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
ENST00000230588 [[46761126, 46761204], [46761288, 46761313], [46761402, 46761453], [46766342, 46766383], [46766842, 46766918], [46777156, 46777274], [46787265, 46787441], [46793008, 46793230], [46794090, 46794240], [46797092, 46797308], [46800810, 46801275], [46802314, 46802488], [46802985, 46803286], [46806716, 46807515]] [[46761135, 46761204], [46761288, 46761313], [46761402, 46761453], [46766342, 46766383], [46766842, 46766918], [46777156, 46777274], [46787265, 46787441], [46793008, 46793230], [46794090, 46794240], [46797092, 46797308], [46800810, 46801275], [46802314, 46802488], [46802985, 46803286], [46806716, 46806873]]
NM_005588 [[46761093, 46761204], [46761288, 46761313], [46761402, 46761453], [46766342, 46766383], [46766842, 46766918], [46777156, 46777274], [46787265, 46787441], [46793008, 46793230], [46794090, 46794240], [46797092, 46797308], [46800810, 46801275], [46802314, 46802488], [46802985, 46803286], [46806716, 46807519]] [[46761135, 46761204], [46761288, 46761313], [46761402, 46761453], [46766342, 46766383], [46766842, 46766918], [46777156, 46777274], [46787265, 46787441], [46793008, 46793230], [46794090, 46794240], [46797092, 46797308], [46800810, 46801275], [46802314, 46802488], [46802985, 46803286], [46806716, 46806873]]
Promoter
Chrom Start End Description
chr6 46761118 46761132 CAGE_peak_1_at_MEP1A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I046770 46770604 46774599 1.29 [{'connected_gene': 'PLA2G7', 'score': 14.09}, {'connected_gene': 'MEP1A', 'score': 11.16}, {'connected_gene': 'TDRD6', 'score': 10.56}, {'connected_gene': 'ENSG00000236164', 'score': 0.39}, {'connected_gene': 'GC06P046792', 'score': 0.37}]
chr6 GH06I046820 46820978 46823070 0.71 [{'connected_gene': 'PLA2G7', 'score': 10.47}, {'connected_gene': 'TDRD6', 'score': 10.15}, {'connected_gene': 'SLC25A27', 'score': 4.52}, {'connected_gene': 'GC06P046830', 'score': 0.44}, {'connected_gene': 'MEP1A', 'score': 0.31}]
chr6 GH06I046807 46807721 46809360 0.43 [{'connected_gene': 'PLA2G7', 'score': 10.61}, {'connected_gene': 'TDRD6', 'score': 9.87}, {'connected_gene': 'ADGRF5', 'score': 9.47}, {'connected_gene': 'SLC25A27', 'score': 6.62}, {'connected_gene': 'MEP1A', 'score': 4.77}, {'connected_gene': 'GC06P046792', 'score': 0.37}, {'connected_gene': 'GC06P046830', 'score': 0.34}]
chr6 GH06I046814 46814752 46817543 0.45 [{'connected_gene': 'PLA2G7', 'score': 10.56}, {'connected_gene': 'LOC101926962', 'score': 9.95}, {'connected_gene': 'SLC25A27', 'score': 7.18}, {'connected_gene': 'MEP1A', 'score': 6.46}, {'connected_gene': 'ADGRF4', 'score': 4.12}, {'connected_gene': 'GC06P046830', 'score': 0.39}]
chr6 GH06I046946 46946448 46950401 1.13 [{'connected_gene': 'MEP1A', 'score': 9.67}, {'connected_gene': 'PLA2G7', 'score': 9.46}, {'connected_gene': 'ADGRF5', 'score': 0.44}, {'connected_gene': 'LOC105375080', 'score': 0.37}]
chr6 GH06I046793 46793204 46793399 1.12 [{'connected_gene': 'MEP1A', 'score': 550.77}, {'connected_gene': 'GC06P046792', 'score': 550.77}]
chr6 GH06I046749 46749364 46750227 0.31 [{'connected_gene': 'TDRD6', 'score': 12.74}, {'connected_gene': 'MEP1A', 'score': 10.91}, {'connected_gene': 'CYP39A1', 'score': 5.27}, {'connected_gene': 'ANKRD66', 'score': 0.77}, {'connected_gene': 'ENSG00000236164', 'score': 0.39}, {'connected_gene': 'GC06P046731', 'score': 0.37}]
chr6 GH06I046900 46900863 46904465 0.54 [{'connected_gene': 'LOC101926962', 'score': 550.77}, {'connected_gene': 'ADGRF5', 'score': 10.7}, {'connected_gene': 'MEP1A', 'score': 9.73}, {'connected_gene': 'SLC25A27', 'score': 6.22}, {'connected_gene': 'GC06P046865', 'score': 0.28}]
chr6 GH06I046904 46904649 46905243 0.2 [{'connected_gene': 'LOC101926962', 'score': 550.77}, {'connected_gene': 'ADGRF5', 'score': 10.56}, {'connected_gene': 'MEP1A', 'score': 9.8}, {'connected_gene': 'LOC105375080', 'score': 0.31}]
chr6 GH06I046746 46746884 46746943 0.5 [{'connected_gene': 'ANKRD66', 'score': 550.77}, {'connected_gene': 'MEP1A', 'score': 10.43}, {'connected_gene': 'PLA2G7', 'score': 0.39}, {'connected_gene': 'GC06P046731', 'score': 0.37}]