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
ENST00000354822	[[36985601, 36987225], [36988189, 36988575], [36989257, 36989433]]	[[36986482, 36987225], [36988189, 36988575], [36989257, 36989334]]
ENST00000498187	[[36985604, 36987225], [36988189, 36988898]]	[[36986482, 36987225], [36988189, 36988562]]
ENST00000518149	[[36985621, 36987225], [36988189, 36988575], [36989761, 36990354]]	[[36986482, 36987225], [36988189, 36988562]]
ENST00000522719	[[36986421, 36987225], [36988189, 36988575], [36988672, 36988817], [36989257, 36989339]]	[[36986482, 36987225], [36988189, 36988562]]
ENST00000546983	[[36988791, 36988817], [36989257, 36989491], [36989761, 36990154]]	[[36988791, 36988817], [36989257, 36989334]]
NM_003317	[[36985601, 36987225], [36988189, 36988903]]	[[36986482, 36987225], [36988189, 36988562]]
NM_001079668	[[36985601, 36987225], [36988189, 36988575], [36989257, 36989430]]	[[36986482, 36987225], [36988189, 36988575], [36989257, 36989334]]

Promoter

Chrom	Start	End	Description
chr14	36988564	36988601	CAGE_peak_7_at_NKX2-1_5end
chr14	36988882	36988895	CAGE_peak_13_at_NKX2-1_5end
chr14	36989336	36989354	CAGE_peak_5_at_NKX2-1_5end
chr14	36989358	36989378	CAGE_peak_3_at_NKX2-1_5end
chr14	36989379	36989390	CAGE_peak_8_at_NKX2-1_5end
chr14	36989407	36989410	CAGE_peak_15_at_NKX2-1_5end
chr14	36989412	36989423	CAGE_peak_12_at_NKX2-1_5end
chr14	36989427	36989442	CAGE_peak_1_at_NKX2-1_5end
chr14	36989573	36989577	CAGE_peak_18_at_NKX2-1_5end
chr14	36989892	36989908	CAGE_peak_9_at_NKX2-1_5end
chr14	36989913	36989931	CAGE_peak_6_at_NKX2-1_5end
chr14	36989940	36989957	CAGE_peak_2_at_NKX2-1_5end
chr14	36990061	36990072	CAGE_peak_11_at_NKX2-1_5end
chr14	36990386	36990397	CAGE_peak_16_at_NKX2-1_5end
chr14	36990398	36990415	CAGE_peak_10_at_NKX2-1_5end
chr14	36990416	36990438	CAGE_peak_4_at_NKX2-1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I036173	36173120	36173406	0.22	[{'connected_gene': 'NKX2-1', 'score': 2.57}, {'connected_gene': 'MBIP', 'score': 1.83}, {'connected_gene': 'NKX2-8', 'score': 1.52}, {'connected_gene': 'PTCSC3', 'score': 0.77}, {'connected_gene': 'GC14P036113', 'score': 0.22}]
chr14	GH14I036508	36508306	36508449	0.88	[{'connected_gene': 'NKX2-1', 'score': 16.33}, {'connected_gene': 'SFTA3', 'score': 12.78}, {'connected_gene': 'MBIP', 'score': 2.54}, {'connected_gene': 'ENSG00000257520', 'score': 0.39}, {'connected_gene': 'GC14P036424', 'score': 0.18}, {'connected_gene': 'ENSG00000283098', 'score': 0.09}]
chr14	GH14I036137	36137876	36138280	0.36	[{'connected_gene': 'NKX2-1', 'score': 2.03}, {'connected_gene': 'SFTA3', 'score': 1.47}, {'connected_gene': 'GC14P036113', 'score': 0.34}, {'connected_gene': 'PTCSC3', 'score': 0.28}, {'connected_gene': 'LINC00609', 'score': 0.2}]
chr14	GH14I036676	36676201	36676525	0.71	[{'connected_gene': 'NKX2-8', 'score': 10.05}, {'connected_gene': 'RPL29P3', 'score': 10.05}, {'connected_gene': 'NKX2-1-AS1', 'score': 9.97}, {'connected_gene': 'NKX2-1', 'score': 9.97}, {'connected_gene': 'SFTA3', 'score': 9.97}, {'connected_gene': 'LOC105370455', 'score': 0.39}, {'connected_gene': 'PAX9', 'score': 0.37}, {'connected_gene': 'ENSG00000258690', 'score': 0.14}]
chr14	GH14I036673	36673372	36673702	0.2	[{'connected_gene': 'NKX2-8', 'score': 10.05}, {'connected_gene': 'RPL29P3', 'score': 10.05}, {'connected_gene': 'NKX2-1-AS1', 'score': 9.97}, {'connected_gene': 'NKX2-1', 'score': 9.97}, {'connected_gene': 'SFTA3', 'score': 9.97}, {'connected_gene': 'LOC105370455', 'score': 0.39}, {'connected_gene': 'PAX9', 'score': 0.37}, {'connected_gene': 'ENSG00000258690', 'score': 0.13}]
chr14	GH14I036515	36514552	36515145	0.89	[{'connected_gene': 'SFTA3', 'score': 571.4}, {'connected_gene': 'NKX2-1', 'score': 19.49}, {'connected_gene': 'MBIP', 'score': 4.18}, {'connected_gene': 'NKX2-1-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000257520', 'score': 0.77}, {'connected_gene': 'ENSG00000283098', 'score': 0.08}]
chr14	GH14I036279	36279235	36280312	0.46	[{'connected_gene': 'SFTA3', 'score': 9.92}, {'connected_gene': 'NKX2-1', 'score': 9.91}, {'connected_gene': 'NKX2-1-AS1', 'score': 9.91}, {'connected_gene': 'RPL29P3', 'score': 9.06}, {'connected_gene': 'NKX2-8', 'score': 9.06}, {'connected_gene': 'MBIP', 'score': 7.5}, {'connected_gene': 'RN7SKP21', 'score': 0.25}]
chr14	GH14I036281	36281435	36281584	0.6	[{'connected_gene': 'SFTA3', 'score': 9.92}, {'connected_gene': 'NKX2-1-AS1', 'score': 9.91}, {'connected_gene': 'NKX2-1', 'score': 9.91}, {'connected_gene': 'RPL29P3', 'score': 9.06}, {'connected_gene': 'NKX2-8', 'score': 9.06}, {'connected_gene': 'MBIP', 'score': 6.8}, {'connected_gene': 'RN7SKP21', 'score': 0.25}]
chr14	GH14I036521	36521796	36521925	0.72	[{'connected_gene': 'LOC105370453', 'score': 550.77}, {'connected_gene': 'NKX2-1', 'score': 550.77}, {'connected_gene': 'NKX2-1-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000283098', 'score': 0.08}]
chr14	GH14I036174	36174860	36175302	0.24	[{'connected_gene': 'PTCSC3', 'score': 550.77}, {'connected_gene': 'NKX2-1', 'score': 2.74}, {'connected_gene': 'MBIP', 'score': 2.01}, {'connected_gene': 'NKX2-8', 'score': 1.42}, {'connected_gene': 'GC14P036113', 'score': 0.21}]
chr14	GH14I036517	36517115	36521351	1.78	[{'connected_gene': 'NKX2-1-AS1', 'score': 550.77}, {'connected_gene': 'NKX2-1', 'score': 550.77}, {'connected_gene': 'ENSG00000257520', 'score': 550.77}, {'connected_gene': 'PAX9', 'score': 4.77}, {'connected_gene': 'NKX2-8', 'score': 4.49}, {'connected_gene': 'SFTA3', 'score': 0.44}, {'connected_gene': 'ENSG00000283098', 'score': 0.08}]
chr14	GH14I036149	36149098	36149482	0.34	[{'connected_gene': 'ENSG00000257826', 'score': 5.98}, {'connected_gene': 'NKX2-1', 'score': 3.57}, {'connected_gene': 'SFTA3', 'score': 2.42}, {'connected_gene': 'PTCSC3', 'score': 0.31}, {'connected_gene': 'GC14P036113', 'score': 0.28}, {'connected_gene': 'LINC00609', 'score': 0.18}]