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
ENST00000347936 [[2920950, 2921036], [2924443, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946476]] [[2924575, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946427]]
ENST00000312221 [[2923422, 2923594], [2924443, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946476]] [[2924575, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946427]]
ENST00000449793 [[2923512, 2923594], [2924443, 2924719], [2929462, 2929560], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946457]] [[2924575, 2924719], [2929462, 2929560], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946427]]
ENST00000380574 [[2923649, 2923948], [2924443, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946476]] [[2924575, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946427]]
ENST00000485423 [[2924343, 2924719], [2929462, 2929560], [2930425, 2930586]] [[2924575, 2924719], [2929462, 2929560], [2930425, 2930586]]
ENST00000492567 [[2924605, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937438, 2937616]] None
ENST00000498244 [[2930502, 2930586], [2930807, 2931048]] None
ENST00000467719 [[2937375, 2937970], [2939217, 2939325], [2940536, 2942468]] None
ENST00000463571 [[2937465, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946332]] None
ENST00000498209 [[2937872, 2937970], [2939217, 2939325], [2940536, 2940637], [2942581, 2943056]] None
ENST00000441077 [[2937911, 2937970], [2939217, 2939325], [2940135, 2940238], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946476]] None
ENST00000449603 [[2938177, 2938253], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946413]] None
ENST00000495518 [[2943197, 2943433], [2943665, 2943786], [2946239, 2946470]] None
NM_183233 [[2920950, 2921036], [2924443, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946476]] [[2924575, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946427]]
NM_001315502 [[2923511, 2923594], [2924443, 2924719], [2929462, 2929560], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946476]] [[2924575, 2924719], [2929462, 2929560], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946427]]
NM_002555 [[2923511, 2923594], [2924443, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946476]] [[2924575, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946427]]
NM_001315501 [[2923649, 2923948], [2924443, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946476]] [[2923825, 2923948], [2924443, 2924719], [2929462, 2929560], [2930425, 2930586], [2930807, 2930940], [2937851, 2937970], [2939217, 2939325], [2940536, 2940637], [2943331, 2943433], [2943665, 2943786], [2946239, 2946427]]
Promoter
Chrom Start End Description
chr11 2920857 2920864 CAGE_peak_13_at_SLC22A18_5end
chr11 2920913 2920942 CAGE_peak_4_at_SLC22A18_5end
chr11 2920955 2920995 CAGE_peak_3_at_SLC22A18_5end
chr11 2923490 2923497 CAGE_peak_6_at_SLC22A18_5end
chr11 2923499 2923570 CAGE_peak_1_at_SLC22A18_5end
chr11 2923619 2923628 CAGE_peak_7_at_SLC22A18_5end
chr11 2923940 2923964 CAGE_peak_5_at_SLC22A18_5end
chr11 2924521 2924577 CAGE_peak_2_at_SLC22A18_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I002924 2924433 2925095 0.69 [{'connected_gene': 'PHLDA2', 'score': 14.97}, {'connected_gene': 'SLC22A18AS', 'score': 0.34}, {'connected_gene': 'SLC22A18', 'score': 0.31}]
chr11 GH11I002940 2939009 2939430 0.46 [{'connected_gene': 'SLC22A18AS', 'score': 11.75}, {'connected_gene': 'SLC22A18', 'score': 11.75}, {'connected_gene': 'SNORA54', 'score': 11.75}, {'connected_gene': 'NAP1L4', 'score': 11.64}, {'connected_gene': 'PHLDA2', 'score': 8.81}, {'connected_gene': 'GC11M002963', 'score': 0.34}, {'connected_gene': 'GC11M002964', 'score': 0.34}, {'connected_gene': 'PIR57698', 'score': 0.34}]
chr11 GH11I002549 2549924 2551522 0.51 [{'connected_gene': 'SLC22A18AS', 'score': 16.34}, {'connected_gene': 'TRPM5', 'score': 11.23}, {'connected_gene': 'KCNQ1-AS1', 'score': 10.69}, {'connected_gene': 'KCNQ1DN', 'score': 10.69}, {'connected_gene': 'SLC22A18', 'score': 10.58}, {'connected_gene': 'ENSG00000199550', 'score': 9.6}, {'connected_gene': 'CD81', 'score': 9.6}, {'connected_gene': 'GC11P002540', 'score': 0.39}, {'connected_gene': 'GC11P002570', 'score': 0.37}, {'connected_gene': 'KCNQ1', 'score': 0.14}]
chr11 GH11I002834 2834708 2840984 0.99 [{'connected_gene': 'SLC22A18', 'score': 4.98}, {'connected_gene': 'TSSC2', 'score': 4.61}, {'connected_gene': 'KCNQ1-AS1', 'score': 0.34}, {'connected_gene': 'COX6CP18', 'score': 0.2}, {'connected_gene': 'KCNQ1', 'score': 0.05}]
chr11 GH11I002910 2910742 2914150 1.2 [{'connected_gene': 'SLC22A18', 'score': 19.01}, {'connected_gene': 'SLC22A18AS', 'score': 0.44}, {'connected_gene': 'PHLDA2', 'score': 0.37}]
chr11 GH11I002901 2901022 2905091 2.18 [{'connected_gene': 'SLC22A18', 'score': 593.39}, {'connected_gene': 'SLC22A18AS', 'score': 559.73}]
chr11 GH11I002897 2897803 2900400 2.1 [{'connected_gene': 'SLC22A18', 'score': 565.19}, {'connected_gene': 'KCNQ1', 'score': 5.35}, {'connected_gene': 'TRPC2', 'score': 4.7}, {'connected_gene': 'SLC22A18AS', 'score': 0.77}, {'connected_gene': 'CDKN1C', 'score': 0.39}]
chr11 GH11I002889 2889110 2893537 1.39 [{'connected_gene': 'NUP98', 'score': 15.66}, {'connected_gene': 'TSSC4', 'score': 11.32}, {'connected_gene': 'NAP1L4', 'score': 4.77}, {'connected_gene': 'CDKN1C', 'score': 0.44}, {'connected_gene': 'SLC22A18', 'score': 0.44}, {'connected_gene': 'SLC22A18AS', 'score': 0.39}]
chr11 GH11I002950 2950783 2952963 0.59 [{'connected_gene': 'NAP1L4', 'score': 23.36}, {'connected_gene': 'ENSG00000183562', 'score': 17.31}, {'connected_gene': 'PHLDA2', 'score': 17.13}, {'connected_gene': 'SLC22A18', 'score': 11.36}, {'connected_gene': 'RNU1-91P', 'score': 9.93}, {'connected_gene': 'CARS', 'score': 5.58}, {'connected_gene': 'GC11M002964', 'score': 0.39}, {'connected_gene': 'PIR57698', 'score': 0.39}, {'connected_gene': 'GC11M002963', 'score': 0.39}, {'connected_gene': 'SNORA54', 'score': 0.39}]
chr11 GH11I002939 2939996 2941950 1.4 [{'connected_gene': 'NAP1L4', 'score': 25.16}, {'connected_gene': 'ENSG00000183562', 'score': 21.55}, {'connected_gene': 'SLC22A18AS', 'score': 11.75}, {'connected_gene': 'SNORA54', 'score': 11.75}, {'connected_gene': 'SLC22A18', 'score': 11.74}, {'connected_gene': 'KCNQ1', 'score': 7.05}, {'connected_gene': 'PHLDA2', 'score': 6.16}, {'connected_gene': 'KCNQ1-AS1', 'score': 5.68}, {'connected_gene': 'GC11M002964', 'score': 0.34}, {'connected_gene': 'PIR57698', 'score': 0.34}, {'connected_gene': 'GC11M002963', 'score': 0.34}]
chr11 GH11I003000 3000001 3002054 1.14 [{'connected_gene': 'NAP1L4', 'score': 12.56}, {'connected_gene': 'CARS-AS1', 'score': 12.55}, {'connected_gene': 'CARS', 'score': 12.46}, {'connected_gene': 'SNORA54', 'score': 11.26}, {'connected_gene': 'RNU1-91P', 'score': 10.85}, {'connected_gene': 'ENSG00000224513', 'score': 10.38}, {'connected_gene': 'PHLDA2', 'score': 10.32}, {'connected_gene': 'SLC22A18', 'score': 10.27}, {'connected_gene': 'MRGPRG', 'score': 9.87}, {'connected_gene': 'MRGPRG-AS1', 'score': 9.87}, {'connected_gene': 'GC11M002982', 'score': 0.77}]
chr11 GH11I002967 2967684 2967993 0.24 [{'connected_gene': 'MRGPRG', 'score': 18.39}, {'connected_gene': 'SLC22A18', 'score': 2.16}, {'connected_gene': 'GC11M002964', 'score': 0.77}, {'connected_gene': 'PIR57698', 'score': 0.77}, {'connected_gene': 'GC11M002963', 'score': 0.77}, {'connected_gene': 'SNORA54', 'score': 0.77}, {'connected_gene': 'ENSG00000183562', 'score': 0.34}, {'connected_gene': 'NAP1L4', 'score': 0.34}]
chr11 GH11I002859 2859018 2862882 0.77 [{'connected_gene': 'KCNQ1-AS1', 'score': 550.77}, {'connected_gene': 'SLC22A18', 'score': 6.14}, {'connected_gene': 'COX6CP18', 'score': 0.17}]
chr11 GH11I002521 2521139 2523202 0.2 [{'connected_gene': 'TRPM5', 'score': 17.08}, {'connected_gene': 'CDKN1C', 'score': 12.31}, {'connected_gene': 'SLC22A18AS', 'score': 12.31}, {'connected_gene': 'SLC22A18', 'score': 11.35}, {'connected_gene': 'PHLDA2', 'score': 11.34}, {'connected_gene': 'KCNQ1-AS1', 'score': 10.51}, {'connected_gene': 'KCNQ1DN', 'score': 10.51}, {'connected_gene': 'ENSG00000199550', 'score': 10.23}, {'connected_gene': 'CD81', 'score': 10.23}, {'connected_gene': 'KCNQ1', 'score': 4.74}, {'connected_gene': 'GC11P002517', 'score': 0.44}, {'connected_gene': 'PIR42060', 'score': 0.39}]
chr11 GH11I002881 2881432 2887180 1.95 [{'connected_gene': 'CDKN1C', 'score': 550.77}, {'connected_gene': 'PHLDA2', 'score': 11.02}, {'connected_gene': 'TRPM5', 'score': 10.99}, {'connected_gene': 'KCNQ1OT1', 'score': 10.97}, {'connected_gene': 'RNU1-91P', 'score': 9.27}, {'connected_gene': 'SLC22A18', 'score': 6.11}, {'connected_gene': 'ENSG00000274740', 'score': 0.39}]
chr11 GH11I002888 2887591 2887800 0.51 [{'connected_gene': 'CDKN1C', 'score': 550.77}, {'connected_gene': 'SLC22A18', 'score': 0.39}, {'connected_gene': 'SLC22A18AS', 'score': 0.37}]
chr11 GH11I002887 2887411 2887560 0.2 [{'connected_gene': 'CDKN1C', 'score': 550.77}, {'connected_gene': 'SLC22A18', 'score': 0.39}, {'connected_gene': 'SLC22A18AS', 'score': 0.37}]
chr11 GH11I002890 2888201 2888801 1.06 [{'connected_gene': 'CDKN1C', 'score': 0.77}, {'connected_gene': 'SLC22A18', 'score': 0.39}, {'connected_gene': 'SLC22A18AS', 'score': 0.37}]
chr11 GH11I002997 2997972 2998613 0.63 [{'connected_gene': 'CARS-AS1', 'score': 12.53}, {'connected_gene': 'CARS', 'score': 12.46}, {'connected_gene': 'NAP1L4', 'score': 12.43}, {'connected_gene': 'SNORA54', 'score': 11.28}, {'connected_gene': 'RNU1-91P', 'score': 10.76}, {'connected_gene': 'ENSG00000224513', 'score': 10.38}, {'connected_gene': 'PHLDA2', 'score': 10.33}, {'connected_gene': 'SLC22A18', 'score': 10.28}, {'connected_gene': 'MRGPRG', 'score': 9.87}, {'connected_gene': 'MRGPRG-AS1', 'score': 9.87}, {'connected_gene': 'ENSG00000183562', 'score': 7.44}, {'connected_gene': 'GC11M002982', 'score': 0.77}]
chr11 GH11I002537 2537725 2540618 0.4 [{'connected_gene': 'GC11P002540', 'score': 550.77}, {'connected_gene': 'SLC22A18AS', 'score': 11.84}, {'connected_gene': 'CDKN1C', 'score': 11.84}, {'connected_gene': 'SLC22A18', 'score': 11.42}, {'connected_gene': 'PHLDA2', 'score': 10.46}, {'connected_gene': 'NAP1L4', 'score': 9.4}, {'connected_gene': 'SNORA54', 'score': 9.39}, {'connected_gene': 'PIR42060', 'score': 0.77}, {'connected_gene': 'KCNQ1', 'score': 0.16}]
chr11 GH11I002986 2986838 2993418 2.23 [{'connected_gene': 'ENSG00000183562', 'score': 572.04}, {'connected_gene': 'NAP1L4', 'score': 564.02}, {'connected_gene': 'CARS', 'score': 17.42}, {'connected_gene': 'NUP98', 'score': 15.66}, {'connected_gene': 'SLC22A18', 'score': 11.4}, {'connected_gene': 'TSSC4', 'score': 11.31}, {'connected_gene': 'SNORA54', 'score': 10.87}, {'connected_gene': 'PHLDA2', 'score': 6.09}, {'connected_gene': 'GC11M002982', 'score': 0.39}]
chr11 GH11I003004 3004944 3006122 0.2 [{'connected_gene': 'ENSG00000183562', 'score': 19.26}, {'connected_gene': 'NAP1L4', 'score': 8.1}, {'connected_gene': 'SLC22A18', 'score': 6.18}, {'connected_gene': 'PHLDA2', 'score': 5.85}, {'connected_gene': 'GC11M002982', 'score': 0.77}, {'connected_gene': 'CARS-AS1', 'score': 0.34}, {'connected_gene': 'CARS', 'score': 0.23}]
chr11 GH11I003003 3003251 3004837 0.4 [{'connected_gene': 'GC11M002982', 'score': 550.77}, {'connected_gene': 'NAP1L4', 'score': 8.31}, {'connected_gene': 'SLC22A18', 'score': 7.7}, {'connected_gene': 'CARS-AS1', 'score': 0.34}, {'connected_gene': 'CARS', 'score': 0.23}]

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