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
ENST00000398874 [[10758611, 10758973], [10760452, 10760639]] None
ENST00000539554 [[10758611, 10758973], [10760452, 10760535], [10762429, 10762540], [10763220, 10763279], [10766139, 10766190]] [[10758873, 10758973], [10760452, 10760535], [10762429, 10762540], [10763220, 10763235]]
ENST00000381881 [[10758611, 10758973], [10760452, 10760535], [10763220, 10763279], [10766037, 10766193]] [[10758873, 10758973], [10760452, 10760535], [10763220, 10763279], [10766037, 10766131]]
ENST00000544850 [[10758611, 10758973], [10760452, 10760535], [10761696, 10761982], [10762429, 10762540], [10763220, 10763279], [10766037, 10766193]] [[10761973, 10761982], [10762429, 10762540], [10763220, 10763279], [10766037, 10766131]]
ENST00000537852 [[10758611, 10758973], [10760452, 10762540], [10763220, 10763279], [10766037, 10766199]] None
ENST00000320756 [[10758611, 10758973], [10760452, 10760535], [10762429, 10762540], [10763220, 10763279], [10766037, 10766222]] [[10758873, 10758973], [10760452, 10760535], [10762429, 10762540], [10763220, 10763279], [10766037, 10766131]]
ENST00000540074 [[10758858, 10758973], [10760452, 10760535], [10761696, 10761982], [10762429, 10762540], [10763220, 10763279], [10766139, 10766190]] [[10761973, 10761982], [10762429, 10762540], [10763220, 10763235]]
ENST00000545236 [[10758868, 10758973], [10760452, 10760535], [10762429, 10762540], [10763220, 10763279], [10765238, 10765577], [10766037, 10766208]] [[10765425, 10765577], [10766037, 10766131]]
ENST00000543929 [[10761812, 10761982], [10762429, 10762540], [10763220, 10763279], [10765238, 10765577], [10766037, 10766199]] [[10765425, 10765577], [10766037, 10766131]]
ENST00000546173 [[10761875, 10761982], [10762429, 10762540], [10763220, 10763279], [10765413, 10765577], [10766037, 10766172]] [[10765425, 10765577], [10766037, 10766131]]
ENST00000544176 [[10762202, 10762540], [10763220, 10763279], [10766037, 10766199]] None
NM_001300739 [[10756788, 10758973], [10760452, 10760535], [10762429, 10762540], [10763220, 10763279], [10765238, 10765577]] [[10758873, 10758973], [10760452, 10760535], [10762429, 10762540], [10763220, 10763235]]
NR_135120 [[10756788, 10758973], [10760452, 10760535], [10761696, 10761982], [10762429, 10762540], [10763220, 10763279], [10766037, 10766208]] None
NM_018048 [[10756788, 10758973], [10760452, 10760535], [10762429, 10762540], [10763220, 10763279], [10766037, 10766208]] [[10758873, 10758973], [10760452, 10760535], [10762429, 10762540], [10763220, 10763279], [10766037, 10766131]]
NR_135121 [[10756788, 10758973], [10760452, 10760535], [10761696, 10761982], [10762429, 10762540], [10763220, 10763279], [10766139, 10766208]] None
NM_001319985 [[10756788, 10758973], [10760452, 10760535], [10762429, 10762540], [10763220, 10763279], [10766139, 10766208]] [[10758873, 10758973], [10760452, 10760535], [10762429, 10762540], [10763220, 10763235]]
Promoter
Chrom Start End Description
chr12 10766129 10766180 CAGE_peak_1_at_MAGOHB_5end
chr12 10766184 10766215 CAGE_peak_2_at_MAGOHB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I010707 10707053 10708146 0.2 [{'connected_gene': 'YBX3', 'score': 11.93}, {'connected_gene': 'STYK1', 'score': 11.48}, {'connected_gene': 'GABARAPL1', 'score': 10.45}, {'connected_gene': 'ENSG00000255958', 'score': 10.45}, {'connected_gene': 'MAGOHB', 'score': 10.42}, {'connected_gene': 'KLRC1', 'score': 9.13}, {'connected_gene': 'LOC105369660', 'score': 0.37}, {'connected_gene': 'GC12P010619', 'score': 0.17}]
chr12 GH12I010715 10715682 10724506 2.28 [{'connected_gene': 'YBX3', 'score': 561.22}, {'connected_gene': 'KLRA1P', 'score': 56.72}, {'connected_gene': 'TAS2R20', 'score': 33.59}, {'connected_gene': 'TAS2R31', 'score': 26.41}, {'connected_gene': 'TAS2R43', 'score': 25.46}, {'connected_gene': 'MAGOHB', 'score': 22.54}, {'connected_gene': 'TAS2R14', 'score': 13.81}, {'connected_gene': 'TAS2R50', 'score': 13.38}, {'connected_gene': 'TAS2R15P', 'score': 12.67}, {'connected_gene': 'TAS2R10', 'score': 12.6}, {'connected_gene': 'TAS2R64P', 'score': 12.58}, {'connected_gene': 'ENSG00000256682', 'score': 12.01}, {'connected_gene': 'ENSG00000256981', 'score': 11.94}, {'connected_gene': 'TAS2R19', 'score': 11.21}, {'connected_gene': 'STYK1', 'score': 10.86}, {'connected_gene': 'PRH2', 'score': 10.14}, {'connected_gene': 'ENSG00000255958', 'score': 10.05}, {'connected_gene': 'GABARAPL1', 'score': 10.05}, {'connected_gene': 'LOC105369660', 'score': 0.77}, {'connected_gene': 'GC12P010619', 'score': 0.15}]
chr12 GH12I011169 11169951 11172931 2.04 [{'connected_gene': 'PRR4', 'score': 586.29}, {'connected_gene': 'TAS2R14', 'score': 580.59}, {'connected_gene': 'PRH1-PRR4', 'score': 550.77}, {'connected_gene': 'SMIM10L1', 'score': 550.77}, {'connected_gene': 'PRH1', 'score': 550.77}, {'connected_gene': 'ENSG00000256712', 'score': 550.77}, {'connected_gene': 'ENSG00000275778', 'score': 550.77}, {'connected_gene': 'LINC01252', 'score': 53.08}, {'connected_gene': 'TAS2R64P', 'score': 45.75}, {'connected_gene': 'TAS2R15P', 'score': 38.39}, {'connected_gene': 'KLRA1P', 'score': 20.19}, {'connected_gene': 'TAS2R31', 'score': 19.11}, {'connected_gene': 'TAS2R19', 'score': 11.29}, {'connected_gene': 'TAS2R10', 'score': 10.22}, {'connected_gene': 'MAGOHB', 'score': 9.89}]
chr12 GH12I010672 10672079 10673268 0.69 [{'connected_gene': 'STYK1', 'score': 550.77}, {'connected_gene': 'MAGOHB', 'score': 20.95}, {'connected_gene': 'TAS2R14', 'score': 15.22}, {'connected_gene': 'KLRA1P', 'score': 11.66}, {'connected_gene': 'TAS2R15P', 'score': 11.66}, {'connected_gene': 'TAS2R64P', 'score': 11.14}, {'connected_gene': 'TAS2R31', 'score': 9.99}, {'connected_gene': 'ENSG00000255958', 'score': 9.84}, {'connected_gene': 'GABARAPL1', 'score': 9.84}, {'connected_gene': 'KLRK1', 'score': 4.56}, {'connected_gene': 'GC12P010619', 'score': 0.23}]
chr12 GH12I010636 10636088 10637108 0.31 [{'connected_gene': 'STYK1', 'score': 11.48}, {'connected_gene': 'MAGOHB', 'score': 10.44}, {'connected_gene': 'ENSG00000255958', 'score': 9.81}, {'connected_gene': 'GABARAPL1', 'score': 9.81}, {'connected_gene': 'GC12P010619', 'score': 0.37}]
chr12 GH12I010640 10640385 10642489 1.09 [{'connected_gene': 'STYK1', 'score': 561.51}, {'connected_gene': 'MAGOHB', 'score': 10.18}, {'connected_gene': 'ENSG00000255958', 'score': 9.82}, {'connected_gene': 'GABARAPL1', 'score': 9.82}, {'connected_gene': 'GC12P010619', 'score': 0.34}]
chr12 GH12I010708 10708442 10710163 0.4 [{'connected_gene': 'STYK1', 'score': 11.48}, {'connected_gene': 'GABARAPL1', 'score': 10.45}, {'connected_gene': 'ENSG00000255958', 'score': 10.45}, {'connected_gene': 'YBX3', 'score': 10.45}, {'connected_gene': 'MAGOHB', 'score': 10.41}, {'connected_gene': 'KLRC1', 'score': 9.13}, {'connected_gene': 'LOC105369660', 'score': 0.39}, {'connected_gene': 'GC12P010619', 'score': 0.17}]
chr12 GH12I010705 10705027 10706973 0.31 [{'connected_gene': 'STYK1', 'score': 11.48}, {'connected_gene': 'ENSG00000255958', 'score': 10.45}, {'connected_gene': 'GABARAPL1', 'score': 10.45}, {'connected_gene': 'YBX3', 'score': 10.42}, {'connected_gene': 'MAGOHB', 'score': 10.42}, {'connected_gene': 'KLRC1', 'score': 9.13}, {'connected_gene': 'LOC105369660', 'score': 0.37}, {'connected_gene': 'GC12P010619', 'score': 0.17}]
chr12 GH12I010701 10701104 10701839 0.31 [{'connected_gene': 'STYK1', 'score': 11.5}, {'connected_gene': 'ENSG00000255958', 'score': 10.45}, {'connected_gene': 'GABARAPL1', 'score': 10.45}, {'connected_gene': 'MAGOHB', 'score': 10.42}, {'connected_gene': 'YBX3', 'score': 9.72}, {'connected_gene': 'KLRC1', 'score': 9.13}, {'connected_gene': 'LOC105369660', 'score': 0.34}, {'connected_gene': 'GC12P010619', 'score': 0.18}]
chr12 GH12I010602 10602862 10602911 0.31 [{'connected_gene': 'STYK1', 'score': 11.24}, {'connected_gene': 'ENSG00000255958', 'score': 10.27}, {'connected_gene': 'GABARAPL1', 'score': 10.26}, {'connected_gene': 'KLRA1P', 'score': 0.77}, {'connected_gene': 'MAGOHB', 'score': 0.39}]
chr12 GH12I010673 10673374 10674911 1.93 [{'connected_gene': 'STYK1', 'score': 550.77}, {'connected_gene': 'KLRA1P', 'score': 21.72}, {'connected_gene': 'MAGOHB', 'score': 15.09}, {'connected_gene': 'TAS2R20', 'score': 14.2}, {'connected_gene': 'TAS2R14', 'score': 11.7}, {'connected_gene': 'LOC101928100', 'score': 5.43}, {'connected_gene': 'GC12P010619', 'score': 0.23}]
chr12 GH12I010668 10668162 10669649 0.51 [{'connected_gene': 'MAGOHB', 'score': 11.09}, {'connected_gene': 'GABARAPL1', 'score': 9.84}, {'connected_gene': 'ENSG00000255958', 'score': 9.84}, {'connected_gene': 'STYK1', 'score': 0.44}, {'connected_gene': 'GC12P010619', 'score': 0.25}]
chr12 GH12I010611 10611883 10614807 2.1 [{'connected_gene': 'MAGOHB', 'score': 550.77}, {'connected_gene': 'ENSG00000213443', 'score': 25.18}, {'connected_gene': 'KLRA1P', 'score': 22.3}, {'connected_gene': 'EIF2S3B', 'score': 21.59}, {'connected_gene': 'TAS2R43', 'score': 19.86}, {'connected_gene': 'TAS2R50', 'score': 18.94}, {'connected_gene': 'ENSG00000257027', 'score': 12.12}, {'connected_gene': 'ENSG00000256682', 'score': 11.21}, {'connected_gene': 'STYK1', 'score': 10.94}, {'connected_gene': 'CLEC2D', 'score': 10.82}, {'connected_gene': 'CLEC7A', 'score': 10.73}, {'connected_gene': 'LOC374443', 'score': 10.61}, {'connected_gene': 'ENSG00000256981', 'score': 10.25}, {'connected_gene': 'ENSG00000255958', 'score': 10.11}, {'connected_gene': 'GABARAPL1', 'score': 10.11}, {'connected_gene': 'KLRC3', 'score': 6.16}, {'connected_gene': 'KLRC2', 'score': 5.64}, {'connected_gene': 'KLRK1', 'score': 4.38}]
chr12 GH12I009829 9829897 9830209 0.69 [{'connected_gene': 'KLRF1', 'score': 34.83}, {'connected_gene': 'KLRD1', 'score': 26.67}, {'connected_gene': 'MAGOHB', 'score': 13.08}, {'connected_gene': 'TAS2R10', 'score': 11.48}, {'connected_gene': 'CLEC12A', 'score': 10.71}, {'connected_gene': 'CLEC12A-AS1', 'score': 10.71}, {'connected_gene': 'KLRB1', 'score': 8.76}, {'connected_gene': 'CD69', 'score': 4.6}, {'connected_gene': 'ENSG00000255882', 'score': 0.28}]
chr12 GH12I010235 10235882 10236031 0.63 [{'connected_gene': 'TAS2R14', 'score': 15.21}, {'connected_gene': 'TAS2R15P', 'score': 11.63}, {'connected_gene': 'KLRA1P', 'score': 11.52}, {'connected_gene': 'TAS2R64P', 'score': 11.12}, {'connected_gene': 'TAS2R31', 'score': 9.96}, {'connected_gene': 'MAGOHB', 'score': 9.91}, {'connected_gene': 'KLRC1', 'score': 9.9}, {'connected_gene': 'KLRD1', 'score': 0.44}, {'connected_gene': 'LOC105369656', 'score': 0.22}]
chr12 GH12I010384 10384902 10389974 1.74 [{'connected_gene': 'KLRK1', 'score': 562.02}, {'connected_gene': 'GC12P010386', 'score': 550.77}, {'connected_gene': 'TAS2R19', 'score': 54.32}, {'connected_gene': 'TAS2R31', 'score': 46.99}, {'connected_gene': 'TAS2R14', 'score': 45.36}, {'connected_gene': 'TAS2R10', 'score': 38.79}, {'connected_gene': 'KLRA1P', 'score': 38.16}, {'connected_gene': 'TAS2R15P', 'score': 37.29}, {'connected_gene': 'MAGOHB', 'score': 37.09}, {'connected_gene': 'TAS2R20', 'score': 25.46}, {'connected_gene': 'KLRC3', 'score': 17.07}, {'connected_gene': 'LOC101928100', 'score': 14.87}, {'connected_gene': 'KLRC4', 'score': 14.33}, {'connected_gene': 'KLRC4-KLRK1', 'score': 13.35}, {'connected_gene': 'KLRC1', 'score': 10.33}, {'connected_gene': 'KLRC2', 'score': 10.1}, {'connected_gene': 'TAS2R43', 'score': 9.92}, {'connected_gene': 'ENSG00000255958', 'score': 9.72}, {'connected_gene': 'GABARAPL1', 'score': 9.72}]
chr12 GH12I010391 10391061 10398505 1.65 [{'connected_gene': 'KLRK1', 'score': 26.47}, {'connected_gene': 'KLRA1P', 'score': 24.92}, {'connected_gene': 'KLRC3', 'score': 19.85}, {'connected_gene': 'KLRC4', 'score': 17.28}, {'connected_gene': 'KLRC2', 'score': 15.99}, {'connected_gene': 'LOC101928100', 'score': 15.74}, {'connected_gene': 'TAS2R31', 'score': 15.34}, {'connected_gene': 'TAS2R20', 'score': 13.57}, {'connected_gene': 'MAGOHB', 'score': 12.21}, {'connected_gene': 'TAS2R10', 'score': 11.98}, {'connected_gene': 'TAS2R19', 'score': 10.43}, {'connected_gene': 'KLRC1', 'score': 10.42}, {'connected_gene': 'KLRD1', 'score': 8.54}, {'connected_gene': 'KLRC4-KLRK1', 'score': 6.54}, {'connected_gene': 'GC12P010386', 'score': 0.44}]
chr12 GH12I009707 9707450 9709040 1.04 [{'connected_gene': 'CLECL1', 'score': 30.29}, {'connected_gene': 'PHC1', 'score': 17.83}, {'connected_gene': 'KLRA1P', 'score': 14.06}, {'connected_gene': 'KLRB1', 'score': 10.34}, {'connected_gene': 'MAGOHB', 'score': 9.88}, {'connected_gene': 'LOC374443', 'score': 6.64}, {'connected_gene': 'LINC02390', 'score': 0.77}, {'connected_gene': 'GC12P009754', 'score': 0.39}]
chr12 GH12I010601 10601142 10601291 0.31 [{'connected_gene': 'KLRA1P', 'score': 550.77}, {'connected_gene': 'STYK1', 'score': 10.69}, {'connected_gene': 'ENSG00000255958', 'score': 9.67}, {'connected_gene': 'GABARAPL1', 'score': 9.67}, {'connected_gene': 'KLRC1', 'score': 9.66}, {'connected_gene': 'KLRC3', 'score': 7.11}, {'connected_gene': 'MAGOHB', 'score': 0.39}]
chr12 GH12I009645 9645261 9645911 0.69 [{'connected_gene': 'KLRA1P', 'score': 17.79}, {'connected_gene': 'MAGOHB', 'score': 14.9}, {'connected_gene': 'PHC1', 'score': 12.35}, {'connected_gene': 'CLECL1', 'score': 11.31}, {'connected_gene': 'LOC642846', 'score': 10.45}, {'connected_gene': 'KLRB1', 'score': 10.43}, {'connected_gene': 'ENSG00000214776', 'score': 7.22}, {'connected_gene': 'ENSG00000272917', 'score': 0.77}, {'connected_gene': 'LOC105369728', 'score': 0.44}, {'connected_gene': 'LOC374443', 'score': 0.31}, {'connected_gene': 'ENSG00000284634', 'score': 0.08}]
chr12 GH12I010100 10100562 10102984 0.66 [{'connected_gene': 'GC12P010105', 'score': 550.77}, {'connected_gene': 'CLEC7A', 'score': 18.32}, {'connected_gene': 'LINC02470', 'score': 5.69}, {'connected_gene': 'CLEC1A', 'score': 5.1}, {'connected_gene': 'MAGOHB', 'score': 4.78}, {'connected_gene': 'RN7SKP161', 'score': 0.37}]
chr12 GH12I010617 10617471 10619805 0.75 [{'connected_gene': 'GC12P010619', 'score': 550.77}, {'connected_gene': 'STYK1', 'score': 16.65}, {'connected_gene': 'ENSG00000255958', 'score': 9.66}, {'connected_gene': 'GABARAPL1', 'score': 9.66}, {'connected_gene': 'MAGOHB', 'score': 0.44}]

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