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
ENST00000520791	[[99956630, 99957051], [99958258, 99958530]]	None
ENST00000523368	[[99956669, 99957051], [99961066, 99961836], [99962883, 99963250]]	[[99961180, 99961836], [99962883, 99963094]]
ENST00000297565	[[99956669, 99957051], [99961066, 99961836], [99962883, 99962983], [99963746, 99964332]]	[[99961180, 99961836], [99962883, 99962983], [99963746, 99963929]]
ENST00000520722	[[99956673, 99957051], [99961474, 99961535]]	None
ENST00000521044	[[99956683, 99957051], [99961255, 99961549]]	None
ENST00000435298	[[99956685, 99957051], [99961066, 99961836], [99962883, 99962983], [99963828, 99964328]]	[[99961180, 99961836], [99962883, 99962983], [99963828, 99963903]]
ENST00000522510	[[99956886, 99957051], [99960400, 99960649], [99961066, 99961836], [99962883, 99962983], [99963746, 99963990]]	[[99961180, 99961836], [99962883, 99962983], [99963746, 99963929]]
ENST00000457907	[[99956886, 99957051], [99960400, 99960649], [99961066, 99961836], [99962883, 99962983], [99963746, 99963990]]	[[99960400, 99960649], [99961066, 99961836], [99962883, 99962983], [99963746, 99963929]]
ENST00000520951	[[99960449, 99960536], [99961066, 99961832]]	[[99960491, 99960536], [99961066, 99961832]]
ENST00000518199	[[99960619, 99960914], [99961066, 99961819]]	[[99961180, 99961819]]
NM_053001	[[99956630, 99957051], [99961066, 99961836], [99962883, 99962983], [99963828, 99964332]]	[[99961180, 99961836], [99962883, 99962983], [99963828, 99963903]]
NM_001142462	[[99956630, 99957051], [99961066, 99961836], [99962883, 99962983], [99963746, 99964332]]	[[99961180, 99961836], [99962883, 99962983], [99963746, 99963929]]
NM_001286841	[[99956630, 99957051], [99960400, 99960649], [99961066, 99961836], [99962883, 99962983], [99963746, 99964332]]	[[99960400, 99960649], [99961066, 99961836], [99962883, 99962983], [99963746, 99963929]]

Promoter

Chrom	Start	End	Description
chr8	99956662	99956684	CAGE_peak_1_at_OSR2_5end
chr8	99956759	99956767	CAGE_peak_5_at_OSR2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I099018	99018953	99020184	0.43	[{'connected_gene': 'STK3', 'score': 10.7}, {'connected_gene': 'OSR2', 'score': 10.7}, {'connected_gene': 'POP1', 'score': 10.02}, {'connected_gene': 'VPS13B', 'score': 5.09}, {'connected_gene': 'ENSG00000253562', 'score': 0.19}]
chr8	GH08I098973	98973184	98974925	0.79	[{'connected_gene': 'STK3', 'score': 12.34}, {'connected_gene': 'OSR2', 'score': 12.33}, {'connected_gene': 'VPS13B', 'score': 11.59}, {'connected_gene': 'LOC105375666', 'score': 11.59}, {'connected_gene': 'ENSG00000229625', 'score': 0.39}, {'connected_gene': 'GC08P098985', 'score': 0.39}]
chr8	GH08I098983	98983413	98983562	0.74	[{'connected_gene': 'STK3', 'score': 12.29}, {'connected_gene': 'OSR2', 'score': 12.28}, {'connected_gene': 'VPS13B', 'score': 11.44}, {'connected_gene': 'LOC105375666', 'score': 11.44}, {'connected_gene': 'GC08P098985', 'score': 0.77}, {'connected_gene': 'ENSG00000229625', 'score': 0.34}]
chr8	GH08I098163	98163431	98169006	1.24	[{'connected_gene': 'VPS13B', 'score': 4.41}, {'connected_gene': 'OSR2', 'score': 4.12}, {'connected_gene': 'GC08P098161', 'score': 0.44}, {'connected_gene': 'LOC105375660', 'score': 0.39}, {'connected_gene': 'GC08P097993', 'score': 0.09}]
chr8	GH08I098926	98926765	98927913	0.46	[{'connected_gene': 'VPS13B', 'score': 4.72}, {'connected_gene': 'RN7SKP85', 'score': 0.44}, {'connected_gene': 'OSR2', 'score': 0.39}, {'connected_gene': 'STK3', 'score': 0.37}]
chr8	GH08I098990	98990453	98990602	0.2	[{'connected_gene': 'VPS13B', 'score': 11.95}, {'connected_gene': 'LOC105375666', 'score': 11.95}, {'connected_gene': 'STK3', 'score': 11.33}, {'connected_gene': 'OSR2', 'score': 11.31}, {'connected_gene': 'ENSG00000253562', 'score': 9.96}, {'connected_gene': 'GC08P098985', 'score': 0.77}, {'connected_gene': 'ENSG00000253180', 'score': 0.39}]
chr8	GH08I098988	98988233	98988362	0.31	[{'connected_gene': 'VPS13B', 'score': 11.95}, {'connected_gene': 'LOC105375666', 'score': 11.95}, {'connected_gene': 'STK3', 'score': 11.45}, {'connected_gene': 'OSR2', 'score': 11.44}, {'connected_gene': 'ENSG00000253562', 'score': 9.89}, {'connected_gene': 'GC08P098985', 'score': 0.77}, {'connected_gene': 'ENSG00000253180', 'score': 0.37}]
chr8	GH08I099011	99011870	99014787	2.1	[{'connected_gene': 'VPS13B', 'score': 633.66}, {'connected_gene': 'LOC105375666', 'score': 550.77}, {'connected_gene': 'ENSG00000245970', 'score': 60.36}, {'connected_gene': 'RPL30', 'score': 30.86}, {'connected_gene': 'OSR2', 'score': 21.56}, {'connected_gene': 'ENSG00000271930', 'score': 12.52}, {'connected_gene': 'POP1', 'score': 9.78}, {'connected_gene': 'ENSG00000253562', 'score': 0.18}]
chr8	GH08I098939	98939014	98951958	2.74	[{'connected_gene': 'OSR2', 'score': 554.9}, {'connected_gene': 'STK3', 'score': 552.79}, {'connected_gene': 'ENSG00000271930', 'score': 550.77}, {'connected_gene': 'VPS13B', 'score': 14.09}, {'connected_gene': 'ENSG00000245970', 'score': 11.01}, {'connected_gene': 'POP1', 'score': 10.01}, {'connected_gene': 'ENSG00000229625', 'score': 0.37}]
chr8	GH08I098934	98934071	98934326	0.2	[{'connected_gene': 'OSR2', 'score': 0.77}, {'connected_gene': 'STK3', 'score': 0.44}, {'connected_gene': 'RN7SKP85', 'score': 0.39}]
chr8	GH08I098937	98937642	98937791	0.58	[{'connected_gene': 'OSR2', 'score': 550.77}, {'connected_gene': 'STK3', 'score': 0.44}, {'connected_gene': 'RN7SKP85', 'score': 0.37}]
chr8	GH08I098997	98997973	98998102	0.63	[{'connected_gene': 'OSR2', 'score': 10.92}, {'connected_gene': 'STK3', 'score': 10.92}, {'connected_gene': 'ENSG00000253562', 'score': 10.03}, {'connected_gene': 'ENSG00000253180', 'score': 0.44}, {'connected_gene': 'GC08P098985', 'score': 0.39}, {'connected_gene': 'LOC105375666', 'score': 0.37}]
chr8	GH08I098929	98929820	98931587	0.9	[{'connected_gene': 'OSR2', 'score': 0.44}, {'connected_gene': 'RN7SKP85', 'score': 0.44}, {'connected_gene': 'STK3', 'score': 0.39}]
chr8	GH08I098925	98925796	98926562	0.62	[{'connected_gene': 'RN7SKP85', 'score': 0.77}, {'connected_gene': 'OSR2', 'score': 0.39}, {'connected_gene': 'STK3', 'score': 0.37}]
chr8	GH08I098986	98986855	98987167	0.38	[{'connected_gene': 'GC08P098985', 'score': 550.77}, {'connected_gene': 'STK3', 'score': 11.47}, {'connected_gene': 'OSR2', 'score': 11.45}, {'connected_gene': 'VPS13B', 'score': 11.3}, {'connected_gene': 'LOC105375666', 'score': 11.3}, {'connected_gene': 'ENSG00000253180', 'score': 0.37}]
chr8	GH08I099002	99002401	99002600	0.46	[{'connected_gene': 'ENSG00000253180', 'score': 550.77}, {'connected_gene': 'STK3', 'score': 11.12}, {'connected_gene': 'OSR2', 'score': 11.11}, {'connected_gene': 'LOC105375666', 'score': 0.39}, {'connected_gene': 'GC08P098985', 'score': 0.37}]