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
ENST00000569610 [[77224731, 77224831], [77225372, 77225530], [77227347, 77227674], [77228231, 77228257]] [[77225382, 77225530], [77227347, 77227674], [77228231, 77228257]]
ENST00000248248 [[77224815, 77225155], [77225372, 77225530], [77227347, 77227674], [77228231, 77229051], [77229431, 77229579], [77232004, 77236302]] [[77225382, 77225530], [77227347, 77227674], [77228231, 77229051], [77229431, 77229579], [77232004, 77232205]]
ENST00000567291 [[77224823, 77225157], [77225372, 77225530], [77227347, 77227674], [77228231, 77228522]] [[77225382, 77225530], [77227347, 77227674], [77228231, 77228522]]
ENST00000320859 [[77224835, 77225155], [77225372, 77225530], [77227347, 77227528], [77229474, 77229583]] [[77225382, 77225530], [77227347, 77227528], [77229474, 77229583]]
ENST00000563612 [[77224837, 77225530], [77227347, 77227531]] [[77225382, 77225530], [77227347, 77227531]]
ENST00000563279 [[77224859, 77225121], [77225372, 77225530], [77227347, 77227503]] [[77225382, 77225530], [77227347, 77227503]]
ENST00000566963 [[77224894, 77225155], [77225372, 77225530], [77227347, 77227843]] None
ENST00000564006 [[77224927, 77225155], [77225372, 77225530], [77227333, 77227674], [77228231, 77228452]] [[77225382, 77225530], [77227333, 77227545]]
ENST00000439557 [[77225088, 77225155], [77225372, 77225530], [77228231, 77229051], [77229431, 77229579], [77232004, 77232570]] [[77225382, 77225530], [77228231, 77229051], [77229431, 77229579], [77232004, 77232205]]
ENST00000545553 [[77225096, 77225155], [77228231, 77229051], [77229431, 77229579], [77232004, 77232791]] [[77225118, 77225155], [77228231, 77229051], [77229431, 77229579], [77232004, 77232205]]
ENST00000566455 [[77227864, 77229051], [77229431, 77229579], [77232004, 77233533]] None
NM_001286640 [[77224815, 77225155], [77228231, 77229051], [77229431, 77229579], [77232004, 77233543]] [[77225118, 77225155], [77228231, 77229051], [77229431, 77229579], [77232004, 77232205]]
NM_001286639 [[77224815, 77225155], [77225372, 77225530], [77228231, 77229051], [77229431, 77229579], [77232004, 77233543]] [[77225382, 77225530], [77228231, 77229051], [77229431, 77229579], [77232004, 77232205]]
NM_014940 [[77224815, 77225155], [77225372, 77225530], [77227347, 77227674], [77228231, 77229051], [77229431, 77229579], [77232004, 77233543]] [[77225382, 77225530], [77227347, 77227674], [77228231, 77229051], [77229431, 77229579], [77232004, 77232205]]
Promoter
Chrom Start End Description
chr16 77224792 77224887 CAGE_peak_2_at_MON1B_5end
chr16 77224888 77224912 CAGE_peak_3_at_MON1B_5end
chr16 77225071 77225120 CAGE_peak_1_at_MON1B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I077422 77422583 77428829 0.54 [{'connected_gene': 'MON1B', 'score': 5.77}, {'connected_gene': 'ADAMTS18', 'score': 5.42}, {'connected_gene': 'SYCE1L', 'score': 4.28}, {'connected_gene': 'ENSG00000260701', 'score': 0.44}, {'connected_gene': 'ENSG00000261063', 'score': 0.1}]
chr16 GH16I077190 77190000 77192725 2.05 [{'connected_gene': 'MON1B', 'score': 562.22}, {'connected_gene': 'SYCE1L', 'score': 43.32}, {'connected_gene': 'PIR54148', 'score': 0.77}, {'connected_gene': 'GC16P077193', 'score': 0.77}]
chr16 GH16I077166 77165070 77165739 0.2 [{'connected_gene': 'MON1B', 'score': 11.61}, {'connected_gene': 'SYCE1L', 'score': 11.59}, {'connected_gene': 'ENSG00000279856', 'score': 0.21}]
chr16 GH16I077165 77165944 77166093 0.2 [{'connected_gene': 'MON1B', 'score': 0.34}, {'connected_gene': 'ENSG00000279856', 'score': 0.21}]
chr16 GH16I077287 77287745 77291122 1.28 [{'connected_gene': 'SYCE1L', 'score': 16.11}, {'connected_gene': 'ENSG00000260922', 'score': 9.69}, {'connected_gene': 'MON1B', 'score': 7.5}, {'connected_gene': 'ADAMTS18', 'score': 5.67}, {'connected_gene': 'ENSG00000261063', 'score': 0.28}, {'connected_gene': 'ENSG00000260701', 'score': 0.11}]
chr16 GH16I077281 77281365 77284020 0.46 [{'connected_gene': 'SYCE1L', 'score': 18.38}, {'connected_gene': 'ENSG00000260922', 'score': 9.63}, {'connected_gene': 'MON1B', 'score': 7.54}, {'connected_gene': 'ADAMTS18', 'score': 5.49}, {'connected_gene': 'ENSG00000261063', 'score': 0.29}, {'connected_gene': 'ENSG00000260701', 'score': 0.1}]
chr16 GH16I077211 77211744 77214645 1.44 [{'connected_gene': 'SYCE1L', 'score': 65.82}, {'connected_gene': 'MON1B', 'score': 17.89}, {'connected_gene': 'VN2R10P', 'score': 15.2}, {'connected_gene': 'ENSG00000261707', 'score': 14.18}, {'connected_gene': 'ENSG00000261063', 'score': 0.28}]
chr16 GH16I077199 77199409 77199468 0.5 [{'connected_gene': 'SYCE1L', 'score': 603.93}, {'connected_gene': 'MON1B', 'score': 0.44}, {'connected_gene': 'VN2R10P', 'score': 0.34}]
chr16 GH16I077171 77171864 77172013 0.54 [{'connected_gene': 'SYCE1L', 'score': 11.5}, {'connected_gene': 'MON1B', 'score': 0.37}, {'connected_gene': 'ENSG00000279856', 'score': 0.2}]
chr16 GH16I077157 77157292 77158633 0.2 [{'connected_gene': 'SYCE1L', 'score': 6.46}, {'connected_gene': 'MON1B', 'score': 0.29}, {'connected_gene': 'ENSG00000279856', 'score': 0.23}]
chr16 GH16I077183 77183321 77183378 0.34 [{'connected_gene': 'SYCE1L', 'score': 16.38}, {'connected_gene': 'MON1B', 'score': 0.44}, {'connected_gene': 'ENSG00000279856', 'score': 0.18}]
chr16 GH16I077219 77219287 77220061 0.49 [{'connected_gene': 'VN2R10P', 'score': 564.76}, {'connected_gene': 'SYCE1L', 'score': 28.65}, {'connected_gene': 'MON1B', 'score': 12.39}, {'connected_gene': 'ENSG00000261063', 'score': 0.29}]