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
ENST00000597765	[[18485540, 18485810], [18496726, 18497018]]	[[18496999, 18497018]]
ENST00000604609	[[18485561, 18485813], [18493159, 18493257], [18496726, 18496882]]	None
ENST00000595973	[[18492979, 18493257], [18496726, 18497276], [18499095, 18499157]]	[[18496999, 18497276], [18499095, 18499157]]
ENST00000252809	[[18496967, 18497276], [18499095, 18499986]]	[[18496999, 18497276], [18499095, 18499745]]
ENST00000594925	[[18497729, 18497824], [18499095, 18499294]]	None
NM_004864	[[18496769, 18497276], [18499095, 18499987]]	[[18496999, 18497276], [18499095, 18499745]]

Promoter

Chrom	Start	End	Description
chr19	18496957	18496977	CAGE_peak_1_at_GDF15_5end
chr19	18499119	18499128	CAGE_peak_9_at_GDF15_5end
chr19	18499150	18499175	CAGE_peak_3_at_GDF15_5end
chr19	18499210	18499232	CAGE_peak_4_at_GDF15_5end
chr19	18499287	18499309	CAGE_peak_2_at_GDF15_5end
chr19	18499415	18499426	CAGE_peak_5_at_GDF15_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I018357	18357271	18358062	0.92	[{'connected_gene': 'GDF15', 'score': 0.37}, {'connected_gene': 'PGPEP1', 'score': 0.37}]
chr19	GH19I018368	18368031	18370247	1.08	[{'connected_gene': 'GDF15', 'score': 8.77}, {'connected_gene': 'KCNN1', 'score': 4.86}, {'connected_gene': 'PGPEP1', 'score': 0.31}]
chr19	GH19I018372	18372122	18390078	2.91	[{'connected_gene': 'GDF15', 'score': 562.27}, {'connected_gene': 'NR2C2AP', 'score': 82.56}, {'connected_gene': 'ENSG00000268030', 'score': 76.81}, {'connected_gene': 'UPF1', 'score': 39.45}, {'connected_gene': 'ENSG00000268938', 'score': 34.8}, {'connected_gene': 'MEF2B', 'score': 33.09}, {'connected_gene': 'COLGALT1', 'score': 30.71}, {'connected_gene': 'SUGP2', 'score': 28.19}, {'connected_gene': 'MVB12A', 'score': 24.22}, {'connected_gene': 'IQCN', 'score': 23.33}, {'connected_gene': 'ENSG00000269191', 'score': 20.26}, {'connected_gene': 'TMEM161A', 'score': 18.98}, {'connected_gene': 'KXD1', 'score': 18.9}, {'connected_gene': 'IFI30', 'score': 17.63}, {'connected_gene': 'PGLS', 'score': 11.89}, {'connected_gene': 'DDX49', 'score': 10.69}, {'connected_gene': 'MAU2', 'score': 10.26}, {'connected_gene': 'RFXANK', 'score': 9.99}, {'connected_gene': 'ENSG00000269481', 'score': 9.96}, {'connected_gene': 'PGPEP1', 'score': 6.93}, {'connected_gene': 'SSBP4', 'score': 5.2}, {'connected_gene': 'KCNN1', 'score': 5.05}, {'connected_gene': 'LRRC25', 'score': 3.32}, {'connected_gene': 'ARRDC2', 'score': 2.44}, {'connected_gene': 'ELL', 'score': 1.93}, {'connected_gene': 'JUND', 'score': 1.44}, {'connected_gene': 'PDE4C', 'score': 1.39}, {'connected_gene': 'MIR3189', 'score': 0.44}]
chr19	GH19I018346	18346024	18346880	0.56	[{'connected_gene': 'PGPEP1', 'score': 42.9}, {'connected_gene': 'GDF15', 'score': 0.31}]
chr19	GH19I018344	18343822	18344979	0.2	[{'connected_gene': 'PGPEP1', 'score': 42.0}, {'connected_gene': 'GDF15', 'score': 0.29}]
chr19	GH19I018349	18349651	18349800	0.71	[{'connected_gene': 'PGPEP1', 'score': 0.44}, {'connected_gene': 'GDF15', 'score': 0.31}]
chr19	GH19I018343	18343359	18343735	0.43	[{'connected_gene': 'LSM4', 'score': 8.15}, {'connected_gene': 'PGPEP1', 'score': 0.77}, {'connected_gene': 'GDF15', 'score': 0.29}]
chr19	GH19I018736	18736529	18744213	1.41	[{'connected_gene': 'COMP', 'score': 7.07}, {'connected_gene': 'CRLF1', 'score': 5.91}, {'connected_gene': 'KXD1', 'score': 4.27}, {'connected_gene': 'GDF1', 'score': 1.56}, {'connected_gene': 'GDF15', 'score': 1.23}, {'connected_gene': 'PIR61287', 'score': 0.44}, {'connected_gene': 'GC19P020256', 'score': 0.37}, {'connected_gene': 'CRTC1', 'score': 0.22}]
chr19	GH19I018361	18361443	18368002	1.52	[{'connected_gene': 'NR2C2AP', 'score': 35.9}, {'connected_gene': 'ENSG00000268030', 'score': 31.1}, {'connected_gene': 'SUGP2', 'score': 13.41}, {'connected_gene': 'COLGALT1', 'score': 12.35}, {'connected_gene': 'TMEM161A', 'score': 10.71}, {'connected_gene': 'UPF1', 'score': 10.41}, {'connected_gene': 'MAU2', 'score': 10.26}, {'connected_gene': 'PGPEP1', 'score': 8.7}, {'connected_gene': 'GDF15', 'score': 0.39}]
chr19	GH19I018392	18392001	18399891	1.93	[{'connected_gene': 'LRRC25', 'score': 564.01}, {'connected_gene': 'IFI30', 'score': 20.87}, {'connected_gene': 'IQCN', 'score': 12.25}, {'connected_gene': 'LSM4', 'score': 11.63}, {'connected_gene': 'PGPEP1', 'score': 8.83}, {'connected_gene': 'GDF15', 'score': 6.96}, {'connected_gene': 'ELL', 'score': 5.95}, {'connected_gene': 'SSBP4', 'score': 5.55}, {'connected_gene': 'KCNN1', 'score': 5.25}, {'connected_gene': 'ARRDC2', 'score': 3.06}, {'connected_gene': 'IL12RB1', 'score': 2.11}, {'connected_gene': 'UBA52', 'score': 1.84}, {'connected_gene': 'UPF1', 'score': 1.4}, {'connected_gene': 'GC19P020281', 'score': 0.77}]
chr19	GH19I018391	18390111	18390320	0.77	[{'connected_gene': 'GC19P020281', 'score': 550.77}, {'connected_gene': 'GDF15', 'score': 6.71}, {'connected_gene': 'PGPEP1', 'score': 4.65}, {'connected_gene': 'MIR3189', 'score': 0.77}]