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
ENST00000373670 [[125606834, 125612101], [125613359, 125613508], [125613601, 125613715], [125616230, 125616365], [125616463, 125616545], [125616809, 125616894], [125617462, 125617676], [125618010, 125618157], [125620201, 125620372], [125620947, 125621381], [125622195, 125622410], [125627627, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125660389]] [[125611905, 125612101], [125613359, 125613508], [125613601, 125613715], [125616230, 125616365], [125616463, 125616545], [125616809, 125616894], [125617462, 125617676], [125618010, 125618157], [125620201, 125620372], [125620947, 125621381], [125622195, 125622410], [125627627, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659788]]
ENST00000498479 [[125609833, 125612101], [125613359, 125613508], [125613601, 125613715], [125616230, 125616365], [125616463, 125616545], [125616809, 125616894], [125617462, 125617676], [125618010, 125618157], [125620201, 125620372], [125620947, 125621381], [125622195, 125622410], [125627627, 125627820], [125627902, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659855], [125667388, 125667501]] [[125627742, 125627820], [125627902, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659788]]
ENST00000454740 [[125611715, 125612101], [125613378, 125613508], [125613601, 125613715], [125616230, 125616365], [125616463, 125616545], [125616809, 125616885]] [[125612072, 125612101], [125613378, 125613508], [125613601, 125613715], [125616230, 125616365], [125616463, 125616545], [125616809, 125616885]]
ENST00000357244 [[125611731, 125612101], [125613359, 125613508], [125613601, 125613715], [125616230, 125616365], [125616463, 125616545], [125616809, 125616894], [125617462, 125617676], [125618010, 125618157], [125620201, 125620372], [125620947, 125621381], [125622195, 125622410], [125627627, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659855], [125667388, 125667562]] [[125611905, 125612101], [125613359, 125613508], [125613601, 125613715], [125616230, 125616365], [125616463, 125616545], [125616809, 125616894], [125617462, 125617676], [125618010, 125618157], [125620201, 125620372], [125620947, 125621381], [125622195, 125622410], [125627627, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659788]]
ENST00000495727 [[125612077, 125612101], [125613359, 125613508], [125613601, 125613848]] None
ENST00000423239 [[125616023, 125616365], [125616463, 125616545], [125616809, 125616894], [125617462, 125617676], [125618010, 125618157], [125620201, 125620372], [125620947, 125621381], [125622195, 125622410], [125627627, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659855], [125667388, 125667620]] [[125616152, 125616365], [125616463, 125616545], [125616809, 125616894], [125617462, 125617676], [125618010, 125618157], [125620201, 125620372], [125620947, 125621381], [125622195, 125622410], [125627627, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659788]]
ENST00000398671 [[125616052, 125616365], [125616463, 125616545], [125616809, 125616860], [125617462, 125617676], [125618010, 125618016]] [[125616480, 125616545], [125616809, 125616860], [125617462, 125617676], [125618010, 125618016]]
ENST00000373665 [[125627742, 125627820], [125627902, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659855], [125667388, 125667562]] [[125627742, 125627820], [125627902, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659788]]
ENST00000335387 [[125636064, 125637647], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659855], [125667388, 125667494]] [[125637451, 125637647], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659788]]
ENST00000478216 [[125652448, 125652824], [125667388, 125667559]] None
ENST00000471874 [[125652449, 125652824], [125655187, 125655305], [125659557, 125659813]] [[125652516, 125652824], [125655187, 125655305], [125659557, 125659788]]
NM_001100588 [[125611731, 125612101], [125613359, 125613508], [125613601, 125613715], [125616230, 125616365], [125616463, 125616545], [125616809, 125616894], [125617462, 125617676], [125618010, 125618157], [125620201, 125620372], [125620947, 125621381], [125622195, 125622410], [125627627, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659855], [125667388, 125667562]] [[125611905, 125612101], [125613359, 125613508], [125613601, 125613715], [125616230, 125616365], [125616463, 125616545], [125616809, 125616894], [125617462, 125617676], [125618010, 125618157], [125620201, 125620372], [125620947, 125621381], [125622195, 125622410], [125627627, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659788]]
NM_018835 [[125616023, 125616365], [125616463, 125616545], [125616809, 125616894], [125617462, 125617676], [125618010, 125618157], [125620201, 125620372], [125620947, 125621381], [125622195, 125622410], [125627627, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659855], [125667388, 125667562]] [[125616152, 125616365], [125616463, 125616545], [125616809, 125616894], [125617462, 125617676], [125618010, 125618157], [125620201, 125620372], [125620947, 125621381], [125622195, 125622410], [125627627, 125627936], [125639749, 125639862], [125642033, 125642152], [125642271, 125642404], [125642872, 125643073], [125645482, 125645658], [125652590, 125652824], [125655187, 125655305], [125659557, 125659788]]
Promoter
Chrom Start End Description
chr9 125667518 125667588 CAGE_peak_1_at_RC3H2_5end
chr9 125667618 125667678 CAGE_peak_2_at_RC3H2_5end
chr9 125667739 125667770 CAGE_peak_4_at_RC3H2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I122365 122365876 122367051 0.59 [{'connected_gene': 'MRRF', 'score': 13.26}, {'connected_gene': 'RC3H2', 'score': 10.61}, {'connected_gene': 'PTGS1', 'score': 0.77}, {'connected_gene': 'GC09P122331', 'score': 0.28}]
chr9 GH09I122900 122900353 122902200 1.11 [{'connected_gene': 'SNORD90', 'score': 11.13}, {'connected_gene': 'RC3H2', 'score': 0.77}, {'connected_gene': 'GC09P122904', 'score': 0.77}, {'connected_gene': 'PIR42233', 'score': 0.44}]
chr9 GH09I123775 123775439 123777650 1.24 [{'connected_gene': 'ZBTB26', 'score': 11.65}, {'connected_gene': 'RC3H2', 'score': 10.22}, {'connected_gene': 'ENSG00000261094', 'score': 10.03}, {'connected_gene': 'DENND1A', 'score': 9.59}, {'connected_gene': 'ENSG00000229115', 'score': 0.37}, {'connected_gene': 'PIGFP2', 'score': 0.2}]
chr9 GH09I123304 123304262 123305553 1.38 [{'connected_gene': 'ZBTB26', 'score': 23.28}, {'connected_gene': 'RC3H2', 'score': 11.94}, {'connected_gene': 'STRBP', 'score': 11.27}, {'connected_gene': 'MIR600HG', 'score': 10.71}, {'connected_gene': 'MIR600', 'score': 10.71}, {'connected_gene': 'GC09M123300', 'score': 0.77}, {'connected_gene': 'LOC105376265', 'score': 0.37}]
chr9 GH09I123326 123326040 123328700 1.34 [{'connected_gene': 'ZBTB26', 'score': 15.17}, {'connected_gene': 'RC3H2', 'score': 12.29}, {'connected_gene': 'ZBTB6', 'score': 9.99}, {'connected_gene': 'STRBP', 'score': 8.06}, {'connected_gene': 'LOC105376265', 'score': 0.77}, {'connected_gene': 'CRB2', 'score': 0.31}]
chr9 GH09I122897 122897039 122898489 0.2 [{'connected_gene': 'ZBTB26', 'score': 11.4}, {'connected_gene': 'PIR42233', 'score': 0.77}, {'connected_gene': 'RC3H2', 'score': 0.44}, {'connected_gene': 'GC09P122904', 'score': 0.44}]
chr9 GH09I122443 122443111 122447656 0.93 [{'connected_gene': 'PTGS1', 'score': 11.35}, {'connected_gene': 'MRRF', 'score': 10.98}, {'connected_gene': 'ZBTB26', 'score': 10.9}, {'connected_gene': 'OR1K1', 'score': 10.87}, {'connected_gene': 'ENSG00000231465', 'score': 10.86}, {'connected_gene': 'ZBTB6', 'score': 10.83}, {'connected_gene': 'RC3H2', 'score': 10.46}, {'connected_gene': 'OR5C1', 'score': 10.23}, {'connected_gene': 'TTLL11', 'score': 9.98}, {'connected_gene': 'OR1J2', 'score': 0.77}, {'connected_gene': 'ENSG00000229245', 'score': 0.26}]
chr9 GH09I122374 122374482 122378730 1.91 [{'connected_gene': 'PTGS1', 'score': 556.66}, {'connected_gene': 'ZBTB26', 'score': 10.72}, {'connected_gene': 'RC3H2', 'score': 10.36}, {'connected_gene': 'OR1K1', 'score': 9.29}, {'connected_gene': 'DAB2IP', 'score': 4.06}, {'connected_gene': 'OR1L3', 'score': 2.73}, {'connected_gene': 'ENSG00000269970', 'score': 0.77}, {'connected_gene': 'ENSG00000233616', 'score': 0.31}]
chr9 GH09I123239 123239916 123240009 0.44 [{'connected_gene': 'STRBP', 'score': 14.44}, {'connected_gene': 'MIR600', 'score': 10.76}, {'connected_gene': 'MIR600HG', 'score': 10.76}, {'connected_gene': 'OR1L6', 'score': 4.22}, {'connected_gene': 'GPR21', 'score': 2.22}, {'connected_gene': 'RC3H2', 'score': 1.46}, {'connected_gene': 'ZBTB26', 'score': 1.42}, {'connected_gene': 'ZBTB6', 'score': 1.23}, {'connected_gene': 'GC09M123183', 'score': 0.13}, {'connected_gene': 'PIR44660', 'score': 0.13}]
chr9 GH09I122939 122939924 122943063 2.02 [{'connected_gene': 'RABGAP1', 'score': 556.97}, {'connected_gene': 'ZBTB6', 'score': 11.88}, {'connected_gene': 'RC3H2', 'score': 11.62}, {'connected_gene': 'ENSG00000261094', 'score': 0.77}, {'connected_gene': 'RNY1P15', 'score': 0.77}]
chr9 GH09I122860 122860862 122860991 0.57 [{'connected_gene': 'ZBTB6', 'score': 10.19}, {'connected_gene': 'PIR53418', 'score': 0.39}, {'connected_gene': 'GC09M122881', 'score': 0.37}, {'connected_gene': 'SNORD90', 'score': 0.37}, {'connected_gene': 'RC3H2', 'score': 0.26}]
chr9 GH09I122911 122911920 122914200 2.04 [{'connected_gene': 'ZBTB6', 'score': 550.77}, {'connected_gene': 'RABGAP1', 'score': 5.98}, {'connected_gene': 'RC3H2', 'score': 0.44}]
chr9 GH09I122944 122944847 122944906 0.87 [{'connected_gene': 'RNY1P15', 'score': 550.77}, {'connected_gene': 'RABGAP1', 'score': 550.77}, {'connected_gene': 'ZBTB6', 'score': 11.86}, {'connected_gene': 'RC3H2', 'score': 11.62}, {'connected_gene': 'ENSG00000233616', 'score': 5.13}]
chr9 GH09I122330 122330885 122333645 1.06 [{'connected_gene': 'GC09P122331', 'score': 550.77}, {'connected_gene': 'MRRF', 'score': 11.09}, {'connected_gene': 'ZBTB26', 'score': 10.89}, {'connected_gene': 'ZBTB6', 'score': 10.82}, {'connected_gene': 'RC3H2', 'score': 10.44}, {'connected_gene': 'PTGS1', 'score': 0.28}]
chr9 GH09I122099 122099068 122099800 0.94 [{'connected_gene': 'ENSG00000261094', 'score': 20.72}, {'connected_gene': 'ZBTB26', 'score': 14.16}, {'connected_gene': 'RC3H2', 'score': 10.0}, {'connected_gene': 'MRRF', 'score': 9.56}, {'connected_gene': 'RBM18', 'score': 9.56}, {'connected_gene': 'OR1K1', 'score': 9.27}, {'connected_gene': 'TTLL11', 'score': 8.35}, {'connected_gene': 'MIR4478', 'score': 0.34}]
chr9 GH09I122902 122902286 122906224 2.28 [{'connected_gene': 'GC09P122904', 'score': 550.77}, {'connected_gene': 'RC3H2', 'score': 550.77}, {'connected_gene': 'ZBTB26', 'score': 11.41}, {'connected_gene': 'SNORD90', 'score': 11.36}, {'connected_gene': 'MRRF', 'score': 9.71}, {'connected_gene': 'RABGAP1', 'score': 5.82}, {'connected_gene': 'MIR600HG', 'score': 4.33}, {'connected_gene': 'PIR42233', 'score': 0.39}]
chr9 GH09I122401 122401814 122404594 1.15 [{'connected_gene': 'ENSG00000229245', 'score': 550.77}, {'connected_gene': 'ENSG00000233616', 'score': 550.77}, {'connected_gene': 'ENSG00000261094', 'score': 13.64}, {'connected_gene': 'ZBTB6', 'score': 12.69}, {'connected_gene': 'ZBTB26', 'score': 11.67}, {'connected_gene': 'RC3H2', 'score': 10.7}, {'connected_gene': 'DAB2IP', 'score': 10.0}]
chr9 GH09I122844 122844972 122845223 0.4 [{'connected_gene': 'GC09M122847', 'score': 0.77}, {'connected_gene': 'GC09M122845', 'score': 0.77}, {'connected_gene': 'KRT18P67', 'score': 0.44}, {'connected_gene': 'RC3H2', 'score': 0.21}]

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