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
ENST00000404666 [[17720392, 17720669], [17773336, 17773503], [17830676, 17830892], [17836463, 17837345]] [[17773341, 17773503], [17830676, 17830892], [17836463, 17836661]]
ENST00000457525 [[17721233, 17721449], [17773336, 17773503], [17830676, 17830869]] [[17773341, 17773503], [17830676, 17830869]]
ENST00000295156 [[17721919, 17722185], [17773336, 17773503], [17830676, 17830892], [17836463, 17837706]] [[17773341, 17773503], [17830676, 17830892], [17836463, 17836661]]
ENST00000451533 [[17721962, 17722185], [17727269, 17727290], [17773336, 17773503], [17830676, 17830827]] [[17773341, 17773503], [17830676, 17830827]]
ENST00000406397 [[17722426, 17722946], [17773336, 17773503], [17830676, 17830892], [17836463, 17838285]] [[17773341, 17773503], [17830676, 17830892], [17836463, 17836661]]
ENST00000483921 [[17721973, 17722185], [17727269, 17727290], [17748646, 17748974]] None
NM_003385 [[17721806, 17722185], [17773336, 17773503], [17830676, 17830892], [17836463, 17837706]] [[17773341, 17773503], [17830676, 17830892], [17836463, 17836661]]
Promoter
Chrom Start End Description
chr2 17721230 17721255 CAGE_peak_4_at_VSNL1_5end
chr2 17721922 17721933 CAGE_peak_3_at_VSNL1_5end
chr2 17721937 17721990 CAGE_peak_1_at_VSNL1_5end
chr2 17722000 17722011 CAGE_peak_2_at_VSNL1_5end
chr2 17773341 17773362 CAGE_peak_6_at_VSNL1_5end
chr2 17773375 17773392 CAGE_peak_9_at_VSNL1_5end
chr2 17773405 17773425 CAGE_peak_8_at_VSNL1_5end
chr2 17773428 17773449 CAGE_peak_7_at_VSNL1_5end
chr2 17773459 17773475 CAGE_peak_5_at_VSNL1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I017537 17537913 17545179 2.6 [{'connected_gene': 'VSNL1', 'score': 558.44}, {'connected_gene': 'RAD51AP2', 'score': 16.75}, {'connected_gene': 'GEN1', 'score': 6.71}, {'connected_gene': 'MSGN1', 'score': 2.18}, {'connected_gene': 'GC02M017549', 'score': 0.44}]
chr2 GH02I017609 17609103 17609604 0.2 [{'connected_gene': 'VSNL1', 'score': 10.64}, {'connected_gene': 'GEN1', 'score': 9.85}, {'connected_gene': 'SMC6', 'score': 4.5}, {'connected_gene': 'PIR36041', 'score': 0.44}, {'connected_gene': 'GC02M017549', 'score': 0.22}]
chr2 GH02I017584 17584178 17585987 0.54 [{'connected_gene': 'VSNL1', 'score': 11.19}, {'connected_gene': 'GEN1', 'score': 8.1}, {'connected_gene': 'RAD51AP2', 'score': 5.29}, {'connected_gene': 'PIR36041', 'score': 0.29}, {'connected_gene': 'GC02M017549', 'score': 0.29}]
chr2 GH02I017386 17386664 17389311 0.2 [{'connected_gene': 'VSNL1', 'score': 7.2}, {'connected_gene': 'GEN1', 'score': 4.55}, {'connected_gene': 'PSMC1P10', 'score': 0.77}, {'connected_gene': 'LOC105373447', 'score': 0.39}, {'connected_gene': 'GC02P017432', 'score': 0.26}]
chr2 GH02I017427 17427953 17429896 0.31 [{'connected_gene': 'VSNL1', 'score': 10.22}, {'connected_gene': 'GEN1', 'score': 7.09}, {'connected_gene': 'GC02P017432', 'score': 0.77}, {'connected_gene': 'PSMC1P10', 'score': 0.26}]
chr2 GH02I017587 17587526 17595519 1.61 [{'connected_gene': 'VSNL1', 'score': 17.94}, {'connected_gene': 'GEN1', 'score': 9.15}, {'connected_gene': 'MSGN1', 'score': 2.48}, {'connected_gene': 'PIR36041', 'score': 0.34}, {'connected_gene': 'GC02M017549', 'score': 0.26}]
chr2 GH02I017506 17506751 17507483 0.54 [{'connected_gene': 'VSNL1', 'score': 11.51}, {'connected_gene': 'GEN1', 'score': 7.13}, {'connected_gene': 'LOC101928149', 'score': 0.44}, {'connected_gene': 'GC02P017464', 'score': 0.26}]
chr2 GH02I017578 17578113 17580703 1.56 [{'connected_gene': 'VSNL1', 'score': 566.78}, {'connected_gene': 'GEN1', 'score': 5.84}, {'connected_gene': 'GC02M017549', 'score': 0.31}, {'connected_gene': 'PIR36041', 'score': 0.28}]
chr2 GH02I017577 17577491 17577977 0.31 [{'connected_gene': 'VSNL1', 'score': 10.86}, {'connected_gene': 'GEN1', 'score': 5.85}, {'connected_gene': 'GC02M017549', 'score': 0.31}, {'connected_gene': 'PIR36041', 'score': 0.28}]
chr2 GH02I017603 17603750 17604672 0.38 [{'connected_gene': 'VSNL1', 'score': 10.65}, {'connected_gene': 'GEN1', 'score': 6.31}, {'connected_gene': 'PIR36041', 'score': 0.39}, {'connected_gene': 'GC02M017549', 'score': 0.23}]
chr2 GH02I017581 17581639 17582527 0.31 [{'connected_gene': 'VSNL1', 'score': 11.42}, {'connected_gene': 'GEN1', 'score': 5.84}, {'connected_gene': 'PIR36041', 'score': 0.29}, {'connected_gene': 'GC02M017549', 'score': 0.29}]
chr2 GH02I017573 17573552 17574330 0.43 [{'connected_gene': 'VSNL1', 'score': 10.84}, {'connected_gene': 'GEN1', 'score': 6.36}, {'connected_gene': 'GC02M017549', 'score': 0.34}, {'connected_gene': 'PIR36041', 'score': 0.26}]
chr2 GH02I017619 17619649 17622252 0.74 [{'connected_gene': 'VSNL1', 'score': 15.35}, {'connected_gene': 'GEN1', 'score': 9.41}, {'connected_gene': 'PIR36041', 'score': 0.77}]
chr2 GH02I017628 17628528 17629396 0.38 [{'connected_gene': 'VSNL1', 'score': 15.7}, {'connected_gene': 'GEN1', 'score': 9.7}, {'connected_gene': 'PIR36041', 'score': 0.39}]
chr2 GH02I017352 17352681 17354342 0.31 [{'connected_gene': 'VSNL1', 'score': 4.81}, {'connected_gene': 'PIR41459', 'score': 0.44}, {'connected_gene': 'LOC105373447', 'score': 0.34}]
chr2 GH02I017599 17599714 17599863 0.51 [{'connected_gene': 'VSNL1', 'score': 9.6}, {'connected_gene': 'PIR36041', 'score': 0.37}, {'connected_gene': 'GC02M017549', 'score': 0.25}]
chr2 GH02I017642 17642590 17646632 1.18 [{'connected_gene': 'GEN1', 'score': 14.65}, {'connected_gene': 'VSNL1', 'score': 10.27}, {'connected_gene': 'SMC6', 'score': 10.07}, {'connected_gene': 'PIR36041', 'score': 0.31}]
chr2 GH02I017803 17803706 17805390 1.09 [{'connected_gene': 'GEN1', 'score': 27.83}, {'connected_gene': 'VSNL1', 'score': 5.06}, {'connected_gene': 'LOC105373449', 'score': 0.77}, {'connected_gene': 'MSGN1', 'score': 0.39}]
chr2 GH02I017557 17557040 17558282 0.6 [{'connected_gene': 'GEN1', 'score': 6.57}, {'connected_gene': 'VSNL1', 'score': 6.34}, {'connected_gene': 'GC02M017549', 'score': 0.44}, {'connected_gene': 'PIR36041', 'score': 0.22}]
chr2 GH02I017635 17635154 17635303 0.31 [{'connected_gene': 'PIR36041', 'score': 0.37}, {'connected_gene': 'VSNL1', 'score': 0.15}, {'connected_gene': 'GEN1', 'score': 0.13}]
chr2 GH02I017615 17615446 17616897 0.69 [{'connected_gene': 'PIR36041', 'score': 550.77}, {'connected_gene': 'VSNL1', 'score': 10.4}, {'connected_gene': 'GC02M017549', 'score': 0.21}]