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
ENST00000322886 [[77415026, 77417965], [77419337, 77419762], [77421662, 77421918], [77423610, 77424112], [77426829, 77426902], [77427636, 77427822], [77436844, 77436979], [77438416, 77438575], [77439817, 77440108], [77444355, 77444524], [77449634, 77449910], [77458322, 77458415], [77459124, 77459360]] [[77417794, 77417965], [77419337, 77419762], [77421662, 77421918], [77423610, 77424112], [77426829, 77426902], [77427636, 77427822], [77436844, 77436979], [77438416, 77438575], [77439817, 77440108], [77444355, 77444524], [77449634, 77449910], [77458322, 77458415]]
ENST00000416496 [[77415027, 77417965], [77421662, 77421918], [77423610, 77424112], [77426829, 77426902], [77427636, 77427822], [77436844, 77436979], [77438416, 77438575], [77439817, 77440108], [77444355, 77444524], [77449634, 77449910], [77458322, 77458415], [77459124, 77459343]] [[77417918, 77417965], [77421662, 77421918], [77423610, 77424112], [77426829, 77426902], [77427636, 77427822], [77436844, 77436979], [77438416, 77438575], [77439817, 77440108], [77444355, 77444524], [77449634, 77449910], [77458322, 77458415]]
ENST00000550669 [[77421723, 77421918], [77423610, 77424112], [77426829, 77426902], [77427636, 77427822], [77436844, 77436979], [77438416, 77438575], [77439817, 77440108], [77444355, 77444524], [77449634, 77449910], [77458322, 77458415], [77459124, 77459347]] [[77421723, 77421918], [77423610, 77424112], [77426829, 77426902], [77427636, 77427822], [77436844, 77436979], [77438416, 77438575], [77439817, 77440108], [77444355, 77444524], [77449634, 77449910], [77458322, 77458415]]
ENST00000552907 [[77427785, 77427822], [77436844, 77436979], [77438025, 77438049], [77438416, 77438575], [77439817, 77440108], [77444355, 77444521]] [[77438038, 77438049], [77438416, 77438575], [77439817, 77440108], [77444355, 77444521]]
ENST00000551058 [[77438313, 77438575], [77439817, 77440108], [77444355, 77444526]] [[77438378, 77438575], [77439817, 77440108], [77444355, 77444526]]
ENST00000551558 [[77439401, 77440108], [77444355, 77444524], [77449634, 77449910], [77458322, 77458415], [77459124, 77459343]] None
ENST00000547316 [[77449657, 77449910], [77458322, 77458433], [77459124, 77459330]] [[77449657, 77449910], [77458322, 77458415]]
NM_203394 [[77415025, 77417965], [77419337, 77419762], [77421662, 77421918], [77423610, 77424112], [77426829, 77426902], [77427636, 77427822], [77436844, 77436979], [77438416, 77438575], [77439817, 77440108], [77444355, 77444524], [77449634, 77449910], [77458322, 77458415], [77459124, 77459360]] [[77417794, 77417965], [77419337, 77419762], [77421662, 77421918], [77423610, 77424112], [77426829, 77426902], [77427636, 77427822], [77436844, 77436979], [77438416, 77438575], [77439817, 77440108], [77444355, 77444524], [77449634, 77449910], [77458322, 77458415]]
Promoter
Chrom Start End Description
chr12 77459306 77459365 CAGE_peak_1_at_E2F7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I077031 77031586 77033933 0.83 [{'connected_gene': 'E2F7', 'score': 4.54}, {'connected_gene': 'OSBPL8', 'score': 1.68}, {'connected_gene': 'GC12P077027', 'score': 0.44}]
chr12 GH12I077087 77087521 77087670 0.38 [{'connected_gene': 'E2F7', 'score': 0.34}, {'connected_gene': 'LOC105369853', 'score': 0.29}]
chr12 GH12I077049 77049861 77050050 0.71 [{'connected_gene': 'E2F7', 'score': 0.37}, {'connected_gene': 'GC12P077027', 'score': 0.34}]
chr12 GH12I077058 77058881 77066925 2.34 [{'connected_gene': 'E2F7', 'score': 557.57}, {'connected_gene': 'GC12P077027', 'score': 0.28}]
chr12 GH12I077102 77102476 77105594 0.63 [{'connected_gene': 'LOC105369853', 'score': 0.37}, {'connected_gene': 'E2F7', 'score': 0.28}]
chr12 GH12I077119 77119112 77123607 0.82 [{'connected_gene': 'LOC105369853', 'score': 550.77}, {'connected_gene': 'E2F7', 'score': 4.26}]
chr12 GH12I077116 77116097 77117553 0.2 [{'connected_gene': 'LOC105369853', 'score': 0.44}, {'connected_gene': 'E2F7', 'score': 0.23}]

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