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
ENST00000513293	[[20995305, 20995921], [21005624, 21005750], [21006364, 21007118], [21008019, 21008145], [21011587, 21011694], [21015896, 21016009], [21026594, 21026722], [21029293, 21029397], [21031551, 21031608]]	[[21007035, 21007118], [21008019, 21008145], [21011587, 21011694], [21015896, 21016009], [21026594, 21026722], [21029293, 21029397], [21031551, 21031589]]
ENST00000495827	[[20999513, 21007118], [21008019, 21008145], [21011587, 21011694], [21015896, 21016009], [21026594, 21026722], [21029293, 21029397], [21031551, 21031635]]	[[21007035, 21007118], [21008019, 21008145], [21011587, 21011694], [21015896, 21016009], [21026594, 21026722], [21029293, 21029397], [21031551, 21031589]]
ENST00000488436	[[21015135, 21016009], [21017807, 21017909], [21026594, 21026744]]	None
NM_001321883	[[21003619, 21007118], [21008019, 21008145], [21011587, 21011694], [21015896, 21016009], [21026594, 21026722], [21029293, 21029397], [21031398, 21031458]]	[[21007035, 21007118], [21008019, 21008145], [21011587, 21011694], [21015896, 21016009], [21026594, 21026722], [21029293, 21029324]]
NM_001321903	[[21003619, 21007118], [21008019, 21008145], [21010723, 21010781], [21011342, 21011437], [21011587, 21011694], [21015896, 21016009], [21026594, 21026722], [21029293, 21029397], [21031551, 21031674]]	[[21007035, 21007118], [21008019, 21008145], [21010723, 21010781], [21011342, 21011437], [21011587, 21011694], [21015896, 21016009], [21026594, 21026722], [21029293, 21029397], [21031551, 21031589]]
NM_001010915	[[21003619, 21007118], [21008019, 21008145], [21011587, 21011694], [21015896, 21016009], [21026594, 21026722], [21029293, 21029397], [21031551, 21031674]]	[[21007035, 21007118], [21008019, 21008145], [21011587, 21011694], [21015896, 21016009], [21026594, 21026722], [21029293, 21029397], [21031551, 21031589]]

Promoter

Chrom	Start	End	Description
chr9	21031599	21031600	CAGE_peak_3_at_PTPLAD2_5end
chr9	21031615	21031651	CAGE_peak_1_at_PTPLAD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I020759	20759800	20760955	0.52	[{'connected_gene': 'MIR491', 'score': 11.57}, {'connected_gene': 'FOCAD', 'score': 11.45}, {'connected_gene': 'HACD4', 'score': 5.7}, {'connected_gene': 'GC09P020787', 'score': 0.31}]
chr9	GH09I020872	20872400	20873636	0.69	[{'connected_gene': 'FOCAD', 'score': 10.87}, {'connected_gene': 'MIR491', 'score': 10.07}, {'connected_gene': 'HACD4', 'score': 5.71}, {'connected_gene': 'SNORA30B', 'score': 0.17}, {'connected_gene': 'LOC105375989', 'score': 0.1}]
chr9	GH09I021061	21061256	21061463	0.52	[{'connected_gene': 'HACD4', 'score': 12.23}, {'connected_gene': 'IFNNP1', 'score': 0.77}, {'connected_gene': 'IFNB1', 'score': 0.37}]
chr9	GH09I021094	21094435	21097558	1.16	[{'connected_gene': 'HACD4', 'score': 20.75}, {'connected_gene': 'FOCAD', 'score': 2.83}, {'connected_gene': 'GC09P021108', 'score': 0.39}, {'connected_gene': 'IFNWP4', 'score': 0.39}, {'connected_gene': 'IFNB1', 'score': 0.37}]
chr9	GH09I020941	20941001	20941401	0.91	[{'connected_gene': 'HACD4', 'score': 12.3}, {'connected_gene': 'MLLT3', 'score': 11.04}, {'connected_gene': 'FOCAD', 'score': 10.8}, {'connected_gene': 'LOC105375989', 'score': 0.17}, {'connected_gene': 'SNORA30B', 'score': 0.1}]
chr9	GH09I021069	21069503	21070811	0.8	[{'connected_gene': 'HACD4', 'score': 15.99}, {'connected_gene': 'IFNB1', 'score': 0.44}, {'connected_gene': 'IFNNP1', 'score': 0.39}]
chr9	GH09I021097	21097942	21098071	0.31	[{'connected_gene': 'HACD4', 'score': 10.81}, {'connected_gene': 'GC09P021108', 'score': 0.44}, {'connected_gene': 'IFNWP4', 'score': 0.44}, {'connected_gene': 'IFNB1', 'score': 0.34}]
chr9	GH09I020962	20962310	20963422	0.2	[{'connected_gene': 'HACD4', 'score': 10.96}, {'connected_gene': 'LOC105375989', 'score': 0.2}, {'connected_gene': 'SNORA30B', 'score': 0.1}, {'connected_gene': 'FOCAD', 'score': 0.06}]
chr9	GH09I020980	20980533	20982439	0.82	[{'connected_gene': 'HACD4', 'score': 28.12}, {'connected_gene': 'LOC105375989', 'score': 0.25}, {'connected_gene': 'SNORA30B', 'score': 0.08}, {'connected_gene': 'FOCAD', 'score': 0.05}]
chr9	GH09I020973	20973232	20975098	0.43	[{'connected_gene': 'HACD4', 'score': 13.98}, {'connected_gene': 'LOC105375989', 'score': 0.22}, {'connected_gene': 'SNORA30B', 'score': 0.09}, {'connected_gene': 'FOCAD', 'score': 0.06}]
chr9	GH09I021001	21001307	21003155	0.31	[{'connected_gene': 'HACD4', 'score': 11.79}, {'connected_gene': 'LOC105375989', 'score': 0.31}, {'connected_gene': 'SNORA30B', 'score': 0.08}]
chr9	GH09I021023	21023401	21024800	0.31	[{'connected_gene': 'HACD4', 'score': 14.51}, {'connected_gene': 'LOC105375989', 'score': 0.44}, {'connected_gene': 'SNORA30B', 'score': 0.07}]
chr9	GH09I020997	20997802	20997951	0.38	[{'connected_gene': 'HACD4', 'score': 11.77}, {'connected_gene': 'LOC105375989', 'score': 0.29}, {'connected_gene': 'SNORA30B', 'score': 0.08}]
chr9	GH09I021017	21017202	21017371	0.38	[{'connected_gene': 'HACD4', 'score': 13.32}, {'connected_gene': 'LOC105375989', 'score': 0.39}, {'connected_gene': 'SNORA30B', 'score': 0.07}]
chr9	GH09I021030	21030020	21032266	1.7	[{'connected_gene': 'HACD4', 'score': 586.85}, {'connected_gene': 'LOC105375989', 'score': 550.77}]
chr9	GH09I021111	21111042	21111191	0.59	[{'connected_gene': 'HACD4', 'score': 11.74}, {'connected_gene': 'GC09P021108', 'score': 0.77}, {'connected_gene': 'IFNWP4', 'score': 0.77}, {'connected_gene': 'ENSG00000275980', 'score': 0.31}]
chr9	GH09I021016	21016784	21016803	0.27	[{'connected_gene': 'IFNW1', 'score': 19.64}, {'connected_gene': 'IFNA1', 'score': 9.21}, {'connected_gene': 'IFNA6', 'score': 9.11}, {'connected_gene': 'IFNA5', 'score': 1.52}, {'connected_gene': 'LOC105375989', 'score': 0.39}, {'connected_gene': 'HACD4', 'score': 0.39}, {'connected_gene': 'SNORA30B', 'score': 0.07}]