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
ENST00000509793 [[110834039, 110834618], [110862101, 110862301], [110864409, 110864591], [110864997, 110865225], [110866228, 110866431], [110882022, 110882145], [110883018, 110883141], [110884328, 110884454], [110885556, 110885693], [110890126, 110890275], [110895858, 110895963], [110897167, 110897391], [110901127, 110901295], [110901981, 110902131], [110904577, 110904697], [110908899, 110909016], [110909739, 110909865], [110914402, 110914525], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110929307, 110929386], [110932357, 110933150]] [[110834491, 110834618], [110862101, 110862301], [110864409, 110864591], [110864997, 110865225], [110866228, 110866431], [110882022, 110882145], [110883018, 110883141], [110884328, 110884454], [110885556, 110885693], [110890126, 110890275], [110895858, 110895963], [110897167, 110897391], [110901127, 110901295], [110901981, 110902131], [110904577, 110904697], [110908899, 110909016], [110909739, 110909865], [110914402, 110914525], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110929307, 110929386], [110932357, 110932611]]
ENST00000265171 [[110834046, 110834618], [110862101, 110862301], [110864409, 110864591], [110864997, 110865225], [110866228, 110866431], [110880467, 110880593], [110882022, 110882145], [110883018, 110883141], [110884328, 110884454], [110885556, 110885693], [110890126, 110890275], [110895858, 110895963], [110897167, 110897391], [110901127, 110901295], [110901981, 110902131], [110904577, 110904697], [110908899, 110909016], [110909739, 110909865], [110914402, 110914525], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110929307, 110929386], [110932357, 110933422]] [[110834491, 110834618], [110862101, 110862301], [110864409, 110864591], [110864997, 110865225], [110866228, 110866431], [110880467, 110880593], [110882022, 110882145], [110883018, 110883141], [110884328, 110884454], [110885556, 110885693], [110890126, 110890275], [110895858, 110895963], [110897167, 110897391], [110901127, 110901295], [110901981, 110902131], [110904577, 110904697], [110908899, 110909016], [110909739, 110909865], [110914402, 110914525], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110929307, 110929386], [110932357, 110932611]]
ENST00000503392 [[110834396, 110834618], [110862101, 110862301], [110864409, 110864591], [110864997, 110865225], [110866228, 110866431], [110880467, 110880593], [110882022, 110882145], [110883018, 110883141], [110884328, 110884454], [110885556, 110885693], [110890126, 110890275], [110895858, 110895963], [110897167, 110897391], [110901127, 110901295], [110901981, 110902131], [110904577, 110904697], [110908899, 110909016], [110909739, 110909865], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110929307, 110929386], [110932357, 110932657]] [[110834491, 110834618], [110862101, 110862301], [110864409, 110864591], [110864997, 110865225], [110866228, 110866431], [110880467, 110880593], [110882022, 110882145], [110883018, 110883141], [110884328, 110884454], [110885556, 110885693], [110890126, 110890275], [110895858, 110895963], [110897167, 110897391], [110901127, 110901295], [110901981, 110902131], [110904577, 110904697], [110908899, 110909016], [110909739, 110909865], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110929307, 110929386], [110932357, 110932611]]
ENST00000502723 [[110861931, 110862301], [110864409, 110864591], [110864997, 110865128]] None
ENST00000504633 [[110880289, 110880593], [110882022, 110882145], [110883018, 110883141], [110884328, 110884362]] None
ENST00000502579 [[110889960, 110890275], [110895858, 110895963], [110897167, 110897327]] None
ENST00000541061 [[110897242, 110897391], [110898409, 110898692]] None
ENST00000511228 [[110901796, 110902131], [110904577, 110904697], [110908899, 110909011]] None
ENST00000509996 [[110901832, 110902131], [110904577, 110904697], [110914402, 110914525], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110932357, 110932845]] None
ENST00000544918 [[110925402, 110925778], [110932357, 110932754]] None
ENST00000537316 [[110925656, 110925778], [110929307, 110929386], [110932357, 110932647]] None
ENST00000540840 [[110925656, 110925778], [110932357, 110932464], [110933281, 110933376]] None
NM_001178131 [[110834039, 110834618], [110862101, 110862301], [110864409, 110864591], [110864997, 110865225], [110866228, 110866431], [110882022, 110882145], [110883018, 110883141], [110884328, 110884454], [110885556, 110885693], [110890126, 110890275], [110895858, 110895963], [110897167, 110897391], [110901127, 110901295], [110901981, 110902131], [110904577, 110904697], [110908899, 110909016], [110909739, 110909865], [110914402, 110914525], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110929307, 110929386], [110932357, 110934235]] [[110834491, 110834618], [110862101, 110862301], [110864409, 110864591], [110864997, 110865225], [110866228, 110866431], [110882022, 110882145], [110883018, 110883141], [110884328, 110884454], [110885556, 110885693], [110890126, 110890275], [110895858, 110895963], [110897167, 110897391], [110901127, 110901295], [110901981, 110902131], [110904577, 110904697], [110908899, 110909016], [110909739, 110909865], [110914402, 110914525], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110929307, 110929386], [110932357, 110932611]]
NM_001178130 [[110834039, 110834618], [110862101, 110862301], [110864409, 110864591], [110864997, 110865225], [110866228, 110866431], [110880467, 110880593], [110882022, 110882145], [110883018, 110883141], [110884328, 110884454], [110885556, 110885693], [110890126, 110890275], [110895858, 110895963], [110897167, 110897391], [110901127, 110901295], [110901981, 110902131], [110904577, 110904697], [110908899, 110909016], [110909739, 110909865], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110929307, 110929386], [110932357, 110934235]] [[110834491, 110834618], [110862101, 110862301], [110864409, 110864591], [110864997, 110865225], [110866228, 110866431], [110880467, 110880593], [110882022, 110882145], [110883018, 110883141], [110884328, 110884454], [110885556, 110885693], [110890126, 110890275], [110895858, 110895963], [110897167, 110897391], [110901127, 110901295], [110901981, 110902131], [110904577, 110904697], [110908899, 110909016], [110909739, 110909865], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110929307, 110929386], [110932357, 110932611]]
NM_001963 [[110834039, 110834618], [110862101, 110862301], [110864409, 110864591], [110864997, 110865225], [110866228, 110866431], [110880467, 110880593], [110882022, 110882145], [110883018, 110883141], [110884328, 110884454], [110885556, 110885693], [110890126, 110890275], [110895858, 110895963], [110897167, 110897391], [110901127, 110901295], [110901981, 110902131], [110904577, 110904697], [110908899, 110909016], [110909739, 110909865], [110914402, 110914525], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110929307, 110929386], [110932357, 110934235]] [[110834491, 110834618], [110862101, 110862301], [110864409, 110864591], [110864997, 110865225], [110866228, 110866431], [110880467, 110880593], [110882022, 110882145], [110883018, 110883141], [110884328, 110884454], [110885556, 110885693], [110890126, 110890275], [110895858, 110895963], [110897167, 110897391], [110901127, 110901295], [110901981, 110902131], [110904577, 110904697], [110908899, 110909016], [110909739, 110909865], [110914402, 110914525], [110915888, 110916036], [110920834, 110921002], [110925660, 110925778], [110929307, 110929386], [110932357, 110932611]]
Promoter
Chrom Start End Description
chr4 110834033 110834047 CAGE_peak_1_at_EGF_5end
chr4 110834062 110834080 CAGE_peak_2_at_EGF_5end
chr4 110901855 110901868 CAGE_peak_3_at_EGF_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I110058 110058878 110061452 0.91 [{'connected_gene': 'ELOVL6', 'score': 11.24}, {'connected_gene': 'RNU6-35P', 'score': 11.14}, {'connected_gene': 'EGF', 'score': 11.05}, {'connected_gene': 'LRIT3', 'score': 4.27}, {'connected_gene': 'GC04M110046', 'score': 0.39}, {'connected_gene': 'RN7SL275P', 'score': 0.22}]
chr4 GH04I109848 109848058 109848117 0.61 [{'connected_gene': 'LRIT3', 'score': 550.77}, {'connected_gene': 'EGF', 'score': 9.58}, {'connected_gene': 'RRH', 'score': 0.34}]
chr4 GH04I109920 109920658 109922244 0.54 [{'connected_gene': 'LRIT3', 'score': 10.41}, {'connected_gene': 'EGF', 'score': 8.16}, {'connected_gene': 'GC04P109993', 'score': 0.19}]
chr4 GH04I109929 109929908 109931699 0.38 [{'connected_gene': 'LRIT3', 'score': 10.54}, {'connected_gene': 'EGF', 'score': 7.54}, {'connected_gene': 'GC04P109993', 'score': 0.21}]
chr4 GH04I110532 110532857 110535072 1.04 [{'connected_gene': 'ENPEP', 'score': 12.97}, {'connected_gene': 'RNU6-35P', 'score': 10.49}, {'connected_gene': 'EGF', 'score': 10.49}, {'connected_gene': 'ENSG00000250511', 'score': 0.39}, {'connected_gene': 'PANCR', 'score': 0.19}]
chr4 GH04I110509 110509595 110511097 0.52 [{'connected_gene': 'ENPEP', 'score': 31.01}, {'connected_gene': 'RNU6-35P', 'score': 12.1}, {'connected_gene': 'EGF', 'score': 12.1}, {'connected_gene': 'ENSG00000250511', 'score': 0.44}, {'connected_gene': 'GC04P110502', 'score': 0.44}]
chr4 GH04I109909 109909573 109910974 0.31 [{'connected_gene': 'EGF', 'score': 0.77}, {'connected_gene': 'KRT19P3', 'score': 0.29}]
chr4 GH04I109980 109980018 109981030 0.31 [{'connected_gene': 'EGF', 'score': 15.9}, {'connected_gene': 'ENSG00000250511', 'score': 10.89}, {'connected_gene': 'LRIT3', 'score': 10.18}, {'connected_gene': 'GAR1', 'score': 10.1}, {'connected_gene': 'GC04P109993', 'score': 0.39}]
chr4 GH04I109947 109947304 109948208 0.38 [{'connected_gene': 'EGF', 'score': 16.39}, {'connected_gene': 'LRIT3', 'score': 10.42}, {'connected_gene': 'GC04P109993', 'score': 0.26}]
chr4 GH04I109912 109912245 109916833 1.92 [{'connected_gene': 'EGF', 'score': 558.79}, {'connected_gene': 'LRIT3', 'score': 10.42}, {'connected_gene': 'GC04P109993', 'score': 0.18}]
chr4 GH04I109974 109973201 109973400 0.43 [{'connected_gene': 'EGF', 'score': 19.35}, {'connected_gene': 'ENSG00000250511', 'score': 10.4}, {'connected_gene': 'GC04P109993', 'score': 0.37}]
chr4 GH04I109967 109967550 109968602 0.57 [{'connected_gene': 'EGF', 'score': 19.22}, {'connected_gene': 'ENSG00000250511', 'score': 10.4}, {'connected_gene': 'GC04P109993', 'score': 0.34}]
chr4 GH04I109969 109969652 109970550 0.77 [{'connected_gene': 'EGF', 'score': 17.09}, {'connected_gene': 'ENSG00000250511', 'score': 10.4}, {'connected_gene': 'GC04P109993', 'score': 0.34}]
chr4 GH04I109973 109973665 109973685 0.66 [{'connected_gene': 'EGF', 'score': 11.32}, {'connected_gene': 'ENSG00000250511', 'score': 10.4}, {'connected_gene': 'GC04P109993', 'score': 0.37}]
chr4 GH04I110032 110032517 110033065 0.49 [{'connected_gene': 'RNU6-35P', 'score': 12.4}, {'connected_gene': 'EGF', 'score': 12.26}, {'connected_gene': 'ELOVL6', 'score': 11.39}, {'connected_gene': 'GC04M110046', 'score': 0.39}, {'connected_gene': 'GC04M110017', 'score': 0.39}]
chr4 GH04I110033 110033601 110034400 0.68 [{'connected_gene': 'RNU6-35P', 'score': 12.4}, {'connected_gene': 'EGF', 'score': 12.26}, {'connected_gene': 'ELOVL6', 'score': 11.39}, {'connected_gene': 'ENSG00000250511', 'score': 10.75}, {'connected_gene': 'GC04M110046', 'score': 0.39}, {'connected_gene': 'GC04M110017', 'score': 0.39}]
chr4 GH04I110005 110005585 110005734 0.72 [{'connected_gene': 'RNU6-35P', 'score': 0.39}, {'connected_gene': 'GC04M110017', 'score': 0.37}, {'connected_gene': 'EGF', 'score': 0.16}]
chr4 GH04I110000 110000248 110000295 0.24 [{'connected_gene': 'RNU6-35P', 'score': 0.44}, {'connected_gene': 'GC04M110017', 'score': 0.34}, {'connected_gene': 'EGF', 'score': 0.17}]
chr4 GH04I109988 109988535 109991097 0.84 [{'connected_gene': 'ENSG00000250511', 'score': 11.41}, {'connected_gene': 'ELOVL6', 'score': 9.95}, {'connected_gene': 'EGF', 'score': 5.88}, {'connected_gene': 'GC04P109993', 'score': 0.77}]
chr4 GH04I110503 110503363 110504156 0.2 [{'connected_gene': 'GC04P110502', 'score': 550.77}, {'connected_gene': 'ENPEP', 'score': 40.04}, {'connected_gene': 'RNU6-35P', 'score': 11.7}, {'connected_gene': 'EGF', 'score': 11.69}, {'connected_gene': 'ENSG00000250511', 'score': 0.37}]