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
ENST00000521277 [[109416312, 109416778], [109427237, 109427293], [109466421, 109466584], [109467960, 109468140], [109471368, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109479691]] [[109466424, 109466584], [109467960, 109468140], [109471368, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477092]]
ENST00000521737 [[109416355, 109416778], [109421394, 109421489], [109461627, 109461668]] None
ENST00000336977 [[109416355, 109416778], [109421394, 109421489], [109427237, 109427293], [109466421, 109466584], [109471368, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480543, 109480665], [109481774, 109481919], [109483951, 109485113]] [[109466424, 109466584], [109471368, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480543, 109480665], [109481774, 109481919], [109483951, 109484173]]
ENST00000407272 [[109416355, 109416778], [109421394, 109421489], [109427237, 109427293], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109485113]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109484173]]
ENST00000517392 [[109416355, 109416778], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109485135]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109484173]]
ENST00000519286 [[109416365, 109416454], [109461623, 109461878], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476471]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476471]]
ENST00000518329 [[109416384, 109416778], [109461623, 109461878], [109466421, 109466584]] [[109466424, 109466584]]
ENST00000522461 [[109416387, 109416778], [109421394, 109421489], [109466421, 109466510]] [[109466424, 109466510]]
ENST00000518853 [[109416390, 109416454], [109427237, 109427293], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477026]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477026]]
ENST00000521522 [[109416683, 109416778], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109480227, 109480305], [109480543, 109480665], [109481774, 109481919], [109483951, 109485110]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109480227, 109480305], [109480543, 109480665], [109481774, 109481919], [109483951, 109484173]]
ENST00000524064 [[109416698, 109416778], [109421394, 109421489], [109427237, 109427293], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476438]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476438]]
ENST00000522608 [[109416707, 109416778], [109451938, 109452039], [109461623, 109461878], [109466421, 109466584], [109467960, 109468139]] [[109466424, 109466584], [109467960, 109468139]]
ENST00000521503 [[109416712, 109416778], [109446193, 109446234], [109466421, 109466584], [109467960, 109468136]] [[109466424, 109466584], [109467960, 109468136]]
ENST00000519407 [[109416712, 109416778], [109446193, 109446234], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476504]] [[109471394, 109471442], [109475035, 109475152], [109476432, 109476504]]
ENST00000519095 [[109416714, 109416778], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477177]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477092]]
ENST00000520610 [[109416721, 109416778], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109479802, 109479921], [109480227, 109480305], [109480471, 109480665], [109481774, 109481862]] [[109471394, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109479802, 109479862]]
ENST00000368968 [[109416722, 109416778], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481933], [109483951, 109484366]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481933], [109483951, 109483952]]
ENST00000522490 [[109416726, 109416778], [109427237, 109427293], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480356], [109480471, 109480511]] [[109471394, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480356], [109480471, 109480511]]
ENST00000523209 [[109416728, 109416778], [109461623, 109461878], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477057]] [[109471394, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477057]]
ENST00000368970 [[109416731, 109416778], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480420, 109480665], [109481774, 109481919], [109483951, 109484369]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480420, 109480665], [109481774, 109481919], [109483951, 109484173]]
ENST00000520883 [[109416746, 109416778], [109466421, 109466584], [109471368, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480543, 109480665], [109481774, 109481919], [109483951, 109485110]] [[109466424, 109466584], [109471368, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480543, 109480665], [109481774, 109481919], [109483951, 109484173]]
ENST00000520761 [[109416753, 109416778], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480649]] None
ENST00000523787 [[109416764, 109416778], [109450506, 109450695], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109485106]] [[109450689, 109450695], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109484173]]
ENST00000359793 [[109450506, 109450695], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109485113]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109484173]]
ENST00000523174 [[109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481968]] [[109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481934]]
NM_001271852 [[109416355, 109416778], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109485115]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109484173]]
NM_001271853 [[109416355, 109416778], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481933], [109483951, 109485115]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481933], [109483951, 109483952]]
NM_001083535 [[109416355, 109416778], [109421394, 109421489], [109427237, 109427293], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109485115]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109484173]]
NM_173830 [[109450506, 109450695], [109466421, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109485115]] [[109466424, 109466584], [109467960, 109468140], [109471320, 109471442], [109475035, 109475152], [109476432, 109476510], [109476993, 109477080], [109480227, 109480305], [109480471, 109480665], [109481774, 109481919], [109483951, 109484173]]
Promoter
Chrom Start End Description
chr6 109416341 109416393 CAGE_peak_2_at_CEP57L1_5end
chr6 109416687 109416722 CAGE_peak_1_at_CEP57L1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I109866 109866970 109868012 0.59 [{'connected_gene': 'ZBTB24', 'score': 10.78}, {'connected_gene': 'CEP57L1', 'score': 10.73}, {'connected_gene': 'PPIL6', 'score': 6.14}, {'connected_gene': 'LOC105377938', 'score': 4.85}, {'connected_gene': 'PIR51283', 'score': 0.39}, {'connected_gene': 'ENSG00000232311', 'score': 0.26}]
chr6 GH06I109876 109876184 109878553 0.77 [{'connected_gene': 'ZBTB24', 'score': 10.78}, {'connected_gene': 'CEP57L1', 'score': 10.73}, {'connected_gene': 'PPIL6', 'score': 5.59}, {'connected_gene': 'PIR51283', 'score': 0.77}, {'connected_gene': 'ENSG00000232311', 'score': 0.23}]
chr6 GH06I108699 108699201 108700400 1.1 [{'connected_gene': 'ZBTB24', 'score': 13.83}, {'connected_gene': 'CEP57L1', 'score': 11.79}, {'connected_gene': 'SEC63', 'score': 10.29}, {'connected_gene': 'ENSG00000271730', 'score': 9.73}, {'connected_gene': 'PIR33619', 'score': 0.39}, {'connected_gene': 'LINC00222', 'score': 0.23}]
chr6 GH06I109120 109120201 109121774 0.67 [{'connected_gene': 'CD164', 'score': 10.72}, {'connected_gene': 'ENSG00000271730', 'score': 5.41}, {'connected_gene': 'CCDC162P', 'score': 4.07}, {'connected_gene': 'CEP57L1', 'score': 0.31}]
chr6 GH06I109424 109424261 109425247 0.77 [{'connected_gene': 'SMPD2', 'score': 22.1}, {'connected_gene': 'ENSG00000260273', 'score': 14.25}, {'connected_gene': 'ZBTB24', 'score': 10.96}, {'connected_gene': 'CEP57L1', 'score': 10.76}, {'connected_gene': 'FIG4', 'score': 5.6}, {'connected_gene': 'PPIL6', 'score': 0.37}, {'connected_gene': 'PIR52905', 'score': 0.28}, {'connected_gene': 'GC06P109389', 'score': 0.28}]
chr6 GH06I109771 109771208 109773820 1.34 [{'connected_gene': 'SMPD2', 'score': 14.04}, {'connected_gene': 'ZBTB24', 'score': 10.8}, {'connected_gene': 'CEP57L1', 'score': 10.73}, {'connected_gene': 'FIG4', 'score': 10.11}, {'connected_gene': 'ENSG00000260273', 'score': 9.97}, {'connected_gene': 'CCDC162P', 'score': 8.49}, {'connected_gene': 'MICAL1', 'score': 3.23}, {'connected_gene': 'CDC40', 'score': 1.78}, {'connected_gene': 'AK9', 'score': 1.48}, {'connected_gene': 'CD164', 'score': 1.25}, {'connected_gene': 'GC06M109753', 'score': 0.37}, {'connected_gene': 'ENSG00000232311', 'score': 0.23}]
chr6 GH06I109138 109138558 109140011 0.52 [{'connected_gene': 'PPIL6', 'score': 10.64}, {'connected_gene': 'CD164', 'score': 10.59}, {'connected_gene': 'CCDC162P', 'score': 9.88}, {'connected_gene': 'ENSG00000233908', 'score': 9.68}, {'connected_gene': 'PTCHD3P3', 'score': 9.67}, {'connected_gene': 'CEP57L1', 'score': 0.26}]
chr6 GH06I109127 109127455 109127514 0.61 [{'connected_gene': 'CEP57L1', 'score': 550.29}, {'connected_gene': 'CCDC162P', 'score': 0.28}]
chr6 GH06I109092 109092000 109097069 2.29 [{'connected_gene': 'SESN1', 'score': 550.77}, {'connected_gene': 'CEP57L1', 'score': 550.77}, {'connected_gene': 'ZBTB24', 'score': 30.89}, {'connected_gene': 'ENSG00000271730', 'score': 5.44}, {'connected_gene': 'GC06M109088', 'score': 0.44}]
chr6 GH06I109117 109117400 109117601 0.76 [{'connected_gene': 'CCDC162P', 'score': 10.46}, {'connected_gene': 'RNU6-653P', 'score': 10.38}, {'connected_gene': 'PTCHD3P3', 'score': 10.31}, {'connected_gene': 'ENSG00000233908', 'score': 10.31}, {'connected_gene': 'CEP57L1', 'score': 0.34}]
chr6 GH06I108732 108732095 108739308 1.47 [{'connected_gene': 'SEC63', 'score': 10.84}, {'connected_gene': 'ZBTB24', 'score': 10.76}, {'connected_gene': 'CEP57L1', 'score': 10.76}, {'connected_gene': 'FOXO3', 'score': 2.9}, {'connected_gene': 'LINC00222', 'score': 0.37}, {'connected_gene': 'PIR33619', 'score': 0.23}]

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