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
ENST00000554962	[[36742930, 36743191], [36744667, 36744924], [36747828, 36747947], [36748612, 36748704], [36748858, 36749006], [36764082, 36764193], [36765931, 36766031], [36767757, 36767862], [36767942, 36768004], [36776015, 36776230], [36801484, 36801518], [36822742, 36822819], [36827939, 36827993], [36828181, 36828280], [36857728, 36857839], [36871773, 36871979]]	[[36743170, 36743191], [36744667, 36744924], [36747828, 36747947], [36748612, 36748704], [36748858, 36749006], [36764082, 36764193], [36765931, 36766031], [36767757, 36767862], [36767942, 36768004], [36776015, 36776230], [36801484, 36801518], [36822742, 36822819], [36827939, 36827993], [36828181, 36828280], [36857728, 36857743]]
ENST00000379881	[[36742344, 36743191], [36744667, 36744924], [36747828, 36747947], [36748612, 36748704], [36748858, 36749006], [36764082, 36764193], [36765931, 36766031], [36767757, 36767862], [36767942, 36768004], [36776015, 36776230], [36788615, 36788752]]	[[36743170, 36743191], [36744667, 36744924], [36747828, 36747947], [36748612, 36748704], [36748858, 36749006], [36764082, 36764193], [36765931, 36766031], [36767757, 36767862], [36767942, 36768004], [36776015, 36776230], [36788615, 36788663]]
ENST00000317764	[[36756128, 36757334], [36764082, 36764193], [36765931, 36766031], [36767757, 36767862], [36767942, 36768004], [36776015, 36776230], [36788615, 36788725]]	[[36757297, 36757334], [36764082, 36764193], [36765931, 36766031], [36767757, 36767862], [36767942, 36768004], [36776015, 36776230], [36788615, 36788663]]
NM_017826	[[36742344, 36743191], [36744667, 36744924], [36747828, 36747947], [36748612, 36748704], [36748858, 36749006], [36764082, 36764193], [36765931, 36766031], [36767757, 36767862], [36767942, 36768004], [36776015, 36776230], [36788615, 36788752]]	[[36743170, 36743191], [36744667, 36744924], [36747828, 36747947], [36748612, 36748704], [36748858, 36749006], [36764082, 36764193], [36765931, 36766031], [36767757, 36767862], [36767942, 36768004], [36776015, 36776230], [36788615, 36788663]]
NM_001282147	[[36756128, 36757334], [36764082, 36764193], [36765931, 36766031], [36767757, 36767862], [36767942, 36768004], [36776015, 36776230], [36788615, 36788752]]	[[36757297, 36757334], [36764082, 36764193], [36765931, 36766031], [36767757, 36767862], [36767942, 36768004], [36776015, 36776230], [36788615, 36788663]]

Promoter

Chrom	Start	End	Description
chr13	36788658	36788703	CAGE_peak_2_at_CCDC169-SOHLH2_5end,CAGE_peak_2_at_SOHLH2_5end
chr13	36788718	36788729	CAGE_peak_3_at_CCDC169-SOHLH2_5end,CAGE_peak_3_at_SOHLH2_5end
chr13	36871902	36872023	CAGE_peak_1_at_CCDC169-SOHLH2_5end,CAGE_peak_1_at_CCDC169_5end,CAGE_peak_1_at_SOHLH2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I036154	36154134	36155899	1.06	[{'connected_gene': 'DCLK1', 'score': 16.29}, {'connected_gene': 'CCDC169', 'score': 11.16}, {'connected_gene': 'SOHLH2', 'score': 10.44}, {'connected_gene': 'SPART', 'score': 3.07}]
chr13	GH13I036156	36156636	36159592	0.79	[{'connected_gene': 'DCLK1', 'score': 12.03}, {'connected_gene': 'CCDC169', 'score': 11.31}, {'connected_gene': 'SOHLH2', 'score': 10.74}, {'connected_gene': 'RNU6-71P', 'score': 10.16}]
chr13	GH13I036151	36151193	36153054	0.2	[{'connected_gene': 'DCLK1', 'score': 12.54}, {'connected_gene': 'CCDC169', 'score': 11.85}, {'connected_gene': 'SOHLH2', 'score': 11.48}]
chr13	GH13I036067	36067583	36072618	0.43	[{'connected_gene': 'DCLK1', 'score': 11.24}, {'connected_gene': 'SOHLH2', 'score': 7.39}, {'connected_gene': 'CCDC169', 'score': 7.09}, {'connected_gene': 'RFXAP', 'score': 4.78}, {'connected_gene': 'NMTRQ-TTG10-1', 'score': 0.77}]
chr13	GH13I036130	36130319	36132982	1.97	[{'connected_gene': 'DCLK1', 'score': 550.77}, {'connected_gene': 'SOHLH2', 'score': 14.11}, {'connected_gene': 'EXOSC8', 'score': 13.91}, {'connected_gene': 'CCDC169', 'score': 12.37}, {'connected_gene': 'RFXAP', 'score': 11.11}, {'connected_gene': 'SUPT20H', 'score': 10.87}, {'connected_gene': 'NMTRQ-TTG10-1', 'score': 0.2}]
chr13	GH13I036056	36056751	36057150	0.58	[{'connected_gene': 'DCLK1', 'score': 5.49}, {'connected_gene': 'SOHLH2', 'score': 4.78}, {'connected_gene': 'GC13P036065', 'score': 0.44}, {'connected_gene': 'LOC105370163', 'score': 0.08}]
chr13	GH13I036163	36163144	36164780	1.01	[{'connected_gene': 'DCLK1', 'score': 12.05}, {'connected_gene': 'RNU6-71P', 'score': 10.81}, {'connected_gene': 'SOHLH2', 'score': 5.48}]
chr13	GH13I036362	36362930	36364319	0.49	[{'connected_gene': 'CCDC169', 'score': 11.45}, {'connected_gene': 'RFXAP', 'score': 10.19}, {'connected_gene': 'SPART-AS1', 'score': 6.86}, {'connected_gene': 'SOHLH2', 'score': 6.51}, {'connected_gene': 'SPART', 'score': 0.44}]
chr13	GH13I036190	36190756	36193968	0.49	[{'connected_gene': 'CCDC169', 'score': 5.37}, {'connected_gene': 'SOHLH2', 'score': 5.32}, {'connected_gene': 'DCLK1', 'score': 0.21}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.14}]
chr13	GH13I036352	36352741	36354955	0.43	[{'connected_gene': 'CCDC169', 'score': 12.57}, {'connected_gene': 'SPART', 'score': 8.41}, {'connected_gene': 'SOHLH2', 'score': 6.57}, {'connected_gene': 'SPART-AS1', 'score': 0.44}]
chr13	GH13I036296	36296915	36301164	1.97	[{'connected_gene': 'CCDC169', 'score': 562.82}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 550.77}, {'connected_gene': 'SOHLH2', 'score': 42.43}, {'connected_gene': 'SPART-AS1', 'score': 0.25}]
chr13	GH13I036147	36147608	36149034	0.51	[{'connected_gene': 'SOHLH2', 'score': 13.56}, {'connected_gene': 'CCDC169', 'score': 12.43}, {'connected_gene': 'DCLK1', 'score': 0.37}]
chr13	GH13I036364	36364356	36366169	0.2	[{'connected_gene': 'SOHLH2', 'score': 29.79}, {'connected_gene': 'CCDC169', 'score': 12.09}, {'connected_gene': 'RFXAP', 'score': 10.19}, {'connected_gene': 'SPART', 'score': 8.16}, {'connected_gene': 'SPART-AS1', 'score': 0.37}]
chr13	GH13I036322	36322896	36326266	0.38	[{'connected_gene': 'SOHLH2', 'score': 37.23}, {'connected_gene': 'CCDC169', 'score': 11.75}, {'connected_gene': 'SPART-AS1', 'score': 0.34}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.31}, {'connected_gene': 'SPART', 'score': 0.25}]
chr13	GH13I036082	36082495	36083521	0.31	[{'connected_gene': 'SOHLH2', 'score': 6.28}, {'connected_gene': 'CCDC169', 'score': 5.11}, {'connected_gene': 'NMTRQ-TTG10-1', 'score': 0.37}, {'connected_gene': 'DCLK1', 'score': 0.25}]
chr13	GH13I036142	36142777	36144440	0.38	[{'connected_gene': 'SOHLH2', 'score': 13.63}, {'connected_gene': 'RFXAP', 'score': 13.06}, {'connected_gene': 'CCDC169', 'score': 11.84}, {'connected_gene': 'DCLK1', 'score': 0.39}]
chr13	GH13I036275	36275160	36276720	0.52	[{'connected_gene': 'SOHLH2', 'score': 44.14}, {'connected_gene': 'RFXAP', 'score': 9.82}, {'connected_gene': 'RNU6-71P', 'score': 0.44}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.34}, {'connected_gene': 'CCDC169', 'score': 0.34}]
chr13	GH13I035917	35917384	35918751	0.4	[{'connected_gene': 'SOHLH2', 'score': 4.27}, {'connected_gene': 'LOC105370163', 'score': 0.21}, {'connected_gene': 'GC13P036065', 'score': 0.11}, {'connected_gene': 'DCLK1', 'score': 0.08}]
chr13	GH13I036214	36214534	36214593	0.89	[{'connected_gene': 'SOHLH2', 'score': 550.77}, {'connected_gene': 'RNU6-71P', 'score': 11.06}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.18}, {'connected_gene': 'DCLK1', 'score': 0.18}]
chr13	GH13I036332	36332604	36333799	0.72	[{'connected_gene': 'SOHLH2', 'score': 35.72}, {'connected_gene': 'SPART-AS1', 'score': 0.39}, {'connected_gene': 'SPART', 'score': 0.28}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.28}, {'connected_gene': 'CCDC169', 'score': 0.28}]
chr13	GH13I036356	36356970	36358700	0.4	[{'connected_gene': 'SOHLH2', 'score': 12.85}, {'connected_gene': 'SPART-AS1', 'score': 0.39}, {'connected_gene': 'SPART', 'score': 0.39}]
chr13	GH13I036349	36349113	36350638	0.2	[{'connected_gene': 'SOHLH2', 'score': 35.52}, {'connected_gene': 'SPART-AS1', 'score': 0.77}, {'connected_gene': 'SPART', 'score': 0.34}]
chr13	GH13I036369	36369018	36370124	0.72	[{'connected_gene': 'SPART', 'score': 558.19}, {'connected_gene': 'CCDC169', 'score': 12.08}, {'connected_gene': 'SOHLH2', 'score': 6.49}, {'connected_gene': 'SPART-AS1', 'score': 0.34}]
chr13	GH13I036343	36343518	36347610	2.23	[{'connected_gene': 'SPART', 'score': 570.72}, {'connected_gene': 'SPART-AS1', 'score': 550.77}, {'connected_gene': 'SOHLH2', 'score': 33.56}, {'connected_gene': 'CCDC169', 'score': 13.3}, {'connected_gene': 'RFXAP', 'score': 9.7}, {'connected_gene': 'CCDC169-SOHLH2', 'score': 0.25}]