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
ENST00000301453 [[63753324, 63753986], [63755808, 63755870], [63756125, 63756224], [63764001, 63764413], [63764521, 63764716], [63764820, 63765883]] None
ENST00000541478 [[63753468, 63753986], [63755808, 63755870], [63764521, 63764716], [63764820, 63765848]] [[63753928, 63753986], [63755808, 63755870], [63764521, 63764716], [63764820, 63765018]]
ENST00000535715 [[63753476, 63753986], [63755808, 63755870], [63756125, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63764898], [63765158, 63765240], [63768927, 63768992], [63769187, 63769283]] [[63753928, 63753986], [63755808, 63755870], [63756125, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63764898], [63765158, 63765240], [63768927, 63768992], [63769187, 63769205]]
ENST00000422031 [[63753483, 63753710], [63753832, 63753986], [63755808, 63755870], [63756125, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63765175]] [[63753695, 63753710], [63753832, 63753986], [63755808, 63755870], [63756125, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63765018]]
ENST00000428192 [[63753483, 63753710], [63753832, 63753986], [63755808, 63755870], [63756125, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63765175]] [[63753928, 63753986], [63755808, 63755870], [63756125, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63765018]]
ENST00000538426 [[63753884, 63753986], [63755808, 63755870], [63756125, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63765887]] [[63753928, 63753986], [63755808, 63755870], [63756125, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63765018]]
ENST00000543004 [[63753917, 63753986], [63755808, 63755870], [63756098, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63765811]] [[63753928, 63753986], [63755808, 63755870], [63756098, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63765018]]
ENST00000447683 [[63753920, 63753986], [63755808, 63758057]] None
ENST00000536443 [[63753940, 63753986], [63755808, 63755870], [63756125, 63756224], [63757758, 63758104]] None
ENST00000543988 [[63754313, 63754510], [63755808, 63755870], [63756125, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63765322]] [[63755840, 63755870], [63756125, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63765018]]
ENST00000535140 [[63754315, 63754422], [63755808, 63755870], [63756125, 63756224], [63764001, 63764120], [63764542, 63764716], [63764820, 63764897]] [[63755826, 63755870], [63756125, 63756224], [63764001, 63764120], [63764542, 63764589]]
ENST00000536943 [[63768586, 63768992], [63769187, 63769239]] None
NM_017670 [[63753324, 63753986], [63755808, 63755870], [63756125, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63765892]] [[63753928, 63753986], [63755808, 63755870], [63756125, 63756224], [63764001, 63764120], [63764328, 63764413], [63764521, 63764716], [63764820, 63765018]]
NR_003089 [[63753324, 63753986], [63755808, 63755870], [63756125, 63756224], [63764001, 63764413], [63764521, 63764716], [63764820, 63765892]] None
Promoter
Chrom Start End Description
chr11 63753883 63753929 CAGE_peak_1_at_OTUB1_5end
chr11 63754294 63754323 CAGE_peak_2_at_OTUB1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH11I063530 63530802 63539234 2.7 [{'connected_gene': 'RARRES3', 'score': 555.19}, {'connected_gene': 'CSKMT', 'score': 15.23}, {'connected_gene': 'GANAB', 'score': 12.96}, {'connected_gene': 'SNHG1', 'score': 12.72}, {'connected_gene': 'HRASLS2', 'score': 11.97}, {'connected_gene': 'ENSG00000203520', 'score': 11.27}, {'connected_gene': 'PLA2G16', 'score': 11.27}, {'connected_gene': 'TUT1', 'score': 11.13}, {'connected_gene': 'ENSG00000256789', 'score': 10.94}, {'connected_gene': 'NXF1', 'score': 10.38}, {'connected_gene': 'TAF6L', 'score': 10.24}, {'connected_gene': 'OTUB1', 'score': 5.95}, {'connected_gene': 'MARK2', 'score': 1.39}, {'connected_gene': 'PIR35897', 'score': 0.39}]
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 GH11I064010 64010883 64012415 0.38 [{'connected_gene': 'OTUB1', 'score': 8.53}, {'connected_gene': 'LOC105369340', 'score': 5.22}, {'connected_gene': 'LOC101927673', 'score': 0.39}, {'connected_gene': 'PIR58012', 'score': 0.39}, {'connected_gene': 'MACROD1', 'score': 0.1}]
chr11 GH11I063982 63982209 63982358 0.38 [{'connected_gene': 'OTUB1', 'score': 0.77}, {'connected_gene': 'ENSG00000256100', 'score': 0.44}, {'connected_gene': 'GC11P063911', 'score': 0.19}]
chr11 GH11I063563 63563091 63568920 2.22 [{'connected_gene': 'HRASLS2', 'score': 555.65}, {'connected_gene': 'RARRES3', 'score': 18.08}, {'connected_gene': 'TTC9C', 'score': 13.08}, {'connected_gene': 'ENSG00000203520', 'score': 11.08}, {'connected_gene': 'PLA2G16', 'score': 11.08}, {'connected_gene': 'ENSG00000256789', 'score': 10.74}, {'connected_gene': 'OTUB1', 'score': 7.81}, {'connected_gene': 'LOC105369335', 'score': 0.44}, {'connected_gene': 'GC11M063550', 'score': 0.14}]
chr11 GH11I063976 63976963 63977011 0.39 [{'connected_gene': 'KCNK4', 'score': 2.75}, {'connected_gene': 'ENSG00000256100', 'score': 0.77}, {'connected_gene': 'OTUB1', 'score': 0.44}, {'connected_gene': 'GC11P063909', 'score': 0.2}, {'connected_gene': 'GC11P063911', 'score': 0.2}]
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 GH11I064003 64003990 64004372 0.66 [{'connected_gene': 'MACROD1', 'score': 10.78}, {'connected_gene': 'ENSG00000256481', 'score': 10.62}, {'connected_gene': 'ENSG00000256341', 'score': 10.49}, {'connected_gene': 'OTUB1', 'score': 10.33}, {'connected_gene': 'LOC101927673', 'score': 0.77}, {'connected_gene': 'PIR58012', 'score': 0.37}, {'connected_gene': 'GC11P063911', 'score': 0.15}]
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 GH11I064438 64438458 64439768 0.77 [{'connected_gene': 'SLC22A12', 'score': 11.64}, {'connected_gene': 'NRXN2', 'score': 11.59}, {'connected_gene': 'SLC22A11', 'score': 11.25}, {'connected_gene': 'MIR1237', 'score': 11.17}, {'connected_gene': 'OTUB1', 'score': 4.63}, {'connected_gene': 'GC11P064445', 'score': 0.44}, {'connected_gene': 'ENSG00000231492', 'score': 0.37}]
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 GH11I063998 63998569 63998698 0.38 [{'connected_gene': 'LOC101927673', 'score': 550.77}, {'connected_gene': 'OTUB1', 'score': 0.39}, {'connected_gene': 'GC11P063911', 'score': 0.17}, {'connected_gene': 'MACROD1', 'score': 0.1}]
chr11 GH11I064000 64000400 64000801 1.22 [{'connected_gene': 'LOC101927673', 'score': 550.77}, {'connected_gene': 'ENSG00000256481', 'score': 10.78}, {'connected_gene': 'OTUB1', 'score': 10.36}, {'connected_gene': 'PIR58012', 'score': 0.34}, {'connected_gene': 'GC11P063911', 'score': 0.16}, {'connected_gene': 'MACROD1', 'score': 0.1}]
chr11 GH11I064447 64447683 64450200 1.34 [{'connected_gene': 'LOC100996455', 'score': 550.77}, {'connected_gene': 'NRXN2', 'score': 11.8}, {'connected_gene': 'SLC22A12', 'score': 11.13}, {'connected_gene': 'FERMT3', 'score': 5.6}, {'connected_gene': 'TRMT112', 'score': 5.08}, {'connected_gene': 'EHD1', 'score': 4.87}, {'connected_gene': 'CCDC88B', 'score': 2.69}, {'connected_gene': 'OTUB1', 'score': 1.53}, {'connected_gene': 'RASGRP2', 'score': 1.37}, {'connected_gene': 'SF1', 'score': 1.31}, {'connected_gene': 'GC11P064445', '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 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 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 GH11I063551 63551136 63555068 1.25 [{'connected_gene': 'PIR37090', 'score': 550.77}, {'connected_gene': 'GC11P063556', 'score': 550.77}, {'connected_gene': 'ENSG00000203520', 'score': 11.43}, {'connected_gene': 'PLA2G16', 'score': 11.43}, {'connected_gene': 'ENSG00000256789', 'score': 10.68}, {'connected_gene': 'OTUB1', 'score': 6.67}, {'connected_gene': 'HRASLS2', 'score': 5.81}, {'connected_gene': 'RARRES3', 'score': 4.46}, {'connected_gene': 'GC11M063550', 'score': 0.13}]
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}]

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