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
ENST00000382758	[[21302869, 21303355], [21305979, 21306260], [21311861, 21311944], [21331593, 21331756], [21348059, 21348088]]	[[21303218, 21303355], [21305979, 21306260], [21311861, 21311944], [21331593, 21331737]]
ENST00000382754	[[21303069, 21303355], [21305979, 21306260], [21311861, 21311944], [21331593, 21331756], [21347995, 21348057]]	[[21303218, 21303355], [21305979, 21306260], [21311861, 21311944], [21331593, 21331737]]
ENST00000460374	[[21331367, 21331756], [21348059, 21348097]]	None
NM_174928	[[21303069, 21303355], [21305979, 21306260], [21311861, 21311944], [21331593, 21331756], [21347995, 21348097]]	[[21303218, 21303355], [21305979, 21306260], [21311861, 21311944], [21331593, 21331737]]
NM_001318939	[[21303069, 21303355], [21305979, 21306260], [21311861, 21311944], [21331593, 21331756], [21348059, 21348097]]	[[21303218, 21303355], [21305979, 21306260], [21311861, 21311944], [21331593, 21331737]]
NR_134934	[[21303069, 21303355], [21305979, 21306260], [21331593, 21331756], [21348059, 21348097]]	None

Promoter

Chrom	Start	End	Description
chr13	21348050	21348065	CAGE_peak_2_at_N6AMT2_5end
chr13	21348066	21348111	CAGE_peak_1_at_N6AMT2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I020708	20708427	20710137	0.66	[{'connected_gene': 'IFT88', 'score': 29.57}, {'connected_gene': 'XPO4', 'score': 11.59}, {'connected_gene': 'EEF1AKMT1', 'score': 11.46}, {'connected_gene': 'SLC35E1P1', 'score': 11.17}, {'connected_gene': 'CRYL1', 'score': 10.83}, {'connected_gene': 'ENSG00000279135', 'score': 0.77}, {'connected_gene': 'GC13M020702', 'score': 0.44}, {'connected_gene': 'IL17D', 'score': 0.44}, {'connected_gene': 'ENSG00000278291', 'score': 0.44}]
chr13	GH13I020882	20882283	20883311	0.8	[{'connected_gene': 'IFT88', 'score': 13.29}, {'connected_gene': 'GC13P020892', 'score': 0.44}, {'connected_gene': 'XPO4', 'score': 0.34}, {'connected_gene': 'EEF1AKMT1', 'score': 0.14}]
chr13	GH13I020552	20552722	20554933	1.21	[{'connected_gene': 'IFT88', 'score': 21.9}, {'connected_gene': 'CRYL1', 'score': 13.71}, {'connected_gene': 'SLC35E1P1', 'score': 11.54}, {'connected_gene': 'EEF1AKMT1', 'score': 10.06}, {'connected_gene': 'IL17D', 'score': 6.28}, {'connected_gene': 'LOC105370103', 'score': 0.39}]
chr13	GH13I021174	21174737	21177946	2.07	[{'connected_gene': 'MRPL57', 'score': 550.77}, {'connected_gene': 'SKA3', 'score': 550.77}, {'connected_gene': 'EEF1AKMT1', 'score': 10.09}, {'connected_gene': 'SAP18', 'score': 7.25}]
chr13	GH13I020787	20787793	20789961	0.46	[{'connected_gene': 'XPO4', 'score': 10.84}, {'connected_gene': 'CRYL1', 'score': 5.61}, {'connected_gene': 'IL17D', 'score': 4.8}, {'connected_gene': 'EEF1AKMT1', 'score': 0.39}, {'connected_gene': 'GC13P020892', 'score': 0.15}]
chr13	GH13I020843	20843302	20843471	0.2	[{'connected_gene': 'XPO4', 'score': 12.11}, {'connected_gene': 'GC13P020892', 'score': 0.25}, {'connected_gene': 'EEF1AKMT1', 'score': 0.2}]
chr13	GH13I020130	20130281	20130659	0.58	[{'connected_gene': 'MPHOSPH8', 'score': 13.41}, {'connected_gene': 'ZMYM5', 'score': 12.94}, {'connected_gene': 'XPO4', 'score': 9.87}, {'connected_gene': 'EEF1AKMT1', 'score': 9.73}, {'connected_gene': 'LOC105370101', 'score': 0.39}, {'connected_gene': 'GJA3', 'score': 0.29}]
chr13	GH13I020716	20716673	20718741	0.43	[{'connected_gene': 'CRYL1', 'score': 15.33}, {'connected_gene': 'IFT88', 'score': 13.38}, {'connected_gene': 'EEF1AKMT1', 'score': 11.64}, {'connected_gene': 'XPO4', 'score': 11.59}, {'connected_gene': 'ENSG00000279135', 'score': 0.44}, {'connected_gene': 'GC13M020722', 'score': 0.44}, {'connected_gene': 'IL17D', 'score': 0.37}]
chr13	GH13I020546	20546322	20548355	0.92	[{'connected_gene': 'CRYL1', 'score': 17.31}, {'connected_gene': 'IFT88', 'score': 11.72}, {'connected_gene': 'EEF1AKMT1', 'score': 10.06}]
chr13	GH13I020489	20489322	20489451	0.46	[{'connected_gene': 'CRYL1', 'score': 29.65}, {'connected_gene': 'EEF1AKMT1', 'score': 10.27}, {'connected_gene': 'MIR4499', 'score': 0.22}]
chr13	GH13I020494	20494917	20496767	1.03	[{'connected_gene': 'CRYL1', 'score': 23.28}, {'connected_gene': 'EEF1AKMT1', 'score': 10.34}, {'connected_gene': 'MIR4499', 'score': 0.21}]
chr13	GH13I020772	20772299	20774571	1.99	[{'connected_gene': 'EEF1AKMT1', 'score': 556.84}, {'connected_gene': 'ZMYM5', 'score': 14.61}, {'connected_gene': 'SLC35E1P1', 'score': 14.31}, {'connected_gene': 'RNU2-7P', 'score': 11.96}, {'connected_gene': 'RPS7P10', 'score': 10.83}, {'connected_gene': 'IFT88', 'score': 10.69}, {'connected_gene': 'ZMYM2', 'score': 10.18}, {'connected_gene': 'CRYL1', 'score': 5.54}, {'connected_gene': 'XPO4', 'score': 5.17}, {'connected_gene': 'ENSG00000275485', 'score': 0.77}]
chr13	GH13I020812	20812984	20815943	1.29	[{'connected_gene': 'EEF1AKMT1', 'score': 18.43}, {'connected_gene': 'IFT88', 'score': 12.57}, {'connected_gene': 'GC13P020892', 'score': 0.18}, {'connected_gene': 'XPO4', 'score': 0.17}]
chr13	GH13I020730	20730486	20730839	0.22	[{'connected_gene': 'EEF1AKMT1', 'score': 12.11}, {'connected_gene': 'IL17D', 'score': 10.45}, {'connected_gene': 'CRYL1', 'score': 10.39}, {'connected_gene': 'XPO4', 'score': 5.88}, {'connected_gene': 'IFT88', 'score': 4.92}, {'connected_gene': 'GC13M020722', 'score': 0.44}, {'connected_gene': 'RANP8', 'score': 0.37}]
chr13	GH13I020822	20822940	20826336	0.7	[{'connected_gene': 'EEF1AKMT1', 'score': 18.47}, {'connected_gene': 'CRYL1', 'score': 15.11}, {'connected_gene': 'SLC35E1P1', 'score': 13.32}, {'connected_gene': 'IFT88', 'score': 12.19}, {'connected_gene': 'IL17D', 'score': 10.22}, {'connected_gene': 'GC13P020892', 'score': 0.2}, {'connected_gene': 'XPO4', 'score': 0.18}]
chr13	GH13I020800	20800862	20802548	0.75	[{'connected_gene': 'EEF1AKMT1', 'score': 12.08}, {'connected_gene': 'CRYL1', 'score': 10.0}, {'connected_gene': 'XPO4', 'score': 5.64}, {'connected_gene': 'IFT88', 'score': 4.61}, {'connected_gene': 'GC13P020892', 'score': 0.16}]
chr13	GH13I020797	20797193	20798671	0.66	[{'connected_gene': 'EEF1AKMT1', 'score': 16.91}, {'connected_gene': 'CRYL1', 'score': 15.62}, {'connected_gene': 'XPO4', 'score': 11.85}, {'connected_gene': 'GC13P020892', 'score': 0.16}]
chr13	GH13I020828	20828401	20829000	1.04	[{'connected_gene': 'EEF1AKMT1', 'score': 11.06}, {'connected_gene': 'CRYL1', 'score': 10.47}, {'connected_gene': 'GC13P020892', 'score': 0.21}, {'connected_gene': 'XPO4', 'score': 0.19}]
chr13	GH13I020823	20822522	20822671	0.2	[{'connected_gene': 'EEF1AKMT1', 'score': 11.47}, {'connected_gene': 'CRYL1', 'score': 9.34}, {'connected_gene': 'GC13P020892', 'score': 0.2}, {'connected_gene': 'XPO4', 'score': 0.18}]
chr13	GH13I020826	20826816	20827507	0.31	[{'connected_gene': 'EEF1AKMT1', 'score': 11.06}, {'connected_gene': 'CRYL1', 'score': 10.47}, {'connected_gene': 'IL17D', 'score': 10.22}, {'connected_gene': 'GC13P020892', 'score': 0.2}, {'connected_gene': 'XPO4', 'score': 0.18}]
chr13	GH13I020729	20729042	20729191	0.2	[{'connected_gene': 'EEF1AKMT1', 'score': 12.11}, {'connected_gene': 'CRYL1', 'score': 10.39}, {'connected_gene': 'GC13M020722', 'score': 0.44}, {'connected_gene': 'RANP8', 'score': 0.37}]
chr13	GH13I020231	20231202	20233100	1.04	[{'connected_gene': 'GJB6', 'score': 557.21}, {'connected_gene': 'EEF1AKMT1', 'score': 10.22}, {'connected_gene': 'SLC35E1P1', 'score': 10.22}, {'connected_gene': 'TPTE2', 'score': 9.87}, {'connected_gene': 'MPHOSPH8', 'score': 9.66}, {'connected_gene': 'ENSG00000279065', 'score': 0.28}]
chr13	GH13I020720	20720879	20722444	0.74	[{'connected_gene': 'GC13M020722', 'score': 550.77}, {'connected_gene': 'IFT88', 'score': 11.67}, {'connected_gene': 'EEF1AKMT1', 'score': 11.65}, {'connected_gene': 'CRYL1', 'score': 10.36}, {'connected_gene': 'IL17D', 'score': 7.75}, {'connected_gene': 'ENSG00000279135', 'score': 0.44}]
chr13	GH13I020712	20712551	20716039	1.03	[{'connected_gene': 'ENSG00000279135', 'score': 550.77}, {'connected_gene': 'SLC35E1P1', 'score': 12.5}, {'connected_gene': 'IFT88', 'score': 11.88}, {'connected_gene': 'XPO4', 'score': 11.59}, {'connected_gene': 'EEF1AKMT1', 'score': 11.47}, {'connected_gene': 'CRYL1', 'score': 9.99}, {'connected_gene': 'GC13M020722', 'score': 0.44}, {'connected_gene': 'IL17D', 'score': 0.39}]
chr13	GH13I020702	20702003	20704801	1.84	[{'connected_gene': 'GC13M020702', 'score': 550.77}, {'connected_gene': 'IL17D', 'score': 550.77}, {'connected_gene': 'ENSG00000278291', 'score': 550.77}, {'connected_gene': 'IFT88', 'score': 30.5}, {'connected_gene': 'EEF1AKMT1', 'score': 11.4}, {'connected_gene': 'CRYL1', 'score': 10.84}]
chr13	GH13I020769	20769242	20769351	0.38	[{'connected_gene': 'ENSG00000275485', 'score': 550.77}, {'connected_gene': 'EEF1AKMT1', 'score': 0.77}, {'connected_gene': 'RANP8', 'score': 0.34}]