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
ENST00000603276 [[75470556, 75470671], [75495662, 75495791], [75501232, 75501340], [75501705, 75501776], [75507372, 75507577], [75508202, 75508321]] [[75501255, 75501340], [75501705, 75501776], [75507372, 75507577], [75508202, 75508321]]
ENST00000604935 [[75479575, 75479704], [75495662, 75495791], [75501232, 75501340], [75501705, 75501776], [75507372, 75507553]] [[75501255, 75501340], [75501705, 75501776], [75507372, 75507553]]
ENST00000228027 [[75479776, 75480157], [75495662, 75495791], [75501232, 75501340], [75501705, 75501776], [75507372, 75507577], [75508202, 75508377], [75509271, 75509474], [75511398, 75512579]] [[75480036, 75480157], [75495662, 75495791], [75501232, 75501340], [75501705, 75501776], [75507372, 75507577], [75508202, 75508377], [75509271, 75509474], [75511398, 75511553]]
ENST00000376262 [[75479898, 75480157], [75501232, 75501340], [75501705, 75501776], [75507372, 75507577], [75508202, 75508377], [75509271, 75509474], [75511398, 75512579]] [[75480036, 75480157], [75501232, 75501340], [75501705, 75501776], [75507372, 75507577], [75508202, 75508377], [75509271, 75509474], [75511398, 75511553]]
ENST00000604733 [[75480045, 75480157], [75501232, 75501340], [75501705, 75501776], [75507372, 75507577], [75508202, 75508377], [75509271, 75509474], [75511398, 75511409]] [[75480045, 75480157], [75501232, 75501340], [75501705, 75501776], [75507372, 75507577], [75508202, 75508377], [75509271, 75509474], [75511398, 75511409]]
ENST00000605099 [[75495440, 75495532], [75495662, 75495791], [75501232, 75501340], [75501705, 75501776], [75507372, 75507556]] [[75501255, 75501340], [75501705, 75501776], [75507372, 75507556]]
ENST00000605608 [[75479843, 75480157], [75484766, 75485087]] None
ENST00000603363 [[75503203, 75507577], [75508202, 75508377], [75509271, 75509474], [75511398, 75512572]] None
ENST00000603865 [[75506181, 75508377], [75509271, 75509474], [75511398, 75511677]] None
NM_001253891 [[75479777, 75480157], [75501232, 75501340], [75501705, 75501776], [75507372, 75507577], [75508202, 75508377], [75509271, 75509474], [75511398, 75512581]] [[75480036, 75480157], [75501232, 75501340], [75501705, 75501776], [75507372, 75507577], [75508202, 75508377], [75509271, 75509474], [75511398, 75511553]]
NM_032564 [[75479777, 75480157], [75495662, 75495791], [75501232, 75501340], [75501705, 75501776], [75507372, 75507577], [75508202, 75508377], [75509271, 75509474], [75511398, 75512581]] [[75480036, 75480157], [75495662, 75495791], [75501232, 75501340], [75501705, 75501776], [75507372, 75507577], [75508202, 75508377], [75509271, 75509474], [75511398, 75511553]]
Promoter
Chrom Start End Description
chr11 75479763 75479780 CAGE_peak_3_at_DGAT2_5end
chr11 75479781 75479808 CAGE_peak_2_at_DGAT2_5end
chr11 75479814 75479833 CAGE_peak_1_at_DGAT2_5end
chr11 75479850 75479861 CAGE_peak_4_at_DGAT2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I075781 75781434 75784381 0.89 [{'connected_gene': 'DGAT2', 'score': 17.74}, {'connected_gene': 'MOGAT2', 'score': 10.68}, {'connected_gene': 'SERPINH1', 'score': 10.44}, {'connected_gene': 'ENSG00000254826', 'score': 0.44}, {'connected_gene': 'ENSG00000254814', 'score': 0.34}]
chr11 GH11I075771 75771596 75772050 0.84 [{'connected_gene': 'DGAT2', 'score': 14.15}, {'connected_gene': 'ENSG00000254814', 'score': 11.81}, {'connected_gene': 'MOGAT2', 'score': 11.51}, {'connected_gene': 'UVRAG', 'score': 5.21}, {'connected_gene': 'ENSG00000254826', 'score': 0.77}, {'connected_gene': 'LOC283214', 'score': 0.77}]
chr11 GH11I075820 75820401 75828153 1.47 [{'connected_gene': 'DGAT2', 'score': 22.77}, {'connected_gene': 'ENSG00000254814', 'score': 12.47}, {'connected_gene': 'MOGAT2', 'score': 10.7}, {'connected_gene': 'THAP12', 'score': 5.44}, {'connected_gene': 'UVRAG', 'score': 3.67}, {'connected_gene': 'ARRB1', 'score': 1.43}, {'connected_gene': 'LOC100506113', 'score': 0.44}, {'connected_gene': 'GC11M075836', 'score': 0.39}, {'connected_gene': 'ENSG00000200256', 'score': 0.39}]
chr11 GH11I075838 75838199 75842363 0.59 [{'connected_gene': 'DGAT2', 'score': 18.66}, {'connected_gene': 'ENSG00000254814', 'score': 11.92}, {'connected_gene': 'ENSG00000255421', 'score': 10.96}, {'connected_gene': 'MOGAT2', 'score': 10.59}, {'connected_gene': 'GVQW3', 'score': 5.71}, {'connected_gene': 'GC11M075838', 'score': 0.77}, {'connected_gene': 'ENSG00000199362', 'score': 0.77}, {'connected_gene': 'UVRAG', 'score': 0.31}, {'connected_gene': 'PPP1R1AP1', 'score': 0.19}]
chr11 GH11I075785 75785439 75787593 0.83 [{'connected_gene': 'DGAT2', 'score': 21.14}, {'connected_gene': 'ENSG00000255421', 'score': 10.95}, {'connected_gene': 'MOGAT2', 'score': 10.65}, {'connected_gene': 'ENSG00000254826', 'score': 0.39}, {'connected_gene': 'ENSG00000254814', 'score': 0.37}]
chr11 GH11I075819 75819356 75819600 0.78 [{'connected_gene': 'DGAT2', 'score': 7.47}, {'connected_gene': 'UVRAG', 'score': 0.77}, {'connected_gene': 'LOC100506113', 'score': 0.77}, {'connected_gene': 'GC11M075836', 'score': 0.37}, {'connected_gene': 'ENSG00000200256', 'score': 0.37}]
chr11 GH11I075810 75810138 75811400 1.04 [{'connected_gene': 'DGAT2', 'score': 8.03}, {'connected_gene': 'UVRAG', 'score': 0.77}, {'connected_gene': 'LOC100506113', 'score': 0.77}, {'connected_gene': 'ENSG00000254814', 'score': 0.44}]
chr11 GH11I075828 75828775 75831135 0.2 [{'connected_gene': 'DGAT2', 'score': 21.7}, {'connected_gene': 'ENSG00000254814', 'score': 12.5}, {'connected_gene': 'GC11M075836', 'score': 0.44}, {'connected_gene': 'ENSG00000200256', 'score': 0.44}, {'connected_gene': 'UVRAG', 'score': 0.39}, {'connected_gene': 'LOC100506113', 'score': 0.39}]
chr11 GH11I075780 75780209 75780397 0.39 [{'connected_gene': 'DGAT2', 'score': 19.22}, {'connected_gene': 'ENSG00000254814', 'score': 11.96}, {'connected_gene': 'UVRAG', 'score': 2.02}, {'connected_gene': 'ENSG00000254826', 'score': 0.77}]
chr11 GH11I075762 75762496 75763631 1.29 [{'connected_gene': 'DGAT2', 'score': 9.43}, {'connected_gene': 'LOC283214', 'score': 0.44}]
chr11 GH11I075732 75732050 75737528 0.99 [{'connected_gene': 'DGAT2', 'score': 11.29}, {'connected_gene': 'GC11P075731', 'score': 0.77}, {'connected_gene': 'LOC105369393', 'score': 0.44}, {'connected_gene': 'MOGAT2', 'score': 0.37}]
chr11 GH11I075712 75712550 75713792 0.2 [{'connected_gene': 'DGAT2', 'score': 10.86}, {'connected_gene': 'LOC105369391', 'score': 7.58}, {'connected_gene': 'MOGAT2', 'score': 0.77}, {'connected_gene': 'LOC105369392', 'score': 0.44}, {'connected_gene': 'MAP6', 'score': 0.26}]
chr11 GH11I075924 75924545 75927413 0.63 [{'connected_gene': 'DGAT2', 'score': 4.46}, {'connected_gene': 'RNA5SP344', 'score': 0.44}, {'connected_gene': 'ENSG00000255081', 'score': 0.39}, {'connected_gene': 'UVRAG', 'score': 0.14}]
chr11 GH11I075790 75790245 75796748 0.85 [{'connected_gene': 'MOGAT2', 'score': 11.33}, {'connected_gene': 'DGAT2', 'score': 8.98}, {'connected_gene': 'ENSG00000254814', 'score': 0.44}, {'connected_gene': 'ENSG00000254826', 'score': 0.37}]
chr11 GH11I076146 76146642 76149839 0.94 [{'connected_gene': 'WNT11', 'score': 11.47}, {'connected_gene': 'DGAT2', 'score': 10.81}, {'connected_gene': 'ENSG00000254814', 'score': 10.81}, {'connected_gene': 'MOGAT2', 'score': 10.43}, {'connected_gene': 'UVRAG', 'score': 5.49}, {'connected_gene': 'LOC100506113', 'score': 4.8}, {'connected_gene': 'ENSG00000255421', 'score': 0.39}, {'connected_gene': 'GC11P076191', 'score': 0.26}]
chr11 GH11I075812 75812078 75818322 2.29 [{'connected_gene': 'UVRAG', 'score': 550.77}, {'connected_gene': 'LOC100506113', 'score': 550.77}, {'connected_gene': 'XRRA1', 'score': 14.0}, {'connected_gene': 'THAP12', 'score': 10.64}, {'connected_gene': 'NEU3', 'score': 10.07}, {'connected_gene': 'EMSY', 'score': 9.96}, {'connected_gene': 'DGAT2', 'score': 8.02}, {'connected_gene': 'LOC105369391', 'score': 4.81}]
chr11 GH11I075273 75273760 75279052 1.1 [{'connected_gene': 'ARRB1', 'score': 20.47}, {'connected_gene': 'MIR326', 'score': 11.52}, {'connected_gene': 'DGAT2', 'score': 10.67}, {'connected_gene': 'ENSG00000254963', 'score': 0.39}, {'connected_gene': 'GC11M075326', 'score': 0.23}]
chr11 GH11I075327 75327294 75353678 2.83 [{'connected_gene': 'ARRB1', 'score': 561.78}, {'connected_gene': 'POLD3', 'score': 27.02}, {'connected_gene': 'GDPD5', 'score': 14.11}, {'connected_gene': 'SNORD15B', 'score': 10.76}, {'connected_gene': 'KLHL35', 'score': 10.37}, {'connected_gene': 'XRRA1', 'score': 10.15}, {'connected_gene': 'RNF169', 'score': 9.85}, {'connected_gene': 'NEU3', 'score': 6.23}, {'connected_gene': 'RPS3', 'score': 5.72}, {'connected_gene': 'ENSG00000254974', 'score': 4.77}, {'connected_gene': 'UVRAG', 'score': 3.32}, {'connected_gene': 'SPCS2', 'score': 2.35}, {'connected_gene': 'DGAT2', 'score': 1.66}, {'connected_gene': 'MIR326', 'score': 0.44}, {'connected_gene': 'PIR38786', 'score': 0.39}, {'connected_gene': 'GC11M075328', 'score': 0.39}, {'connected_gene': 'GC11M075327', 'score': 0.39}]
chr11 GH11I075767 75767895 75769835 2.25 [{'connected_gene': 'LOC283214', 'score': 550.77}, {'connected_gene': 'DGAT2', 'score': 550.44}, {'connected_gene': 'RPS3', 'score': 25.09}, {'connected_gene': 'EMSY', 'score': 23.4}, {'connected_gene': 'SERPINH1', 'score': 21.42}, {'connected_gene': 'SNORD15B', 'score': 12.39}, {'connected_gene': 'MOGAT2', 'score': 11.07}, {'connected_gene': 'RN7SL239P', 'score': 10.23}, {'connected_gene': 'ENSG00000255363', 'score': 10.03}, {'connected_gene': 'ENSG00000254826', 'score': 0.44}]
chr11 GH11I075689 75689366 75690965 1.14 [{'connected_gene': 'LOC105369391', 'score': 17.32}, {'connected_gene': 'MOGAT2', 'score': 11.46}, {'connected_gene': 'DGAT2', 'score': 10.9}, {'connected_gene': 'SERPINH1', 'score': 10.38}, {'connected_gene': 'MAP6', 'score': 7.17}, {'connected_gene': 'UVRAG', 'score': 1.51}]
chr11 GH11I075597 75597756 75597885 0.62 [{'connected_gene': 'ENSG00000255434', 'score': 550.77}, {'connected_gene': 'SERPINH1', 'score': 11.56}, {'connected_gene': 'DGAT2', 'score': 9.74}, {'connected_gene': 'GDPD5', 'score': 9.68}, {'connected_gene': 'LOC105369391', 'score': 0.39}, {'connected_gene': 'ENSG00000254630', 'score': 0.26}, {'connected_gene': 'MAP6', 'score': 0.19}]
chr11 GH11I075867 75867856 75868045 0.83 [{'connected_gene': 'ENSG00000254814', 'score': 12.0}, {'connected_gene': 'DGAT2', 'score': 11.93}, {'connected_gene': 'GC11M075838', 'score': 0.29}, {'connected_gene': 'ENSG00000199362', 'score': 0.29}, {'connected_gene': 'PPP1R1AP1', 'score': 0.26}, {'connected_gene': 'UVRAG', 'score': 0.23}]
chr11 GH11I075896 75896957 75897106 0.74 [{'connected_gene': 'ENSG00000255421', 'score': 11.96}, {'connected_gene': 'ENSG00000254814', 'score': 11.67}, {'connected_gene': 'DGAT2', 'score': 11.63}, {'connected_gene': 'ENSG00000254933', 'score': 11.01}, {'connected_gene': 'MOGAT2', 'score': 10.11}, {'connected_gene': 'PPP1R1AP1', 'score': 0.39}, {'connected_gene': 'GC11M075838', 'score': 0.22}, {'connected_gene': 'ENSG00000199362', 'score': 0.22}, {'connected_gene': 'UVRAG', 'score': 0.18}]
chr11 GH11I075860 75860589 75864306 0.57 [{'connected_gene': 'ENSG00000254814', 'score': 12.37}, {'connected_gene': 'DGAT2', 'score': 12.3}, {'connected_gene': 'MOGAT2', 'score': 10.12}, {'connected_gene': 'GC11M075838', 'score': 0.34}, {'connected_gene': 'ENSG00000199362', 'score': 0.34}, {'connected_gene': 'UVRAG', 'score': 0.25}, {'connected_gene': 'PPP1R1AP1', 'score': 0.25}]
chr11 GH11I075836 75836401 75836600 0.51 [{'connected_gene': 'GC11M075838', 'score': 550.77}, {'connected_gene': 'GC11M075836', 'score': 550.77}, {'connected_gene': 'ENSG00000199362', 'score': 550.77}, {'connected_gene': 'ENSG00000200256', 'score': 550.77}, {'connected_gene': 'DGAT2', 'score': 16.4}, {'connected_gene': 'ENSG00000254814', 'score': 11.27}, {'connected_gene': 'MOGAT2', 'score': 9.51}, {'connected_gene': 'UVRAG', 'score': 0.34}]
chr11 GH11I075772 75772155 75774387 1.05 [{'connected_gene': 'ENSG00000254814', 'score': 11.81}, {'connected_gene': 'DGAT2', 'score': 11.74}, {'connected_gene': 'MOGAT2', 'score': 11.5}, {'connected_gene': 'ENSG00000254826', 'score': 0.77}, {'connected_gene': 'LOC283214', 'score': 0.77}]
chr11 GH11I076152 76152001 76154286 1.37 [{'connected_gene': 'ENSG00000254814', 'score': 11.53}, {'connected_gene': 'DGAT2', 'score': 11.53}, {'connected_gene': 'WNT11', 'score': 11.47}, {'connected_gene': 'EMSY', 'score': 10.87}, {'connected_gene': 'MOGAT2', 'score': 10.43}, {'connected_gene': 'SNORD15B', 'score': 9.87}, {'connected_gene': 'ENSG00000254429', 'score': 4.21}, {'connected_gene': 'ENSG00000255421', 'score': 0.37}, {'connected_gene': 'GC11P076191', 'score': 0.28}]
chr11 GH11I075850 75850801 75851401 0.69 [{'connected_gene': 'ENSG00000254814', 'score': 11.89}, {'connected_gene': 'DGAT2', 'score': 11.81}, {'connected_gene': 'GC11M075838', 'score': 0.39}, {'connected_gene': 'ENSG00000199362', 'score': 0.39}, {'connected_gene': 'UVRAG', 'score': 0.28}, {'connected_gene': 'PPP1R1AP1', 'score': 0.21}]
chr11 GH11I075872 75872549 75874526 1.09 [{'connected_gene': 'ENSG00000254814', 'score': 11.98}, {'connected_gene': 'DGAT2', 'score': 11.92}, {'connected_gene': 'UVRAG', 'score': 4.86}, {'connected_gene': 'GC11M075838', 'score': 0.28}, {'connected_gene': 'PPP1R1AP1', 'score': 0.28}, {'connected_gene': 'ENSG00000199362', 'score': 0.28}]
chr11 GH11I075803 75803336 75803505 0.95 [{'connected_gene': 'ENSG00000254814', 'score': 550.77}, {'connected_gene': 'DGAT2', 'score': 7.22}, {'connected_gene': 'UVRAG', 'score': 0.39}, {'connected_gene': 'LOC100506113', 'score': 0.39}]
chr11 GH11I075870 75870136 75870381 0.42 [{'connected_gene': 'ENSG00000254814', 'score': 11.99}, {'connected_gene': 'DGAT2', 'score': 11.92}, {'connected_gene': 'MAP6', 'score': 2.94}, {'connected_gene': 'GC11M075838', 'score': 0.29}, {'connected_gene': 'ENSG00000199362', 'score': 0.29}, {'connected_gene': 'PPP1R1AP1', 'score': 0.26}, {'connected_gene': 'UVRAG', 'score': 0.22}]
chr11 GH11I075796 75796794 75798316 0.38 [{'connected_gene': 'ENSG00000254814', 'score': 0.44}, {'connected_gene': 'ENSG00000254826', 'score': 0.34}, {'connected_gene': 'DGAT2', 'score': 0.28}]
chr11 GH11I075777 75777401 75778632 0.72 [{'connected_gene': 'ENSG00000254814', 'score': 11.94}, {'connected_gene': 'MOGAT2', 'score': 11.48}, {'connected_gene': 'DGAT2', 'score': 9.99}, {'connected_gene': 'ENSG00000254826', 'score': 0.77}]
chr11 GH11I075742 75742752 75744613 0.85 [{'connected_gene': 'GC11P075745', 'score': 550.77}, {'connected_gene': 'RN7SL786P', 'score': 550.77}, {'connected_gene': 'DGAT2', 'score': 8.07}]
chr11 GH11I075800 75800853 75801025 0.49 [{'connected_gene': 'ENSG00000254814', 'score': 0.77}, {'connected_gene': 'LOC100506113', 'score': 0.39}, {'connected_gene': 'ENSG00000254826', 'score': 0.31}, {'connected_gene': 'DGAT2', 'score': 0.26}]
chr11 GH11I075801 75801116 75801265 0.76 [{'connected_gene': 'ENSG00000254814', 'score': 0.77}, {'connected_gene': 'LOC100506113', 'score': 0.39}, {'connected_gene': 'ENSG00000254826', 'score': 0.31}, {'connected_gene': 'DGAT2', 'score': 0.26}]

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