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
ENST00000381269 [[70510933, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70522512, 70522530], [70527552, 70527656], [70633355, 70635201], [70655095, 70655787]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70522512, 70522530], [70527552, 70527656], [70633355, 70635139]]
ENST00000356921 [[70510933, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70527552, 70527656], [70633355, 70635201], [70655095, 70655787]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70527552, 70527656], [70633355, 70635139]]
ENST00000357887 [[70510933, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518822], [70522512, 70522530], [70530539, 70530646], [70633355, 70635201], [70655095, 70655787]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518822], [70522512, 70522530], [70530539, 70530646], [70633355, 70635139]]
ENST00000494208 [[70510933, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70633355, 70635201], [70655095, 70655787]] [[70518752, 70518831], [70633355, 70635139]]
ENST00000216568 [[70510971, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70527552, 70527656], [70546681, 70546923]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70527552, 70527571]]
ENST00000394330 [[70511135, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70546681, 70546897]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518808]]
ENST00000528359 [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518822], [70522512, 70522530], [70530539, 70530646], [70633355, 70635201]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518822], [70522512, 70522530], [70530539, 70530646], [70633355, 70635139]]
ENST00000534137 [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518822], [70522512, 70522530], [70527552, 70527656], [70633355, 70635201]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518822], [70522512, 70522530], [70527552, 70527656], [70633355, 70635139]]
ENST00000533541 [[70512791, 70515759], [70517724, 70517824], [70518706, 70518831], [70546681, 70546897]] [[70515328, 70515759], [70517724, 70517824], [70518706, 70518808]]
ENST00000533899 [[70525822, 70526158], [70526904, 70526952], [70527552, 70527656]] None
NM_001130417 [[70510933, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70527552, 70527656], [70546681, 70546934]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70527552, 70527571]]
NM_182936 [[70510933, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70546681, 70546934]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518808]]
NM_033262 [[70510933, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518822], [70522512, 70522530], [70530539, 70530646], [70633355, 70635201], [70655095, 70655787]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518822], [70522512, 70522530], [70530539, 70530646], [70633355, 70635139]]
NM_183002 [[70510933, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70522512, 70522530], [70527552, 70527656], [70633355, 70635201], [70655095, 70655787]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70522512, 70522530], [70527552, 70527656], [70633355, 70635139]]
NM_058240 [[70510933, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518822], [70522512, 70522530], [70527552, 70527656], [70633355, 70635201], [70655095, 70655787]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518822], [70522512, 70522530], [70527552, 70527656], [70633355, 70635139]]
NM_182932 [[70510933, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70527552, 70527656], [70633355, 70635201], [70655095, 70655787]] [[70512663, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70527552, 70527656], [70633355, 70635139]]
NR_104122 [[70510933, 70513040], [70515483, 70515759], [70517724, 70517824], [70518706, 70518831], [70633355, 70635201], [70655095, 70655787]] None
Promoter
Chrom Start End Description
chr14 70546905 70546935 CAGE_peak_3_at_SLC8A3_5end
chr14 70655309 70655322 CAGE_peak_5_at_SLC8A3_5end
chr14 70655325 70655334 CAGE_peak_7_at_SLC8A3_5end
chr14 70655625 70655644 CAGE_peak_4_at_SLC8A3_5end
chr14 70655655 70655683 CAGE_peak_1_at_SLC8A3_5end
chr14 70655684 70655706 CAGE_peak_2_at_SLC8A3_5end
chr14 70656111 70656132 CAGE_peak_6_at_SLC8A3_5end
chr14 70656139 70656147 CAGE_peak_9_at_SLC8A3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I069692 69692002 69704247 1.72 [{'connected_gene': 'SUSD6', 'score': 28.85}, {'connected_gene': 'SRSF5', 'score': 19.53}, {'connected_gene': 'TTC9', 'score': 4.79}, {'connected_gene': 'SLC8A3', 'score': 2.72}, {'connected_gene': 'PIR54293', 'score': 0.39}, {'connected_gene': 'GC14P069678', 'score': 0.34}]
chr14 GH14I070121 70121624 70121813 0.38 [{'connected_gene': 'SLC8A3', 'score': 11.13}, {'connected_gene': 'GC14M070128', 'score': 0.23}, {'connected_gene': 'GC14M070040', 'score': 0.18}]
chr14 GH14I070122 70121401 70121533 0.2 [{'connected_gene': 'SLC8A3', 'score': 11.13}, {'connected_gene': 'GC14M070128', 'score': 0.23}, {'connected_gene': 'GC14M070040', 'score': 0.18}]
chr14 GH14I070223 70223201 70223801 1.05 [{'connected_gene': 'SLC8A3', 'score': 550.77}, {'connected_gene': 'GC14M070223', 'score': 550.77}, {'connected_gene': 'ENSG00000258422', 'score': 9.41}, {'connected_gene': 'GC14M070196', 'score': 0.39}]
chr14 GH14I070080 70080185 70080244 0.68 [{'connected_gene': 'SLC8A3', 'score': 550.11}, {'connected_gene': 'GC14M070040', 'score': 0.28}, {'connected_gene': 'GC14M070128', 'score': 0.15}]
chr14 GH14I070061 70061189 70061448 0.52 [{'connected_gene': 'SRSF5', 'score': 12.86}, {'connected_gene': 'GC14M070040', 'score': 0.37}, {'connected_gene': 'GC14M070128', 'score': 0.14}, {'connected_gene': 'SLC8A3', 'score': 0.1}]
chr14 GH14I070004 70004722 70006182 1.11 [{'connected_gene': 'SMOC1', 'score': 13.15}, {'connected_gene': 'SLC8A3', 'score': 10.11}, {'connected_gene': 'GC14M069988', 'score': 0.39}, {'connected_gene': 'GC14M070040', 'score': 0.28}]
chr14 GH14I070048 70048004 70048233 0.76 [{'connected_gene': 'SMOC1', 'score': 5.18}, {'connected_gene': 'GC14M070040', 'score': 0.44}, {'connected_gene': 'GC14M070128', 'score': 0.13}, {'connected_gene': 'SLC8A3', 'score': 0.1}]
chr14 GH14I070390 70390826 70392834 0.2 [{'connected_gene': 'SYNJ2BP', 'score': 12.38}, {'connected_gene': 'RNU2-51P', 'score': 10.74}, {'connected_gene': 'COX16', 'score': 10.74}, {'connected_gene': 'SLC8A3', 'score': 5.25}, {'connected_gene': 'MED6', 'score': 4.32}, {'connected_gene': 'GC14P070399', 'score': 0.44}, {'connected_gene': 'GC14M070313', 'score': 0.37}, {'connected_gene': 'SYNJ2BP-COX16', 'score': 0.31}]
chr14 GH14I070471 70471284 70471533 0.2 [{'connected_gene': 'COX16', 'score': 18.07}, {'connected_gene': 'SYNJ2BP', 'score': 11.61}, {'connected_gene': 'RNU2-51P', 'score': 10.12}, {'connected_gene': 'SLC8A3', 'score': 4.92}, {'connected_gene': 'MED6', 'score': 4.82}, {'connected_gene': 'ADAM20P1', 'score': 0.39}, {'connected_gene': 'ADAM21', 'score': 0.37}, {'connected_gene': 'LOC105370555', 'score': 0.18}]
chr14 GH14I070317 70317399 70319053 0.93 [{'connected_gene': 'COX16', 'score': 27.97}, {'connected_gene': 'RNU2-51P', 'score': 11.22}, {'connected_gene': 'SLC8A3', 'score': 5.5}, {'connected_gene': 'ADAM20P1', 'score': 5.38}, {'connected_gene': 'ADAM21', 'score': 5.05}, {'connected_gene': 'PIR53064', 'score': 0.29}, {'connected_gene': 'GC14M070313', 'score': 0.22}, {'connected_gene': 'LOC105370552', 'score': 0.21}]
chr14 GH14I070358 70358400 70360400 2.14 [{'connected_gene': 'COX16', 'score': 570.72}, {'connected_gene': 'RNU2-51P', 'score': 550.77}, {'connected_gene': 'GC14P070361', 'score': 550.77}, {'connected_gene': 'SRSF5', 'score': 113.42}, {'connected_gene': 'MED6', 'score': 38.2}, {'connected_gene': 'SUSD6', 'score': 28.57}, {'connected_gene': 'RPL7AP6', 'score': 20.47}, {'connected_gene': 'ADAM20P1', 'score': 19.59}, {'connected_gene': 'PTTG4P', 'score': 11.18}, {'connected_gene': 'ERH', 'score': 10.02}, {'connected_gene': 'SLC8A3', 'score': 5.66}, {'connected_gene': 'PIR53064', 'score': 0.39}, {'connected_gene': 'GC14M070313', 'score': 0.37}, {'connected_gene': 'SYNJ2BP-COX16', 'score': 0.22}]
chr14 GH14I070422 70422263 70423183 0.2 [{'connected_gene': 'ADAM21P1', 'score': 6.37}, {'connected_gene': 'SLC8A3', 'score': 5.12}, {'connected_gene': 'SYNJ2BP-COX16', 'score': 0.44}, {'connected_gene': 'SYNJ2BP', 'score': 0.44}, {'connected_gene': 'GC14P070437', 'score': 0.39}, {'connected_gene': 'LOC105370555', 'score': 0.13}]
chr14 GH14I070378 70378244 70383705 0.54 [{'connected_gene': 'ADAM21P1', 'score': 22.05}, {'connected_gene': 'COX16', 'score': 20.21}, {'connected_gene': 'SLC8A3', 'score': 5.44}, {'connected_gene': 'SYNJ2BP', 'score': 5.23}, {'connected_gene': 'GC14M070313', 'score': 0.44}, {'connected_gene': 'GC14P070399', 'score': 0.37}, {'connected_gene': 'SYNJ2BP-COX16', 'score': 0.28}]
chr14 GH14I070254 70254401 70255873 1.04 [{'connected_gene': 'LOC101928046', 'score': 550.77}, {'connected_gene': 'COX16', 'score': 21.24}, {'connected_gene': 'SRSF5', 'score': 12.42}, {'connected_gene': 'SLC8A3', 'score': 12.13}, {'connected_gene': 'RNU2-51P', 'score': 9.59}, {'connected_gene': 'ADAM20', 'score': 5.43}, {'connected_gene': 'ENSG00000258422', 'score': 4.74}, {'connected_gene': 'LOC105370552', 'score': 0.77}, {'connected_gene': 'ADAM21P1', 'score': 0.44}]
chr14 GH14I070416 70416000 70417693 1.93 [{'connected_gene': 'SYNJ2BP-COX16', 'score': 550.77}, {'connected_gene': 'SYNJ2BP', 'score': 550.77}, {'connected_gene': 'ADAM21P1', 'score': 21.83}, {'connected_gene': 'SLC8A3', 'score': 5.23}, {'connected_gene': 'GC14P070399', 'score': 0.37}, {'connected_gene': 'LOC105370555', 'score': 0.12}]
chr14 GH14I070186 70186062 70190613 1.79 [{'connected_gene': 'ENSG00000258422', 'score': 556.27}, {'connected_gene': 'SLC8A3', 'score': 554.83}, {'connected_gene': 'COX16', 'score': 11.46}, {'connected_gene': 'GC14M070196', 'score': 0.34}]
chr14 GH14I070046 70046124 70046293 0.91 [{'connected_gene': 'GC14M070040', 'score': 0.77}, {'connected_gene': 'GC14M070128', 'score': 0.13}, {'connected_gene': 'SLC8A3', 'score': 0.1}]
chr14 GH14I070088 70088335 70088719 0.22 [{'connected_gene': 'GC14M070040', 'score': 0.25}, {'connected_gene': 'GC14M070128', 'score': 0.17}, {'connected_gene': 'SLC8A3', 'score': 0.12}]

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