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
ENST00000430069 [[176737142, 176743312], [176744160, 176744262], [176750758, 176750924], [176751985, 176752113], [176755885, 176755960], [176756100, 176756222], [176763916, 176763977], [176765087, 176765185], [176765273, 176765337], [176767784, 176767926], [176768265, 176768398], [176769291, 176769514], [176771560, 176771706], [176782707, 176782810], [176816253, 176816329], [176914127, 176914266]] [[176743285, 176743312], [176744160, 176744262], [176750758, 176750924], [176751985, 176752113], [176755885, 176755960], [176756100, 176756222], [176763916, 176763977], [176765087, 176765185], [176765273, 176765337], [176767784, 176767926], [176768265, 176768398], [176769291, 176769514], [176771560, 176771706], [176782707, 176782765]]
ENST00000457928 [[176741107, 176743312], [176744160, 176744262], [176750758, 176750924], [176751985, 176752113], [176755885, 176755960], [176756100, 176756222], [176763916, 176763977], [176765087, 176765185], [176765273, 176765337], [176767784, 176767926], [176768265, 176768398], [176769291, 176769514], [176771560, 176771706], [176782707, 176782810], [176816253, 176816329], [176914908, 176915256]] [[176743285, 176743312], [176744160, 176744262], [176750758, 176750924], [176751985, 176752113], [176755885, 176755960], [176756100, 176756222], [176763916, 176763977], [176765087, 176765185], [176765273, 176765337], [176767784, 176767926], [176768265, 176768398], [176769291, 176769514], [176771560, 176771706], [176782707, 176782765]]
ENST00000428970 [[176768337, 176768398], [176769291, 176769514], [176771560, 176771706], [176914127, 176914272]] [[176768337, 176768398], [176769291, 176769457]]
ENST00000424913 [[176768345, 176768398], [176769291, 176769514], [176771560, 176771706], [176816253, 176816329], [176914127, 176914221]] [[176768345, 176768398], [176769291, 176769457]]
ENST00000437738 [[176769291, 176769514], [176771560, 176771706], [176782707, 176782810], [176914127, 176914211]] [[176769291, 176769514], [176771560, 176771706], [176782707, 176782765]]
ENST00000431421 [[176769291, 176769514], [176771560, 176771706], [176816253, 176816329], [176914908, 176915013]] [[176769291, 176769457]]
ENST00000352800 [[176769291, 176769514], [176771560, 176771706], [176782707, 176782810], [176914908, 176915040]] [[176769291, 176769514], [176771560, 176771706], [176782707, 176782765]]
ENST00000450267 [[176769358, 176769514], [176771560, 176771706], [176782707, 176782810], [176797614, 176797733], [176914908, 176914971]] [[176769358, 176769514], [176771560, 176771706], [176782707, 176782765]]
ENST00000431674 [[176769429, 176769514], [176771560, 176771706], [176782707, 176782810], [176804752, 176804829], [176816253, 176816329], [176914908, 176914980]] [[176769429, 176769514], [176771560, 176771706], [176782707, 176782765]]
ENST00000422066 [[176769458, 176769514], [176771560, 176771706], [176782707, 176782810], [176816253, 176816329], [176878658, 176878776], [176914908, 176915013]] [[176769458, 176769514], [176771560, 176771706], [176782707, 176782765]]
ENST00000443315 [[176769474, 176769514], [176771560, 176771706], [176782707, 176782810], [176797614, 176797733], [176816253, 176816329], [176914127, 176914223]] [[176769474, 176769514], [176771560, 176771706], [176782707, 176782765]]
ENST00000422442 [[176771560, 176771706], [176782707, 176782810], [176797614, 176797733], [176816253, 176816329], [176914908, 176915261]] [[176771560, 176771706], [176782707, 176782765]]
ENST00000427349 [[176771579, 176771706], [176782707, 176782810], [176808938, 176808968], [176816253, 176816329], [176849150, 176849237], [176914908, 176915039]] [[176771579, 176771706], [176782707, 176782765]]
ENST00000413084 [[176771665, 176771706], [176782707, 176782810], [176796419, 176796566], [176797614, 176797733], [176816253, 176816329], [176914908, 176915014]] [[176771665, 176771706], [176782707, 176782765]]
ENST00000491623 [[176797241, 176797733], [176816253, 176816329]] None
ENST00000474363 [[176738541, 176743312], [176744160, 176745618]] None
NM_001321193 [[176737142, 176743312], [176744160, 176744262], [176750758, 176750924], [176751985, 176752113], [176755885, 176755960], [176756100, 176756222], [176763916, 176763977], [176765087, 176765185], [176765273, 176765337], [176767784, 176767926], [176768265, 176768398], [176769291, 176769514], [176771560, 176771706], [176782707, 176782810], [176816253, 176816329], [176914127, 176914272]] [[176743285, 176743312], [176744160, 176744262], [176750758, 176750924], [176751985, 176752113], [176755885, 176755960], [176756100, 176756222], [176763916, 176763977], [176765087, 176765185], [176765273, 176765337], [176767784, 176767926], [176768265, 176768398], [176769291, 176769514], [176771560, 176771706], [176782707, 176782765]]
NM_001321195 [[176737142, 176743312], [176744160, 176744262], [176750758, 176750924], [176751985, 176752113], [176755885, 176755960], [176756100, 176756222], [176763916, 176763977], [176765087, 176765185], [176765273, 176765337], [176767784, 176767926], [176768265, 176768398], [176769291, 176769514], [176771560, 176771706], [176816253, 176816329], [176914127, 176914272]] [[176743285, 176743312], [176744160, 176744262], [176750758, 176750924], [176751985, 176752113], [176755885, 176755960], [176756100, 176756222], [176763916, 176763977], [176765087, 176765185], [176765273, 176765337], [176767784, 176767926], [176768265, 176768398], [176769291, 176769457]]
NM_001321194 [[176737142, 176743312], [176744160, 176744262], [176750758, 176750924], [176751985, 176752113], [176755885, 176755960], [176756100, 176756222], [176763916, 176763977], [176765087, 176765185], [176765273, 176765337], [176767784, 176767926], [176768265, 176768398], [176769291, 176769514], [176771560, 176771706], [176782707, 176782810], [176797614, 176797733], [176816253, 176816329], [176914908, 176915114]] [[176743285, 176743312], [176744160, 176744262], [176750758, 176750924], [176751985, 176752113], [176755885, 176755960], [176756100, 176756222], [176763916, 176763977], [176765087, 176765185], [176765273, 176765337], [176767784, 176767926], [176768265, 176768398], [176769291, 176769514], [176771560, 176771706], [176782707, 176782765]]
NM_024665 [[176737142, 176743312], [176744160, 176744262], [176750758, 176750924], [176751985, 176752113], [176755885, 176755960], [176756100, 176756222], [176763916, 176763977], [176765087, 176765185], [176765273, 176765337], [176767784, 176767926], [176768265, 176768398], [176769291, 176769514], [176771560, 176771706], [176782707, 176782810], [176816253, 176816329], [176914908, 176915114]] [[176743285, 176743312], [176744160, 176744262], [176750758, 176750924], [176751985, 176752113], [176755885, 176755960], [176756100, 176756222], [176763916, 176763977], [176765087, 176765185], [176765273, 176765337], [176767784, 176767926], [176768265, 176768398], [176769291, 176769514], [176771560, 176771706], [176782707, 176782765]]
Promoter
Chrom Start End Description
chr3 176914191 176914235 CAGE_peak_6_at_TBL1XR1_5end
chr3 176914238 176914277 CAGE_peak_7_at_TBL1XR1_5end
chr3 176914945 176914956 CAGE_peak_17_at_TBL1XR1_5end
chr3 176914963 176914974 CAGE_peak_14_at_TBL1XR1_5end
chr3 176914998 176915021 CAGE_peak_3_at_TBL1XR1_5end
chr3 176915036 176915047 CAGE_peak_13_at_TBL1XR1_5end
chr3 176915124 176915153 CAGE_peak_5_at_TBL1XR1_5end
chr3 176915215 176915281 CAGE_peak_1_at_TBL1XR1_5end
chr3 176915292 176915324 CAGE_peak_4_at_TBL1XR1_5end
chr3 176915329 176915341 CAGE_peak_12_at_TBL1XR1_5end
chr3 176915375 176915426 CAGE_peak_2_at_TBL1XR1_5end
chr3 176915542 176915553 CAGE_peak_15_at_TBL1XR1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I177322 177322801 177323400 0.38 [{'connected_gene': 'TBL1XR1', 'score': 12.22}, {'connected_gene': 'ASS1P7', 'score': 0.34}, {'connected_gene': 'LINC00501', 'score': 0.31}, {'connected_gene': 'ENSG00000226782', 'score': 0.31}]
chr3 GH03I177325 177325293 177325442 0.63 [{'connected_gene': 'TBL1XR1', 'score': 12.22}, {'connected_gene': 'ENSG00000226782', 'score': 0.34}, {'connected_gene': 'ASS1P7', 'score': 0.31}]
chr3 GH03I177329 177329684 177331785 0.31 [{'connected_gene': 'TBL1XR1', 'score': 12.22}, {'connected_gene': 'ENSG00000226782', 'score': 0.37}, {'connected_gene': 'ASS1P7', 'score': 0.29}]
chr3 GH03I177333 177333001 177334822 1.09 [{'connected_gene': 'TBL1XR1', 'score': 12.6}, {'connected_gene': 'ENSG00000226782', 'score': 0.37}, {'connected_gene': 'ASS1P7', 'score': 0.28}]
chr3 GH03I177335 177335760 177336213 0.92 [{'connected_gene': 'TBL1XR1', 'score': 12.6}, {'connected_gene': 'ENSG00000226782', 'score': 0.39}, {'connected_gene': 'ASS1P7', 'score': 0.28}]
chr3 GH03I177184 177184601 177186000 0.57 [{'connected_gene': 'TBL1XR1', 'score': 0.26}, {'connected_gene': 'GC03M177127', 'score': 0.22}, {'connected_gene': 'RNU6-681P', 'score': 0.22}, {'connected_gene': 'GC03P177057', 'score': 0.13}]
chr3 GH03I177193 177193487 177203125 2.65 [{'connected_gene': 'TBL1XR1', 'score': 550.31}, {'connected_gene': 'RNU6-681P', 'score': 11.18}, {'connected_gene': 'GC03M177127', 'score': 0.19}]
chr3 GH03I177149 177149024 177152293 1.04 [{'connected_gene': 'TBL1XR1', 'score': 11.72}, {'connected_gene': 'TBL1XR1-AS1', 'score': 10.7}, {'connected_gene': 'GC03M177127', 'score': 0.34}, {'connected_gene': 'RNU6-681P', 'score': 0.34}, {'connected_gene': 'GC03P177057', 'score': 0.16}]
chr3 GH03I177051 177051047 177052590 0.52 [{'connected_gene': 'TBL1XR1', 'score': 11.52}, {'connected_gene': 'GC03P177057', 'score': 0.44}, {'connected_gene': 'TBL1XR1-AS1', 'score': 0.39}]
chr3 GH03I177050 177050873 177051042 0.49 [{'connected_gene': 'TBL1XR1', 'score': 11.52}, {'connected_gene': 'GC03P177057', 'score': 0.44}, {'connected_gene': 'TBL1XR1-AS1', 'score': 0.39}]
chr3 GH03I177271 177271119 177271486 0.22 [{'connected_gene': 'TBL1XR1', 'score': 11.95}, {'connected_gene': 'LINC00501', 'score': 8.32}]
chr3 GH03I177247 177247093 177247555 0.52 [{'connected_gene': 'TBL1XR1', 'score': 0.37}, {'connected_gene': 'LINC00501', 'score': 0.25}]
chr3 GH03I177263 177263500 177264288 0.92 [{'connected_gene': 'TBL1XR1', 'score': 12.14}, {'connected_gene': 'LINC00501', 'score': 4.77}]
chr3 GH03I177229 177229889 177230022 0.56 [{'connected_gene': 'TBL1XR1', 'score': 550.77}, {'connected_gene': 'ENSG00000200288', 'score': 9.91}, {'connected_gene': 'LINC00501', 'score': 0.21}]
chr3 GH03I177336 177336953 177340884 1.43 [{'connected_gene': 'TBL1XR1', 'score': 12.59}, {'connected_gene': 'LINC00578', 'score': 5.42}, {'connected_gene': 'ENSG00000226782', 'score': 0.39}, {'connected_gene': 'ASS1P7', 'score': 0.26}]
chr3 GH03I177341 177341979 177347203 1.46 [{'connected_gene': 'TBL1XR1', 'score': 12.59}, {'connected_gene': 'LINC00578', 'score': 5.79}, {'connected_gene': 'ENSG00000226782', 'score': 0.77}, {'connected_gene': 'ASS1P7', 'score': 0.25}]
chr3 GH03I177351 177350833 177352779 0.88 [{'connected_gene': 'TBL1XR1', 'score': 12.81}, {'connected_gene': 'LINC00578', 'score': 5.98}, {'connected_gene': 'ENSG00000226782', 'score': 0.77}]
chr3 GH03I177353 177353401 177353600 0.4 [{'connected_gene': 'TBL1XR1', 'score': 12.81}, {'connected_gene': 'LINC00578', 'score': 5.97}, {'connected_gene': 'ENSG00000226782', 'score': 0.77}]
chr3 GH03I177354 177354063 177355279 0.46 [{'connected_gene': 'TBL1XR1', 'score': 12.81}, {'connected_gene': 'ENSG00000226782', 'score': 0.44}, {'connected_gene': 'LINC00578', 'score': 0.17}]
chr3 GH03I177355 177355929 177363534 1.88 [{'connected_gene': 'TBL1XR1', 'score': 14.14}, {'connected_gene': 'LINC00578', 'score': 5.48}, {'connected_gene': 'ENSG00000226782', 'score': 0.39}]
chr3 GH03I177181 177181001 177182601 0.56 [{'connected_gene': 'RNU6-681P', 'score': 11.13}, {'connected_gene': 'TBL1XR1', 'score': 0.25}, {'connected_gene': 'GC03M177127', 'score': 0.22}, {'connected_gene': 'GC03P177057', 'score': 0.13}]
chr3 GH03I177169 177169880 177171043 0.43 [{'connected_gene': 'RNU6-681P', 'score': 11.25}, {'connected_gene': 'TBL1XR1', 'score': 11.14}, {'connected_gene': 'GC03M177127', 'score': 0.26}, {'connected_gene': 'GC03P177057', 'score': 0.14}]
chr3 GH03I177104 177104401 177104600 0.62 [{'connected_gene': 'RNU6-681P', 'score': 11.5}, {'connected_gene': 'GC03M177121', 'score': 0.37}, {'connected_gene': 'ENSG00000201343', 'score': 0.37}, {'connected_gene': 'GC03P177057', 'score': 0.25}, {'connected_gene': 'TBL1XR1', 'score': 0.13}]
chr3 GH03I177190 177190266 177192000 0.99 [{'connected_gene': 'RNU6-681P', 'score': 11.15}, {'connected_gene': 'TBL1XR1', 'score': 0.28}, {'connected_gene': 'GC03M177127', 'score': 0.2}]
chr3 GH03I177176 177176679 177180200 1.12 [{'connected_gene': 'RNU6-681P', 'score': 11.14}, {'connected_gene': 'TBL1XR1-AS1', 'score': 10.27}, {'connected_gene': 'TBL1XR1', 'score': 0.25}, {'connected_gene': 'GC03M177127', 'score': 0.23}, {'connected_gene': 'GC03P177057', 'score': 0.13}]
chr3 GH03I177210 177210838 177213040 0.83 [{'connected_gene': 'TBL1XR1-AS1', 'score': 10.5}, {'connected_gene': 'TBL1XR1', 'score': 0.37}, {'connected_gene': 'GC03M177127', 'score': 0.17}, {'connected_gene': 'RNU6-681P', 'score': 0.17}]
chr3 GH03I177089 177089201 177089600 0.2 [{'connected_gene': 'TBL1XR1-AS1', 'score': 10.27}, {'connected_gene': 'TBL1XR1', 'score': 5.4}, {'connected_gene': 'GC03P177057', 'score': 0.29}, {'connected_gene': 'GC03M177121', 'score': 0.29}, {'connected_gene': 'ENSG00000201343', 'score': 0.29}]
chr3 GH03I177105 177105601 177106600 0.49 [{'connected_gene': 'TBL1XR1-AS1', 'score': 9.65}, {'connected_gene': 'GC03M177121', 'score': 0.39}, {'connected_gene': 'ENSG00000201343', 'score': 0.39}, {'connected_gene': 'GC03P177057', 'score': 0.25}, {'connected_gene': 'TBL1XR1', 'score': 0.13}]
chr3 GH03I177041 177041112 177041969 0.66 [{'connected_gene': 'TBL1XR1-AS1', 'score': 0.77}, {'connected_gene': 'GC03P177057', 'score': 0.37}, {'connected_gene': 'TBL1XR1', 'score': 0.09}]
chr3 GH03I177242 177242794 177244190 0.38 [{'connected_gene': 'TBL1XR1-AS1', 'score': 10.0}, {'connected_gene': 'LINC00501', 'score': 5.1}, {'connected_gene': 'TBL1XR1', 'score': 0.37}]
chr3 GH03I177238 177238490 177239403 0.2 [{'connected_gene': 'TBL1XR1-AS1', 'score': 10.0}, {'connected_gene': 'LINC00578', 'score': 4.57}, {'connected_gene': 'TBL1XR1', 'score': 0.39}, {'connected_gene': 'LINC00501', 'score': 0.22}]
chr3 GH03I177221 177221601 177222144 0.2 [{'connected_gene': 'LINC00501', 'score': 4.78}, {'connected_gene': 'TBL1XR1', 'score': 0.44}, {'connected_gene': 'GC03M177127', 'score': 0.15}, {'connected_gene': 'RNU6-681P', 'score': 0.15}]
chr3 GH03I177279 177278133 177278257 0.56 [{'connected_gene': 'LINC00501', 'score': 0.37}, {'connected_gene': 'TBL1XR1', 'score': 0.23}]
chr3 GH03I177278 177278986 177279702 0.79 [{'connected_gene': 'LINC00501', 'score': 0.37}, {'connected_gene': 'TBL1XR1', 'score': 0.23}]
chr3 GH03I177280 177280755 177282576 1.16 [{'connected_gene': 'LINC00501', 'score': 0.39}, {'connected_gene': 'TBL1XR1', 'score': 0.23}]
chr3 GH03I177283 177283948 177287745 1.36 [{'connected_gene': 'LINC00501', 'score': 0.44}, {'connected_gene': 'TBL1XR1', 'score': 0.22}]
chr3 GH03I177410 177410393 177411386 0.72 [{'connected_gene': 'LINC00578', 'score': 11.65}, {'connected_gene': 'TBL1XR1', 'score': 10.45}, {'connected_gene': 'TBL1XR1-AS1', 'score': 10.02}, {'connected_gene': 'ENSG00000226782', 'score': 0.21}]
chr3 GH03I177672 177672638 177674519 0.95 [{'connected_gene': 'ENSG00000200288', 'score': 11.35}, {'connected_gene': 'TBL1XR1', 'score': 9.96}, {'connected_gene': 'LINC02015', 'score': 5.56}, {'connected_gene': 'ENSG00000228561', 'score': 4.75}, {'connected_gene': 'LINC00578', 'score': 4.31}, {'connected_gene': 'PIR62695', 'score': 0.44}]
chr3 GH03I177056 177056801 177057000 0.31 [{'connected_gene': 'GC03P177057', 'score': 550.77}, {'connected_gene': 'TBL1XR1', 'score': 11.2}, {'connected_gene': 'TBL1XR1-AS1', 'score': 0.37}]
chr3 GH03I177348 177348716 177350028 0.59 [{'connected_gene': 'ENSG00000226782', 'score': 550.77}, {'connected_gene': 'TBL1XR1', 'score': 11.89}, {'connected_gene': 'LINC00578', 'score': 4.71}]
chr3 GH03I177350 177350193 177350462 0.58 [{'connected_gene': 'ENSG00000226782', 'score': 550.77}, {'connected_gene': 'TBL1XR1', 'score': 11.89}, {'connected_gene': 'LINC00578', 'score': 0.16}]
chr3 GH03I177057 177057201 177058121 0.82 [{'connected_gene': 'GC03P177057', 'score': 550.77}, {'connected_gene': 'TBL1XR1', 'score': 11.2}, {'connected_gene': 'GC03M177121', 'score': 0.21}, {'connected_gene': 'ENSG00000201343', 'score': 0.21}]
chr3 GH03I177110 177110068 177112399 1.03 [{'connected_gene': 'GC03M177121', 'score': 0.44}, {'connected_gene': 'ENSG00000201343', 'score': 0.44}, {'connected_gene': 'GC03P177057', 'score': 0.23}, {'connected_gene': 'TBL1XR1', 'score': 0.13}]
chr3 GH03I177109 177109801 177110002 0.58 [{'connected_gene': 'GC03M177121', 'score': 0.39}, {'connected_gene': 'ENSG00000201343', 'score': 0.39}, {'connected_gene': 'GC03P177057', 'score': 0.23}, {'connected_gene': 'TBL1XR1', 'score': 0.13}]
chr3 GH03I177143 177143527 177148082 1.17 [{'connected_gene': 'GC03M177127', 'score': 0.37}, {'connected_gene': 'RNU6-681P', 'score': 0.37}, {'connected_gene': 'TBL1XR1', 'score': 0.18}, {'connected_gene': 'GC03P177057', 'score': 0.17}]
chr3 GH03I177141 177141756 177142657 0.63 [{'connected_gene': 'GC03M177127', 'score': 0.37}, {'connected_gene': 'RNU6-681P', 'score': 0.37}, {'connected_gene': 'GC03P177057', 'score': 0.18}, {'connected_gene': 'TBL1XR1', 'score': 0.17}]
chr3 GH03I177132 177132401 177132800 0.38 [{'connected_gene': 'GC03M177127', 'score': 0.44}, {'connected_gene': 'RNU6-681P', 'score': 0.44}, {'connected_gene': 'GC03P177057', 'score': 0.18}, {'connected_gene': 'TBL1XR1', 'score': 0.15}]
chr3 GH03I177135 177135665 177136883 0.96 [{'connected_gene': 'GC03M177127', 'score': 0.39}, {'connected_gene': 'RNU6-681P', 'score': 0.39}, {'connected_gene': 'GC03P177057', 'score': 0.18}, {'connected_gene': 'TBL1XR1', 'score': 0.16}]
chr3 GH03I177133 177133642 177135177 0.71 [{'connected_gene': 'GC03M177127', 'score': 0.44}, {'connected_gene': 'RNU6-681P', 'score': 0.44}, {'connected_gene': 'GC03P177057', 'score': 0.18}, {'connected_gene': 'TBL1XR1', 'score': 0.16}]
chr3 GH03I177125 177125802 177126779 0.2 [{'connected_gene': 'GC03M177127', 'score': 550.77}, {'connected_gene': 'RNU6-681P', 'score': 550.77}, {'connected_gene': 'GC03P177057', 'score': 0.2}, {'connected_gene': 'TBL1XR1', 'score': 0.15}]
chr3 GH03I177134 177133001 177133200 0.2 [{'connected_gene': 'GC03M177127', 'score': 0.44}, {'connected_gene': 'RNU6-681P', 'score': 0.44}, {'connected_gene': 'GC03P177057', 'score': 0.18}, {'connected_gene': 'TBL1XR1', 'score': 0.16}]
chr3 GH03I177130 177130848 177131510 0.2 [{'connected_gene': 'GC03M177127', 'score': 0.44}, {'connected_gene': 'RNU6-681P', 'score': 0.44}, {'connected_gene': 'GC03P177057', 'score': 0.19}, {'connected_gene': 'TBL1XR1', 'score': 0.15}]
chr3 GH03I177137 177137801 177139032 0.31 [{'connected_gene': 'GC03M177127', 'score': 0.39}, {'connected_gene': 'RNU6-681P', 'score': 0.39}, {'connected_gene': 'GC03P177057', 'score': 0.18}, {'connected_gene': 'TBL1XR1', 'score': 0.17}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.