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
ENST00000511206 [[74632153, 74632442], [74638407, 74638595], [74639677, 74639789], [74640069, 74640157], [74641398, 74641483], [74643028, 74643134], [74645866, 74645973], [74646082, 74646199], [74646613, 74646774], [74646892, 74647140], [74647248, 74647427], [74650327, 74650522], [74650880, 74651039], [74651189, 74651347], [74652167, 74652273], [74654481, 74654652], [74654994, 74655135], [74655222, 74655381], [74655809, 74655964], [74656112, 74656583]] [[74638430, 74638595], [74639677, 74639789], [74640069, 74640157], [74641398, 74641483], [74643028, 74643134], [74645866, 74645973], [74646082, 74646199], [74646613, 74646774], [74646892, 74647140], [74647248, 74647427], [74650327, 74650522], [74650880, 74651039], [74651189, 74651347], [74652167, 74652273], [74654481, 74654652], [74654994, 74655135], [74655222, 74655381], [74655809, 74655964], [74656112, 74656167]]
ENST00000287936 [[74632992, 74633125], [74638407, 74638595], [74639677, 74639789], [74640069, 74640157], [74641398, 74641483], [74643028, 74643134], [74645866, 74645973], [74646082, 74646199], [74646613, 74646774], [74646892, 74647140], [74647248, 74647427], [74650327, 74650522], [74650880, 74651039], [74651189, 74651347], [74652167, 74652273], [74654481, 74654652], [74654994, 74655135], [74655222, 74655381], [74655809, 74655964], [74656112, 74657929]] [[74638430, 74638595], [74639677, 74639789], [74640069, 74640157], [74641398, 74641483], [74643028, 74643134], [74645866, 74645973], [74646082, 74646199], [74646613, 74646774], [74646892, 74647140], [74647248, 74647427], [74650327, 74650522], [74650880, 74651039], [74651189, 74651347], [74652167, 74652273], [74654481, 74654652], [74654994, 74655135], [74655222, 74655381], [74655809, 74655964], [74656112, 74656167]]
ENST00000343975 [[74633056, 74633125], [74638407, 74638595], [74639677, 74639789], [74640069, 74640157], [74641398, 74641483], [74643028, 74643134], [74645866, 74645973], [74646082, 74646199], [74646613, 74646774], [74646892, 74647140], [74647248, 74647427], [74650327, 74650522], [74651189, 74651347], [74652167, 74652273], [74654481, 74654652], [74654994, 74655135], [74655222, 74655381], [74655809, 74655964], [74656112, 74657248]] [[74638430, 74638595], [74639677, 74639789], [74640069, 74640157], [74641398, 74641483], [74643028, 74643134], [74645866, 74645973], [74646082, 74646199], [74646613, 74646774], [74646892, 74647140], [74647248, 74647427], [74650327, 74650522], [74651189, 74651347], [74652167, 74652273], [74654481, 74654652], [74654994, 74655135], [74655222, 74655381], [74655809, 74655964], [74656112, 74656167]]
ENST00000509431 [[74633070, 74633125], [74638407, 74638595], [74639677, 74639855]] None
ENST00000507942 [[74633957, 74634128], [74638407, 74638595], [74639677, 74639789], [74640069, 74640125]] [[74638430, 74638595], [74639677, 74639789], [74640069, 74640125]]
ENST00000442032 [[74635356, 74635546], [74638407, 74638485]] [[74638430, 74638485]]
ENST00000504466 [[74645687, 74645973], [74646082, 74646199], [74646613, 74646774], [74646892, 74647435]] None
ENST00000515776 [[74650132, 74650522], [74650880, 74650991]] None
ENST00000508070 [[74651004, 74651347], [74652167, 74652274]] None
ENST00000509085 [[74654506, 74654652], [74654994, 74655135], [74655809, 74655964], [74656112, 74656307]] [[74654506, 74654652], [74654994, 74655135], [74655809, 74655964], [74656112, 74656167]]
ENST00000511986 [[74654514, 74654652], [74655809, 74655964], [74656112, 74656306]] [[74654514, 74654652], [74655809, 74655964], [74656112, 74656167]]
ENST00000514315 [[74654554, 74654652], [74654994, 74655135], [74655222, 74655586]] None
ENST00000512053 [[74655741, 74655964], [74656112, 74656354]] None
NM_001130996 [[74632992, 74633125], [74638407, 74638595], [74639677, 74639789], [74640069, 74640157], [74641398, 74641483], [74643028, 74643134], [74645866, 74645973], [74646082, 74646199], [74646613, 74646774], [74646892, 74647140], [74647248, 74647427], [74650327, 74650522], [74651189, 74651347], [74652167, 74652273], [74654481, 74654652], [74654994, 74655135], [74655222, 74655381], [74655809, 74655964], [74656112, 74657926]] [[74638430, 74638595], [74639677, 74639789], [74640069, 74640157], [74641398, 74641483], [74643028, 74643134], [74645866, 74645973], [74646082, 74646199], [74646613, 74646774], [74646892, 74647140], [74647248, 74647427], [74650327, 74650522], [74651189, 74651347], [74652167, 74652273], [74654481, 74654652], [74654994, 74655135], [74655222, 74655381], [74655809, 74655964], [74656112, 74656167]]
NM_000859 [[74632992, 74633125], [74638407, 74638595], [74639677, 74639789], [74640069, 74640157], [74641398, 74641483], [74643028, 74643134], [74645866, 74645973], [74646082, 74646199], [74646613, 74646774], [74646892, 74647140], [74647248, 74647427], [74650327, 74650522], [74650880, 74651039], [74651189, 74651347], [74652167, 74652273], [74654481, 74654652], [74654994, 74655135], [74655222, 74655381], [74655809, 74655964], [74656112, 74657926]] [[74638430, 74638595], [74639677, 74639789], [74640069, 74640157], [74641398, 74641483], [74643028, 74643134], [74645866, 74645973], [74646082, 74646199], [74646613, 74646774], [74646892, 74647140], [74647248, 74647427], [74650327, 74650522], [74650880, 74651039], [74651189, 74651347], [74652167, 74652273], [74654481, 74654652], [74654994, 74655135], [74655222, 74655381], [74655809, 74655964], [74656112, 74656167]]
Promoter
Chrom Start End Description
chr5 74632334 74632364 CAGE_peak_4_at_HMGCR_5end
chr5 74633017 74633028 CAGE_peak_3_at_HMGCR_5end
chr5 74633036 74633085 CAGE_peak_1_at_HMGCR_5end
chr5 74633086 74633100 CAGE_peak_2_at_HMGCR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I075318 75318934 75322623 1.31 [{'connected_gene': 'GCNT4', 'score': 19.43}, {'connected_gene': 'ENSG00000272040', 'score': 12.82}, {'connected_gene': 'POC5', 'score': 4.7}, {'connected_gene': 'COL4A3BP', 'score': 4.06}, {'connected_gene': 'HMGCR', 'score': 0.37}, {'connected_gene': 'ENSG00000247372', 'score': 0.37}, {'connected_gene': 'GC05M075287', 'score': 0.29}]
chr5 GH05I075335 75335057 75342822 2.1 [{'connected_gene': 'HMGCR', 'score': 550.77}, {'connected_gene': 'POC5', 'score': 13.4}, {'connected_gene': 'RAP1BL', 'score': 11.81}, {'connected_gene': 'RPS26P26', 'score': 10.99}, {'connected_gene': 'ANKDD1B', 'score': 9.35}, {'connected_gene': 'GCNT4', 'score': 6.89}, {'connected_gene': 'POLK', 'score': 5.73}, {'connected_gene': 'ENSG00000247372', 'score': 0.77}, {'connected_gene': 'GC05P075337', 'score': 0.77}, {'connected_gene': 'ENSG00000271815', 'score': 0.34}]
chr5 GH05I075331 75331636 75331785 0.69 [{'connected_gene': 'HMGCR', 'score': 0.77}, {'connected_gene': 'ENSG00000247372', 'score': 0.44}, {'connected_gene': 'GC05M075287', 'score': 0.26}]
chr5 GH05I075358 75358676 75359464 0.38 [{'connected_gene': 'ENSG00000272040', 'score': 14.35}, {'connected_gene': 'POC5', 'score': 5.0}, {'connected_gene': 'ENSG00000271815', 'score': 0.77}, {'connected_gene': 'HMGCR', 'score': 0.34}, {'connected_gene': 'GC05P075337', 'score': 0.34}]

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