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
ENST00000392272 [[157963062, 157963518], [158045902, 158046052], [158047780, 158047930], [158057544, 158057650], [158057795, 158057944], [158058116, 158058244], [158059291, 158059418], [158059507, 158059608], [158061147, 158061346], [158063128, 158063236], [158063412, 158063552], [158064102, 158064180], [158064433, 158065838]] [[157963466, 157963518], [158045902, 158046052], [158047780, 158047930], [158057544, 158057650], [158057795, 158057944], [158058116, 158058244], [158059291, 158059418], [158059507, 158059608], [158061147, 158061346], [158063128, 158063236], [158063412, 158063552], [158064102, 158064180], [158064433, 158064910]]
ENST00000368173 [[157963062, 157963518], [158045902, 158046052], [158047780, 158047930], [158054211, 158054369], [158056385, 158056536], [158057544, 158057650], [158057795, 158057944], [158058116, 158058244], [158059243, 158059418], [158059507, 158059608], [158061147, 158061346], [158063128, 158063236], [158063412, 158063552], [158064102, 158064180], [158064433, 158065838]] [[157963466, 157963518], [158045902, 158046052], [158047780, 158047930], [158054211, 158054369], [158056385, 158056536], [158057544, 158057650], [158057795, 158057944], [158058116, 158058244], [158059243, 158059418], [158059507, 158059608], [158061147, 158061346], [158063128, 158063236], [158063412, 158063552], [158064102, 158064180], [158064433, 158064910]]
ENST00000360089 [[157963062, 157963522], [158045902, 158046052], [158047780, 158047930], [158057544, 158057650], [158057795, 158057944], [158058116, 158058244], [158059291, 158059418], [158059507, 158059608], [158061147, 158061346], [158063128, 158063236], [158063412, 158063552], [158064102, 158064180], [158064433, 158065841]] [[158046033, 158046052], [158047780, 158047930], [158057544, 158057650], [158057795, 158057944], [158058116, 158058244], [158059291, 158059418], [158059507, 158059608], [158061147, 158061346], [158063128, 158063236], [158063412, 158063552], [158064102, 158064180], [158064433, 158064910]]
ENST00000359209 [[157963399, 157963518], [158045902, 158046052], [158047780, 158047930], [158054211, 158054369], [158056385, 158056536], [158057544, 158057650], [158057795, 158057944], [158058116, 158058244], [158059291, 158059418], [158059507, 158059608], [158061147, 158061346], [158063128, 158063236], [158063412, 158063552], [158064102, 158064180], [158064433, 158065443]] [[157963466, 157963518], [158045902, 158046052], [158047780, 158047930], [158054211, 158054369], [158056385, 158056536], [158057544, 158057650], [158057795, 158057944], [158058116, 158058244], [158059291, 158059418], [158059507, 158059608], [158061147, 158061346], [158063128, 158063236], [158063412, 158063552], [158064102, 158064180], [158064433, 158064910]]
ENST00000416935 [[157963434, 157963518], [158054211, 158054369], [158056385, 158056536], [158057544, 158057650], [158057795, 158057944], [158058116, 158058244], [158059291, 158059418], [158059507, 158059608], [158061147, 158061346], [158063128, 158063236], [158063412, 158063552], [158064102, 158064180], [158064433, 158065010]] [[157963466, 157963518], [158054211, 158054369], [158056385, 158056536], [158057544, 158057650], [158057795, 158057944], [158058116, 158058244], [158059291, 158059418], [158059507, 158059608], [158061147, 158061346], [158063128, 158063236], [158063412, 158063552], [158064102, 158064180], [158064433, 158064910]]
ENST00000368172 [[158056469, 158056536], [158057544, 158057650], [158057795, 158057944], [158058116, 158058244], [158059243, 158059418], [158059507, 158059608], [158061147, 158061346], [158063128, 158063236], [158063412, 158063552], [158064102, 158064180], [158064433, 158070052]] [[158056481, 158056536], [158057544, 158057650], [158057795, 158057944], [158058116, 158058244], [158059243, 158059418], [158059507, 158059608], [158061147, 158061346], [158063128, 158063236], [158063412, 158063552], [158064102, 158064180], [158064433, 158064910]]
Promoter
Chrom Start End Description
chr1 157963072 157963094 CAGE_peak_3_at_KIRREL_5end
chr1 157963160 157963190 CAGE_peak_2_at_KIRREL_5end
chr1 157963391 157963454 CAGE_peak_1_at_KIRREL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I157944 157944637 157945200 0.38 [{'connected_gene': 'CD5L', 'score': 11.03}, {'connected_gene': 'KIRREL1', 'score': 10.17}, {'connected_gene': 'FCRL1', 'score': 9.43}, {'connected_gene': 'LOC105371458', 'score': 0.37}, {'connected_gene': 'LOC105371459', 'score': 0.29}]
chr1 GH01I158027 158027853 158028429 0.38 [{'connected_gene': 'RPS10P8', 'score': 4.52}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.77}, {'connected_gene': 'KIRREL1', 'score': 0.29}, {'connected_gene': 'LOC105371460', 'score': 0.14}]
chr1 GH01I158028 158028749 158029760 0.69 [{'connected_gene': 'RPS10P8', 'score': 4.52}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.77}, {'connected_gene': 'KIRREL1', 'score': 0.28}, {'connected_gene': 'LOC105371460', 'score': 0.14}]
chr1 GH01I158029 158029928 158032431 0.43 [{'connected_gene': 'RPS10P8', 'score': 4.55}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.44}, {'connected_gene': 'KIRREL1', 'score': 0.28}, {'connected_gene': 'LOC105371460', 'score': 0.14}]
chr1 GH01I158144 158144771 158150970 1.34 [{'connected_gene': 'LINC01704', 'score': 550.77}, {'connected_gene': 'CD1D', 'score': 11.35}, {'connected_gene': 'ELL2P1', 'score': 11.35}, {'connected_gene': 'KIRREL1', 'score': 9.89}, {'connected_gene': 'OR10R2', 'score': 3.38}, {'connected_gene': 'OR10X1', 'score': 1.33}, {'connected_gene': 'LOC105371460', 'score': 0.44}]
chr1 GH01I158034 158034728 158040408 1.13 [{'connected_gene': 'KIRREL1', 'score': 12.07}, {'connected_gene': 'RPS10P8', 'score': 5.01}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.39}, {'connected_gene': 'LOC105371460', 'score': 0.15}]
chr1 GH01I158112 158112740 158114000 0.96 [{'connected_gene': 'KIRREL1', 'score': 11.79}, {'connected_gene': 'LINC01704', 'score': 5.25}, {'connected_gene': 'LOC105371460', 'score': 0.31}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.17}]
chr1 GH01I157991 157991414 158023607 2.66 [{'connected_gene': 'KIRREL1', 'score': 563.87}, {'connected_gene': 'LOC246784', 'score': 15.81}, {'connected_gene': 'CD1E', 'score': 11.24}, {'connected_gene': 'OR10T2', 'score': 3.31}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.37}]
chr1 GH01I158125 158125091 158125260 0.72 [{'connected_gene': 'KIRREL1', 'score': 12.01}, {'connected_gene': 'LOC105371460', 'score': 0.37}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.15}]
chr1 GH01I158117 158117655 158118600 0.88 [{'connected_gene': 'KIRREL1', 'score': 12.02}, {'connected_gene': 'LOC105371460', 'score': 0.34}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.16}]
chr1 GH01I158101 158101161 158104251 0.98 [{'connected_gene': 'KIRREL1', 'score': 11.83}, {'connected_gene': 'LOC105371460', 'score': 0.28}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.18}]
chr1 GH01I158124 158124151 158124360 0.31 [{'connected_gene': 'KIRREL1', 'score': 12.01}, {'connected_gene': 'LOC105371460', 'score': 0.37}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.15}]
chr1 GH01I157967 157967950 157970763 1.01 [{'connected_gene': 'KIRREL1', 'score': 12.78}, {'connected_gene': 'LOC105371459', 'score': 0.44}, {'connected_gene': 'LOC105371458', 'score': 0.26}]
chr1 GH01I157964 157964453 157967701 0.72 [{'connected_gene': 'KIRREL1', 'score': 11.85}, {'connected_gene': 'LOC105371459', 'score': 0.39}, {'connected_gene': 'LOC105371458', 'score': 0.26}]
chr1 GH01I157962 157962069 157963356 0.72 [{'connected_gene': 'KIRREL1', 'score': 11.83}, {'connected_gene': 'LOC105371459', 'score': 0.37}, {'connected_gene': 'LOC105371458', 'score': 0.28}]
chr1 GH01I157984 157984591 157984740 0.54 [{'connected_gene': 'KIRREL1', 'score': 0.44}, {'connected_gene': 'LOC105371459', 'score': 0.44}]
chr1 GH01I158067 158067339 158068335 0.31 [{'connected_gene': 'KIRREL1', 'score': 11.28}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.26}, {'connected_gene': 'LOC105371460', 'score': 0.19}]
chr1 GH01I158055 158055971 158056120 0.2 [{'connected_gene': 'KIRREL1', 'score': 11.69}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.29}, {'connected_gene': 'LOC105371460', 'score': 0.18}]
chr1 GH01I158043 158043111 158043809 0.59 [{'connected_gene': 'KIRREL1', 'score': 12.04}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.37}, {'connected_gene': 'LOC105371460', 'score': 0.15}]
chr1 GH01I158045 158045731 158045940 0.69 [{'connected_gene': 'KIRREL1', 'score': 11.28}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.34}, {'connected_gene': 'LOC105371460', 'score': 0.16}]
chr1 GH01I157963 157963731 157963880 0.69 [{'connected_gene': 'LOC246784', 'score': 12.22}, {'connected_gene': 'KIRREL1', 'score': 11.85}, {'connected_gene': 'CD1E', 'score': 10.11}, {'connected_gene': 'LOC105371459', 'score': 0.37}, {'connected_gene': 'LOC105371458', 'score': 0.28}]
chr1 GH01I158087 158087451 158087600 0.72 [{'connected_gene': 'LOC105371460', 'score': 0.23}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.21}, {'connected_gene': 'KIRREL1', 'score': 0.16}]
chr1 GH01I158095 158095831 158096020 0.57 [{'connected_gene': 'LOC105371460', 'score': 0.26}, {'connected_gene': 'KIRREL1-IT1', 'score': 0.19}, {'connected_gene': 'KIRREL1', 'score': 0.15}]
chr1 GH01I158060 158060111 158060300 0.31 [{'connected_gene': 'KIRREL1-IT1', 'score': 0.29}, {'connected_gene': 'KIRREL1', 'score': 0.2}, {'connected_gene': 'LOC105371460', 'score': 0.18}]
chr1 GH01I158024 158024601 158025600 0.63 [{'connected_gene': 'KIRREL1-IT1', 'score': 550.77}, {'connected_gene': 'KIRREL1', 'score': 0.29}]

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