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
ENST00000299824	[[37434347, 37434435], [37464467, 37464818], [37518237, 37518308], [37524207, 37524353], [37529223, 37529327], [37531310, 37531435], [37534611, 37534737], [37535621, 37535697], [37536448, 37536578], [37536670, 37536836], [37546799, 37551667]]	[[37464568, 37464818], [37518237, 37518308], [37524207, 37524353], [37529223, 37529327], [37531310, 37531435], [37534611, 37534737], [37535621, 37535697], [37536448, 37536578], [37536670, 37536836], [37546799, 37547309]]
ENST00000373331	[[37434366, 37434435], [37464467, 37464818], [37518237, 37518308], [37524207, 37524353], [37529223, 37529327], [37531310, 37531435], [37535621, 37535697], [37536448, 37536578], [37536670, 37536836], [37546799, 37551667]]	[[37464568, 37464818], [37518237, 37518308], [37524207, 37524353], [37529223, 37529327], [37531310, 37531435], [37535621, 37535697], [37536448, 37536578], [37536670, 37536836], [37546799, 37547309]]
ENST00000468265	[[37464758, 37464818], [37466755, 37466841], [37518237, 37518308], [37524207, 37524289]]	None
ENST00000463749	[[37467090, 37467153], [37518237, 37518308], [37524207, 37524341]]	None
NM_001172735	[[37434335, 37434435], [37464467, 37464818], [37518237, 37518308], [37524207, 37524353], [37529223, 37529327], [37531310, 37531435], [37535621, 37535697], [37536448, 37536578], [37536670, 37536836], [37546799, 37551667]]	[[37464568, 37464818], [37518237, 37518308], [37524207, 37524353], [37529223, 37529327], [37531310, 37531435], [37535621, 37535697], [37536448, 37536578], [37536670, 37536836], [37546799, 37547309]]
NM_015568	[[37434335, 37434435], [37464467, 37464818], [37518237, 37518308], [37524207, 37524353], [37529223, 37529327], [37531310, 37531435], [37534611, 37534737], [37535621, 37535697], [37536448, 37536578], [37536670, 37536836], [37546799, 37551667]]	[[37464568, 37464818], [37518237, 37518308], [37524207, 37524353], [37529223, 37529327], [37531310, 37531435], [37534611, 37534737], [37535621, 37535697], [37536448, 37536578], [37536670, 37536836], [37546799, 37547309]]

Promoter

Chrom	Start	End	Description
chr20	37433856	37433879	CAGE_peak_2_at_PPP1R16B_5end
chr20	37434329	37434371	CAGE_peak_1_at_PPP1R16B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I038897	38897195	38902947	0.46	[{'connected_gene': 'FAM83D', 'score': 27.51}, {'connected_gene': 'DHX35', 'score': 9.48}, {'connected_gene': 'SNORA71B', 'score': 9.24}, {'connected_gene': 'SNORA71A', 'score': 9.24}, {'connected_gene': 'GC20M038907', 'score': 0.39}, {'connected_gene': 'RN7SL116P', 'score': 0.31}, {'connected_gene': 'PPP1R16B', 'score': 0.16}]
chr20	GH20I038887	38887556	38891321	0.85	[{'connected_gene': 'FAM83D', 'score': 16.92}, {'connected_gene': 'DHX35', 'score': 5.42}, {'connected_gene': 'RN7SL116P', 'score': 0.37}, {'connected_gene': 'GC20M038907', 'score': 0.31}, {'connected_gene': 'PPP1R16B', 'score': 0.18}]
chr20	GH20I038904	38904638	38907593	0.49	[{'connected_gene': 'FAM83D', 'score': 16.97}, {'connected_gene': 'DHX35', 'score': 16.31}, {'connected_gene': 'GC20M038907', 'score': 0.44}, {'connected_gene': 'RN7SL116P', 'score': 0.29}, {'connected_gene': 'PPP1R16B', 'score': 0.15}]
chr20	GH20I038895	38895586	38897147	0.46	[{'connected_gene': 'FAM83D', 'score': 20.62}, {'connected_gene': 'SNHG17', 'score': 18.62}, {'connected_gene': 'SNORA71A', 'score': 15.84}, {'connected_gene': 'SNORA71C', 'score': 15.6}, {'connected_gene': 'RALGAPB', 'score': 13.9}, {'connected_gene': 'RPS3P2', 'score': 12.14}, {'connected_gene': 'RN7SKP173', 'score': 11.62}, {'connected_gene': 'TTI1', 'score': 11.3}, {'connected_gene': 'ACTR5', 'score': 10.56}, {'connected_gene': 'DHX35', 'score': 9.13}, {'connected_gene': 'GC20M038907', 'score': 0.37}, {'connected_gene': 'RN7SL116P', 'score': 0.34}, {'connected_gene': 'PPP1R16B', 'score': 0.16}]
chr20	GH20I038877	38877406	38879064	0.73	[{'connected_gene': 'FAM83D', 'score': 18.76}, {'connected_gene': 'ARHGAP40', 'score': 5.11}, {'connected_gene': 'RN7SL116P', 'score': 0.44}, {'connected_gene': 'GC20M038907', 'score': 0.28}, {'connected_gene': 'PPP1R16B', 'score': 0.19}]
chr20	GH20I038888	38887178	38887409	0.55	[{'connected_gene': 'FAM83D', 'score': 11.56}, {'connected_gene': 'PPP1R16B', 'score': 3.75}, {'connected_gene': 'ACTR5', 'score': 1.96}, {'connected_gene': 'RN7SL116P', 'score': 0.39}, {'connected_gene': 'GC20M038907', 'score': 0.31}]
chr20	GH20I038880	38880871	38884210	0.93	[{'connected_gene': 'FAM83D', 'score': 16.9}, {'connected_gene': 'RN7SL116P', 'score': 0.44}, {'connected_gene': 'GC20M038907', 'score': 0.29}, {'connected_gene': 'PPP1R16B', 'score': 0.18}]
chr20	GH20I038886	38886338	38886801	0.2	[{'connected_gene': 'FAM83D', 'score': 16.77}, {'connected_gene': 'RN7SL116P', 'score': 0.39}, {'connected_gene': 'GC20M038907', 'score': 0.31}, {'connected_gene': 'PPP1R16B', 'score': 0.18}]
chr20	GH20I038879	38879075	38880364	0.69	[{'connected_gene': 'FAM83D', 'score': 11.63}, {'connected_gene': 'RN7SL116P', 'score': 0.44}, {'connected_gene': 'GC20M038907', 'score': 0.28}, {'connected_gene': 'PPP1R16B', 'score': 0.19}]
chr20	GH20I038891	38891683	38894667	1.3	[{'connected_gene': 'FAM83D', 'score': 17.82}, {'connected_gene': 'RN7SL116P', 'score': 0.34}, {'connected_gene': 'GC20M038907', 'score': 0.34}, {'connected_gene': 'PPP1R16B', 'score': 0.17}]
chr20	GH20I038825	38825658	38827067	1.19	[{'connected_gene': 'ACTR5', 'score': 19.49}, {'connected_gene': 'FAM83D', 'score': 12.57}, {'connected_gene': 'PPP1R16B', 'score': 0.34}, {'connected_gene': 'RN7SL116P', 'score': 0.25}]
chr20	GH20I038853	38853694	38855267	0.93	[{'connected_gene': 'ACTR5', 'score': 20.25}, {'connected_gene': 'RALGAPB', 'score': 9.94}, {'connected_gene': 'RN7SKP173', 'score': 9.93}, {'connected_gene': 'SNHG17', 'score': 4.16}, {'connected_gene': 'RN7SL116P', 'score': 0.37}, {'connected_gene': 'PPP1R16B', 'score': 0.25}]
chr20	GH20I038789	38789118	38790143	0.56	[{'connected_gene': 'ACTR5', 'score': 34.83}, {'connected_gene': 'ARHGAP40', 'score': 6.45}, {'connected_gene': 'GC20P038783', 'score': 0.44}, {'connected_gene': 'PPP1R16B', 'score': 0.37}]
chr20	GH20I038839	38839803	38846003	1.52	[{'connected_gene': 'ACTR5', 'score': 20.64}, {'connected_gene': 'PPP1R16B', 'score': 10.25}, {'connected_gene': 'RALGAPB', 'score': 2.04}, {'connected_gene': 'DHX35', 'score': 1.71}, {'connected_gene': 'RN7SL116P', 'score': 0.31}]
chr20	GH20I038834	38834745	38837435	0.59	[{'connected_gene': 'ACTR5', 'score': 18.28}, {'connected_gene': 'PPP1R16B', 'score': 0.29}, {'connected_gene': 'RN7SL116P', 'score': 0.28}]
chr20	GH20I038815	38815238	38817476	0.31	[{'connected_gene': 'ACTR5', 'score': 12.5}, {'connected_gene': 'PPP1R16B', 'score': 0.39}, {'connected_gene': 'RN7SL116P', 'score': 0.22}]
chr20	GH20I038837	38837682	38839086	0.38	[{'connected_gene': 'ACTR5', 'score': 19.31}, {'connected_gene': 'PPP1R16B', 'score': 0.29}, {'connected_gene': 'RN7SL116P', 'score': 0.29}]
chr20	GH20I038830	38830443	38832711	0.65	[{'connected_gene': 'ACTR5', 'score': 17.47}, {'connected_gene': 'PPP1R16B', 'score': 0.31}, {'connected_gene': 'RN7SL116P', 'score': 0.26}]
chr20	GH20I038827	38827365	38830275	1.03	[{'connected_gene': 'ACTR5', 'score': 19.48}, {'connected_gene': 'PPP1R16B', 'score': 0.34}, {'connected_gene': 'RN7SL116P', 'score': 0.26}]
chr20	GH20I038823	38823931	38824853	0.2	[{'connected_gene': 'ACTR5', 'score': 17.14}, {'connected_gene': 'PPP1R16B', 'score': 0.37}, {'connected_gene': 'RN7SL116P', 'score': 0.25}]
chr20	GH20I038790	38790538	38790707	0.64	[{'connected_gene': 'ACTR5', 'score': 35.09}, {'connected_gene': 'GC20P038783', 'score': 0.44}, {'connected_gene': 'PPP1R16B', 'score': 0.37}]
chr20	GH20I038811	38811401	38813202	0.94	[{'connected_gene': 'ACTR5', 'score': 23.09}, {'connected_gene': 'SNHG11', 'score': 13.71}, {'connected_gene': 'SNHG17', 'score': 13.63}, {'connected_gene': 'SNORA71C', 'score': 10.02}, {'connected_gene': 'ARHGAP40', 'score': 6.46}, {'connected_gene': 'PPP1R16B', 'score': 0.44}, {'connected_gene': 'RN7SL116P', 'score': 0.21}]
chr20	GH20I038848	38848965	38850770	0.43	[{'connected_gene': 'ACTR5', 'score': 12.57}, {'connected_gene': 'RN7SL116P', 'score': 0.34}, {'connected_gene': 'PPP1R16B', 'score': 0.26}]
chr20	GH20I038855	38855400	38855800	0.58	[{'connected_gene': 'ACTR5', 'score': 10.66}, {'connected_gene': 'RN7SL116P', 'score': 0.37}, {'connected_gene': 'PPP1R16B', 'score': 0.25}]
chr20	GH20I039049	39049378	39050827	1.45	[{'connected_gene': 'DHX35', 'score': 6.16}, {'connected_gene': 'SLC32A1', 'score': 3.18}, {'connected_gene': 'PPP1R16B', 'score': 2.16}, {'connected_gene': 'PIR38411', 'score': 0.34}, {'connected_gene': 'NPM1P19', 'score': 0.19}]
chr20	GH20I038791	38790258	38790407	0.59	[{'connected_gene': 'ARHGAP40', 'score': 6.45}, {'connected_gene': 'GC20P038783', 'score': 0.44}, {'connected_gene': 'PPP1R16B', 'score': 0.37}]
chr20	GH20I038860	38860387	38865200	1.63	[{'connected_gene': 'PPP1R16B', 'score': 14.63}, {'connected_gene': 'ACTR5', 'score': 6.56}, {'connected_gene': 'DHX35', 'score': 2.3}, {'connected_gene': 'RALGAPB', 'score': 2.28}, {'connected_gene': 'RN7SL116P', 'score': 0.44}]
chr20	GH20I038803	38803443	38809744	2.65	[{'connected_gene': 'PPP1R16B', 'score': 573.96}, {'connected_gene': 'ACTR5', 'score': 21.72}, {'connected_gene': 'ARHGAP40', 'score': 6.14}, {'connected_gene': 'RALGAPB', 'score': 3.17}, {'connected_gene': 'DHX35', 'score': 2.89}, {'connected_gene': 'RN7SL116P', 'score': 0.2}]
chr20	GH20I038856	38856246	38856557	0.61	[{'connected_gene': 'PPP1R16B', 'score': 4.2}, {'connected_gene': 'ACTR5', 'score': 1.9}, {'connected_gene': 'SLC32A1', 'score': 1.35}, {'connected_gene': 'RN7SL116P', 'score': 0.37}]
chr20	GH20I038885	38884236	38884488	0.88	[{'connected_gene': 'PPP1R16B', 'score': 5.06}, {'connected_gene': 'ACTR5', 'score': 1.7}, {'connected_gene': 'RN7SL116P', 'score': 0.39}, {'connected_gene': 'GC20M038907', 'score': 0.29}]
chr20	GH20I038819	38819504	38820713	0.31	[{'connected_gene': 'PPP1R16B', 'score': 0.39}, {'connected_gene': 'RN7SL116P', 'score': 0.23}]
chr20	GH20I038833	38833004	38834667	0.63	[{'connected_gene': 'PPP1R16B', 'score': 0.31}, {'connected_gene': 'RN7SL116P', 'score': 0.28}]
chr20	GH20I038822	38822474	38823695	0.38	[{'connected_gene': 'PPP1R16B', 'score': 0.37}, {'connected_gene': 'RN7SL116P', 'score': 0.25}]
chr20	GH20I038818	38818618	38818747	0.4	[{'connected_gene': 'PPP1R16B', 'score': 0.39}, {'connected_gene': 'RN7SL116P', 'score': 0.23}]
chr20	GH20I038798	38798630	38799962	0.86	[{'connected_gene': 'PPP1R16B', 'score': 0.44}, {'connected_gene': 'GC20P038783', 'score': 0.37}]
chr20	GH20I038870	38870237	38877393	1.62	[{'connected_gene': 'RN7SL116P', 'score': 550.77}, {'connected_gene': 'PPP1R16B', 'score': 15.12}, {'connected_gene': 'FAM83D', 'score': 10.94}, {'connected_gene': 'ACTR5', 'score': 6.27}, {'connected_gene': 'SLC32A1', 'score': 2.79}, {'connected_gene': 'DHX35', 'score': 2.26}, {'connected_gene': 'RALGAPB', 'score': 2.09}, {'connected_gene': 'GC20M038907', 'score': 0.26}]
chr20	GH20I038884	38884972	38885759	0.2	[{'connected_gene': 'RN7SL116P', 'score': 0.39}, {'connected_gene': 'GC20M038907', 'score': 0.31}, {'connected_gene': 'PPP1R16B', 'score': 0.18}]
chr20	GH20I038866	38866098	38867743	0.49	[{'connected_gene': 'RN7SL116P', 'score': 0.44}, {'connected_gene': 'PPP1R16B', 'score': 0.21}]
chr20	GH20I038857	38857659	38859842	1.28	[{'connected_gene': 'RN7SL116P', 'score': 0.39}, {'connected_gene': 'PPP1R16B', 'score': 0.23}]