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
ENST00000355431 [[58765102, 58765418], [58766515, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58832741, 58832948], [58833600, 58833747], [58838603, 58840451]] [[58766572, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58832741, 58832948], [58833600, 58833747], [58838603, 58838707]]
ENST00000348476 [[58765221, 58765418], [58766515, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58833600, 58833747], [58838603, 58840448]] [[58766572, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58833600, 58833747], [58838603, 58838707]]
ENST00000395168 [[58765273, 58765418], [58766515, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58832741, 58832786], [58833600, 58833747], [58838603, 58838944]] [[58766572, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58832741, 58832786], [58833600, 58833747], [58838603, 58838707]]
ENST00000431612 [[58765276, 58765418], [58766515, 58766578], [58768297, 58768408], [58770255, 58770479], [58771661, 58771727], [58772739, 58772830]] [[58766572, 58766578], [58768297, 58768408], [58770255, 58770261]]
ENST00000445108 [[58765305, 58765418], [58766515, 58766578], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887]] [[58766572, 58766578], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887]]
ENST00000424658 [[58766048, 58766409], [58766515, 58766578], [58768297, 58768408], [58771661, 58771708]] [[58766572, 58766578], [58768297, 58768408], [58771661, 58771708]]
ENST00000431317 [[58766254, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58833600, 58833747], [58838603, 58840605]] [[58766572, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58833600, 58833747], [58838603, 58838707]]
ENST00000417477 [[58798004, 58798236], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018]] [[58811472, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018]]
ENST00000553355 [[58818014, 58818394], [58820375, 58820573], [58825849, 58825890]] None
ENST00000469635 [[58820171, 58820573], [58825849, 58825934], [58827618, 58827709]] None
ENST00000466065 [[58832192, 58832340], [58833600, 58833747], [58838603, 58838678]] None
NM_023001 [[58765221, 58765418], [58766515, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58833600, 58833747], [58838603, 58840451]] [[58766572, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58833600, 58833747], [58838603, 58838707]]
NM_023000 [[58765221, 58765418], [58766515, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58832741, 58832786], [58833600, 58833747], [58838603, 58840451]] [[58766572, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58832741, 58832786], [58833600, 58833747], [58838603, 58838707]]
NM_002892 [[58765221, 58765418], [58766515, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58832741, 58832948], [58833600, 58833747], [58838603, 58840451]] [[58766572, 58766578], [58768297, 58768408], [58771661, 58771727], [58772739, 58772830], [58785259, 58785339], [58785428, 58785523], [58790202, 58790335], [58794954, 58795034], [58796245, 58796322], [58796720, 58796887], [58811412, 58811485], [58813128, 58813223], [58813737, 58813835], [58814364, 58814596], [58817790, 58818041], [58820375, 58820573], [58825849, 58825934], [58827618, 58827760], [58830887, 58832018], [58832235, 58832340], [58832741, 58832948], [58833600, 58833747], [58838603, 58838707]]
Promoter
Chrom Start End Description
chr14 58765217 58765301 CAGE_peak_1_at_ARID4A_5end
chr14 58765305 58765324 CAGE_peak_4_at_ARID4A_5end
chr14 58797974 58798011 CAGE_peak_3_at_ARID4A_5end
chr14 58798013 58798071 CAGE_peak_2_at_ARID4A_5end
chr14 58798147 58798156 CAGE_peak_27_at_ARID4A_5end
chr14 58817788 58817805 CAGE_peak_5_at_ARID4A_5end
chr14 58832207 58832210 CAGE_peak_6_at_ARID4A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I058426 58426145 58429744 2.3 [{'connected_gene': 'KIAA0586', 'score': 578.89}, {'connected_gene': 'TIMM9', 'score': 572.6}, {'connected_gene': 'GC14M058423', 'score': 550.77}, {'connected_gene': 'PSMA3-AS1', 'score': 31.23}, {'connected_gene': 'ENSG00000259969', 'score': 29.5}, {'connected_gene': 'ENSG00000258682', 'score': 28.75}, {'connected_gene': 'HMGB1P14', 'score': 22.92}, {'connected_gene': 'SLC35F4', 'score': 11.28}, {'connected_gene': 'ARID4A', 'score': 10.77}, {'connected_gene': 'RPL31P4', 'score': 10.61}, {'connected_gene': 'HNRNPCP1', 'score': 10.05}, {'connected_gene': 'RPL9P5', 'score': 6.16}, {'connected_gene': 'GC14P058442', 'score': 0.39}, {'connected_gene': 'ENSG00000258378', 'score': 0.31}, {'connected_gene': 'GC14P058345', 'score': 0.18}]
chr14 GH14I058242 58242808 58246401 2.23 [{'connected_gene': 'PSMA3', 'score': 550.77}, {'connected_gene': 'RNU6-341P', 'score': 12.61}, {'connected_gene': 'C14orf37', 'score': 12.6}, {'connected_gene': 'ARID4A', 'score': 12.6}, {'connected_gene': 'PSMA3-AS1', 'score': 9.04}, {'connected_gene': 'ENSG00000258682', 'score': 7.94}, {'connected_gene': 'TRK-CTT1-1', 'score': 0.77}, {'connected_gene': 'GC14P058110', 'score': 0.12}]
chr14 GH14I058280 58280564 58282943 1.56 [{'connected_gene': 'ACTR10', 'score': 22.62}, {'connected_gene': 'TOMM20L', 'score': 10.84}, {'connected_gene': 'ENSG00000258682', 'score': 8.7}, {'connected_gene': 'ARID4A', 'score': 5.8}, {'connected_gene': 'HMGB1P14', 'score': 0.77}, {'connected_gene': 'PIR55001', 'score': 0.39}, {'connected_gene': 'C14orf37', 'score': 0.37}, {'connected_gene': 'PSMA3-AS1', 'score': 0.37}]
chr14 GH14I058372 58372509 58372884 0.4 [{'connected_gene': 'TOMM20L', 'score': 12.36}, {'connected_gene': 'LOC105370522', 'score': 0.34}, {'connected_gene': 'GC14P058345', 'score': 0.31}, {'connected_gene': 'ARID4A', 'score': 0.19}]
chr14 GH14I058352 58352595 58354283 0.4 [{'connected_gene': 'TOMM20L', 'score': 11.51}, {'connected_gene': 'GC14P058345', 'score': 0.44}, {'connected_gene': 'LOC105370522', 'score': 0.26}, {'connected_gene': 'ARID4A', 'score': 0.22}]
chr14 GH14I058329 58329987 58331933 0.94 [{'connected_gene': 'PSMA3-AS1', 'score': 29.72}, {'connected_gene': 'ENSG00000258682', 'score': 14.86}, {'connected_gene': 'ARID4A', 'score': 10.48}, {'connected_gene': 'TOMM20L', 'score': 10.11}, {'connected_gene': 'GC14P058345', 'score': 0.39}]
chr14 GH14I058296 58296200 58300650 2.53 [{'connected_gene': 'PSMA3-AS1', 'score': 570.55}, {'connected_gene': 'ARID4A', 'score': 557.25}, {'connected_gene': 'C14orf37', 'score': 550.77}, {'connected_gene': 'KIAA0586', 'score': 25.08}, {'connected_gene': 'ENSG00000258682', 'score': 24.68}, {'connected_gene': 'TIMM9', 'score': 13.82}, {'connected_gene': 'TOMM20L', 'score': 10.77}, {'connected_gene': 'ACTR10', 'score': 6.46}, {'connected_gene': 'GC14P058345', 'score': 0.25}]
chr14 GH14I059187 59187510 59190969 2.54 [{'connected_gene': 'DAAM1', 'score': 552.48}, {'connected_gene': 'KIAA0586', 'score': 21.7}, {'connected_gene': 'L3HYPDH', 'score': 16.45}, {'connected_gene': 'ENSG00000258682', 'score': 12.94}, {'connected_gene': 'PSMA3-AS1', 'score': 12.83}, {'connected_gene': 'HMGB1P14', 'score': 11.37}, {'connected_gene': 'ARID4A', 'score': 9.76}, {'connected_gene': 'GC14P059252', 'score': 0.21}]
chr14 GH14I058748 58748201 58751110 1.39 [{'connected_gene': 'LOC102723725', 'score': 550.77}, {'connected_gene': 'ARID4A', 'score': 3.09}, {'connected_gene': 'GC14P058773', 'score': 0.34}]
chr14 GH14I058238 58238020 58240999 1.6 [{'connected_gene': 'TRK-CTT1-1', 'score': 550.77}, {'connected_gene': 'ARID4A', 'score': 12.77}, {'connected_gene': 'DACT1', 'score': 12.75}, {'connected_gene': 'KIAA0586', 'score': 10.26}, {'connected_gene': 'ENSG00000258682', 'score': 7.5}, {'connected_gene': 'PSMA3-AS1', 'score': 7.34}, {'connected_gene': 'C14orf37', 'score': 5.44}, {'connected_gene': 'ACTR10', 'score': 0.28}, {'connected_gene': 'GC14P058110', 'score': 0.13}]
chr14 GH14I058660 58659840 58660815 0.64 [{'connected_gene': 'ENSG00000258682', 'score': 46.03}, {'connected_gene': 'PSMA3-AS1', 'score': 44.64}, {'connected_gene': 'KIAA0586', 'score': 42.92}, {'connected_gene': 'HMGB1P14', 'score': 38.35}, {'connected_gene': 'L3HYPDH', 'score': 32.36}, {'connected_gene': 'ARID4A', 'score': 18.86}, {'connected_gene': 'GPR135', 'score': 13.41}, {'connected_gene': 'TIMM9', 'score': 11.67}, {'connected_gene': 'DACT1', 'score': 10.48}, {'connected_gene': 'JKAMP', 'score': 10.13}, {'connected_gene': 'HNRNPCP1', 'score': 10.01}, {'connected_gene': 'ENSG00000259969', 'score': 9.7}, {'connected_gene': 'GC14P058645', 'score': 0.37}, {'connected_gene': 'LOC102723725', 'score': 0.17}]
chr14 GH14I057865 57865483 57865572 0.72 [{'connected_gene': 'ENSG00000258682', 'score': 16.4}, {'connected_gene': 'PSMA3-AS1', 'score': 14.31}, {'connected_gene': 'ARID4A', 'score': 13.05}, {'connected_gene': 'HMGB1P14', 'score': 10.4}, {'connected_gene': 'RN7SKP99', 'score': 0.31}, {'connected_gene': 'GC14M057931', 'score': 0.15}, {'connected_gene': 'SLC35F4', 'score': 0.13}]