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
ENST00000302312 [[31539184, 31539283], [31539456, 31539535], [31539778, 31540124]] [[31539460, 31539535], [31539778, 31540012]]
ENST00000569954 [[31539234, 31539252], [31539508, 31539535], [31539778, 31540124]] None
ENST00000564707 [[31539297, 31539335], [31539456, 31539535], [31539778, 31539874]] [[31539460, 31539535], [31539778, 31539874]]
NM_001318221 [[31539172, 31539283], [31539460, 31539535], [31539778, 31540125]] [[31539460, 31539535], [31539778, 31540012]]
NM_016633 [[31539172, 31539283], [31539456, 31539535], [31539778, 31540125]] [[31539460, 31539535], [31539778, 31540012]]
NM_001318222 [[31539297, 31539335], [31539456, 31539535], [31539778, 31540125]] [[31539460, 31539535], [31539778, 31540012]]
Promoter
Chrom Start End Description
chr16 31539183 31539194 CAGE_peak_2_at_AHSP_5end
chr16 31539197 31539245 CAGE_peak_1_at_AHSP_5end
chr16 31539446 31539459 CAGE_peak_3_at_AHSP_5end
chr16 31539534 31539538 CAGE_peak_4_at_AHSP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I031535 31535615 31536223 0.76 [{'connected_gene': 'C16orf58', 'score': 12.59}, {'connected_gene': 'ENSG00000260740', 'score': 11.44}, {'connected_gene': 'PRR14', 'score': 10.47}, {'connected_gene': 'GC16P031542', 'score': 0.44}, {'connected_gene': 'AHSP', 'score': 0.44}, {'connected_gene': 'GC16P031521', 'score': 0.39}]
chr16 GH16I031537 31537105 31538042 0.38 [{'connected_gene': 'C16orf58', 'score': 12.59}, {'connected_gene': 'LINC02190', 'score': 6.11}, {'connected_gene': 'ENSG00000260740', 'score': 5.67}, {'connected_gene': 'ENSG00000260304', 'score': 3.89}, {'connected_gene': 'GC16P031542', 'score': 0.44}, {'connected_gene': 'AHSP', 'score': 0.44}]
chr16 GH16I031527 31527530 31530079 1.69 [{'connected_gene': 'AHSP', 'score': 550.77}, {'connected_gene': 'ENSG00000260740', 'score': 12.51}, {'connected_gene': 'LINC02190', 'score': 5.44}, {'connected_gene': 'GC16P031521', 'score': 0.44}, {'connected_gene': 'GC16P031542', 'score': 0.39}]