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
ENST00000310926 [[133651539, 133653674], [133654617, 133654741], [133657272, 133657337], [133661448, 133661612], [133663938, 133664104], [133666099, 133666289], [133667379, 133667544], [133667736, 133667815], [133670051, 133670188], [133672506, 133672605], [133673809, 133674037], [133692506, 133692669], [133698324, 133698462], [133748550, 133748920]] [[133653556, 133653674], [133654617, 133654741], [133657272, 133657337], [133661448, 133661612], [133663938, 133664104], [133666099, 133666289], [133667379, 133667544], [133667736, 133667815], [133670051, 133670188], [133672506, 133672605], [133673809, 133674037], [133692506, 133692669], [133698324, 133698462], [133748550, 133748646]]
ENST00000493729 [[133653454, 133653674], [133654617, 133654741], [133657272, 133657337], [133661448, 133661612], [133663938, 133664104], [133666099, 133666289], [133667379, 133667544], [133667736, 133667815], [133670051, 133670188], [133672506, 133672605], [133692506, 133692669], [133698324, 133698462], [133748550, 133748758]] [[133653556, 133653674], [133654617, 133654741], [133657272, 133657337], [133661448, 133661612], [133663938, 133664104], [133666099, 133666289], [133667379, 133667544], [133667736, 133667815], [133670051, 133670188], [133672506, 133672605], [133692506, 133692669], [133698324, 133698462], [133748550, 133748646]]
ENST00000481359 [[133653482, 133653674], [133654617, 133654741], [133657272, 133657337], [133661448, 133661612], [133663938, 133664104], [133667379, 133667544], [133667736, 133667815], [133670051, 133670188], [133672506, 133672605], [133673809, 133674037], [133692506, 133692669], [133698324, 133698462], [133748550, 133748767]] [[133663961, 133664104], [133667379, 133667544], [133667736, 133667815], [133670051, 133670188], [133672506, 133672605], [133673809, 133674037], [133692506, 133692669], [133698324, 133698462], [133748550, 133748646]]
ENST00000462770 [[133661155, 133661612], [133663938, 133664104], [133666099, 133666289], [133667379, 133667544], [133692506, 133692669], [133698324, 133698462], [133748550, 133748769]] None
ENST00000464676 [[133669795, 133670188], [133672506, 133672605], [133673809, 133674037], [133692506, 133692669], [133698324, 133698462], [133717491, 133717630], [133748550, 133748769]] None
ENST00000478651 [[133674186, 133674219], [133692506, 133692669], [133698324, 133698462], [133748550, 133748769]] None
ENST00000477061 [[133667497, 133667544], [133667736, 133668060]] None
ENST00000478662 [[133698390, 133698462], [133770934, 133771028]] None
NM_005630 [[133651539, 133653674], [133654617, 133654741], [133657272, 133657337], [133661448, 133661612], [133663938, 133664104], [133666099, 133666289], [133667379, 133667544], [133667736, 133667815], [133670051, 133670188], [133672506, 133672605], [133673809, 133674037], [133692506, 133692669], [133698324, 133698462], [133748550, 133748920]] [[133653556, 133653674], [133654617, 133654741], [133657272, 133657337], [133661448, 133661612], [133663938, 133664104], [133666099, 133666289], [133667379, 133667544], [133667736, 133667815], [133670051, 133670188], [133672506, 133672605], [133673809, 133674037], [133692506, 133692669], [133698324, 133698462], [133748550, 133748646]]
Promoter
Chrom Start End Description
chr3 133667806 133667817 CAGE_peak_5_at_SLCO2A1_5end
chr3 133748762 133748778 CAGE_peak_1_at_SLCO2A1_5end
chr3 133748913 133748927 CAGE_peak_2_at_SLCO2A1_5end
chr3 133748943 133748955 CAGE_peak_3_at_SLCO2A1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I133967 133967809 133968154 0.39 [{'connected_gene': 'C3orf36', 'score': 27.1}, {'connected_gene': 'SLCO2A1', 'score': 4.55}, {'connected_gene': 'GC03M133943', 'score': 0.37}]
chr3 GH03I133979 133979348 133980454 0.38 [{'connected_gene': 'C3orf36', 'score': 10.66}, {'connected_gene': 'GC03M133943', 'score': 0.44}, {'connected_gene': 'SLCO2A1', 'score': 0.19}]
chr3 GH03I133962 133962517 133963441 0.46 [{'connected_gene': 'C3orf36', 'score': 11.01}, {'connected_gene': 'SLCO2A1', 'score': 10.49}, {'connected_gene': 'GC03M133943', 'score': 0.34}]
chr3 GH03I134030 134029035 134029156 0.39 [{'connected_gene': 'C3orf36', 'score': 31.12}, {'connected_gene': 'SLCO2A1', 'score': 23.85}, {'connected_gene': 'GC03M133943', 'score': 0.26}]
chr3 GH03I134083 134083683 134085842 0.2 [{'connected_gene': 'SLCO2A1', 'score': 11.83}, {'connected_gene': 'C3orf36', 'score': 9.78}, {'connected_gene': 'RYK', 'score': 4.45}, {'connected_gene': 'LOC105374117', 'score': 0.37}, {'connected_gene': 'GC03M134152', 'score': 0.2}]
chr3 GH03I134077 134077901 134079566 0.57 [{'connected_gene': 'SLCO2A1', 'score': 12.27}, {'connected_gene': 'C3orf36', 'score': 9.92}, {'connected_gene': 'LOC105374117', 'score': 0.44}, {'connected_gene': 'GC03M134152', 'score': 0.18}, {'connected_gene': 'RYK', 'score': 0.09}]
chr3 GH03I134161 134161917 134162046 0.49 [{'connected_gene': 'SLCO2A1', 'score': 10.87}, {'connected_gene': 'C3orf36', 'score': 10.22}, {'connected_gene': 'GC03M134152', 'score': 0.44}, {'connected_gene': 'HMGB3P14', 'score': 0.44}, {'connected_gene': 'RYK', 'score': 0.17}]
chr3 GH03I133942 133942416 133946705 1.06 [{'connected_gene': 'SLCO2A1', 'score': 10.36}, {'connected_gene': 'C3orf36', 'score': 0.39}, {'connected_gene': 'GC03M133943', 'score': 0.26}]
chr3 GH03I134003 134003137 134003286 0.49 [{'connected_gene': 'SLCO2A1', 'score': 11.78}, {'connected_gene': 'C3orf36', 'score': 10.15}, {'connected_gene': 'GC03M133943', 'score': 0.37}]
chr3 GH03I133991 133991317 133992182 0.58 [{'connected_gene': 'SLCO2A1', 'score': 10.94}, {'connected_gene': 'C3orf36', 'score': 10.8}, {'connected_gene': 'GC03M133943', 'score': 0.77}]
chr3 GH03I133992 133992517 133992666 0.31 [{'connected_gene': 'SLCO2A1', 'score': 10.64}, {'connected_gene': 'C3orf36', 'score': 10.03}, {'connected_gene': 'GC03M133943', 'score': 0.44}]
chr3 GH03I134008 134008013 134010154 0.84 [{'connected_gene': 'SLCO2A1', 'score': 11.45}, {'connected_gene': 'C3orf36', 'score': 10.05}, {'connected_gene': 'GC03M133943', 'score': 0.34}]
chr3 GH03I134091 134091682 134095430 1 [{'connected_gene': 'SLCO2A1', 'score': 13.0}, {'connected_gene': 'RYK', 'score': 6.72}, {'connected_gene': 'LOC105374117', 'score': 0.34}, {'connected_gene': 'GC03M134152', 'score': 0.21}]
chr3 GH03I134090 134090183 134090306 0.2 [{'connected_gene': 'SLCO2A1', 'score': 11.64}, {'connected_gene': 'LOC105374117', 'score': 0.34}, {'connected_gene': 'GC03M134152', 'score': 0.21}, {'connected_gene': 'RYK', 'score': 0.1}]
chr3 GH03I134037 134037172 134040519 0.69 [{'connected_gene': 'SLCO2A1', 'score': 5.22}, {'connected_gene': 'GC03M133943', 'score': 0.23}]
chr3 GH03I134029 134029445 134030201 1.8 [{'connected_gene': 'SLCO2A1', 'score': 562.62}, {'connected_gene': 'GC03M133943', 'score': 0.26}]
chr3 GH03I134496 134496167 134496990 1.13 [{'connected_gene': 'ANAPC13', 'score': 65.12}, {'connected_gene': 'RYK', 'score': 13.02}, {'connected_gene': 'SLCO2A1', 'score': 4.76}, {'connected_gene': 'LOC100421154', 'score': 0.39}, {'connected_gene': 'CEP63', 'score': 0.39}]
chr3 GH03I134056 134056583 134058679 0.75 [{'connected_gene': 'LINC02000', 'score': 550.77}, {'connected_gene': 'RYK', 'score': 12.28}, {'connected_gene': 'TFP1', 'score': 10.27}, {'connected_gene': 'TOPBP1', 'score': 10.24}, {'connected_gene': 'SLCO2A1', 'score': 0.44}]
chr3 GH03I133986 133986356 133990873 0.65 [{'connected_gene': 'GC03M133943', 'score': 550.77}, {'connected_gene': 'SLCO2A1', 'score': 10.94}, {'connected_gene': 'C3orf36', 'score': 10.81}]