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
ENST00000432190 [[24612886, 24613212], [24663281, 24663403], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331]] [[24663286, 24663403], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331]]
ENST00000222644 [[24612964, 24613212], [24663284, 24663403], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331], [24703208, 24703340], [24705206, 24705306], [24705639, 24705708], [24708117, 24708279], [24718749, 24718952], [24720010, 24720139], [24727056, 24733812]] [[24663286, 24663403], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331], [24703208, 24703340], [24705206, 24705306], [24705639, 24705708], [24708117, 24708279], [24718749, 24718952], [24720010, 24720139], [24727056, 24727233]]
ENST00000409761 [[24613033, 24613212], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331], [24703208, 24703340], [24705206, 24705306], [24705639, 24705708], [24708117, 24708279], [24718749, 24718952], [24720010, 24720139], [24727056, 24727251]] [[24689296, 24689383], [24690103, 24690331], [24703208, 24703340], [24705206, 24705306], [24705639, 24705708], [24708117, 24708279], [24718749, 24718952], [24720010, 24720139], [24727056, 24727233]]
ENST00000396475 [[24613084, 24613212], [24659670, 24659839], [24663284, 24663403], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331], [24703208, 24703340], [24705206, 24705306], [24705639, 24705708], [24708117, 24708279], [24718749, 24718952], [24720010, 24720139], [24727056, 24729159]] [[24663286, 24663403], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331], [24703208, 24703340], [24705206, 24705306], [24705639, 24705708], [24708117, 24708279], [24718749, 24718952], [24720010, 24720139], [24727056, 24727233]]
ENST00000430180 [[24613631, 24613897], [24663284, 24663403], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331], [24703208, 24703340], [24705206, 24705306], [24705639, 24705679]] [[24663286, 24663403], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331], [24703208, 24703340], [24705206, 24705306], [24705639, 24705679]]
ENST00000426450 [[24636738, 24636810], [24659670, 24659839], [24663284, 24663403], [24663680, 24663775], [24681334, 24681431]] [[24663286, 24663403], [24663680, 24663689]]
ENST00000472674 [[24703092, 24703340], [24705206, 24705306], [24705639, 24705665]] None
ENST00000464384 [[24705301, 24705306], [24705639, 24705708], [24706483, 24706601], [24708117, 24708279], [24718749, 24718952], [24720010, 24720139], [24727056, 24727495]] [[24705301, 24705306], [24705639, 24705708], [24706483, 24706601], [24708117, 24708118]]
NM_001303037 [[24612964, 24613212], [24663284, 24663403], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331], [24703208, 24703340], [24705206, 24705306], [24705639, 24705708], [24708117, 24708279], [24718749, 24718952], [24720010, 24720139], [24727056, 24733322]] [[24663286, 24663403], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331], [24703208, 24703340], [24705206, 24705306], [24705639, 24705708], [24708117, 24708279], [24718749, 24718952], [24720010, 24720139], [24727056, 24727233]]
NM_016447 [[24612964, 24613212], [24659670, 24659839], [24663284, 24663403], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331], [24703208, 24703340], [24705206, 24705306], [24705639, 24705708], [24708117, 24708279], [24718749, 24718952], [24720010, 24720139], [24727056, 24733322]] [[24663286, 24663403], [24681334, 24681487], [24689230, 24689383], [24690103, 24690331], [24703208, 24703340], [24705206, 24705306], [24705639, 24705708], [24708117, 24708279], [24718749, 24718952], [24720010, 24720139], [24727056, 24727233]]
Promoter
Chrom Start End Description
chr7 24612848 24612899 CAGE_peak_3_at_MPP6_5end
chr7 24612935 24612980 CAGE_peak_2_at_MPP6_5end
chr7 24613062 24613091 CAGE_peak_1_at_MPP6_5end
chr7 24613093 24613110 CAGE_peak_4_at_MPP6_5end
chr7 24636716 24636732 CAGE_peak_15_at_MPP6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I024437 24435362 24435511 0.38 [{'connected_gene': 'MPP6', 'score': 11.04}, {'connected_gene': 'GC07P024499', 'score': 0.21}, {'connected_gene': 'NPY', 'score': 0.1}]
chr7 GH07I024406 24406902 24407131 0.43 [{'connected_gene': 'MPP6', 'score': 11.33}, {'connected_gene': 'GC07P024499', 'score': 0.16}, {'connected_gene': 'NPY', 'score': 0.13}]
chr7 GH07I024392 24392402 24393368 0.51 [{'connected_gene': 'MPP6', 'score': 10.43}, {'connected_gene': 'GC07P024499', 'score': 0.14}, {'connected_gene': 'NPY', 'score': 0.14}]
chr7 GH07I024403 24403609 24404406 0.31 [{'connected_gene': 'MPP6', 'score': 11.33}, {'connected_gene': 'GC07P024499', 'score': 0.15}, {'connected_gene': 'NPY', 'score': 0.13}]
chr7 GH07I024435 24435102 24435271 0.49 [{'connected_gene': 'MPP6', 'score': 11.04}, {'connected_gene': 'GC07P024499', 'score': 0.21}, {'connected_gene': 'NPY', 'score': 0.1}]
chr7 GH07I024395 24395444 24396108 0.58 [{'connected_gene': 'MPP6', 'score': 10.44}, {'connected_gene': 'GC07P024499', 'score': 0.15}, {'connected_gene': 'NPY', 'score': 0.14}]
chr7 GH07I024408 24408153 24408319 0.31 [{'connected_gene': 'MPP6', 'score': 11.33}, {'connected_gene': 'GC07P024499', 'score': 0.16}, {'connected_gene': 'NPY', 'score': 0.13}]
chr7 GH07I024436 24436339 24437019 0.38 [{'connected_gene': 'MPP6', 'score': 11.04}, {'connected_gene': 'GC07P024499', 'score': 0.21}, {'connected_gene': 'NPY', 'score': 0.1}]
chr7 GH07I024441 24441148 24442678 0.49 [{'connected_gene': 'MPP6', 'score': 5.24}, {'connected_gene': 'GC07P024499', 'score': 0.22}, {'connected_gene': 'NPY', 'score': 0.1}]
chr7 GH07I024405 24405624 24406520 0.58 [{'connected_gene': 'MPP6', 'score': 11.33}, {'connected_gene': 'GC07P024499', 'score': 0.16}, {'connected_gene': 'NPY', 'score': 0.13}]
chr7 GH07I024774 24774242 24774369 0.33 [{'connected_gene': 'MPP6', 'score': 4.7}, {'connected_gene': 'OSBPL3', 'score': 1.51}, {'connected_gene': 'GSDME', 'score': 0.37}, {'connected_gene': 'SNRPCP19', 'score': 0.12}]
chr7 GH07I024572 24572019 24575324 1.86 [{'connected_gene': 'MPP6', 'score': 561.98}, {'connected_gene': 'GSDME', 'score': 6.49}, {'connected_gene': 'SUMO2P14', 'score': 0.37}]
chr7 GH07I024700 24700062 24700417 0.42 [{'connected_gene': 'MPP6', 'score': 18.76}, {'connected_gene': 'GSDME', 'score': 12.98}, {'connected_gene': 'GC07M024702', 'score': 0.77}, {'connected_gene': 'ENSG00000271330', 'score': 0.31}]
chr7 GH07I024751 24751928 24753070 0.2 [{'connected_gene': 'MPP6', 'score': 12.89}, {'connected_gene': 'GSDME', 'score': 10.41}, {'connected_gene': 'PIR41431', 'score': 0.28}]
chr7 GH07I024732 24732454 24734531 1.26 [{'connected_gene': 'MPP6', 'score': 16.83}, {'connected_gene': 'GSDME', 'score': 14.98}, {'connected_gene': 'PIR41431', 'score': 0.37}]
chr7 GH07I024609 24609186 24610100 0.38 [{'connected_gene': 'MPP6', 'score': 38.55}, {'connected_gene': 'SUMO2P14', 'score': 0.34}, {'connected_gene': 'ENSG00000271330', 'score': 0.21}]
chr7 GH07I024596 24596001 24596200 0.56 [{'connected_gene': 'MPP6', 'score': 27.8}, {'connected_gene': 'SUMO2P14', 'score': 0.44}, {'connected_gene': 'ENSG00000271330', 'score': 0.18}]
chr7 GH07I024665 24665742 24665931 0.57 [{'connected_gene': 'MPP6', 'score': 24.5}, {'connected_gene': 'ENSG00000271330', 'score': 0.44}, {'connected_gene': 'SUMO2P14', 'score': 0.18}]
chr7 GH07I024653 24653201 24654017 0.2 [{'connected_gene': 'MPP6', 'score': 11.98}, {'connected_gene': 'ENSG00000271330', 'score': 0.34}, {'connected_gene': 'SUMO2P14', 'score': 0.21}]
chr7 GH07I024575 24575802 24577194 0.92 [{'connected_gene': 'MPP6', 'score': 15.99}, {'connected_gene': 'SUMO2P14', 'score': 0.39}]
chr7 GH07I024475 24475702 24475851 0.38 [{'connected_gene': 'MPP6', 'score': 20.95}, {'connected_gene': 'RNU6-1103P', 'score': 11.46}, {'connected_gene': 'GC07P024499', 'score': 0.34}, {'connected_gene': 'NPY', 'score': 0.08}]
chr7 GH07I024476 24476887 24478830 1.08 [{'connected_gene': 'MPP6', 'score': 20.96}, {'connected_gene': 'RNU6-1103P', 'score': 11.47}, {'connected_gene': 'GC07P024499', 'score': 0.34}, {'connected_gene': 'NPY', 'score': 0.08}]
chr7 GH07I024668 24668520 24671093 0.86 [{'connected_gene': 'MPP6', 'score': 36.38}, {'connected_gene': 'RNU6-1103P', 'score': 10.04}, {'connected_gene': 'GSDME', 'score': 9.56}, {'connected_gene': 'ENSG00000271330', 'score': 0.77}, {'connected_gene': 'SUMO2P14', 'score': 0.18}]
chr7 GH07I024707 24707647 24709825 0.38 [{'connected_gene': 'GSDME', 'score': 22.94}, {'connected_gene': 'MPP6', 'score': 16.92}, {'connected_gene': 'OSBPL3', 'score': 5.34}, {'connected_gene': 'GC07M024702', 'score': 0.77}, {'connected_gene': 'PIR41431', 'score': 0.44}]
chr7 GH07I024725 24725302 24727291 0.73 [{'connected_gene': 'GSDME', 'score': 21.48}, {'connected_gene': 'MPP6', 'score': 16.84}, {'connected_gene': 'OSBPL3', 'score': 5.35}, {'connected_gene': 'PIR41431', 'score': 0.39}]
chr7 GH07I024778 24778073 24780145 1.4 [{'connected_gene': 'GSDME', 'score': 8.31}, {'connected_gene': 'MPP6', 'score': 7.46}, {'connected_gene': 'C7orf31', 'score': 1.17}, {'connected_gene': 'SNRPCP19', 'score': 0.13}]
chr7 GH07I024753 24753879 24758606 2.38 [{'connected_gene': 'GSDME', 'score': 578.83}, {'connected_gene': 'MPP6', 'score': 14.78}, {'connected_gene': 'C7orf31', 'score': 1.32}, {'connected_gene': 'PIR41431', 'score': 0.26}]
chr7 GH07I024718 24718209 24720425 0.72 [{'connected_gene': 'GSDME', 'score': 23.52}, {'connected_gene': 'MPP6', 'score': 16.83}, {'connected_gene': 'PIR41431', 'score': 0.77}]
chr7 GH07I024794 24794401 24794600 0.82 [{'connected_gene': 'C7orf31', 'score': 11.4}, {'connected_gene': 'GSDME', 'score': 5.77}, {'connected_gene': 'MPP6', 'score': 4.85}, {'connected_gene': 'SNRPCP19', 'score': 0.14}]
chr7 GH07I024587 24587942 24588111 0.57 [{'connected_gene': 'SUMO2P14', 'score': 550.77}, {'connected_gene': 'MPP6', 'score': 27.86}]
chr7 GH07I024580 24580662 24580811 0.77 [{'connected_gene': 'SUMO2P14', 'score': 0.44}, {'connected_gene': 'MPP6', 'score': 0.44}]
chr7 GH07I024595 24595842 24595991 0.57 [{'connected_gene': 'SUMO2P14', 'score': 0.44}, {'connected_gene': 'MPP6', 'score': 0.34}, {'connected_gene': 'ENSG00000271330', 'score': 0.18}]
chr7 GH07I024456 24456174 24457693 0.98 [{'connected_gene': 'RNU6-1103P', 'score': 10.99}, {'connected_gene': 'MPP6', 'score': 4.72}, {'connected_gene': 'GC07P024499', 'score': 0.26}, {'connected_gene': 'NPY', 'score': 0.09}]
chr7 GH07I024503 24503642 24503791 0.2 [{'connected_gene': 'RNU6-1103P', 'score': 11.56}, {'connected_gene': 'MPP6', 'score': 10.87}, {'connected_gene': 'GC07P024499', 'score': 0.77}, {'connected_gene': 'GC07P024537', 'score': 0.29}]
chr7 GH07I024701 24700558 24704001 0.66 [{'connected_gene': 'GC07M024702', 'score': 550.77}, {'connected_gene': 'MPP6', 'score': 24.47}, {'connected_gene': 'GSDME', 'score': 19.67}, {'connected_gene': 'OSBPL3', 'score': 5.43}, {'connected_gene': 'ENSG00000271330', 'score': 0.31}]
chr7 GH07I024715 24715540 24717316 0.76 [{'connected_gene': 'PIR41431', 'score': 550.77}, {'connected_gene': 'MPP6', 'score': 22.8}, {'connected_gene': 'GSDME', 'score': 19.81}]