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
ENST00000376223	[[12627938, 12628453], [12632755, 12632881], [12638745, 12638984], [12639320, 12639440], [12640550, 12640694], [12677158, 12677737]]	[[12628368, 12628453], [12632755, 12632881], [12638745, 12638984], [12639320, 12639440], [12640550, 12640694], [12677158, 12677353]]
ENST00000464917	[[12628420, 12628453], [12632755, 12632881], [12640550, 12640694], [12676563, 12676799]]	None
ENST00000430996	[[12638745, 12638984], [12639320, 12639440], [12640550, 12640694], [12655998, 12656321]]	[[12638745, 12638984], [12639320, 12639440], [12640550, 12640634]]
ENST00000482265	[[12639795, 12640694], [12676563, 12676700]]	None
NM_001324370	[[12627938, 12628453], [12632755, 12632881], [12638745, 12638984], [12639320, 12639440], [12640550, 12640694], [12656221, 12656409]]	[[12628368, 12628453], [12632755, 12632881], [12638745, 12638984], [12639320, 12639440], [12640550, 12640634]]
NM_001319225	[[12627938, 12628453], [12632755, 12632881], [12638745, 12638984], [12639320, 12639440], [12640550, 12640694], [12676563, 12676788]]	[[12628368, 12628453], [12632755, 12632881], [12638745, 12638984], [12639320, 12639440], [12640550, 12640634]]
NM_004753	[[12627938, 12628453], [12632755, 12632881], [12638745, 12638984], [12639320, 12639440], [12640550, 12640694], [12677158, 12677737]]	[[12628368, 12628453], [12632755, 12632881], [12638745, 12638984], [12639320, 12639440], [12640550, 12640694], [12677158, 12677353]]

Promoter

Chrom	Start	End	Description
chr1	12656620	12656639	CAGE_peak_23_at_DHRS3_5end
chr1	12676623	12676632	CAGE_peak_22_at_DHRS3_5end
chr1	12676696	12676745	CAGE_peak_15_at_DHRS3_5end
chr1	12676766	12676799	CAGE_peak_12_at_DHRS3_5end
chr1	12677308	12677315	CAGE_peak_17_at_DHRS3_5end
chr1	12677510	12677525	CAGE_peak_3_at_DHRS3_5end
chr1	12677599	12677613	CAGE_peak_9_at_DHRS3_5end
chr1	12677633	12677640	CAGE_peak_19_at_DHRS3_5end
chr1	12677676	12677707	CAGE_peak_5_at_DHRS3_5end
chr1	12677714	12677729	CAGE_peak_4_at_DHRS3_5end
chr1	12677781	12677800	CAGE_peak_2_at_DHRS3_5end
chr1	12677860	12677865	CAGE_peak_10_at_DHRS3_5end
chr1	12677935	12677987	CAGE_peak_6_at_DHRS3_5end
chr1	12677996	12678016	CAGE_peak_7_at_DHRS3_5end
chr1	12678119	12678130	CAGE_peak_14_at_DHRS3_5end
chr1	12678194	12678203	CAGE_peak_13_at_DHRS3_5end
chr1	12678204	12678238	CAGE_peak_1_at_DHRS3_5end
chr1	12678241	12678252	CAGE_peak_11_at_DHRS3_5end
chr1	12678258	12678280	CAGE_peak_8_at_DHRS3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I012343	12343878	12347289	1.33	[{'connected_gene': 'DHRS3', 'score': 11.41}, {'connected_gene': 'GC01P012422', 'score': 0.18}, {'connected_gene': 'PIR35697', 'score': 0.16}, {'connected_gene': 'GC01P012251', 'score': 0.16}, {'connected_gene': 'VPS13D', 'score': 0.13}]
chr1	GH01I012446	12446516	12451789	1.71	[{'connected_gene': 'DHRS3', 'score': 4.37}, {'connected_gene': 'GC01M012433', 'score': 0.77}, {'connected_gene': 'GC01M012461', 'score': 0.34}, {'connected_gene': 'VPS13D', 'score': 0.08}]
chr1	GH01I012315	12315505	12317181	0.51	[{'connected_gene': 'DHRS3', 'score': 11.88}, {'connected_gene': 'AADACL4', 'score': 11.5}, {'connected_gene': 'RNU6ATAC18P', 'score': 11.26}, {'connected_gene': 'SNORA59A', 'score': 10.43}, {'connected_gene': 'GC01P012251', 'score': 0.2}, {'connected_gene': 'PIR35697', 'score': 0.2}, {'connected_gene': 'VPS13D', 'score': 0.17}, {'connected_gene': 'GC01P012422', 'score': 0.14}]
chr1	GH01I012657	12657613	12657957	1	[{'connected_gene': 'DHRS3', 'score': 11.57}, {'connected_gene': 'AADACL4', 'score': 0.39}, {'connected_gene': 'ENSG00000226166', 'score': 0.28}]
chr1	GH01I012375	12375965	12377488	0.58	[{'connected_gene': 'DHRS3', 'score': 11.23}, {'connected_gene': 'RNU6ATAC18P', 'score': 10.76}, {'connected_gene': 'AADACL4', 'score': 10.69}, {'connected_gene': 'SNORA59A', 'score': 10.24}, {'connected_gene': 'GC01P012422', 'score': 0.25}, {'connected_gene': 'GC01P012251', 'score': 0.13}, {'connected_gene': 'PIR35697', 'score': 0.13}, {'connected_gene': 'VPS13D', 'score': 0.11}]
chr1	GH01I012608	12608045	12611155	0.87	[{'connected_gene': 'DHRS3', 'score': 0.44}, {'connected_gene': 'MIR6730', 'score': 0.29}]
chr1	GH01I012613	12613002	12613840	0.2	[{'connected_gene': 'DHRS3', 'score': 0.77}, {'connected_gene': 'MIR6730', 'score': 0.29}]
chr1	GH01I012658	12658911	12659442	1.1	[{'connected_gene': 'DHRS3', 'score': 11.55}, {'connected_gene': 'NPPA-AS1', 'score': 5.37}, {'connected_gene': 'AADACL4', 'score': 0.39}, {'connected_gene': 'ENSG00000226166', 'score': 0.29}]
chr1	GH01I012379	12379166	12384498	1.12	[{'connected_gene': 'SNORA59A', 'score': 10.89}, {'connected_gene': 'DHRS3', 'score': 10.69}, {'connected_gene': 'GC01P012422', 'score': 0.26}, {'connected_gene': 'PIR35697', 'score': 0.12}, {'connected_gene': 'GC01P012251', 'score': 0.12}, {'connected_gene': 'VPS13D', 'score': 0.1}]
chr1	GH01I012460	12460108	12465849	1.25	[{'connected_gene': 'SNORA59A', 'score': 11.67}, {'connected_gene': 'DHRS3', 'score': 11.24}, {'connected_gene': 'GC01M012461', 'score': 0.44}, {'connected_gene': 'GC01M012433', 'score': 0.37}, {'connected_gene': 'VPS13D', 'score': 0.07}]
chr1	GH01I012452	12452602	12458601	1.61	[{'connected_gene': 'SNORA59A', 'score': 11.64}, {'connected_gene': 'DHRS3', 'score': 11.33}, {'connected_gene': 'RNU6ATAC18P', 'score': 11.22}, {'connected_gene': 'AADACL4', 'score': 1.89}, {'connected_gene': 'VPS13D', 'score': 1.36}, {'connected_gene': 'GC01M012433', 'score': 0.44}, {'connected_gene': 'GC01M012461', 'score': 0.39}]
chr1	GH01I012484	12484540	12487240	1.16	[{'connected_gene': 'SNORA59A', 'score': 12.07}, {'connected_gene': 'RNU6ATAC18P', 'score': 11.11}, {'connected_gene': 'DHRS3', 'score': 2.36}, {'connected_gene': 'GC01P012478', 'score': 0.44}, {'connected_gene': 'GC01M012503', 'score': 0.37}, {'connected_gene': 'VPS13D', 'score': 0.07}]
chr1	GH01I012585	12585227	12587133	0.67	[{'connected_gene': 'SNORA59A', 'score': 10.9}, {'connected_gene': 'MIR6730', 'score': 0.44}, {'connected_gene': 'DHRS3', 'score': 0.29}]
chr1	GH01I012590	12590639	12599606	1.8	[{'connected_gene': 'VPS13D', 'score': 11.41}, {'connected_gene': 'MIR6730', 'score': 0.37}, {'connected_gene': 'DHRS3', 'score': 0.34}]
chr1	GH01I012599	12599955	12605518	1.49	[{'connected_gene': 'PLOD1', 'score': 4.89}, {'connected_gene': 'DHRS3', 'score': 0.37}, {'connected_gene': 'MIR6730', 'score': 0.34}]
chr1	GH01I012432	12432788	12440514	1.71	[{'connected_gene': 'AADACL4', 'score': 13.68}, {'connected_gene': 'DHRS3', 'score': 10.9}, {'connected_gene': 'SNORA59A', 'score': 10.61}, {'connected_gene': 'GC01M012433', 'score': 0.44}, {'connected_gene': 'GC01P012422', 'score': 0.39}, {'connected_gene': 'VPS13D', 'score': 0.08}]
chr1	GH01I012425	12425560	12425731	0.44	[{'connected_gene': 'AADACL4', 'score': 12.35}, {'connected_gene': 'DHRS3', 'score': 10.82}, {'connected_gene': 'RNU6ATAC18P', 'score': 10.47}, {'connected_gene': 'SNORA59A', 'score': 10.16}, {'connected_gene': 'PRAMEF1', 'score': 1.82}, {'connected_gene': 'GC01P012422', 'score': 0.77}, {'connected_gene': 'GC01M012433', 'score': 0.34}, {'connected_gene': 'VPS13D', 'score': 0.08}]
chr1	GH01I012572	12572524	12574905	1.06	[{'connected_gene': 'CLCN6', 'score': 16.5}, {'connected_gene': 'RNU6ATAC18P', 'score': 0.77}, {'connected_gene': 'GC01M012569', 'score': 0.77}, {'connected_gene': 'MIR6730', 'score': 0.44}, {'connected_gene': 'DHRS3', 'score': 0.26}]
chr1	GH01I012395	12395794	12396955	0.2	[{'connected_gene': 'RNU6ATAC18P', 'score': 10.99}, {'connected_gene': 'DHRS3', 'score': 10.67}, {'connected_gene': 'SNORA59A', 'score': 10.05}, {'connected_gene': 'GC01P012422', 'score': 0.31}, {'connected_gene': 'PIR35697', 'score': 0.11}, {'connected_gene': 'GC01P012251', 'score': 0.11}, {'connected_gene': 'VPS13D', 'score': 0.1}]
chr1	GH01I012427	12427513	12428879	0.49	[{'connected_gene': 'RNU6ATAC18P', 'score': 10.96}, {'connected_gene': 'DHRS3', 'score': 10.82}, {'connected_gene': 'AADACL4', 'score': 10.32}, {'connected_gene': 'SNORA59A', 'score': 10.16}, {'connected_gene': 'GC01P012422', 'score': 0.44}, {'connected_gene': 'GC01M012433', 'score': 0.37}, {'connected_gene': 'VPS13D', 'score': 0.08}]
chr1	GH01I012548	12548256	12551047	1.7	[{'connected_gene': 'RNU6ATAC18P', 'score': 13.24}, {'connected_gene': 'SNORA59A', 'score': 12.62}, {'connected_gene': 'DHRS3', 'score': 11.7}, {'connected_gene': 'PIR41325', 'score': 0.44}, {'connected_gene': 'PIR43536', 'score': 0.44}]
chr1	GH01I012569	12569888	12571650	0.46	[{'connected_gene': 'RNU6ATAC18P', 'score': 550.77}, {'connected_gene': 'GC01M012569', 'score': 550.77}, {'connected_gene': 'MIR6730', 'score': 0.44}, {'connected_gene': 'DHRS3', 'score': 0.25}]
chr1	GH01I012579	12579573	12581755	0.74	[{'connected_gene': 'MIR6730', 'score': 550.77}, {'connected_gene': 'DHRS3', 'score': 0.28}]
chr1	GH01I012588	12588309	12588458	0.89	[{'connected_gene': 'MIR6730', 'score': 0.44}, {'connected_gene': 'DHRS3', 'score': 0.31}]
chr1	GH01I011907	11907231	11910363	2.15	[{'connected_gene': 'RNU5E-4P', 'score': 550.77}, {'connected_gene': 'RNU5E-1', 'score': 550.77}, {'connected_gene': 'TARDBP', 'score': 57.49}, {'connected_gene': 'UBIAD1', 'score': 53.62}, {'connected_gene': 'ENSG00000226849', 'score': 41.84}, {'connected_gene': 'CLCN6', 'score': 16.17}, {'connected_gene': 'VPS13D', 'score': 12.6}, {'connected_gene': 'SNORA59A', 'score': 12.39}, {'connected_gene': 'MFN2', 'score': 10.93}, {'connected_gene': 'EXOSC10', 'score': 10.87}, {'connected_gene': 'DHRS3', 'score': 10.44}, {'connected_gene': 'ENSG00000271895', 'score': 10.01}, {'connected_gene': 'NPPA-AS1', 'score': 9.43}, {'connected_gene': 'PLOD1', 'score': 8.05}, {'connected_gene': 'KIAA2013', 'score': 7.32}, {'connected_gene': 'MTHFR', 'score': 1.73}, {'connected_gene': 'MIIP', 'score': 1.3}]
chr1	GH01I012614	12614003	12620773	2.57	[{'connected_gene': 'ENSG00000272482', 'score': 550.77}, {'connected_gene': 'DHRS3', 'score': 550.77}, {'connected_gene': 'VPS13D', 'score': 11.78}, {'connected_gene': 'MIR6730', 'score': 0.28}]
chr1	GH01I012555	12555602	12558031	1.33	[{'connected_gene': 'PIR41325', 'score': 550.77}, {'connected_gene': 'SNORA59A', 'score': 11.02}, {'connected_gene': 'DHRS3', 'score': 3.25}, {'connected_gene': 'PIR43536', 'score': 0.37}]
chr1	GH01I012564	12564307	12568616	0.73	[{'connected_gene': 'GC01M012563', 'score': 550.77}, {'connected_gene': 'GC01M012564', 'score': 550.77}, {'connected_gene': 'SNORA59A', 'score': 10.62}, {'connected_gene': 'RNU6ATAC18P', 'score': 0.77}, {'connected_gene': 'GC01M012569', 'score': 0.77}, {'connected_gene': 'DHRS3', 'score': 0.23}]
chr1	GH01I012539	12539291	12542573	1.66	[{'connected_gene': 'PIR43536', 'score': 550.77}, {'connected_gene': 'CLCN6', 'score': 20.02}, {'connected_gene': 'DHRS3', 'score': 3.93}, {'connected_gene': 'PIR41325', 'score': 0.37}]