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
ENST00000297145	[[112459201, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112579645, 112579971]]	[[112461798, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112579645, 112579805]]
ENST00000432572	[[112461691, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112575241, 112575319], [112579645, 112579673]]	[[112461798, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112575241, 112575319], [112579645, 112579673]]
ENST00000485446	[[112462407, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112579274, 112579353]]	None
NM_152556	[[112459201, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112579645, 112579932]]	[[112461798, 112462428], [112472615, 112472730], [112535623, 112535794], [112555360, 112555502], [112579645, 112579805]]

Promoter

Chrom	Start	End	Description
chr7	112579802	112579825	CAGE_peak_3_at_C7orf60_5end
chr7	112579828	112579854	CAGE_peak_2_at_C7orf60_5end
chr7	112579869	112579947	CAGE_peak_1_at_C7orf60_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I112930	112930601	112931201	0.74	[{'connected_gene': 'TMEM168', 'score': 10.71}, {'connected_gene': 'BMT2', 'score': 0.44}]
chr7	GH07I112869	112869266	112869455	0.74	[{'connected_gene': 'TMEM168', 'score': 10.88}, {'connected_gene': 'BMT2', 'score': 0.19}]
chr7	GH07I112898	112898600	112898975	1.09	[{'connected_gene': 'TMEM168', 'score': 11.23}, {'connected_gene': 'BMT2', 'score': 0.26}]
chr7	GH07I112877	112877766	112877973	0.44	[{'connected_gene': 'IFRD1', 'score': 3.8}, {'connected_gene': 'BMT2', 'score': 1.82}, {'connected_gene': 'TMEM168', 'score': 0.17}]
chr7	GH07I112881	112881998	112883255	0.46	[{'connected_gene': 'BMT2', 'score': 0.22}, {'connected_gene': 'TMEM168', 'score': 0.16}]
chr7	GH07I112938	112938051	112940987	2.03	[{'connected_gene': 'BMT2', 'score': 550.77}, {'connected_gene': 'SMIM30', 'score': 10.66}, {'connected_gene': 'TMEM168', 'score': 10.54}]
chr7	GH07I112942	112942631	112943665	0.2	[{'connected_gene': 'BMT2', 'score': 0.77}, {'connected_gene': 'HRAT17', 'score': 0.23}]
chr7	GH07I112959	112959359	112959566	0.22	[{'connected_gene': 'BMT2', 'score': 5.6}, {'connected_gene': 'HRAT17', 'score': 0.28}]
chr7	GH07I112021	112021771	112022819	0.52	[{'connected_gene': 'BMT2', 'score': 5.09}, {'connected_gene': 'GC07P112024', 'score': 0.77}, {'connected_gene': 'RPL7AP42', 'score': 0.23}, {'connected_gene': 'DOCK4', 'score': 0.09}]
chr7	GH07I112985	112985118	112987622	0.96	[{'connected_gene': 'HRAT17', 'score': 5.61}, {'connected_gene': 'SMIM30', 'score': 4.32}, {'connected_gene': 'BMT2', 'score': 0.25}]
chr7	GH07I112994	112994057	112997163	0.83	[{'connected_gene': 'HRAT17', 'score': 550.77}, {'connected_gene': 'ENSG00000225457', 'score': 6.22}, {'connected_gene': 'BMT2', 'score': 0.22}]
chr7	GH07I112876	112876391	112877511	0.59	[{'connected_gene': 'LOC101928012', 'score': 5.46}, {'connected_gene': 'BMT2', 'score': 0.21}, {'connected_gene': 'TMEM168', 'score': 0.17}]
chr7	GH07I112988	112988674	112992715	0.38	[{'connected_gene': 'ENSG00000225457', 'score': 6.22}, {'connected_gene': 'HRAT17', 'score': 0.77}, {'connected_gene': 'BMT2', 'score': 0.23}]