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
NM_025248	[[36686258, 36689666], [36700057, 36700204], [36704792, 36704945], [36705291, 36705446], [36707390, 36707625], [36708121, 36708368], [36708682, 36708830], [36708960, 36709091], [36714462, 36714638], [36715820, 36716008], [36716289, 36716333], [36716568, 36716661], [36717698, 36718564], [36719062, 36719156], [36719558, 36719757], [36720353, 36720549], [36724458, 36724479], [36734742, 36735044], [36761936, 36762183]]	[[36689531, 36689666], [36700057, 36700204], [36704792, 36704945], [36705291, 36705446], [36707390, 36707625], [36708121, 36708368], [36708682, 36708830], [36708960, 36709091], [36714462, 36714638], [36715820, 36716008], [36716289, 36716333], [36716568, 36716661], [36717698, 36718564], [36719062, 36719156], [36719558, 36719757], [36720353, 36720549], [36724458, 36724479], [36734742, 36735044], [36761936, 36761958]]

Promoter

Chrom	Start	End	Description
chr17	36715685	36715749	CAGE_peak_3_at_SRCIN1_5end
chr17	36720231	36720253	CAGE_peak_15_at_SRCIN1_5end
chr17	36720259	36720277	CAGE_peak_14_at_SRCIN1_5end
chr17	36720287	36720302	CAGE_peak_18_at_SRCIN1_5end
chr17	36729056	36729072	CAGE_peak_8_at_SRCIN1_5end
chr17	36729115	36729139	CAGE_peak_6_at_SRCIN1_5end
chr17	36729155	36729168	CAGE_peak_10_at_SRCIN1_5end
chr17	36729225	36729237	CAGE_peak_11_at_SRCIN1_5end
chr17	36729247	36729271	CAGE_peak_4_at_SRCIN1_5end
chr17	36729275	36729293	CAGE_peak_5_at_SRCIN1_5end
chr17	36729308	36729317	CAGE_peak_16_at_SRCIN1_5end
chr17	36760961	36760976	CAGE_peak_2_at_SRCIN1_5end
chr17	36760978	36760995	CAGE_peak_9_at_SRCIN1_5end
chr17	36761005	36761016	CAGE_peak_13_at_SRCIN1_5end
chr17	36762125	36762212	CAGE_peak_1_at_SRCIN1_5end
chr17	36762225	36762241	CAGE_peak_7_at_SRCIN1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I038550	38550510	38553910	0.6	[{'connected_gene': 'SRCIN1', 'score': 17.7}, {'connected_gene': 'ARL5C', 'score': 4.6}, {'connected_gene': 'LOC105371761', 'score': 0.39}, {'connected_gene': 'GC17P038534', 'score': 0.37}, {'connected_gene': 'GC17P038504', 'score': 0.25}]
chr17	GH17I038560	38560800	38561067	0.8	[{'connected_gene': 'SRCIN1', 'score': 2.64}, {'connected_gene': 'SOCS7', 'score': 1.65}, {'connected_gene': 'LOC105371761', 'score': 0.77}, {'connected_gene': 'GC17P038534', 'score': 0.31}]
chr17	GH17I038553	38553988	38556367	0.31	[{'connected_gene': 'SRCIN1', 'score': 18.66}, {'connected_gene': 'LOC105371761', 'score': 0.44}, {'connected_gene': 'GC17P038534', 'score': 0.34}]
chr17	GH17I038566	38566988	38572373	0.76	[{'connected_gene': 'SRCIN1', 'score': 6.24}, {'connected_gene': 'LOC105371761', 'score': 0.44}, {'connected_gene': 'ENSG00000274996', 'score': 0.29}]
chr17	GH17I038604	38604988	38607585	2.23	[{'connected_gene': 'SRCIN1', 'score': 550.77}, {'connected_gene': 'GC17P038603', 'score': 0.77}, {'connected_gene': 'GC17M038621', 'score': 0.37}]
chr17	GH17I038608	38608416	38610693	0.8	[{'connected_gene': 'SRCIN1', 'score': 0.77}, {'connected_gene': 'GC17P038603', 'score': 0.44}, {'connected_gene': 'GC17M038621', 'score': 0.39}]
chr17	GH17I038432	38432749	38433115	0.42	[{'connected_gene': 'ARHGAP23', 'score': 4.03}, {'connected_gene': 'SRCIN1', 'score': 2.64}, {'connected_gene': 'GC17P038495', 'score': 0.77}, {'connected_gene': 'GC17M038445', 'score': 0.39}, {'connected_gene': 'PIR40196', 'score': 0.39}]
chr17	GH17I038614	38614068	38614217	0.97	[{'connected_gene': 'CDK12', 'score': 17.65}, {'connected_gene': 'MED1', 'score': 14.99}, {'connected_gene': 'RPL23', 'score': 12.14}, {'connected_gene': 'SNORA21', 'score': 12.12}, {'connected_gene': 'LOC105371762', 'score': 11.85}, {'connected_gene': 'RPL19', 'score': 10.92}, {'connected_gene': 'ENSG00000263466', 'score': 10.07}, {'connected_gene': 'SRCIN1', 'score': 0.44}, {'connected_gene': 'GC17M038621', 'score': 0.44}]
chr17	GH17I038598	38598648	38598857	1.17	[{'connected_gene': 'CDK12', 'score': 19.97}, {'connected_gene': 'MED1', 'score': 15.86}, {'connected_gene': 'SNORA21', 'score': 12.46}, {'connected_gene': 'LOC105371762', 'score': 12.34}, {'connected_gene': 'ENSG00000274996', 'score': 0.77}, {'connected_gene': 'SRCIN1', 'score': 0.44}, {'connected_gene': 'LOC105371761', 'score': 0.29}]
chr17	GH17I038578	38578642	38580812	0.84	[{'connected_gene': 'ARL5C', 'score': 4.9}, {'connected_gene': 'LOC105371761', 'score': 0.37}, {'connected_gene': 'ENSG00000274996', 'score': 0.34}, {'connected_gene': 'SRCIN1', 'score': 0.31}]
chr17	GH17I038557	38557331	38560154	1.75	[{'connected_gene': 'LOC105371762', 'score': 18.73}, {'connected_gene': 'CDK12', 'score': 18.37}, {'connected_gene': 'MED1', 'score': 12.12}, {'connected_gene': 'RPL19', 'score': 10.22}, {'connected_gene': 'LOC105371761', 'score': 0.44}, {'connected_gene': 'GC17P038534', 'score': 0.34}, {'connected_gene': 'SRCIN1', 'score': 0.25}]
chr17	GH17I038581	38581439	38583158	0.38	[{'connected_gene': 'LOC105371761', 'score': 0.37}, {'connected_gene': 'ENSG00000274996', 'score': 0.37}, {'connected_gene': 'SRCIN1', 'score': 0.34}]
chr17	GH17I038574	38573269	38573560	0.59	[{'connected_gene': 'LOC105371761', 'score': 0.44}, {'connected_gene': 'ENSG00000274996', 'score': 0.31}, {'connected_gene': 'SRCIN1', 'score': 0.29}]
chr17	GH17I038572	38572954	38573103	0.88	[{'connected_gene': 'LOC105371761', 'score': 0.44}, {'connected_gene': 'ENSG00000274996', 'score': 0.31}, {'connected_gene': 'SRCIN1', 'score': 0.29}]
chr17	GH17I038579	38578294	38578443	0.58	[{'connected_gene': 'LOC105371761', 'score': 0.39}, {'connected_gene': 'ENSG00000274996', 'score': 0.34}, {'connected_gene': 'SRCIN1', 'score': 0.31}]
chr17	GH17I038562	38562095	38563201	0.43	[{'connected_gene': 'LOC105371761', 'score': 550.77}, {'connected_gene': 'GC17P038534', 'score': 0.31}, {'connected_gene': 'SRCIN1', 'score': 0.26}]
chr17	GH17I038565	38565801	38566027	0.31	[{'connected_gene': 'LOC105371761', 'score': 550.77}, {'connected_gene': 'ENSG00000274996', 'score': 0.28}, {'connected_gene': 'SRCIN1', 'score': 0.26}]
chr17	GH17I038573	38573701	38574008	0.31	[{'connected_gene': 'LOC105371761', 'score': 0.44}, {'connected_gene': 'ENSG00000274996', 'score': 0.31}, {'connected_gene': 'SRCIN1', 'score': 0.29}]
chr17	GH17I038564	38564939	38565373	0.57	[{'connected_gene': 'LOC105371761', 'score': 550.77}, {'connected_gene': 'ENSG00000274996', 'score': 0.28}, {'connected_gene': 'SRCIN1', 'score': 0.26}]
chr17	GH17I038568	38564224	38564701	0.46	[{'connected_gene': 'LOC105371761', 'score': 550.77}, {'connected_gene': 'ENSG00000274996', 'score': 0.28}, {'connected_gene': 'SRCIN1', 'score': 0.26}]
chr17	GH17I038563	38563925	38564074	0.76	[{'connected_gene': 'LOC105371761', 'score': 550.77}, {'connected_gene': 'GC17P038534', 'score': 0.31}, {'connected_gene': 'SRCIN1', 'score': 0.26}]
chr17	GH17I038575	38575998	38578196	0.57	[{'connected_gene': 'LOC105371761', 'score': 0.39}, {'connected_gene': 'ENSG00000274996', 'score': 0.34}, {'connected_gene': 'SRCIN1', 'score': 0.31}]
chr17	GH17I038567	38565381	38565766	0.59	[{'connected_gene': 'LOC105371761', 'score': 550.77}, {'connected_gene': 'ARHGAP23', 'score': 3.48}, {'connected_gene': 'SRCIN1', 'score': 1.63}, {'connected_gene': 'ENSG00000274996', 'score': 0.28}]
chr17	GH17I038657	38657117	38658431	1.34	[{'connected_gene': 'EPOP', 'score': 2.04}, {'connected_gene': 'ARHGAP23', 'score': 2.0}, {'connected_gene': 'SRCIN1', 'score': 1.89}, {'connected_gene': 'GC17M038673', 'score': 0.37}, {'connected_gene': 'GC17M038636', 'score': 0.34}]
chr17	GH17I038671	38671928	38672057	0.54	[{'connected_gene': 'GC17M038673', 'score': 550.77}, {'connected_gene': 'SRCIN1', 'score': 11.69}, {'connected_gene': 'CISD3', 'score': 11.65}, {'connected_gene': 'EPOP', 'score': 0.77}, {'connected_gene': 'GC17M038636', 'score': 0.29}]
chr17	GH17I038587	38587741	38589649	0.59	[{'connected_gene': 'ENSG00000274996', 'score': 0.39}, {'connected_gene': 'SRCIN1', 'score': 0.37}, {'connected_gene': 'LOC105371761', 'score': 0.34}]
chr17	GH17I038584	38584147	38585879	1.35	[{'connected_gene': 'ENSG00000274996', 'score': 0.37}, {'connected_gene': 'SRCIN1', 'score': 0.34}, {'connected_gene': 'LOC105371761', 'score': 0.34}]
chr17	GH17I038590	38590827	38592577	1.5	[{'connected_gene': 'ENSG00000274996', 'score': 0.44}, {'connected_gene': 'SRCIN1', 'score': 0.39}, {'connected_gene': 'LOC105371761', 'score': 0.31}]
chr17	GH17I038593	38593589	38595157	0.2	[{'connected_gene': 'ENSG00000274996', 'score': 0.44}, {'connected_gene': 'SRCIN1', 'score': 0.39}, {'connected_gene': 'LOC105371761', 'score': 0.29}]
chr17	GH17I038619	38619914	38620697	0.69	[{'connected_gene': 'GC17M038621', 'score': 550.77}, {'connected_gene': 'SRCIN1', 'score': 0.39}]
chr17	GH17I038419	38419617	38423178	1.31	[{'connected_gene': 'GC17M038423', 'score': 550.77}, {'connected_gene': 'PIR51176', 'score': 550.77}, {'connected_gene': 'GC17P038497', 'score': 550.77}, {'connected_gene': 'GPR179', 'score': 10.46}, {'connected_gene': 'SRCIN1', 'score': 3.86}, {'connected_gene': 'SOCS7', 'score': 2.43}, {'connected_gene': 'ARHGAP23', 'score': 2.05}]
chr17	GH17I038600	38600370	38603582	1.55	[{'connected_gene': 'ENSG00000274996', 'score': 550.77}, {'connected_gene': 'GC17P038603', 'score': 550.77}, {'connected_gene': 'LOC105371762', 'score': 18.76}, {'connected_gene': 'CDK12', 'score': 18.37}, {'connected_gene': 'MED1', 'score': 12.12}, {'connected_gene': 'RPL19', 'score': 10.22}, {'connected_gene': 'SRCIN1', 'score': 4.62}, {'connected_gene': 'PIP4K2B', 'score': 2.54}, {'connected_gene': 'SOCS7', 'score': 2.37}, {'connected_gene': 'GPR179', 'score': 1.49}, {'connected_gene': 'ARHGAP23', 'score': 1.27}]
chr17	GH17I038538	38538986	38539135	0.2	[{'connected_gene': 'GC17P038534', 'score': 0.77}, {'connected_gene': 'LOC105371761', 'score': 0.31}, {'connected_gene': 'GC17P038504', 'score': 0.29}, {'connected_gene': 'SRCIN1', 'score': 0.2}]