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
ENST00000561312 [[81239666, 81241239], [81244299, 81244637], [81271271, 81271818], [81274290, 81274523], [81281919, 81282169]] [[81271559, 81271818], [81274290, 81274523], [81281919, 81282132]]
ENST00000422879 [[81240426, 81241239], [81244299, 81244637], [81281919, 81282160]] [[81244433, 81244637], [81281919, 81282132]]
ENST00000560244 [[81240842, 81241239], [81244299, 81244637], [81262802, 81263000], [81271106, 81271154]] None
ENST00000560189 [[81241016, 81241239], [81244299, 81244637], [81271106, 81271481]] None
ENST00000559537 [[81244415, 81244637], [81245277, 81245377], [81281919, 81282136]] [[81245347, 81245377], [81281919, 81282132]]
ENST00000261758 [[81268094, 81271818], [81274290, 81274523], [81281919, 81282219]] [[81271559, 81271818], [81274290, 81274523], [81281919, 81282132]]
Promoter
Chrom Start End Description
chr15 81282133 81282189 CAGE_peak_1_at_MESDC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I080870 80870036 80872146 0.38 [{'connected_gene': 'MIR549A', 'score': 12.12}, {'connected_gene': 'MESD', 'score': 10.43}, {'connected_gene': 'ARNT2', 'score': 9.67}, {'connected_gene': 'GC15M080848', 'score': 0.44}, {'connected_gene': 'GC15P080893', 'score': 0.34}, {'connected_gene': 'CEMIP', 'score': 0.16}]
chr15 GH15I080955 80955505 80956201 1.47 [{'connected_gene': 'TLNRD1', 'score': 3.69}, {'connected_gene': 'STARD5', 'score': 1.71}, {'connected_gene': 'ENSG00000259546', 'score': 0.44}, {'connected_gene': 'GC15M080956', 'score': 0.44}, {'connected_gene': 'MESD', 'score': 0.29}]
chr15 GH15I080984 80984192 80986099 1.27 [{'connected_gene': 'TLNRD1', 'score': 18.9}, {'connected_gene': 'MESD', 'score': 11.3}, {'connected_gene': 'STARD5', 'score': 4.49}, {'connected_gene': 'GC15M080956', 'score': 0.34}]
chr15 GH15I080999 80999331 81003514 2.22 [{'connected_gene': 'TLNRD1', 'score': 556.8}, {'connected_gene': 'GC15M081000', 'score': 550.77}, {'connected_gene': 'ENSG00000277782', 'score': 550.77}, {'connected_gene': 'PIR45812', 'score': 550.77}, {'connected_gene': 'MESD', 'score': 12.74}]
chr15 GH15I080970 80970140 80970329 0.65 [{'connected_gene': 'TLNRD1', 'score': 5.55}, {'connected_gene': 'GC15M080956', 'score': 0.44}, {'connected_gene': 'MESD', 'score': 0.37}]
chr15 GH15I080966 80966494 80966941 0.2 [{'connected_gene': 'TLNRD1', 'score': 11.1}, {'connected_gene': 'MESD', 'score': 10.29}, {'connected_gene': 'GC15M080956', 'score': 0.77}]
chr15 GH15I080967 80967167 80968851 0.46 [{'connected_gene': 'TLNRD1', 'score': 16.26}, {'connected_gene': 'MESD', 'score': 10.49}, {'connected_gene': 'GC15M080956', 'score': 0.77}]
chr15 GH15I080451 80451160 80451309 0.63 [{'connected_gene': 'CEMIP', 'score': 11.38}, {'connected_gene': 'ARNT2', 'score': 11.06}, {'connected_gene': 'MESD', 'score': 10.68}, {'connected_gene': 'GC15M080442', 'score': 0.44}, {'connected_gene': 'GC15P080469', 'score': 0.37}]
chr15 GH15I080454 80454582 80456489 0.95 [{'connected_gene': 'CEMIP', 'score': 11.45}, {'connected_gene': 'ARNT2', 'score': 11.05}, {'connected_gene': 'MESD', 'score': 10.68}, {'connected_gene': 'GC15M080442', 'score': 0.44}, {'connected_gene': 'GC15P080469', 'score': 0.39}]
chr15 GH15I081265 81265360 81265489 0.43 [{'connected_gene': 'TMC3', 'score': 10.78}, {'connected_gene': 'MESD', 'score': 10.35}, {'connected_gene': 'GC15P081268', 'score': 0.77}, {'connected_gene': 'GC15M081220', 'score': 0.26}, {'connected_gene': 'IL16', 'score': 0.14}]
chr15 GH15I080934 80934297 80935430 0.69 [{'connected_gene': 'MESD', 'score': 17.38}, {'connected_gene': 'ARNT2', 'score': 11.89}, {'connected_gene': 'TLNRD1', 'score': 5.99}, {'connected_gene': 'GC15M080926', 'score': 0.77}, {'connected_gene': 'GC15P080943', 'score': 0.44}, {'connected_gene': 'ENSG00000259546', 'score': 0.39}, {'connected_gene': 'CEMIP', 'score': 0.1}]
chr15 GH15I080928 80928674 80930343 0.72 [{'connected_gene': 'MESD', 'score': 7.35}, {'connected_gene': 'TLNRD1', 'score': 5.66}, {'connected_gene': 'GC15M080926', 'score': 0.77}, {'connected_gene': 'ENSG00000259546', 'score': 0.37}, {'connected_gene': 'ENSG00000259649', 'score': 0.37}, {'connected_gene': 'CEMIP', 'score': 0.1}]
chr15 GH15I080988 80988013 80992193 2.26 [{'connected_gene': 'MESD', 'score': 562.54}, {'connected_gene': 'TLNRD1', 'score': 6.46}, {'connected_gene': 'ENSG00000260619', 'score': 0.77}]
chr15 GH15I080936 80936400 80936549 0.2 [{'connected_gene': 'MESD', 'score': 10.95}, {'connected_gene': 'GC15M080926', 'score': 0.77}, {'connected_gene': 'GC15P080943', 'score': 0.44}, {'connected_gene': 'ENSG00000259546', 'score': 0.39}, {'connected_gene': 'CEMIP', 'score': 0.1}]
chr15 GH15I080944 80944719 80948887 0.46 [{'connected_gene': 'MESD', 'score': 9.09}, {'connected_gene': 'ENSG00000259546', 'score': 0.77}, {'connected_gene': 'GC15P080943', 'score': 0.77}, {'connected_gene': 'CEMIP', 'score': 0.1}]
chr15 GH15I081014 81014075 81018754 0.49 [{'connected_gene': 'MESD', 'score': 23.43}, {'connected_gene': 'GC15P081022', 'score': 0.44}, {'connected_gene': 'CFAP161', 'score': 0.44}]
chr15 GH15I080956 80956990 80958081 0.46 [{'connected_gene': 'MESD', 'score': 8.35}, {'connected_gene': 'ENSG00000259546', 'score': 0.44}, {'connected_gene': 'GC15M080956', 'score': 0.44}]
chr15 GH15I080987 80986616 80986967 0.2 [{'connected_gene': 'MESD', 'score': 10.83}, {'connected_gene': 'GC15M080956', 'score': 0.34}]
chr15 GH15I080977 80977140 80977943 0.76 [{'connected_gene': 'MESD', 'score': 10.86}, {'connected_gene': 'GC15M080956', 'score': 0.39}]
chr15 GH15I080986 80986140 80986289 0.49 [{'connected_gene': 'MESD', 'score': 0.77}, {'connected_gene': 'GC15M080956', 'score': 0.34}]
chr15 GH15I080978 80978800 80978949 0.73 [{'connected_gene': 'MESD', 'score': 0.39}, {'connected_gene': 'GC15M080956', 'score': 0.39}]
chr15 GH15I081022 81022601 81025399 1.6 [{'connected_gene': 'GC15P081022', 'score': 550.77}, {'connected_gene': 'TLNRD1', 'score': 46.11}, {'connected_gene': 'MESD', 'score': 11.99}, {'connected_gene': 'STARD5', 'score': 6.74}, {'connected_gene': 'GC15M081029', 'score': 0.44}, {'connected_gene': 'CFAP161', 'score': 0.37}]
chr15 GH15I081029 81029400 81030601 0.97 [{'connected_gene': 'GC15M081029', 'score': 550.77}, {'connected_gene': 'TLNRD1', 'score': 36.27}, {'connected_gene': 'MESD', 'score': 22.14}, {'connected_gene': 'STARD5', 'score': 6.66}, {'connected_gene': 'GC15P081022', 'score': 0.44}, {'connected_gene': 'CFAP161', 'score': 0.34}]
chr15 GH15I081071 81071180 81071329 0.2 [{'connected_gene': 'GC15P081073', 'score': 550.77}, {'connected_gene': 'MESD', 'score': 11.09}, {'connected_gene': 'TLNRD1', 'score': 10.75}, {'connected_gene': 'ENSG00000279834', 'score': 0.39}, {'connected_gene': 'CFAP161', 'score': 0.21}]
chr15 GH15I080943 80943360 80943509 0.94 [{'connected_gene': 'GC15P080943', 'score': 550.77}, {'connected_gene': 'MESD', 'score': 8.0}, {'connected_gene': 'ENSG00000259546', 'score': 0.44}, {'connected_gene': 'GC15M080926', 'score': 0.39}, {'connected_gene': 'CEMIP', 'score': 0.1}]
chr15 GH15I081268 81268501 81270048 0.46 [{'connected_gene': 'GC15P081268', 'score': 550.77}, {'connected_gene': 'MESD', 'score': 11.48}, {'connected_gene': 'IL16', 'score': 5.73}, {'connected_gene': 'PIR39910', 'score': 0.31}]
chr15 GH15I081266 81265601 81266748 1.07 [{'connected_gene': 'GC15P081268', 'score': 550.77}, {'connected_gene': 'MESD', 'score': 11.48}, {'connected_gene': 'TMC3', 'score': 10.78}, {'connected_gene': 'IL16', 'score': 6.28}, {'connected_gene': 'GC15M081220', 'score': 0.26}]
chr15 GH15I080954 80953794 80955189 0.81 [{'connected_gene': 'ENSG00000259546', 'score': 0.44}, {'connected_gene': 'GC15M080956', 'score': 0.44}, {'connected_gene': 'MESD', 'score': 0.28}]
chr15 GH15I080953 80953620 80953769 0.38 [{'connected_gene': 'ENSG00000259546', 'score': 0.77}, {'connected_gene': 'GC15M080956', 'score': 0.39}, {'connected_gene': 'MESD', 'score': 0.28}]
chr15 GH15I081887 81887577 81889889 1.01 [{'connected_gene': 'ENSG00000259649', 'score': 13.97}, {'connected_gene': 'SNHG21', 'score': 12.94}, {'connected_gene': 'MESD', 'score': 10.44}, {'connected_gene': 'WHAMM', 'score': 10.04}, {'connected_gene': 'GC15M081842', 'score': 0.39}, {'connected_gene': 'GC15P081908', 'score': 0.37}]