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
ENST00000323469	[[2714564, 2717873], [2721301, 2721416]]	[[2717207, 2717804]]
ENST00000585334	[[2717129, 2717903]]	[[2717207, 2717804]]
ENST00000588128	[[2717396, 2717873], [2719149, 2719180], [2721301, 2721339]]	[[2717396, 2717804]]
NM_145173	[[2714564, 2717873], [2721301, 2721390]]	[[2717207, 2717804]]

Promoter

Chrom	Start	End	Description
chr19	2716727	2716731	CAGE_peak_10_at_DIRAS1_5end
chr19	2721336	2721383	CAGE_peak_1_at_DIRAS1_5end
chr19	2721393	2721410	CAGE_peak_2_at_DIRAS1_5end
chr19	2721412	2721419	CAGE_peak_3_at_DIRAS1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I002636	2636202	2637925	1.28	[{'connected_gene': 'TCF3', 'score': 17.08}, {'connected_gene': 'SF3A2', 'score': 15.92}, {'connected_gene': 'LOC100288123', 'score': 13.44}, {'connected_gene': 'CACTIN-AS1', 'score': 13.42}, {'connected_gene': 'SLC39A3', 'score': 12.35}, {'connected_gene': 'DIRAS1', 'score': 11.84}, {'connected_gene': 'GNG7', 'score': 11.07}, {'connected_gene': 'ZNF57', 'score': 10.39}, {'connected_gene': 'LOC101928631', 'score': 10.39}, {'connected_gene': 'HMG20B', 'score': 10.05}, {'connected_gene': 'ZNF77', 'score': 9.84}, {'connected_gene': 'GC19P002642', 'score': 0.44}, {'connected_gene': 'ENSG00000267214', 'score': 0.44}]
chr19	GH19I002685	2685402	2686745	1.02	[{'connected_gene': 'SF3A2', 'score': 13.67}, {'connected_gene': 'CACTIN-AS1', 'score': 12.24}, {'connected_gene': 'ZNF77', 'score': 11.6}, {'connected_gene': 'CACTIN', 'score': 11.37}, {'connected_gene': 'LOC100288123', 'score': 10.19}, {'connected_gene': 'GNG7', 'score': 9.0}, {'connected_gene': 'DIRAS1', 'score': 6.14}, {'connected_gene': 'ENSG00000276097', 'score': 0.37}, {'connected_gene': 'PIR43863', 'score': 0.31}]
chr19	GH19I002760	2760277	2762164	0.49	[{'connected_gene': 'THOP1', 'score': 17.36}, {'connected_gene': 'SLC39A3', 'score': 12.67}, {'connected_gene': 'DIRAS1', 'score': 11.89}, {'connected_gene': 'ZNF57', 'score': 11.1}, {'connected_gene': 'LOC101928631', 'score': 11.08}, {'connected_gene': 'ZNF554', 'score': 8.16}, {'connected_gene': 'GC19M002766', 'score': 0.44}, {'connected_gene': 'GC19M002753', 'score': 0.44}, {'connected_gene': 'SGTA', 'score': 0.34}]
chr19	GH19I002769	2769198	2772879	1.2	[{'connected_gene': 'THOP1', 'score': 18.48}, {'connected_gene': 'ZNF554', 'score': 8.14}, {'connected_gene': 'DIRAS1', 'score': 3.34}, {'connected_gene': 'AES', 'score': 2.54}, {'connected_gene': 'GC19M002770', 'score': 0.77}, {'connected_gene': 'PIR59751', 'score': 0.77}, {'connected_gene': 'GC19P002768', 'score': 0.77}, {'connected_gene': 'SGTA', 'score': 0.39}]
chr19	GH19I002615	2615802	2633599	1.76	[{'connected_gene': 'ZNF77', 'score': 30.54}, {'connected_gene': 'GADD45B', 'score': 24.29}, {'connected_gene': 'SF3A2', 'score': 13.1}, {'connected_gene': 'RNU6-993P', 'score': 13.0}, {'connected_gene': 'GNA11', 'score': 12.12}, {'connected_gene': 'SLC39A3', 'score': 11.22}, {'connected_gene': 'PEAK3', 'score': 10.85}, {'connected_gene': 'CACTIN-AS1', 'score': 10.16}, {'connected_gene': 'TLE2', 'score': 10.0}, {'connected_gene': 'DOT1L', 'score': 8.25}, {'connected_gene': 'SPPL2B', 'score': 4.61}, {'connected_gene': 'OAZ1', 'score': 4.45}, {'connected_gene': 'GNG7', 'score': 3.17}, {'connected_gene': 'DIRAS1', 'score': 1.9}, {'connected_gene': 'PIR33921', 'score': 0.44}, {'connected_gene': 'MIR7850', 'score': 0.44}, {'connected_gene': 'ENSG00000267214', 'score': 0.44}, {'connected_gene': 'ENSG00000267412', 'score': 0.39}]
chr19	GH19I002693	2693534	2696661	1.2	[{'connected_gene': 'ZNF77', 'score': 22.41}, {'connected_gene': 'CACTIN-AS1', 'score': 18.96}, {'connected_gene': 'DIRAS1', 'score': 18.4}, {'connected_gene': 'CACTIN', 'score': 16.78}, {'connected_gene': 'GNG7', 'score': 15.73}, {'connected_gene': 'SLC39A3', 'score': 12.29}, {'connected_gene': 'ZNF556', 'score': 10.52}, {'connected_gene': 'LINGO3', 'score': 2.28}, {'connected_gene': 'ENSG00000276097', 'score': 0.44}, {'connected_gene': 'PIR43863', 'score': 0.28}]
chr19	GH19I002586	2586631	2589281	1.56	[{'connected_gene': 'TMPRSS9', 'score': 11.83}, {'connected_gene': 'GNG7', 'score': 2.87}, {'connected_gene': 'LINGO3', 'score': 1.27}, {'connected_gene': 'DIRAS1', 'score': 1.21}, {'connected_gene': 'RN7SL121P', 'score': 0.44}, {'connected_gene': 'PIR44748', 'score': 0.34}]
chr19	GH19I002738	2738342	2740712	2.11	[{'connected_gene': 'SLC39A3', 'score': 562.68}, {'connected_gene': 'ENSG00000267001', 'score': 550.77}, {'connected_gene': 'GC19P002738', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 35.22}, {'connected_gene': 'LOC100288123', 'score': 28.41}, {'connected_gene': 'ZNF77', 'score': 24.69}, {'connected_gene': 'CACTIN-AS1', 'score': 24.41}, {'connected_gene': 'DOT1L', 'score': 22.48}, {'connected_gene': 'ZNF555', 'score': 19.88}, {'connected_gene': 'CACTIN', 'score': 19.88}, {'connected_gene': 'GNA11', 'score': 19.8}, {'connected_gene': 'THOP1', 'score': 13.51}, {'connected_gene': 'ZNF554', 'score': 13.19}, {'connected_gene': 'TLE2', 'score': 12.05}, {'connected_gene': 'DIRAS1', 'score': 11.65}, {'connected_gene': 'ENSG00000267139', 'score': 11.52}, {'connected_gene': 'ATP8B3', 'score': 11.25}, {'connected_gene': 'SPPL2B', 'score': 10.54}, {'connected_gene': 'ENSG00000267283', 'score': 10.32}, {'connected_gene': 'MKNK2', 'score': 4.46}]
chr19	GH19I002659	2659944	2660992	0.31	[{'connected_gene': 'SLC39A3', 'score': 12.37}, {'connected_gene': 'GNG7', 'score': 12.3}, {'connected_gene': 'DIRAS1', 'score': 12.15}, {'connected_gene': 'ZNF77', 'score': 9.95}, {'connected_gene': 'PIR43863', 'score': 0.77}, {'connected_gene': 'ENSG00000276097', 'score': 0.26}]
chr19	GH19I002639	2639091	2639849	1.09	[{'connected_gene': 'SLC39A3', 'score': 12.35}, {'connected_gene': 'DIRAS1', 'score': 11.84}, {'connected_gene': 'GNG7', 'score': 11.08}, {'connected_gene': 'ZNF57', 'score': 10.39}, {'connected_gene': 'LOC101928631', 'score': 10.39}, {'connected_gene': 'ZNF77', 'score': 9.84}, {'connected_gene': 'GC19P002642', 'score': 0.77}, {'connected_gene': 'ENSG00000267214', 'score': 0.44}]
chr19	GH19I002701	2701101	2703352	2.05	[{'connected_gene': 'GNG7', 'score': 558.5}, {'connected_gene': 'ENSG00000276097', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 41.57}, {'connected_gene': 'CACTIN', 'score': 34.48}, {'connected_gene': 'ZNF77', 'score': 32.35}, {'connected_gene': 'CACTIN-AS1', 'score': 32.05}, {'connected_gene': 'LOC100288123', 'score': 28.65}, {'connected_gene': 'ZNF555', 'score': 13.27}, {'connected_gene': 'SGTA', 'score': 12.05}, {'connected_gene': 'ATP8B3', 'score': 11.96}, {'connected_gene': 'ENSG00000267139', 'score': 11.91}, {'connected_gene': 'TLE2', 'score': 11.9}, {'connected_gene': 'GNA11', 'score': 11.33}, {'connected_gene': 'CSNK1G2', 'score': 11.2}, {'connected_gene': 'DOT1L', 'score': 10.78}, {'connected_gene': 'ENSG00000267283', 'score': 10.25}, {'connected_gene': 'SPPL2B', 'score': 10.25}, {'connected_gene': 'ENSG00000261342', 'score': 10.01}, {'connected_gene': 'THOP1', 'score': 9.98}, {'connected_gene': 'C19orf71', 'score': 9.86}, {'connected_gene': 'DIRAS1', 'score': 5.78}]
chr19	GH19I002679	2679368	2682887	1.15	[{'connected_gene': 'GNG7', 'score': 7.61}, {'connected_gene': 'DIRAS1', 'score': 5.11}, {'connected_gene': 'PIR43863', 'score': 0.34}, {'connected_gene': 'ENSG00000276097', 'score': 0.34}]
chr19	GH19I002722	2722450	2723971	0.84	[{'connected_gene': 'DIRAS1', 'score': 556.06}, {'connected_gene': 'GC19P002723', 'score': 550.77}, {'connected_gene': 'CACTIN', 'score': 14.46}, {'connected_gene': 'ZNF77', 'score': 13.4}, {'connected_gene': 'SF3A2', 'score': 13.09}, {'connected_gene': 'CACTIN-AS1', 'score': 10.16}, {'connected_gene': 'ENSG00000267001', 'score': 0.37}]
chr19	GH19I002690	2690445	2692940	0.46	[{'connected_gene': 'DIRAS1', 'score': 18.35}, {'connected_gene': 'SLC39A3', 'score': 12.29}, {'connected_gene': 'ZNF556', 'score': 10.52}, {'connected_gene': 'GNG7', 'score': 8.96}, {'connected_gene': 'ENSG00000276097', 'score': 0.44}, {'connected_gene': 'PIR43863', 'score': 0.28}]
chr19	GH19I002698	2697144	2697317	0.2	[{'connected_gene': 'DIRAS1', 'score': 12.31}, {'connected_gene': 'SLC39A3', 'score': 11.73}, {'connected_gene': 'ENSG00000276097', 'score': 0.77}, {'connected_gene': 'GNG7', 'score': 0.44}, {'connected_gene': 'PIR43863', 'score': 0.26}]
chr19	GH19I002683	2683191	2684056	0.2	[{'connected_gene': 'DIRAS1', 'score': 5.96}, {'connected_gene': 'GNG7', 'score': 0.37}, {'connected_gene': 'ENSG00000276097', 'score': 0.37}, {'connected_gene': 'PIR43863', 'score': 0.31}]
chr19	GH19I002719	2719794	2720680	0.92	[{'connected_gene': 'DIRAS1', 'score': 562.88}, {'connected_gene': 'JSRP1', 'score': 4.83}, {'connected_gene': 'AES', 'score': 2.52}, {'connected_gene': 'GNG7', 'score': 2.5}, {'connected_gene': 'TLE6', 'score': 2.03}, {'connected_gene': 'GC19P002709', 'score': 0.39}, {'connected_gene': 'ENSG00000267001', 'score': 0.37}]
chr19	GH19I002720	2720800	2721801	1.73	[{'connected_gene': 'DIRAS1', 'score': 556.69}, {'connected_gene': 'GC19P002709', 'score': 0.39}, {'connected_gene': 'ENSG00000267001', 'score': 0.37}]
chr19	GH19I002583	2583265	2583823	0.56	[{'connected_gene': 'ZNF554', 'score': 11.93}, {'connected_gene': 'DIRAS1', 'score': 4.56}, {'connected_gene': 'RN7SL121P', 'score': 0.39}, {'connected_gene': 'PIR44748', 'score': 0.37}, {'connected_gene': 'GNG7', 'score': 0.13}]
chr19	GH19I002641	2641817	2642653	0.2	[{'connected_gene': 'GC19P002642', 'score': 550.77}, {'connected_gene': 'ENSG00000267749', 'score': 550.77}, {'connected_gene': 'SLC39A3', 'score': 12.35}, {'connected_gene': 'DIRAS1', 'score': 11.85}, {'connected_gene': 'GNG7', 'score': 11.08}, {'connected_gene': 'ZNF57', 'score': 10.4}, {'connected_gene': 'LOC101928631', 'score': 10.39}, {'connected_gene': 'ZNF77', 'score': 9.84}, {'connected_gene': 'ENSG00000267214', 'score': 0.39}]
chr19	GH19I002709	2709828	2712353	1.48	[{'connected_gene': 'GC19P002709', 'score': 550.77}, {'connected_gene': 'ENSG00000267304', 'score': 5.84}, {'connected_gene': 'DIRAS1', 'score': 5.75}, {'connected_gene': 'GADD45B', 'score': 3.98}, {'connected_gene': 'GNA15', 'score': 1.63}]
chr19	GH19I002697	2697931	2700764	0.86	[{'connected_gene': 'ENSG00000276097', 'score': 550.77}, {'connected_gene': 'DIRAS1', 'score': 18.18}, {'connected_gene': 'SLC39A3', 'score': 12.0}, {'connected_gene': 'GNG7', 'score': 9.63}, {'connected_gene': 'PIR43863', 'score': 0.26}]
chr19	GH19I002742	2742833	2743936	0.43	[{'connected_gene': 'GC19P002744', 'score': 550.77}, {'connected_gene': 'DIRAS1', 'score': 11.54}, {'connected_gene': 'SLC39A3', 'score': 0.77}]