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
ENST00000240316	[[55015547, 55016515], [55019395, 55019484], [55023802, 55023872], [55026747, 55026795], [55027041, 55027128], [55027249, 55028357], [55038135, 55038415]]	[[55016431, 55016515], [55019395, 55019484], [55023802, 55023872], [55026747, 55026795], [55027041, 55027128], [55027249, 55028357], [55038135, 55038380]]
ENST00000573008	[[55028273, 55028357], [55028782, 55029075], [55038048, 55038137]]	[[55028273, 55028357], [55028782, 55028811]]
NM_004645	[[55015559, 55016515], [55019395, 55019484], [55023802, 55023872], [55026747, 55026795], [55027041, 55027128], [55027249, 55028357], [55038135, 55038411]]	[[55016431, 55016515], [55019395, 55019484], [55023802, 55023872], [55026747, 55026795], [55027041, 55027128], [55027249, 55028357], [55038135, 55038380]]

Promoter

Chrom	Start	End	Description
chr17	55038375	55038421	CAGE_peak_1_at_COIL_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I056592	56592600	56599054	2.01	[{'connected_gene': 'NOG', 'score': 550.77}, {'connected_gene': 'COIL', 'score': 21.53}, {'connected_gene': 'ENSG00000262298', 'score': 14.05}, {'connected_gene': 'DGKE', 'score': 13.43}, {'connected_gene': 'MSI2', 'score': 10.44}, {'connected_gene': 'GC17M056599', 'score': 0.77}]
chr17	GH17I057420	57420100	57427188	1.39	[{'connected_gene': 'DGKE', 'score': 24.74}, {'connected_gene': 'COIL', 'score': 14.12}, {'connected_gene': 'MKS1', 'score': 13.65}, {'connected_gene': 'SRSF1', 'score': 11.77}, {'connected_gene': 'ENSG00000262298', 'score': 10.15}, {'connected_gene': 'GC17M057411', 'score': 0.39}, {'connected_gene': 'ENSG00000279281', 'score': 0.34}, {'connected_gene': 'MSI2', 'score': 0.1}]
chr17	GH17I057467	57467103	57468300	0.74	[{'connected_gene': 'COIL', 'score': 17.73}, {'connected_gene': 'SRSF1', 'score': 11.66}, {'connected_gene': 'ENSG00000279281', 'score': 0.37}, {'connected_gene': 'LOC101927557', 'score': 0.22}, {'connected_gene': 'MSI2', 'score': 0.08}]
chr17	GH17I057378	57378400	57380978	1.35	[{'connected_gene': 'COIL', 'score': 14.12}, {'connected_gene': 'MKS1', 'score': 13.65}, {'connected_gene': 'SRSF1', 'score': 11.77}, {'connected_gene': 'ENSG00000262298', 'score': 10.15}, {'connected_gene': 'GC17P057360', 'score': 0.34}, {'connected_gene': 'GC17M057411', 'score': 0.29}, {'connected_gene': 'MSI2', 'score': 0.13}]
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	GH17I057648	57648675	57651729	1.11	[{'connected_gene': 'SRSF1', 'score': 53.98}, {'connected_gene': 'MKS1', 'score': 46.65}, {'connected_gene': 'ENSG00000262298', 'score': 31.75}, {'connected_gene': 'COIL', 'score': 27.63}, {'connected_gene': 'TSPOAP1', 'score': 13.19}, {'connected_gene': 'DGKE', 'score': 12.93}, {'connected_gene': 'TRIM25', 'score': 11.86}, {'connected_gene': 'RNU7-134P', 'score': 11.47}, {'connected_gene': 'VEZF1', 'score': 9.89}, {'connected_gene': 'GC17P057653', 'score': 0.77}, {'connected_gene': 'GC17P057625', 'score': 0.34}, {'connected_gene': 'MSI2', 'score': 0.05}]
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	GH17I057877	57877906	57883355	1.33	[{'connected_gene': 'SRSF1', 'score': 50.26}, {'connected_gene': 'MKS1', 'score': 49.26}, {'connected_gene': 'COIL', 'score': 25.16}, {'connected_gene': 'ENSG00000262298', 'score': 22.55}, {'connected_gene': 'CUEDC1', 'score': 18.11}, {'connected_gene': 'VEZF1', 'score': 13.77}, {'connected_gene': 'MRPS23', 'score': 12.01}, {'connected_gene': 'RAD51C', 'score': 10.68}, {'connected_gene': 'GC17P057856', 'score': 0.34}, {'connected_gene': 'ENSG00000264914', 'score': 0.29}]
chr17	GH17I057503	57503909	57509504	1.08	[{'connected_gene': 'MKS1', 'score': 12.36}, {'connected_gene': 'SRSF1', 'score': 11.79}, {'connected_gene': 'COIL', 'score': 10.31}, {'connected_gene': 'LOC101927557', 'score': 0.37}, {'connected_gene': 'ENSG00000279281', 'score': 0.22}, {'connected_gene': 'MSI2', 'score': 0.07}]
chr17	GH17I057577	57577102	57578954	1.4	[{'connected_gene': 'MKS1', 'score': 12.36}, {'connected_gene': 'SRSF1', 'score': 11.8}, {'connected_gene': 'COIL', 'score': 10.31}, {'connected_gene': 'LOC101927539', 'score': 0.29}, {'connected_gene': 'ENSG00000280028', 'score': 0.25}, {'connected_gene': 'MSI2', 'score': 0.05}]
chr17	GH17I057848	57848693	57854714	2.34	[{'connected_gene': 'MRPS23', 'score': 555.5}, {'connected_gene': 'PIR35014', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 51.26}, {'connected_gene': 'MKS1', 'score': 39.93}, {'connected_gene': 'COIL', 'score': 18.36}, {'connected_gene': 'ENSG00000262298', 'score': 13.94}, {'connected_gene': 'VEZF1', 'score': 11.67}, {'connected_gene': 'CUEDC1', 'score': 10.32}, {'connected_gene': 'SUPT4H1', 'score': 4.75}, {'connected_gene': 'GC17P057856', 'score': 0.77}]
chr17	GH17I057084	57084201	57089709	2.51	[{'connected_gene': 'ENSG00000263004', 'score': 576.48}, {'connected_gene': 'AKAP1', 'score': 559.37}, {'connected_gene': 'SRSF1', 'score': 23.18}, {'connected_gene': 'COIL', 'score': 21.6}, {'connected_gene': 'ENSG00000262298', 'score': 12.76}, {'connected_gene': 'DGKE', 'score': 11.89}, {'connected_gene': 'VEZF1', 'score': 10.2}, {'connected_gene': 'SCPEP1', 'score': 10.01}, {'connected_gene': 'ENSG00000263089', 'score': 0.44}]
chr17	GH17I056960	56960200	56961669	2.09	[{'connected_gene': 'GC17M056963', 'score': 550.77}, {'connected_gene': 'PIR54051', 'score': 550.77}, {'connected_gene': 'PIR58151', 'score': 550.77}, {'connected_gene': 'COIL', 'score': 550.77}, {'connected_gene': 'LOC105371836', 'score': 550.77}, {'connected_gene': 'SCPEP1', 'score': 24.84}, {'connected_gene': 'LOC100419768', 'score': 0.44}]
chr17	GH17I056939	56939980	56940169	0.74	[{'connected_gene': 'ENSG00000262298', 'score': 550.77}, {'connected_gene': 'C17orf67', 'score': 11.47}, {'connected_gene': 'SCPEP1', 'score': 10.96}, {'connected_gene': 'LOC100419768', 'score': 0.39}, {'connected_gene': 'COIL', 'score': 0.34}]