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
ENST00000297347	[[118532951, 118533292], [118540889, 118541048], [118542961, 118543066], [118552121, 118552501]]	[[118533115, 118533292], [118540889, 118541048], [118542961, 118543066], [118552121, 118552217]]
ENST00000519879	[[118533002, 118533292], [118540889, 118541144]]	None
ENST00000522839	[[118533071, 118533292], [118540889, 118541048], [118552121, 118552217]]	[[118533115, 118533292], [118540889, 118541048], [118552121, 118552217]]
ENST00000519391	[[118542602, 118543066], [118552121, 118552241]]	None
NM_001282986	[[118532951, 118533292], [118540889, 118541048], [118552121, 118552501]]	[[118533115, 118533292], [118540889, 118541048], [118552121, 118552217]]
NM_080651	[[118532951, 118533292], [118540889, 118541048], [118542961, 118543066], [118552121, 118552501]]	[[118533115, 118533292], [118540889, 118541048], [118542961, 118543066], [118552121, 118552217]]

Promoter

Chrom	Start	End	Description
chr8	118532937	118532997	CAGE_peak_1_at_MED30_5end
chr8	118533006	118533046	CAGE_peak_2_at_MED30_5end
chr8	118533049	118533074	CAGE_peak_4_at_MED30_5end
chr8	118533085	118533091	CAGE_peak_5_at_MED30_5end
chr8	118533099	118533115	CAGE_peak_3_at_MED30_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I118014	118014273	118022069	1.26	[{'connected_gene': 'MED30', 'score': 23.44}, {'connected_gene': 'EXT1', 'score': 10.27}, {'connected_gene': 'GC08M118034', 'score': 0.37}, {'connected_gene': 'GC08M117980', 'score': 0.31}]
chr8	GH08I118065	118065032	118066345	0.8	[{'connected_gene': 'MED30', 'score': 51.42}, {'connected_gene': 'EXT1', 'score': 10.38}, {'connected_gene': 'GC08M118085', 'score': 0.34}, {'connected_gene': 'GC08M118034', 'score': 0.29}]
chr8	GH08I118066	118066497	118070265	0.76	[{'connected_gene': 'MED30', 'score': 43.37}, {'connected_gene': 'EXT1', 'score': 11.52}, {'connected_gene': 'GC08M118085', 'score': 0.37}, {'connected_gene': 'GC08M118034', 'score': 0.29}]
chr8	GH08I118126	118126282	118127476	1.17	[{'connected_gene': 'MED30', 'score': 51.42}, {'connected_gene': 'LOC105375724', 'score': 10.08}, {'connected_gene': 'EXT1', 'score': 0.37}, {'connected_gene': 'ENSG00000279535', 'score': 0.21}]
chr8	GH08I117519	117519762	117522196	2.05	[{'connected_gene': 'MED30', 'score': 558.04}, {'connected_gene': 'LOC105375716', 'score': 550.77}, {'connected_gene': 'UTP23', 'score': 25.41}, {'connected_gene': 'EIF3H', 'score': 11.97}, {'connected_gene': 'EXT1', 'score': 9.36}, {'connected_gene': 'RPS10P16', 'score': 0.77}]
chr8	GH08I117438	117438879	117440854	1.01	[{'connected_gene': 'MED30', 'score': 1.43}, {'connected_gene': 'LOC105375716', 'score': 0.18}, {'connected_gene': 'GC08M117324', 'score': 0.15}]
chr8	GH08I116754	116754529	116756600	2.02	[{'connected_gene': 'EIF3H', 'score': 560.15}, {'connected_gene': 'MED30', 'score': 26.69}, {'connected_gene': 'UTP23', 'score': 16.36}, {'connected_gene': 'LOC105375713', 'score': 0.14}]
chr8	GH08I117618	117618905	117620492	0.83	[{'connected_gene': 'UTP23', 'score': 14.94}, {'connected_gene': 'MED30', 'score': 13.97}, {'connected_gene': 'LOC105375721', 'score': 0.16}, {'connected_gene': 'RPS10P16', 'score': 0.15}]
chr8	GH08I117729	117729025	117733018	1.04	[{'connected_gene': 'UTP23', 'score': 10.41}, {'connected_gene': 'MED30', 'score': 9.89}, {'connected_gene': 'LOC105375721', 'score': 0.37}, {'connected_gene': 'GC08P117840', 'score': 0.14}]
chr8	GH08I116765	116765379	116768303	2.06	[{'connected_gene': 'UTP23', 'score': 565.0}, {'connected_gene': 'EIF3H', 'score': 562.72}, {'connected_gene': 'MED30', 'score': 10.37}, {'connected_gene': 'RAD21', 'score': 5.15}]
chr8	GH08I116869	116869927	116875471	2.48	[{'connected_gene': 'RAD21', 'score': 564.65}, {'connected_gene': 'RAD21-AS1', 'score': 550.77}, {'connected_gene': 'MED30', 'score': 10.37}, {'connected_gene': 'UTP23', 'score': 8.34}, {'connected_gene': 'MIR3610', 'score': 0.77}, {'connected_gene': 'GC08P116801', 'score': 0.19}]
chr8	GH08I118072	118072667	118076054	1.16	[{'connected_gene': 'EXT1', 'score': 11.53}, {'connected_gene': 'MED30', 'score': 4.29}, {'connected_gene': 'GC08M118085', 'score': 0.39}, {'connected_gene': 'GC08M118075', 'score': 0.31}, {'connected_gene': 'GC08M118034', 'score': 0.28}]
chr8	GH08I117954	117954042	117960073	1.45	[{'connected_gene': 'EXT1', 'score': 17.14}, {'connected_gene': 'MED30', 'score': 1.37}, {'connected_gene': 'GC08M117980', 'score': 0.28}, {'connected_gene': 'GC08P117918', 'score': 0.28}]
chr8	GH08I117936	117936962	117938442	1.16	[{'connected_gene': 'EXT1', 'score': 10.46}, {'connected_gene': 'MED30', 'score': 9.86}, {'connected_gene': 'GC08P117918', 'score': 0.37}, {'connected_gene': 'GC08M117980', 'score': 0.23}]