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
ENST00000476089 [[182321928, 182322578], [182322922, 182324118]] None
ENST00000339307 [[182321933, 182322578], [182322922, 182323044], [182339686, 182339793], [182339885, 182340015], [182340546, 182340945]] [[182322381, 182322578], [182322922, 182323044], [182339686, 182339793], [182339885, 182340015], [182340546, 182340578]]
ENST00000397033 [[182321951, 182322578], [182322922, 182323044], [182339686, 182339793], [182339885, 182340015], [182343483, 182343551], [182344863, 182344993], [182346324, 182346410], [182347086, 182347149], [182347240, 182347378], [182350607, 182350719], [182358051, 182358146], [182359448, 182359539], [182360097, 182360143], [182360509, 182360664], [182363349, 182363504], [182374384, 182374534], [182376425, 182376502], [182386917, 182387068], [182388163, 182388259], [182388897, 182388977], [182389928, 182390018], [182392023, 182392114], [182394267, 182394375], [182395250, 182395376], [182396383, 182396503], [182398998, 182399097], [182399542, 182399662], [182400158, 182400914]] [[182322381, 182322578], [182322922, 182323044], [182339686, 182339793], [182339885, 182340015], [182343483, 182343551], [182344863, 182344993], [182346324, 182346410], [182347086, 182347149], [182347240, 182347378], [182350607, 182350719], [182358051, 182358146], [182359448, 182359539], [182360097, 182360143], [182360509, 182360664], [182363349, 182363504], [182374384, 182374534], [182376425, 182376502], [182386917, 182387068], [182388163, 182388259], [182388897, 182388977], [182389928, 182390018], [182392023, 182392114], [182394267, 182394375], [182395250, 182395376], [182396383, 182396503], [182398998, 182399097], [182399542, 182399662], [182400158, 182400254]]
ENST00000465522 [[182322130, 182322578], [182322922, 182323044], [182339686, 182339793], [182339885, 182340015], [182343483, 182343551], [182344863, 182344993], [182346324, 182346410], [182347086, 182347149], [182347240, 182347378], [182350607, 182351036]] None
ENST00000233573 [[182322154, 182322578], [182322922, 182323044], [182339686, 182339793], [182339885, 182340015], [182343483, 182343551], [182344863, 182344993], [182346324, 182346410], [182347086, 182347149], [182347240, 182347378], [182350607, 182350719], [182358051, 182358146], [182359448, 182359539], [182360097, 182360143], [182360509, 182360664], [182363349, 182363504], [182374384, 182374532]] [[182322381, 182322578], [182322922, 182323044], [182339686, 182339793], [182339885, 182340015], [182343483, 182343551], [182344863, 182344993], [182346324, 182346410], [182347086, 182347149], [182347240, 182347378], [182350607, 182350719], [182358051, 182358146], [182359448, 182359539], [182360097, 182360143], [182360509, 182360664], [182363349, 182363504], [182374384, 182374532]]
ENST00000484404 [[182322439, 182322578], [182322922, 182323044], [182339686, 182340017]] None
ENST00000478440 [[182322967, 182323044], [182339686, 182339793], [182343483, 182344443]] None
ENST00000473002 [[182357760, 182358146], [182359448, 182359539], [182360097, 182360143], [182360509, 182360559]] None
ENST00000490435 [[182363007, 182363504], [182374384, 182374534], [182376425, 182376498]] None
ENST00000476824 [[182363298, 182363504], [182374384, 182374534], [182376425, 182376502], [182386917, 182387068], [182388163, 182388259], [182388897, 182388977], [182389928, 182390018], [182392023, 182392177]] None
ENST00000468948 [[182388061, 182388259], [182388897, 182389092]] None
NM_001316312 [[182321618, 182322578], [182322922, 182323044], [182339686, 182339793], [182339885, 182340015], [182340546, 182340945]] [[182322381, 182322578], [182322922, 182323044], [182339686, 182339793], [182339885, 182340015], [182340546, 182340578]]
NM_000885 [[182321618, 182322578], [182322922, 182323044], [182339686, 182339793], [182339885, 182340015], [182343483, 182343551], [182344863, 182344993], [182346324, 182346410], [182347086, 182347149], [182347240, 182347378], [182350607, 182350719], [182358051, 182358146], [182359448, 182359539], [182360097, 182360143], [182360509, 182360664], [182363349, 182363504], [182374384, 182374534], [182376425, 182376502], [182386917, 182387068], [182388163, 182388259], [182388897, 182388977], [182389928, 182390018], [182392023, 182392114], [182394267, 182394375], [182395250, 182395376], [182396383, 182396503], [182398998, 182399097], [182399542, 182399662], [182400158, 182403655]] [[182322381, 182322578], [182322922, 182323044], [182339686, 182339793], [182339885, 182340015], [182343483, 182343551], [182344863, 182344993], [182346324, 182346410], [182347086, 182347149], [182347240, 182347378], [182350607, 182350719], [182358051, 182358146], [182359448, 182359539], [182360097, 182360143], [182360509, 182360664], [182363349, 182363504], [182374384, 182374534], [182376425, 182376502], [182386917, 182387068], [182388163, 182388259], [182388897, 182388977], [182389928, 182390018], [182392023, 182392114], [182394267, 182394375], [182395250, 182395376], [182396383, 182396503], [182398998, 182399097], [182399542, 182399662], [182400158, 182400254]]
Promoter
Chrom Start End Description
chr2 182321599 182321638 CAGE_peak_9_at_ITGA4_5end
chr2 182321734 182321748 CAGE_peak_11_at_ITGA4_5end
chr2 182321925 182321940 CAGE_peak_4_at_ITGA4_5end
chr2 182322042 182322049 CAGE_peak_14_at_ITGA4_5end
chr2 182322070 182322155 CAGE_peak_1_at_ITGA4_5end
chr2 182322231 182322262 CAGE_peak_2_at_ITGA4_5end
chr2 182322274 182322290 CAGE_peak_8_at_ITGA4_5end
chr2 182322298 182322301 CAGE_peak_15_at_ITGA4_5end
chr2 182322344 182322359 CAGE_peak_6_at_ITGA4_5end
chr2 182322766 182322767 CAGE_peak_22_at_ITGA4_5end
chr2 182322842 182322860 CAGE_peak_7_at_ITGA4_5end
chr2 182322864 182322885 CAGE_peak_3_at_ITGA4_5end
chr2 182322911 182322927 CAGE_peak_12_at_ITGA4_5end
chr2 182322938 182322962 CAGE_peak_5_at_ITGA4_5end
chr2 182322965 182322977 CAGE_peak_13_at_ITGA4_5end
chr2 182322985 182322998 CAGE_peak_10_at_ITGA4_5end
chr2 182358145 182358149 CAGE_peak_23_at_ITGA4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I181619 181619295 181620804 0.4 [{'connected_gene': 'CERKL', 'score': 9.99}, {'connected_gene': 'NEUROD1', 'score': 9.99}, {'connected_gene': 'ENSG00000234595', 'score': 9.99}, {'connected_gene': 'ITGA4', 'score': 6.7}, {'connected_gene': 'GC02P181566', 'score': 0.23}, {'connected_gene': 'GC02M181678', 'score': 0.22}]
chr2 GH02I181554 181554162 181554554 0.42 [{'connected_gene': 'CERKL', 'score': 5.26}, {'connected_gene': 'NEUROD1', 'score': 4.86}, {'connected_gene': 'GC02P181566', 'score': 0.39}, {'connected_gene': 'ITGA4', 'score': 0.15}]
chr2 GH02I181470 181470344 181472007 0.93 [{'connected_gene': 'CERKL', 'score': 4.19}, {'connected_gene': 'ITGA4', 'score': 3.58}, {'connected_gene': 'GC02P181566', 'score': 0.15}]
chr2 GH02I181475 181475138 181476155 0.2 [{'connected_gene': 'CERKL', 'score': 4.92}, {'connected_gene': 'ITGA4', 'score': 0.37}, {'connected_gene': 'GC02P181566', 'score': 0.16}]
chr2 GH02I181552 181552426 181553451 0.31 [{'connected_gene': 'CERKL', 'score': 6.52}, {'connected_gene': 'ITGA4', 'score': 5.04}, {'connected_gene': 'GC02P181566', 'score': 0.39}]
chr2 GH02I181437 181437170 181446456 0.46 [{'connected_gene': 'CERKL', 'score': 17.44}, {'connected_gene': 'ITGA4', 'score': 8.44}, {'connected_gene': 'ENSG00000226681', 'score': 0.37}]
chr2 GH02I181374 181374878 181375702 0.97 [{'connected_gene': 'ITGA4', 'score': 11.06}, {'connected_gene': 'CERKL', 'score': 8.02}, {'connected_gene': 'UBE2E3', 'score': 5.38}, {'connected_gene': 'GC02P181326', 'score': 0.25}, {'connected_gene': 'ENSG00000226681', 'score': 0.23}, {'connected_gene': 'LINC01934', 'score': 0.06}]
chr2 GH02I181396 181396254 181397514 0.8 [{'connected_gene': 'ITGA4', 'score': 17.06}, {'connected_gene': 'CERKL', 'score': 4.82}, {'connected_gene': 'ENSG00000226681', 'score': 0.31}, {'connected_gene': 'GC02P181326', 'score': 0.19}, {'connected_gene': 'LINC01934', 'score': 0.06}]
chr2 GH02I181392 181392967 181396000 1.27 [{'connected_gene': 'ITGA4', 'score': 19.76}, {'connected_gene': 'CERKL', 'score': 4.74}, {'connected_gene': 'ENSG00000226681', 'score': 0.29}, {'connected_gene': 'GC02P181326', 'score': 0.2}, {'connected_gene': 'LINC01934', 'score': 0.06}]
chr2 GH02I181397 181397736 181398592 0.69 [{'connected_gene': 'ITGA4', 'score': 11.06}, {'connected_gene': 'CERKL', 'score': 4.86}, {'connected_gene': 'ENSG00000226681', 'score': 0.31}, {'connected_gene': 'GC02P181326', 'score': 0.19}, {'connected_gene': 'LINC01934', 'score': 0.06}]
chr2 GH02I181454 181454898 181468555 2.62 [{'connected_gene': 'ITGA4', 'score': 561.4}, {'connected_gene': 'CERKL', 'score': 18.87}, {'connected_gene': 'GC02P181566', 'score': 0.14}]
chr2 GH02I181129 181129235 181133207 0.31 [{'connected_gene': 'ITGA4', 'score': 10.35}, {'connected_gene': 'UBE2E3', 'score': 6.42}, {'connected_gene': 'CERKL', 'score': 5.84}, {'connected_gene': 'LINC01934', 'score': 0.31}, {'connected_gene': 'ENSG00000238171', 'score': 0.31}, {'connected_gene': 'MIR4437', 'score': 0.09}]
chr2 GH02I181138 181138684 181139243 0.43 [{'connected_gene': 'ITGA4', 'score': 10.3}, {'connected_gene': 'UBE2E3', 'score': 7.44}, {'connected_gene': 'ENSG00000238171', 'score': 0.29}, {'connected_gene': 'LINC01934', 'score': 0.28}, {'connected_gene': 'MIR4437', 'score': 0.1}]
chr2 GH02I181139 181139434 181143499 1.14 [{'connected_gene': 'ITGA4', 'score': 16.72}, {'connected_gene': 'UBE2E3', 'score': 8.38}, {'connected_gene': 'LINC01934', 'score': 0.28}, {'connected_gene': 'ENSG00000238171', 'score': 0.28}, {'connected_gene': 'MIR4437', 'score': 0.1}]
chr2 GH02I181123 181123506 181128868 1.14 [{'connected_gene': 'ITGA4', 'score': 11.71}, {'connected_gene': 'UBE2E3', 'score': 10.03}, {'connected_gene': 'LINC01934', 'score': 0.34}, {'connected_gene': 'ENSG00000238171', 'score': 0.34}, {'connected_gene': 'MIR4437', 'score': 0.1}]
chr2 GH02I181162 181162800 181166668 0.96 [{'connected_gene': 'ITGA4', 'score': 10.78}, {'connected_gene': 'UBE2E3', 'score': 8.11}, {'connected_gene': 'ENSG00000238171', 'score': 0.22}, {'connected_gene': 'LINC01934', 'score': 0.21}, {'connected_gene': 'MIR4437', 'score': 0.11}]
chr2 GH02I181281 181281055 181282318 0.2 [{'connected_gene': 'ITGA4', 'score': 11.59}, {'connected_gene': 'UBE2E3', 'score': 5.67}, {'connected_gene': 'MIR4437', 'score': 0.34}, {'connected_gene': 'LINC01934', 'score': 0.1}, {'connected_gene': 'ENSG00000238171', 'score': 0.1}]
chr2 GH02I181203 181203084 181203935 0.54 [{'connected_gene': 'ITGA4', 'score': 10.48}, {'connected_gene': 'UBE2E3', 'score': 7.74}, {'connected_gene': 'ENSG00000238171', 'score': 0.15}, {'connected_gene': 'MIR4437', 'score': 0.15}, {'connected_gene': 'LINC01934', 'score': 0.15}]
chr2 GH02I181275 181275323 181276335 0.66 [{'connected_gene': 'ITGA4', 'score': 10.95}, {'connected_gene': 'UBE2E3', 'score': 5.82}, {'connected_gene': 'MIR4437', 'score': 0.31}, {'connected_gene': 'ENSG00000238171', 'score': 0.1}, {'connected_gene': 'LINC01934', 'score': 0.09}]
chr2 GH02I181303 181303873 181315459 1.66 [{'connected_gene': 'ITGA4', 'score': 20.11}, {'connected_gene': 'UBE2E3', 'score': 6.98}, {'connected_gene': 'MIR4437', 'score': 0.77}, {'connected_gene': 'GC02P181326', 'score': 0.37}, {'connected_gene': 'LINC01934', 'score': 0.08}]
chr2 GH02I181120 181120387 181122250 0.2 [{'connected_gene': 'ITGA4', 'score': 11.7}, {'connected_gene': 'LINC01934', 'score': 0.37}, {'connected_gene': 'ENSG00000238171', 'score': 0.37}, {'connected_gene': 'MIR4437', 'score': 0.09}]
chr2 GH02I181143 181143739 181146934 0.81 [{'connected_gene': 'ITGA4', 'score': 16.81}, {'connected_gene': 'ENSG00000238171', 'score': 0.28}, {'connected_gene': 'LINC01934', 'score': 0.26}, {'connected_gene': 'MIR4437', 'score': 0.1}]
chr2 GH02I181151 181151268 181153929 0.2 [{'connected_gene': 'ITGA4', 'score': 14.6}, {'connected_gene': 'ENSG00000238171', 'score': 0.25}, {'connected_gene': 'LINC01934', 'score': 0.23}, {'connected_gene': 'MIR4437', 'score': 0.1}]
chr2 GH02I181380 181380569 181380943 0.31 [{'connected_gene': 'ITGA4', 'score': 11.45}, {'connected_gene': 'ENSG00000226681', 'score': 0.26}, {'connected_gene': 'GC02P181326', 'score': 0.23}, {'connected_gene': 'LINC01934', 'score': 0.06}]
chr2 GH02I181378 181378293 181378514 0.4 [{'connected_gene': 'ITGA4', 'score': 11.06}, {'connected_gene': 'ENSG00000226681', 'score': 0.25}, {'connected_gene': 'GC02P181326', 'score': 0.23}, {'connected_gene': 'LINC01934', 'score': 0.06}]
chr2 GH02I181371 181371156 181373307 0.66 [{'connected_gene': 'ITGA4', 'score': 19.46}, {'connected_gene': 'GC02P181326', 'score': 0.25}, {'connected_gene': 'ENSG00000226681', 'score': 0.23}, {'connected_gene': 'LINC01934', 'score': 0.06}]
chr2 GH02I181255 181255702 181256048 0.26 [{'connected_gene': 'ITGA4', 'score': 10.4}, {'connected_gene': 'MIR4437', 'score': 0.25}, {'connected_gene': 'ENSG00000238171', 'score': 0.11}, {'connected_gene': 'LINC01934', 'score': 0.1}]
chr2 GH02I181224 181224916 181225208 0.46 [{'connected_gene': 'ITGA4', 'score': 4.87}, {'connected_gene': 'MIR4437', 'score': 0.18}, {'connected_gene': 'ENSG00000238171', 'score': 0.13}, {'connected_gene': 'LINC01934', 'score': 0.13}]
chr2 GH02I181258 181258434 181259397 0.38 [{'connected_gene': 'ITGA4', 'score': 10.33}, {'connected_gene': 'MIR4437', 'score': 0.25}, {'connected_gene': 'ENSG00000238171', 'score': 0.1}, {'connected_gene': 'LINC01934', 'score': 0.1}]
chr2 GH02I181252 181252256 181253390 0.79 [{'connected_gene': 'ITGA4', 'score': 10.4}, {'connected_gene': 'MIR4437', 'score': 0.23}, {'connected_gene': 'ENSG00000238171', 'score': 0.11}, {'connected_gene': 'LINC01934', 'score': 0.1}]
chr2 GH02I181401 181401875 181403358 0.2 [{'connected_gene': 'ITGA4', 'score': 11.07}, {'connected_gene': 'ENSG00000226681', 'score': 0.34}, {'connected_gene': 'GC02P181326', 'score': 0.18}]
chr2 GH02I181404 181404580 181405291 0.2 [{'connected_gene': 'ITGA4', 'score': 10.77}, {'connected_gene': 'ENSG00000226681', 'score': 0.34}, {'connected_gene': 'GC02P181326', 'score': 0.18}]
chr2 GH02I181410 181410553 181412181 0.96 [{'connected_gene': 'ITGA4', 'score': 11.02}, {'connected_gene': 'ENSG00000226681', 'score': 0.39}, {'connected_gene': 'GC02P181326', 'score': 0.18}]
chr2 GH02I181405 181405392 181408151 0.31 [{'connected_gene': 'ITGA4', 'score': 11.27}, {'connected_gene': 'ENSG00000226681', 'score': 0.37}, {'connected_gene': 'GC02P181326', 'score': 0.18}]
chr2 GH02I181419 181419075 181421385 0.91 [{'connected_gene': 'ITGA4', 'score': 11.42}, {'connected_gene': 'ENSG00000226681', 'score': 0.44}, {'connected_gene': 'GC02P181326', 'score': 0.16}]
chr2 GH02I181491 181491508 181492487 0.31 [{'connected_gene': 'ITGA4', 'score': 16.17}, {'connected_gene': 'GC02P181566', 'score': 0.19}]
chr2 GH02I181428 181428767 181429753 0.2 [{'connected_gene': 'ITGA4', 'score': 12.39}, {'connected_gene': 'ENSG00000226681', 'score': 0.77}]
chr2 GH02I181446 181446758 181446977 0.56 [{'connected_gene': 'ITGA4', 'score': 11.18}, {'connected_gene': 'ENSG00000226681', 'score': 0.34}]
chr2 GH02I181472 181472554 181473960 0.31 [{'connected_gene': 'ITGA4', 'score': 0.37}, {'connected_gene': 'GC02P181566', 'score': 0.16}]
chr2 GH02I181473 181472014 181472163 0.63 [{'connected_gene': 'ITGA4', 'score': 5.45}, {'connected_gene': 'GC02P181566', 'score': 0.16}]
chr2 GH02I181503 181503154 181503320 0.34 [{'connected_gene': 'ITGA4', 'score': 16.49}, {'connected_gene': 'GC02P181566', 'score': 0.21}]
chr2 GH02I181481 181481374 181487165 0.31 [{'connected_gene': 'ITGA4', 'score': 11.6}, {'connected_gene': 'GC02P181566', 'score': 0.18}]
chr2 GH02I181452 181452903 181453429 0.2 [{'connected_gene': 'ITGA4', 'score': 0.77}, {'connected_gene': 'ENSG00000226681', 'score': 0.31}]
chr2 GH02I181493 181493334 181494936 0.2 [{'connected_gene': 'ITGA4', 'score': 16.66}, {'connected_gene': 'GC02P181566', 'score': 0.19}]
chr2 GH02I181430 181430113 181431177 0.92 [{'connected_gene': 'ITGA4', 'score': 12.39}, {'connected_gene': 'ENSG00000226681', 'score': 0.77}]
chr2 GH02I181453 181453863 181454447 0.2 [{'connected_gene': 'ITGA4', 'score': 0.77}, {'connected_gene': 'ENSG00000226681', 'score': 0.31}]
chr2 GH02I181751 181751722 181753061 0.63 [{'connected_gene': 'PPP1R1C', 'score': 9.95}, {'connected_gene': 'ITGA4', 'score': 8.94}, {'connected_gene': 'RNU6ATAC19P', 'score': 0.39}, {'connected_gene': 'ENSG00000260742', 'score': 0.12}]
chr2 GH02I181036 181036280 181038659 0.56 [{'connected_gene': 'UBE2E3', 'score': 20.63}, {'connected_gene': 'LOC105373772', 'score': 15.94}, {'connected_gene': 'ITGA4', 'score': 14.43}, {'connected_gene': 'LINC01934', 'score': 0.21}]
chr2 GH02I181104 181104634 181105001 0.85 [{'connected_gene': 'ENSG00000238171', 'score': 550.77}, {'connected_gene': 'ITGA4', 'score': 12.35}, {'connected_gene': 'CERKL', 'score': 10.06}, {'connected_gene': 'NEUROD1', 'score': 10.06}, {'connected_gene': 'ENSG00000234595', 'score': 10.06}, {'connected_gene': 'UBE2E3', 'score': 8.61}, {'connected_gene': 'LINC01934', 'score': 0.77}]
chr2 GH02I181106 181106054 181108412 1.01 [{'connected_gene': 'ENSG00000238171', 'score': 550.77}, {'connected_gene': 'ITGA4', 'score': 12.0}, {'connected_gene': 'LINC01934', 'score': 0.44}, {'connected_gene': 'MIR4437', 'score': 0.08}]
chr2 GH02I181326 181326861 181327107 0.51 [{'connected_gene': 'GC02P181326', 'score': 550.77}, {'connected_gene': 'ITGA4', 'score': 10.93}, {'connected_gene': 'ENSG00000226681', 'score': 0.15}, {'connected_gene': 'LINC01934', 'score': 0.07}]
chr2 GH02I181424 181424232 181427357 0.2 [{'connected_gene': 'ENSG00000226681', 'score': 550.77}, {'connected_gene': 'ITGA4', 'score': 11.48}]

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