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
ENST00000367903	[[163116845, 163117293], [163122339, 163122506], [163131704, 163131766], [163138047, 163138158], [163142347, 163142382], [163187315, 163187426]]	[[163117131, 163117293], [163122339, 163122506], [163131704, 163131766], [163138047, 163138158], [163142347, 163142382], [163187315, 163187384]]
ENST00000531954	[[163117263, 163117293], [163122339, 163122506], [163131704, 163131766], [163138047, 163138158], [163276022, 163276119], [163291411, 163291525]]	None
ENST00000530241	[[163122399, 163122506], [163131704, 163131766], [163138047, 163138158], [163218319, 163218388], [163276022, 163276119], [163291411, 163291541]]	None
ENST00000534288	[[163122439, 163122506], [163131704, 163131766], [163138047, 163138158], [163276022, 163276119], [163278333, 163278421], [163291411, 163291577]]	None
ENST00000428971	[[163131743, 163131766], [163138047, 163138158], [163276022, 163276119], [163278333, 163278421], [163288971, 163289081], [163291411, 163291562]]	None
ENST00000469495	[[163080910, 163081107], [163122339, 163122506]]	None
ENST00000313961	[[163112093, 163117293], [163122339, 163122506], [163131704, 163131766], [163138047, 163138158], [163172581, 163172903]]	[[163117131, 163117293], [163122339, 163122506], [163131704, 163131766], [163138047, 163138158], [163172581, 163172625]]
ENST00000530507	[[163116906, 163117293], [163122327, 163122506], [163131704, 163131766], [163138047, 163138158], [163172581, 163172693]]	[[163117131, 163117293], [163122327, 163122506], [163131704, 163131766], [163138047, 163138158], [163172581, 163172625]]
ENST00000527988	[[163117131, 163117293], [163122339, 163122506], [163172581, 163172625]]	[[163117131, 163117293], [163122339, 163122399]]
ENST00000525894	[[163122262, 163122506], [163131704, 163131766], [163138047, 163138158], [163172581, 163172705]]	None
ENST00000531476	[[163122397, 163122506], [163131704, 163131766], [163172581, 163172688]]	[[163122397, 163122506], [163131704, 163131766], [163172581, 163172625]]
ENST00000451759	[[163214294, 163214821], [163218319, 163218496], [163276022, 163276119], [163278333, 163278367]]	None
ENST00000449680	[[163218064, 163218496], [163276022, 163276119], [163278333, 163278421], [163291411, 163291582]]	None
ENST00000427213	[[163218108, 163218496], [163276022, 163276119], [163291411, 163291542]]	None
ENST00000429865	[[163270185, 163270481], [163276022, 163276119], [163278333, 163278421], [163291411, 163291684]]	None
ENST00000528019	[[163270347, 163270481], [163276022, 163276119], [163278333, 163278421], [163288971, 163289081], [163291411, 163291494]]	None
ENST00000528689	[[163270452, 163270481], [163274992, 163275103], [163276022, 163276119], [163278333, 163278421], [163288971, 163289081], [163291411, 163291542]]	None
ENST00000439699	[[163274000, 163275103], [163276022, 163276119], [163288971, 163289081], [163291411, 163291542]]	None
ENST00000528818	[[163288627, 163289081], [163291411, 163291531]]	None
ENST00000526176	[[163289016, 163289081], [163291055, 163291564]]	None
NM_001254748	[[163112088, 163117293], [163122339, 163122506], [163131704, 163131766], [163138047, 163138158], [163276022, 163276119], [163291411, 163291581]]	[[163117131, 163117293], [163122339, 163122399]]
NM_001254749	[[163112088, 163117293], [163122327, 163122506], [163131704, 163131766], [163138047, 163138158], [163172581, 163172963]]	[[163117131, 163117293], [163122327, 163122506], [163131704, 163131766], [163138047, 163138158], [163172581, 163172625]]
NM_003617	[[163112088, 163117293], [163122339, 163122506], [163131704, 163131766], [163138047, 163138158], [163172581, 163172963]]	[[163117131, 163117293], [163122339, 163122506], [163131704, 163131766], [163138047, 163138158], [163172581, 163172625]]
NM_001195303	[[163112088, 163117293], [163122339, 163122506], [163172581, 163172963]]	[[163117131, 163117293], [163122339, 163122399]]
NR_045630	[[163273995, 163275103], [163276022, 163276119], [163288971, 163289081], [163291411, 163291581]]	None

Promoter

Chrom	Start	End	Description
chr1	163112885	163112906	CAGE_peak_6_at_RGS5_5end
chr1	163113043	163113054	CAGE_peak_9_at_RGS5_5end
chr1	163113065	163113115	CAGE_peak_3_at_RGS5_5end
chr1	163113127	163113137	CAGE_peak_5_at_RGS5_5end
chr1	163114878	163114901	CAGE_peak_4_at_RGS5_5end
chr1	163172695	163172712	CAGE_peak_1_at_RGS5_5end
chr1	163291493	163291582	CAGE_peak_2_at_RGS5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I163201	163201706	163203981	1.19	[{'connected_gene': 'RGS5', 'score': 550.13}, {'connected_gene': 'LOC101928404', 'score': 11.17}, {'connected_gene': 'RGS4', 'score': 10.28}, {'connected_gene': 'ENSG00000232995', 'score': 6.32}, {'connected_gene': 'LOC100113374', 'score': 0.29}]
chr1	GH01I163320	163320586	163323733	2.17	[{'connected_gene': 'NUF2', 'score': 569.0}, {'connected_gene': 'ENSG00000232995', 'score': 557.98}, {'connected_gene': 'RGS5', 'score': 550.77}, {'connected_gene': 'ENSG00000272574', 'score': 22.41}, {'connected_gene': 'DDR2', 'score': 12.53}, {'connected_gene': 'RGS4', 'score': 9.97}, {'connected_gene': 'UAP1', 'score': 9.87}, {'connected_gene': 'LOC101928404', 'score': 9.5}, {'connected_gene': 'LOC100422212', 'score': 0.15}]
chr1	GH01I163231	163231277	163232144	0.58	[{'connected_gene': 'NUF2', 'score': 11.38}, {'connected_gene': 'RGS4', 'score': 9.53}, {'connected_gene': 'ENSG00000232995', 'score': 5.7}, {'connected_gene': 'LOC100113374', 'score': 0.44}, {'connected_gene': 'LOC101928404', 'score': 0.19}, {'connected_gene': 'RGS5', 'score': 0.16}]
chr1	GH01I163174	163174802	163175216	0.82	[{'connected_gene': 'RGS4', 'score': 10.48}, {'connected_gene': 'RGS5', 'score': 10.37}, {'connected_gene': 'LOC101928404', 'score': 0.39}, {'connected_gene': 'LOC100113374', 'score': 0.21}]
chr1	GH01I163166	163166468	163168889	0.8	[{'connected_gene': 'RGS4', 'score': 4.73}, {'connected_gene': 'LOC101928404', 'score': 0.44}, {'connected_gene': 'LOC100113374', 'score': 0.2}, {'connected_gene': 'RGS5', 'score': 0.1}]
chr1	GH01I163195	163195642	163197337	0.72	[{'connected_gene': 'LOC101928404', 'score': 11.46}, {'connected_gene': 'RGS5', 'score': 10.91}, {'connected_gene': 'NUF2', 'score': 10.38}, {'connected_gene': 'ENSG00000232995', 'score': 4.96}, {'connected_gene': 'LOC100113374', 'score': 0.26}]
chr1	GH01I163128	163128594	163128692	0.49	[{'connected_gene': 'LOC101928404', 'score': 11.27}, {'connected_gene': 'RGS4', 'score': 10.73}, {'connected_gene': 'RGS5', 'score': 4.35}]
chr1	GH01I163162	163162302	163163206	0.38	[{'connected_gene': 'LOC101928404', 'score': 550.77}, {'connected_gene': 'LOC100113374', 'score': 0.19}, {'connected_gene': 'RGS5', 'score': 0.1}]
chr1	GH01I163200	163200601	163200800	0.31	[{'connected_gene': 'LOC101928404', 'score': 11.18}, {'connected_gene': 'LOC100113374', 'score': 0.28}, {'connected_gene': 'RGS5', 'score': 0.13}]
chr1	GH01I163164	163164211	163164360	0.38	[{'connected_gene': 'LOC101928404', 'score': 0.77}, {'connected_gene': 'LOC100113374', 'score': 0.19}, {'connected_gene': 'RGS5', 'score': 0.1}]
chr1	GH01I163169	163169920	163173835	0.82	[{'connected_gene': 'LOC101928404', 'score': 0.39}, {'connected_gene': 'LOC100113374', 'score': 0.2}, {'connected_gene': 'RGS5', 'score': 0.11}]
chr1	GH01I163307	163307071	163308490	0.46	[{'connected_gene': 'ENSG00000232995', 'score': 19.88}, {'connected_gene': 'NUF2', 'score': 11.15}, {'connected_gene': 'RGS4', 'score': 9.89}, {'connected_gene': 'GC01P163316', 'score': 0.44}, {'connected_gene': 'RGS5', 'score': 0.39}, {'connected_gene': 'PIR46310', 'score': 0.39}]
chr1	GH01I163258	163258371	163258460	0.43	[{'connected_gene': 'ENSG00000237756', 'score': 550.77}, {'connected_gene': 'LOC100113374', 'score': 0.34}, {'connected_gene': 'RGS5', 'score': 0.21}, {'connected_gene': 'ENSG00000232995', 'score': 0.21}]