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
ENST00000432059 [[147175126, 147177672], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147443116]] [[147177642, 147177672], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147442869]]
ENST00000335472 [[147176083, 147177672], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147363934, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147443085]] [[147177642, 147177672], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147363934, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147442869]]
ENST00000264986 [[147177178, 147177672], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147363934, 147363973], [147425000, 147425076], [147438189, 147438272], [147442769, 147442991]] [[147425001, 147425076], [147438189, 147438272], [147442769, 147442869]]
ENST00000507030 [[147177642, 147177672], [147177977, 147178088], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147363934, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147442869]] [[147178004, 147178088], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147363934, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147442869]]
ENST00000394062 [[147178004, 147178088], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147363934, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147443123]] [[147178004, 147178088], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147363934, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147442869]]
ENST00000507560 [[147247112, 147247148], [147363934, 147363973], [147438189, 147438272], [147442769, 147443025]] None
ENST00000394059 [[147362817, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147443047]] [[147363889, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147442869]]
ENST00000511315 [[147363469, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147442982]] None
ENST00000511374 [[147363476, 147363973], [147425000, 147425076], [147438189, 147438272], [147442769, 147442982]] [[147425001, 147425076], [147438189, 147438272], [147442769, 147442869]]
ENST00000513583 [[147399030, 147399453], [147425000, 147425055]] None
ENST00000502607 [[147435053, 147436303], [147438189, 147438272], [147442769, 147443074]] [[147436291, 147436303], [147438189, 147438272], [147442769, 147442869]]
NM_001300842 [[147175138, 147177672], [147177977, 147178088], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147363934, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147443123]] [[147178004, 147178088], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147363934, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147442869]]
NM_001029998 [[147175138, 147177672], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147363934, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147443123]] [[147177642, 147177672], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147363934, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147442869]]
NR_133924 [[147175138, 147177672], [147179843, 147179989], [147204343, 147204417], [147227077, 147227161], [147247112, 147247148], [147363934, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147443123]] None
NM_001317816 [[147175138, 147177672], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147443123]] [[147177642, 147177672], [147179843, 147179989], [147204343, 147204417], [147214080, 147214132], [147215081, 147215247], [147227077, 147227161], [147247112, 147247148], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147442869]]
NM_032128 [[147362816, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147443123]] [[147363889, 147363973], [147425000, 147425076], [147431064, 147431201], [147438189, 147438272], [147442769, 147442869]]
NM_001317817 [[147362816, 147363973], [147425000, 147425076], [147438189, 147438272], [147442769, 147443123]] [[147425001, 147425076], [147438189, 147438272], [147442769, 147442869]]
NM_001317818 [[147435053, 147436303], [147438189, 147438272], [147442769, 147443123]] [[147436291, 147436303], [147438189, 147438272], [147442769, 147442869]]
Promoter
Chrom Start End Description
chr4 147442817 147442829 CAGE_peak_4_at_SLC10A7_5end
chr4 147443001 147443019 CAGE_peak_2_at_SLC10A7_5end
chr4 147443027 147443038 CAGE_peak_3_at_SLC10A7_5end
chr4 147443043 147443113 CAGE_peak_1_at_SLC10A7_5end
chr4 147443475 147443486 CAGE_peak_6_at_SLC10A7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I146511 146511401 146511800 0.62 [{'connected_gene': 'SLC10A7', 'score': 0.39}, {'connected_gene': 'MIR7849', 'score': 0.15}]
chr4 GH04I146519 146519623 146523296 1.99 [{'connected_gene': 'SLC10A7', 'score': 559.99}, {'connected_gene': 'MIR7849', 'score': 0.14}]
chr4 GH04I146467 146467769 146467878 0.38 [{'connected_gene': 'SLC10A7', 'score': 0.23}, {'connected_gene': 'MIR7849', 'score': 0.22}]
chr4 GH04I145769 145769601 145770200 0.64 [{'connected_gene': 'OTUD4', 'score': 21.31}, {'connected_gene': 'ENSG00000248356', 'score': 13.58}, {'connected_gene': 'SLC10A7', 'score': 12.19}, {'connected_gene': 'LSM6', 'score': 9.82}, {'connected_gene': 'GC04M145759', 'score': 0.44}, {'connected_gene': 'ENSG00000279481', 'score': 0.21}, {'connected_gene': 'C4orf51', 'score': 0.17}, {'connected_gene': 'ZNF827', 'score': 0.1}]
chr4 GH04I145812 145812255 145813860 0.97 [{'connected_gene': 'OTUD4', 'score': 29.87}, {'connected_gene': 'ENSG00000248356', 'score': 13.55}, {'connected_gene': 'SLC10A7', 'score': 12.19}, {'connected_gene': 'ANAPC10', 'score': 10.03}, {'connected_gene': 'LSM6', 'score': 9.83}, {'connected_gene': 'ENSG00000279481', 'score': 0.37}, {'connected_gene': 'GC04M145759', 'score': 0.23}, {'connected_gene': 'ZNF827', 'score': 0.13}]
chr4 GH04I146255 146255112 146256952 0.54 [{'connected_gene': 'REELD1', 'score': 10.45}, {'connected_gene': 'SLC10A7', 'score': 5.47}, {'connected_gene': 'ENSG00000251010', 'score': 0.39}, {'connected_gene': 'LOC105377472', 'score': 0.28}]
chr4 GH04I145934 145934299 145940489 2.03 [{'connected_gene': 'ZNF827', 'score': 561.83}, {'connected_gene': 'GC04M145938', 'score': 550.77}, {'connected_gene': 'SLC10A7', 'score': 13.35}, {'connected_gene': 'LSM6', 'score': 10.03}, {'connected_gene': 'PIR42534', 'score': 0.39}]
chr4 GH04I146273 146273244 146273805 0.84 [{'connected_gene': 'ZNF827', 'score': 1.91}, {'connected_gene': 'LSM6', 'score': 1.85}, {'connected_gene': 'LOC105377472', 'score': 0.34}, {'connected_gene': 'ENSG00000251010', 'score': 0.29}, {'connected_gene': 'SLC10A7', 'score': 0.07}]
chr4 GH04I146458 146458025 146459070 0.84 [{'connected_gene': 'LSM6', 'score': 1.22}, {'connected_gene': 'MIR7849', 'score': 0.25}, {'connected_gene': 'SLC10A7', 'score': 0.21}]
chr4 GH04I146275 146275367 146275658 0.68 [{'connected_gene': 'LOC105377472', 'score': 0.37}, {'connected_gene': 'ENSG00000251010', 'score': 0.29}, {'connected_gene': 'SLC10A7', 'score': 0.07}]
chr4 GH04I146294 146294201 146294555 0.4 [{'connected_gene': 'LOC105377472', 'score': 550.77}, {'connected_gene': 'ENSG00000251010', 'score': 10.75}, {'connected_gene': 'REELD1', 'score': 9.94}, {'connected_gene': 'SLC10A7', 'score': 0.07}]
chr4 GH04I146453 146453264 146453597 0.58 [{'connected_gene': 'MIR7849', 'score': 0.26}, {'connected_gene': 'SLC10A7', 'score': 0.2}]
chr4 GH04I146407 146407293 146408499 1.02 [{'connected_gene': 'MIR7849', 'score': 550.77}, {'connected_gene': 'GC04P146380', 'score': 0.31}, {'connected_gene': 'SLC10A7', 'score': 0.14}]
chr4 GH04I146333 146333401 146334378 0.9 [{'connected_gene': 'ENSG00000251010', 'score': 11.14}, {'connected_gene': 'POU4F2', 'score': 10.08}, {'connected_gene': 'LOC105377472', 'score': 0.28}, {'connected_gene': 'GC04P146380', 'score': 0.26}, {'connected_gene': 'SLC10A7', 'score': 0.09}]
chr4 GH04I146328 146328220 146331183 0.91 [{'connected_gene': 'ENSG00000251010', 'score': 11.15}, {'connected_gene': 'POU4F2', 'score': 9.82}, {'connected_gene': 'LOC105377472', 'score': 0.29}, {'connected_gene': 'GC04P146380', 'score': 0.25}, {'connected_gene': 'SLC10A7', 'score': 0.08}]
chr4 GH04I146269 146269388 146269629 0.73 [{'connected_gene': 'ENSG00000251010', 'score': 10.92}, {'connected_gene': 'REELD1', 'score': 9.85}, {'connected_gene': 'POU4F2', 'score': 9.32}, {'connected_gene': 'ZNF827', 'score': 1.53}, {'connected_gene': 'LSM6', 'score': 1.49}, {'connected_gene': 'LOC105377472', 'score': 0.31}, {'connected_gene': 'SLC10A7', 'score': 0.07}]
chr4 GH04I146263 146263661 146264153 0.58 [{'connected_gene': 'ENSG00000251010', 'score': 11.52}, {'connected_gene': 'REELD1', 'score': 9.84}, {'connected_gene': 'LOC105377472', 'score': 0.29}, {'connected_gene': 'SLC10A7', 'score': 0.07}]
chr4 GH04I146271 146271501 146271752 0.73 [{'connected_gene': 'ENSG00000251010', 'score': 11.17}, {'connected_gene': 'ZNF827', 'score': 1.45}, {'connected_gene': 'SLC10A7', 'score': 1.25}, {'connected_gene': 'LOC105377472', 'score': 0.34}]
chr4 GH04I146262 146262736 146262870 0.22 [{'connected_gene': 'ENSG00000251010', 'score': 0.34}, {'connected_gene': 'LOC105377472', 'score': 0.29}, {'connected_gene': 'SLC10A7', 'score': 0.07}]