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
ENST00000597960 [[18642560, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649246], [18650180, 18650269], [18650360, 18650530], [18652488, 18652805], [18654291, 18654387]] [[18642978, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649246], [18650180, 18650269], [18650360, 18650530], [18652488, 18652780]]
ENST00000610101 [[18642567, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18652488, 18652805], [18654295, 18654383]] [[18642978, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18652488, 18652780]]
ENST00000544835 [[18642567, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18652488, 18652805], [18654295, 18654383]] [[18642992, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18652488, 18652780]]
ENST00000596558 [[18642571, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649243], [18650180, 18650269], [18650360, 18650530], [18652488, 18652805], [18653697, 18653782]] [[18642978, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649243], [18650180, 18650269], [18650360, 18650530], [18652488, 18652780]]
ENST00000222308 [[18642571, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649243], [18650180, 18650269], [18650360, 18650530], [18652488, 18652805], [18654295, 18654334]] [[18642978, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649243], [18650180, 18650269], [18650360, 18650530], [18652488, 18652780]]
ENST00000608443 [[18642571, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649246], [18650180, 18650269], [18650360, 18650530], [18652488, 18652805], [18654295, 18654470]] [[18642978, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649246], [18650180, 18650269], [18650360, 18650530], [18652488, 18652780]]
ENST00000601844 [[18642623, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649246], [18650180, 18650269], [18652488, 18652805], [18654291, 18654387]] [[18650210, 18650269], [18652488, 18652780]]
ENST00000453489 [[18642655, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649243], [18650180, 18650269], [18650360, 18650530], [18652488, 18652805], [18653697, 18653782]] [[18642978, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649243], [18650180, 18650269], [18650360, 18650530], [18652488, 18652805], [18653697, 18653759]]
ENST00000596015 [[18642914, 18643065], [18643473, 18643605], [18648410, 18648583], [18649025, 18649181]] [[18642978, 18643065], [18643473, 18643605], [18648410, 18648583], [18649025, 18649181]]
ENST00000606531 [[18642938, 18643065], [18643473, 18643624], [18644079, 18644157], [18648410, 18648514]] [[18643495, 18643624], [18644079, 18644157], [18648410, 18648514]]
ENST00000596494 [[18648885, 18649246], [18650180, 18650258]] None
ENST00000597611 [[18649025, 18649246], [18650180, 18650269], [18650360, 18650530], [18652488, 18652805], [18654718, 18654887]] [[18649025, 18649246], [18650180, 18650269], [18650360, 18650530], [18652488, 18652780]]
ENST00000599540 [[18649185, 18649246], [18650180, 18650269], [18650360, 18650530], [18652488, 18653308]] [[18649185, 18649246], [18650180, 18650269], [18650360, 18650530], [18652488, 18652780]]
ENST00000594844 [[18650228, 18650269], [18650360, 18650530], [18652488, 18652805], [18653990, 18654055]] [[18650228, 18650269], [18650360, 18650530], [18652488, 18652780]]
ENST00000597547 [[18650241, 18650269], [18650360, 18650530], [18652488, 18652805], [18654234, 18654293]] [[18650241, 18650269], [18650360, 18650530], [18652488, 18652780]]
ENST00000609656 [[18652711, 18652781], [18654718, 18654868]] None
NM_012181 [[18642561, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649246], [18650180, 18650269], [18650360, 18650530], [18652488, 18652805], [18654295, 18654406]] [[18642978, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649246], [18650180, 18650269], [18650360, 18650530], [18652488, 18652780]]
NM_001308373 [[18642561, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649243], [18650180, 18650269], [18650360, 18650530], [18652488, 18652805], [18654295, 18654406]] [[18642978, 18643065], [18643473, 18643605], [18644079, 18644157], [18648410, 18648583], [18649025, 18649243], [18650180, 18650269], [18650360, 18650530], [18652488, 18652780]]
Promoter
Chrom Start End Description
chr19 18652724 18652739 CAGE_peak_10_at_FKBP8_5end
chr19 18652790 18652816 CAGE_peak_5_at_FKBP8_5end
chr19 18653725 18653741 CAGE_peak_4_at_FKBP8_5end
chr19 18653781 18653792 CAGE_peak_16_at_FKBP8_5end
chr19 18653862 18653887 CAGE_peak_2_at_FKBP8_5end
chr19 18654366 18654398 CAGE_peak_1_at_FKBP8_5end
chr19 18654828 18654899 CAGE_peak_3_at_FKBP8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I018498 18498424 18510199 1.63 [{'connected_gene': 'ELL', 'score': 21.01}, {'connected_gene': 'SSBP4', 'score': 18.85}, {'connected_gene': 'FKBP8', 'score': 12.6}, {'connected_gene': 'KXD1', 'score': 12.05}, {'connected_gene': 'UBA52', 'score': 11.9}, {'connected_gene': 'REX1BD', 'score': 11.88}, {'connected_gene': 'LRRC25', 'score': 3.53}, {'connected_gene': 'JUND', 'score': 2.65}, {'connected_gene': 'IL12RB1', 'score': 1.55}, {'connected_gene': 'GC19M018475', 'score': 0.31}]
chr19 GH19I018512 18512572 18523049 2.83 [{'connected_gene': 'ELL', 'score': 569.68}, {'connected_gene': 'SSBP4', 'score': 18.89}, {'connected_gene': 'FKBP8', 'score': 14.22}, {'connected_gene': 'LRRC25', 'score': 6.64}, {'connected_gene': 'PGPEP1', 'score': 5.96}, {'connected_gene': 'IL12RB1', 'score': 5.73}, {'connected_gene': 'JUND', 'score': 5.68}, {'connected_gene': 'KXD1', 'score': 4.75}, {'connected_gene': 'UPF1', 'score': 2.54}, {'connected_gene': 'IFI30', 'score': 1.78}, {'connected_gene': 'UBA52', 'score': 1.3}, {'connected_gene': 'KLHL26', 'score': 1.28}, {'connected_gene': 'GC19M018475', 'score': 0.26}]
chr19 GH19I018086 18086343 18092287 2.5 [{'connected_gene': 'IL12RB1', 'score': 571.7}, {'connected_gene': 'ENSG00000268030', 'score': 70.21}, {'connected_gene': 'UPF1', 'score': 68.58}, {'connected_gene': 'IQCN', 'score': 52.93}, {'connected_gene': 'GTPBP3', 'score': 47.91}, {'connected_gene': 'SUGP2', 'score': 45.53}, {'connected_gene': 'ENSG00000268938', 'score': 36.98}, {'connected_gene': 'ENSG00000269191', 'score': 24.3}, {'connected_gene': 'LOC100507551', 'score': 20.78}, {'connected_gene': 'ELL', 'score': 20.34}, {'connected_gene': 'COLGALT1', 'score': 15.47}, {'connected_gene': 'FKBP8', 'score': 13.44}, {'connected_gene': 'SLC27A1', 'score': 12.01}, {'connected_gene': 'MVB12A', 'score': 11.09}, {'connected_gene': 'ENSG00000269815', 'score': 10.92}, {'connected_gene': 'FCHO1', 'score': 10.23}, {'connected_gene': 'LRRC25', 'score': 8.89}, {'connected_gene': 'UBA52', 'score': 7.84}, {'connected_gene': 'MAST3', 'score': 6.52}, {'connected_gene': 'ARRDC2', 'score': 6.42}, {'connected_gene': 'JAK3', 'score': 6.19}, {'connected_gene': 'IFI30', 'score': 2.68}, {'connected_gene': 'RPS18P13', 'score': 0.26}]
chr19 GH19I018511 18511452 18511820 0.2 [{'connected_gene': 'FKBP8', 'score': 12.98}, {'connected_gene': 'KXD1', 'score': 12.54}, {'connected_gene': 'UBA52', 'score': 11.91}, {'connected_gene': 'SSBP4', 'score': 11.85}, {'connected_gene': 'ELL', 'score': 0.39}, {'connected_gene': 'GC19M018475', 'score': 0.28}]
chr19 GH19I018542 18541779 18544752 2.04 [{'connected_gene': 'FKBP8', 'score': 550.77}, {'connected_gene': 'PIR40896', 'score': 550.77}, {'connected_gene': 'UBA52', 'score': 19.16}, {'connected_gene': 'IQCN', 'score': 13.26}, {'connected_gene': 'UPF1', 'score': 11.18}, {'connected_gene': 'ELL', 'score': 10.89}, {'connected_gene': 'SSBP4', 'score': 8.6}]
chr19 GH19I018698 18698902 18701683 1.66 [{'connected_gene': 'CRTC1', 'score': 6.36}, {'connected_gene': 'CRLF1', 'score': 6.21}, {'connected_gene': 'UBA52', 'score': 4.05}, {'connected_gene': 'FKBP8', 'score': 3.6}, {'connected_gene': 'SLC25A42', 'score': 3.33}, {'connected_gene': 'UPF1', 'score': 1.27}, {'connected_gene': 'JUND', 'score': 1.19}, {'connected_gene': 'GC19P020283', 'score': 0.44}, {'connected_gene': 'GC19M018715', 'score': 0.34}]
chr19 GH19I018492 18492002 18497730 1.51 [{'connected_gene': 'SSBP4', 'score': 18.77}, {'connected_gene': 'ELL', 'score': 12.7}, {'connected_gene': 'FKBP8', 'score': 12.57}, {'connected_gene': 'UBA52', 'score': 12.39}, {'connected_gene': 'CRTC1', 'score': 12.16}, {'connected_gene': 'REX1BD', 'score': 11.62}, {'connected_gene': 'ARRDC2', 'score': 7.61}, {'connected_gene': 'JUND', 'score': 7.52}, {'connected_gene': 'IL12RB1', 'score': 6.56}, {'connected_gene': 'KLHL26', 'score': 2.59}, {'connected_gene': 'IFI30', 'score': 1.76}, {'connected_gene': 'LRRC25', 'score': 1.28}, {'connected_gene': 'UPF1', 'score': 1.28}, {'connected_gene': 'GC19M018475', 'score': 0.37}]
chr19 GH19I018541 18541451 18541640 0.6 [{'connected_gene': 'PIR40896', 'score': 550.77}, {'connected_gene': 'FKBP8', 'score': 0.77}, {'connected_gene': 'ENSG00000269191', 'score': 0.44}]

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