79}, {'connected_gene': 'LOC105374546', 'score': 12.06}, {'connected_gene': 'LOC100421493', 'score': 0.26}, {'connected_gene': 'GC04P026973', 'score': 0.22}]
chr4 GH04I026876 26876891 26880444 1.14 [{'connected_gene': 'STIM2', 'score': 11.61}, {'connected_gene': 'LOC105374546', 'score': 10.7}, {'connected_gene': 'LOC100421493', 'score': 0.77}, {'connected_gene': 'GC04P026973', 'score': 0.15}]
chr4 GH04I026938 26938375 26943441 0.73 [{'connected_gene': 'STIM2', 'score': 25.53}, {'connected_gene': 'LOC105374546', 'score': 11.65}, {'connected_gene': 'GC04P026973', 'score': 0.29}, {'connected_gene': 'LOC100421493', 'score': 0.2}]
chr4 GH04I026991 26991735 26995090 1.53 [{'connected_gene': 'STIM2', 'score': 26.07}, {'connected_gene': 'LOC105374546', 'score': 24.82}, {'connected_gene': 'GC04P026984', 'score': 0.44}, {'connected_gene': 'GC04M027054', 'score': 0.2}]
chr4 GH04I026039 26039492 26040288 0.4 [{'connected_gene': 'STIM2', 'score': 7.04}, {'connected_gene': 'LINC02357', 'score': 0.29}, {'connected_gene': 'PIR49686', 'score': 0.13}]
chr4 GH04I026028 26028283 26034152 1.12 [{'connected_gene': 'STIM2', 'score': 5.09}, {'connected_gene': 'LINC02357', 'score': 0.28}, {'connected_gene': 'PIR49686', 'score': 0.14}]
chr4 GH04I026821 26821605 26823135 1.11 [{'connected_gene': 'STIM2', 'score': 19.6}, {'connected_gene': 'GC04P026778', 'score': 0.26}]
chr4 GH04I026802 26802704 26805134 0.63 [{'connected_gene': 'STIM2', 'score': 5.4}, {'connected_gene': 'GC04P026778', 'score': 0.31}]
chr4 GH04I026826 26826401 26827578 0.96 [{'connected_gene': 'STIM2', 'score': 18.19}, {'connected_gene': 'GC04P026778', 'score': 0.25}]
chr4 GH04I026019 26019779 26024287 1.19 [{'connected_gene': 'RBPJ', 'score': 6.71}, {'connected_gene': 'STIM2', 'score': 4.36}, {'connected_gene': 'LINC02357', 'score': 0.25}, {'connected_gene': 'PIR49686', 'score': 0.15}]
chr4 GH04I025908 25908115 25909081 0.93 [{'connected_gene': 'ANAPC4', 'score': 32.01}, {'connected_gene': 'SMIM20', 'score': 25.98}, {'connected_gene': 'ZCCHC4', 'score': 22.89}, {'connected_gene': 'SEL1L3', 'score': 11.33}, {'connected_gene': 'STIM2', 'score': 9.96}, {'connected_gene': 'LOC105374538', 'score': 0.44}, {'connected_gene': 'GC04M025896', 'score': 0.39}]
chr4 GH04I026963 26963833 26966050 0.2 [{'connected_gene': 'LOC105374546', 'score': 9.87}, {'connected_gene': 'STIM2', 'score': 9.68}, {'connected_gene': 'CCKAR', 'score': 9.03}, {'connected_gene': 'GC04P026973', 'score': 0.44}, {'connected_gene': 'LOC100421493', 'score': 0.16}]
chr4 GH04I026929 26929171 26933894 0.6 [{'connected_gene': 'LOC105374546', 'score': 12.35}, {'connected_gene': 'STIM2', 'score': 11.38}, {'connected_gene': 'GC04P026973', 'score': 0.26}, {'connected_gene': 'LOC100421493', 'score': 0.22}]
chr4 GH04I026892 26892004 26894277 0.38 [{'connected_gene': 'LOC105374546', 'score': 25.99}, {'connected_gene': 'STIM2', 'score': 21.62}, {'connected_gene': 'LOC100421493', 'score': 0.37}, {'connected_gene': 'GC04P026973', 'score': 0.18}]
chr4 GH04I026864 26864728 26865768 0.63 [{'connected_gene': 'LOC105374546', 'score': 50.43}, {'connected_gene': 'STIM2', 'score': 15.27}, {'connected_gene': 'LOC100421493', 'score': 0.44}]
chr4 GH04I026936 26936759 26937201 1.23 [{'connected_gene': 'LOC105374546', 'score': 12.61}, {'connected_gene': 'STIM2', 'score': 10.0}, {'connected_gene': 'GC04P026973', 'score': 0.28}, {'connected_gene': 'LOC100421493', 'score': 0.21}]
chr4 GH04I026999 26999705 27000754 0.49 [{'connected_gene': 'LOC105374546', 'score': 18.74}, {'connected_gene': 'STIM2', 'score': 11.75}, {'connected_gene': 'GC04P026984', 'score': 0.37}, {'connected_gene': 'GC04M027054', 'score': 0.21}]
chr4 GH04I026976 26976437 26980220 0.31 [{'connected_gene': 'LOC105374546', 'score': 9.45}, {'connected_gene': 'STIM2', 'score': 5.97}, {'connected_gene': 'GC04P026973', 'score': 0.77}, {'connected_gene': 'GC04P026984', 'score': 0.44}]
chr4 GH04I027005 27004780 27008088 0.83 [{'connected_gene': 'LOC105374546', 'score': 19.39}, {'connected_gene': 'STIM2', 'score': 17.77}, {'connected_gene': 'GC04P026984', 'score': 0.34}, {'connected_gene': 'GC04M027054', 'score': 0.22}]
chr4 GH04I026986 26986724 26987880 0.2 [{'connected_gene': 'LOC105374546', 'score': 8.37}, {'connected_gene': 'STIM2', 'score': 5.97}, {'connected_gene': 'GC04P026984', 'score': 0.77}, {'connected_gene': 'GC04M027054', 'score': 0.19}]
chr4 GH04I026856 26856763 26863437 2.26 [{'connected_gene': 'LOC105374546', 'score': 609.94}, {'connected_gene': 'STIM2', 'score': 564.84}]
chr4 GH04I026839 26839600 26840000 0.46 [{'connected_gene': 'LOC105374546', 'score': 11.9}, {'connected_gene': 'STIM2', 'score': 0.37}, {'connected_gene': 'GC04P026778', 'score': 0.21}]
chr4 GH04I026872 26872577 26874930 0.86 [{'connected_gene': 'LOC100421493', 'score': 550.77}, {'connected_gene': 'STIM2', 'score': 11.76}, {'connected_gene': 'LOC105374546', 'score': 8.64}]
chr4 GH04I026907 26907801 26908399 0.2 [{'connected_gene': 'LOC100421493', 'score': 0.29}, {'connected_gene': 'STIM2', 'score': 0.23}, {'connected_gene': 'GC04P026973', 'score': 0.2}]
chr4 GH04I026904 26904401 26904800 0.2 [{'connected_gene': 'LOC100421493', 'score': 0.29}, {'connected_gene': 'STIM2', 'score': 0.25}, {'connected_gene': 'GC04P026973', 'score': 0.2}]
chr4 GH04I026867 26867801 26868200 0.66 [{'connected_gene': 'LOC100421493', 'score': 0.44}, {'connected_gene': 'LOC105374546', 'score': 0.44}, {'connected_gene': 'STIM2', 'score': 0.39}]
chr4 GH04I026871 26871800 26872000 0.38 [{'connected_gene': 'LOC100421493', 'score': 0.77}, {'connected_gene': 'LOC105374546', 'score': 0.39}, {'connected_gene': 'STIM2', 'score': 0.39}]
chr4 GH04I026787 26787065 26789461 1 [{'connected_gene': 'GC04P026778', 'score': 0.44}, {'connected_gene': 'STIM2', 'score': 0.2}]
chr4 GH04I027004 27004272 27004454 0.4 [{'connected_gene': 'GC04P026984', 'score': 0.34}, {'connected_gene': 'GC04M027054', 'score': 0.22}, {'connected_gene': 'STIM2', 'score': 0.11}]
chr4 GH04I027010 27010400 27010800 0.85 [{'connected_gene': 'GC04P026984', 'score': 0.31}, {'connected_gene': 'GC04M027054', 'score': 0.23}, {'connected_gene': 'STIM2', 'score': 0.1}]
chr4 GH04I026811 26811602 26813199 0.43 [{'connected_gene': 'GC04P026778', 'score': 0.29}, {'connected_gene': 'STIM2', 'score': 0.25}]
chr4 GH04I026985 26985939 26986215 0.85 [{'connected_gene': 'GC04P026984', 'score': 550.77}, {'connected_gene': 'GC04M027054', 'score': 0.18}, {'connected_gene': 'STIM2', 'score': 0.13}]
chr4 GH04I026778 26778795 26781322 0.49 [{'connected_gene': 'GC04P026778', 'score': 550.77}, {'connected_gene': 'TBC1D19', 'score': 4.89}, {'connected_gene': 'STIM2', 'score': 0.18}]
chr4 GH04I026953 26953776 26954134 0.63 [{'connected_gene': 'GC04P026973', 'score': 0.37}, {'connected_gene': 'LOC100421493', 'score': 0.18}, {'connected_gene': 'STIM2', 'score': 0.15}]

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