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
ENST00000368365 [[126068809, 126068872], [126072946, 126073025], [126073152, 126073236], [126075610, 126075692], [126080262, 126082415]] [[126073001, 126073025], [126073152, 126073236], [126075610, 126075692], [126080262, 126080948]]
ENST00000368364 [[126070725, 126071005], [126072946, 126073025], [126073152, 126073236], [126075610, 126075692], [126080262, 126082415]] [[126070922, 126071005], [126072946, 126073025], [126073152, 126073236], [126075610, 126075692], [126080262, 126080948]]
NM_012259 [[126070731, 126071005], [126072946, 126073025], [126073152, 126073236], [126075610, 126075692], [126080262, 126082415]] [[126070922, 126071005], [126072946, 126073025], [126073152, 126073236], [126075610, 126075692], [126080262, 126080948]]
Promoter
Chrom Start End Description
chr6 126070748 126070768 CAGE_peak_2_at_HEY2_5end
chr6 126070769 126070801 CAGE_peak_1_at_HEY2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I125759 125759215 125759344 0.89 [{'connected_gene': 'HDDC2', 'score': 11.87}, {'connected_gene': 'HINT3', 'score': 10.07}, {'connected_gene': 'LOC105377986', 'score': 0.39}, {'connected_gene': 'HEY2', 'score': 0.39}, {'connected_gene': 'TRE-CTC1-7', 'score': 0.34}]
chr6 GH06I125587 125587674 125588993 0.57 [{'connected_gene': 'HEY2', 'score': 5.31}, {'connected_gene': 'PIR39632', 'score': 0.77}, {'connected_gene': 'LINC02523', 'score': 0.17}, {'connected_gene': 'LOC105377986', 'score': 0.1}]
chr6 GH06I125769 125769027 125769608 0.6 [{'connected_gene': 'HEY2', 'score': 23.74}, {'connected_gene': 'RNF217', 'score': 11.6}, {'connected_gene': 'TRE-CTC1-7', 'score': 0.39}, {'connected_gene': 'LOC105377986', 'score': 0.34}]
chr6 GH06I125732 125732665 125735317 0.2 [{'connected_gene': 'HEY2', 'score': 0.39}, {'connected_gene': 'LOC105377986', 'score': 0.37}, {'connected_gene': 'LINC02523', 'score': 0.22}]
chr6 GH06I125743 125743346 125744770 0.49 [{'connected_gene': 'HEY2', 'score': 21.85}, {'connected_gene': 'LOC105377986', 'score': 6.66}, {'connected_gene': 'LINC02523', 'score': 0.2}]
chr6 GH06I125756 125756470 125757498 0.31 [{'connected_gene': 'HEY2', 'score': 23.91}, {'connected_gene': 'LOC105377986', 'score': 17.25}, {'connected_gene': 'HDDC2', 'score': 11.87}, {'connected_gene': 'HINT3', 'score': 10.07}, {'connected_gene': 'TRE-CTC1-7', 'score': 0.34}]
chr6 GH06I125752 125752951 125754220 0.63 [{'connected_gene': 'HEY2', 'score': 23.96}, {'connected_gene': 'LOC105377986', 'score': 17.9}, {'connected_gene': 'HDDC2', 'score': 11.64}, {'connected_gene': 'HINT3', 'score': 10.17}, {'connected_gene': 'TRE-CTC1-7', 'score': 0.31}]
chr6 GH06I125377 125377572 125378190 0.2 [{'connected_gene': 'HEY2', 'score': 9.91}, {'connected_gene': 'LOC105377986', 'score': 9.91}, {'connected_gene': 'LOC102723341', 'score': 0.2}, {'connected_gene': 'HDDC2', 'score': 0.18}]
chr6 GH06I125745 125745371 125750682 2.73 [{'connected_gene': 'HEY2', 'score': 574.51}, {'connected_gene': 'LOC105377986', 'score': 567.96}]
chr6 GH06I125795 125795274 125796435 0.46 [{'connected_gene': 'HEY2', 'score': 19.62}, {'connected_gene': 'NCOA7-AS1', 'score': 13.36}, {'connected_gene': 'HINT3', 'score': 11.13}, {'connected_gene': 'NCOA7', 'score': 0.39}]
chr6 GH06I125773 125773219 125774291 0.49 [{'connected_gene': 'HEY2', 'score': 23.37}, {'connected_gene': 'TRE-CTC1-7', 'score': 0.44}, {'connected_gene': 'LOC105377986', 'score': 0.34}]
chr6 GH06I125940 125940038 125949794 1.76 [{'connected_gene': 'RNF217', 'score': 14.33}, {'connected_gene': 'CENPW', 'score': 14.3}, {'connected_gene': 'NCOA7-AS1', 'score': 10.05}, {'connected_gene': 'LOC105377986', 'score': 9.71}, {'connected_gene': 'HEY2', 'score': 9.71}, {'connected_gene': 'NCOA7', 'score': 4.94}, {'connected_gene': 'TRMT11', 'score': 4.16}, {'connected_gene': 'PIR42096', 'score': 0.44}, {'connected_gene': 'HINT3', 'score': 0.39}]
chr6 GH06I125597 125597003 125599530 0.98 [{'connected_gene': 'RNF217', 'score': 11.6}, {'connected_gene': 'HEY2', 'score': 6.02}, {'connected_gene': 'PIR39632', 'score': 0.39}, {'connected_gene': 'LINC02523', 'score': 0.18}, {'connected_gene': 'LOC105377986', 'score': 0.1}]
chr6 GH06I125931 125931830 125932723 0.84 [{'connected_gene': 'HINT3', 'score': 13.4}, {'connected_gene': 'HEY2', 'score': 10.27}, {'connected_gene': 'NCOA7-AS1', 'score': 9.89}, {'connected_gene': 'PIR42096', 'score': 0.44}, {'connected_gene': 'PIR57980', 'score': 0.34}, {'connected_gene': 'NCOA7', 'score': 0.1}]
chr6 GH06I125828 125828493 125835999 1.18 [{'connected_gene': 'HINT3', 'score': 11.23}, {'connected_gene': 'HEY2', 'score': 10.5}, {'connected_gene': 'LOC102723341', 'score': 5.38}, {'connected_gene': 'NCOA7-AS1', 'score': 0.39}, {'connected_gene': 'RN7SKP56', 'score': 0.26}, {'connected_gene': 'NCOA7', 'score': 0.23}]
chr6 GH06I125922 125922495 125925388 0.94 [{'connected_gene': 'HINT3', 'score': 13.21}, {'connected_gene': 'NCOA7-AS1', 'score': 10.22}, {'connected_gene': 'HEY2', 'score': 7.13}, {'connected_gene': 'NCOA7', 'score': 4.51}, {'connected_gene': 'PIR57980', 'score': 0.39}, {'connected_gene': 'PIR42096', 'score': 0.37}]
chr6 GH06I125867 125867161 125870143 1.2 [{'connected_gene': 'HINT3', 'score': 11.87}, {'connected_gene': 'NCOA7-AS1', 'score': 11.12}, {'connected_gene': 'HEY2', 'score': 10.51}, {'connected_gene': 'RN7SKP56', 'score': 0.44}, {'connected_gene': 'NCOA7', 'score': 0.17}]
chr6 GH06I125884 125884028 125887923 0.49 [{'connected_gene': 'HINT3', 'score': 11.66}, {'connected_gene': 'NCOA7-AS1', 'score': 11.26}, {'connected_gene': 'HEY2', 'score': 10.73}, {'connected_gene': 'LOC105377986', 'score': 4.2}, {'connected_gene': 'RN7SKP56', 'score': 0.39}, {'connected_gene': 'PIR57980', 'score': 0.31}, {'connected_gene': 'NCOA7', 'score': 0.15}]
chr6 GH06I125788 125788754 125795040 2.5 [{'connected_gene': 'NCOA7', 'score': 553.8}, {'connected_gene': 'HEY2', 'score': 22.73}, {'connected_gene': 'RNF217', 'score': 14.33}, {'connected_gene': 'HINT3', 'score': 13.76}, {'connected_gene': 'NCOA7-AS1', 'score': 13.33}, {'connected_gene': 'LOC105377986', 'score': 5.08}, {'connected_gene': 'TRMT11', 'score': 1.47}]
chr6 GH06I125779 125779795 125783200 2.51 [{'connected_gene': 'NCOA7', 'score': 550.77}, {'connected_gene': 'TRE-CTC1-7', 'score': 550.77}, {'connected_gene': 'HEY2', 'score': 21.69}, {'connected_gene': 'CENPW', 'score': 20.72}, {'connected_gene': 'TRMT11', 'score': 12.61}, {'connected_gene': 'RNF217-AS1', 'score': 12.49}, {'connected_gene': 'RNF217', 'score': 9.77}, {'connected_gene': 'NCOA7-AS1', 'score': 0.28}]
chr6 GH06I125707 125707631 125708644 0.2 [{'connected_gene': 'LOC105377986', 'score': 14.19}, {'connected_gene': 'LINC02523', 'score': 0.29}, {'connected_gene': 'HEY2', 'score': 0.28}]
chr6 GH06I125754 125754409 125756324 0.2 [{'connected_gene': 'LOC105377986', 'score': 17.4}, {'connected_gene': 'HDDC2', 'score': 11.87}, {'connected_gene': 'HINT3', 'score': 10.17}, {'connected_gene': 'HEY2', 'score': 0.44}, {'connected_gene': 'TRE-CTC1-7', 'score': 0.34}]
chr6 GH06I125751 125751241 125752049 0.52 [{'connected_gene': 'LOC105377986', 'score': 17.93}, {'connected_gene': 'HDDC2', 'score': 11.15}, {'connected_gene': 'HINT3', 'score': 9.75}, {'connected_gene': 'HEY2', 'score': 0.77}, {'connected_gene': 'TRE-CTC1-7', 'score': 0.31}]
chr6 GH06I125741 125741416 125743277 0.75 [{'connected_gene': 'LOC105377986', 'score': 0.44}, {'connected_gene': 'HEY2', 'score': 0.44}, {'connected_gene': 'LINC02523', 'score': 0.2}]
chr6 GH06I125700 125700466 125701915 0.31 [{'connected_gene': 'LOC105377986', 'score': 20.73}, {'connected_gene': 'HEY2', 'score': 10.55}, {'connected_gene': 'LINC02523', 'score': 0.31}]
chr6 GH06I125362 125362562 125364301 1.12 [{'connected_gene': 'LOC105377986', 'score': 10.24}, {'connected_gene': 'HEY2', 'score': 10.24}, {'connected_gene': 'HDDC2', 'score': 0.21}, {'connected_gene': 'LOC102723341', 'score': 0.18}]
chr6 GH06I125844 125844988 125845800 0.99 [{'connected_gene': 'NCOA7-AS1', 'score': 11.25}, {'connected_gene': 'HINT3', 'score': 10.72}, {'connected_gene': 'HEY2', 'score': 9.69}, {'connected_gene': 'RN7SKP56', 'score': 0.31}, {'connected_gene': 'NCOA7', 'score': 0.21}]
chr6 GH06I125853 125853172 125855059 0.54 [{'connected_gene': 'NCOA7-AS1', 'score': 11.53}, {'connected_gene': 'HINT3', 'score': 11.5}, {'connected_gene': 'HEY2', 'score': 9.53}, {'connected_gene': 'LOC102723341', 'score': 5.49}, {'connected_gene': 'HDDC2', 'score': 4.5}, {'connected_gene': 'RN7SKP56', 'score': 0.34}, {'connected_gene': 'NCOA7', 'score': 0.19}]
chr6 GH06I125583 125583410 125587438 1.34 [{'connected_gene': 'PIR39632', 'score': 550.77}, {'connected_gene': 'RNF217', 'score': 10.28}, {'connected_gene': 'LOC105377986', 'score': 5.48}, {'connected_gene': 'HEY2', 'score': 5.34}, {'connected_gene': 'LINC02523', 'score': 0.17}]