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
ENST00000380725	[[2904442, 2905145], [2905228, 2905364], [2906431, 2906696], [2906863, 2906979]]	[[2905140, 2905145], [2905228, 2905364], [2906431, 2906686]]
ENST00000414822	[[2904442, 2905145], [2905228, 2905364], [2905899, 2907111]]	[[2905233, 2905364], [2905899, 2906719]]
ENST00000440480	[[2904447, 2905145], [2905228, 2905364], [2905899, 2906696], [2906863, 2907043]]	[[2905233, 2905364], [2905899, 2906686]]
ENST00000313407	[[2904460, 2905140], [2905228, 2905364], [2905899, 2906696], [2906863, 2906995]]	[[2905233, 2905364], [2905899, 2906686]]
ENST00000430149	[[2904808, 2905140], [2905228, 2905364], [2905899, 2907001]]	[[2905233, 2905364], [2905899, 2906719]]
ENST00000471157	[[2904904, 2905145], [2905228, 2905931]]	None
NM_000076	[[2904447, 2905145], [2905228, 2905364], [2905899, 2906995]]	[[2905233, 2905364], [2905899, 2906719]]
NM_001122630	[[2904447, 2905145], [2905228, 2905364], [2905899, 2906696], [2906863, 2906995]]	[[2905233, 2905364], [2905899, 2906686]]
NM_001122631	[[2904447, 2905140], [2905228, 2905364], [2905899, 2906696], [2906863, 2906995]]	[[2905233, 2905364], [2905899, 2906686]]

Promoter

Chrom	Start	End	Description
chr11	2905495	2905540	CAGE_peak_2_at_CDKN1C_5end
chr11	2906995	2907013	CAGE_peak_1_at_CDKN1C_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I002897	2897803	2900400	2.1	[{'connected_gene': 'SLC22A18', 'score': 565.19}, {'connected_gene': 'KCNQ1', 'score': 5.35}, {'connected_gene': 'TRPC2', 'score': 4.7}, {'connected_gene': 'SLC22A18AS', 'score': 0.77}, {'connected_gene': 'CDKN1C', 'score': 0.39}]
chr11	GH11I002889	2889110	2893537	1.39	[{'connected_gene': 'NUP98', 'score': 15.66}, {'connected_gene': 'TSSC4', 'score': 11.32}, {'connected_gene': 'NAP1L4', 'score': 4.77}, {'connected_gene': 'CDKN1C', 'score': 0.44}, {'connected_gene': 'SLC22A18', 'score': 0.44}, {'connected_gene': 'SLC22A18AS', 'score': 0.39}]
chr11	GH11I002777	2777041	2782316	1.61	[{'connected_gene': 'KCNQ1-AS1', 'score': 11.85}, {'connected_gene': 'KCNQ1DN', 'score': 11.83}, {'connected_gene': 'KCNQ1', 'score': 3.59}, {'connected_gene': 'CDKN1C', 'score': 1.81}, {'connected_gene': 'COX6CP18', 'score': 0.44}]
chr11	GH11I002824	2824316	2827742	1.59	[{'connected_gene': 'KCNQ1-AS1', 'score': 12.23}, {'connected_gene': 'KCNQ1DN', 'score': 12.22}, {'connected_gene': 'CDKN1C', 'score': 1.96}, {'connected_gene': 'COX6CP18', 'score': 0.23}, {'connected_gene': 'KCNQ1', 'score': 0.05}]
chr11	GH11I002521	2521139	2523202	0.2	[{'connected_gene': 'TRPM5', 'score': 17.08}, {'connected_gene': 'CDKN1C', 'score': 12.31}, {'connected_gene': 'SLC22A18AS', 'score': 12.31}, {'connected_gene': 'SLC22A18', 'score': 11.35}, {'connected_gene': 'PHLDA2', 'score': 11.34}, {'connected_gene': 'KCNQ1-AS1', 'score': 10.51}, {'connected_gene': 'KCNQ1DN', 'score': 10.51}, {'connected_gene': 'ENSG00000199550', 'score': 10.23}, {'connected_gene': 'CD81', 'score': 10.23}, {'connected_gene': 'KCNQ1', 'score': 4.74}, {'connected_gene': 'GC11P002517', 'score': 0.44}, {'connected_gene': 'PIR42060', 'score': 0.39}]
chr11	GH11I002768	2768784	2769889	0.87	[{'connected_gene': 'KCNQ1OT1', 'score': 11.26}, {'connected_gene': 'CDKN1C', 'score': 4.66}, {'connected_gene': 'COX6CP18', 'score': 0.77}, {'connected_gene': 'KCNQ1', 'score': 0.05}]
chr11	GH11I002881	2881432	2887180	1.95	[{'connected_gene': 'CDKN1C', 'score': 550.77}, {'connected_gene': 'PHLDA2', 'score': 11.02}, {'connected_gene': 'TRPM5', 'score': 10.99}, {'connected_gene': 'KCNQ1OT1', 'score': 10.97}, {'connected_gene': 'RNU1-91P', 'score': 9.27}, {'connected_gene': 'SLC22A18', 'score': 6.11}, {'connected_gene': 'ENSG00000274740', 'score': 0.39}]
chr11	GH11I002888	2887591	2887800	0.51	[{'connected_gene': 'CDKN1C', 'score': 550.77}, {'connected_gene': 'SLC22A18', 'score': 0.39}, {'connected_gene': 'SLC22A18AS', 'score': 0.37}]
chr11	GH11I002887	2887411	2887560	0.2	[{'connected_gene': 'CDKN1C', 'score': 550.77}, {'connected_gene': 'SLC22A18', 'score': 0.39}, {'connected_gene': 'SLC22A18AS', 'score': 0.37}]
chr11	GH11I002890	2888201	2888801	1.06	[{'connected_gene': 'CDKN1C', 'score': 0.77}, {'connected_gene': 'SLC22A18', 'score': 0.39}, {'connected_gene': 'SLC22A18AS', 'score': 0.37}]
chr11	GH11I002537	2537725	2540618	0.4	[{'connected_gene': 'GC11P002540', 'score': 550.77}, {'connected_gene': 'SLC22A18AS', 'score': 11.84}, {'connected_gene': 'CDKN1C', 'score': 11.84}, {'connected_gene': 'SLC22A18', 'score': 11.42}, {'connected_gene': 'PHLDA2', 'score': 10.46}, {'connected_gene': 'NAP1L4', 'score': 9.4}, {'connected_gene': 'SNORA54', 'score': 9.39}, {'connected_gene': 'PIR42060', 'score': 0.77}, {'connected_gene': 'KCNQ1', 'score': 0.16}]