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
ENST00000221980 [[10400656, 10400801], [10401747, 10402017], [10402164, 10402485], [10402710, 10402998], [10403287, 10403542], [10403673, 10403922], [10404373, 10404619], [10404715, 10404994], [10405076, 10405316], [10406021, 10406288], [10407014, 10407454]] [[10400719, 10400801], [10401747, 10402017], [10402164, 10402485], [10402710, 10402998], [10403287, 10403542], [10403673, 10403922], [10404373, 10404619], [10404715, 10404994], [10405076, 10405316], [10406021, 10406288], [10407014, 10407292]]
ENST00000588912 [[10400668, 10401596]] None
ENST00000586004 [[10400699, 10400801], [10401747, 10401992], [10402164, 10402384]] None
ENST00000587398 [[10401652, 10402017], [10402164, 10402423]] [[10402187, 10402423]]
ENST00000586480 [[10402148, 10402485], [10402710, 10402998], [10403287, 10403542], [10403673, 10403922], [10404373, 10404619], [10404715, 10404994], [10405076, 10405316], [10406021, 10406288], [10407014, 10407452]] None
NM_003259 [[10400654, 10400801], [10401747, 10402017], [10402164, 10402485], [10402710, 10402998], [10403287, 10403542], [10403673, 10403922], [10404373, 10404619], [10404715, 10404994], [10405076, 10405316], [10406021, 10406288], [10407014, 10407454]] [[10400719, 10400801], [10401747, 10402017], [10402164, 10402485], [10402710, 10402998], [10403287, 10403542], [10403673, 10403922], [10404373, 10404619], [10404715, 10404994], [10405076, 10405316], [10406021, 10406288], [10407014, 10407292]]
Promoter
Chrom Start End Description
chr19 10400290 10400331 CAGE_peak_3_at_ICAM5_5end
chr19 10400427 10400453 CAGE_peak_4_at_ICAM5_5end
chr19 10400615 10400705 CAGE_peak_1_at_ICAM5_5end
chr19 10402114 10402120 CAGE_peak_6_at_ICAM5_5end
chr19 10402130 10402168 CAGE_peak_2_at_ICAM5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I010285 10285908 10293475 1.99 [{'connected_gene': 'ICAM5', 'score': 561.52}, {'connected_gene': 'GC19P010288', 'score': 550.77}, {'connected_gene': 'ENSG00000267607', 'score': 550.77}, {'connected_gene': 'GC19P010291', 'score': 550.77}, {'connected_gene': 'ICAM4', 'score': 550.77}, {'connected_gene': 'ILF3', 'score': 48.58}, {'connected_gene': 'ZNF266', 'score': 45.03}, {'connected_gene': 'ZNF699', 'score': 40.71}, {'connected_gene': 'KRI1', 'score': 39.43}, {'connected_gene': 'FBXL12', 'score': 38.74}, {'connected_gene': 'RAVER1', 'score': 37.64}, {'connected_gene': 'ZNF561', 'score': 37.32}, {'connected_gene': 'EIF3G', 'score': 33.15}, {'connected_gene': 'ZNF426', 'score': 33.07}, {'connected_gene': 'ZNF559', 'score': 31.79}, {'connected_gene': 'LOC100419831', 'score': 30.97}, {'connected_gene': 'PPAN', 'score': 22.17}, {'connected_gene': 'TIMM29', 'score': 14.8}, {'connected_gene': 'DOCK6', 'score': 13.75}, {'connected_gene': 'ZNF177', 'score': 11.11}, {'connected_gene': 'ILF3-AS1', 'score': 10.73}, {'connected_gene': 'ZNF562', 'score': 10.63}, {'connected_gene': 'ZNF121', 'score': 10.42}, {'connected_gene': 'ENSG00000267510', 'score': 10.4}, {'connected_gene': 'CDC37', 'score': 10.37}, {'connected_gene': 'S1PR2', 'score': 10.14}, {'connected_gene': 'QTRT1', 'score': 10.12}, {'connected_gene': 'ZNF846', 'score': 9.98}, {'connected_gene': 'ICAM1', 'score': 7.03}, {'connected_gene': 'GC19P010287', 'score': 0.77}, {'connected_gene': 'GC19M010308', 'score': 0.37}]
chr19 GH19I010295 10295101 10296741 0.93 [{'connected_gene': 'ICAM5', 'score': 9.38}, {'connected_gene': 'RAVER1', 'score': 6.36}, {'connected_gene': 'GC19M010308', 'score': 0.39}]
chr19 GH19I010305 10304799 10306064 1.24 [{'connected_gene': 'ICAM5', 'score': 7.94}, {'connected_gene': 'ZGLP1', 'score': 0.77}, {'connected_gene': 'GC19M010308', 'score': 0.77}, {'connected_gene': 'GC19M010309', 'score': 0.77}, {'connected_gene': 'ENSG00000167807', 'score': 0.39}]
chr19 GH19I010303 10303671 10304255 1.03 [{'connected_gene': 'ICAM5', 'score': 6.97}, {'connected_gene': 'GC19M010308', 'score': 0.77}]
chr19 GH19I010250 10250000 10250401 1.06 [{'connected_gene': 'MRPL4', 'score': 557.52}, {'connected_gene': 'ICAM4', 'score': 12.01}, {'connected_gene': 'ICAM5', 'score': 12.01}, {'connected_gene': 'EIF3G', 'score': 11.78}, {'connected_gene': 'TYK2', 'score': 11.14}, {'connected_gene': 'C19orf66', 'score': 11.12}, {'connected_gene': 'S1PR2', 'score': 0.37}]
chr19 GH19I010338 10338201 10340486 1.42 [{'connected_gene': 'ICAM3', 'score': 564.46}, {'connected_gene': 'ENSG00000167807', 'score': 13.72}, {'connected_gene': 'ZGLP1', 'score': 13.7}, {'connected_gene': 'TYK2', 'score': 13.0}, {'connected_gene': 'ICAM5', 'score': 12.56}, {'connected_gene': 'ICAM4', 'score': 12.55}, {'connected_gene': 'ICAM1', 'score': 12.16}, {'connected_gene': 'MRPL4', 'score': 12.13}, {'connected_gene': 'PIR48013', 'score': 0.77}]
chr19 GH19I010301 10301551 10302457 0.31 [{'connected_gene': 'RAVER1', 'score': 8.65}, {'connected_gene': 'ICAM5', 'score': 6.61}, {'connected_gene': 'GC19M010308', 'score': 0.44}]
chr19 GH19I010399 10399045 10399194 0.49 [{'connected_gene': 'CDC37', 'score': 12.84}, {'connected_gene': 'ICAM1', 'score': 12.54}, {'connected_gene': 'MRPL4', 'score': 12.52}, {'connected_gene': 'ICAM5', 'score': 12.4}, {'connected_gene': 'ICAM4', 'score': 12.39}, {'connected_gene': 'RAVER1', 'score': 12.08}, {'connected_gene': 'MIR1181', 'score': 0.77}, {'connected_gene': 'GC19P010382', 'score': 0.37}]
chr19 GH19I010400 10400958 10407476 2.39 [{'connected_gene': 'MIR1181', 'score': 550.77}, {'connected_gene': 'CDC37', 'score': 550.37}, {'connected_gene': 'ICAM1', 'score': 18.24}, {'connected_gene': 'MRPL4', 'score': 12.52}, {'connected_gene': 'ICAM5', 'score': 12.39}, {'connected_gene': 'ICAM4', 'score': 12.38}, {'connected_gene': 'RAVER1', 'score': 12.07}, {'connected_gene': 'PDE4A', 'score': 10.77}, {'connected_gene': 'TYK2', 'score': 5.84}, {'connected_gene': 'C19orf38', 'score': 4.48}, {'connected_gene': 'P2RY11', 'score': 2.08}, {'connected_gene': 'ICAM3', 'score': 1.7}, {'connected_gene': 'DNM2', 'score': 1.29}, {'connected_gene': 'GC19P010412', 'score': 0.44}]
chr19 GH19I010390 10390785 10390954 0.76 [{'connected_gene': 'ZGLP1', 'score': 13.02}, {'connected_gene': 'ICAM5', 'score': 12.99}, {'connected_gene': 'ICAM1', 'score': 12.84}, {'connected_gene': 'MRPL4', 'score': 12.83}, {'connected_gene': 'ICAM4', 'score': 12.38}, {'connected_gene': 'EIF3G', 'score': 11.1}, {'connected_gene': 'GC19P010382', 'score': 0.44}, {'connected_gene': 'MIR1181', 'score': 0.39}]
chr19 GH19I010388 10388965 10389154 0.81 [{'connected_gene': 'ZGLP1', 'score': 13.03}, {'connected_gene': 'ICAM5', 'score': 13.0}, {'connected_gene': 'ICAM1', 'score': 12.84}, {'connected_gene': 'MRPL4', 'score': 12.83}, {'connected_gene': 'ICAM4', 'score': 12.38}, {'connected_gene': 'EIF3G', 'score': 11.11}, {'connected_gene': 'GC19P010382', 'score': 0.44}, {'connected_gene': 'MIR1181', 'score': 0.39}]
chr19 GH19I010389 10389945 10390094 0.43 [{'connected_gene': 'ZGLP1', 'score': 13.02}, {'connected_gene': 'ICAM5', 'score': 12.99}, {'connected_gene': 'ICAM1', 'score': 12.84}, {'connected_gene': 'MRPL4', 'score': 12.83}, {'connected_gene': 'ICAM4', 'score': 12.38}, {'connected_gene': 'EIF3G', 'score': 11.1}, {'connected_gene': 'GC19P010382', 'score': 0.44}, {'connected_gene': 'MIR1181', 'score': 0.39}]
chr19 GH19I010299 10299202 10300664 1.36 [{'connected_gene': 'GC19M010308', 'score': 0.44}, {'connected_gene': 'ICAM5', 'score': 0.39}]
chr19 GH19I010304 10304565 10304714 0.72 [{'connected_gene': 'GC19M010308', 'score': 0.77}, {'connected_gene': 'ICAM5', 'score': 0.37}]