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
ENST00000406581	[[44154285, 44154544], [44154893, 44154995], [44155364, 44155492], [44155713, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161794], [44161880, 44162058], [44162777, 44163107]]	[[44154383, 44154544], [44154893, 44154995], [44155364, 44155492], [44155713, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161652]]
ENST00000489883	[[44154286, 44154544], [44154893, 44155163]]	None
ENST00000223361	[[44154297, 44154544], [44154893, 44154953], [44155364, 44155492], [44155713, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161795]]	[[44154383, 44154544], [44154893, 44154953], [44155364, 44155492], [44155713, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161652]]
ENST00000452185	[[44154383, 44154544], [44154893, 44154995], [44155364, 44155492], [44155713, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161881], [44163109, 44163129]]	[[44154383, 44154544], [44154893, 44154995], [44155364, 44155492], [44155713, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161652]]
ENST00000436400	[[44155419, 44155492], [44155713, 44155808], [44156028, 44156109]]	[[44155419, 44155492], [44155713, 44155808], [44156028, 44156109]]
ENST00000436844	[[44155715, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44161432, 44161708], [44163109, 44163136]]	[[44155715, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44161432, 44161652]]
ENST00000481104	[[44156501, 44156614], [44156731, 44157159]]	None
ENST00000433715	[[44156535, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161708], [44163908, 44163957]]	[[44156535, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161652]]
ENST00000463464	[[44156661, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161708]]	None
ENST00000470867	[[44156747, 44156846], [44157182, 44157341], [44157541, 44157663], [44161432, 44161708], [44163109, 44163131]]	None
ENST00000464871	[[44156912, 44157341], [44157541, 44157692]]	None
ENST00000461116	[[44157115, 44157341], [44157541, 44157663], [44161432, 44161504]]	None
ENST00000467469	[[44157175, 44157341], [44157541, 44157903]]	None
ENST00000456038	[[44157217, 44157341], [44157541, 44157663], [44161432, 44161708], [44162485, 44162628]]	[[44157217, 44157341], [44157541, 44157663], [44161432, 44161652]]
ENST00000418438	[[44157239, 44157341], [44157541, 44157663], [44161432, 44161708], [44163211, 44163267]]	[[44157239, 44157341], [44157541, 44157663], [44161432, 44161652]]
ENST00000496539	[[44157391, 44157663], [44161432, 44161708], [44163109, 44163132]]	None
ENST00000481763	[[44161686, 44161708], [44161880, 44162058], [44162485, 44163095]]	None
NM_001256879	[[44154278, 44154544], [44154893, 44154995], [44155364, 44155492], [44155713, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161794], [44161880, 44162058], [44162777, 44163107]]	[[44154383, 44154544], [44154893, 44154995], [44155364, 44155492], [44155713, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161652]]
NM_001127218	[[44154278, 44154544], [44154893, 44154995], [44155364, 44155492], [44155713, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161881], [44163109, 44163169]]	[[44154383, 44154544], [44154893, 44154995], [44155364, 44155492], [44155713, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161652]]
NM_006230	[[44154278, 44154544], [44154893, 44154995], [44155364, 44155492], [44155713, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161708], [44163109, 44163169]]	[[44154383, 44154544], [44154893, 44154995], [44155364, 44155492], [44155713, 44155871], [44156028, 44156109], [44156415, 44156614], [44156731, 44156846], [44157217, 44157341], [44157541, 44157663], [44161432, 44161708], [44163109, 44163158]]

Promoter

Chrom	Start	End	Description
chr7	44156487	44156516	CAGE_peak_2_at_POLD2_5end
chr7	44163126	44163155	CAGE_peak_1_at_POLD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I044465	44465869	44472006	0.71	[{'connected_gene': 'RPL32P18', 'score': 550.77}, {'connected_gene': 'PIR31596', 'score': 550.77}, {'connected_gene': 'GC07M044468', 'score': 550.77}, {'connected_gene': 'NUDCD3', 'score': 42.03}, {'connected_gene': 'RNU6-1097P', 'score': 11.98}, {'connected_gene': 'NPC1L1', 'score': 10.82}, {'connected_gene': 'CAMK2B', 'score': 10.73}, {'connected_gene': 'POLD2', 'score': 9.94}, {'connected_gene': 'AEBP1', 'score': 9.51}]
chr7	GH07I044196	44196482	44196631	0.67	[{'connected_gene': 'GCK', 'score': 550.77}, {'connected_gene': 'MYL7', 'score': 12.36}, {'connected_gene': 'POLD2', 'score': 12.33}, {'connected_gene': 'RNA5SP230', 'score': 12.33}, {'connected_gene': 'POLM', 'score': 11.33}, {'connected_gene': 'AEBP1', 'score': 11.26}, {'connected_gene': 'LOC105375257', 'score': 0.34}]
chr7	GH07I044159	44159272	44159331	0.96	[{'connected_gene': 'GCK', 'score': 550.28}, {'connected_gene': 'POLD2', 'score': 12.16}, {'connected_gene': 'RNA5SP230', 'score': 12.16}, {'connected_gene': 'AEBP1', 'score': 11.66}, {'connected_gene': 'POLM', 'score': 11.3}, {'connected_gene': 'PGAM2', 'score': 11.01}, {'connected_gene': 'ENSG00000239775', 'score': 11.01}, {'connected_gene': 'LOC105375257', 'score': 0.39}, {'connected_gene': 'LOC105375258', 'score': 0.39}]
chr7	GH07I044163	44162549	44164496	0.65	[{'connected_gene': 'MYL7', 'score': 12.2}, {'connected_gene': 'POLD2', 'score': 12.14}, {'connected_gene': 'RNA5SP230', 'score': 12.14}, {'connected_gene': 'AEBP1', 'score': 11.65}, {'connected_gene': 'PGAM2', 'score': 11.54}, {'connected_gene': 'ENSG00000239775', 'score': 11.54}, {'connected_gene': 'POLM', 'score': 11.3}, {'connected_gene': 'URGCP', 'score': 4.49}, {'connected_gene': 'LOC105375257', 'score': 0.44}, {'connected_gene': 'LOC105375258', 'score': 0.37}, {'connected_gene': 'GCK', 'score': 0.29}]
chr7	GH07I044162	44162342	44162491	0.68	[{'connected_gene': 'MYL7', 'score': 12.2}, {'connected_gene': 'POLD2', 'score': 12.14}, {'connected_gene': 'RNA5SP230', 'score': 12.14}, {'connected_gene': 'AEBP1', 'score': 11.65}, {'connected_gene': 'POLM', 'score': 11.3}, {'connected_gene': 'PGAM2', 'score': 11.0}, {'connected_gene': 'ENSG00000239775', 'score': 11.0}, {'connected_gene': 'LOC105375257', 'score': 0.44}, {'connected_gene': 'LOC105375258', 'score': 0.39}, {'connected_gene': 'GCK', 'score': 0.28}]
chr7	GH07I044194	44194483	44195448	0.54	[{'connected_gene': 'MYL7', 'score': 12.37}, {'connected_gene': 'RNA5SP230', 'score': 12.35}, {'connected_gene': 'POLD2', 'score': 12.33}, {'connected_gene': 'POLM', 'score': 11.33}, {'connected_gene': 'AEBP1', 'score': 11.26}, {'connected_gene': 'YKT6', 'score': 7.59}, {'connected_gene': 'GCK', 'score': 6.61}, {'connected_gene': 'LOC105375257', 'score': 0.34}]
chr7	GH07I044121	44121323	44124756	2.04	[{'connected_gene': 'POLD2', 'score': 550.77}, {'connected_gene': 'POLM', 'score': 32.92}, {'connected_gene': 'TMED4', 'score': 32.88}, {'connected_gene': 'SPDYE1', 'score': 30.09}, {'connected_gene': 'SNORA5B', 'score': 29.27}, {'connected_gene': 'ENSG00000228434', 'score': 28.81}, {'connected_gene': 'DDX56', 'score': 28.48}, {'connected_gene': 'SNORA5C', 'score': 26.14}, {'connected_gene': 'TBRG4', 'score': 18.87}, {'connected_gene': 'TUBG1P', 'score': 15.42}, {'connected_gene': 'URGCP', 'score': 11.83}, {'connected_gene': 'SNORA5A', 'score': 11.44}, {'connected_gene': 'SNHG15', 'score': 10.69}, {'connected_gene': 'NACAD', 'score': 9.84}, {'connected_gene': 'GCK', 'score': 7.72}, {'connected_gene': 'RASA4CP', 'score': 4.39}, {'connected_gene': 'MIR4649', 'score': 0.39}]
chr7	GH07I044090	44090110	44090379	0.52	[{'connected_gene': 'PGAM2', 'score': 12.04}, {'connected_gene': 'ENSG00000239775', 'score': 12.01}, {'connected_gene': 'POLD2', 'score': 11.71}, {'connected_gene': 'POLM', 'score': 0.44}, {'connected_gene': 'AEBP1', 'score': 0.39}]
chr7	GH07I044092	44090404	44091359	0.49	[{'connected_gene': 'PGAM2', 'score': 12.04}, {'connected_gene': 'ENSG00000239775', 'score': 12.01}, {'connected_gene': 'POLD2', 'score': 11.71}, {'connected_gene': 'POLM', 'score': 0.44}, {'connected_gene': 'AEBP1', 'score': 0.39}]
chr7	GH07I044086	44086611	44090017	1.28	[{'connected_gene': 'POLM', 'score': 23.09}, {'connected_gene': 'RASA4CP', 'score': 16.38}, {'connected_gene': 'UBE2D4', 'score': 15.34}, {'connected_gene': 'ENSG00000241057', 'score': 13.4}, {'connected_gene': 'PGAM2', 'score': 12.04}, {'connected_gene': 'ENSG00000239775', 'score': 12.04}, {'connected_gene': 'POLD2', 'score': 11.7}, {'connected_gene': 'AEBP1', 'score': 2.67}, {'connected_gene': 'YKT6', 'score': 1.43}]
chr7	GH07I044091	44091664	44093919	0.59	[{'connected_gene': 'POLM', 'score': 35.4}, {'connected_gene': 'RASA4CP', 'score': 16.76}, {'connected_gene': 'ENSG00000241057', 'score': 15.3}, {'connected_gene': 'UBE2D4', 'score': 13.62}, {'connected_gene': 'PGAM2', 'score': 12.01}, {'connected_gene': 'ENSG00000239775', 'score': 12.01}, {'connected_gene': 'POLD2', 'score': 11.71}, {'connected_gene': 'AEBP1', 'score': 0.39}]
chr7	GH07I044114	44114492	44115858	0.63	[{'connected_gene': 'POLM', 'score': 5.25}, {'connected_gene': 'MIR4649', 'score': 0.77}, {'connected_gene': 'POLD2', 'score': 0.44}, {'connected_gene': 'AEBP1', 'score': 0.39}]
chr7	GH07I044460	44460000	44462086	0.97	[{'connected_gene': 'NUDCD3', 'score': 42.02}, {'connected_gene': 'POLD2', 'score': 10.35}, {'connected_gene': 'AEBP1', 'score': 10.18}, {'connected_gene': 'RPL32P18', 'score': 0.44}, {'connected_gene': 'PIR50224', 'score': 0.2}]
chr7	GH07I044317	44317607	44319041	0.38	[{'connected_gene': 'AEBP1', 'score': 10.09}, {'connected_gene': 'POLM', 'score': 9.92}, {'connected_gene': 'POLD2', 'score': 9.29}, {'connected_gene': 'CAMK2B', 'score': 0.37}, {'connected_gene': 'PIR57733', 'score': 0.14}]
chr7	GH07I044145	44145853	44148321	1.62	[{'connected_gene': 'LOC105375258', 'score': 550.77}, {'connected_gene': 'POLD2', 'score': 10.6}, {'connected_gene': 'GCK', 'score': 9.18}, {'connected_gene': 'MYL7', 'score': 0.44}]
chr7	GH07I044111	44111614	44114056	1	[{'connected_gene': 'MIR4649', 'score': 550.77}, {'connected_gene': 'DDX56', 'score': 16.53}, {'connected_gene': 'POLM', 'score': 12.07}, {'connected_gene': 'SNORA5C', 'score': 11.99}, {'connected_gene': 'ENSG00000228434', 'score': 11.61}, {'connected_gene': 'TMED4', 'score': 11.14}, {'connected_gene': 'SNHG15', 'score': 10.68}, {'connected_gene': 'SNORA5A', 'score': 10.06}, {'connected_gene': 'SPDYE1', 'score': 9.92}, {'connected_gene': 'SNORA5B', 'score': 9.71}, {'connected_gene': 'GCK', 'score': 8.23}, {'connected_gene': 'AEBP1', 'score': 0.44}, {'connected_gene': 'POLD2', 'score': 0.39}]