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
ENST00000533755	[[21492267, 21492503], [21498671, 21499167]]	None
ENST00000534434	[[21498344, 21498463], [21498671, 21499324], [21500050, 21500974]]	None
ENST00000525425	[[21498381, 21498504], [21498671, 21499123]]	None
ENST00000321760	[[21498384, 21498463], [21498671, 21498913], [21499170, 21499324], [21500050, 21500327]]	[[21498740, 21498913], [21499170, 21499324], [21500050, 21500236]]
ENST00000532060	[[21498408, 21498476], [21498671, 21499167]]	None
ENST00000460647	[[21498408, 21498463], [21498671, 21498913], [21499170, 21499441]]	[[21498740, 21498913], [21499170, 21499411]]
ENST00000530140	[[21498429, 21498476], [21498671, 21498913], [21499170, 21499324], [21500050, 21500310]]	[[21498740, 21498913], [21499170, 21499324], [21500050, 21500236]]
ENST00000472458	[[21498429, 21498463], [21498671, 21498913], [21499170, 21499324], [21504349, 21504433]]	[[21498740, 21498913], [21499170, 21499324], [21504349, 21504433]]
ENST00000481535	[[21498755, 21498913], [21499170, 21499324], [21500478, 21500539], [21504349, 21504433]]	[[21498755, 21498913], [21499170, 21499324], [21500478, 21500526]]
ENST00000529496	[[21498761, 21499324], [21504349, 21504433]]	None
ENST00000495665	[[21498765, 21498913], [21499170, 21499324], [21503952, 21504251], [21504349, 21504435]]	[[21498765, 21498913], [21499170, 21499324], [21503952, 21503982]]
ENST00000555751	[[21499181, 21499324], [21500478, 21500539], [21503952, 21504236]]	[[21499181, 21499324], [21500478, 21500526]]
NM_173846	[[21498344, 21498463], [21498671, 21498913], [21499170, 21499324], [21500050, 21500334]]	[[21498740, 21498913], [21499170, 21499324], [21500050, 21500236]]

Promoter

Chrom	Start	End	Description
chr14	21498349	21498358	CAGE_peak_3_at_TPPP2_5end
chr14	21498360	21498417	CAGE_peak_1_at_TPPP2_5end
chr14	21498666	21498687	CAGE_peak_5_at_TPPP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I021068	21068537	21073552	2.44	[{'connected_gene': 'ARHGEF40', 'score': 579.42}, {'connected_gene': 'NDRG2', 'score': 550.77}, {'connected_gene': 'TMEM253', 'score': 12.12}, {'connected_gene': 'ZNF219', 'score': 12.1}, {'connected_gene': 'RNASE7', 'score': 10.89}, {'connected_gene': 'TPPP2', 'score': 10.66}, {'connected_gene': 'RNASE13', 'score': 10.38}, {'connected_gene': 'ENSG00000255472', 'score': 10.38}, {'connected_gene': 'RNASE6', 'score': 2.28}, {'connected_gene': 'TOX4', 'score': 1.78}, {'connected_gene': 'HNRNPC', 'score': 1.69}, {'connected_gene': 'PIR44581', 'score': 0.34}]
chr14	GH14I021191	21191401	21192800	1.01	[{'connected_gene': 'OR5AU1', 'score': 10.84}, {'connected_gene': 'ZNF219', 'score': 10.39}, {'connected_gene': 'TMEM253', 'score': 10.38}, {'connected_gene': 'RNASE13', 'score': 9.9}, {'connected_gene': 'ENSG00000255472', 'score': 9.9}, {'connected_gene': 'TPPP2', 'score': 9.9}, {'connected_gene': 'LOC100129923', 'score': 0.44}, {'connected_gene': 'LINC00641', 'score': 0.39}]
chr14	GH14I020997	20997235	21000135	1.37	[{'connected_gene': 'SLC39A2', 'score': 565.85}, {'connected_gene': 'LOC101929718', 'score': 550.77}, {'connected_gene': 'TPPP2', 'score': 11.17}, {'connected_gene': 'ENSG00000255472', 'score': 10.85}, {'connected_gene': 'RNASE13', 'score': 10.84}, {'connected_gene': 'ZNF219', 'score': 10.62}, {'connected_gene': 'TMEM253', 'score': 10.59}, {'connected_gene': 'RNASE7', 'score': 10.29}, {'connected_gene': 'METTL17', 'score': 0.44}]
chr14	GH14I021030	21030201	21030260	0.61	[{'connected_gene': 'TPPP2', 'score': 550.44}, {'connected_gene': 'ENSG00000255472', 'score': 0.77}, {'connected_gene': 'ENSG00000258604', 'score': 0.44}, {'connected_gene': 'NDRG2', 'score': 0.26}]
chr14	GH14I021034	21034781	21034840	0.5	[{'connected_gene': 'ENSG00000255472', 'score': 550.77}, {'connected_gene': 'RNASE13', 'score': 550.77}, {'connected_gene': 'RNASE7', 'score': 0.44}, {'connected_gene': 'TPPP2', 'score': 0.39}, {'connected_gene': 'NDRG2', 'score': 0.28}]
chr14	GH14I021021	21021994	21028051	2.17	[{'connected_gene': 'ENSG00000258604', 'score': 559.11}, {'connected_gene': 'TPPP2', 'score': 555.38}, {'connected_gene': 'MIR6717', 'score': 550.77}, {'connected_gene': 'NDRG2', 'score': 550.25}, {'connected_gene': 'TRAV13-1', 'score': 6.02}, {'connected_gene': 'ENSG00000255472', 'score': 0.44}]
chr14	GH14I020705	20705851	20708411	0.77	[{'connected_gene': 'ENSG00000258451', 'score': 550.77}, {'connected_gene': 'EDDM3A', 'score': 11.7}, {'connected_gene': 'ANG', 'score': 11.32}, {'connected_gene': 'EDDM3B', 'score': 11.0}, {'connected_gene': 'RNASE1', 'score': 10.96}, {'connected_gene': 'METTL17', 'score': 10.95}, {'connected_gene': 'ZNF219', 'score': 9.79}, {'connected_gene': 'TPPP2', 'score': 9.59}, {'connected_gene': 'RNASE13', 'score': 9.59}, {'connected_gene': 'ENSG00000255472', 'score': 9.59}, {'connected_gene': 'RNA5SP382', 'score': 9.16}, {'connected_gene': 'TEP1', 'score': 9.16}, {'connected_gene': 'PIR39681', 'score': 0.39}, {'connected_gene': 'GC14M020723', 'score': 0.39}]