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
ENST00000579991	[[56160775, 56161044], [56164442, 56164583], [56166502, 56172897]]	[[56164451, 56164583], [56166502, 56166640]]
NM_080677	[[56160779, 56161044], [56164442, 56164583], [56166502, 56167618]]	[[56164451, 56164583], [56166502, 56166640]]

Promoter

Chrom	Start	End	Description
chr17	56160768	56160786	CAGE_peak_1_at_DYNLL2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I058327	58327280	58348034	2.63	[{'connected_gene': 'TSPOAP1', 'score': 565.91}, {'connected_gene': 'MIR4736', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 52.05}, {'connected_gene': 'MKS1', 'score': 28.81}, {'connected_gene': 'SUPT4H1', 'score': 22.33}, {'connected_gene': 'VEZF1', 'score': 21.83}, {'connected_gene': 'TRIM37', 'score': 15.01}, {'connected_gene': 'DYNLL2', 'score': 5.1}, {'connected_gene': 'TEX14', 'score': 4.62}, {'connected_gene': 'MTMR4', 'score': 3.94}, {'connected_gene': 'MPO', 'score': 3.52}, {'connected_gene': 'RAD51C', 'score': 1.76}, {'connected_gene': 'HSF5', 'score': 1.51}, {'connected_gene': 'OR4D2', 'score': 1.44}, {'connected_gene': 'MIR142', 'score': 0.44}, {'connected_gene': 'ENSG00000265206', 'score': 0.44}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.39}]
chr17	GH17I057660	57660389	57667851	1.52	[{'connected_gene': 'COIL', 'score': 21.5}, {'connected_gene': 'OR4D1', 'score': 9.75}, {'connected_gene': 'MSX2P1', 'score': 9.75}, {'connected_gene': 'MSI2', 'score': 2.14}, {'connected_gene': 'DYNLL2', 'score': 1.92}, {'connected_gene': 'GC17P057670', 'score': 0.44}, {'connected_gene': 'GC17P057653', 'score': 0.39}]
chr17	GH17I057460	57460164	57466909	1.64	[{'connected_gene': 'SRSF1', 'score': 135.83}, {'connected_gene': 'MKS1', 'score': 118.26}, {'connected_gene': 'ENSG00000262298', 'score': 64.86}, {'connected_gene': 'COIL', 'score': 49.2}, {'connected_gene': 'DGKE', 'score': 20.5}, {'connected_gene': 'MSI2', 'score': 10.49}, {'connected_gene': 'VEZF1', 'score': 9.86}, {'connected_gene': 'DYNLL2', 'score': 9.8}, {'connected_gene': 'ENSG00000279281', 'score': 0.37}, {'connected_gene': 'LOC101927557', 'score': 0.21}]
chr17	GH17I058032	58032700	58032909	0.38	[{'connected_gene': 'SRSF1', 'score': 12.06}, {'connected_gene': 'DYNLL2', 'score': 11.18}, {'connected_gene': 'LOC105371840', 'score': 0.31}, {'connected_gene': 'PIR35824', 'score': 0.31}, {'connected_gene': 'GC17M057928', 'score': 0.11}]
chr17	GH17I058387	58387440	58388989	1.22	[{'connected_gene': 'MKS1', 'score': 25.07}, {'connected_gene': 'SRSF1', 'score': 16.03}, {'connected_gene': 'RNF43', 'score': 11.85}, {'connected_gene': 'SUPT4H1', 'score': 11.19}, {'connected_gene': 'SKA2', 'score': 11.11}, {'connected_gene': 'HSF5', 'score': 10.99}, {'connected_gene': 'PPM1E', 'score': 10.76}, {'connected_gene': 'LPO', 'score': 10.4}, {'connected_gene': 'DYNLL2', 'score': 9.83}, {'connected_gene': 'TRIM37', 'score': 9.41}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.21}]
chr17	GH17I058522	58522651	58522790	0.57	[{'connected_gene': 'SEPT4', 'score': 7.87}, {'connected_gene': 'OR4D2', 'score': 4.28}, {'connected_gene': 'DYNLL2', 'score': 1.43}, {'connected_gene': 'SEPT4-AS1', 'score': 0.77}, {'connected_gene': 'GC17M058529', 'score': 0.44}]
chr17	GH17I058510	58510279	58510383	0.62	[{'connected_gene': 'SEPT4', 'score': 11.71}, {'connected_gene': 'HSF5', 'score': 11.68}, {'connected_gene': 'C17orf47', 'score': 10.5}, {'connected_gene': 'SUPT4H1', 'score': 9.73}, {'connected_gene': 'MTMR4', 'score': 4.62}, {'connected_gene': 'DYNLL2', 'score': 2.23}, {'connected_gene': 'PPM1E', 'score': 2.02}, {'connected_gene': 'MKS1', 'score': 1.14}, {'connected_gene': 'PIR59993', 'score': 0.37}]
chr17	GH17I057547	57547599	57558812	1.71	[{'connected_gene': 'RNF126P1', 'score': 5.17}, {'connected_gene': 'DYNLL2', 'score': 4.3}, {'connected_gene': 'MSI2', 'score': 2.41}, {'connected_gene': 'ENSG00000280028', 'score': 0.34}, {'connected_gene': 'LOC101927539', 'score': 0.22}]
chr17	GH17I057657	57657387	57657502	0.42	[{'connected_gene': 'DYNLL2', 'score': 1.99}, {'connected_gene': 'GC17P057653', 'score': 0.77}, {'connected_gene': 'GC17P057670', 'score': 0.39}, {'connected_gene': 'MSI2', 'score': 0.05}]
chr17	GH17I057834	57834500	57834649	0.89	[{'connected_gene': 'LOC105371839', 'score': 550.77}, {'connected_gene': 'ENSG00000265542', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 26.05}, {'connected_gene': 'ENSG00000262298', 'score': 13.94}, {'connected_gene': 'CCDC182', 'score': 11.08}, {'connected_gene': 'MKS1', 'score': 10.96}, {'connected_gene': 'DYNLL2', 'score': 10.3}, {'connected_gene': 'AKAP1', 'score': 10.24}, {'connected_gene': 'CUEDC1', 'score': 10.0}, {'connected_gene': 'OR4D1', 'score': 9.77}, {'connected_gene': 'MSX2P1', 'score': 9.77}, {'connected_gene': 'GC17M057806', 'score': 0.34}]
chr17	GH17I057835	57835975	57838284	0.31	[{'connected_gene': 'LOC105371839', 'score': 550.77}, {'connected_gene': 'CCDC182', 'score': 11.08}, {'connected_gene': 'CUEDC1', 'score': 10.66}, {'connected_gene': 'SRSF1', 'score': 10.51}, {'connected_gene': 'DYNLL2', 'score': 10.3}, {'connected_gene': 'AKAP1', 'score': 10.24}, {'connected_gene': 'OR4D1', 'score': 9.77}, {'connected_gene': 'MSX2P1', 'score': 9.77}, {'connected_gene': 'MRPS23', 'score': 0.39}]
chr17	GH17I057836	57835440	57835589	0.85	[{'connected_gene': 'LOC105371839', 'score': 550.77}, {'connected_gene': 'ENSG00000265542', 'score': 550.77}, {'connected_gene': 'CCDC182', 'score': 11.08}, {'connected_gene': 'DYNLL2', 'score': 10.3}, {'connected_gene': 'AKAP1', 'score': 10.24}, {'connected_gene': 'SRSF1', 'score': 10.07}, {'connected_gene': 'CUEDC1', 'score': 10.0}, {'connected_gene': 'OR4D1', 'score': 9.77}, {'connected_gene': 'MSX2P1', 'score': 9.77}, {'connected_gene': 'MRPS23', 'score': 0.39}]
chr17	GH17I058081	58081553	58085752	2.26	[{'connected_gene': 'LOC101927666', 'score': 558.81}, {'connected_gene': 'DYNLL2', 'score': 557.38}, {'connected_gene': 'ENSG00000264112', 'score': 12.08}, {'connected_gene': 'SRSF1', 'score': 10.15}, {'connected_gene': 'VEZF1', 'score': 1.62}, {'connected_gene': 'MTMR4', 'score': 1.46}, {'connected_gene': 'GC17P058094', 'score': 0.44}, {'connected_gene': 'GC17M057928', 'score': 0.15}]
chr17	GH17I057832	57832134	57834399	1.34	[{'connected_gene': 'ENSG00000265542', 'score': 556.28}, {'connected_gene': 'SRSF1', 'score': 26.05}, {'connected_gene': 'ENSG00000262298', 'score': 13.94}, {'connected_gene': 'CCDC182', 'score': 11.08}, {'connected_gene': 'MKS1', 'score': 10.96}, {'connected_gene': 'DYNLL2', 'score': 10.3}, {'connected_gene': 'AKAP1', 'score': 10.24}, {'connected_gene': 'CUEDC1', 'score': 10.0}, {'connected_gene': 'OR4D1', 'score': 9.77}, {'connected_gene': 'MSX2P1', 'score': 9.77}, {'connected_gene': 'LOC105371839', 'score': 0.77}, {'connected_gene': 'GC17M057806', 'score': 0.37}]
chr17	GH17I057335	57335026	57336645	0.46	[{'connected_gene': 'GC17M057316', 'score': 550.77}, {'connected_gene': 'MSI2', 'score': 11.78}, {'connected_gene': 'DYNLL2', 'score': 4.33}, {'connected_gene': 'GC17P057280', 'score': 0.22}]