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
ENST00000446050 [[167453217, 167453611], [167506898, 167507166], [167508159, 167508390], [167510377, 167510572], [167512407, 167512612], [167525031, 167525129], [167540773, 167540860], [167542260, 167542350], [167543034, 167543356]] [[167506916, 167507166], [167508159, 167508390], [167510377, 167510572], [167512407, 167512612], [167525031, 167525129], [167540773, 167540860], [167542260, 167542350], [167543034, 167543111]]
ENST00000295777 [[167453510, 167453923], [167506898, 167507166], [167508159, 167508390], [167510377, 167510572], [167512407, 167512612], [167525031, 167525129], [167540773, 167540860], [167542260, 167542350], [167543034, 167543354]] [[167506916, 167507166], [167508159, 167508390], [167510377, 167510572], [167512407, 167512612], [167525031, 167525129], [167540773, 167540860], [167542260, 167542350], [167543034, 167543111]]
ENST00000472747 [[167453512, 167453600], [167506898, 167507166], [167508159, 167508390], [167510377, 167510572], [167512407, 167512467]] [[167506916, 167507166], [167508159, 167508390], [167510377, 167510572], [167512407, 167512467]]
ENST00000472941 [[167453030, 167453113], [167506898, 167507166], [167508159, 167508390]] [[167506916, 167507166], [167508159, 167508390]]
ENST00000488374 [[167517833, 167517910], [167525031, 167525129], [167540773, 167540860], [167542260, 167542350], [167543034, 167543350]] None
ENST00000466865 [[167525025, 167525129], [167540773, 167540860], [167542260, 167542350], [167543034, 167543348]] [[167525025, 167525129], [167540773, 167540860], [167542260, 167542350], [167543034, 167543111]]
ENST00000494666 [[167540723, 167540860], [167542260, 167542350], [167543034, 167543348]] None
NM_001122752 [[167453431, 167453611], [167506898, 167507166], [167508159, 167508390], [167510377, 167510572], [167512407, 167512612], [167525031, 167525129], [167540773, 167540860], [167542260, 167542350], [167543034, 167543357]] [[167506916, 167507166], [167508159, 167508390], [167510377, 167510572], [167512407, 167512612], [167525031, 167525129], [167540773, 167540860], [167542260, 167542350], [167543034, 167543111]]
NM_005025 [[167453510, 167453923], [167506898, 167507166], [167508159, 167508390], [167510377, 167510572], [167512407, 167512612], [167525031, 167525129], [167540773, 167540860], [167542260, 167542350], [167543034, 167543357]] [[167506916, 167507166], [167508159, 167508390], [167510377, 167510572], [167512407, 167512612], [167525031, 167525129], [167540773, 167540860], [167542260, 167542350], [167543034, 167543111]]
Promoter
Chrom Start End Description
chr3 167452852 167452864 CAGE_peak_6_at_SERPINI1_5end
chr3 167452969 167453019 CAGE_peak_2_at_SERPINI1_5end
chr3 167453026 167453051 CAGE_peak_4_at_SERPINI1_5end
chr3 167453462 167453471 CAGE_peak_5_at_SERPINI1_5end
chr3 167453476 167453487 CAGE_peak_3_at_SERPINI1_5end
chr3 167453493 167453533 CAGE_peak_1_at_SERPINI1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I167882 167882001 167882200 0.59 [{'connected_gene': 'LRRC77P', 'score': 28.24}, {'connected_gene': 'SERPINI1', 'score': 10.46}, {'connected_gene': 'PDCD10', 'score': 10.46}, {'connected_gene': 'MEMO1P3', 'score': 0.44}, {'connected_gene': 'ENSG00000244706', 'score': 0.39}]
chr3 GH03I167814 167814473 167814662 0.57 [{'connected_gene': 'LRRC77P', 'score': 0.23}, {'connected_gene': 'SERPINI1', 'score': 0.18}, {'connected_gene': 'PDCD10', 'score': 0.18}]
chr3 GH03I167815 167814693 167815001 0.74 [{'connected_gene': 'LRRC77P', 'score': 0.25}, {'connected_gene': 'SERPINI1', 'score': 0.18}, {'connected_gene': 'PDCD10', 'score': 0.18}]
chr3 GH03I167816 167813213 167813362 0.72 [{'connected_gene': 'LRRC77P', 'score': 0.23}, {'connected_gene': 'SERPINI1', 'score': 0.18}, {'connected_gene': 'PDCD10', 'score': 0.18}]
chr3 GH03I167813 167813844 167814071 0.2 [{'connected_gene': 'SERPINI1', 'score': 4.53}, {'connected_gene': 'LRRC77P', 'score': 0.23}, {'connected_gene': 'PDCD10', 'score': 0.18}]
chr3 GH03I167684 167684513 167684662 0.6 [{'connected_gene': 'SERPINI1', 'score': 17.08}, {'connected_gene': 'WDR49', 'score': 11.6}, {'connected_gene': 'PDCD10', 'score': 11.13}, {'connected_gene': 'ZBBX', 'score': 10.83}, {'connected_gene': 'HMGN1P8', 'score': 0.39}, {'connected_gene': 'GC03P167665', 'score': 0.37}]
chr3 GH03I167650 167650601 167651200 0.2 [{'connected_gene': 'SERPINI1', 'score': 6.8}, {'connected_gene': 'WDR49', 'score': 0.77}, {'connected_gene': 'GC03M167593', 'score': 0.22}]
chr3 GH03I167691 167691473 167691642 0.75 [{'connected_gene': 'SERPINI1', 'score': 17.04}, {'connected_gene': 'PDCD10', 'score': 11.41}, {'connected_gene': 'ZBBX', 'score': 9.77}, {'connected_gene': 'HMGN1P8', 'score': 0.77}, {'connected_gene': 'GC03P167665', 'score': 0.31}]
chr3 GH03I167763 167763986 167764145 0.22 [{'connected_gene': 'SERPINI1', 'score': 5.38}, {'connected_gene': 'PDCD10', 'score': 0.31}, {'connected_gene': 'LRRC77P', 'score': 0.15}]
chr3 GH03I167773 167773916 167773975 0.73 [{'connected_gene': 'SERPINI1', 'score': 550.28}, {'connected_gene': 'PDCD10', 'score': 0.28}, {'connected_gene': 'LRRC77P', 'score': 0.16}]
chr3 GH03I167749 167749868 167751326 0.84 [{'connected_gene': 'SERPINI1', 'score': 9.75}, {'connected_gene': 'PDCD10', 'score': 0.37}, {'connected_gene': 'LRRC77P', 'score': 0.14}]
chr3 GH03I167732 167732134 167736877 2.08 [{'connected_gene': 'SERPINI1', 'score': 559.87}, {'connected_gene': 'PDCD10', 'score': 556.65}, {'connected_gene': 'HMGN1P8', 'score': 11.71}]
chr3 GH03I167717 167717073 167717222 0.76 [{'connected_gene': 'SERPINI1', 'score': 0.37}, {'connected_gene': 'PDCD10', 'score': 0.37}, {'connected_gene': 'HMGN1P8', 'score': 0.34}]
chr3 GH03I167456 167456427 167456705 0.22 [{'connected_gene': 'SERPINI1', 'score': 2.59}, {'connected_gene': 'LOC105374197', 'score': 0.39}, {'connected_gene': 'SERPINI2', 'score': 0.34}, {'connected_gene': 'LINC01327', 'score': 0.21}]
chr3 GH03I167683 167683977 167684201 0.58 [{'connected_gene': 'WDR49', 'score': 11.6}, {'connected_gene': 'SERPINI1', 'score': 11.13}, {'connected_gene': 'PDCD10', 'score': 11.13}, {'connected_gene': 'ZBBX', 'score': 10.83}, {'connected_gene': 'HMGN1P8', 'score': 0.39}, {'connected_gene': 'GC03P167665', 'score': 0.37}]