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
ENST00000599142	[[7933604, 7934430], [7934600, 7936373]]	[[7933918, 7934430], [7934600, 7936373]]
ENST00000539422	[[7933604, 7934430], [7934600, 7937642], [7937734, 7937847], [7938082, 7938188], [7938306, 7938581], [7939170, 7939326]]	[[7933918, 7934430], [7934600, 7937642], [7937734, 7937847], [7938082, 7938188], [7938306, 7938574]]
ENST00000593356	[[7933630, 7934430], [7934600, 7934794], [7937181, 7937642], [7937734, 7937847], [7938082, 7938185], [7938304, 7938581], [7939170, 7939326]]	None
NM_001190467	[[7933604, 7934430], [7934600, 7937642], [7937734, 7937847], [7938082, 7938185], [7938304, 7938306], [7938308, 7938581], [7939170, 7939326]]	[[7933918, 7934430], [7934600, 7937642], [7937734, 7937847], [7938082, 7938185], [7938304, 7938306], [7938308, 7938574]]
NR_104345	[[7933604, 7934430], [7934600, 7934803], [7937190, 7937372], [7937734, 7937847], [7938082, 7938185], [7938304, 7938581], [7939170, 7939326]]	None

Promoter

Chrom	Start	End	Description
chr19	7936043	7936066	CAGE_peak_5_at_FLJ22184_5end
chr19	7936268	7936297	CAGE_peak_4_at_FLJ22184_5end
chr19	7936301	7936340	CAGE_peak_3_at_FLJ22184_5end
chr19	7936344	7936357	CAGE_peak_14_at_FLJ22184_5end
chr19	7936435	7936450	CAGE_peak_13_at_FLJ22184_5end
chr19	7936536	7936552	CAGE_peak_15_at_FLJ22184_5end
chr19	7939200	7939218	CAGE_peak_6_at_FLJ22184_5end
chr19	7939247	7939286	CAGE_peak_1_at_FLJ22184_5end
chr19	7939296	7939308	CAGE_peak_8_at_FLJ22184_5end
chr19	7939319	7939358	CAGE_peak_2_at_FLJ22184_5end
chr19	7939546	7939559	CAGE_peak_11_at_FLJ22184_5end
chr19	7939595	7939611	CAGE_peak_10_at_FLJ22184_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I007837	7837440	7839017	0.92	[{'connected_gene': 'PRR36', 'score': 11.66}, {'connected_gene': 'LRRC8E', 'score': 7.63}, {'connected_gene': 'EVI5L', 'score': 7.49}, {'connected_gene': 'ENSG00000268120', 'score': 0.29}]
chr19	GH19I007896	7896937	7898028	0.8	[{'connected_gene': 'PRR36', 'score': 12.88}, {'connected_gene': 'CTXN1', 'score': 12.32}, {'connected_gene': 'LRRC8E', 'score': 9.22}, {'connected_gene': 'GC19M007891', 'score': 0.77}, {'connected_gene': 'GC19M007902', 'score': 0.44}]
chr19	GH19I007874	7874146	7875143	2.04	[{'connected_gene': 'PRR36', 'score': 562.15}, {'connected_gene': 'LYPLA2P2', 'score': 0.44}]
chr19	GH19I007852	7852819	7854107	1.41	[{'connected_gene': 'PRR36', 'score': 13.02}, {'connected_gene': 'RNA5SP463', 'score': 12.3}, {'connected_gene': 'LRRC8E', 'score': 12.28}, {'connected_gene': 'EVI5L', 'score': 11.87}, {'connected_gene': 'ENSG00000268120', 'score': 0.37}]
chr19	GH19I007832	7832404	7834958	1.24	[{'connected_gene': 'LRRC8E', 'score': 10.0}, {'connected_gene': 'PRR36', 'score': 7.29}, {'connected_gene': 'EVI5L', 'score': 6.66}, {'connected_gene': 'ENSG00000268120', 'score': 0.28}]
chr19	GH19I007902	7902532	7905529	2.06	[{'connected_gene': 'MAP2K7', 'score': 561.5}, {'connected_gene': 'GC19M007902', 'score': 550.77}, {'connected_gene': 'ENSG00000214248', 'score': 550.77}, {'connected_gene': 'GC19M007901', 'score': 550.77}, {'connected_gene': 'ZNF558', 'score': 34.01}, {'connected_gene': 'HNRNPM', 'score': 30.76}, {'connected_gene': 'ELAVL1', 'score': 26.77}, {'connected_gene': 'XAB2', 'score': 21.17}, {'connected_gene': 'ZNF414', 'score': 11.9}, {'connected_gene': 'ENSG00000269300', 'score': 11.6}, {'connected_gene': 'ZNF557', 'score': 11.42}, {'connected_gene': 'CD209', 'score': 10.2}, {'connected_gene': 'LRRC8E', 'score': 8.92}, {'connected_gene': 'ENSG00000269139', 'score': 5.51}, {'connected_gene': 'PRR36', 'score': 5.14}, {'connected_gene': 'CD320', 'score': 4.71}, {'connected_gene': 'ENSG00000268149', 'score': 0.44}]
chr19	GH19I007860	7860318	7864594	1.07	[{'connected_gene': 'CLEC4G', 'score': 11.63}, {'connected_gene': 'EVI5L', 'score': 10.94}, {'connected_gene': 'LRRC8E', 'score': 9.55}, {'connected_gene': 'PRR36', 'score': 9.53}, {'connected_gene': 'ENSG00000268120', 'score': 0.44}]
chr19	GH19I007799	7799201	7800600	0.99	[{'connected_gene': 'TRAPPC5', 'score': 12.32}, {'connected_gene': 'MCEMP1', 'score': 12.32}, {'connected_gene': 'CLEC4G', 'score': 12.07}, {'connected_gene': 'RPL21P129', 'score': 11.83}, {'connected_gene': 'CD209', 'score': 11.81}, {'connected_gene': 'XAB2', 'score': 11.47}, {'connected_gene': 'PET100', 'score': 11.47}, {'connected_gene': 'LRRC8E', 'score': 9.94}, {'connected_gene': 'PRR36', 'score': 5.59}, {'connected_gene': 'CLEC4GP1', 'score': 0.39}, {'connected_gene': 'EXOSC3P2', 'score': 0.39}]
chr19	GH19I007866	7866302	7867614	0.52	[{'connected_gene': 'EVI5L', 'score': 12.36}, {'connected_gene': 'PRR36', 'score': 5.53}, {'connected_gene': 'ENSG00000268120', 'score': 0.77}]
chr19	GH19I007857	7857499	7858845	1.17	[{'connected_gene': 'EVI5L', 'score': 5.36}, {'connected_gene': 'PRR36', 'score': 4.84}, {'connected_gene': 'ENSG00000268120', 'score': 0.39}]
chr19	GH19I007829	7829167	7831330	2.2	[{'connected_gene': 'EVI5L', 'score': 550.77}, {'connected_gene': 'ELAVL1', 'score': 25.27}, {'connected_gene': 'HNRNPM', 'score': 22.17}, {'connected_gene': 'ZNF557', 'score': 12.97}, {'connected_gene': 'XAB2', 'score': 11.97}, {'connected_gene': 'PRR36', 'score': 10.66}, {'connected_gene': 'LRRC8E', 'score': 9.99}, {'connected_gene': 'ENSG00000268120', 'score': 0.26}]
chr19	GH19I007868	7868315	7872724	1.71	[{'connected_gene': 'ENSG00000268120', 'score': 550.77}, {'connected_gene': 'PRR36', 'score': 10.98}, {'connected_gene': 'HNRNPM', 'score': 10.28}, {'connected_gene': 'EVI5L', 'score': 9.73}, {'connected_gene': 'TIMM44', 'score': 4.95}]