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
ENST00000367630 [[142468366, 142468536], [142487364, 142487459], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142525121, 142525202], [142539634, 142545826]] [[142468424, 142468536], [142487364, 142487459], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142525121, 142525202], [142539634, 142539780]]
ENST00000367621 [[142468393, 142468536], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142525121, 142525202], [142539634, 142540204]] [[142468503, 142468536], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142525121, 142525202], [142539634, 142539780]]
ENST00000452973 [[142468397, 142468536], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142539634, 142540388]] [[142468503, 142468536], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142539634, 142539780]]
ENST00000491881 [[142491482, 142491558], [142510562, 142510671], [142519575, 142519918]] None
NM_001286372 [[142468298, 142468536], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142539634, 142542085]] [[142468503, 142468536], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142539634, 142539780]]
NM_001286371 [[142468298, 142468536], [142487364, 142487459], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142539634, 142542085]] [[142468424, 142468536], [142487364, 142487459], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142539634, 142539780]]
NM_016485 [[142468298, 142468536], [142487364, 142487459], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142525121, 142525202], [142539634, 142542085]] [[142468424, 142468536], [142487364, 142487459], [142490686, 142490814], [142491482, 142491558], [142510562, 142510671], [142519575, 142519752], [142525121, 142525202], [142539634, 142539780]]
Promoter
Chrom Start End Description
chr6 142468361 142468382 CAGE_peak_2_at_VTA1_5end
chr6 142468383 142468421 CAGE_peak_1_at_VTA1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I031645 31645223 31649279 1.61 [{'connected_gene': 'SFI1', 'score': 11.06}, {'connected_gene': 'EIF4ENIF1', 'score': 10.65}, {'connected_gene': 'ENSG00000240591', 'score': 10.19}, {'connected_gene': 'DRG1', 'score': 10.07}, {'connected_gene': 'PISD', 'score': 7.64}, {'connected_gene': 'RNF185', 'score': 6.79}, {'connected_gene': 'PIK3IP1', 'score': 6.04}, {'connected_gene': 'LIMK2', 'score': 1.14}, {'connected_gene': 'MIR7109', 'score': 0.31}]
chr22 GH22I031488 31488139 31492581 2.06 [{'connected_gene': 'SFI1', 'score': 565.37}, {'connected_gene': 'EIF4ENIF1', 'score': 550.44}, {'connected_gene': 'DRG1', 'score': 0.16}]
chr22 GH22I031493 31493377 31498020 2.21 [{'connected_gene': 'SFI1', 'score': 567.31}, {'connected_gene': 'EIF4ENIF1', 'score': 550.77}, {'connected_gene': 'PIK3IP1', 'score': 5.96}, {'connected_gene': 'PISD', 'score': 4.7}, {'connected_gene': 'DRG1', 'score': 0.15}]
chr22 GH22I031328 31328856 31329844 0.58 [{'connected_gene': 'SFI1', 'score': 13.7}, {'connected_gene': 'DRG1', 'score': 10.59}, {'connected_gene': 'RNU6-1128P', 'score': 10.04}, {'connected_gene': 'SELENOM', 'score': 9.54}, {'connected_gene': 'INPP5J', 'score': 9.53}, {'connected_gene': 'PIK3IP1', 'score': 5.85}, {'connected_gene': 'PIR41427', 'score': 0.44}, {'connected_gene': 'PATZ1', 'score': 0.37}, {'connected_gene': 'GC22M031305', 'score': 0.34}, {'connected_gene': 'PIK3IP1-AS1', 'score': 0.28}]
chr22 GH22I031529 31529659 31533394 1 [{'connected_gene': 'SFI1', 'score': 6.71}, {'connected_gene': 'PISD', 'score': 5.7}, {'connected_gene': 'PIK3IP1', 'score': 5.39}, {'connected_gene': 'ENSG00000229169', 'score': 0.44}, {'connected_gene': 'H2AFZP6', 'score': 0.44}, {'connected_gene': 'DRG1', 'score': 0.12}]
chr22 GH22I031447 31447866 31448675 0.2 [{'connected_gene': 'SFI1', 'score': 15.19}, {'connected_gene': 'PIK3IP1', 'score': 5.88}, {'connected_gene': 'ENSG00000240591', 'score': 0.44}, {'connected_gene': 'GC22P031435', 'score': 0.39}, {'connected_gene': 'EIF4ENIF1', 'score': 0.25}, {'connected_gene': 'DRG1', 'score': 0.25}]
chr6 GH06I142388 142388201 142388600 1.16 [{'connected_gene': 'ADGRG6', 'score': 15.76}, {'connected_gene': 'VTA1', 'score': 10.75}, {'connected_gene': 'GC06M142363', 'score': 0.34}, {'connected_gene': 'LOC153910', 'score': 0.07}]
chr6 GH06I142380 142380283 142383885 0.72 [{'connected_gene': 'ADGRG6', 'score': 18.71}, {'connected_gene': 'VTA1', 'score': 10.99}, {'connected_gene': 'GC06M142363', 'score': 0.37}, {'connected_gene': 'LOC153910', 'score': 0.07}]
chr6 GH06I142399 142399749 142402464 1.27 [{'connected_gene': 'ADGRG6', 'score': 14.97}, {'connected_gene': 'VTA1', 'score': 10.06}, {'connected_gene': 'GC06M142363', 'score': 0.28}, {'connected_gene': 'LOC153910', 'score': 0.07}]
chr6 GH06I142395 142395224 142396388 0.88 [{'connected_gene': 'ADGRG6', 'score': 10.58}, {'connected_gene': 'VTA1', 'score': 10.06}, {'connected_gene': 'GC06M142363', 'score': 0.29}, {'connected_gene': 'LOC153910', 'score': 0.07}]
chr6 GH06I142389 142389010 142389837 0.2 [{'connected_gene': 'ADGRG6', 'score': 11.34}, {'connected_gene': 'VTA1', 'score': 10.84}, {'connected_gene': 'GC06M142363', 'score': 0.34}, {'connected_gene': 'LOC153910', 'score': 0.07}]
chr6 GH06I142235 142235217 142236771 0.31 [{'connected_gene': 'ADGRG6', 'score': 11.3}, {'connected_gene': 'VTA1', 'score': 10.73}, {'connected_gene': 'GC06P142232', 'score': 0.77}, {'connected_gene': 'GC06P142257', 'score': 0.34}]
chr6 GH06I142236 142236784 142236933 0.2 [{'connected_gene': 'ADGRG6', 'score': 11.3}, {'connected_gene': 'VTA1', 'score': 10.73}, {'connected_gene': 'GC06P142232', 'score': 0.77}, {'connected_gene': 'GC06P142257', 'score': 0.34}]
chr6 GH06I142187 142187384 142187533 0.76 [{'connected_gene': 'ADGRG6', 'score': 10.0}, {'connected_gene': 'GC06P142170', 'score': 0.37}, {'connected_gene': 'VTA1', 'score': 0.26}, {'connected_gene': 'GC06P142232', 'score': 0.26}]
chr22 GH22I031504 31504435 31504584 0.2 [{'connected_gene': 'EIF4ENIF1', 'score': 0.44}, {'connected_gene': 'H2AFZP6', 'score': 0.37}, {'connected_gene': 'SFI1', 'score': 0.37}, {'connected_gene': 'DRG1', 'score': 0.15}]
chr22 GH22I031350 31350595 31350744 0.8 [{'connected_gene': 'DRG1', 'score': 10.96}, {'connected_gene': 'SFI1', 'score': 9.52}, {'connected_gene': 'LINC01521', 'score': 0.77}, {'connected_gene': 'RNU6-338P', 'score': 0.28}, {'connected_gene': 'GC22M031389', 'score': 0.28}]
chr22 GH22I031397 31397814 31401144 2.04 [{'connected_gene': 'DRG1', 'score': 550.77}, {'connected_gene': 'SFI1', 'score': 11.19}, {'connected_gene': 'PATZ1', 'score': 11.17}, {'connected_gene': 'LINC01521', 'score': 11.17}, {'connected_gene': 'ENSG00000240591', 'score': 10.75}, {'connected_gene': 'EIF4ENIF1', 'score': 10.67}, {'connected_gene': 'PIK3IP1', 'score': 5.04}, {'connected_gene': 'PIR44980', 'score': 0.77}]
chr22 GH22I031337 31337125 31337887 0.38 [{'connected_gene': 'DRG1', 'score': 10.87}, {'connected_gene': 'PIR42273', 'score': 0.77}, {'connected_gene': 'PIR41427', 'score': 0.77}, {'connected_gene': 'PATZ1', 'score': 0.44}, {'connected_gene': 'PIK3IP1-AS1', 'score': 0.25}]
chr22 GH22I031339 31339189 31339984 0.99 [{'connected_gene': 'DRG1', 'score': 10.88}, {'connected_gene': 'PIR42273', 'score': 0.77}, {'connected_gene': 'PIR41427', 'score': 0.77}, {'connected_gene': 'PATZ1', 'score': 0.44}]
chr6 GH06I141969 141969365 141969458 0.49 [{'connected_gene': 'VTA1', 'score': 1.33}, {'connected_gene': 'GC06P141986', 'score': 0.37}, {'connected_gene': 'GC06M141923', 'score': 0.26}, {'connected_gene': 'LOC105378031', 'score': 0.21}]
chr6 GH06I141770 141770154 141770362 0.22 [{'connected_gene': 'VTA1', 'score': 1.48}, {'connected_gene': 'LOC105378030', 'score': 0.31}, {'connected_gene': 'GC06M141661', 'score': 0.14}, {'connected_gene': 'GC06M141662', 'score': 0.14}]
chr6 GH06I142207 142207484 142207673 0.69 [{'connected_gene': 'VTA1', 'score': 11.45}, {'connected_gene': 'GC06P142232', 'score': 0.34}, {'connected_gene': 'GC06P142170', 'score': 0.28}]
chr6 GH06I142155 142155154 142156734 0.79 [{'connected_gene': 'NMBR', 'score': 10.34}, {'connected_gene': 'VTA1', 'score': 0.44}, {'connected_gene': 'GC06P142170', 'score': 0.39}]
chr6 GH06I142146 142146318 142148285 2.12 [{'connected_gene': 'NMBR', 'score': 560.68}, {'connected_gene': 'VTA1', 'score': 550.77}, {'connected_gene': 'GC06P142170', 'score': 0.34}]
chr22 GH22I031649 31649753 31654851 1.16 [{'connected_gene': 'PRR14L', 'score': 10.94}, {'connected_gene': 'DEPDC5', 'score': 10.93}, {'connected_gene': 'EIF4ENIF1', 'score': 10.65}, {'connected_gene': 'ENSG00000240591', 'score': 10.19}, {'connected_gene': 'DRG1', 'score': 10.07}, {'connected_gene': 'SFI1', 'score': 8.52}, {'connected_gene': 'PIK3IP1', 'score': 7.45}, {'connected_gene': 'PISD', 'score': 0.39}, {'connected_gene': 'MIR7109', 'score': 0.29}]
chr22 GH22I031458 31458931 31458947 0.23 [{'connected_gene': 'RNU6-28P', 'score': 11.8}, {'connected_gene': 'SFI1', 'score': 11.77}, {'connected_gene': 'EIF4ENIF1', 'score': 11.73}, {'connected_gene': 'ENSG00000240591', 'score': 0.77}, {'connected_gene': 'GC22M031482', 'score': 0.34}, {'connected_gene': 'DRG1', 'score': 0.22}]
chr22 GH22I031477 31477086 31478328 0.54 [{'connected_gene': 'GC22M031482', 'score': 550.77}, {'connected_gene': 'RNU6-28P', 'score': 550.77}, {'connected_gene': 'SFI1', 'score': 14.11}, {'connected_gene': 'PIK3IP1', 'score': 4.15}, {'connected_gene': 'EIF4ENIF1', 'score': 0.37}, {'connected_gene': 'ENSG00000240591', 'score': 0.34}, {'connected_gene': 'DRG1', 'score': 0.18}]
chr22 GH22I031474 31474835 31475004 0.2 [{'connected_gene': 'GC22M031482', 'score': 0.77}, {'connected_gene': 'RNU6-28P', 'score': 0.77}, {'connected_gene': 'EIF4ENIF1', 'score': 0.34}, {'connected_gene': 'ENSG00000240591', 'score': 0.34}, {'connected_gene': 'DRG1', 'score': 0.18}]