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
ENST00000336418 [[90373830, 90378875], [90380846, 90380954], [90414706, 90414778], [90431752, 90431864], [90432280, 90432372], [90437112, 90437574]] [[90378746, 90378875], [90380846, 90380954], [90414706, 90414778], [90431752, 90431864], [90432280, 90432372], [90437112, 90437181]]
ENST00000423566 [[90378213, 90378875], [90380846, 90380954], [90414706, 90414778], [90420537, 90420656], [90431752, 90431864], [90432280, 90432372], [90437112, 90437209]] [[90420554, 90420656], [90431752, 90431864], [90432280, 90432372], [90437112, 90437181]]
ENST00000558926 [[90378655, 90378875], [90380846, 90381186]] None
ENST00000558011 [[90378671, 90378875], [90380846, 90380954], [90414706, 90414778], [90421496, 90421532], [90431752, 90431864], [90432280, 90432372], [90437112, 90437226]] [[90378746, 90378875], [90380846, 90380954], [90414706, 90414778], [90421496, 90421532], [90431752, 90431864], [90432280, 90432372], [90437112, 90437181]]
ENST00000560940 [[90378711, 90378745], [90380846, 90380954], [90414706, 90414778], [90431752, 90431864], [90432280, 90432372], [90437112, 90437213]] [[90378727, 90378745], [90380846, 90380954], [90414706, 90414778], [90431752, 90431864], [90432280, 90432372], [90437112, 90437181]]
ENST00000560771 [[90378797, 90378875], [90380846, 90380954], [90381260, 90381358], [90388550, 90389006]] None
ENST00000557999 [[90378799, 90378875], [90380846, 90380954], [90414706, 90414778], [90431752, 90431864], [90432280, 90432372], [90437108, 90437226]] [[90432310, 90432372], [90437108, 90437181]]
ENST00000558806 [[90378825, 90378875], [90380846, 90380954], [90414706, 90414778], [90431752, 90431864], [90432280, 90432368], [90437112, 90437260]] [[90432326, 90432368], [90437112, 90437181]]
ENST00000561410 [[90378828, 90378875], [90380846, 90380954], [90391824, 90392239]] None
ENST00000559162 [[90378831, 90378875], [90380846, 90380954], [90414706, 90414778], [90431752, 90431885]] None
ENST00000558999 [[90380846, 90380954], [90414706, 90414778], [90420537, 90420656], [90421496, 90421532], [90431752, 90431864], [90432280, 90432372], [90437112, 90437226]] [[90420554, 90420656], [90421496, 90421532], [90431752, 90431864], [90432280, 90432372], [90437112, 90437181]]
ENST00000558186 [[90380849, 90380954], [90395592, 90395888]] None
ENST00000560184 [[90408690, 90408925], [90414706, 90414778], [90431752, 90431864], [90432280, 90432372], [90437112, 90437202]] None
ENST00000560251 [[90408844, 90408925], [90414706, 90414778], [90420537, 90420656], [90431752, 90431864], [90432280, 90432372], [90437112, 90437209]] [[90420554, 90420656], [90431752, 90431864], [90432280, 90432372], [90437112, 90437181]]
ENST00000559601 [[90431748, 90431864], [90432280, 90432711]] None
NR_023361 [[90373830, 90378875], [90380846, 90380954], [90414706, 90414778], [90420537, 90420656], [90431752, 90431864], [90432280, 90432372], [90437112, 90437617]] None
NM_005829 [[90373830, 90378875], [90380846, 90380954], [90414706, 90414778], [90431752, 90431864], [90432280, 90432372], [90437112, 90437617]] [[90378746, 90378875], [90380846, 90380954], [90414706, 90414778], [90431752, 90431864], [90432280, 90432372], [90437112, 90437181]]
NR_037582 [[90373830, 90378875], [90380846, 90380954], [90414706, 90414778], [90431752, 90431864], [90432280, 90432368], [90437112, 90437617]] None
Promoter
Chrom Start End Description
chr15 90437164 90437175 CAGE_peak_2_at_AP3S2_5end
chr15 90437195 90437261 CAGE_peak_1_at_AP3S2_5end,CAGE_peak_1_at_C15orf38-AP3S2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I090018 90018202 90021599 1.49 [{'connected_gene': 'IQGAP1', 'score': 25.03}, {'connected_gene': 'ZNF710', 'score': 23.93}, {'connected_gene': 'MESP1', 'score': 9.88}, {'connected_gene': 'ANPEP', 'score': 2.69}, {'connected_gene': 'CIB1', 'score': 1.86}, {'connected_gene': 'AP3S2', 'score': 1.44}, {'connected_gene': 'ENSG00000273691', 'score': 0.44}, {'connected_gene': 'MIR3174', 'score': 0.39}]
chr15 GH15I089831 89831139 89831814 0.2 [{'connected_gene': 'MESP1', 'score': 10.76}, {'connected_gene': 'ANPEP', 'score': 10.0}, {'connected_gene': 'LOC105370965', 'score': 0.39}, {'connected_gene': 'MIR5094', 'score': 0.37}, {'connected_gene': 'AP3S2', 'score': 0.21}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.18}]
chr15 GH15I089841 89841266 89842434 0.43 [{'connected_gene': 'MESP1', 'score': 11.79}, {'connected_gene': 'MESP2', 'score': 11.73}, {'connected_gene': 'ANPEP', 'score': 10.2}, {'connected_gene': 'AP3S2', 'score': 5.23}, {'connected_gene': 'MIR5094', 'score': 0.44}, {'connected_gene': 'LOC105370965', 'score': 0.34}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.19}]
chr15 GH15I090056 90056441 90065999 1.71 [{'connected_gene': 'ZNF710', 'score': 26.62}, {'connected_gene': 'IQGAP1', 'score': 21.69}, {'connected_gene': 'POLG', 'score': 16.66}, {'connected_gene': 'UNC45A', 'score': 12.83}, {'connected_gene': 'LOC100631255', 'score': 12.25}, {'connected_gene': 'ENSG00000259314', 'score': 11.23}, {'connected_gene': 'IDH2', 'score': 11.03}, {'connected_gene': 'MESP1', 'score': 10.4}, {'connected_gene': 'ENSG00000228998', 'score': 4.87}, {'connected_gene': 'AP3S2', 'score': 3.06}, {'connected_gene': 'SEMA4B', 'score': 2.23}, {'connected_gene': 'CIB1', 'score': 2.21}, {'connected_gene': 'ANPEP', 'score': 1.99}, {'connected_gene': 'PIR55871', 'score': 0.44}, {'connected_gene': 'ENSG00000273691', 'score': 0.28}]
chr15 GH15I090028 90028134 90041799 1.75 [{'connected_gene': 'ZNF710', 'score': 19.95}, {'connected_gene': 'IQGAP1', 'score': 18.89}, {'connected_gene': 'VPS33B', 'score': 10.66}, {'connected_gene': 'AP3S2', 'score': 3.37}, {'connected_gene': 'SEMA4B', 'score': 2.22}, {'connected_gene': 'ANPEP', 'score': 1.46}, {'connected_gene': 'ENSG00000273691', 'score': 0.39}, {'connected_gene': 'PIR55871', 'score': 0.29}]
chr15 GH15I089974 89974401 89975278 0.97 [{'connected_gene': 'ZNF710', 'score': 16.33}, {'connected_gene': 'MESP1', 'score': 10.42}, {'connected_gene': 'NGRN', 'score': 9.25}, {'connected_gene': 'IQGAP1', 'score': 8.95}, {'connected_gene': 'AP3S2', 'score': 3.0}, {'connected_gene': 'SEMA4B', 'score': 1.44}, {'connected_gene': 'ENSG00000280377', 'score': 0.34}]
chr15 GH15I089811 89811681 89815856 2.41 [{'connected_gene': 'ANPEP', 'score': 578.58}, {'connected_gene': 'ZNF710', 'score': 6.57}, {'connected_gene': 'AP3S2', 'score': 6.53}, {'connected_gene': 'SEMA4B', 'score': 1.33}, {'connected_gene': 'POLG', 'score': 1.22}, {'connected_gene': 'MESP2', 'score': 0.23}]
chr15 GH15I089816 89816746 89818821 0.38 [{'connected_gene': 'ANPEP', 'score': 26.57}, {'connected_gene': 'AP3S2', 'score': 4.51}, {'connected_gene': 'LOC105370965', 'score': 0.77}]
chr15 GH15I089898 89898601 89899980 1.18 [{'connected_gene': 'RNU7-111P', 'score': 550.77}, {'connected_gene': 'GC15P089898', 'score': 550.77}, {'connected_gene': 'AP3S2', 'score': 57.33}, {'connected_gene': 'ANPEP', 'score': 5.67}, {'connected_gene': 'ARPIN', 'score': 2.39}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.39}]
chr15 GH15I089820 89820240 89825999 1.5 [{'connected_gene': 'LOC105370965', 'score': 550.77}, {'connected_gene': 'AP3S2', 'score': 51.71}, {'connected_gene': 'ANPEP', 'score': 25.31}, {'connected_gene': 'FANCI', 'score': 12.22}, {'connected_gene': 'MESP1', 'score': 10.71}, {'connected_gene': 'ZNF710', 'score': 9.68}, {'connected_gene': 'CIB1', 'score': 2.48}, {'connected_gene': 'POLG', 'score': 2.19}, {'connected_gene': 'SEMA4B', 'score': 1.16}, {'connected_gene': 'MIR5094', 'score': 0.31}]
chr15 GH15I089892 89892772 89895042 2.15 [{'connected_gene': 'AP3S2', 'score': 564.22}, {'connected_gene': 'POLG', 'score': 65.57}, {'connected_gene': 'ENSG00000259314', 'score': 42.43}, {'connected_gene': 'LOC100631255', 'score': 35.45}, {'connected_gene': 'NIFKP5', 'score': 29.49}, {'connected_gene': 'FANCI', 'score': 24.76}, {'connected_gene': 'ENSG00000259212', 'score': 22.82}, {'connected_gene': 'RPL36AP43', 'score': 22.75}, {'connected_gene': 'KIF7', 'score': 22.7}, {'connected_gene': 'ARPIN', 'score': 21.28}, {'connected_gene': 'WDR93', 'score': 13.56}, {'connected_gene': 'CRTC3', 'score': 12.9}, {'connected_gene': 'TICRR', 'score': 10.11}, {'connected_gene': 'MFGE8', 'score': 10.1}, {'connected_gene': 'GC15M089889', 'score': 0.44}, {'connected_gene': 'PIR40995', 'score': 0.44}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.37}]
chr15 GH15I089827 89827610 89829318 1.43 [{'connected_gene': 'AP3S2', 'score': 59.03}, {'connected_gene': 'ANPEP', 'score': 12.07}, {'connected_gene': 'MESP1', 'score': 10.77}, {'connected_gene': 'ZNF710', 'score': 5.06}, {'connected_gene': 'CIB1', 'score': 1.41}, {'connected_gene': 'LOC105370965', 'score': 0.44}, {'connected_gene': 'MIR5094', 'score': 0.34}]
chr15 GH15I089844 89844351 89846638 1.14 [{'connected_gene': 'AP3S2', 'score': 16.69}, {'connected_gene': 'ANPEP', 'score': 16.14}, {'connected_gene': 'MESP1', 'score': 11.79}, {'connected_gene': 'MESP2', 'score': 11.73}, {'connected_gene': 'MIR5094', 'score': 0.44}, {'connected_gene': 'LOC105370965', 'score': 0.34}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.2}]
chr15 GH15I089834 89834876 89838999 1 [{'connected_gene': 'AP3S2', 'score': 58.28}, {'connected_gene': 'ANPEP', 'score': 16.5}, {'connected_gene': 'MESP2', 'score': 11.95}, {'connected_gene': 'MESP1', 'score': 11.14}, {'connected_gene': 'MIR5094', 'score': 0.39}, {'connected_gene': 'LOC105370965', 'score': 0.37}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.18}]
chr15 GH15I089839 89839162 89840000 0.64 [{'connected_gene': 'AP3S2', 'score': 17.52}, {'connected_gene': 'MESP2', 'score': 11.95}, {'connected_gene': 'MESP1', 'score': 11.14}, {'connected_gene': 'ZNF710', 'score': 2.81}, {'connected_gene': 'CIB1', 'score': 1.44}, {'connected_gene': 'MIR5094', 'score': 0.39}, {'connected_gene': 'LOC105370965', 'score': 0.37}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.19}]
chr15 GH15I089855 89855935 89866501 1.08 [{'connected_gene': 'AP3S2', 'score': 72.79}, {'connected_gene': 'RNU6-1111P', 'score': 12.18}, {'connected_gene': 'RNU7-111P', 'score': 12.15}, {'connected_gene': 'C15orf38-AP3S2', 'score': 12.1}, {'connected_gene': 'ARPIN', 'score': 12.1}, {'connected_gene': 'MESP2', 'score': 11.8}, {'connected_gene': 'MESP1', 'score': 11.74}, {'connected_gene': 'ZNF710', 'score': 10.91}, {'connected_gene': 'PLIN1', 'score': 10.45}, {'connected_gene': 'ANPEP', 'score': 8.3}, {'connected_gene': 'MIR5094', 'score': 0.39}, {'connected_gene': 'LOC100631255', 'score': 0.39}]
chr15 GH15I089846 89846832 89853341 1.42 [{'connected_gene': 'MIR5094', 'score': 550.77}, {'connected_gene': 'AP3S2', 'score': 57.97}, {'connected_gene': 'MESP1', 'score': 11.78}, {'connected_gene': 'MESP2', 'score': 11.73}, {'connected_gene': 'ANPEP', 'score': 10.15}, {'connected_gene': 'PLIN1', 'score': 10.04}, {'connected_gene': 'WDR93', 'score': 5.39}, {'connected_gene': 'ZNF710', 'score': 5.05}, {'connected_gene': 'CIB1', 'score': 2.06}, {'connected_gene': 'LOC105370965', 'score': 0.31}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.21}]
chr15 GH15I089875 89875069 89875238 0.81 [{'connected_gene': 'LOC100631255', 'score': 550.77}, {'connected_gene': 'AP3S2', 'score': 62.19}, {'connected_gene': 'MESP1', 'score': 11.78}, {'connected_gene': 'GC15M089870', 'score': 0.39}, {'connected_gene': 'MIR5094', 'score': 0.34}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.28}]
chr15 GH15I089876 89875534 89877415 0.62 [{'connected_gene': 'LOC100631255', 'score': 550.77}, {'connected_gene': 'AP3S2', 'score': 16.87}, {'connected_gene': 'ZNF710', 'score': 16.21}, {'connected_gene': 'MESP1', 'score': 11.71}, {'connected_gene': 'PLIN1', 'score': 10.23}, {'connected_gene': 'SEMA4B', 'score': 1.53}, {'connected_gene': 'ANPEP', 'score': 1.37}, {'connected_gene': 'GC15P089882', 'score': 0.77}, {'connected_gene': 'GC15M089870', 'score': 0.39}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.28}]
chr15 GH15I089888 89888309 89888518 0.54 [{'connected_gene': 'GC15M089889', 'score': 550.77}, {'connected_gene': 'GC15M089887', 'score': 550.77}, {'connected_gene': 'GC15M089870', 'score': 550.77}, {'connected_gene': 'PIR40995', 'score': 550.77}, {'connected_gene': 'RNU6-1111P', 'score': 550.77}, {'connected_gene': 'AP3S2', 'score': 0.44}, {'connected_gene': 'C15orf38-AP3S2', 'score': 0.34}]

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