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
ENST00000330263 [[19578032, 19578357], [19581275, 19581334], [19582441, 19582545], [19583557, 19583639], [19583947, 19584015], [19584326, 19584478], [19584970, 19585047], [19585174, 19586622]] [[19578329, 19578357], [19581275, 19581334], [19582441, 19582545], [19583557, 19583639], [19583947, 19584015], [19584326, 19584478], [19584970, 19585047], [19585174, 19585324]]
ENST00000493700 [[19578328, 19578742], [19581275, 19581334], [19582441, 19582546]] None
ENST00000479559 [[19584205, 19584478], [19584970, 19585047], [19585174, 19585233]] None
NM_016183 [[19578074, 19578357], [19581275, 19581334], [19582441, 19582545], [19583557, 19583639], [19583947, 19584015], [19584326, 19584478], [19584970, 19585047], [19585174, 19586622]] [[19578329, 19578357], [19581275, 19581334], [19582441, 19582545], [19583557, 19583639], [19583947, 19584015], [19584326, 19584478], [19584970, 19585047], [19585174, 19585324]]
Promoter
Chrom Start End Description
chr1 19578036 19578094 CAGE_peak_2_at_MRTO4_5end
chr1 19578097 19578114 CAGE_peak_3_at_MRTO4_5end
chr1 19578116 19578131 CAGE_peak_4_at_MRTO4_5end
chr1 19578147 19578153 CAGE_peak_6_at_MRTO4_5end
chr1 19578280 19578334 CAGE_peak_1_at_MRTO4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I019082 19082665 19084205 0.83 [{'connected_gene': 'TAS1R2', 'score': 10.47}, {'connected_gene': 'MRTO4', 'score': 4.67}, {'connected_gene': 'ENSG00000272084', 'score': 0.44}, {'connected_gene': 'GC01M019115', 'score': 0.29}, {'connected_gene': 'UBR4', 'score': 0.13}]
chr1 GH01I019079 19079505 19082581 1.32 [{'connected_gene': 'TAS1R2', 'score': 10.47}, {'connected_gene': 'EMC1', 'score': 8.24}, {'connected_gene': 'UBR4', 'score': 5.64}, {'connected_gene': 'MRTO4', 'score': 4.65}, {'connected_gene': 'ENSG00000272084', 'score': 0.44}, {'connected_gene': 'GC01M019115', 'score': 0.28}]
chr1 GH01I019267 19267452 19268366 0.2 [{'connected_gene': 'MRTO4', 'score': 4.77}, {'connected_gene': 'GC01M019261', 'score': 0.77}, {'connected_gene': 'AKR7L', 'score': 0.44}]
chr1 GH01I019089 19089335 19090110 0.46 [{'connected_gene': 'MRTO4', 'score': 4.67}, {'connected_gene': 'ENSG00000272084', 'score': 0.39}, {'connected_gene': 'GC01M019115', 'score': 0.31}, {'connected_gene': 'UBR4', 'score': 0.13}]
chr1 GH01I019268 19268470 19271270 0.56 [{'connected_gene': 'MRTO4', 'score': 8.9}, {'connected_gene': 'EMC1', 'score': 7.43}, {'connected_gene': 'AKR7L', 'score': 0.77}, {'connected_gene': 'GC01M019261', 'score': 0.44}]
chr1 GH01I019249 19249601 19250000 0.43 [{'connected_gene': 'MRTO4', 'score': 561.33}, {'connected_gene': 'EMC1', 'score': 550.77}, {'connected_gene': 'PIR41702', 'score': 0.37}]
chr1 GH01I019250 19250544 19253767 2.09 [{'connected_gene': 'MRTO4', 'score': 567.29}, {'connected_gene': 'EMC1', 'score': 550.77}, {'connected_gene': 'GC01M019261', 'score': 0.39}]
chr1 GH01I019260 19260069 19261400 1 [{'connected_gene': 'MRTO4', 'score': 12.14}, {'connected_gene': 'EMC1', 'score': 8.29}, {'connected_gene': 'GC01M019261', 'score': 0.77}]
chr1 GH01I019069 19069620 19070074 0.43 [{'connected_gene': 'MRTO4', 'score': 4.47}, {'connected_gene': 'ENSG00000272084', 'score': 0.44}, {'connected_gene': 'LOC105376815', 'score': 0.37}]
chr1 GH01I018794 18794627 18794816 0.46 [{'connected_gene': 'MRTO4', 'score': 4.71}, {'connected_gene': 'GC01M018795', 'score': 0.77}, {'connected_gene': 'GC01P018746', 'score': 0.25}]
chr1 GH01I019639 19639894 19641322 1.23 [{'connected_gene': 'NBL1', 'score': 550.77}, {'connected_gene': 'MRTO4', 'score': 5.01}, {'connected_gene': 'AKR7A2', 'score': 4.88}, {'connected_gene': 'GC01M019654', 'score': 0.37}, {'connected_gene': 'MINOS1-NBL1', 'score': 0.26}]
chr1 GH01I019271 19271855 19275219 1.32 [{'connected_gene': 'AKR7L', 'score': 550.77}, {'connected_gene': 'RNU6-1099P', 'score': 12.25}, {'connected_gene': 'AKR7A2', 'score': 12.24}, {'connected_gene': 'PQLC2', 'score': 12.24}, {'connected_gene': 'TAS1R2', 'score': 9.48}, {'connected_gene': 'MRTO4', 'score': 8.36}, {'connected_gene': 'AKR7A3', 'score': 6.98}, {'connected_gene': 'ENSG00000272084', 'score': 4.51}, {'connected_gene': 'GC01M019261', 'score': 0.44}]
chr1 GH01I019207 19207642 19211940 2.32 [{'connected_gene': 'UBR4', 'score': 574.13}, {'connected_gene': 'LOC101927895', 'score': 550.77}, {'connected_gene': 'EMC1', 'score': 32.07}, {'connected_gene': 'MRTO4', 'score': 4.83}, {'connected_gene': 'PIR60239', 'score': 0.31}]
chr1 GH01I019090 19090191 19093412 0.31 [{'connected_gene': 'EMC1', 'score': 11.97}, {'connected_gene': 'MRTO4', 'score': 4.67}, {'connected_gene': 'ENSG00000272084', 'score': 0.37}, {'connected_gene': 'GC01M019115', 'score': 0.31}, {'connected_gene': 'UBR4', 'score': 0.13}]
chr1 GH01I019085 19085915 19087024 0.4 [{'connected_gene': 'EMC1', 'score': 21.46}, {'connected_gene': 'MRTO4', 'score': 4.67}, {'connected_gene': 'ENSG00000272084', 'score': 0.39}, {'connected_gene': 'GC01M019115', 'score': 0.29}, {'connected_gene': 'UBR4', 'score': 0.13}]
chr1 GH01I019065 19065825 19067324 0.97 [{'connected_gene': 'EMC1', 'score': 20.62}, {'connected_gene': 'UBR4', 'score': 10.21}, {'connected_gene': 'MRTO4', 'score': 4.49}, {'connected_gene': 'ENSG00000272084', 'score': 0.44}, {'connected_gene': 'LOC105376815', 'score': 0.37}]
chr1 GH01I019121 19121459 19125190 0.43 [{'connected_gene': 'EMC1', 'score': 21.5}, {'connected_gene': 'UBR4', 'score': 11.25}, {'connected_gene': 'MRTO4', 'score': 4.69}, {'connected_gene': 'GC01M019115', 'score': 0.44}, {'connected_gene': 'GC01M019138', 'score': 0.29}]
chr1 GH01I019178 19178874 19181266 0.79 [{'connected_gene': 'EMC1', 'score': 22.51}, {'connected_gene': 'UBR4', 'score': 10.74}, {'connected_gene': 'MRTO4', 'score': 4.66}, {'connected_gene': 'PIR60239', 'score': 0.77}, {'connected_gene': 'GC01P019169', 'score': 0.39}]
chr1 GH01I019241 19241347 19241516 0.76 [{'connected_gene': 'EMC1', 'score': 21.72}, {'connected_gene': 'RNU6-1099P', 'score': 11.45}, {'connected_gene': 'AKR7A2', 'score': 11.43}, {'connected_gene': 'PQLC2', 'score': 11.43}, {'connected_gene': 'AKR7A3', 'score': 4.84}, {'connected_gene': 'PIR41702', 'score': 0.44}, {'connected_gene': 'MRTO4', 'score': 0.39}]
chr1 GH01I019287 19287493 19288598 1.01 [{'connected_gene': 'AKR7A3', 'score': 553.21}, {'connected_gene': 'EMC1', 'score': 14.69}, {'connected_gene': 'MRTO4', 'score': 5.19}, {'connected_gene': 'ALDH4A1', 'score': 1.94}, {'connected_gene': 'AKR7L', 'score': 0.39}]
chr1 GH01I019261 19261988 19262508 0.38 [{'connected_gene': 'GC01M019261', 'score': 550.77}, {'connected_gene': 'MRTO4', 'score': 8.91}, {'connected_gene': 'EMC1', 'score': 8.32}]
chr1 GH01I019231 19231794 19233693 0.6 [{'connected_gene': 'PIR41702', 'score': 550.77}, {'connected_gene': 'EMC1', 'score': 40.65}, {'connected_gene': 'MRTO4', 'score': 7.97}, {'connected_gene': 'AKR7A3', 'score': 5.96}, {'connected_gene': 'LOC101927895', 'score': 0.34}]
chr1 GH01I018798 18798154 18801046 0.82 [{'connected_gene': 'GC01M018795', 'score': 550.77}, {'connected_gene': 'EMC1', 'score': 14.41}, {'connected_gene': 'PAX7', 'score': 10.5}, {'connected_gene': 'MRTO4', 'score': 4.51}, {'connected_gene': 'TAS1R2', 'score': 0.21}]