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
ENST00000522371 [[114277792, 114277857], [114279812, 114279930], [114281069, 114281182], [114283530, 114283558], [114332294, 114332472]] [[114277792, 114277857], [114279812, 114279930], [114281069, 114281144]]
ENST00000519065 [[114254191, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270424], [114274440, 114274582], [114277176, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114292020, 114292449]] [[114262221, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270424], [114274440, 114274582], [114277176, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114292020, 114292072]]
ENST00000398283 [[114257319, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270424], [114274440, 114274582], [114277176, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114292020, 114292359]] [[114262221, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270424], [114274440, 114274582], [114277176, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114292020, 114292354]]
ENST00000523334 [[114261881, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114270424], [114274440, 114274582], [114277176, 114277766]] None
ENST00000519108 [[114261881, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270424], [114274440, 114274582], [114277176, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114291643, 114291888]] [[114262221, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270424], [114274440, 114274582], [114277176, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281144]]
ENST00000368632 [[114261881, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270424], [114274440, 114274582], [114277176, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114283530, 114283558], [114292020, 114292321]] [[114262221, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270424], [114274440, 114274582], [114277176, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281144]]
ENST00000520746 [[114266543, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270487]] None
ENST00000518756 [[114274563, 114274582], [114277176, 114277315], [114277782, 114278450]] None
ENST00000425835 [[114277090, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114292020, 114292042]] [[114277157, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114292020, 114292042]]
ENST00000523628 [[114277273, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114289493, 114289694]] [[114277273, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281144]]
ENST00000521610 [[114277282, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114291418, 114291659]] [[114277282, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281144]]
ENST00000521163 [[114277833, 114277857], [114279812, 114279930], [114281069, 114281203], [114292020, 114292301]] [[114277833, 114277857], [114279812, 114279930], [114281069, 114281203], [114292020, 114292072]]
ENST00000518690 [[114277837, 114277857], [114279812, 114279930], [114281069, 114281182], [114289797, 114289860], [114291643, 114291893]] [[114277837, 114277857], [114279812, 114279930], [114281069, 114281144]]
ENST00000523240 [[114277853, 114277857], [114279812, 114279930], [114281069, 114281182], [114283530, 114283558], [114289797, 114289860], [114291643, 114291874]] [[114277853, 114277857], [114279812, 114279930], [114281069, 114281144]]
ENST00000521233 [[114279590, 114279930], [114281069, 114281182], [114292020, 114292300]] None
ENST00000520895 [[114279825, 114279930], [114281069, 114281182], [114289797, 114289860], [114292020, 114292290]] [[114279825, 114279930], [114281069, 114281144]]
ENST00000524334 [[114279847, 114279930], [114281069, 114281182], [114283530, 114283558], [114289797, 114289860], [114292020, 114292303]] [[114279847, 114279930], [114281069, 114281144]]
ENST00000520170 [[114280773, 114281182], [114292020, 114292301]] None
NR_073443 [[114257319, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270424], [114274440, 114274582], [114277176, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114291643, 114291888]] None
NR_033441 [[114257319, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270424], [114274440, 114274582], [114277176, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114283530, 114283558], [114292020, 114292359]] None
NM_001527 [[114257319, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270424], [114274440, 114274582], [114277176, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114292020, 114292359]] [[114262221, 114262252], [114262871, 114262929], [114264514, 114264670], [114265443, 114265574], [114266525, 114266634], [114267171, 114267312], [114270142, 114270251], [114270331, 114270424], [114274440, 114274582], [114277176, 114277315], [114277782, 114277857], [114279812, 114279930], [114281069, 114281182], [114292020, 114292072]]
Promoter
Chrom Start End Description
chr6 114292266 114292283 CAGE_peak_2_at_HDAC2_5end
chr6 114292284 114292359 CAGE_peak_1_at_HDAC2_5end
chr6 114292467 114292474 CAGE_peak_4_at_HDAC2_5end
chr6 114292476 114292491 CAGE_peak_3_at_HDAC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I113854 113854047 113861593 2.98 [{'connected_gene': 'MARCKS', 'score': 559.25}, {'connected_gene': 'FLJ34503', 'score': 15.59}, {'connected_gene': 'RPS27AP11', 'score': 10.54}, {'connected_gene': 'HDAC2', 'score': 10.53}, {'connected_gene': 'GC06P113861', 'score': 0.77}]
chr6 GH06I113994 113994564 114000935 1.3 [{'connected_gene': 'HDAC2', 'score': 12.12}, {'connected_gene': 'FLJ34503', 'score': 9.83}, {'connected_gene': 'HDAC2-AS2', 'score': 0.31}]
chr6 GH06I113968 113968989 113972193 2.32 [{'connected_gene': 'HDAC2', 'score': 565.24}, {'connected_gene': 'HDAC2-AS2', 'score': 550.77}, {'connected_gene': 'RPS27AP11', 'score': 26.29}, {'connected_gene': 'FLJ34503', 'score': 4.4}]
chr6 GH06I114009 114009277 114012485 0.38 [{'connected_gene': 'HDAC2', 'score': 550.77}, {'connected_gene': 'HDAC2-AS2', 'score': 0.26}]
chr6 GH06I114008 114008337 114008728 0.4 [{'connected_gene': 'HDAC2', 'score': 0.77}, {'connected_gene': 'HDAC2-AS2', 'score': 0.28}]
chr6 GH06I114001 114001380 114003234 0.31 [{'connected_gene': 'HDAC2', 'score': 0.44}, {'connected_gene': 'HDAC2-AS2', 'score': 0.29}]
chr6 GH06I113936 113936237 113936346 0.57 [{'connected_gene': 'FLJ34503', 'score': 10.55}, {'connected_gene': 'GC06M113929', 'score': 0.77}, {'connected_gene': 'HDAC2-AS2', 'score': 0.29}, {'connected_gene': 'HDAC2', 'score': 0.18}]
chr6 GH06I114341 114341170 114344226 1.57 [{'connected_gene': 'HS3ST5', 'score': 550.77}, {'connected_gene': 'HDAC2', 'score': 13.38}, {'connected_gene': 'RPS27AP11', 'score': 12.19}, {'connected_gene': 'RNA5SP213', 'score': 0.13}, {'connected_gene': 'GC06M114221', 'score': 0.13}, {'connected_gene': 'HDAC2-AS2', 'score': 0.05}]
chr6 GH06I113982 113982104 113983255 0.57 [{'connected_gene': 'HDAC2-AS2', 'score': 0.39}, {'connected_gene': 'HDAC2', 'score': 0.31}]
chr6 GH06I113967 113967201 113967400 0.2 [{'connected_gene': 'HDAC2-AS2', 'score': 0.77}, {'connected_gene': 'GC06M113929', 'score': 0.29}, {'connected_gene': 'HDAC2', 'score': 0.26}]
chr6 GH06I114068 114068280 114069400 0.2 [{'connected_gene': 'NUDT19P3', 'score': 11.62}, {'connected_gene': 'HDAC2', 'score': 11.59}, {'connected_gene': 'RPSAP43', 'score': 0.37}, {'connected_gene': 'GC06P114038', 'score': 0.29}, {'connected_gene': 'HDAC2-AS2', 'score': 0.15}, {'connected_gene': 'HS3ST5', 'score': 0.06}]
chr6 GH06I114016 114016128 114018517 0.58 [{'connected_gene': 'NUDT19P3', 'score': 0.77}, {'connected_gene': 'HDAC2', 'score': 0.44}, {'connected_gene': 'HDAC2-AS2', 'score': 0.25}]