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
ENST00000263461 [[122610686, 122611018], [122612035, 122612147], [122618154, 122618308], [122619620, 122619794], [122622246, 122622433], [122624558, 122624724], [122625141, 122625256], [122626080, 122626276], [122626577, 122626681], [122630681, 122630858], [122633350, 122633435], [122637864, 122637971], [122640337, 122640413], [122643291, 122643400], [122645325, 122645450], [122646200, 122646348], [122648589, 122648696], [122649406, 122649521], [122650227, 122650399], [122659540, 122659649], [122660547, 122660610], [122661768, 122661834], [122662566, 122662744], [122663558, 122663654], [122664157, 122664323], [122664830, 122664928], [122665387, 122665533], [122666287, 122666367], [122668067, 122669036]] [[122610932, 122611018], [122612035, 122612147], [122618154, 122618308], [122619620, 122619794], [122622246, 122622433], [122624558, 122624724], [122625141, 122625256], [122626080, 122626276], [122626577, 122626681], [122630681, 122630858], [122633350, 122633435], [122637864, 122637971], [122640337, 122640413], [122643291, 122643400], [122645325, 122645450], [122646200, 122646348], [122648589, 122648696], [122649406, 122649521], [122650227, 122650399], [122659540, 122659649], [122660547, 122660610], [122661768, 122661834], [122662566, 122662744], [122663558, 122663654], [122664157, 122664323], [122664830, 122664928], [122665387, 122665533], [122666287, 122666367], [122668067, 122668225]]
ENST00000605202 [[122610816, 122611039], [122612035, 122612147], [122618154, 122618308], [122619620, 122619782]] None
ENST00000605543 [[122610873, 122611018], [122612035, 122612115], [122630746, 122630858], [122633350, 122633435], [122637864, 122637971], [122640337, 122640413], [122643291, 122643400], [122645325, 122645450], [122646200, 122646348], [122648589, 122648696], [122649406, 122649521], [122650227, 122650399], [122659540, 122659649], [122660547, 122660610], [122661768, 122661834], [122662566, 122662744], [122663558, 122663654], [122664157, 122664323], [122664830, 122664928], [122665387, 122665533], [122666287, 122666367], [122668067, 122668694]] [[122610932, 122611018], [122612035, 122612115], [122630746, 122630858], [122633350, 122633360]]
ENST00000605069 [[122610903, 122611018], [122618215, 122618308], [122619620, 122619794], [122622246, 122622422]] None
ENST00000605178 [[122610915, 122611039], [122612035, 122612147], [122618154, 122618308], [122622246, 122622421]] None
ENST00000604585 [[122610998, 122611103], [122612035, 122612147], [122615593, 122615642], [122618154, 122618308], [122619620, 122619794], [122622246, 122622433], [122624558, 122624724], [122625141, 122625256], [122626080, 122626276], [122626577, 122626681], [122630681, 122630858], [122633350, 122633435], [122637864, 122637971], [122640337, 122640387]] [[122624622, 122624724], [122625141, 122625256], [122626080, 122626276], [122626577, 122626681], [122630681, 122630858], [122633350, 122633435], [122637864, 122637971], [122640337, 122640387]]
ENST00000470052 [[122611292, 122612147], [122618154, 122618308]] None
ENST00000497136 [[122612127, 122612147], [122618154, 122618308], [122619620, 122619794], [122622246, 122622433], [122624558, 122624724], [122625141, 122625256], [122626080, 122626276], [122630681, 122630858], [122633350, 122633435], [122637864, 122637971], [122640337, 122640413], [122643291, 122643400], [122645325, 122645450], [122646200, 122646348], [122648589, 122648696], [122649406, 122649521], [122650227, 122650399], [122659540, 122659649], [122660547, 122660610], [122661768, 122661834], [122662566, 122662744], [122663558, 122663654], [122664157, 122664323], [122664830, 122664928], [122665387, 122666367], [122668067, 122669032]] [[122624622, 122624724], [122625141, 122625256], [122626080, 122626276], [122630681, 122630858], [122633350, 122633360]]
ENST00000462529 [[122621961, 122622433], [122624558, 122624703]] None
ENST00000604220 [[122628174, 122628273], [122630681, 122630858], [122633350, 122633435], [122637864, 122637971], [122640337, 122640413], [122643291, 122643317]] None
ENST00000604509 [[122638516, 122640074], [122640337, 122640413], [122643291, 122643400], [122645325, 122645450], [122646200, 122646348], [122648589, 122649521], [122659540, 122659649], [122660547, 122660610], [122661768, 122661834], [122662566, 122662744], [122663558, 122663654], [122664161, 122664323], [122664830, 122664928], [122665387, 122665533], [122666287, 122666367], [122668067, 122669022]] None
ENST00000605376 [[122644521, 122644637], [122645325, 122645450], [122646200, 122646348], [122648589, 122648696], [122649406, 122649480]] None
ENST00000478567 [[122645379, 122645450], [122646200, 122646348], [122648589, 122648696], [122649406, 122649521], [122659540, 122659649], [122660547, 122660610], [122661768, 122661834], [122662566, 122662737]] None
ENST00000605320 [[122659349, 122659649], [122660547, 122660610], [122661768, 122661834], [122662566, 122662687]] None
ENST00000605659 [[122663552, 122663662], [122664832, 122664907]] None
ENST00000603658 [[122663576, 122663654], [122664157, 122664323], [122664830, 122665168]] None
ENST00000604714 [[122666806, 122669035]] None
NM_018117 [[122610686, 122611018], [122612035, 122612147], [122618154, 122618308], [122619620, 122619794], [122622246, 122622433], [122624558, 122624724], [122625141, 122625256], [122626080, 122626276], [122626577, 122626681], [122630681, 122630858], [122633350, 122633435], [122637864, 122637971], [122640337, 122640413], [122643291, 122643400], [122645325, 122645450], [122646200, 122646348], [122648589, 122648696], [122649406, 122649521], [122650227, 122650399], [122659540, 122659649], [122660547, 122660610], [122661768, 122661834], [122662566, 122662744], [122663558, 122663654], [122664157, 122664323], [122664830, 122664928], [122665387, 122665533], [122666287, 122666367], [122668067, 122669038]] [[122610932, 122611018], [122612035, 122612147], [122618154, 122618308], [122619620, 122619794], [122622246, 122622433], [122624558, 122624724], [122625141, 122625256], [122626080, 122626276], [122626577, 122626681], [122630681, 122630858], [122633350, 122633435], [122637864, 122637971], [122640337, 122640413], [122643291, 122643400], [122645325, 122645450], [122646200, 122646348], [122648589, 122648696], [122649406, 122649521], [122650227, 122650399], [122659540, 122659649], [122660547, 122660610], [122661768, 122661834], [122662566, 122662744], [122663558, 122663654], [122664157, 122664323], [122664830, 122664928], [122665387, 122665533], [122666287, 122666367], [122668067, 122668225]]
Promoter
Chrom Start End Description
chr10 122610796 122610809 CAGE_peak_3_at_WDR11_5end
chr10 122610811 122610822 CAGE_peak_4_at_WDR11_5end
chr10 122610853 122610924 CAGE_peak_1_at_WDR11_5end
chr10 122611224 122611295 CAGE_peak_2_at_WDR11_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I119871 119871000 119874233 2.01 [{'connected_gene': 'MCMBP', 'score': 563.16}, {'connected_gene': 'SEC23IP', 'score': 18.88}, {'connected_gene': 'TIAL1', 'score': 16.31}, {'connected_gene': 'WDR11', 'score': 9.76}, {'connected_gene': 'INPP5F', 'score': 8.57}, {'connected_gene': 'ENSG00000282413', 'score': 0.23}]
chr10 GH10I121332 121332379 121334136 0.63 [{'connected_gene': 'WDR11', 'score': 34.68}, {'connected_gene': 'NSMCE4A', 'score': 11.67}, {'connected_gene': 'RPL21P16', 'score': 11.0}, {'connected_gene': 'ATE1-AS1', 'score': 10.65}, {'connected_gene': 'LOC105378523', 'score': 0.39}, {'connected_gene': 'GC10M121343', 'score': 0.34}]
chr10 GH10I121521 121521880 121522479 0.43 [{'connected_gene': 'WDR11', 'score': 17.03}, {'connected_gene': 'NSMCE4A', 'score': 11.69}, {'connected_gene': 'FGFR2', 'score': 10.57}, {'connected_gene': 'RN7SKP167', 'score': 0.14}]
chr10 GH10I121307 121307208 121310316 0.97 [{'connected_gene': 'WDR11', 'score': 46.47}, {'connected_gene': 'NSMCE4A', 'score': 11.77}, {'connected_gene': 'ATE1', 'score': 9.92}, {'connected_gene': 'LOC105378523', 'score': 0.39}, {'connected_gene': 'GC10M121233', 'score': 0.22}]
chr10 GH10I121497 121497119 121505197 0.91 [{'connected_gene': 'WDR11', 'score': 69.48}, {'connected_gene': 'NSMCE4A', 'score': 25.28}, {'connected_gene': 'RN7SKP167', 'score': 0.16}, {'connected_gene': 'FGFR2', 'score': 0.15}]
chr10 GH10I120850 120850540 120852993 2.11 [{'connected_gene': 'WDR11', 'score': 628.14}, {'connected_gene': 'WDR11-AS1', 'score': 550.77}, {'connected_gene': 'SEC23IP', 'score': 28.64}, {'connected_gene': 'MCMBP', 'score': 9.77}, {'connected_gene': 'ENSG00000271670', 'score': 0.31}]
chr10 GH10I121417 121417777 121419274 0.7 [{'connected_gene': 'WDR11', 'score': 18.01}, {'connected_gene': 'RN7SKP167', 'score': 0.44}, {'connected_gene': 'FGFR2', 'score': 0.09}]
chr10 GH10I121112 121112307 121113997 0.63 [{'connected_gene': 'WDR11', 'score': 9.8}, {'connected_gene': 'LOC105378522', 'score': 0.37}, {'connected_gene': 'LOC105378521', 'score': 0.28}]
chr10 GH10I120961 120961981 120962501 0.31 [{'connected_gene': 'WDR11', 'score': 11.24}, {'connected_gene': 'LOC105378518', 'score': 0.44}, {'connected_gene': 'LOC105378519', 'score': 0.37}]
chr10 GH10I120948 120948838 120950472 1.01 [{'connected_gene': 'WDR11', 'score': 41.09}, {'connected_gene': 'ENSG00000224250', 'score': 10.84}, {'connected_gene': 'LOC105378518', 'score': 0.77}, {'connected_gene': 'GC10P120938', 'score': 0.39}, {'connected_gene': 'LOC105378519', 'score': 0.29}]
chr10 GH10I120962 120962770 120964506 0.43 [{'connected_gene': 'WDR11', 'score': 26.73}, {'connected_gene': 'LOC105378518', 'score': 0.44}, {'connected_gene': 'LOC105378519', 'score': 0.37}]
chr10 GH10I120789 120789980 120790093 0.33 [{'connected_gene': 'WDR11', 'score': 2.2}, {'connected_gene': 'LOC105378516', 'score': 0.34}, {'connected_gene': 'WDR11-AS1', 'score': 0.21}, {'connected_gene': 'LINC01561', 'score': 0.08}]
chr10 GH10I120799 120799552 120801902 0.2 [{'connected_gene': 'WDR11', 'score': 11.49}, {'connected_gene': 'LOC105378516', 'score': 0.39}, {'connected_gene': 'WDR11-AS1', 'score': 0.23}, {'connected_gene': 'LINC01561', 'score': 0.08}]
chr10 GH10I121095 121095834 121098521 0.76 [{'connected_gene': 'NSMCE4A', 'score': 5.04}, {'connected_gene': 'WDR11', 'score': 4.78}, {'connected_gene': 'LOC105378521', 'score': 0.37}, {'connected_gene': 'LOC105378522', 'score': 0.29}]
chr10 GH10I120835 120835009 120835122 0.22 [{'connected_gene': 'WDR11-AS1', 'score': 0.37}, {'connected_gene': 'WDR11', 'score': 0.37}, {'connected_gene': 'LOC105378516', 'score': 0.34}]
chr10 GH10I121554 121553763 121554303 0.96 [{'connected_gene': 'FGFR2', 'score': 10.86}, {'connected_gene': 'WDR11', 'score': 9.76}, {'connected_gene': 'RN7SKP167', 'score': 0.11}]
chr10 GH10I121323 121322379 121327174 0.94 [{'connected_gene': 'LOC105378523', 'score': 550.77}, {'connected_gene': 'WDR11', 'score': 17.62}, {'connected_gene': 'NSMCE4A', 'score': 10.36}, {'connected_gene': 'GC10M121343', 'score': 0.29}]
chr10 GH10I120977 120977656 120980870 1.14 [{'connected_gene': 'LOC105378519', 'score': 550.77}, {'connected_gene': 'WDR11', 'score': 6.0}, {'connected_gene': 'WDR11-AS1', 'score': 4.62}, {'connected_gene': 'LOC105378518', 'score': 0.31}]
chr10 GH10I120812 120812941 120813838 0.2 [{'connected_gene': 'LOC105378516', 'score': 550.77}, {'connected_gene': 'WDR11', 'score': 11.52}, {'connected_gene': 'WDR11-AS1', 'score': 5.13}, {'connected_gene': 'LINC01561', 'score': 0.08}]
chr10 GH10I120942 120942701 120943400 0.96 [{'connected_gene': 'ENSG00000224250', 'score': 11.43}, {'connected_gene': 'WDR11-AS1', 'score': 5.87}, {'connected_gene': 'WDR11', 'score': 5.04}, {'connected_gene': 'GC10P120938', 'score': 0.77}, {'connected_gene': 'LOC105378518', 'score': 0.39}, {'connected_gene': 'LOC105378519', 'score': 0.28}]