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
ENST00000417225 [[45868668, 45868832], [45877532, 45877641], [45880281, 45880424], [45882398, 45882583], [45883610, 45883699], [45889162, 45889303], [45891056, 45891368], [45891603, 45891755], [45891880, 45892083], [45892392, 45892485], [45893642, 45893784], [45902464, 45902784]] [[45868800, 45868832], [45877532, 45877641], [45880281, 45880424], [45882398, 45882583], [45883610, 45883699], [45889162, 45889303], [45891056, 45891368], [45891603, 45891755], [45891880, 45892083], [45892392, 45892485], [45893642, 45893782]]
ENST00000443527 [[45868956, 45869256], [45877532, 45877641], [45880281, 45880424], [45882398, 45882583], [45883610, 45883699], [45889162, 45889303], [45891056, 45891368], [45891603, 45891755], [45891880, 45892083], [45892392, 45892485], [45893642, 45893784], [45902464, 45904798]] [[45868978, 45869256], [45877532, 45877641], [45880281, 45880424], [45882398, 45882583], [45883610, 45883699], [45889162, 45889303], [45891056, 45891368], [45891603, 45891755], [45891880, 45892083], [45892392, 45892485], [45893642, 45893782]]
ENST00000496571 [[45869028, 45869256], [45877532, 45877867]] None
ENST00000532390 [[45869028, 45869256], [45877532, 45877641], [45880281, 45880424], [45882450, 45882505]] None
ENST00000473199 [[45869028, 45869256], [45877532, 45877641], [45880281, 45880424], [45883610, 45883666]] None
ENST00000533779 [[45879825, 45879932], [45880281, 45880424], [45882398, 45882583], [45883610, 45883699]] None
ENST00000525110 [[45882530, 45882583], [45889162, 45889491]] None
ENST00000495237 [[45882712, 45883699], [45889162, 45889303], [45891056, 45891222]] None
ENST00000496667 [[45888978, 45889303], [45891056, 45891274]] None
ENST00000488962 [[45892163, 45892485], [45893642, 45893784], [45902464, 45902543]] None
NM_001127457 [[45868668, 45868832], [45877532, 45877641], [45880281, 45880424], [45882398, 45882583], [45883610, 45883699], [45889162, 45889303], [45891056, 45891368], [45891603, 45891755], [45891880, 45892083], [45892392, 45892485], [45893642, 45893784], [45902464, 45904799]] [[45868800, 45868832], [45877532, 45877641], [45880281, 45880424], [45882398, 45882583], [45883610, 45883699], [45889162, 45889303], [45891056, 45891368], [45891603, 45891755], [45891880, 45892083], [45892392, 45892485], [45893642, 45893782]]
NM_021117 [[45868956, 45869256], [45877532, 45877641], [45880281, 45880424], [45882398, 45882583], [45883610, 45883699], [45889162, 45889303], [45891056, 45891368], [45891603, 45891755], [45891880, 45892083], [45892392, 45892485], [45893642, 45893784], [45902464, 45904799]] [[45868978, 45869256], [45877532, 45877641], [45880281, 45880424], [45882398, 45882583], [45883610, 45883699], [45889162, 45889303], [45891056, 45891368], [45891603, 45891755], [45891880, 45892083], [45892392, 45892485], [45893642, 45893782]]
Promoter
Chrom Start End Description
chr11 45869019 45869044 CAGE_peak_1_at_CRY2_5end
chr11 45892060 45892062 CAGE_peak_6_at_CRY2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I045875 45875057 45877516 0.2 [{'connected_gene': 'MAPK8IP1', 'score': 16.35}, {'connected_gene': 'DKFZp779M0652', 'score': 6.4}, {'connected_gene': 'CRY2', 'score': 0.31}]
chr11 GH11I045861 45861618 45862451 0.38 [{'connected_gene': 'MAPK8IP1', 'score': 17.45}, {'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.4}, {'connected_gene': 'LARGE2', 'score': 11.38}, {'connected_gene': 'PEX16', 'score': 11.38}, {'connected_gene': 'SLC35C1', 'score': 7.57}, {'connected_gene': 'CRY2', 'score': 0.39}]
chr11 GH11I045854 45854992 45861211 1.14 [{'connected_gene': 'MAPK8IP1', 'score': 29.27}, {'connected_gene': 'ENSG00000255498', 'score': 11.57}, {'connected_gene': 'C11orf94', 'score': 11.57}, {'connected_gene': 'LARGE2', 'score': 11.54}, {'connected_gene': 'PEX16', 'score': 11.54}, {'connected_gene': 'DKFZp779M0652', 'score': 11.47}, {'connected_gene': 'SLC35C1', 'score': 7.83}, {'connected_gene': 'CRY2', 'score': 0.39}]
chr11 GH11I045868 45868892 45869957 0.2 [{'connected_gene': 'MAPK8IP1', 'score': 15.68}, {'connected_gene': 'CRY2', 'score': 11.78}, {'connected_gene': 'SLC35C1', 'score': 8.09}]
chr11 GH11I045872 45872059 45873781 1.03 [{'connected_gene': 'MAPK8IP1', 'score': 19.03}, {'connected_gene': 'CRY2', 'score': 12.18}, {'connected_gene': 'SLC35C1', 'score': 5.03}]
chr11 GH11I045821 45821683 45824983 0.86 [{'connected_gene': 'MAPK8IP1', 'score': 15.89}, {'connected_gene': 'CRY2', 'score': 11.72}, {'connected_gene': 'DKFZp779M0652', 'score': 7.1}, {'connected_gene': 'ENSG00000255447', 'score': 0.39}]
chr11 GH11I045842 45842750 45844319 1.36 [{'connected_gene': 'MAPK8IP1', 'score': 17.62}, {'connected_gene': 'CRY2', 'score': 0.77}, {'connected_gene': 'ENSG00000255447', 'score': 0.29}]
chr11 GH11I045851 45851610 45853059 1.09 [{'connected_gene': 'MAPK8IP1', 'score': 29.26}, {'connected_gene': 'CRY2', 'score': 0.44}]
chr11 GH11I045385 45385866 45386199 0.62 [{'connected_gene': 'SYT13', 'score': 6.81}, {'connected_gene': 'CRY2', 'score': 4.25}, {'connected_gene': 'ENSG00000254651', 'score': 0.39}, {'connected_gene': 'LOC399886', 'score': 0.39}]
chr11 GH11I045832 45832742 45833202 0.57 [{'connected_gene': 'SLC35C1', 'score': 12.75}, {'connected_gene': 'DKFZp779M0652', 'score': 6.96}, {'connected_gene': 'CRY2', 'score': 0.39}, {'connected_gene': 'ENSG00000255447', 'score': 0.37}]
chr11 GH11I045846 45846163 45849359 2.26 [{'connected_gene': 'CRY2', 'score': 550.77}, {'connected_gene': 'MAPK8IP1', 'score': 17.41}, {'connected_gene': 'SLC35C1', 'score': 5.86}]
chr11 GH11I045826 45826590 45826739 0.93 [{'connected_gene': 'CRY2', 'score': 11.72}, {'connected_gene': 'ENSG00000255447', 'score': 0.39}]
chr11 GH11I045374 45374424 45375352 0.71 [{'connected_gene': 'LOC101928812', 'score': 11.52}, {'connected_gene': 'ENSG00000255091', 'score': 11.22}, {'connected_gene': 'CHST1', 'score': 11.22}, {'connected_gene': 'CRY2', 'score': 6.64}, {'connected_gene': 'LOC399886', 'score': 0.77}, {'connected_gene': 'ENSG00000254651', 'score': 0.34}]
chr11 GH11I045662 45662601 45663968 1.05 [{'connected_gene': 'PIR58767', 'score': 550.77}, {'connected_gene': 'CHST1', 'score': 9.44}, {'connected_gene': 'LARGE2', 'score': 4.54}, {'connected_gene': 'MAPK8IP1', 'score': 2.64}, {'connected_gene': 'CRY2', 'score': 1.69}, {'connected_gene': 'SYT13', 'score': 1.63}, {'connected_gene': 'GC11M045649', 'score': 0.77}, {'connected_gene': 'PIRC51', 'score': 0.77}]
chr11 GH11I045879 45879600 45882667 1.11 [{'connected_gene': 'ENSG00000255498', 'score': 12.99}, {'connected_gene': 'C11orf94', 'score': 12.99}, {'connected_gene': 'LARGE2', 'score': 12.95}, {'connected_gene': 'PEX16', 'score': 12.95}, {'connected_gene': 'MAPK8IP1', 'score': 10.52}, {'connected_gene': 'DKFZp779M0652', 'score': 6.39}, {'connected_gene': 'CRY2', 'score': 0.29}]
chr11 GH11I045865 45865616 45866813 0.2 [{'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.42}, {'connected_gene': 'LARGE2', 'score': 11.39}, {'connected_gene': 'PEX16', 'score': 11.39}, {'connected_gene': 'DKFZp779M0652', 'score': 7.49}, {'connected_gene': 'CRY2', 'score': 0.37}, {'connected_gene': 'MAPK8IP1', 'score': 0.37}]
chr11 GH11I045862 45862904 45863978 0.43 [{'connected_gene': 'ENSG00000255498', 'score': 11.42}, {'connected_gene': 'C11orf94', 'score': 11.42}, {'connected_gene': 'LARGE2', 'score': 11.38}, {'connected_gene': 'PEX16', 'score': 11.38}, {'connected_gene': 'CRY2', 'score': 0.37}, {'connected_gene': 'MAPK8IP1', 'score': 0.34}]
chr11 GH11I045817 45816730 45816919 0.43 [{'connected_gene': 'ENSG00000255447', 'score': 0.77}, {'connected_gene': 'CRY2', 'score': 0.29}]
chr11 GH11I045818 45816330 45816376 0.31 [{'connected_gene': 'ENSG00000255447', 'score': 0.77}, {'connected_gene': 'CRY2', 'score': 0.29}]
chr11 GH11I045816 45816924 45817068 0.49 [{'connected_gene': 'ENSG00000255447', 'score': 0.77}, {'connected_gene': 'CRY2', 'score': 0.29}]

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