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
ENST00000472487 [[59120410, 59125827], [59126841, 59126899], [59127077, 59127183], [59131170, 59131303], [59132709, 59132898], [59133518, 59133593], [59134303, 59134354], [59134655, 59134710], [59137541, 59137630], [59139244, 59139322], [59141148, 59141252], [59142597, 59142728], [59147456, 59148217], [59150824, 59150923], [59154709, 59154788], [59155897, 59155921], [59156011, 59156089], [59158532, 59158603], [59160800, 59160879], [59165656, 59165764]] [[59125668, 59125827], [59126841, 59126899], [59127077, 59127183], [59131170, 59131303], [59132709, 59132898], [59133518, 59133593], [59134303, 59134354], [59134655, 59134710], [59137541, 59137630], [59139244, 59139322], [59141148, 59141252], [59142597, 59142728], [59147456, 59148217], [59150824, 59150923], [59154709, 59154788], [59155897, 59155921], [59156011, 59156089], [59158532, 59158603], [59160800, 59160879], [59165656, 59165724]]
ENST00000493821 [[59120411, 59125827], [59126841, 59126899], [59127077, 59127183], [59131170, 59131303], [59132709, 59132898], [59133518, 59133593], [59134303, 59134354], [59134655, 59134710], [59137541, 59137630], [59139244, 59139322], [59141148, 59141252], [59142597, 59142728], [59147456, 59148217], [59150824, 59150923], [59154709, 59154788], [59154965, 59155334]] None
ENST00000401044 [[59124824, 59125827], [59126841, 59126899], [59127077, 59127183], [59131170, 59131303], [59132709, 59132898], [59133518, 59133593], [59134101, 59134238], [59134655, 59134710], [59137541, 59137630], [59139244, 59139322], [59141148, 59141252], [59142597, 59142728], [59147456, 59148217], [59150824, 59150923], [59154709, 59154788], [59155897, 59155921], [59156011, 59156066]] None
ENST00000481973 [[59142443, 59142728], [59147456, 59147568]] None
ENST00000466774 [[59148080, 59148217], [59150824, 59150923], [59156011, 59156089], [59158532, 59158603], [59160800, 59160879], [59165656, 59165752]] None
ENST00000483003 [[59155859, 59155921], [59156011, 59156089], [59158532, 59158603], [59160800, 59160879], [59165656, 59165744]] None
ENST00000489282 [[59158077, 59158603], [59160800, 59160879], [59165656, 59165749]] None
NM_001085487 [[59120410, 59125827], [59126841, 59126899], [59127077, 59127183], [59131170, 59131303], [59132709, 59132898], [59133518, 59133593], [59134303, 59134354], [59134655, 59134710], [59137541, 59137630], [59139244, 59139322], [59141148, 59141252], [59142597, 59142728], [59147456, 59148217], [59150824, 59150923], [59154709, 59154788], [59155897, 59155921], [59156011, 59156089], [59158532, 59158603], [59160800, 59160879], [59165656, 59165747]] [[59125668, 59125827], [59126841, 59126899], [59127077, 59127183], [59131170, 59131303], [59132709, 59132898], [59133518, 59133593], [59134303, 59134354], [59134655, 59134710], [59137541, 59137630], [59139244, 59139322], [59141148, 59141252], [59142597, 59142728], [59147456, 59148217], [59150824, 59150923], [59154709, 59154788], [59155897, 59155921], [59156011, 59156089], [59158532, 59158603], [59160800, 59160879], [59165656, 59165724]]
Promoter
Chrom Start End Description
chr1 59165724 59165751 CAGE_peak_1_at_MYSM1_5end
chr1 59165763 59165780 CAGE_peak_2_at_MYSM1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I059169 59169150 59171458 0.2 [{'connected_gene': 'HSD52', 'score': 24.41}, {'connected_gene': 'MYSM1', 'score': 4.23}, {'connected_gene': 'GC01M059164', 'score': 0.77}, {'connected_gene': 'GC01P059086', 'score': 0.18}, {'connected_gene': 'LINC01358', 'score': 0.07}]
chr1 GH01I058652 58652600 58652878 0.87 [{'connected_gene': 'TACSTD2', 'score': 11.53}, {'connected_gene': 'DAB1', 'score': 11.5}, {'connected_gene': 'OMA1', 'score': 11.5}, {'connected_gene': 'MYSM1', 'score': 5.68}, {'connected_gene': 'GC01M058655', 'score': 0.44}, {'connected_gene': 'GC01P058635', 'score': 0.37}]
chr1 GH01I058539 58539044 58540226 0.49 [{'connected_gene': 'TACSTD2', 'score': 38.76}, {'connected_gene': 'OMA1', 'score': 11.57}, {'connected_gene': 'MYSM1', 'score': 9.54}, {'connected_gene': 'DAB1', 'score': 0.44}, {'connected_gene': 'GC01M058497', 'score': 0.31}]
chr1 GH01I058596 58596396 58597427 0.6 [{'connected_gene': 'TACSTD2', 'score': 8.03}, {'connected_gene': 'OMA1', 'score': 5.83}, {'connected_gene': 'MYSM1', 'score': 4.63}, {'connected_gene': 'GC01M058574', 'score': 0.44}, {'connected_gene': 'AK2P1', 'score': 0.29}]
chr1 GH01I058703 58703474 58705486 0.56 [{'connected_gene': 'JUN', 'score': 9.62}, {'connected_gene': 'LINC01135', 'score': 9.61}, {'connected_gene': 'MYSM1', 'score': 7.56}, {'connected_gene': 'LOC105378751', 'score': 0.39}]
chr1 GH01I059012 59012774 59016746 1.48 [{'connected_gene': 'MYSM1', 'score': 13.22}, {'connected_gene': 'HSD52', 'score': 4.66}, {'connected_gene': 'LINC01135', 'score': 4.28}, {'connected_gene': 'PHBP3', 'score': 0.37}, {'connected_gene': 'ENSG00000241042', 'score': 0.26}, {'connected_gene': 'LINC01358', 'score': 0.18}]
chr1 GH01I058766 58766904 58766939 0.42 [{'connected_gene': 'MYSM1', 'score': 10.26}, {'connected_gene': 'FGGY', 'score': 9.71}, {'connected_gene': 'JUN', 'score': 0.37}, {'connected_gene': 'LOC105378751', 'score': 0.23}]
chr1 GH01I059289 59289516 59294249 1.7 [{'connected_gene': 'MYSM1', 'score': 38.82}, {'connected_gene': 'FGGY', 'score': 14.04}, {'connected_gene': 'LOC105378756', 'score': 11.6}, {'connected_gene': 'GC01M059291', 'score': 0.77}]
chr1 GH01I058249 58249539 58251028 0.94 [{'connected_gene': 'MYSM1', 'score': 11.94}, {'connected_gene': 'ENSG00000272226', 'score': 9.8}, {'connected_gene': 'VKORC1P2', 'score': 0.34}, {'connected_gene': 'GC01P058304', 'score': 0.23}, {'connected_gene': 'DAB1', 'score': 0.06}]
chr1 GH01I058664 58664805 58665540 0.31 [{'connected_gene': 'MYSM1', 'score': 15.92}, {'connected_gene': 'TACSTD2', 'score': 10.85}, {'connected_gene': 'GC01M058655', 'score': 0.44}]
chr1 GH01I058698 58698726 58700783 2 [{'connected_gene': 'MYSM1', 'score': 558.1}, {'connected_gene': 'ENSG00000272226', 'score': 9.91}, {'connected_gene': 'DAB1', 'score': 9.71}, {'connected_gene': 'OMA1', 'score': 9.71}, {'connected_gene': 'GC01M058655', 'score': 0.26}]
chr1 GH01I059564 59564815 59566683 0.84 [{'connected_gene': 'MYSM1', 'score': 11.92}, {'connected_gene': 'GC01P059473', 'score': 0.16}, {'connected_gene': 'MIR4711', 'score': 0.1}, {'connected_gene': 'FGGY', 'score': 0.06}]
chr1 GH01I058670 58670001 58670647 0.2 [{'connected_gene': 'MYSM1', 'score': 11.22}, {'connected_gene': 'GC01M058655', 'score': 0.39}]
chr1 GH01I058710 58710601 58711200 0.54 [{'connected_gene': 'LOC105378751', 'score': 0.77}, {'connected_gene': 'MYSM1', 'score': 0.39}]
chr1 GH01I058779 58779149 58787173 2.33 [{'connected_gene': 'LINC01135', 'score': 565.96}, {'connected_gene': 'JUN', 'score': 550.77}, {'connected_gene': 'MYSM1', 'score': 33.07}, {'connected_gene': 'FGGY', 'score': 5.51}, {'connected_gene': 'LOC105378751', 'score': 0.2}]
chr1 GH01I058761 58761755 58765879 1.47 [{'connected_gene': 'LINC01135', 'score': 11.91}, {'connected_gene': 'JUN', 'score': 11.91}, {'connected_gene': 'MYSM1', 'score': 10.27}, {'connected_gene': 'FGGY', 'score': 9.72}, {'connected_gene': 'LOC105378751', 'score': 0.25}]
chr1 GH01I059018 59018412 59021152 1.53 [{'connected_gene': 'LINC01135', 'score': 10.75}, {'connected_gene': 'JUN', 'score': 10.75}, {'connected_gene': 'MYSM1', 'score': 9.85}, {'connected_gene': 'PHBP3', 'score': 0.34}, {'connected_gene': 'ENSG00000241042', 'score': 0.28}, {'connected_gene': 'LINC01358', 'score': 0.17}]
chr1 GH01I058894 58894802 58905461 2.35 [{'connected_gene': 'LINC01135', 'score': 16.92}, {'connected_gene': 'MYSM1', 'score': 10.99}, {'connected_gene': 'JUN', 'score': 10.88}, {'connected_gene': 'LOC105378753', 'score': 5.49}, {'connected_gene': 'FGGY', 'score': 5.28}, {'connected_gene': 'PIR58695', 'score': 0.44}]
chr1 GH01I058812 58812408 58820209 2.33 [{'connected_gene': 'PIR37218', 'score': 550.77}, {'connected_gene': 'JUN', 'score': 26.96}, {'connected_gene': 'MYSM1', 'score': 11.7}, {'connected_gene': 'LINC01135', 'score': 11.63}, {'connected_gene': 'FGGY', 'score': 2.35}, {'connected_gene': 'ENSG00000272226', 'score': 0.77}, {'connected_gene': 'LOC101926907', 'score': 0.39}, {'connected_gene': 'ENSG00000231740', 'score': 0.29}]
chr1 GH01I059076 59076800 59080635 1.37 [{'connected_gene': 'ENSG00000235215', 'score': 550.77}, {'connected_gene': 'MYSM1', 'score': 10.83}, {'connected_gene': 'LINC01135', 'score': 10.35}, {'connected_gene': 'JUN', 'score': 10.35}, {'connected_gene': 'ENSG00000272226', 'score': 9.99}, {'connected_gene': 'GC01P059086', 'score': 0.44}, {'connected_gene': 'LINC01358', 'score': 0.11}]