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
ENST00000369209 [[118430702, 118434929], [118435909, 118436013], [118439013, 118439272], [118440662, 118440767], [118441301, 118441388], [118443301, 118443473], [118451861, 118451978], [118458145, 118458250], [118460453, 118460640], [118464661, 118464789], [118466710, 118466796], [118501940, 118502085]] [[118434291, 118434929], [118435909, 118436013], [118439013, 118439272], [118440662, 118440767], [118441301, 118441388], [118443301, 118443473], [118451861, 118451978], [118458145, 118458250], [118460453, 118460640], [118464661, 118464789], [118466710, 118466796], [118501940, 118501980]]
ENST00000480802 [[118442966, 118443473], [118451861, 118451978]] [[118443230, 118443473], [118451861, 118451978]]
ENST00000481291 [[118457654, 118458250], [118460453, 118460596]] None
ENST00000468935 [[118460464, 118460640], [118464661, 118464789], [118466710, 118466796], [118467551, 118467757]] [[118460464, 118460640], [118464661, 118464789], [118466710, 118466796], [118467551, 118467570]]
NM_025015 [[118430702, 118434929], [118435909, 118436013], [118439013, 118439272], [118440662, 118440767], [118441301, 118441388], [118443301, 118443473], [118451861, 118451978], [118458145, 118458250], [118460453, 118460640], [118464661, 118464789], [118466710, 118466796], [118501940, 118502085]] [[118434291, 118434929], [118435909, 118436013], [118439013, 118439272], [118440662, 118440767], [118441301, 118441388], [118443301, 118443473], [118451861, 118451978], [118458145, 118458250], [118460453, 118460640], [118464661, 118464789], [118466710, 118466796], [118501940, 118501980]]
NM_001330164 [[118430702, 118434929], [118435909, 118436013], [118439013, 118439272], [118440662, 118440767], [118441301, 118441388], [118443301, 118443473], [118451861, 118451978], [118458145, 118458250], [118460453, 118460640], [118464661, 118464789], [118466710, 118466796], [118594445, 118594533], [118609076, 118609288]] [[118434291, 118434929], [118435909, 118436013], [118439013, 118439272], [118440662, 118440767], [118441301, 118441388], [118443301, 118443473], [118451861, 118451978], [118458145, 118458250], [118460453, 118460640], [118464661, 118464789], [118466710, 118466796], [118594445, 118594533], [118609076, 118609079]]
Promoter
Chrom Start End Description
chr10 118502070 118502084 CAGE_peak_1_at_HSPA12A_5end
chr10 118502095 118502117 CAGE_peak_2_at_HSPA12A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I116996 116996781 116997901 0.69 [{'connected_gene': 'SHTN1', 'score': 49.97}, {'connected_gene': 'ENSG00000225302', 'score': 10.85}, {'connected_gene': 'ENO4', 'score': 10.85}, {'connected_gene': 'ENSG00000235742', 'score': 0.31}, {'connected_gene': 'HSPA12A', 'score': 0.11}]
chr10 GH10I116891 116891390 116891539 0.72 [{'connected_gene': 'SHTN1', 'score': 48.39}, {'connected_gene': 'ENSG00000225302', 'score': 11.25}, {'connected_gene': 'ENO4', 'score': 11.25}, {'connected_gene': 'HSPA12A', 'score': 0.26}, {'connected_gene': 'ENSG00000235742', 'score': 0.12}]
chr10 GH10I116999 116999907 117001689 0.38 [{'connected_gene': 'SHTN1', 'score': 30.19}, {'connected_gene': 'ENSG00000225302', 'score': 10.84}, {'connected_gene': 'ENO4', 'score': 10.84}, {'connected_gene': 'ENSG00000235742', 'score': 0.34}, {'connected_gene': 'HSPA12A', 'score': 0.11}]
chr10 GH10I116887 116887915 116889632 0.97 [{'connected_gene': 'SHTN1', 'score': 37.77}, {'connected_gene': 'ENSG00000225302', 'score': 11.3}, {'connected_gene': 'ENO4', 'score': 11.3}, {'connected_gene': 'HSPA12A', 'score': 0.28}, {'connected_gene': 'ENSG00000235742', 'score': 0.12}]
chr10 GH10I116984 116984325 116984469 0.69 [{'connected_gene': 'SHTN1', 'score': 4.35}, {'connected_gene': 'KCNK18', 'score': 2.51}, {'connected_gene': 'HSPA12A', 'score': 1.76}, {'connected_gene': 'PNLIP', 'score': 1.72}, {'connected_gene': 'PNLIPRP2', 'score': 1.64}, {'connected_gene': 'PNLIPRP1', 'score': 1.62}, {'connected_gene': 'VAX1', 'score': 1.37}, {'connected_gene': 'ENSG00000235742', 'score': 0.28}]
chr10 GH10I116942 116942723 116944739 0.2 [{'connected_gene': 'SHTN1', 'score': 27.25}, {'connected_gene': 'ENSG00000235742', 'score': 0.18}, {'connected_gene': 'HSPA12A', 'score': 0.16}, {'connected_gene': 'ENO4', 'score': 0.16}]
chr10 GH10I116974 116974016 116975625 1.24 [{'connected_gene': 'SHTN1', 'score': 30.6}, {'connected_gene': 'ENSG00000235742', 'score': 0.25}, {'connected_gene': 'HSPA12A', 'score': 0.13}]
chr10 GH10I116989 116989556 116990821 0.63 [{'connected_gene': 'SHTN1', 'score': 29.36}, {'connected_gene': 'ENSG00000235742', 'score': 0.29}, {'connected_gene': 'HSPA12A', 'score': 0.12}]
chr10 GH10I116965 116965985 116970819 0.54 [{'connected_gene': 'SHTN1', 'score': 30.5}, {'connected_gene': 'ENSG00000235742', 'score': 0.22}, {'connected_gene': 'HSPA12A', 'score': 0.13}]
chr10 GH10I116986 116986866 116987707 0.38 [{'connected_gene': 'SHTN1', 'score': 6.22}, {'connected_gene': 'ENSG00000235742', 'score': 0.28}, {'connected_gene': 'HSPA12A', 'score': 0.12}]
chr10 GH10I116978 116978606 116980055 0.2 [{'connected_gene': 'SHTN1', 'score': 35.41}, {'connected_gene': 'ENSG00000235742', 'score': 0.26}, {'connected_gene': 'HSPA12A', 'score': 0.13}]
chr10 GH10I116950 116950266 116953394 0.31 [{'connected_gene': 'SHTN1', 'score': 54.22}, {'connected_gene': 'ENSG00000235742', 'score': 0.19}, {'connected_gene': 'HSPA12A', 'score': 0.15}]
chr10 GH10I116954 116954066 116956421 0.2 [{'connected_gene': 'SHTN1', 'score': 52.22}, {'connected_gene': 'HSPA12A', 'score': 4.97}, {'connected_gene': 'ENSG00000235742', 'score': 0.2}]
chr10 GH10I116977 116977090 116977755 0.31 [{'connected_gene': 'SHTN1', 'score': 49.95}, {'connected_gene': 'ENSG00000235742', 'score': 0.25}, {'connected_gene': 'HSPA12A', 'score': 0.13}]
chr10 GH10I117003 117003963 117007759 2.43 [{'connected_gene': 'SHTN1', 'score': 597.62}, {'connected_gene': 'ENSG00000235742', 'score': 0.37}, {'connected_gene': 'HSPA12A', 'score': 0.1}]
chr10 GH10I116946 116946737 116948933 1.25 [{'connected_gene': 'SHTN1', 'score': 6.76}, {'connected_gene': 'ENSG00000235742', 'score': 0.18}, {'connected_gene': 'HSPA12A', 'score': 0.15}]
chr10 GH10I116991 116991160 116992907 0.43 [{'connected_gene': 'SHTN1', 'score': 50.02}, {'connected_gene': 'ENSG00000235742', 'score': 0.29}, {'connected_gene': 'HSPA12A', 'score': 0.11}]
chr10 GH10I116269 116269742 116275424 2.16 [{'connected_gene': 'GFRA1', 'score': 555.32}, {'connected_gene': 'HSPA12A', 'score': 5.52}, {'connected_gene': 'GC10M115985', 'score': 0.1}]
chr10 GH10I116631 116631930 116632079 0.2 [{'connected_gene': 'HSPA12A', 'score': 10.52}, {'connected_gene': 'PNLIPRP2', 'score': 0.39}, {'connected_gene': 'LOC105378499', 'score': 0.28}]
chr10 GH10I116632 116632710 116632859 0.2 [{'connected_gene': 'HSPA12A', 'score': 10.52}, {'connected_gene': 'PNLIPRP2', 'score': 0.39}, {'connected_gene': 'LOC105378499', 'score': 0.28}]
chr10 GH10I116690 116690210 116692621 0.57 [{'connected_gene': 'HSPA12A', 'score': 17.59}, {'connected_gene': 'C10orf82', 'score': 13.72}, {'connected_gene': 'RPL5P27', 'score': 0.22}]
chr10 GH10I116694 116694120 116695186 0.79 [{'connected_gene': 'HSPA12A', 'score': 18.18}, {'connected_gene': 'C10orf82', 'score': 0.34}, {'connected_gene': 'RPL5P27', 'score': 0.22}]
chr10 GH10I116687 116687621 116689413 0.51 [{'connected_gene': 'HSPA12A', 'score': 17.49}, {'connected_gene': 'C10orf82', 'score': 13.75}, {'connected_gene': 'RPL5P27', 'score': 0.21}]
chr10 GH10I116682 116682430 116682619 0.79 [{'connected_gene': 'HSPA12A', 'score': 10.66}, {'connected_gene': 'C10orf82', 'score': 0.39}, {'connected_gene': 'RPL5P27', 'score': 0.2}]
chr10 GH10I116721 116721298 116723565 0.84 [{'connected_gene': 'HSPA12A', 'score': 17.89}, {'connected_gene': 'C10orf82', 'score': 5.87}, {'connected_gene': 'RPL5P27', 'score': 0.31}]
chr10 GH10I116708 116707310 116707459 0.2 [{'connected_gene': 'HSPA12A', 'score': 12.08}, {'connected_gene': 'C10orf82', 'score': 0.28}, {'connected_gene': 'RPL5P27', 'score': 0.26}]
chr10 GH10I116767 116767010 116768136 0.43 [{'connected_gene': 'HSPA12A', 'score': 11.72}, {'connected_gene': 'LOC105378499', 'score': 10.44}, {'connected_gene': 'C10orf82', 'score': 10.44}, {'connected_gene': 'LOC105378498', 'score': 0.44}, {'connected_gene': 'RPL5P27', 'score': 0.37}]
chr10 GH10I116769 116769930 116772505 1 [{'connected_gene': 'HSPA12A', 'score': 19.55}, {'connected_gene': 'LOC105378499', 'score': 10.43}, {'connected_gene': 'C10orf82', 'score': 10.43}, {'connected_gene': 'LOC105378498', 'score': 0.77}, {'connected_gene': 'RPL5P27', 'score': 0.34}]
chr10 GH10I116711 116711945 116712124 0.2 [{'connected_gene': 'HSPA12A', 'score': 12.51}, {'connected_gene': 'LOC105378499', 'score': 10.81}, {'connected_gene': 'C10orf82', 'score': 10.81}, {'connected_gene': 'RPL5P27', 'score': 0.28}]
chr10 GH10I116797 116797050 116797199 0.6 [{'connected_gene': 'HSPA12A', 'score': 11.12}, {'connected_gene': 'LOC105378498', 'score': 0.34}, {'connected_gene': 'PIR51462', 'score': 0.29}]
chr10 GH10I115936 115936594 115938152 0.49 [{'connected_gene': 'HSPA12A', 'score': 4.65}, {'connected_gene': 'LOC105378497', 'score': 0.37}, {'connected_gene': 'GC10M115974', 'score': 0.28}, {'connected_gene': 'ATRNL1', 'score': 0.02}]
chr10 GH10I116741 116741156 116743892 1.84 [{'connected_gene': 'HSPA12A', 'score': 560.07}, {'connected_gene': 'RPL5P27', 'score': 0.44}, {'connected_gene': 'C10orf82', 'score': 0.19}]
chr10 GH10I116733 116732650 116732799 0.2 [{'connected_gene': 'HSPA12A', 'score': 4.78}, {'connected_gene': 'RPL5P27', 'score': 0.37}, {'connected_gene': 'C10orf82', 'score': 0.21}]
chr10 GH10I116732 116732800 116734433 0.58 [{'connected_gene': 'HSPA12A', 'score': 6.6}, {'connected_gene': 'RPL5P27', 'score': 0.37}, {'connected_gene': 'C10orf82', 'score': 0.21}]
chr10 GH10I116719 116719817 116721030 0.43 [{'connected_gene': 'HSPA12A', 'score': 10.31}, {'connected_gene': 'RPL5P27', 'score': 0.31}, {'connected_gene': 'C10orf82', 'score': 0.23}]
chr10 GH10I116707 116707957 116709116 0.31 [{'connected_gene': 'C10orf82', 'score': 22.73}, {'connected_gene': 'HSPA12A', 'score': 21.14}, {'connected_gene': 'LOC105378499', 'score': 10.82}, {'connected_gene': 'RPL5P27', 'score': 0.26}]
chr10 GH10I116834 116834416 116836952 0.64 [{'connected_gene': 'LOC105378499', 'score': 9.44}, {'connected_gene': 'C10orf82', 'score': 9.44}, {'connected_gene': 'PIR57757', 'score': 0.44}, {'connected_gene': 'ENSG00000225302', 'score': 0.39}, {'connected_gene': 'ENO4', 'score': 0.39}, {'connected_gene': 'HSPA12A', 'score': 0.37}]
chr10 GH10I116835 116834050 116834339 0.43 [{'connected_gene': 'LOC105378499', 'score': 9.44}, {'connected_gene': 'C10orf82', 'score': 9.44}, {'connected_gene': 'PIR57757', 'score': 0.77}, {'connected_gene': 'ENSG00000225302', 'score': 0.37}, {'connected_gene': 'HSPA12A', 'score': 0.37}, {'connected_gene': 'ENO4', 'score': 0.37}]
chr10 GH10I116671 116671390 116671539 0.52 [{'connected_gene': 'LOC105378499', 'score': 550.77}, {'connected_gene': 'C10orf82', 'score': 550.77}, {'connected_gene': 'RPL5P27', 'score': 0.18}, {'connected_gene': 'HSPA12A', 'score': 0.1}]
chr10 GH10I116753 116753070 116753219 0.2 [{'connected_gene': 'LOC105378499', 'score': 10.53}, {'connected_gene': 'C10orf82', 'score': 10.53}, {'connected_gene': 'RPL5P27', 'score': 0.77}, {'connected_gene': 'LOC105378498', 'score': 0.34}, {'connected_gene': 'HSPA12A', 'score': 0.15}]
chr10 GH10I116787 116787801 116788324 1 [{'connected_gene': 'LOC105378498', 'score': 0.39}, {'connected_gene': 'PIR51462', 'score': 0.28}, {'connected_gene': 'HSPA12A', 'score': 0.21}]
chr10 GH10I116724 116724090 116724227 0.31 [{'connected_gene': 'RPL5P27', 'score': 0.31}, {'connected_gene': 'C10orf82', 'score': 0.23}, {'connected_gene': 'HSPA12A', 'score': 0.13}]
chr10 GH10I116995 116995745 116995899 0.42 [{'connected_gene': 'ENSG00000235742', 'score': 0.31}, {'connected_gene': 'SHTN1', 'score': 0.12}, {'connected_gene': 'HSPA12A', 'score': 0.11}]
chr10 GH10I117002 117002440 117003069 0.49 [{'connected_gene': 'ENSG00000235742', 'score': 0.34}, {'connected_gene': 'SHTN1', 'score': 0.13}, {'connected_gene': 'HSPA12A', 'score': 0.1}]
chr10 GH10I117004 117003450 117003619 1.01 [{'connected_gene': 'ENSG00000235742', 'score': 0.34}, {'connected_gene': 'SHTN1', 'score': 0.13}, {'connected_gene': 'HSPA12A', 'score': 0.1}]
chr10 GH10I116883 116883615 116883786 0.26 [{'connected_gene': 'ENSG00000225302', 'score': 11.33}, {'connected_gene': 'ENO4', 'score': 11.33}, {'connected_gene': 'SHTN1', 'score': 2.45}, {'connected_gene': 'HSPA12A', 'score': 0.29}, {'connected_gene': 'ENSG00000235742', 'score': 0.11}]
chr10 GH10I116964 116962076 116962375 0.78 [{'connected_gene': 'ENSG00000225302', 'score': 10.29}, {'connected_gene': 'ENO4', 'score': 10.29}, {'connected_gene': 'ENSG00000235742', 'score': 0.21}, {'connected_gene': 'HSPA12A', 'score': 0.14}, {'connected_gene': 'SHTN1', 'score': 0.1}]
chr10 GH10I116963 116961333 116961632 0.97 [{'connected_gene': 'ENSG00000225302', 'score': 10.29}, {'connected_gene': 'ENO4', 'score': 10.29}, {'connected_gene': 'ENSG00000235742', 'score': 0.21}, {'connected_gene': 'HSPA12A', 'score': 0.14}, {'connected_gene': 'SHTN1', 'score': 0.1}]
chr10 GH10I116961 116961653 116962050 0.92 [{'connected_gene': 'ENSG00000225302', 'score': 10.29}, {'connected_gene': 'ENO4', 'score': 10.29}, {'connected_gene': 'ENSG00000235742', 'score': 0.21}, {'connected_gene': 'HSPA12A', 'score': 0.14}, {'connected_gene': 'SHTN1', 'score': 0.1}]
chr10 GH10I116962 116962517 116963008 0.2 [{'connected_gene': 'ENSG00000225302', 'score': 10.29}, {'connected_gene': 'ENO4', 'score': 10.29}, {'connected_gene': 'ENSG00000235742', 'score': 0.21}, {'connected_gene': 'HSPA12A', 'score': 0.14}, {'connected_gene': 'SHTN1', 'score': 0.1}]
chr10 GH10I116873 116873250 116873399 0.2 [{'connected_gene': 'ENSG00000225302', 'score': 11.92}, {'connected_gene': 'ENO4', 'score': 11.92}, {'connected_gene': 'HSPA12A', 'score': 0.34}, {'connected_gene': 'ENSG00000235742', 'score': 0.1}]
chr10 GH10I116944 116944914 116945852 0.31 [{'connected_gene': 'ENSG00000235742', 'score': 0.18}, {'connected_gene': 'HSPA12A', 'score': 0.16}, {'connected_gene': 'SHTN1', 'score': 0.09}]
chr10 GH10I116982 116982984 116983528 0.43 [{'connected_gene': 'ENSG00000235742', 'score': 0.26}, {'connected_gene': 'HSPA12A', 'score': 0.12}, {'connected_gene': 'SHTN1', 'score': 0.11}]
chr10 GH10I116983 116982190 116982707 0.43 [{'connected_gene': 'ENSG00000235742', 'score': 0.26}, {'connected_gene': 'HSPA12A', 'score': 0.12}, {'connected_gene': 'SHTN1', 'score': 0.11}]
chr10 GH10I116959 116959533 116960483 0.31 [{'connected_gene': 'ENSG00000235742', 'score': 0.21}, {'connected_gene': 'HSPA12A', 'score': 0.14}, {'connected_gene': 'SHTN1', 'score': 0.1}]
chr10 GH10I116847 116847584 116850575 1.9 [{'connected_gene': 'ENSG00000225302', 'score': 550.77}, {'connected_gene': 'HSPA12A', 'score': 550.77}, {'connected_gene': 'ENO4', 'score': 550.77}, {'connected_gene': 'SHTN1', 'score': 17.96}, {'connected_gene': 'PIR57757', 'score': 0.37}]
chr10 GH10I116809 116809710 116809779 0.43 [{'connected_gene': 'PIR51462', 'score': 0.37}, {'connected_gene': 'LOC105378498', 'score': 0.28}, {'connected_gene': 'HSPA12A', 'score': 0.26}]

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