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
ENST00000373100 [[42187607, 42187799], [42193681, 42193926], [42195112, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42214317]] [[42195135, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42213656]]
ENST00000373092 [[42187681, 42187799], [42195112, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42214317]] [[42195135, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42213656]]
ENST00000496343 [[42187681, 42187799], [42195112, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205023], [42208611, 42208701], [42213491, 42214209], [42216284, 42216877]] [[42195135, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205023], [42208611, 42208616]]
ENST00000373077 [[42187693, 42187799], [42195112, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198027, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42214317]] [[42195135, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198027, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42213656]]
ENST00000423407 [[42193874, 42193926], [42195112, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42214236]] [[42195135, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42213656]]
ENST00000341458 [[42194736, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42214317]] [[42194955, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42213656]]
ENST00000426287 [[42194955, 42195010], [42195112, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42214272]] [[42194955, 42195010], [42195112, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42213656]]
ENST00000412111 [[42193867, 42193926], [42195112, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198027, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777]] [[42195135, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198027, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777]]
ENST00000485914 [[42198108, 42198156], [42199256, 42199636]] None
NM_170693 [[42187634, 42187799], [42195112, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42214273]] [[42195135, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42213656]]
NM_001199264 [[42193754, 42193926], [42195112, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42214273]] [[42195135, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42213656]]
NM_016276 [[42194736, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42214273]] [[42194955, 42195171], [42195707, 42195757], [42196304, 42196362], [42196555, 42196639], [42198024, 42198156], [42199256, 42199369], [42199663, 42199700], [42200690, 42200777], [42203548, 42203644], [42204863, 42205019], [42208611, 42208701], [42213491, 42213656]]
Promoter
Chrom Start End Description
chr20 42187622 42187623 CAGE_peak_7_at_SGK2_5end
chr20 42187656 42187673 CAGE_peak_2_at_SGK2_5end
chr20 42187689 42187696 CAGE_peak_6_at_SGK2_5end
chr20 42187700 42187724 CAGE_peak_1_at_SGK2_5end
chr20 42193811 42193831 CAGE_peak_4_at_SGK2_5end
chr20 42193850 42193855 CAGE_peak_5_at_SGK2_5end
chr20 42193856 42193884 CAGE_peak_3_at_SGK2_5end