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
ENST00000264318 [[46920916, 46930772], [46966986, 46967246], [46973099, 46973252], [46976248, 46976392], [46979077, 46979160], [46979426, 46979647], [46981047, 46981115], [46994844, 46994963], [46995355, 46996424]] [[46930241, 46930772], [46966986, 46967246], [46973099, 46973252], [46976248, 46976392], [46979077, 46979160], [46979426, 46979647], [46981047, 46981115], [46994844, 46994963], [46995355, 46995441]]
ENST00000508560 [[46930143, 46930772], [46966986, 46967246], [46973099, 46973252], [46976248, 46976392], [46979077, 46979160], [46979426, 46979647], [46981047, 46981115], [46994844, 46994963], [46995423, 46995522]] [[46994870, 46994963], [46995423, 46995441]]
ENST00000511523 [[46930143, 46930772], [46966986, 46967246], [46976248, 46976392], [46979077, 46979160], [46979426, 46979647], [46981047, 46981115], [46994844, 46994963], [46995423, 46995522]] [[46994870, 46994963], [46995423, 46995441]]
ENST00000502874 [[46973099, 46973252], [46976248, 46976392], [46979077, 46979160], [46979426, 46979647], [46981047, 46981115], [46995355, 46995557]] [[46981090, 46981115], [46995355, 46995441]]
ENST00000509316 [[46994686, 46994963], [46995355, 46995565]] None
NM_001204266 [[46920916, 46930772], [46966986, 46967246], [46973099, 46973252], [46976248, 46976392], [46979077, 46979160], [46979426, 46979647], [46981047, 46981115], [46994844, 46994963], [46995423, 46995522]] [[46930241, 46930772], [46966986, 46967246], [46973099, 46973252], [46976248, 46976392], [46979077, 46979160], [46979426, 46979647], [46981047, 46981115], [46994844, 46994963], [46995423, 46995452]]
NM_001204267 [[46920916, 46930772], [46966986, 46967246], [46976248, 46976392], [46979077, 46979160], [46979426, 46979647], [46981047, 46981115], [46994844, 46994963], [46995423, 46995522]] [[46930241, 46930772], [46966986, 46967246], [46976248, 46976392], [46979077, 46979160], [46979426, 46979647], [46981047, 46981115], [46994844, 46994963], [46995423, 46995452]]
NM_000809 [[46920916, 46930772], [46966986, 46967246], [46973099, 46973252], [46976248, 46976392], [46979077, 46979160], [46979426, 46979647], [46981047, 46981115], [46994844, 46994963], [46995355, 46996424]] [[46930241, 46930772], [46966986, 46967246], [46973099, 46973252], [46976248, 46976392], [46979077, 46979160], [46979426, 46979647], [46981047, 46981115], [46994844, 46994963], [46995355, 46995441]]
Promoter
Chrom Start End Description
chr4 46995468 46995482 CAGE_peak_3_at_GABRA4_5end
chr4 46995484 46995588 CAGE_peak_1_at_GABRA4_5end
chr4 46995590 46995607 CAGE_peak_2_at_GABRA4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I047033 47031296 47031355 0.68 [{'connected_gene': 'GABRB1', 'score': 550.28}, {'connected_gene': 'GABRA4', 'score': 0.28}, {'connected_gene': 'LOC105374442', 'score': 0.21}]
chr4 GH04I046720 46720987 46721178 0.22 [{'connected_gene': 'GABRA4', 'score': 1.63}, {'connected_gene': 'RAC1P2', 'score': 0.77}, {'connected_gene': 'PIR47031', 'score': 0.18}]
chr4 GH04I046975 46975601 46976600 0.46 [{'connected_gene': 'GABRA4', 'score': 0.37}, {'connected_gene': 'GABRB1', 'score': 0.37}, {'connected_gene': 'GC04M046919', 'score': 0.23}]
chr4 GH04I046993 46993522 46993581 0.82 [{'connected_gene': 'GABRA4', 'score': 550.77}, {'connected_gene': 'GABRB1', 'score': 550.77}, {'connected_gene': 'GC04M046919', 'score': 0.19}]
chr4 GH04I047641 47641352 47644141 0.73 [{'connected_gene': 'GABRA4', 'score': 7.38}, {'connected_gene': 'LOC105374443', 'score': 0.77}, {'connected_gene': 'MIR8053', 'score': 0.44}, {'connected_gene': 'CORIN', 'score': 0.08}]
chr4 GH04I047011 47011004 47011153 0.69 [{'connected_gene': 'COX7B2', 'score': 7.78}, {'connected_gene': 'GABRA4', 'score': 0.37}, {'connected_gene': 'GABRB1', 'score': 0.37}, {'connected_gene': 'LOC105374442', 'score': 0.17}]
chr4 GH04I047071 47071127 47072682 0.57 [{'connected_gene': 'LOC105374442', 'score': 0.34}, {'connected_gene': 'GABRA4', 'score': 0.18}, {'connected_gene': 'GABRB1', 'score': 0.18}]
chr4 GH04I047031 47031400 47032201 0.68 [{'connected_gene': 'ENSG00000260918', 'score': 5.0}, {'connected_gene': 'GABRA4', 'score': 0.28}, {'connected_gene': 'GABRB1', 'score': 0.28}, {'connected_gene': 'LOC105374442', 'score': 0.21}]
chr4 GH04I047032 47032600 47032893 1.19 [{'connected_gene': 'ENSG00000260918', 'score': 4.92}, {'connected_gene': 'GABRA4', 'score': 0.28}, {'connected_gene': 'GABRB1', 'score': 0.28}, {'connected_gene': 'LOC105374442', 'score': 0.21}]