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
ENST00000542672 [[236849753, 236850099], [236881157, 236881272], [236882193, 236882313], [236883404, 236883491], [236889232, 236889320], [236890977, 236891056], [236894532, 236894614], [236897732, 236897818], [236900421, 236900514], [236902601, 236902832], [236906195, 236906343], [236907925, 236908076], [236910966, 236911075], [236912423, 236912564], [236914769, 236914952], [236917246, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236925919]] [[236849973, 236850099], [236881157, 236881272], [236882193, 236882313], [236883404, 236883491], [236889232, 236889320], [236890977, 236891056], [236894532, 236894614], [236897732, 236897818], [236900421, 236900514], [236902601, 236902832], [236906195, 236906343], [236907925, 236908076], [236910966, 236911075], [236912423, 236912564], [236914769, 236914952], [236917246, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236925919]]
ENST00000366578 [[236849807, 236850099], [236881157, 236881272], [236882193, 236882313], [236883404, 236883491], [236889232, 236889320], [236890977, 236891056], [236894532, 236894614], [236898934, 236899020], [236900421, 236900514], [236902601, 236902832], [236906195, 236906343], [236907925, 236908076], [236910966, 236911075], [236912423, 236912564], [236914769, 236914952], [236917246, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236927931]] [[236849973, 236850099], [236881157, 236881272], [236882193, 236882313], [236883404, 236883491], [236889232, 236889320], [236890977, 236891056], [236894532, 236894614], [236898934, 236899020], [236900421, 236900514], [236902601, 236902832], [236906195, 236906343], [236907925, 236908076], [236910966, 236911075], [236912423, 236912564], [236914769, 236914952], [236917246, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236925919]]
ENST00000492634 [[236849826, 236850099], [236881157, 236881272], [236882193, 236882313], [236883404, 236883491], [236889232, 236889320], [236890977, 236891056], [236894532, 236894614], [236897732, 236897818], [236898934, 236899020], [236900421, 236900514], [236902601, 236902832], [236906195, 236906343], [236907925, 236908069]] None
ENST00000546208 [[236894549, 236894614], [236897732, 236897818], [236900421, 236900480], [236906218, 236906343], [236907925, 236908076], [236910966, 236911075], [236912423, 236912564], [236914769, 236914952], [236917246, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236926148]] [[236912426, 236912564], [236914769, 236914952], [236917246, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236925919]]
ENST00000494762 [[236900318, 236900514], [236902601, 236902832], [236906195, 236906221]] None
ENST00000492101 [[236910999, 236911075], [236911175, 236911440]] None
ENST00000461367 [[236917198, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236925866]] None
NM_001103 [[236849753, 236850099], [236881157, 236881272], [236882193, 236882313], [236883404, 236883491], [236889232, 236889320], [236890977, 236891056], [236894532, 236894614], [236898934, 236899020], [236900421, 236900514], [236902601, 236902832], [236906195, 236906343], [236907925, 236908076], [236910966, 236911075], [236912423, 236912564], [236914769, 236914952], [236917246, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236927931]] [[236849973, 236850099], [236881157, 236881272], [236882193, 236882313], [236883404, 236883491], [236889232, 236889320], [236890977, 236891056], [236894532, 236894614], [236898934, 236899020], [236900421, 236900514], [236902601, 236902832], [236906195, 236906343], [236907925, 236908076], [236910966, 236911075], [236912423, 236912564], [236914769, 236914952], [236917246, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236925919]]
NM_001278343 [[236849753, 236850099], [236881157, 236881272], [236882193, 236882313], [236883404, 236883491], [236889232, 236889320], [236890977, 236891056], [236894532, 236894614], [236897732, 236897818], [236900421, 236900514], [236902601, 236902832], [236906195, 236906343], [236907925, 236908076], [236910966, 236911075], [236912423, 236912564], [236914769, 236914952], [236917246, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236927931]] [[236849973, 236850099], [236881157, 236881272], [236882193, 236882313], [236883404, 236883491], [236889232, 236889320], [236890977, 236891056], [236894532, 236894614], [236897732, 236897818], [236900421, 236900514], [236902601, 236902832], [236906195, 236906343], [236907925, 236908076], [236910966, 236911075], [236912423, 236912564], [236914769, 236914952], [236917246, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236925919]]
NM_001278344 [[236849753, 236850099], [236881157, 236881272], [236882193, 236882313], [236883404, 236883491], [236889232, 236889320], [236890977, 236891056], [236894532, 236894614], [236897732, 236897818], [236898934, 236899020], [236899857, 236899968], [236900421, 236900514], [236902601, 236902832], [236906195, 236906343], [236907925, 236908076], [236910966, 236911075], [236912423, 236912564], [236914769, 236914952], [236917246, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236927931]] [[236898972, 236899020], [236899857, 236899968], [236900421, 236900514], [236902601, 236902832], [236906195, 236906343], [236907925, 236908076], [236910966, 236911075], [236912423, 236912564], [236914769, 236914952], [236917246, 236917381], [236918318, 236918498], [236920785, 236920932], [236923023, 236923089], [236924314, 236924473], [236925760, 236925919]]
Promoter
Chrom Start End Description
chr1 236849565 236849623 CAGE_peak_3_at_ACTN2_5end
chr1 236849791 236849806 CAGE_peak_1_at_ACTN2_5end
chr1 236882190 236882202 CAGE_peak_4_at_ACTN2_5end
chr1 236917091 236917110 CAGE_peak_5_at_ACTN2_5end
chr1 236917125 236917203 CAGE_peak_2_at_ACTN2_5end
chr1 236917218 236917230 CAGE_peak_8_at_ACTN2_5end
chr1 236917269 236917280 CAGE_peak_13_at_ACTN2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I236685 236685329 236695042 2.82 [{'connected_gene': 'ACTN2', 'score': 575.73}, {'connected_gene': 'ENSG00000273058', 'score': 82.3}, {'connected_gene': 'ENSG00000230325', 'score': 69.17}, {'connected_gene': 'HEATR1', 'score': 57.99}, {'connected_gene': 'MTR', 'score': 51.97}, {'connected_gene': 'RPL35P1', 'score': 10.35}, {'connected_gene': 'LDHAP2', 'score': 10.01}]
chr1 GH01I236090 236090293 236091688 0.68 [{'connected_gene': 'ACTN2', 'score': 9.32}, {'connected_gene': 'NID1', 'score': 5.71}, {'connected_gene': 'LOC343508', 'score': 0.37}]
chr1 GH01I236861 236861494 236863964 0.86 [{'connected_gene': 'ACTN2', 'score': 10.14}, {'connected_gene': 'MTR', 'score': 8.46}, {'connected_gene': 'GC01P236848', 'score': 0.39}, {'connected_gene': 'GC01P236900', 'score': 0.28}]
chr1 GH01I236746 236746738 236747329 0.4 [{'connected_gene': 'ACTN2', 'score': 10.18}, {'connected_gene': 'MTR', 'score': 0.25}]
chr1 GH01I236715 236715454 236717520 0.51 [{'connected_gene': 'ACTN2', 'score': 11.55}, {'connected_gene': 'MTR', 'score': 10.22}]
chr1 GH01I236704 236704121 236704270 0.4 [{'connected_gene': 'ACTN2', 'score': 0.37}, {'connected_gene': 'MTR', 'score': 0.16}]
chr1 GH01I236706 236706170 236707075 0.2 [{'connected_gene': 'ACTN2', 'score': 20.1}, {'connected_gene': 'MTR', 'score': 0.17}]
chr1 GH01I236726 236726939 236728161 0.43 [{'connected_gene': 'ACTN2', 'score': 10.73}, {'connected_gene': 'MTR', 'score': 0.2}]
chr1 GH01I236760 236760663 236761580 0.6 [{'connected_gene': 'ACTN2', 'score': 10.99}, {'connected_gene': 'MTR', 'score': 0.29}]
chr1 GH01I236725 236725558 236726495 0.31 [{'connected_gene': 'ACTN2', 'score': 10.43}, {'connected_gene': 'MTR', 'score': 0.2}]
chr1 GH01I236734 236734381 236734530 0.51 [{'connected_gene': 'ACTN2', 'score': 10.73}, {'connected_gene': 'MTR', 'score': 10.33}]
chr1 GH01I236728 236728627 236729244 0.2 [{'connected_gene': 'ACTN2', 'score': 17.85}, {'connected_gene': 'ENSG00000230325', 'score': 5.29}, {'connected_gene': 'MTR', 'score': 0.2}]
chr1 GH01I236707 236707642 236709278 0.2 [{'connected_gene': 'ACTN2', 'score': 19.96}, {'connected_gene': 'ENSG00000230325', 'score': 7.53}, {'connected_gene': 'MTR', 'score': 0.17}]
chr1 GH01I236723 236723317 236725380 0.58 [{'connected_gene': 'ACTN2', 'score': 10.43}, {'connected_gene': 'ENSG00000230325', 'score': 4.82}, {'connected_gene': 'MTR', 'score': 0.2}]
chr1 GH01I236717 236717988 236719599 0.2 [{'connected_gene': 'ACTN2', 'score': 11.4}, {'connected_gene': 'ENSG00000230325', 'score': 5.13}, {'connected_gene': 'MTR', 'score': 0.18}]
chr1 GH01I236696 236696869 236697818 0.43 [{'connected_gene': 'ACTN2', 'score': 10.96}, {'connected_gene': 'MTR', 'score': 0.15}]
chr1 GH01I236695 236695412 236695762 0.34 [{'connected_gene': 'ACTN2', 'score': 4.43}, {'connected_gene': 'MTR', 'score': 0.15}]
chr1 GH01I236709 236709344 236709978 0.2 [{'connected_gene': 'ACTN2', 'score': 19.95}, {'connected_gene': 'ENSG00000230325', 'score': 7.34}, {'connected_gene': 'MTR', 'score': 0.18}]
chr1 GH01I236699 236699186 236703433 0.66 [{'connected_gene': 'ACTN2', 'score': 10.35}, {'connected_gene': 'ENSG00000230325', 'score': 8.22}, {'connected_gene': 'MTR', 'score': 0.16}]
chr1 GH01I237139 237139470 237140218 0.2 [{'connected_gene': 'ACTN2', 'score': 5.4}, {'connected_gene': 'RN7SKP195', 'score': 0.37}, {'connected_gene': 'RYR2', 'score': 0.15}, {'connected_gene': 'GC01P237314', 'score': 0.09}]
chr1 GH01I236659 236659381 236660471 0.51 [{'connected_gene': 'ACTN2', 'score': 16.09}, {'connected_gene': 'GC01P236648', 'score': 0.39}]
chr1 GH01I237043 237043285 237043704 1.06 [{'connected_gene': 'RYR2', 'score': 570.44}, {'connected_gene': 'ACTN2', 'score': 4.17}, {'connected_gene': 'PIR33590', 'score': 0.29}]
chr1 GH01I236835 236835014 236836950 1.16 [{'connected_gene': 'MTR', 'score': 561.42}, {'connected_gene': 'ACTN2', 'score': 9.68}, {'connected_gene': 'GC01M236829', 'score': 0.44}, {'connected_gene': 'RPSAP21', 'score': 0.37}]
chr1 GH01I236753 236753641 236753830 0.85 [{'connected_gene': 'MTR', 'score': 11.4}, {'connected_gene': 'ACTN2', 'score': 10.65}]
chr1 GH01I236754 236754121 236754270 0.85 [{'connected_gene': 'MTR', 'score': 11.4}, {'connected_gene': 'ACTN2', 'score': 10.65}]
chr1 GH01I236741 236741791 236743321 0.56 [{'connected_gene': 'MTR', 'score': 0.23}, {'connected_gene': 'ACTN2', 'score': 0.22}]
chr1 GH01I236751 236751151 236752002 0.56 [{'connected_gene': 'MTR', 'score': 11.4}, {'connected_gene': 'ACTN2', 'score': 10.65}]
chr1 GH01I236750 236750224 236750928 0.38 [{'connected_gene': 'MTR', 'score': 11.4}, {'connected_gene': 'ACTN2', 'score': 10.66}]
chr1 GH01I236705 236704285 236705952 0.58 [{'connected_gene': 'ENSG00000230325', 'score': 8.84}, {'connected_gene': 'ACTN2', 'score': 0.37}, {'connected_gene': 'MTR', 'score': 0.17}]
chr1 GH01I236638 236638502 236641244 0.63 [{'connected_gene': 'ENSG00000230325', 'score': 13.38}, {'connected_gene': 'ACTN2', 'score': 5.64}, {'connected_gene': 'GC01P236648', 'score': 0.44}, {'connected_gene': 'GC01M236594', 'score': 0.34}]
chr1 GH01I236843 236843665 236846265 0.89 [{'connected_gene': 'GC01M236829', 'score': 550.77}, {'connected_gene': 'MTR', 'score': 18.51}, {'connected_gene': 'ACTN2', 'score': 9.43}, {'connected_gene': 'RPSAP21', 'score': 0.31}]
chr1 GH01I236672 236672871 236674169 0.43 [{'connected_gene': 'ENSG00000230325', 'score': 9.84}, {'connected_gene': 'LGALS8', 'score': 4.84}, {'connected_gene': 'ACTN2', 'score': 4.82}, {'connected_gene': 'GC01P236648', 'score': 0.34}]

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