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
ENST00000498273 [[62660502, 62660593], [62662106, 62662200], [62672190, 62673308], [62675454, 62678000]] [[62672300, 62673308], [62675454, 62677044]]
NM_019079 [[62660473, 62660593], [62662106, 62662200], [62672190, 62673308], [62675454, 62678000]] [[62672300, 62673308], [62675454, 62677044]]
NM_001164835 [[62660473, 62660593], [62662106, 62662200], [62669118, 62669229], [62672190, 62673308], [62675454, 62678000]] [[62672300, 62673308], [62675454, 62677044]]
Promoter
Chrom Start End Description
chr1 62660375 62660393 CAGE_peak_4_at_L1TD1_5end
chr1 62660484 62660495 CAGE_peak_3_at_L1TD1_5end
chr1 62660501 62660564 CAGE_peak_1_at_L1TD1_5end
chr1 62672541 62672554 CAGE_peak_2_at_L1TD1_5end
chr1 62672658 62672669 CAGE_peak_5_at_L1TD1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I062762 62760751 62761587 0.46 [{'connected_gene': 'ATG4C', 'score': 22.03}, {'connected_gene': 'L1TD1', 'score': 4.82}, {'connected_gene': 'ENSG00000235545', 'score': 0.19}]
chr1 GH01I062295 62295489 62296762 0.74 [{'connected_gene': 'TM2D1', 'score': 5.38}, {'connected_gene': 'L1TD1', 'score': 4.87}, {'connected_gene': 'GC01M062299', 'score': 0.77}, {'connected_gene': 'KANK4', 'score': 0.34}, {'connected_gene': 'GC01M062237', 'score': 0.22}]
chr1 GH01I061966 61966167 61967578 0.77 [{'connected_gene': 'USP1', 'score': 12.65}, {'connected_gene': 'ENSG00000270742', 'score': 12.61}, {'connected_gene': 'L1TD1', 'score': 4.67}, {'connected_gene': 'PATJ', 'score': 4.47}, {'connected_gene': 'GC01P061916', 'score': 0.23}, {'connected_gene': 'LAMTOR5P1', 'score': 0.19}]
chr1 GH01I062232 62232859 62233058 0.56 [{'connected_gene': 'USP1', 'score': 16.97}, {'connected_gene': 'KANK4', 'score': 14.75}, {'connected_gene': 'L1TD1', 'score': 4.19}, {'connected_gene': 'GC01M062237', 'score': 0.44}, {'connected_gene': 'GC01P062219', 'score': 0.39}]
chr1 GH01I062179 62179926 62184183 0.8 [{'connected_gene': 'L1TD1', 'score': 23.81}, {'connected_gene': 'KANK4', 'score': 11.45}, {'connected_gene': 'PATJ', 'score': 10.22}, {'connected_gene': 'PIGPP2', 'score': 0.44}, {'connected_gene': 'GC01P062128', 'score': 0.23}]
chr1 GH01I062307 62307577 62309047 0.75 [{'connected_gene': 'L1TD1', 'score': 4.47}, {'connected_gene': 'RNU6-371P', 'score': 0.39}, {'connected_gene': 'KANK4', 'score': 0.39}]
chr1 GH01I062175 62175689 62175898 0.59 [{'connected_gene': 'L1TD1', 'score': 5.12}, {'connected_gene': 'PIGPP2', 'score': 0.39}, {'connected_gene': 'GC01P062128', 'score': 0.25}, {'connected_gene': 'PATJ', 'score': 0.04}]
chr1 GH01I062176 62176388 62178135 0.58 [{'connected_gene': 'L1TD1', 'score': 22.74}, {'connected_gene': 'PATJ', 'score': 5.65}, {'connected_gene': 'PIGPP2', 'score': 0.39}, {'connected_gene': 'GC01P062128', 'score': 0.25}]
chr1 GH01I062194 62194129 62199925 1.76 [{'connected_gene': 'L1TD1', 'score': 587.38}, {'connected_gene': 'GC01P062196', 'score': 550.77}, {'connected_gene': 'PATJ', 'score': 10.4}, {'connected_gene': 'GC01P062201', 'score': 0.77}]
chr1 GH01I062233 62233109 62233258 0.43 [{'connected_gene': 'L1TD1', 'score': 5.63}, {'connected_gene': 'GC01M062237', 'score': 0.44}, {'connected_gene': 'GC01P062219', 'score': 0.39}]
chr1 GH01I062228 62228275 62231835 1.04 [{'connected_gene': 'L1TD1', 'score': 6.93}, {'connected_gene': 'GC01M062237', 'score': 0.44}, {'connected_gene': 'GC01P062219', 'score': 0.39}]
chr1 GH01I062285 62285935 62287261 0.98 [{'connected_gene': 'KANK4', 'score': 12.16}, {'connected_gene': 'L1TD1', 'score': 6.24}, {'connected_gene': 'GC01M062299', 'score': 0.39}, {'connected_gene': 'GC01M062237', 'score': 0.25}]
chr1 GH01I062288 62288369 62288518 0.46 [{'connected_gene': 'KANK4', 'score': 12.16}, {'connected_gene': 'L1TD1', 'score': 6.05}, {'connected_gene': 'GC01M062299', 'score': 0.44}, {'connected_gene': 'GC01M062237', 'score': 0.25}]
chr1 GH01I062271 62271579 62272835 0.74 [{'connected_gene': 'KANK4', 'score': 17.71}, {'connected_gene': 'RNU6-371P', 'score': 12.05}, {'connected_gene': 'L1TD1', 'score': 5.02}, {'connected_gene': 'GC01M062299', 'score': 0.31}, {'connected_gene': 'GC01M062237', 'score': 0.29}]
chr1 GH01I062263 62263270 62263581 0.31 [{'connected_gene': 'RNU6-371P', 'score': 12.09}, {'connected_gene': 'KANK4', 'score': 11.78}, {'connected_gene': 'L1TD1', 'score': 5.59}, {'connected_gene': 'GC01M062237', 'score': 0.34}, {'connected_gene': 'GC01M062299', 'score': 0.29}]
chr1 GH01I062274 62274110 62275490 0.2 [{'connected_gene': 'RNU6-371P', 'score': 12.08}, {'connected_gene': 'KANK4', 'score': 11.61}, {'connected_gene': 'L1TD1', 'score': 6.14}, {'connected_gene': 'GC01M062299', 'score': 0.34}, {'connected_gene': 'GC01M062237', 'score': 0.28}]
chr1 GH01I062298 62298899 62300886 0.67 [{'connected_gene': 'RNU6-371P', 'score': 550.77}, {'connected_gene': 'GC01M062299', 'score': 550.77}, {'connected_gene': 'KANK4', 'score': 6.73}, {'connected_gene': 'L1TD1', 'score': 5.87}]
chr1 GH01I062040 62040569 62041568 0.57 [{'connected_gene': 'PATJ', 'score': 10.6}, {'connected_gene': 'L1TD1', 'score': 4.43}, {'connected_gene': 'LAMTOR5P1', 'score': 0.77}, {'connected_gene': 'RN7SL180P', 'score': 0.29}]
chr1 GH01I062236 62236929 62238318 0.89 [{'connected_gene': 'GC01M062237', 'score': 550.77}, {'connected_gene': 'L1TD1', 'score': 5.73}, {'connected_gene': 'GC01P062219', 'score': 0.37}, {'connected_gene': 'KANK4', 'score': 0.18}]
chr1 GH01I062213 62213221 62213478 0.31 [{'connected_gene': 'ENSG00000200174', 'score': 550.77}, {'connected_gene': 'GC01P062212', 'score': 550.77}, {'connected_gene': 'L1TD1', 'score': 10.89}, {'connected_gene': 'GC01P062219', 'score': 0.44}]
chr1 GH01I062202 62202412 62203153 0.31 [{'connected_gene': 'GC01P062201', 'score': 550.77}, {'connected_gene': 'PATJ', 'score': 10.4}, {'connected_gene': 'L1TD1', 'score': 7.13}, {'connected_gene': 'ENSG00000237227', 'score': 0.44}]