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
ENST00000455798 [[54693788, 54694013], [54695211, 54695458], [54695571, 54695815], [54695966, 54696206]] [[54695215, 54695458], [54695571, 54695815], [54695966, 54696206]]
ENST00000456872 [[54694118, 54694222], [54695211, 54695458], [54695571, 54695815], [54695966, 54696224]] [[54694217, 54694222], [54695211, 54695458], [54695571, 54695815], [54695966, 54696224]]
ENST00000302937 [[54694118, 54694301], [54695211, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697521]] [[54695215, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697217]]
ENST00000429671 [[54694137, 54694222], [54695211, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697173], [54697476, 54697585]] [[54695215, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697173], [54697476, 54697526]]
ENST00000496583 [[54694193, 54695815], [54695966, 54696224], [54697029, 54697521]] None
ENST00000396383 [[54694581, 54694888], [54695211, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697521]] [[54695215, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697217]]
ENST00000396388 [[54695103, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697521]] [[54695215, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697217]]
NM_001282333 [[54694118, 54694222], [54695211, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697173], [54697476, 54698394]] [[54694217, 54694222], [54695211, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697173], [54697476, 54697526]]
NM_024075 [[54694118, 54694301], [54695211, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54698394]] [[54695215, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697217]]
NM_001282332 [[54694581, 54694888], [54695211, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54698394]] [[54695215, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697217]]
NM_001077446 [[54695064, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54698394]] [[54695215, 54695458], [54695571, 54695815], [54695966, 54696224], [54697029, 54697217]]
Promoter
Chrom Start End Description
chr19 54694169 54694214 CAGE_peak_2_at_TSEN34_5end
chr19 54695098 54695178 CAGE_peak_1_at_TSEN34_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I054186 54186204 54193039 2.29 [{'connected_gene': 'TSEN34', 'score': 559.63}, {'connected_gene': 'MBOAT7', 'score': 550.77}, {'connected_gene': 'PRPF31', 'score': 35.67}, {'connected_gene': 'ZNF845', 'score': 21.82}, {'connected_gene': 'ZNF665', 'score': 21.48}, {'connected_gene': 'ENSG00000269001', 'score': 19.65}, {'connected_gene': 'ZNF677', 'score': 19.36}, {'connected_gene': 'LENG8', 'score': 14.85}, {'connected_gene': 'CNOT3', 'score': 14.84}, {'connected_gene': 'ENSG00000269288', 'score': 12.98}, {'connected_gene': 'ENSG00000267838', 'score': 12.35}, {'connected_gene': 'LENG8-AS1', 'score': 12.24}, {'connected_gene': 'ZNF525', 'score': 12.04}, {'connected_gene': 'ENSG00000235681', 'score': 11.99}, {'connected_gene': 'LILRB3', 'score': 11.65}, {'connected_gene': 'VN1R103P', 'score': 11.63}, {'connected_gene': 'LILRA6', 'score': 11.59}, {'connected_gene': 'ENSG00000249189', 'score': 11.58}, {'connected_gene': 'LILRB5', 'score': 11.56}, {'connected_gene': 'ZNF761', 'score': 10.51}]
chr19 GH19I054199 54199643 54211777 2.67 [{'connected_gene': 'RPS9', 'score': 576.98}, {'connected_gene': 'PRPF31', 'score': 83.39}, {'connected_gene': 'LENG8', 'score': 76.91}, {'connected_gene': 'LENG8-AS1', 'score': 70.73}, {'connected_gene': 'CNOT3', 'score': 67.81}, {'connected_gene': 'ZNF525', 'score': 63.2}, {'connected_gene': 'ZNF845', 'score': 52.51}, {'connected_gene': 'ENSG00000235681', 'score': 52.44}, {'connected_gene': 'LILRB5', 'score': 41.54}, {'connected_gene': 'ZNF765', 'score': 41.36}, {'connected_gene': 'ZNF761', 'score': 40.82}, {'connected_gene': 'TPM3P6', 'score': 32.66}, {'connected_gene': 'LILRB3', 'score': 22.38}, {'connected_gene': 'LILRA6', 'score': 22.37}, {'connected_gene': 'TPM3P9', 'score': 21.81}, {'connected_gene': 'ZNF677', 'score': 21.27}, {'connected_gene': 'LENG1', 'score': 21.09}, {'connected_gene': 'LILRA2', 'score': 19.95}, {'connected_gene': 'ENSG00000267838', 'score': 18.98}, {'connected_gene': 'MYADM', 'score': 16.9}, {'connected_gene': 'LILRA4', 'score': 15.14}, {'connected_gene': 'VSTM1', 'score': 13.45}, {'connected_gene': 'LILRA5', 'score': 12.73}, {'connected_gene': 'ENSG00000249189', 'score': 12.34}, {'connected_gene': 'TMC4', 'score': 12.22}, {'connected_gene': 'TSEN34', 'score': 12.14}, {'connected_gene': 'ZNF813', 'score': 10.04}, {'connected_gene': 'NLRP12', 'score': 9.94}, {'connected_gene': 'LOC105372457', 'score': 9.83}, {'connected_gene': 'PPP1R12C', 'score': 9.65}, {'connected_gene': 'LILRA1', 'score': 9.52}, {'connected_gene': 'MBOAT7', 'score': 9.27}, {'connected_gene': 'LILRP1', 'score': 8.68}, {'connected_gene': 'LILRB2', 'score': 8.22}, {'connected_gene': 'OSCAR', 'score': 8.08}, {'connected_gene': 'LILRB1', 'score': 6.16}, {'connected_gene': 'LAIR1', 'score': 3.17}, {'connected_gene': 'LILRB4', 'score': 2.67}, {'connected_gene': 'TARM1', 'score': 1.32}, {'connected_gene': 'ENSG00000224579', 'score': 0.77}, {'connected_gene': 'ENSG00000223660', 'score': 0.44}]
chr19 GH19I054178 54178624 54178773 0.76 [{'connected_gene': 'TMC4', 'score': 0.44}, {'connected_gene': 'TSEN34', 'score': 0.39}, {'connected_gene': 'MBOAT7', 'score': 0.39}]
chr19 GH19I054179 54179210 54181067 0.95 [{'connected_gene': 'TMC4', 'score': 9.36}, {'connected_gene': 'TSEN34', 'score': 0.44}, {'connected_gene': 'MBOAT7', 'score': 0.44}]
chr19 GH19I054417 54417808 54422296 1.25 [{'connected_gene': 'LENG8', 'score': 12.14}, {'connected_gene': 'LENG8-AS1', 'score': 12.14}, {'connected_gene': 'TSEN34', 'score': 6.4}, {'connected_gene': 'TTYH1', 'score': 0.77}, {'connected_gene': 'ENSG00000268496', 'score': 0.39}]