PsyMuKB

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
ENST00000412352	[[31800093, 31800189], [31814774, 31815201], [31819020, 31819151], [31820580, 31821009]]	[[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
ENST00000395763	[[31812120, 31812296], [31814774, 31815201], [31819020, 31819151], [31820580, 31821901]]	[[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
ENST00000538463	[[31812621, 31813003], [31813729, 31813917], [31814774, 31815201], [31819020, 31819151], [31820580, 31821314]]	[[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
ENST00000357721	[[31812621, 31812723], [31814774, 31815201], [31819020, 31819151], [31820580, 31826048]]	[[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
ENST00000539633	[[31812644, 31812869], [31814774, 31815103]]	[[31814887, 31815103]]
ENST00000538391	[[31814870, 31815201], [31820580, 31821316]]	[[31814887, 31815201], [31820580, 31820611]]
NM_001135864	[[31800093, 31800189], [31814774, 31815201], [31819020, 31819151], [31820580, 31822016]]	[[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
NM_173802	[[31812120, 31812296], [31814774, 31815201], [31819020, 31819151], [31820580, 31822016]]	[[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]
NM_001135863	[[31812608, 31812723], [31814774, 31815201], [31819020, 31819151], [31820580, 31822016]]	[[31814887, 31815201], [31819020, 31819151], [31820580, 31820924]]

Promoter

Chrom	Start	End	Description
chr12	31812125	31812166	CAGE_peak_1_at_METTL20_5end
chr12	31812602	31812628	CAGE_peak_2_at_METTL20_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I032301	32301411	32302525	0.66	[{'connected_gene': 'BICD1', 'score': 13.32}, {'connected_gene': 'ETFBKMT', 'score': 10.75}, {'connected_gene': 'ENSG00000274964', 'score': 0.28}, {'connected_gene': 'LOC100420186', 'score': 0.19}]
chr12	GH12I032068	32068639	32070519	0.63	[{'connected_gene': 'KIAA1551', 'score': 10.9}, {'connected_gene': 'ETFBKMT', 'score': 9.76}, {'connected_gene': 'ENSG00000257852', 'score': 0.77}, {'connected_gene': 'ENSG00000257094', 'score': 0.21}]
chr12	GH12I032064	32064877	32065577	0.2	[{'connected_gene': 'KIAA1551', 'score': 10.9}, {'connected_gene': 'ETFBKMT', 'score': 9.76}, {'connected_gene': 'ENSG00000257852', 'score': 0.44}, {'connected_gene': 'ENSG00000257094', 'score': 0.22}]
chr12	GH12I031702	31702200	31702401	0.46	[{'connected_gene': 'KIAA1551', 'score': 21.46}, {'connected_gene': 'DDX11', 'score': 18.78}, {'connected_gene': 'SINHCAF', 'score': 14.9}, {'connected_gene': 'FLJ13224', 'score': 12.54}, {'connected_gene': 'AMN1', 'score': 11.92}, {'connected_gene': 'ENSG00000256984', 'score': 10.39}, {'connected_gene': 'GC12P031714', 'score': 0.39}, {'connected_gene': 'ETFBKMT', 'score': 0.22}]
chr12	GH12I031658	31658364	31660520	2.03	[{'connected_gene': 'ETFBKMT', 'score': 550.39}, {'connected_gene': 'KIAA1551', 'score': 21.58}, {'connected_gene': 'DDX11', 'score': 14.86}, {'connected_gene': 'SINHCAF', 'score': 13.6}, {'connected_gene': 'FLJ13224', 'score': 13.47}, {'connected_gene': 'IPO8', 'score': 10.06}, {'connected_gene': 'AK4P3', 'score': 5.81}, {'connected_gene': 'DSPA2D', 'score': 4.88}, {'connected_gene': 'GC12P031714', 'score': 0.23}]
chr12	GH12I031600	31600732	31601457	0.66	[{'connected_gene': 'ETFBKMT', 'score': 2.17}, {'connected_gene': 'DENND5B', 'score': 1.99}, {'connected_gene': 'GC12P031598', 'score': 0.77}, {'connected_gene': 'DENND5B-AS1', 'score': 0.39}, {'connected_gene': 'AK4P3', 'score': 0.37}]
chr12	GH12I031315	31315049	31316209	0.72	[{'connected_gene': 'ETFBKMT', 'score': 9.7}, {'connected_gene': 'DENND5B', 'score': 9.3}, {'connected_gene': 'RNU5F-4P', 'score': 9.3}, {'connected_gene': 'DENND5B-AS1', 'score': 9.3}, {'connected_gene': 'ENSG00000256176', 'score': 0.77}, {'connected_gene': 'FLJ13224', 'score': 0.44}, {'connected_gene': 'SINHCAF', 'score': 0.39}]
chr12	GH12I031645	31645860	31647658	0.72	[{'connected_gene': 'ETFBKMT', 'score': 550.77}, {'connected_gene': 'RNU6-618P', 'score': 11.83}, {'connected_gene': 'RNU5F-4P', 'score': 10.91}, {'connected_gene': 'DENND5B-AS1', 'score': 10.9}, {'connected_gene': 'DENND5B', 'score': 10.9}, {'connected_gene': 'AK4P3', 'score': 6.62}, {'connected_gene': 'DSPA2D', 'score': 5.12}, {'connected_gene': 'GC12P031641', 'score': 0.44}]
chr12	GH12I032331	32331227	32331376	0.62	[{'connected_gene': 'ETFBKMT', 'score': 9.77}, {'connected_gene': 'ENSG00000274964', 'score': 0.44}, {'connected_gene': 'LOC100420186', 'score': 0.15}, {'connected_gene': 'BICD1', 'score': 0.07}]
chr12	GH12I031516	31516999	31521645	1.28	[{'connected_gene': 'DENND5B', 'score': 15.82}, {'connected_gene': 'DENND5B-AS1', 'score': 11.04}, {'connected_gene': 'RNU5F-4P', 'score': 11.04}, {'connected_gene': 'RNU6-618P', 'score': 10.82}, {'connected_gene': 'ETFBKMT', 'score': 10.0}, {'connected_gene': 'AK4P3', 'score': 7.28}, {'connected_gene': 'GC12M031506', 'score': 0.39}, {'connected_gene': 'ENSG00000201228', 'score': 0.39}, {'connected_gene': 'ENSG00000225349', 'score': 0.37}]
chr12	GH12I031673	31673530	31674436	0.2	[{'connected_gene': 'DSPA2D', 'score': 5.43}, {'connected_gene': 'ETFBKMT', 'score': 0.31}, {'connected_gene': 'GC12P031714', 'score': 0.28}, {'connected_gene': 'AMN1', 'score': 0.22}]
chr12	GH12I031686	31686525	31688018	0.77	[{'connected_gene': 'DSPA2D', 'score': 9.01}, {'connected_gene': 'GC12P031714', 'score': 0.31}, {'connected_gene': 'ETFBKMT', 'score': 0.26}, {'connected_gene': 'AMN1', 'score': 0.26}]
chr12	GH12I031584	31584830	31586167	0.72	[{'connected_gene': 'RNU6-618P', 'score': 10.9}, {'connected_gene': 'ETFBKMT', 'score': 10.14}, {'connected_gene': 'DENND5B', 'score': 5.16}, {'connected_gene': 'DENND5B-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000225349', 'score': 0.23}]
chr12	GH12I031586	31586528	31587343	0.46	[{'connected_gene': 'RNU6-618P', 'score': 10.89}, {'connected_gene': 'ETFBKMT', 'score': 10.14}, {'connected_gene': 'DENND5B-AS1', 'score': 0.77}, {'connected_gene': 'DENND5B', 'score': 0.77}, {'connected_gene': 'ENSG00000225349', 'score': 0.23}]
chr12	GH12I031470	31470636	31472164	0.64	[{'connected_gene': 'RNU6-618P', 'score': 11.08}, {'connected_gene': 'DENND5B-AS1', 'score': 10.64}, {'connected_gene': 'DENND5B', 'score': 10.64}, {'connected_gene': 'RNU5F-4P', 'score': 10.64}, {'connected_gene': 'ETFBKMT', 'score': 10.09}, {'connected_gene': 'AK4P3', 'score': 7.56}, {'connected_gene': 'LOC100422622', 'score': 0.44}, {'connected_gene': 'MRPL30P2', 'score': 0.44}]
chr12	GH12I031360	31360471	31361040	0.82	[{'connected_gene': 'IPO8', 'score': 72.26}, {'connected_gene': 'DDX11', 'score': 63.0}, {'connected_gene': 'DDX11-AS1', 'score': 56.35}, {'connected_gene': 'SINHCAF', 'score': 44.12}, {'connected_gene': 'BICD1', 'score': 28.94}, {'connected_gene': 'CAPRIN2', 'score': 28.11}, {'connected_gene': 'FLJ13224', 'score': 24.23}, {'connected_gene': 'ENSG00000256984', 'score': 19.87}, {'connected_gene': 'RNU6-618P', 'score': 11.82}, {'connected_gene': 'DENND5B-AS1', 'score': 10.79}, {'connected_gene': 'RNU5F-4P', 'score': 10.78}, {'connected_gene': 'DENND5B', 'score': 10.78}, {'connected_gene': 'KIAA1551', 'score': 10.75}, {'connected_gene': 'ETFBKMT', 'score': 9.83}, {'connected_gene': 'ENSG00000283256', 'score': 0.44}, {'connected_gene': 'GC12P031343', 'score': 0.37}]
chr12	GH12I031368	31368496	31372203	1.55	[{'connected_gene': 'LINC02387', 'score': 550.77}, {'connected_gene': 'DENND5B', 'score': 15.38}, {'connected_gene': 'DENND5B-AS1', 'score': 10.66}, {'connected_gene': 'RNU5F-4P', 'score': 10.65}, {'connected_gene': 'SINHCAF', 'score': 8.92}, {'connected_gene': 'AK4P3', 'score': 7.54}, {'connected_gene': 'DDX11', 'score': 1.28}, {'connected_gene': 'ETFBKMT', 'score': 1.2}, {'connected_gene': 'GC12M031383', 'score': 0.39}]
chr12	GH12I031524	31524402	31526742	1.18	[{'connected_gene': 'DENND5B-AS1', 'score': 11.03}, {'connected_gene': 'DENND5B', 'score': 11.02}, {'connected_gene': 'RNU5F-4P', 'score': 11.02}, {'connected_gene': 'RNU6-618P', 'score': 10.93}, {'connected_gene': 'ETFBKMT', 'score': 9.8}, {'connected_gene': 'AK4P3', 'score': 6.97}, {'connected_gene': 'ENSG00000225349', 'score': 0.44}, {'connected_gene': 'GC12M031506', 'score': 0.37}, {'connected_gene': 'ENSG00000201228', 'score': 0.37}]
chr12	GH12I031649	31649886	31654055	1.1	[{'connected_gene': 'RNU5F-4P', 'score': 10.46}, {'connected_gene': 'DENND5B-AS1', 'score': 10.45}, {'connected_gene': 'DENND5B', 'score': 10.45}, {'connected_gene': 'AK4P3', 'score': 5.82}, {'connected_gene': 'ETFBKMT', 'score': 0.77}, {'connected_gene': 'GC12P031714', 'score': 0.21}]
chr12	GH12I031681	31681967	31682899	1.1	[{'connected_gene': 'DNM1L', 'score': 10.38}, {'connected_gene': 'GC12P031714', 'score': 0.29}, {'connected_gene': 'ETFBKMT', 'score': 0.28}, {'connected_gene': 'AMN1', 'score': 0.25}]
chr12	GH12I032050	32050949	32054665	1.54	[{'connected_gene': 'LOC100420981', 'score': 16.61}, {'connected_gene': 'DDX11', 'score': 12.53}, {'connected_gene': 'KIAA1551', 'score': 10.4}, {'connected_gene': 'H3F3C', 'score': 7.17}, {'connected_gene': 'AMN1', 'score': 6.95}, {'connected_gene': 'ETFBKMT', 'score': 4.47}, {'connected_gene': 'ENSG00000257852', 'score': 0.37}, {'connected_gene': 'ENSG00000257094', 'score': 0.25}]
chr12	GH12I031311	31311526	31311612	0.24	[{'connected_gene': 'ENSG00000256176', 'score': 550.77}, {'connected_gene': 'ETFBKMT', 'score': 9.7}, {'connected_gene': 'SINHCAF', 'score': 0.37}, {'connected_gene': 'ENSG00000275097', 'score': 0.29}]
chr12	GH12I031383	31383611	31387986	0.74	[{'connected_gene': 'GC12M031382', 'score': 550.77}, {'connected_gene': 'DENND5B', 'score': 15.1}, {'connected_gene': 'ETFBKMT', 'score': 10.41}, {'connected_gene': 'SINHCAF', 'score': 10.35}, {'connected_gene': 'DENND5B-AS1', 'score': 10.05}, {'connected_gene': 'RNU5F-4P', 'score': 10.05}, {'connected_gene': 'AK4P3', 'score': 4.78}, {'connected_gene': 'GC12P031398', 'score': 0.39}]
chr12	GH12I031640	31640890	31642155	0.62	[{'connected_gene': 'GC12P031641', 'score': 550.77}, {'connected_gene': 'RNU6-618P', 'score': 11.83}, {'connected_gene': 'RNU5F-4P', 'score': 10.93}, {'connected_gene': 'DENND5B-AS1', 'score': 10.91}, {'connected_gene': 'DENND5B', 'score': 10.91}, {'connected_gene': 'ETFBKMT', 'score': 0.44}]
chr12	GH12I031406	31406097	31407820	0.68	[{'connected_gene': 'GC12M031399', 'score': 550.77}, {'connected_gene': 'DENND5B-AS1', 'score': 11.29}, {'connected_gene': 'DENND5B', 'score': 11.29}, {'connected_gene': 'RNU5F-4P', 'score': 11.28}, {'connected_gene': 'SINHCAF', 'score': 11.21}, {'connected_gene': 'ETFBKMT', 'score': 11.05}, {'connected_gene': 'AK4P3', 'score': 7.53}, {'connected_gene': 'PIR36644', 'score': 0.44}]