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
ENST00000301459 [[63678692, 63679651], [63679776, 63680006], [63680147, 63680205], [63680341, 63680419], [63681425, 63681641], [63681732, 63681802], [63681888, 63682013], [63682126, 63682288], [63682373, 63682426], [63682649, 63682730], [63683026, 63683083], [63683801, 63684316]] [[63679336, 63679651], [63679776, 63680006], [63680147, 63680205], [63680341, 63680419], [63681425, 63681641], [63681732, 63681802], [63681888, 63682013], [63682126, 63682288], [63682373, 63682426], [63682649, 63682730], [63683026, 63683083], [63683801, 63683928]]
ENST00000489217 [[63679359, 63680006], [63680147, 63680205], [63680341, 63680428]] None
ENST00000473926 [[63679426, 63679651], [63679728, 63679779]] None
NM_173587 [[63678692, 63679651], [63679776, 63680006], [63680147, 63680205], [63680341, 63680419], [63681425, 63681641], [63681732, 63681802], [63681888, 63682013], [63682126, 63682288], [63682373, 63682426], [63682649, 63682730], [63683026, 63683083], [63683801, 63684316]] [[63679336, 63679651], [63679776, 63680006], [63680147, 63680205], [63680341, 63680419], [63681425, 63681641], [63681732, 63681802], [63681888, 63682013], [63682126, 63682288], [63682373, 63682426], [63682649, 63682730], [63683026, 63683083], [63683801, 63683928]]
Promoter
Chrom Start End Description
chr11 63684602 63684664 CAGE_peak_1_at_RCOR2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I063937 63937499 63940298 2.04 [{'connected_gene': 'NAA40', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 11.47}, {'connected_gene': 'RTN3', 'score': 5.14}, {'connected_gene': 'RCOR2', 'score': 5.14}, {'connected_gene': 'GC11M063921', 'score': 0.39}, {'connected_gene': 'GC11P063909', 'score': 0.29}, {'connected_gene': 'GC11P063911', 'score': 0.29}]
chr11 GH11I064267 64267086 64274313 1.82 [{'connected_gene': 'GPR137', 'score': 550.77}, {'connected_gene': 'ZFPL1', 'score': 34.68}, {'connected_gene': 'SF1', 'score': 32.9}, {'connected_gene': 'POLA2', 'score': 32.78}, {'connected_gene': 'PLCB3', 'score': 27.53}, {'connected_gene': 'TRMT112', 'score': 23.09}, {'connected_gene': 'DNAJC4', 'score': 21.3}, {'connected_gene': 'ENSG00000257086', 'score': 20.68}, {'connected_gene': 'FAU', 'score': 20.2}, {'connected_gene': 'LOC102723878', 'score': 19.24}, {'connected_gene': 'TRPT1', 'score': 17.08}, {'connected_gene': 'NAALADL1', 'score': 15.12}, {'connected_gene': 'NRXN2', 'score': 13.07}, {'connected_gene': 'KCNK4', 'score': 12.91}, {'connected_gene': 'SPINDOC', 'score': 12.7}, {'connected_gene': 'ATL3', 'score': 12.19}, {'connected_gene': 'ESRRA', 'score': 11.38}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'RCOR2', 'score': 11.14}, {'connected_gene': 'PRDX5', 'score': 10.91}, {'connected_gene': 'PPP2R5B', 'score': 10.6}, {'connected_gene': 'C11orf95', 'score': 10.12}, {'connected_gene': 'ENSG00000231680', 'score': 9.23}, {'connected_gene': 'CCDC88B', 'score': 4.54}, {'connected_gene': 'GC11P064262', 'score': 0.44}, {'connected_gene': 'BAD', 'score': 0.39}]
chr11 GH11I063915 63915419 63921513 1.95 [{'connected_gene': 'RCOR2', 'score': 554.17}, {'connected_gene': 'OTUB1', 'score': 6.44}, {'connected_gene': 'LGALS12', 'score': 2.26}, {'connected_gene': 'GC11P063909', 'score': 0.44}, {'connected_gene': 'GC11M063921', 'score': 0.44}, {'connected_gene': 'GC11P063911', 'score': 0.44}]
chr11 GH11I063912 63912468 63913170 0.46 [{'connected_gene': 'MARK2', 'score': 12.45}, {'connected_gene': 'NAA40', 'score': 12.22}, {'connected_gene': 'RNU6-1306P', 'score': 12.2}, {'connected_gene': 'PLA2G16', 'score': 4.73}, {'connected_gene': 'PIR46613', 'score': 0.77}, {'connected_gene': 'GC11P063911', 'score': 0.77}, {'connected_gene': 'GC11P063909', 'score': 0.77}, {'connected_gene': 'RCOR2', 'score': 0.77}]
chr11 GH11I064372 64372748 64374083 1.29 [{'connected_gene': 'LOC102723878', 'score': 21.83}, {'connected_gene': 'NRXN2', 'score': 5.48}, {'connected_gene': 'RCOR2', 'score': 4.55}, {'connected_gene': 'KCNK4', 'score': 3.49}, {'connected_gene': 'NAA40', 'score': 3.02}, {'connected_gene': 'GPR137', 'score': 1.93}, {'connected_gene': 'CDC42BPG', 'score': 1.61}, {'connected_gene': 'MIR1237', 'score': 0.77}, {'connected_gene': 'GC11M064381', 'score': 0.44}]
chr11 GH11I063908 63908281 63911259 0.74 [{'connected_gene': 'PIR50128', 'score': 550.77}, {'connected_gene': 'PIR46613', 'score': 550.77}, {'connected_gene': 'GC11P063911', 'score': 550.77}, {'connected_gene': 'GC11P063909', 'score': 550.77}, {'connected_gene': 'MARK2', 'score': 12.45}, {'connected_gene': 'RNU6-1306P', 'score': 12.39}, {'connected_gene': 'NAA40', 'score': 12.26}, {'connected_gene': 'SPINDOC', 'score': 11.75}, {'connected_gene': 'MACROD1', 'score': 10.29}, {'connected_gene': 'ENSG00000256341', 'score': 9.98}, {'connected_gene': 'ENSG00000256481', 'score': 9.92}, {'connected_gene': 'PLA2G16', 'score': 4.73}, {'connected_gene': 'RCOR2', 'score': 0.44}]