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
ENST00000396213 [[18477370, 18477625], [18478218, 18478353], [18485507, 18485625], [18487183, 18487357], [18497012, 18497186], [18497930, 18498048], [18499166, 18499290], [18500252, 18500870]] [[18478227, 18478353], [18485507, 18485625], [18487183, 18487357], [18497012, 18497186], [18497930, 18498048], [18499166, 18499290], [18500252, 18500417]]
ENST00000280706 [[18477430, 18478353], [18485507, 18485625], [18487183, 18487357], [18497012, 18497186], [18497930, 18498048], [18499166, 18499290], [18500252, 18501147]] [[18478227, 18478353], [18485507, 18485625], [18487183, 18487357], [18497012, 18497186], [18497930, 18498048], [18499166, 18499290], [18500252, 18500417]]
NM_001144071 [[18477373, 18477625], [18478218, 18478353], [18485507, 18485625], [18487183, 18487357], [18497012, 18497186], [18497930, 18498048], [18499166, 18499290], [18500252, 18501147]] [[18478227, 18478353], [18485507, 18485625], [18487183, 18487357], [18497012, 18497186], [18497930, 18498048], [18499166, 18499290], [18500252, 18500417]]
NM_144972 [[18477373, 18478353], [18485507, 18485625], [18487183, 18487357], [18497012, 18497186], [18497930, 18498048], [18499166, 18499290], [18500252, 18501147]] [[18478227, 18478353], [18485507, 18485625], [18487183, 18487357], [18497012, 18497186], [18497930, 18498048], [18499166, 18499290], [18500252, 18500417]]
Promoter
Chrom Start End Description
chr11 18477369 18477415 CAGE_peak_1_at_LDHAL6A_5end
chr11 18477520 18477527 CAGE_peak_3_at_LDHAL6A_5end
chr11 18477548 18477551 CAGE_peak_4_at_LDHAL6A_5end
chr11 18477557 18477566 CAGE_peak_2_at_LDHAL6A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I018382 18382569 18385599 1.62 [{'connected_gene': 'LDHC', 'score': 46.03}, {'connected_gene': 'SPTY2D1', 'score': 17.65}, {'connected_gene': 'SAAL1', 'score': 12.86}, {'connected_gene': 'ENSG00000256361', 'score': 12.77}, {'connected_gene': 'ENSG00000256588', 'score': 12.77}, {'connected_gene': 'TSG101', 'score': 12.33}, {'connected_gene': 'LDHA', 'score': 10.44}, {'connected_gene': 'LDHAL6A', 'score': 5.76}, {'connected_gene': 'HPS5', 'score': 2.6}, {'connected_gene': 'MIR3159', 'score': 0.77}, {'connected_gene': 'GC11P018375', 'score': 0.44}]
chr11 GH11I018457 18457534 18457723 0.69 [{'connected_gene': 'LDHAL6A', 'score': 559.74}, {'connected_gene': 'YWHABP2', 'score': 0.29}]