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
ENST00000227524	[[60658201, 60658735], [60665317, 60665423], [60665572, 60665743], [60666012, 60666098], [60666333, 60666403], [60666620, 60666776], [60668053, 60668163], [60668325, 60668401], [60668766, 60668841], [60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60673835, 60674060]]	[[60658637, 60658735], [60665317, 60665423], [60665572, 60665743], [60666012, 60666098], [60666333, 60666403], [60666620, 60666776], [60668053, 60668163], [60668325, 60668401], [60668766, 60668841], [60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60673835, 60673854]]
ENST00000540473	[[60658207, 60658262], [60668781, 60668841], [60668970, 60669012], [60669874, 60669886]]	[[60658238, 60658262], [60668781, 60668841], [60668970, 60669012], [60669874, 60669886]]
ENST00000535326	[[60658218, 60658735], [60665317, 60665423], [60666012, 60666098], [60666333, 60666403]]	[[60658637, 60658735], [60665317, 60665423], [60666012, 60666098], [60666333, 60666403]]
ENST00000539960	[[60665021, 60665423], [60665572, 60665743], [60666012, 60666098], [60666333, 60666403], [60666620, 60666687]]	None
ENST00000539180	[[60665351, 60665423], [60665572, 60665941]]	None
ENST00000541371	[[60666012, 60666050], [60668325, 60668401], [60668766, 60668841], [60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60673835, 60674041]]	[[60666012, 60666050], [60668325, 60668401], [60668766, 60668841], [60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60673835, 60673854]]
ENST00000546152	[[60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60672836, 60672924], [60673835, 60674013]]	[[60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670344]]
NM_014502	[[60658018, 60658735], [60665317, 60665423], [60665572, 60665743], [60666012, 60666098], [60666333, 60666403], [60666620, 60666776], [60668053, 60668163], [60668325, 60668401], [60668766, 60668841], [60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60673835, 60674061]]	[[60658637, 60658735], [60665317, 60665423], [60665572, 60665743], [60666012, 60666098], [60666333, 60666403], [60666620, 60666776], [60668053, 60668163], [60668325, 60668401], [60668766, 60668841], [60668970, 60669012], [60669874, 60669937], [60670054, 60670128], [60670211, 60670353], [60670930, 60671007], [60671183, 60671333], [60673835, 60673854]]

Promoter

Chrom	Start	End	Description
chr11	60673902	60673913	CAGE_peak_3_at_PRPF19_5end
chr11	60674000	60674029	CAGE_peak_2_at_PRPF19_5end
chr11	60674037	60674079	CAGE_peak_1_at_PRPF19_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I060898	60898877	60900098	0.92	[{'connected_gene': 'CPSF7', 'score': 19.58}, {'connected_gene': 'TMEM138', 'score': 16.37}, {'connected_gene': 'RN7SL23P', 'score': 15.65}, {'connected_gene': 'CCDC86', 'score': 12.03}, {'connected_gene': 'ENSG00000255959', 'score': 12.03}, {'connected_gene': 'TMEM109', 'score': 11.4}, {'connected_gene': 'PTGDR2', 'score': 11.08}, {'connected_gene': 'ENSG00000256813', 'score': 11.06}, {'connected_gene': 'MS4A10', 'score': 10.54}, {'connected_gene': 'PRPF19', 'score': 7.73}, {'connected_gene': 'PIR47747', 'score': 0.31}]
chr11	GH11I060875	60875327	60876453	0.2	[{'connected_gene': 'CCDC86', 'score': 12.12}, {'connected_gene': 'ENSG00000255959', 'score': 12.12}, {'connected_gene': 'ENSG00000257052', 'score': 10.64}, {'connected_gene': 'PRPF19', 'score': 10.64}, {'connected_gene': 'MS4A10', 'score': 10.55}, {'connected_gene': 'ENSG00000255845', 'score': 10.23}, {'connected_gene': 'PIR47747', 'score': 0.77}, {'connected_gene': 'ZP1', 'score': 0.44}]
chr11	GH11I060774	60774988	60776001	1.02	[{'connected_gene': 'CCDC86', 'score': 11.37}, {'connected_gene': 'ENSG00000255959', 'score': 11.37}, {'connected_gene': 'ENSG00000255845', 'score': 11.06}, {'connected_gene': 'PRPF19', 'score': 10.29}, {'connected_gene': 'ENSG00000257052', 'score': 10.29}, {'connected_gene': 'MS4A10', 'score': 0.44}, {'connected_gene': 'MS4A15', 'score': 0.37}]
chr11	GH11I060840	60840273	60846221	2.28	[{'connected_gene': 'CCDC86', 'score': 557.65}, {'connected_gene': 'ENSG00000255959', 'score': 550.77}, {'connected_gene': 'PRPF19', 'score': 8.08}, {'connected_gene': 'PTGDR2', 'score': 7.22}, {'connected_gene': 'SLC15A3', 'score': 5.21}, {'connected_gene': 'ENSG00000256813', 'score': 0.44}, {'connected_gene': 'GC11P060851', 'score': 0.44}, {'connected_gene': 'PIR48769', 'score': 0.44}]
chr11	GH11I060909	60909359	60918120	2.74	[{'connected_gene': 'TMEM109', 'score': 555.54}, {'connected_gene': 'GC11M060911', 'score': 550.77}, {'connected_gene': 'LOC105369323', 'score': 550.77}, {'connected_gene': 'CD6', 'score': 12.23}, {'connected_gene': 'CD5', 'score': 10.42}, {'connected_gene': 'PRPF19', 'score': 9.11}, {'connected_gene': 'PTGDR2', 'score': 8.31}, {'connected_gene': 'SLC15A3', 'score': 5.32}, {'connected_gene': 'CYB561A3', 'score': 2.5}, {'connected_gene': 'VPS37C', 'score': 2.14}, {'connected_gene': 'ENSG00000257052', 'score': 0.44}, {'connected_gene': 'PIR49215', 'score': 0.44}, {'connected_gene': 'GC11P060908', 'score': 0.44}]
chr11	GH11I060892	60892598	60893268	0.46	[{'connected_gene': 'TMEM132A', 'score': 7.77}, {'connected_gene': 'PRPF19', 'score': 7.57}, {'connected_gene': 'PIR47747', 'score': 0.34}]
chr11	GH11I061355	61355601	61364150	2.48	[{'connected_gene': 'TMEM138', 'score': 577.07}, {'connected_gene': 'CYB561A3', 'score': 550.77}, {'connected_gene': 'CPSF7', 'score': 31.52}, {'connected_gene': 'PRPF19', 'score': 13.88}, {'connected_gene': 'TMEM216', 'score': 13.0}, {'connected_gene': 'RN7SL23P', 'score': 12.96}, {'connected_gene': 'SDHAF2', 'score': 12.86}, {'connected_gene': 'VPS37C', 'score': 11.01}, {'connected_gene': 'TMEM109', 'score': 9.91}, {'connected_gene': 'ENSG00000279246', 'score': 0.44}]
chr11	GH11I060950	60950045	60954947	2.06	[{'connected_gene': 'SLC15A3', 'score': 569.06}, {'connected_gene': 'VPS37C', 'score': 12.39}, {'connected_gene': 'RNU6-933P', 'score': 11.56}, {'connected_gene': 'CPSF7', 'score': 11.12}, {'connected_gene': 'MS4A18', 'score': 9.23}, {'connected_gene': 'PTGDR2', 'score': 6.46}, {'connected_gene': 'PRPF19', 'score': 5.27}, {'connected_gene': 'MS4A2', 'score': 4.03}, {'connected_gene': 'CYB561A3', 'score': 2.25}, {'connected_gene': 'SDHAF2', 'score': 2.04}, {'connected_gene': 'GC11P060938', 'score': 0.39}]
chr11	GH11I060904	60904328	60907599	2.22	[{'connected_gene': 'PRPF19', 'score': 559.44}, {'connected_gene': 'ENSG00000257052', 'score': 550.77}, {'connected_gene': 'PIR49215', 'score': 550.77}, {'connected_gene': 'GC11P060908', 'score': 550.77}, {'connected_gene': 'PTGDR2', 'score': 8.46}, {'connected_gene': 'PIR47747', 'score': 0.29}]
chr11	GH11I060890	60890149	60890338	0.88	[{'connected_gene': 'PRPF19', 'score': 0.37}, {'connected_gene': 'PIR47747', 'score': 0.37}]
chr11	GH11I060887	60887628	60887797	0.7	[{'connected_gene': 'PRPF19', 'score': 0.37}, {'connected_gene': 'PIR47747', 'score': 0.37}]
chr11	GH11I060903	60903483	60904063	0.2	[{'connected_gene': 'PRPF19', 'score': 0.77}, {'connected_gene': 'PIR47747', 'score': 0.29}]
chr11	GH11I060891	60890684	60892132	1.02	[{'connected_gene': 'PRPF19', 'score': 0.37}, {'connected_gene': 'PIR47747', 'score': 0.34}]
chr11	GH11I060877	60877995	60879431	0.2	[{'connected_gene': 'PTGDR2', 'score': 12.2}, {'connected_gene': 'ENSG00000256813', 'score': 12.17}, {'connected_gene': 'CCDC86', 'score': 12.14}, {'connected_gene': 'ENSG00000255959', 'score': 12.14}, {'connected_gene': 'ENSG00000257052', 'score': 10.72}, {'connected_gene': 'PRPF19', 'score': 10.72}, {'connected_gene': 'MS4A10', 'score': 10.63}, {'connected_gene': 'ENSG00000255845', 'score': 10.22}, {'connected_gene': 'MS4A18', 'score': 9.79}, {'connected_gene': 'PIR47747', 'score': 0.44}]
chr11	GH11I060939	60939146	60945222	0.79	[{'connected_gene': 'PTGDR2', 'score': 8.29}, {'connected_gene': 'PRPF19', 'score': 8.09}, {'connected_gene': 'TMEM132A', 'score': 6.12}, {'connected_gene': 'GC11P060938', 'score': 0.77}, {'connected_gene': 'SLC15A3', 'score': 0.39}]
chr11	GH11I060947	60947627	60948862	0.38	[{'connected_gene': 'PTGDR2', 'score': 6.9}, {'connected_gene': 'PRPF19', 'score': 6.01}, {'connected_gene': 'TMEM132A', 'score': 5.02}, {'connected_gene': 'SLC15A3', 'score': 0.77}, {'connected_gene': 'GC11P060938', 'score': 0.44}]
chr11	GH11I060902	60902382	60903324	0.2	[{'connected_gene': 'ENSG00000255959', 'score': 11.33}, {'connected_gene': 'CCDC86', 'score': 11.32}, {'connected_gene': 'PRPF19', 'score': 0.77}, {'connected_gene': 'PIR47747', 'score': 0.29}]
chr11	GH11I060851	60851320	60853729	0.8	[{'connected_gene': 'GC11P060851', 'score': 550.77}, {'connected_gene': 'ENSG00000256813', 'score': 550.77}, {'connected_gene': 'PIR48769', 'score': 550.77}, {'connected_gene': 'TMEM216', 'score': 11.62}, {'connected_gene': 'CPSF7', 'score': 11.01}, {'connected_gene': 'PRPF19', 'score': 7.44}, {'connected_gene': 'SLC15A3', 'score': 5.55}, {'connected_gene': 'MS4A2', 'score': 4.27}, {'connected_gene': 'PTGDR2', 'score': 0.77}]
chr11	GH11I060871	60871313	60874045	1.05	[{'connected_gene': 'PIR47747', 'score': 550.77}, {'connected_gene': 'PRPF19', 'score': 19.31}, {'connected_gene': 'ENSG00000255959', 'score': 12.13}, {'connected_gene': 'CCDC86', 'score': 12.12}, {'connected_gene': 'ENSG00000257052', 'score': 10.64}, {'connected_gene': 'MS4A10', 'score': 10.56}, {'connected_gene': 'ENSG00000255845', 'score': 10.23}, {'connected_gene': 'ZP1', 'score': 0.44}]
chr11	GH11I060880	60880701	60881341	0.91	[{'connected_gene': 'ENSG00000256813', 'score': 12.17}, {'connected_gene': 'PTGDR2', 'score': 12.17}, {'connected_gene': 'CCDC86', 'score': 12.14}, {'connected_gene': 'ENSG00000255959', 'score': 12.14}, {'connected_gene': 'PRPF19', 'score': 10.72}, {'connected_gene': 'ENSG00000257052', 'score': 10.72}, {'connected_gene': 'MS4A18', 'score': 9.29}, {'connected_gene': 'PIR47747', 'score': 0.44}]