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
ENST00000496484 [[15083966, 15084529], [15091214, 15091474]] None
ENST00000474866 [[15086605, 15086750], [15091214, 15091609]] None
ENST00000253686 [[15090024, 15094140], [15094886, 15094974], [15100875, 15100982], [15106567, 15106842]] [[15093947, 15094140], [15094886, 15094974], [15100875, 15100982], [15106567, 15106701]]
ENST00000449354 [[15090718, 15091442], [15094886, 15094974], [15100875, 15100982], [15106567, 15106767]] [[15091333, 15091442], [15094886, 15094974], [15100875, 15100982], [15106567, 15106701]]
ENST00000420267 [[15091387, 15091442], [15094797, 15094974], [15100875, 15100982], [15106567, 15106818]] [[15094882, 15094974], [15100875, 15100982], [15106567, 15106701]]
ENST00000444840 [[15093223, 15094140], [15100875, 15100982], [15106567, 15106824]] [[15093991, 15094140], [15100875, 15100982], [15106567, 15106701]]
ENST00000447299 [[15093941, 15094140], [15094797, 15094974], [15100875, 15100982], [15106567, 15106807]] [[15094882, 15094974], [15100875, 15100982], [15106567, 15106701]]
NR_135246 [[15083757, 15084529], [15091214, 15094140], [15094797, 15094974], [15100875, 15100982], [15106567, 15106844]] None
NR_135247 [[15083757, 15084529], [15091214, 15094140], [15094886, 15094974], [15100875, 15100982], [15106567, 15106844]] None
NM_022497 [[15090018, 15094140], [15094886, 15094974], [15100875, 15100982], [15106567, 15106844]] [[15093947, 15094140], [15094886, 15094974], [15100875, 15100982], [15106567, 15106701]]
Promoter
Chrom Start End Description
chr3 15106725 15106730 CAGE_peak_4_at_MRPS25_5end
chr3 15106747 15106830 CAGE_peak_1_at_MRPS25_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I014177 14177306 14180101 2.1 [{'connected_gene': 'XPC', 'score': 582.37}, {'connected_gene': 'LSM3', 'score': 572.82}, {'connected_gene': 'CCDC174', 'score': 32.55}, {'connected_gene': 'CHCHD4', 'score': 21.44}, {'connected_gene': 'ENSG00000228242', 'score': 19.06}, {'connected_gene': 'TMEM43', 'score': 16.95}, {'connected_gene': 'NR2C2', 'score': 14.06}, {'connected_gene': 'MRPS25', 'score': 9.72}]
chr3 GH03I014946 14946230 14950923 2.28 [{'connected_gene': 'NR2C2', 'score': 592.53}, {'connected_gene': 'FGD5-AS1', 'score': 561.35}, {'connected_gene': 'CCDC174', 'score': 39.72}, {'connected_gene': 'SH3BP5-AS1', 'score': 25.75}, {'connected_gene': 'ENSG00000228242', 'score': 18.79}, {'connected_gene': 'CAPN7', 'score': 16.5}, {'connected_gene': 'EAF1-AS1', 'score': 12.53}, {'connected_gene': 'HACL1', 'score': 12.41}, {'connected_gene': 'XPC', 'score': 11.97}, {'connected_gene': 'METTL6', 'score': 10.51}, {'connected_gene': 'MRPS25', 'score': 6.18}, {'connected_gene': 'RBSN', 'score': 5.19}, {'connected_gene': 'RPS3AP53', 'score': 4.72}, {'connected_gene': 'PIR42856', 'score': 0.39}]
chr3 GH03I014401 14401623 14406868 2.62 [{'connected_gene': 'SLC6A6', 'score': 581.22}, {'connected_gene': 'CCDC174', 'score': 21.76}, {'connected_gene': 'NR2C2', 'score': 14.74}, {'connected_gene': 'MRPS25', 'score': 12.09}, {'connected_gene': 'XPC', 'score': 11.87}, {'connected_gene': 'SH3BP5-AS1', 'score': 11.68}, {'connected_gene': 'ENSG00000228242', 'score': 11.51}, {'connected_gene': 'CAPN7', 'score': 9.86}, {'connected_gene': 'GC03P014418', 'score': 0.39}]
chr3 GH03I015063 15063061 15066005 2.04 [{'connected_gene': 'MRPS25', 'score': 556.23}, {'connected_gene': 'PIRC12', 'score': 550.77}, {'connected_gene': 'SH3BP5-AS1', 'score': 30.47}, {'connected_gene': 'CCDC174', 'score': 28.69}, {'connected_gene': 'ENSG00000228242', 'score': 26.61}, {'connected_gene': 'NR2C2', 'score': 14.16}, {'connected_gene': 'XPC', 'score': 11.97}, {'connected_gene': 'FGD5-AS1', 'score': 9.55}, {'connected_gene': 'GC03M015052', 'score': 0.39}, {'connected_gene': 'PIR50374', 'score': 0.39}]
chr3 GH03I015097 15097647 15100022 2.14 [{'connected_gene': 'RBSN', 'score': 550.77}, {'connected_gene': 'GC03M015143', 'score': 550.77}, {'connected_gene': 'NR2C2', 'score': 66.49}, {'connected_gene': 'CCDC174', 'score': 58.67}, {'connected_gene': 'SH3BP5-AS1', 'score': 50.03}, {'connected_gene': 'CAPN7', 'score': 48.58}, {'connected_gene': 'ENSG00000228242', 'score': 38.11}, {'connected_gene': 'XPC', 'score': 32.56}, {'connected_gene': 'MRPS25', 'score': 12.36}, {'connected_gene': 'HACL1', 'score': 10.72}, {'connected_gene': 'FGD5', 'score': 9.94}, {'connected_gene': 'EAF1-AS1', 'score': 9.88}, {'connected_gene': 'TMEM43', 'score': 9.7}, {'connected_gene': 'FGD5-AS1', 'score': 6.97}]
chr3 GH03I015600 15600379 15602876 2.29 [{'connected_gene': 'HACL1', 'score': 570.93}, {'connected_gene': 'BTD', 'score': 550.77}, {'connected_gene': 'CCDC174', 'score': 71.03}, {'connected_gene': 'NR2C2', 'score': 50.54}, {'connected_gene': 'SH3BP5-AS1', 'score': 46.56}, {'connected_gene': 'CAPN7', 'score': 27.42}, {'connected_gene': 'ENSG00000270409', 'score': 18.94}, {'connected_gene': 'EAF1-AS1', 'score': 12.61}, {'connected_gene': 'MRPS25', 'score': 9.72}, {'connected_gene': 'COLQ', 'score': 4.88}]
chr3 GH03I015054 15054780 15055797 0.74 [{'connected_gene': 'CAPN7', 'score': 9.81}, {'connected_gene': 'COL6A4P1', 'score': 9.81}, {'connected_gene': 'FGD5-AS1', 'score': 9.35}, {'connected_gene': 'GC03M015052', 'score': 0.77}, {'connected_gene': 'PIR50374', 'score': 0.77}, {'connected_gene': 'MRPS25', 'score': 0.39}, {'connected_gene': 'PIRC12', 'score': 0.39}]
chr3 GH03I015049 15049989 15053528 0.99 [{'connected_gene': 'GC03M015052', 'score': 550.77}, {'connected_gene': 'PIR43410', 'score': 550.77}, {'connected_gene': 'PIR51108', 'score': 550.77}, {'connected_gene': 'PIR37417', 'score': 550.77}, {'connected_gene': 'PIR32672', 'score': 550.77}, {'connected_gene': 'PIR50374', 'score': 550.77}, {'connected_gene': 'COL6A4P1', 'score': 10.11}, {'connected_gene': 'CAPN7', 'score': 10.11}, {'connected_gene': 'FGD5-AS1', 'score': 9.86}, {'connected_gene': 'MRPS25', 'score': 0.39}, {'connected_gene': 'PIRC12', 'score': 0.39}, {'connected_gene': 'NR2C2', 'score': 0.15}]
chr3 GH03I014958 14958110 14960185 0.66 [{'connected_gene': 'GC03P014960', 'score': 550.77}, {'connected_gene': 'PIR42856', 'score': 550.77}, {'connected_gene': 'FGD5-AS1', 'score': 10.11}, {'connected_gene': 'RPS24P10', 'score': 9.15}, {'connected_gene': 'MRPS25', 'score': 6.27}, {'connected_gene': 'NR2C2', 'score': 0.39}]