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
ENST00000555810 [[89987799, 89987839], [89998978, 89999087], [89999875, 89999986], [90001136, 90001643]] [[89999925, 89999986], [90001136, 90001643]]
ENST00000554444 [[89988258, 89988653], [89998978, 89999087], [89999875, 89999986], [90001136, 90002499]] [[89999925, 89999986], [90001136, 90002212]]
ENST00000556565 [[89988323, 89988591], [89998978, 89999087], [89999875, 89999986], [90001136, 90001214]] [[89999925, 89999986], [90001136, 90001214]]
ENST00000315491 [[89989686, 89989866], [89998978, 89999087], [89999875, 89999986], [90001136, 90002505]] [[89989809, 89989866], [89998978, 89999087], [89999875, 89999986], [90001136, 90002212]]
ENST00000553656 [[89989745, 89989866], [89998208, 89998347], [89998978, 89999087], [89999875, 89999986], [90001136, 90001206]] [[89989809, 89989866], [89998208, 89998307]]
ENST00000556536 [[89989749, 89989866], [89998978, 89999087], [89999875, 89999986], [90000737, 90000983], [90001136, 90001478]] [[89989809, 89989866], [89998978, 89999087], [89999875, 89999986], [90000737, 90000907]]
ENST00000554116 [[89989752, 89989866], [89998088, 89998516]] None
ENST00000554927 [[89989752, 89989866], [89998978, 89999425]] None
ENST00000557262 [[89989752, 89989866], [89998208, 89998347], [89998978, 89999087], [89999875, 89999986], [90000131, 90000546]] [[89989809, 89989866], [89998208, 89998307]]
ENST00000557490 [[89989752, 89989866], [89998978, 89999087], [89999546, 89999775], [89999875, 89999986], [90001136, 90001379]] [[89989809, 89989866], [89998978, 89999087], [89999546, 89999644]]
ENST00000555576 [[89989752, 89989866], [89998978, 89999087], [89999875, 89999986], [90004931, 90005169]] [[89989809, 89989866], [89998978, 89999087], [89999875, 89999986], [90004931, 90004948]]
ENST00000554336 [[89989761, 89989866], [89998978, 89999087], [89999875, 89999986], [90000131, 90000709]] [[89989809, 89989866], [89998978, 89999087], [89999875, 89999986], [90000131, 90000211]]
ENST00000555609 [[89989766, 89989866], [89998978, 89999087], [89999522, 89999775], [89999875, 89999986], [90001136, 90002418]] [[89989809, 89989866], [89998978, 89999087], [89999522, 89999524]]
ENST00000553967 [[89989773, 89989866], [89998978, 89999087], [89999875, 90000409]] [[89989809, 89989866], [89998978, 89999087], [89999875, 90000204]]
ENST00000304984 [[89996842, 89999087], [89999875, 89999986], [90001136, 90002495]] [[89999925, 89999986], [90001136, 90002212]]
NM_001197181 [[89988416, 89988653], [89998978, 89999087], [89999875, 89999986], [90001136, 90002505]] [[89999925, 89999986], [90001136, 90002212]]
NM_006086 [[89989686, 89989866], [89998978, 89999087], [89999875, 89999986], [90001136, 90002505]] [[89989809, 89989866], [89998978, 89999087], [89999875, 89999986], [90001136, 90002212]]
Promoter
Chrom Start End Description
chr16 89988312 89988354 CAGE_peak_2_at_TUBB3_5end
chr16 89989741 89989759 CAGE_peak_1_at_TUBB3_5end
chr16 89999029 89999042 CAGE_peak_3_at_TUBB3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I089717 89717305 89724801 2.29 [{'connected_gene': 'VPS9D1', 'score': 569.94}, {'connected_gene': 'ZNF276', 'score': 555.17}, {'connected_gene': 'AFG3L1P', 'score': 35.64}, {'connected_gene': 'CDK10', 'score': 30.8}, {'connected_gene': 'LOC101927863', 'score': 27.91}, {'connected_gene': 'ENSG00000268218', 'score': 23.15}, {'connected_gene': 'ACSF3', 'score': 22.83}, {'connected_gene': 'ANKRD11', 'score': 20.7}, {'connected_gene': 'MC1R', 'score': 20.18}, {'connected_gene': 'TCF25', 'score': 19.67}, {'connected_gene': 'DBNDD1', 'score': 16.51}, {'connected_gene': 'VPS9D1-AS1', 'score': 15.54}, {'connected_gene': 'TUBB3', 'score': 13.87}, {'connected_gene': 'RPL13', 'score': 12.96}, {'connected_gene': 'SNORD68', 'score': 12.86}, {'connected_gene': 'FANCA', 'score': 11.28}, {'connected_gene': 'ENSG00000260279', 'score': 10.88}, {'connected_gene': 'GALNS', 'score': 7.03}, {'connected_gene': 'DEF8', 'score': 5.23}, {'connected_gene': 'ENSG00000259877', 'score': 4.33}]
chr16 GH16I089971 89971052 89975874 2.06 [{'connected_gene': 'CENPBD1', 'score': 562.12}, {'connected_gene': 'AFG3L1P', 'score': 560.77}, {'connected_gene': 'DEF8', 'score': 21.21}, {'connected_gene': 'ACSF3', 'score': 13.22}, {'connected_gene': 'ANKRD11', 'score': 12.97}, {'connected_gene': 'TUBB3', 'score': 12.25}, {'connected_gene': 'ENSG00000198211', 'score': 12.25}, {'connected_gene': 'ZNF778', 'score': 12.21}, {'connected_gene': 'URAHP', 'score': 11.15}, {'connected_gene': 'TCF25', 'score': 11.13}, {'connected_gene': 'ENSG00000268218', 'score': 10.71}, {'connected_gene': 'SNORD68', 'score': 10.67}, {'connected_gene': 'LOC101927863', 'score': 10.57}, {'connected_gene': 'MC1R', 'score': 10.43}, {'connected_gene': 'CHMP1A', 'score': 10.22}, {'connected_gene': 'CDK10', 'score': 9.61}, {'connected_gene': 'DBNDD1', 'score': 8.91}, {'connected_gene': 'GAS8', 'score': 7.13}, {'connected_gene': 'SPIRE2', 'score': 6.15}, {'connected_gene': 'RPL13', 'score': 4.63}, {'connected_gene': 'ENSG00000261317', 'score': 0.77}, {'connected_gene': 'PIR34106', 'score': 0.37}, {'connected_gene': 'GC16P089993', 'score': 0.37}]
chr16 GH16I089832 89832519 89839078 1.71 [{'connected_gene': 'CDK10', 'score': 25.41}, {'connected_gene': 'SPIRE2', 'score': 18.8}, {'connected_gene': 'ACSF3', 'score': 16.23}, {'connected_gene': 'TUBB3', 'score': 14.51}, {'connected_gene': 'GALNS', 'score': 13.07}, {'connected_gene': 'VPS9D1', 'score': 11.84}, {'connected_gene': 'ZNF276', 'score': 11.83}, {'connected_gene': 'ANKRD11', 'score': 11.82}, {'connected_gene': 'SNORD68', 'score': 11.67}, {'connected_gene': 'FANCA', 'score': 5.4}, {'connected_gene': 'RPL13', 'score': 4.68}, {'connected_gene': 'MC1R', 'score': 3.53}, {'connected_gene': 'LOC105371419', 'score': 0.37}]
chr16 GH16I089862 89862809 89865649 1.09 [{'connected_gene': 'CDK10', 'score': 28.33}, {'connected_gene': 'SPIRE2', 'score': 17.28}, {'connected_gene': 'TUBB3', 'score': 14.86}, {'connected_gene': 'TCF25', 'score': 0.44}, {'connected_gene': 'LOC105371419', 'score': 0.44}]
chr16 GH16I089631 89630834 89633800 1.05 [{'connected_gene': 'CDK10', 'score': 32.84}, {'connected_gene': 'CHMP1A', 'score': 12.0}, {'connected_gene': 'TUBB3', 'score': 7.1}, {'connected_gene': 'RPL13', 'score': 5.42}, {'connected_gene': 'GALNS', 'score': 5.41}, {'connected_gene': 'PIR44959', 'score': 0.39}, {'connected_gene': 'DPEP1', 'score': 0.37}]
chr16 GH16I089593 89593683 89594581 0.31 [{'connected_gene': 'CDK10', 'score': 18.42}, {'connected_gene': 'TUBB3', 'score': 10.71}, {'connected_gene': 'LINC02193', 'score': 4.35}, {'connected_gene': 'PIR32438', 'score': 0.37}, {'connected_gene': 'CPNE7', 'score': 0.37}]
chr16 GH16I089925 89925193 89926602 1.14 [{'connected_gene': 'CDK10', 'score': 24.27}, {'connected_gene': 'TUBB3', 'score': 19.23}, {'connected_gene': 'ENSG00000259006', 'score': 0.77}, {'connected_gene': 'ENSG00000198211', 'score': 0.44}, {'connected_gene': 'GC16P089938', 'score': 0.39}]
chr16 GH16I089850 89850087 89850834 0.31 [{'connected_gene': 'SPIRE2', 'score': 17.54}, {'connected_gene': 'TUBB3', 'score': 15.0}, {'connected_gene': 'LOC105371419', 'score': 0.77}]
chr16 GH16I090018 90018453 90023757 2.3 [{'connected_gene': 'DBNDD1', 'score': 573.41}, {'connected_gene': 'GAS8', 'score': 566.35}, {'connected_gene': 'DEF8', 'score': 17.26}, {'connected_gene': 'PRDM7', 'score': 16.44}, {'connected_gene': 'ACSF3', 'score': 13.24}, {'connected_gene': 'ANKRD11', 'score': 11.79}, {'connected_gene': 'SNORD68', 'score': 11.66}, {'connected_gene': 'URAHP', 'score': 9.95}, {'connected_gene': 'GAS8-AS1', 'score': 5.97}, {'connected_gene': 'TUBB3', 'score': 1.46}]
chr16 GH16I089623 89623325 89624113 0.57 [{'connected_gene': 'DBNDD1', 'score': 13.89}, {'connected_gene': 'TUBB3', 'score': 8.41}, {'connected_gene': 'DPEP1', 'score': 0.39}, {'connected_gene': 'PIR44959', 'score': 0.34}]
chr16 GH16I089931 89931567 89933102 0.46 [{'connected_gene': 'DEF8', 'score': 23.73}, {'connected_gene': 'CENPBD1', 'score': 13.32}, {'connected_gene': 'AFG3L1P', 'score': 13.32}, {'connected_gene': 'CDK10', 'score': 10.97}, {'connected_gene': 'MC1R', 'score': 4.21}, {'connected_gene': 'ENSG00000259006', 'score': 0.44}, {'connected_gene': 'GC16P089938', 'score': 0.44}, {'connected_gene': 'TUBB3', 'score': 0.39}, {'connected_gene': 'ENSG00000198211', 'score': 0.39}]
chr16 GH16I090008 90008201 90009600 0.89 [{'connected_gene': 'DEF8', 'score': 19.24}, {'connected_gene': 'DBNDD1', 'score': 16.53}, {'connected_gene': 'URAHP', 'score': 12.04}, {'connected_gene': 'TUBB3', 'score': 11.8}, {'connected_gene': 'ENSG00000198211', 'score': 11.8}, {'connected_gene': 'VPS9D1-AS1', 'score': 5.08}, {'connected_gene': 'PIR44838', 'score': 0.39}, {'connected_gene': 'GAS8', 'score': 0.39}]
chr16 GH16I089909 89909813 89911042 1.04 [{'connected_gene': 'MC1R', 'score': 550.77}, {'connected_gene': 'TUBB3', 'score': 15.88}, {'connected_gene': 'ENSG00000267048', 'score': 0.77}, {'connected_gene': 'TCF25', 'score': 0.28}]
chr16 GH16I089912 89912628 89914541 0.67 [{'connected_gene': 'MC1R', 'score': 574.45}, {'connected_gene': 'TUBB3', 'score': 18.02}, {'connected_gene': 'ENSG00000267048', 'score': 0.44}, {'connected_gene': 'ENSG00000198211', 'score': 0.44}, {'connected_gene': 'TCF25', 'score': 0.26}]
chr16 GH16I089313 89313322 89327885 2.44 [{'connected_gene': 'ANKRD11', 'score': 556.99}, {'connected_gene': 'LOC100287036', 'score': 556.62}, {'connected_gene': 'ZC3H18', 'score': 10.4}, {'connected_gene': 'CDK10', 'score': 8.76}, {'connected_gene': 'DBNDD1', 'score': 7.22}, {'connected_gene': 'ZNF276', 'score': 7.15}, {'connected_gene': 'SPG7', 'score': 6.54}, {'connected_gene': 'SNAI3', 'score': 5.95}, {'connected_gene': 'GAS8-AS1', 'score': 5.54}, {'connected_gene': 'TUBB3', 'score': 4.69}, {'connected_gene': 'RPL13', 'score': 4.59}, {'connected_gene': 'SLC22A31', 'score': 4.57}, {'connected_gene': 'SPATA2L', 'score': 2.35}, {'connected_gene': 'ZNF778', 'score': 2.13}, {'connected_gene': 'VPS9D1', 'score': 1.77}, {'connected_gene': 'ENSG00000260279', 'score': 0.34}]
chr16 GH16I089297 89297417 89304190 1.16 [{'connected_gene': 'LINC00304', 'score': 6.44}, {'connected_gene': 'TUBB3', 'score': 6.33}, {'connected_gene': 'ACSF3', 'score': 6.31}, {'connected_gene': 'ENSG00000260279', 'score': 6.16}, {'connected_gene': 'ANKRD11', 'score': 5.64}, {'connected_gene': 'RPL13', 'score': 5.16}, {'connected_gene': 'ENSG00000259877', 'score': 4.72}, {'connected_gene': 'CPNE7', 'score': 4.44}, {'connected_gene': 'LOC105371414', 'score': 0.77}, {'connected_gene': 'LOC100287036', 'score': 0.34}]
chr16 GH16I089871 89871819 89875221 2.07 [{'connected_gene': 'TCF25', 'score': 560.49}, {'connected_gene': 'TUBB3', 'score': 18.67}, {'connected_gene': 'ENSG00000259877', 'score': 17.19}, {'connected_gene': 'MC1R', 'score': 15.2}, {'connected_gene': 'AFG3L1P', 'score': 11.27}, {'connected_gene': 'GAS8', 'score': 10.59}, {'connected_gene': 'SPIRE2', 'score': 10.57}, {'connected_gene': 'VPS9D1', 'score': 5.72}, {'connected_gene': 'LOC105371419', 'score': 0.37}]
chr16 GH16I089112 89112781 89124096 1.68 [{'connected_gene': 'ACSF3', 'score': 38.68}, {'connected_gene': 'TRAPPC2L', 'score': 12.15}, {'connected_gene': 'GALNS', 'score': 12.15}, {'connected_gene': 'RNF166', 'score': 8.81}, {'connected_gene': 'TUBB3', 'score': 7.43}, {'connected_gene': 'CYBA', 'score': 6.44}, {'connected_gene': 'SNAI3', 'score': 5.89}, {'connected_gene': 'ENSG00000259877', 'score': 5.83}, {'connected_gene': 'ENSG00000260279', 'score': 5.23}, {'connected_gene': 'SLC22A31', 'score': 5.21}, {'connected_gene': 'RPL13', 'score': 2.87}, {'connected_gene': 'CBFA2T3', 'score': 2.72}, {'connected_gene': 'ENSG00000261546', 'score': 0.77}, {'connected_gene': 'GC16P089147', 'score': 0.31}]
chr16 GH16I089440 89440002 89445763 1.51 [{'connected_gene': 'RNU6-430P', 'score': 550.77}, {'connected_gene': 'GC16P089443', 'score': 550.77}, {'connected_gene': 'DBNDD1', 'score': 14.55}, {'connected_gene': 'SPG7', 'score': 11.27}, {'connected_gene': 'RPL13', 'score': 11.04}, {'connected_gene': 'ZNF778', 'score': 4.96}, {'connected_gene': 'TUBB3', 'score': 4.81}, {'connected_gene': 'DEF8', 'score': 4.31}, {'connected_gene': 'LOC101927817', 'score': 0.39}, {'connected_gene': 'ANKRD11', 'score': 0.25}]
chr16 GH16I089914 89914833 89915776 0.86 [{'connected_gene': 'TUBB3', 'score': 18.87}, {'connected_gene': 'SNORD68', 'score': 13.62}, {'connected_gene': 'ACSF3', 'score': 13.33}, {'connected_gene': 'RPL13', 'score': 13.32}, {'connected_gene': 'ANKRD11', 'score': 9.78}, {'connected_gene': 'CHMP1A', 'score': 4.95}, {'connected_gene': 'ENSG00000198211', 'score': 0.77}, {'connected_gene': 'MC1R', 'score': 0.77}, {'connected_gene': 'ENSG00000267048', 'score': 0.44}]
chr16 GH16I089907 89907858 89908927 0.66 [{'connected_gene': 'TUBB3', 'score': 19.62}, {'connected_gene': 'MC1R', 'score': 12.67}, {'connected_gene': 'AFG3L1P', 'score': 12.05}, {'connected_gene': 'SPG7', 'score': 10.78}, {'connected_gene': 'ENSG00000267048', 'score': 0.77}, {'connected_gene': 'TCF25', 'score': 0.29}]
chr16 GH16I089920 89920191 89924356 2.24 [{'connected_gene': 'TUBB3', 'score': 567.37}, {'connected_gene': 'ENSG00000259006', 'score': 550.77}, {'connected_gene': 'ANKRD11', 'score': 30.81}, {'connected_gene': 'SNORD68', 'score': 23.58}, {'connected_gene': 'ACSF3', 'score': 22.32}, {'connected_gene': 'RPL13', 'score': 22.19}, {'connected_gene': 'TCF25', 'score': 19.98}, {'connected_gene': 'ENSG00000268218', 'score': 11.96}, {'connected_gene': 'ENSG00000259877', 'score': 11.28}, {'connected_gene': 'AFG3L1P', 'score': 11.11}, {'connected_gene': 'LOC101927863', 'score': 10.57}, {'connected_gene': 'CHMP1A', 'score': 10.23}, {'connected_gene': 'LINC00304', 'score': 9.7}, {'connected_gene': 'ENSG00000198211', 'score': 0.77}, {'connected_gene': 'MC1R', 'score': 0.39}]
chr16 GH16I089890 89890433 89891194 0.2 [{'connected_gene': 'TUBB3', 'score': 28.64}, {'connected_gene': 'ENSG00000198211', 'score': 13.07}, {'connected_gene': 'FANCA', 'score': 12.09}, {'connected_gene': 'VPS9D1', 'score': 11.27}, {'connected_gene': 'ZNF276', 'score': 11.26}, {'connected_gene': 'URAHP', 'score': 9.88}, {'connected_gene': 'GC16P089898', 'score': 0.44}, {'connected_gene': 'PIR49126', 'score': 0.44}, {'connected_gene': 'TCF25', 'score': 0.37}]
chr16 GH16I089622 89622113 89622262 0.43 [{'connected_gene': 'TUBB3', 'score': 8.63}, {'connected_gene': 'DPEP1', 'score': 0.44}, {'connected_gene': 'PIR44959', 'score': 0.34}]
chr16 GH16I089601 89601857 89603400 1.01 [{'connected_gene': 'LOC101927863', 'score': 15.13}, {'connected_gene': 'MC1R', 'score': 12.92}, {'connected_gene': 'CDK10', 'score': 12.78}, {'connected_gene': 'ENSG00000259877', 'score': 12.51}, {'connected_gene': 'AFG3L1P', 'score': 12.1}, {'connected_gene': 'DBNDD1', 'score': 10.57}, {'connected_gene': 'TUBB3', 'score': 7.8}, {'connected_gene': 'LINC02138', 'score': 4.73}, {'connected_gene': 'PIR32438', 'score': 0.39}, {'connected_gene': 'CPNE7', 'score': 0.31}]
chr16 GH16I089711 89711110 89713111 1.35 [{'connected_gene': 'VPS9D1-AS1', 'score': 550.77}, {'connected_gene': 'CDK10', 'score': 27.89}, {'connected_gene': 'TUBB3', 'score': 12.15}, {'connected_gene': 'GALNS', 'score': 4.99}, {'connected_gene': 'CENPBD1', 'score': 4.6}, {'connected_gene': 'VPS9D1', 'score': 0.44}, {'connected_gene': 'ZNF276', 'score': 0.44}]
chr16 GH16I089924 89924430 89924702 0.9 [{'connected_gene': 'ENSG00000259006', 'score': 550.77}, {'connected_gene': 'CDK10', 'score': 44.33}, {'connected_gene': 'TUBB3', 'score': 0.77}, {'connected_gene': 'ENSG00000198211', 'score': 0.44}, {'connected_gene': 'GC16P089938', 'score': 0.39}]
chr16 GH16I089903 89903922 89905420 0.69 [{'connected_gene': 'ENSG00000267048', 'score': 550.77}, {'connected_gene': 'TUBB3', 'score': 18.91}, {'connected_gene': 'DEF8', 'score': 4.21}, {'connected_gene': 'GC16P089898', 'score': 0.44}, {'connected_gene': 'PIR49126', 'score': 0.44}, {'connected_gene': 'TCF25', 'score': 0.29}]
chr16 GH16I089905 89905556 89907110 0.43 [{'connected_gene': 'ENSG00000267048', 'score': 550.77}, {'connected_gene': 'TUBB3', 'score': 19.84}, {'connected_gene': 'MC1R', 'score': 0.44}, {'connected_gene': 'TCF25', 'score': 0.29}]
chr16 GH16I089981 89981433 89981582 0.49 [{'connected_gene': 'ENSG00000198211', 'score': 12.23}, {'connected_gene': 'TUBB3', 'score': 12.23}, {'connected_gene': 'URAHP', 'score': 11.16}, {'connected_gene': 'CENPBD1', 'score': 0.44}, {'connected_gene': 'AFG3L1P', 'score': 0.44}, {'connected_gene': 'GC16P089993', 'score': 0.39}, {'connected_gene': 'PIR34106', 'score': 0.39}]

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