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
ENST00000457913 [[109625377, 109625636], [109685634, 109685884], [109686413, 109692040], [109692805, 109692970], [109694546, 109694830], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109773763]] [[109685664, 109685884], [109686413, 109692040], [109692805, 109692970], [109694546, 109694830], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109773311]]
ENST00000277225 [[109625377, 109625636], [109685634, 109685884], [109686413, 109692040], [109692805, 109692970], [109694726, 109694830], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109775915]] [[109685664, 109685884], [109686413, 109692040], [109692805, 109692970], [109694726, 109694830], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109773311]]
ENST00000374686 [[109689544, 109692040], [109692805, 109692970], [109694546, 109694830], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109773789]] [[109689544, 109692040], [109692805, 109692970], [109694546, 109694830], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109773311]]
ENST00000441147 [[109689658, 109692040], [109692805, 109692970], [109694543, 109694830], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109773763]] [[109689658, 109692040], [109692805, 109692970], [109694543, 109694830], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109773311]]
ENST00000469433 [[109694888, 109695086], [109697783, 109697902], [109734285, 109734553], [109736417, 109736501]] None
ENST00000542028 [[109694913, 109695086], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109773504]] [[109697796, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109773311]]
ENST00000479166 [[109694917, 109695086], [109697783, 109697902], [109701196, 109701388], [109734285, 109734506]] None
ENST00000427098 [[109701257, 109701388], [109734285, 109734553], [109736417, 109737251]] [[109701257, 109701388], [109734285, 109734553], [109736417, 109736643]]
ENST00000472574 [[109625446, 109625636], [109685634, 109685884], [109686413, 109686473], [109692805, 109692856]] [[109685664, 109685884], [109686413, 109686473], [109692805, 109692856]]
ENST00000480607 [[109689205, 109689445], [109692805, 109692970], [109694726, 109694743]] None
ENST00000497489 [[109691960, 109692040], [109692805, 109692970], [109693125, 109693318], [109694546, 109694830], [109697783, 109697902]] None
ENST00000471032 [[109694901, 109695086], [109695455, 109695510], [109697783, 109697902], [109701196, 109701375]] None
ENST00000482115 [[109734422, 109734553], [109736417, 109736554], [109746466, 109746690], [109757800, 109757963]] None
ENST00000483287 [[109771469, 109771949], [109773103, 109773299]] None
NM_001347997 [[109625377, 109625636], [109685634, 109685884], [109686413, 109689445], [109692805, 109692970], [109694726, 109694830], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109775915]] [[109685664, 109685884], [109686413, 109689445], [109692805, 109692970], [109694726, 109694830], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109773311]]
NM_021224 [[109625377, 109625636], [109685634, 109685884], [109686413, 109692040], [109692805, 109692970], [109694726, 109694830], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109775915]] [[109685664, 109685884], [109686413, 109692040], [109692805, 109692970], [109694726, 109694830], [109697783, 109697902], [109701196, 109701388], [109734285, 109734553], [109736417, 109736554], [109746466, 109746690], [109765574, 109765707], [109771825, 109771949], [109773103, 109773311]]
Promoter
Chrom Start End Description
chr9 109625229 109625282 CAGE_peak_2_at_ZNF462_5end
chr9 109625401 109625458 CAGE_peak_1_at_ZNF462_5end
chr9 109694899 109694904 CAGE_peak_16_at_ZNF462_5end
chr9 109694916 109694927 CAGE_peak_13_at_ZNF462_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I106914 106914606 106923574 1.7 [{'connected_gene': 'ZNF462', 'score': 15.97}, {'connected_gene': 'GC09P106921', 'score': 0.77}, {'connected_gene': 'LOC105376204', 'score': 0.22}]
chr9 GH09I106874 106874740 106874869 0.52 [{'connected_gene': 'ZNF462', 'score': 0.39}, {'connected_gene': 'LOC105376204', 'score': 0.39}, {'connected_gene': 'GC09P106921', 'score': 0.25}]
chr9 GH09I106888 106888372 106894449 1.47 [{'connected_gene': 'ZNF462', 'score': 23.61}, {'connected_gene': 'GC09P106921', 'score': 0.29}, {'connected_gene': 'LOC105376204', 'score': 0.29}]
chr9 GH09I106876 106876843 106882883 1.04 [{'connected_gene': 'ZNF462', 'score': 16.58}, {'connected_gene': 'LOC105376204', 'score': 0.37}, {'connected_gene': 'GC09P106921', 'score': 0.26}]
chr9 GH09I106868 106868600 106869729 1.03 [{'connected_gene': 'ZNF462', 'score': 0.44}, {'connected_gene': 'LOC105376204', 'score': 0.44}, {'connected_gene': 'GC09P106921', 'score': 0.23}]
chr9 GH09I106884 106884029 106887572 1.11 [{'connected_gene': 'ZNF462', 'score': 23.97}, {'connected_gene': 'LOC105376204', 'score': 0.34}, {'connected_gene': 'GC09P106921', 'score': 0.28}]
chr9 GH09I106906 106906272 106907727 0.31 [{'connected_gene': 'ZNF462', 'score': 6.84}, {'connected_gene': 'GC09P106921', 'score': 0.39}, {'connected_gene': 'LOC105376204', 'score': 0.25}]
chr9 GH09I106866 106866380 106866528 0.68 [{'connected_gene': 'ZNF462', 'score': 0.44}, {'connected_gene': 'LOC105376204', 'score': 0.44}, {'connected_gene': 'GC09P106921', 'score': 0.22}]
chr9 GH09I106875 106874201 106874601 0.46 [{'connected_gene': 'ZNF462', 'score': 0.39}, {'connected_gene': 'LOC105376204', 'score': 0.39}, {'connected_gene': 'GC09P106921', 'score': 0.25}]
chr9 GH09I106877 106876401 106876600 0.2 [{'connected_gene': 'ZNF462', 'score': 0.37}, {'connected_gene': 'LOC105376204', 'score': 0.37}, {'connected_gene': 'GC09P106921', 'score': 0.26}]
chr9 GH09I106859 106859432 106865591 2.42 [{'connected_gene': 'ZNF462', 'score': 571.14}, {'connected_gene': 'LOC105376204', 'score': 550.77}, {'connected_gene': 'GC09P106921', 'score': 0.22}]
chr9 GH09I106643 106643380 106643399 0.46 [{'connected_gene': 'ZNF462', 'score': 10.32}, {'connected_gene': 'GC09P106637', 'score': 0.44}, {'connected_gene': 'LINC01505', 'score': 0.31}, {'connected_gene': 'GC09P106680', 'score': 0.28}]
chr9 GH09I106797 106797440 106800387 0.67 [{'connected_gene': 'ZNF462', 'score': 17.48}, {'connected_gene': 'RNA5SP292', 'score': 0.26}, {'connected_gene': 'LOC100288437', 'score': 0.18}]
chr9 GH09I106793 106793837 106794860 0.72 [{'connected_gene': 'ZNF462', 'score': 18.2}, {'connected_gene': 'RNA5SP292', 'score': 0.25}, {'connected_gene': 'LOC100288437', 'score': 0.19}]
chr9 GH09I106830 106830086 106831409 0.31 [{'connected_gene': 'ZNF462', 'score': 13.8}, {'connected_gene': 'RNA5SP292', 'score': 0.39}, {'connected_gene': 'LOC100288437', 'score': 0.14}]
chr9 GH09I106717 106717349 106719936 0.43 [{'connected_gene': 'ZNF462', 'score': 15.37}, {'connected_gene': 'LOC100288437', 'score': 0.77}, {'connected_gene': 'RN7SKP77', 'score': 0.28}]
chr9 GH09I106752 106752215 106753671 0.77 [{'connected_gene': 'ZNF462', 'score': 10.82}, {'connected_gene': 'LOC100288437', 'score': 0.29}, {'connected_gene': 'RNA5SP292', 'score': 0.16}]
chr9 GH09I107019 107019141 107020632 0.8 [{'connected_gene': 'ZNF462', 'score': 25.33}, {'connected_gene': 'RPL7AP44', 'score': 0.26}, {'connected_gene': 'LOC340512', 'score': 0.18}]
chr9 GH09I106956 106956647 106957429 0.31 [{'connected_gene': 'ZNF462', 'score': 10.77}, {'connected_gene': 'RPL7AP44', 'score': 0.34}, {'connected_gene': 'GC09P106921', 'score': 0.28}]
chr9 GH09I106969 106969802 106971333 0.43 [{'connected_gene': 'ZNF462', 'score': 21.04}, {'connected_gene': 'RPL7AP44', 'score': 0.44}, {'connected_gene': 'GC09P106921', 'score': 0.25}]
chr9 GH09I106929 106929009 106930229 0.2 [{'connected_gene': 'ZNF462', 'score': 8.07}, {'connected_gene': 'GC09P106921', 'score': 0.44}, {'connected_gene': 'RPL7AP44', 'score': 0.25}]
chr9 GH09I106961 106961660 106964389 0.89 [{'connected_gene': 'ZNF462', 'score': 19.34}, {'connected_gene': 'RPL7AP44', 'score': 0.37}, {'connected_gene': 'GC09P106921', 'score': 0.26}]
chr9 GH09I106945 106945639 106947909 0.69 [{'connected_gene': 'ZNF462', 'score': 10.97}, {'connected_gene': 'GC09P106921', 'score': 0.31}, {'connected_gene': 'RPL7AP44', 'score': 0.29}]
chr9 GH09I106958 106958171 106959002 0.31 [{'connected_gene': 'ZNF462', 'score': 19.11}, {'connected_gene': 'RPL7AP44', 'score': 0.34}, {'connected_gene': 'GC09P106921', 'score': 0.28}]
chr9 GH09I106964 106964440 106964589 0.63 [{'connected_gene': 'ZNF462', 'score': 10.66}, {'connected_gene': 'RPL7AP44', 'score': 0.37}, {'connected_gene': 'GC09P106921', 'score': 0.26}]
chr9 GH09I106870 106870533 106871219 0.2 [{'connected_gene': 'LOC105376204', 'score': 0.44}, {'connected_gene': 'ZNF462', 'score': 0.39}, {'connected_gene': 'GC09P106921', 'score': 0.23}]
chr9 GH09I106957 106955936 106956029 0.2 [{'connected_gene': 'RPL7AP44', 'score': 0.34}, {'connected_gene': 'GC09P106921', 'score': 0.29}, {'connected_gene': 'ZNF462', 'score': 0.15}]
chr9 GH09I106954 106954681 106955377 0.49 [{'connected_gene': 'RPL7AP44', 'score': 0.34}, {'connected_gene': 'GC09P106921', 'score': 0.29}, {'connected_gene': 'ZNF462', 'score': 0.16}]
chr9 GH09I106952 106952471 106954088 0.68 [{'connected_gene': 'RPL7AP44', 'score': 0.31}, {'connected_gene': 'GC09P106921', 'score': 0.29}, {'connected_gene': 'ZNF462', 'score': 0.16}]
chr9 GH09I106955 106955880 106955909 0.2 [{'connected_gene': 'RPL7AP44', 'score': 0.34}, {'connected_gene': 'GC09P106921', 'score': 0.29}, {'connected_gene': 'ZNF462', 'score': 0.15}]
chr9 GH09I106897 106897282 106898000 0.78 [{'connected_gene': 'GC09P106921', 'score': 0.34}, {'connected_gene': 'ZNF462', 'score': 0.28}, {'connected_gene': 'LOC105376204', 'score': 0.28}]
chr9 GH09I106931 106931182 106932213 0.51 [{'connected_gene': 'GC09P106921', 'score': 0.39}, {'connected_gene': 'RPL7AP44', 'score': 0.25}, {'connected_gene': 'ZNF462', 'score': 0.19}]
chr9 GH09I106930 106930352 106930766 0.51 [{'connected_gene': 'GC09P106921', 'score': 0.44}, {'connected_gene': 'RPL7AP44', 'score': 0.25}, {'connected_gene': 'ZNF462', 'score': 0.19}]