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
ENST00000339382	[[30853320, 30854213], [30889434, 30891231]]	[[30854108, 30854213], [30889434, 30890298]]
ENST00000475541	[[30888356, 30891231]]	[[30889254, 30890298]]
ENST00000523392	[[30889807, 30890304], [30890593, 30890710]]	[[30889807, 30890298]]
NM_001323312	[[30853317, 30854213], [30889434, 30890304], [30890593, 30890710]]	[[30854108, 30854213], [30889434, 30890298]]
NM_001015508	[[30853317, 30854213], [30889434, 30891231]]	[[30854108, 30854213], [30889434, 30890298]]
NM_013357	[[30888356, 30890317]]	[[30889254, 30890298]]
NM_001323311	[[30888356, 30890304], [30890593, 30890710]]	[[30889254, 30890298]]

Promoter

Chrom	Start	End	Description
chr8	30890810	30890880	CAGE_peak_1_at_PURG_5end
chr8	30891078	30891128	CAGE_peak_2_at_PURG_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I031032	31032800	31035767	2.33	[{'connected_gene': 'WRN', 'score': 566.21}, {'connected_gene': 'PURG', 'score': 555.36}, {'connected_gene': 'GTF2E2', 'score': 23.84}, {'connected_gene': 'RPS15AP24', 'score': 12.17}, {'connected_gene': 'KCTD9P6', 'score': 11.52}, {'connected_gene': 'UBXN8', 'score': 1.25}, {'connected_gene': 'SUMO2P16', 'score': 0.15}]
chr8	GH08I031106	31106199	31108134	0.84	[{'connected_gene': 'WRN', 'score': 14.23}, {'connected_gene': 'SUMO2P16', 'score': 0.34}, {'connected_gene': 'PURG', 'score': 0.19}]
chr8	GH08I031049	31049509	31049763	0.42	[{'connected_gene': 'TEX15', 'score': 1.86}, {'connected_gene': 'PURG', 'score': 1.57}, {'connected_gene': 'WRN', 'score': 0.37}, {'connected_gene': 'SUMO2P16', 'score': 0.18}]
chr8	GH08I031076	31075298	31075967	0.59	[{'connected_gene': 'PPP2CB', 'score': 4.12}, {'connected_gene': 'PURG', 'score': 0.26}, {'connected_gene': 'WRN', 'score': 0.26}, {'connected_gene': 'SUMO2P16', 'score': 0.22}]
chr8	GH08I030581	30581953	30583382	0.87	[{'connected_gene': 'HSPA8P11', 'score': 13.7}, {'connected_gene': 'PURG', 'score': 12.35}, {'connected_gene': 'GTF2E2', 'score': 6.43}, {'connected_gene': 'SMIM18', 'score': 5.01}, {'connected_gene': 'ENSG00000253112', 'score': 0.39}, {'connected_gene': 'PIR39743', 'score': 0.37}]
chr8	GH08I031075	31075125	31075274	0.46	[{'connected_gene': 'PURG', 'score': 0.26}, {'connected_gene': 'WRN', 'score': 0.26}, {'connected_gene': 'SUMO2P16', 'score': 0.22}]
chr8	GH08I030075	30075983	30077546	1.3	[{'connected_gene': 'LEPROTL1', 'score': 40.67}, {'connected_gene': 'SARAF', 'score': 28.52}, {'connected_gene': 'HSPA8P11', 'score': 13.75}, {'connected_gene': 'PURG', 'score': 12.33}, {'connected_gene': 'MBOAT4', 'score': 5.21}, {'connected_gene': 'ENSG00000272256', 'score': 0.44}, {'connected_gene': 'RNU6-1218P', 'score': 0.29}]
chr8	GH08I031087	31087317	31088044	0.2	[{'connected_gene': 'SUMO2P16', 'score': 0.26}, {'connected_gene': 'PURG', 'score': 0.23}, {'connected_gene': 'WRN', 'score': 0.23}]
chr8	GH08I030403	30403024	30409081	1.02	[{'connected_gene': 'RBPMS-AS1', 'score': 13.59}, {'connected_gene': 'PURG', 'score': 5.02}, {'connected_gene': 'GSR', 'score': 4.81}, {'connected_gene': 'RBPMS', 'score': 0.34}, {'connected_gene': 'PIR31328', 'score': 0.11}]