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
ENST00000422436 [[163027193, 163027590], [163029320, 163029394], [163029658, 163029731], [163030232, 163030297], [163031376, 163031476], [163039923, 163039978], [163044678, 163044873], [163045612, 163045682], [163046165, 163046264], [163051210, 163051258], [163054079, 163054250], [163054688, 163054808], [163055266, 163055336]] [[163054800, 163054808], [163055266, 163055336]]
ENST00000188790 [[163027199, 163027590], [163029320, 163029394], [163029658, 163029731], [163030232, 163030297], [163031376, 163031476], [163039923, 163039978], [163044678, 163044873], [163045612, 163045682], [163046165, 163046264], [163051210, 163051258], [163055266, 163055391], [163057075, 163057129], [163059381, 163059452], [163059550, 163059655], [163066461, 163066506], [163070447, 163070583], [163072407, 163072511], [163074495, 163074650], [163075572, 163075693], [163076362, 163076435], [163080117, 163080170], [163080975, 163081050], [163081992, 163082087], [163083032, 163083131], [163099417, 163099502], [163099831, 163100045]] [[163027488, 163027590], [163029320, 163029394], [163029658, 163029731], [163030232, 163030297], [163031376, 163031476], [163039923, 163039978], [163044678, 163044873], [163045612, 163045682], [163046165, 163046264], [163051210, 163051258], [163055266, 163055391], [163057075, 163057129], [163059381, 163059452], [163059550, 163059655], [163066461, 163066506], [163070447, 163070583], [163072407, 163072511], [163074495, 163074650], [163075572, 163075693], [163076362, 163076435], [163080117, 163080170], [163080975, 163081050], [163081992, 163082087], [163083032, 163083131], [163099417, 163099502], [163099831, 163099837]]
ENST00000443424 [[163027227, 163027590], [163029320, 163029394], [163029658, 163029731], [163030232, 163030297], [163031376, 163031476], [163039923, 163039978], [163044678, 163044873], [163045612, 163045682], [163046165, 163046264], [163051210, 163051258], [163055266, 163055391], [163057075, 163057129], [163059381, 163059452], [163059550, 163059655], [163066461, 163066506], [163070447, 163070583], [163072407, 163072511], [163074495, 163074650], [163075572, 163075693], [163076362, 163076435], [163080117, 163080170], [163081992, 163082087], [163083032, 163083131], [163099417, 163099502], [163099831, 163099966]] [[163027488, 163027590], [163029320, 163029394], [163029658, 163029731], [163030232, 163030297], [163031376, 163031476], [163039923, 163039978], [163044678, 163044873], [163045612, 163045682], [163046165, 163046264], [163051210, 163051258], [163055266, 163055391], [163057075, 163057129], [163059381, 163059452], [163059550, 163059655], [163066461, 163066506], [163070447, 163070583], [163072407, 163072511], [163074495, 163074650], [163075572, 163075693], [163076362, 163076435], [163080117, 163080170], [163081992, 163082087], [163083032, 163083131], [163099417, 163099502], [163099831, 163099837]]
ENST00000465424 [[163050068, 163050690], [163051210, 163051258], [163055266, 163055352]] None
ENST00000462608 [[163027193, 163027590], [163029320, 163029394], [163029564, 163029731], [163030232, 163030291]] [[163029647, 163029731], [163030232, 163030291]]
ENST00000480044 [[163027194, 163027590], [163029320, 163029394], [163029658, 163029731], [163030232, 163030297], [163031376, 163033179]] None
ENST00000461506 [[163029350, 163029394], [163029658, 163029731], [163030232, 163030297], [163031376, 163031476], [163039923, 163040093]] None
ENST00000497414 [[163044681, 163044873], [163045612, 163045682], [163046165, 163046264], [163051210, 163051547]] None
ENST00000465088 [[163055133, 163055391], [163057075, 163057129], [163059381, 163059452], [163059550, 163059655]] None
ENST00000480838 [[163066129, 163066506], [163070447, 163070583], [163072407, 163072511], [163074495, 163074650], [163075572, 163075693], [163076362, 163076435], [163080117, 163080170], [163080975, 163081050], [163081992, 163082087], [163099417, 163099502], [163099831, 163099923]] None
ENST00000447386 [[163075651, 163075693], [163076362, 163076435], [163080117, 163080170], [163080975, 163081050], [163081992, 163082087], [163083032, 163083131], [163099417, 163099558]] [[163075651, 163075693], [163076362, 163076435], [163080117, 163080170], [163080975, 163081050], [163081992, 163082087], [163083032, 163083131], [163099417, 163099445]]
ENST00000450031 [[163076366, 163076435], [163078102, 163078222], [163080117, 163080170], [163080975, 163081050], [163081992, 163082087], [163083032, 163083131], [163099417, 163099612]] [[163078206, 163078222], [163080117, 163080170], [163080975, 163081050], [163081992, 163082087], [163083032, 163083131], [163099417, 163099445]]
ENST00000493182 [[163099856, 163100010], [163101253, 163101661]] None
NM_004460 [[163027193, 163027590], [163029320, 163029394], [163029658, 163029731], [163030232, 163030297], [163031376, 163031476], [163039923, 163039978], [163044678, 163044873], [163045612, 163045682], [163046165, 163046264], [163051210, 163051258], [163055266, 163055391], [163057075, 163057129], [163059381, 163059452], [163059550, 163059655], [163066461, 163066506], [163070447, 163070583], [163072407, 163072511], [163074495, 163074650], [163075572, 163075693], [163076362, 163076435], [163080117, 163080170], [163080975, 163081050], [163081992, 163082087], [163083032, 163083131], [163099417, 163099502], [163099831, 163100067]] [[163027488, 163027590], [163029320, 163029394], [163029658, 163029731], [163030232, 163030297], [163031376, 163031476], [163039923, 163039978], [163044678, 163044873], [163045612, 163045682], [163046165, 163046264], [163051210, 163051258], [163055266, 163055391], [163057075, 163057129], [163059381, 163059452], [163059550, 163059655], [163066461, 163066506], [163070447, 163070583], [163072407, 163072511], [163074495, 163074650], [163075572, 163075693], [163076362, 163076435], [163080117, 163080170], [163080975, 163081050], [163081992, 163082087], [163083032, 163083131], [163099417, 163099502], [163099831, 163099837]]
NM_001291807 [[163027193, 163027590], [163029320, 163029394], [163029658, 163029731], [163030232, 163030297], [163031376, 163031476], [163039923, 163039978], [163044678, 163044873], [163045612, 163045682], [163046165, 163046264], [163051210, 163051258], [163055266, 163055391], [163057075, 163057129], [163059381, 163059452], [163059550, 163059655], [163066461, 163066506], [163070447, 163070583], [163072407, 163072511], [163074495, 163074650], [163075572, 163075693], [163076362, 163076435], [163080117, 163080170], [163081992, 163082087], [163083032, 163083131], [163099417, 163099502], [163099831, 163100067]] [[163027488, 163027590], [163029320, 163029394], [163029658, 163029731], [163030232, 163030297], [163031376, 163031476], [163039923, 163039978], [163044678, 163044873], [163045612, 163045682], [163046165, 163046264], [163051210, 163051258], [163055266, 163055391], [163057075, 163057129], [163059381, 163059452], [163059550, 163059655], [163066461, 163066506], [163070447, 163070583], [163072407, 163072511], [163074495, 163074650], [163075572, 163075693], [163076362, 163076435], [163080117, 163080170], [163081992, 163082087], [163083032, 163083131], [163099417, 163099502], [163099831, 163099837]]
Promoter
Chrom Start End Description
chr2 163099546 163099567 CAGE_peak_4_at_FAP_5end
chr2 163099885 163099963 CAGE_peak_1_at_FAP_5end
chr2 163099985 163099996 CAGE_peak_3_at_FAP_5end
chr2 163100045 163100071 CAGE_peak_2_at_FAP_5end
chr2 163101340 163101352 CAGE_peak_7_at_FAP_5end