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
ENST00000338447 [[63706430, 63706574], [63713311, 63714475], [63719709, 63719805], [63719878, 63720037], [63720227, 63720311], [63721443, 63721521], [63721809, 63724791]] None
ENST00000536939 [[63706465, 63706574], [63713311, 63713407], [63714422, 63714475], [63719709, 63719805], [63719878, 63720091]] None
ENST00000456907 [[63706467, 63706574], [63713311, 63713407], [63719709, 63719805], [63719878, 63720037], [63720227, 63720311], [63721443, 63721521], [63721809, 63722147]] [[63713372, 63713407], [63719709, 63719805], [63719878, 63720037], [63720227, 63720311], [63721443, 63721521], [63721809, 63721951]]
ENST00000534965 [[63706467, 63706574], [63713311, 63713407], [63719709, 63719805], [63719878, 63720037], [63720227, 63720311], [63721443, 63721521], [63721809, 63722147]] [[63706568, 63706574], [63713311, 63713407], [63719709, 63719727]]
ENST00000377793 [[63706467, 63706574], [63713311, 63713407], [63714422, 63714475], [63719709, 63719805], [63719878, 63720037], [63720227, 63720311], [63721443, 63721521], [63721809, 63724800]] [[63706568, 63706574], [63713311, 63713407], [63714422, 63714475], [63719709, 63719805], [63719878, 63720037], [63720227, 63720311], [63721443, 63721521], [63721809, 63721951]]
ENST00000539656 [[63706473, 63706574], [63713311, 63713407], [63714422, 63714475], [63721443, 63721521], [63721809, 63722058]] [[63706568, 63706574], [63713311, 63713407], [63714422, 63714475], [63721443, 63721521], [63721809, 63721951]]
ENST00000544138 [[63706473, 63706574], [63713311, 63713407], [63714196, 63714475], [63721443, 63721521], [63721809, 63722063]] [[63706568, 63706574], [63713311, 63713407], [63714196, 63714304]]
ENST00000542163 [[63706719, 63707006], [63713311, 63713407], [63714422, 63714475], [63719709, 63719805], [63719878, 63720037], [63720227, 63720311], [63721443, 63721521], [63721809, 63721991]] [[63713368, 63713407], [63714422, 63714475], [63719709, 63719805], [63719878, 63720037], [63720227, 63720311], [63721443, 63721521], [63721809, 63721951]]
ENST00000545161 [[63719619, 63719805], [63719878, 63720043]] None
ENST00000544194 [[63719840, 63720311], [63721443, 63721521], [63721809, 63722189]] None
ENST00000542633 [[63719874, 63720037], [63720130, 63720311], [63721443, 63721521], [63721809, 63721946]] None
NM_024771 [[63706441, 63706574], [63713311, 63713407], [63714422, 63714475], [63719709, 63719805], [63719878, 63720037], [63720227, 63720311], [63721443, 63721521], [63721809, 63724791]] [[63706568, 63706574], [63713311, 63713407], [63714422, 63714475], [63719709, 63719805], [63719878, 63720037], [63720227, 63720311], [63721443, 63721521], [63721809, 63721951]]
NM_001300800 [[63706802, 63707006], [63713311, 63713407], [63714422, 63714475], [63719709, 63719805], [63719878, 63720037], [63720227, 63720311], [63721443, 63721521], [63721809, 63724791]] [[63713368, 63713407], [63714422, 63714475], [63719709, 63719805], [63719878, 63720037], [63720227, 63720311], [63721443, 63721521], [63721809, 63721951]]
Promoter
Chrom Start End Description
chr11 63706444 63706486 CAGE_peak_1_at_NAA40_5end
chr11 63706494 63706505 CAGE_peak_3_at_NAA40_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 GH11I063978 63978039 63979599 0.43 [{'connected_gene': 'NAA40', 'score': 4.51}, {'connected_gene': 'ENSG00000256100', 'score': 0.77}, {'connected_gene': 'OTUB1', 'score': 0.44}, {'connected_gene': 'GC11P063909', 'score': 0.19}, {'connected_gene': 'GC11P063911', 'score': 0.19}]
chr11 GH11I063865 63865496 63875253 1.43 [{'connected_gene': 'NAA40', 'score': 17.74}, {'connected_gene': 'MARK2', 'score': 12.42}, {'connected_gene': 'SPINDOC', 'score': 11.07}, {'connected_gene': 'RTN3', 'score': 10.22}, {'connected_gene': 'PLA2G16', 'score': 5.8}, {'connected_gene': 'LOC105369340', 'score': 4.57}, {'connected_gene': 'GC11M063862', 'score': 0.44}, {'connected_gene': 'RNU6-1306P', 'score': 0.39}]
chr11 GH11I063901 63901344 63902732 0.52 [{'connected_gene': 'NAA40', 'score': 12.23}, {'connected_gene': 'SPINDOC', 'score': 11.39}, {'connected_gene': 'ENSG00000256481', 'score': 9.55}, {'connected_gene': 'GC11M063888', 'score': 0.77}, {'connected_gene': 'GC11P063909', 'score': 0.44}, {'connected_gene': 'MARK2', 'score': 0.21}]
chr11 GH11I063879 63879402 63880799 0.83 [{'connected_gene': 'NAA40', 'score': 4.71}, {'connected_gene': 'GC11M063878', 'score': 0.77}, {'connected_gene': 'RNU6-1306P', 'score': 0.77}, {'connected_gene': 'GC11M063862', 'score': 0.37}, {'connected_gene': 'MARK2', 'score': 0.26}]
chr11 GH11I063959 63959792 63960371 0.31 [{'connected_gene': 'NAA40', 'score': 4.53}, {'connected_gene': 'GC11P063971', 'score': 0.39}, {'connected_gene': 'GC11P063909', 'score': 0.23}, {'connected_gene': 'GC11P063911', 'score': 0.23}]
chr11 GH11I063940 63940310 63941415 0.46 [{'connected_gene': 'NAA40', 'score': 550.77}, {'connected_gene': 'GC11P063971', 'score': 0.31}, {'connected_gene': 'GC11P063909', 'score': 0.29}, {'connected_gene': 'GC11P063911', 'score': 0.29}]
chr11 GH11I063985 63985438 63987785 2.04 [{'connected_gene': 'OTUB1', 'score': 560.7}, {'connected_gene': 'NAA40', 'score': 4.66}, {'connected_gene': 'SPINDOC', 'score': 4.01}, {'connected_gene': 'LOC101927673', 'score': 0.39}, {'connected_gene': 'ENSG00000256100', 'score': 0.39}, {'connected_gene': 'GC11P063911', 'score': 0.18}]
chr11 GH11I063960 63960927 63962999 0.88 [{'connected_gene': 'OTUB1', 'score': 9.47}, {'connected_gene': 'NAA40', 'score': 4.67}, {'connected_gene': 'GC11P063971', 'score': 0.44}, {'connected_gene': 'GC11P063909', 'score': 0.23}, {'connected_gene': 'GC11P063911', 'score': 0.23}]
chr11 GH11I064006 64006742 64008823 1.67 [{'connected_gene': 'MACROD1', 'score': 11.1}, {'connected_gene': 'ENSG00000256341', 'score': 11.04}, {'connected_gene': 'ENSG00000256481', 'score': 10.98}, {'connected_gene': 'OTUB1', 'score': 9.8}, {'connected_gene': 'NAA40', 'score': 4.51}, {'connected_gene': 'KCNK4', 'score': 1.72}, {'connected_gene': 'LOC101927673', 'score': 0.44}, {'connected_gene': 'PIR58012', 'score': 0.39}, {'connected_gene': 'GC11P063911', 'score': 0.15}]
chr11 GH11I063784 63784086 63784689 0.59 [{'connected_gene': 'ATL3', 'score': 14.98}, {'connected_gene': 'SPINDOC', 'score': 12.66}, {'connected_gene': 'NAA40', 'score': 10.65}, {'connected_gene': 'RTN3', 'score': 10.59}, {'connected_gene': 'RN7SL596P', 'score': 0.39}, {'connected_gene': 'C11orf95', 'score': 0.37}]
chr11 GH11I063728 63728933 63728949 0.27 [{'connected_gene': 'ATL3', 'score': 10.91}, {'connected_gene': 'ENSG00000256789', 'score': 10.35}, {'connected_gene': 'NAA40', 'score': 1.56}, {'connected_gene': 'GC11M063761', 'score': 0.29}, {'connected_gene': 'ENSG00000271100', 'score': 0.29}, {'connected_gene': 'RTN3', 'score': 0.25}]
chr11 GH11I063895 63895785 63899265 0.52 [{'connected_gene': 'MARK2', 'score': 12.2}, {'connected_gene': 'NAA40', 'score': 11.52}, {'connected_gene': 'C11orf95', 'score': 4.9}, {'connected_gene': 'PLA2G16', 'score': 4.89}, {'connected_gene': 'GC11M063888', 'score': 0.77}, {'connected_gene': 'TRR-CCT9-1', 'score': 0.77}]
chr11 GH11I063891 63891277 63892123 0.31 [{'connected_gene': 'MARK2', 'score': 12.03}, {'connected_gene': 'NAA40', 'score': 11.27}, {'connected_gene': 'PLA2G16', 'score': 4.91}, {'connected_gene': 'TRR-CCT9-1', 'score': 0.77}, {'connected_gene': 'GC11M063888', 'score': 0.44}, {'connected_gene': 'GC11M063878', '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 GH11I063837 63837309 63843823 2.44 [{'connected_gene': 'MARK2', 'score': 556.33}, {'connected_gene': 'SF1', 'score': 20.23}, {'connected_gene': 'SNHG1', 'score': 17.0}, {'connected_gene': 'NAA40', 'score': 12.18}, {'connected_gene': 'RNU6-1306P', 'score': 12.03}, {'connected_gene': 'PLCB3', 'score': 11.12}, {'connected_gene': 'CCND2P1', 'score': 5.01}, {'connected_gene': 'COX8A', 'score': 4.78}, {'connected_gene': 'FERMT3', 'score': 3.57}, {'connected_gene': 'RTN3', 'score': 1.83}, {'connected_gene': 'LGALS12', 'score': 1.32}, {'connected_gene': 'GC11M063862', 'score': 0.34}]
chr11 GH11I063934 63934575 63934925 0.64 [{'connected_gene': 'MARK2', 'score': 11.73}, {'connected_gene': 'RNU6-1306P', 'score': 11.63}, {'connected_gene': 'ENSG00000256341', 'score': 9.55}, {'connected_gene': 'NAA40', 'score': 0.77}, {'connected_gene': 'GC11M063921', 'score': 0.44}, {'connected_gene': 'GC11P063909', 'score': 0.31}, {'connected_gene': 'GC11P063911', 'score': 0.31}]
chr11 GH11I063902 63902741 63906586 0.46 [{'connected_gene': 'RNU6-1306P', 'score': 12.41}, {'connected_gene': 'NAA40', 'score': 12.24}, {'connected_gene': 'SPINDOC', 'score': 11.38}, {'connected_gene': 'ENSG00000256481', 'score': 9.55}, {'connected_gene': 'PLA2G16', 'score': 4.89}, {'connected_gene': 'GC11M063888', 'score': 0.77}, {'connected_gene': 'GC11P063909', 'score': 0.77}, {'connected_gene': 'MARK2', 'score': 0.2}]
chr11 GH11I063854 63854876 63860479 1.27 [{'connected_gene': 'RNU6-1306P', 'score': 12.86}, {'connected_gene': 'NAA40', 'score': 11.31}, {'connected_gene': 'ENSG00000269038', 'score': 9.84}, {'connected_gene': 'ENSG00000256341', 'score': 9.08}, {'connected_gene': 'PLA2G16', 'score': 5.94}, {'connected_gene': 'SPINDOC', 'score': 4.6}, {'connected_gene': 'LOC105369340', 'score': 4.3}, {'connected_gene': 'GC11M063862', 'score': 0.44}, {'connected_gene': 'MARK2', 'score': 0.37}]
chr11 GH11I064163 64163419 64167428 2.04 [{'connected_gene': 'LOC105369339', 'score': 550.77}, {'connected_gene': 'MACROD1', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 32.64}, {'connected_gene': 'TRPT1', 'score': 32.25}, {'connected_gene': 'ZFPL1', 'score': 26.06}, {'connected_gene': 'PLCB3', 'score': 22.87}, {'connected_gene': 'TRMT112', 'score': 19.01}, {'connected_gene': 'ATG2A', 'score': 17.73}, {'connected_gene': 'ENSG00000257086', 'score': 14.2}, {'connected_gene': 'VPS51', 'score': 13.39}, {'connected_gene': 'SYVN1', 'score': 11.79}, {'connected_gene': 'FAU', 'score': 11.46}, {'connected_gene': 'ENSG00000256481', 'score': 10.55}, {'connected_gene': 'ENSG00000256341', 'score': 10.32}, {'connected_gene': 'MRPL49', 'score': 10.04}, {'connected_gene': 'NAA40', 'score': 9.99}, {'connected_gene': 'CCDC88B', 'score': 8.51}, {'connected_gene': 'ENSG00000256116', 'score': 5.8}, {'connected_gene': 'TM7SF2', 'score': 5.01}, {'connected_gene': 'PIR54353', 'score': 0.39}, {'connected_gene': 'GC11M064153', 'score': 0.39}]
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 GH11I063999 63998949 64000024 1.39 [{'connected_gene': 'LOC101927673', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 15.23}, {'connected_gene': 'ENSG00000257086', 'score': 11.6}, {'connected_gene': 'MEN1', 'score': 10.84}, {'connected_gene': 'OTUB1', 'score': 10.32}, {'connected_gene': 'RARRES3', 'score': 4.64}, {'connected_gene': 'NAA40', 'score': 4.6}, {'connected_gene': 'FKBP2', 'score': 4.29}, {'connected_gene': 'GC11P063911', 'score': 0.16}, {'connected_gene': 'MACROD1', 'score': 0.1}]
chr11 GH11I064180 64180515 64182599 1.15 [{'connected_gene': 'PIR62169', 'score': 550.77}, {'connected_gene': 'PIR58555', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 33.91}, {'connected_gene': 'FERMT3', 'score': 11.83}, {'connected_gene': 'ENSG00000257086', 'score': 10.84}, {'connected_gene': 'PLCB3', 'score': 10.84}, {'connected_gene': 'ENSG00000256341', 'score': 10.34}, {'connected_gene': 'NAA40', 'score': 9.75}, {'connected_gene': 'CCDC88B', 'score': 8.55}, {'connected_gene': 'STIP1', 'score': 0.77}]
chr11 GH11I064001 64001663 64003654 0.84 [{'connected_gene': 'ENSG00000256481', 'score': 10.79}, {'connected_gene': 'MACROD1', 'score': 10.78}, {'connected_gene': 'ENSG00000256341', 'score': 10.49}, {'connected_gene': 'NAA40', 'score': 4.78}, {'connected_gene': 'LOC101927673', 'score': 0.77}, {'connected_gene': 'OTUB1', 'score': 0.37}, {'connected_gene': 'PIR58012', 'score': 0.37}, {'connected_gene': 'GC11P063911', 'score': 0.16}]
chr11 GH11I063862 63862244 63863640 1.23 [{'connected_gene': 'GC11M063862', 'score': 550.77}, {'connected_gene': 'MARK2', 'score': 12.47}, {'connected_gene': 'NAA40', 'score': 11.55}, {'connected_gene': 'SPINDOC', 'score': 11.1}, {'connected_gene': 'RTN3', 'score': 10.23}, {'connected_gene': 'ENSG00000256341', 'score': 9.35}, {'connected_gene': 'COX8A', 'score': 4.97}, {'connected_gene': 'RNU6-1306P', 'score': 0.37}]
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}]
chr11 GH11I063973 63973889 63976879 2.08 [{'connected_gene': 'ENSG00000256100', 'score': 550.77}, {'connected_gene': 'COX8A', 'score': 550.77}, {'connected_gene': 'SF1', 'score': 41.6}, {'connected_gene': 'PLCB3', 'score': 21.43}, {'connected_gene': 'TRMT112', 'score': 12.23}, {'connected_gene': 'ATG2A', 'score': 11.08}, {'connected_gene': 'ENSG00000257086', 'score': 10.75}, {'connected_gene': 'OTUB1', 'score': 10.33}, {'connected_gene': 'DNAJC4', 'score': 9.71}, {'connected_gene': 'NAA40', 'score': 4.51}, {'connected_gene': 'GC11P063911', 'score': 0.2}, {'connected_gene': 'GC11P063909', 'score': 0.2}]
chr11 GH11I063950 63950778 63953043 0.87 [{'connected_gene': 'ENSG00000256100', 'score': 12.4}, {'connected_gene': 'COX8A', 'score': 12.4}, {'connected_gene': 'MARK2', 'score': 11.81}, {'connected_gene': 'RNU6-1306P', 'score': 10.97}, {'connected_gene': 'SPINDOC', 'score': 10.95}, {'connected_gene': 'MACROD1', 'score': 10.06}, {'connected_gene': 'ENSG00000256481', 'score': 9.82}, {'connected_gene': 'ENSG00000256341', 'score': 9.75}, {'connected_gene': 'ENSG00000257086', 'score': 9.5}, {'connected_gene': 'PLCB3', 'score': 9.5}, {'connected_gene': 'NAA40', 'score': 0.39}, {'connected_gene': 'GC11P063971', 'score': 0.37}, {'connected_gene': 'GC11P063911', 'score': 0.26}, {'connected_gene': 'GC11P063909', 'score': 0.26}]
chr11 GH11I063944 63944284 63946578 1.05 [{'connected_gene': 'ENSG00000256100', 'score': 12.37}, {'connected_gene': 'COX8A', 'score': 12.37}, {'connected_gene': 'RNU6-45P', 'score': 12.37}, {'connected_gene': 'RNU6-1306P', 'score': 10.98}, {'connected_gene': 'ENSG00000256341', 'score': 9.36}, {'connected_gene': 'OTUB1', 'score': 6.4}, {'connected_gene': 'NAA40', 'score': 0.44}, {'connected_gene': 'GC11P063971', 'score': 0.31}, {'connected_gene': 'GC11P063911', 'score': 0.28}, {'connected_gene': 'GC11P063909', 'score': 0.28}]
chr11 GH11I064183 64183481 64187865 2.33 [{'connected_gene': 'GC11M064182', 'score': 550.77}, {'connected_gene': 'STIP1', 'score': 550.77}, {'connected_gene': 'TRPT1', 'score': 24.67}, {'connected_gene': 'ENSG00000257086', 'score': 21.53}, {'connected_gene': 'IMMP1LP1', 'score': 13.74}, {'connected_gene': 'FERMT3', 'score': 13.36}, {'connected_gene': 'SF1', 'score': 11.49}, {'connected_gene': 'C11orf95', 'score': 11.35}, {'connected_gene': 'ZNHIT2', 'score': 11.22}, {'connected_gene': 'PLCB3', 'score': 10.84}, {'connected_gene': 'ENSG00000256341', 'score': 10.34}, {'connected_gene': 'DNAJC4', 'score': 9.9}, {'connected_gene': 'NAA40', 'score': 9.75}, {'connected_gene': 'ZFPL1', 'score': 9.73}, {'connected_gene': 'VEGFB', 'score': 7.97}, {'connected_gene': 'ENSG00000256116', 'score': 5.65}, {'connected_gene': 'OTUB1', 'score': 2.03}, {'connected_gene': 'CCDC88B', 'score': 1.86}]
chr11 GH11I063906 63906669 63906838 0.58 [{'connected_gene': 'GC11P063909', 'score': 550.77}, {'connected_gene': 'RNU6-1306P', 'score': 12.41}, {'connected_gene': 'NAA40', 'score': 12.24}, {'connected_gene': 'SPINDOC', 'score': 11.38}, {'connected_gene': 'ENSG00000256481', 'score': 9.55}, {'connected_gene': 'GC11M063888', 'score': 0.44}, {'connected_gene': 'MARK2', 'score': 0.2}]
chr11 GH11I063907 63907929 63908158 0.63 [{'connected_gene': 'PIR50128', 'score': 550.77}, {'connected_gene': 'GC11P063911', 'score': 550.77}, {'connected_gene': 'GC11P063909', 'score': 550.77}, {'connected_gene': 'RNU6-1306P', 'score': 12.39}, {'connected_gene': 'NAA40', 'score': 12.24}, {'connected_gene': 'SPINDOC', 'score': 11.38}, {'connected_gene': 'ENSG00000256481', 'score': 9.55}, {'connected_gene': 'GC11M063888', 'score': 0.44}, {'connected_gene': 'MARK2', 'score': 0.2}]

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