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
ENST00000294868	[[183217371, 183221878], [183230136, 183230204], [183230336, 183230438], [183247687, 183247764], [183253129, 183253174], [183253844, 183253925], [183255796, 183255923], [183259262, 183259341], [183261924, 183261992], [183262839, 183262928], [183273804, 183274009]]	[[183221775, 183221878], [183230136, 183230204], [183230336, 183230438], [183247687, 183247764], [183253129, 183253174], [183253844, 183253925], [183255796, 183255923], [183259262, 183259341], [183261924, 183261992], [183262839, 183262928], [183273804, 183273874]]
ENST00000287713	[[183217371, 183221878], [183230136, 183230204], [183230336, 183230438], [183247687, 183247764], [183253129, 183253174], [183253844, 183253925], [183255796, 183255923], [183259262, 183259341], [183261924, 183261992], [183262839, 183262928], [183387317, 183387737]]	[[183221775, 183221878], [183230136, 183230204], [183230336, 183230438], [183247687, 183247764], [183253129, 183253174], [183253844, 183253925], [183255796, 183255923], [183259262, 183259341], [183261924, 183261992], [183262839, 183262928], [183387317, 183387402]]
ENST00000464047	[[183221558, 183221878], [183230136, 183230204], [183230336, 183230438], [183247687, 183247820]]	None
ENST00000473046	[[183252000, 183253174], [183253844, 183253925], [183255796, 183255923], [183259262, 183259341], [183259766, 183259878]]	None
NM_170706	[[183217371, 183221878], [183230136, 183230204], [183230336, 183230438], [183247687, 183247764], [183253129, 183253174], [183253844, 183253925], [183255796, 183255923], [183259262, 183259341], [183261924, 183261992], [183262839, 183262928], [183273804, 183274009]]	[[183221775, 183221878], [183230136, 183230204], [183230336, 183230438], [183247687, 183247764], [183253129, 183253174], [183253844, 183253925], [183255796, 183255923], [183259262, 183259341], [183261924, 183261992], [183262839, 183262928], [183273804, 183273874]]
NM_015039	[[183217371, 183221878], [183230136, 183230204], [183230336, 183230438], [183247687, 183247764], [183253129, 183253174], [183253844, 183253925], [183255796, 183255923], [183259262, 183259341], [183261924, 183261992], [183262839, 183262928], [183387317, 183387634]]	[[183221775, 183221878], [183230136, 183230204], [183230336, 183230438], [183247687, 183247764], [183253129, 183253174], [183253844, 183253925], [183255796, 183255923], [183259262, 183259341], [183261924, 183261992], [183262839, 183262928], [183387317, 183387402]]

Promoter

Chrom	Start	End	Description
chr1	183219137	183219155	CAGE_peak_11_at_NMNAT2_5end
chr1	183247759	183247772	CAGE_peak_4_at_NMNAT2_5end
chr1	183247896	183247948	CAGE_peak_3_at_NMNAT2_5end
chr1	183387432	183387443	CAGE_peak_9_at_NMNAT2_5end
chr1	183387459	183387498	CAGE_peak_1_at_NMNAT2_5end
chr1	183387499	183387543	CAGE_peak_2_at_NMNAT2_5end
chr1	183387723	183387763	CAGE_peak_7_at_NMNAT2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I183354	183354794	183356898	0.43	[{'connected_gene': 'NCF2', 'score': 5.21}, {'connected_gene': 'NMNAT2', 'score': 0.21}, {'connected_gene': 'RPS3AP8', 'score': 0.17}]
chr1	GH01I183353	183353453	183354344	0.31	[{'connected_gene': 'NCF2', 'score': 5.24}, {'connected_gene': 'NMNAT2', 'score': 0.21}, {'connected_gene': 'RPS3AP8', 'score': 0.17}]
chr1	GH01I183339	183339260	183340394	0.2	[{'connected_gene': 'NCF2', 'score': 5.79}, {'connected_gene': 'NMNAT2', 'score': 5.01}, {'connected_gene': 'RPS3AP8', 'score': 0.19}]
chr1	GH01I183363	183363600	183364332	0.69	[{'connected_gene': 'NCF2', 'score': 12.56}, {'connected_gene': 'ARPC5', 'score': 3.75}, {'connected_gene': 'NMNAT2', 'score': 0.23}, {'connected_gene': 'RPS3AP8', 'score': 0.15}]
chr1	GH01I183875	183875802	183877873	0.99	[{'connected_gene': 'APOBEC4', 'score': 10.24}, {'connected_gene': 'ENSG00000227554', 'score': 9.97}, {'connected_gene': 'RGL1', 'score': 5.46}, {'connected_gene': 'COLGALT2', 'score': 5.08}, {'connected_gene': 'NMNAT2', 'score': 2.58}, {'connected_gene': 'GC01M183931', 'score': 0.22}]
chr1	GH01I183291	183291600	183292574	0.71	[{'connected_gene': 'LAMC2', 'score': 18.24}, {'connected_gene': 'APOBEC4', 'score': 9.88}, {'connected_gene': 'RPS3AP8', 'score': 0.31}, {'connected_gene': 'NMNAT2', 'score': 0.13}]
chr1	GH01I183287	183287055	183288109	0.84	[{'connected_gene': 'LAMC2', 'score': 6.74}, {'connected_gene': 'NMNAT2', 'score': 2.08}, {'connected_gene': 'RPS3AP8', 'score': 0.34}]
chr1	GH01I183364	183364995	183366005	0.31	[{'connected_gene': 'LAMC2', 'score': 5.57}, {'connected_gene': 'NMNAT2', 'score': 0.23}, {'connected_gene': 'RPS3AP8', 'score': 0.15}]
chr1	GH01I183299	183299940	183300199	0.2	[{'connected_gene': 'LAMC2', 'score': 10.86}, {'connected_gene': 'RPS3AP8', 'score': 0.29}, {'connected_gene': 'NMNAT2', 'score': 0.13}]
chr1	GH01I183263	183263742	183265137	0.31	[{'connected_gene': 'LAMC2', 'score': 7.14}, {'connected_gene': 'RPS3AP8', 'score': 0.77}, {'connected_gene': 'NMNAT2', 'score': 0.1}]
chr1	GH01I183301	183301113	183302000	0.46	[{'connected_gene': 'LAMC2', 'score': 10.85}, {'connected_gene': 'RPS3AP8', 'score': 0.28}, {'connected_gene': 'NMNAT2', 'score': 0.13}]
chr1	GH01I183307	183307608	183308578	0.31	[{'connected_gene': 'LAMC2', 'score': 7.79}, {'connected_gene': 'RPS3AP8', 'score': 0.26}, {'connected_gene': 'NMNAT2', 'score': 0.14}]
chr1	GH01I183326	183326989	183329617	0.2	[{'connected_gene': 'SMG7-AS1', 'score': 7.35}, {'connected_gene': 'SMG7', 'score': 6.15}, {'connected_gene': 'NMNAT2', 'score': 4.68}, {'connected_gene': 'RPS3AP8', 'score': 0.21}]
chr1	GH01I183329	183329703	183332311	0.74	[{'connected_gene': 'SMG7-AS1', 'score': 7.64}, {'connected_gene': 'LAMC2', 'score': 7.38}, {'connected_gene': 'NMNAT2', 'score': 4.79}, {'connected_gene': 'RPS3AP8', 'score': 0.21}]
chr1	GH01I183320	183320631	183321947	0.31	[{'connected_gene': 'SMG7-AS1', 'score': 6.53}, {'connected_gene': 'NMNAT2', 'score': 6.17}, {'connected_gene': 'RPS3AP8', 'score': 0.23}]
chr1	GH01I183416	183416873	183417800	0.9	[{'connected_gene': 'NMNAT2', 'score': 559.93}, {'connected_gene': 'SMG7', 'score': 10.35}, {'connected_gene': 'RPS3AP8', 'score': 0.1}]
chr1	GH01I183419	183418038	183418625	1.3	[{'connected_gene': 'NMNAT2', 'score': 550.77}, {'connected_gene': 'SMG7', 'score': 10.35}, {'connected_gene': 'RPS3AP8', 'score': 0.1}]
chr1	GH01I183368	183368137	183369240	0.54	[{'connected_gene': 'NMNAT2', 'score': 7.33}, {'connected_gene': 'NCF2', 'score': 5.34}, {'connected_gene': 'RPS3AP8', 'score': 0.15}]
chr1	GH01I183222	183222584	183222881	0.41	[{'connected_gene': 'NMNAT2', 'score': 1.34}, {'connected_gene': 'LAMC2', 'score': 0.28}, {'connected_gene': 'RPS3AP8', 'score': 0.26}]
chr1	GH01I183418	183418647	183418706	0.61	[{'connected_gene': 'NMNAT2', 'score': 550.77}, {'connected_gene': 'LOC105371646', 'score': 0.37}]
chr1	GH01I183366	183366493	183367150	0.2	[{'connected_gene': 'NMNAT2', 'score': 0.23}, {'connected_gene': 'RPS3AP8', 'score': 0.15}]
chr1	GH01I183317	183317898	183319235	1.11	[{'connected_gene': 'NMNAT2', 'score': 7.12}, {'connected_gene': 'RPS3AP8', 'score': 0.23}]
chr1	GH01I183303	183303601	183305001	1.33	[{'connected_gene': 'NMNAT2', 'score': 550.14}, {'connected_gene': 'RPS3AP8', 'score': 0.28}]
chr1	GH01I183308	183308595	183309512	0.38	[{'connected_gene': 'NMNAT2', 'score': 4.27}, {'connected_gene': 'RPS3AP8', 'score': 0.26}]
chr1	GH01I183402	183402936	183405273	0.38	[{'connected_gene': 'NMNAT2', 'score': 6.54}, {'connected_gene': 'RPS3AP8', 'score': 0.12}]
chr1	GH01I183306	183306552	183307461	0.65	[{'connected_gene': 'NMNAT2', 'score': 4.71}, {'connected_gene': 'RPS3AP8', 'score': 0.26}]
chr1	GH01I183348	183348726	183350162	0.72	[{'connected_gene': 'NMNAT2', 'score': 0.2}, {'connected_gene': 'RPS3AP8', 'score': 0.18}]
chr1	GH01I183338	183338605	183339083	0.31	[{'connected_gene': 'NMNAT2', 'score': 4.71}, {'connected_gene': 'RPS3AP8', 'score': 0.19}]
chr1	GH01I183345	183345948	183347268	0.76	[{'connected_gene': 'DHX9', 'score': 12.58}, {'connected_gene': 'NMNAT2', 'score': 7.88}, {'connected_gene': 'NCF2', 'score': 4.97}, {'connected_gene': 'RPS3AP8', 'score': 0.18}]
chr1	GH01I183270	183270168	183274324	1.44	[{'connected_gene': 'DHX9', 'score': 13.24}, {'connected_gene': 'RNU6-41P', 'score': 10.14}, {'connected_gene': 'LAMC2', 'score': 6.52}, {'connected_gene': 'LAMC1', 'score': 2.11}, {'connected_gene': 'RPS3AP8', 'score': 0.44}, {'connected_gene': 'NMNAT2', 'score': 0.11}]
chr1	GH01I183302	183302649	183303062	0.63	[{'connected_gene': 'DHX9', 'score': 14.44}, {'connected_gene': 'RPS3AP8', 'score': 0.28}, {'connected_gene': 'NMNAT2', 'score': 0.13}]
chr1	GH01I183288	183288682	183290043	0.38	[{'connected_gene': 'LAMC1-AS1', 'score': 10.31}, {'connected_gene': 'DHX9', 'score': 9.83}, {'connected_gene': 'LAMC2', 'score': 7.18}, {'connected_gene': 'RPS3AP8', 'score': 0.34}, {'connected_gene': 'NMNAT2', 'score': 0.13}]
chr1	GH01I183277	183277449	183284234	1.52	[{'connected_gene': 'LOC100271717', 'score': 10.6}, {'connected_gene': 'SHCBP1L', 'score': 10.6}, {'connected_gene': 'LAMC2', 'score': 6.78}, {'connected_gene': 'NCF2', 'score': 2.68}, {'connected_gene': 'ARPC5', 'score': 2.02}, {'connected_gene': 'LAMC1', 'score': 1.74}, {'connected_gene': 'RPS3AP8', 'score': 0.39}, {'connected_gene': 'NMNAT2', 'score': 0.12}]
chr1	GH01I183274	183274732	183275770	0.2	[{'connected_gene': 'LOC100271717', 'score': 10.16}, {'connected_gene': 'SHCBP1L', 'score': 10.16}, {'connected_gene': 'RNU6-41P', 'score': 10.14}, {'connected_gene': 'LAMC2', 'score': 5.85}, {'connected_gene': 'RPS3AP8', 'score': 0.44}, {'connected_gene': 'NMNAT2', 'score': 0.11}]
chr1	GH01I183276	183276161	183277316	0.66	[{'connected_gene': 'LOC100271717', 'score': 10.16}, {'connected_gene': 'SHCBP1L', 'score': 10.16}, {'connected_gene': 'RPS3AP8', 'score': 0.39}, {'connected_gene': 'NMNAT2', 'score': 0.11}]
chr1	GH01I183267	183267392	183269350	0.89	[{'connected_gene': 'RPS3AP8', 'score': 550.77}, {'connected_gene': 'LAMC2', 'score': 6.53}, {'connected_gene': 'NMNAT2', 'score': 0.1}]
chr1	GH01I183262	183262960	183263531	0.38	[{'connected_gene': 'RPS3AP8', 'score': 0.77}, {'connected_gene': 'LAMC2', 'score': 0.18}, {'connected_gene': 'NMNAT2', 'score': 0.1}]
chr1	GH01I183316	183316030	183316966	0.2	[{'connected_gene': 'RPS3AP8', 'score': 0.25}, {'connected_gene': 'NMNAT2', 'score': 0.15}]
chr1	GH01I183310	183310801	183311601	0.76	[{'connected_gene': 'RPS3AP8', 'score': 0.26}, {'connected_gene': 'NMNAT2', 'score': 0.14}]