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
ENST00000560240	[[49398267, 49398517], [49411241, 49411364], [49421673, 49421756], [49422915, 49422970]]	[[49411334, 49411364], [49421673, 49421756], [49422915, 49422970]]
ENST00000388901	[[49417491, 49420291], [49420898, 49420957], [49421673, 49421756], [49422915, 49423013], [49425955, 49426008], [49426126, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429634], [49431724, 49431850], [49436423, 49436501], [49437161, 49437275], [49447721, 49447849]]	[[49420146, 49420291], [49420898, 49420957], [49421673, 49421756], [49422915, 49423013], [49425955, 49426008], [49426126, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429634], [49431724, 49431850], [49436423, 49436501], [49437161, 49437275], [49447721, 49447775]]
ENST00000299259	[[49419546, 49420291], [49420898, 49420957], [49421673, 49421756], [49422915, 49423013], [49425955, 49426008], [49426126, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429655], [49431724, 49431850], [49436423, 49436501], [49437161, 49437275], [49447721, 49447858]]	[[49420146, 49420291], [49420898, 49420957], [49421673, 49421756], [49422915, 49423013], [49425955, 49426008], [49426126, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429655], [49431724, 49431850], [49436423, 49436501], [49437161, 49437275], [49447721, 49447775]]
ENST00000542928	[[49419732, 49420291], [49420898, 49420957], [49421673, 49421756], [49422915, 49423013], [49425955, 49426008], [49426126, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429634], [49431724, 49431850], [49447721, 49447801]]	[[49420146, 49420291], [49420898, 49420957], [49421673, 49421756], [49422915, 49423013], [49425955, 49426008], [49426126, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429634], [49431724, 49431850], [49447721, 49447775]]
ENST00000558843	[[49426229, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429634], [49431724, 49431850], [49436423, 49436501], [49437161, 49437275], [49447721, 49447787]]	[[49426229, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429634], [49431724, 49431850], [49436423, 49436501], [49437161, 49437275], [49447721, 49447775]]
ENST00000561248	[[49426279, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429634], [49431724, 49431850], [49447721, 49447801]]	[[49426279, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429634], [49431724, 49431850], [49447721, 49447775]]
ENST00000559016	[[49426331, 49426711], [49429346, 49429424], [49429544, 49429656]]	None
ENST00000558545	[[49431454, 49431850], [49436423, 49436501], [49437161, 49437275], [49447721, 49447801]]	None
NM_001143887	[[49417470, 49420291], [49420898, 49420957], [49421673, 49421756], [49422915, 49423013], [49425955, 49426008], [49426126, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429655], [49431724, 49431850], [49436423, 49436501], [49437161, 49437275], [49447721, 49447854]]	[[49420146, 49420291], [49420898, 49420957], [49421673, 49421756], [49422915, 49423013], [49425955, 49426008], [49426126, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429655], [49431724, 49431850], [49436423, 49436501], [49437161, 49437275], [49447721, 49447775]]
NM_004236	[[49417470, 49420291], [49420898, 49420957], [49421673, 49421756], [49422915, 49423013], [49425955, 49426008], [49426126, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429634], [49431724, 49431850], [49436423, 49436501], [49437161, 49437275], [49447721, 49447854]]	[[49420146, 49420291], [49420898, 49420957], [49421673, 49421756], [49422915, 49423013], [49425955, 49426008], [49426126, 49426305], [49426536, 49426711], [49429346, 49429424], [49429544, 49429634], [49431724, 49431850], [49436423, 49436501], [49437161, 49437275], [49447721, 49447775]]

Promoter

Chrom	Start	End	Description
chr15	49447759	49447769	CAGE_peak_3_at_COPS2_5end
chr15	49447771	49447822	CAGE_peak_1_at_COPS2_5end
chr15	49447835	49447845	CAGE_peak_2_at_COPS2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I049154	49154135	49157201	2.09	[{'connected_gene': 'COPS2', 'score': 574.11}, {'connected_gene': 'NDUFAF4P1', 'score': 550.77}, {'connected_gene': 'GALK2', 'score': 550.77}, {'connected_gene': 'DTWD1', 'score': 38.03}, {'connected_gene': 'DUT', 'score': 22.44}, {'connected_gene': 'ENSG00000259488', 'score': 13.69}, {'connected_gene': 'CEP152', 'score': 13.04}, {'connected_gene': 'FGF7', 'score': 10.96}, {'connected_gene': 'SECISBP2L', 'score': 10.74}, {'connected_gene': 'FAM227B', 'score': 5.64}]
chr15	GH15I049195	49195824	49196028	0.41	[{'connected_gene': 'GALK2', 'score': 12.02}, {'connected_gene': 'COPS2', 'score': 12.02}, {'connected_gene': 'RN7SL307P', 'score': 0.77}, {'connected_gene': 'GC15P049181', 'score': 0.39}]
chr15	GH15I048809	48809861	48812023	2.02	[{'connected_gene': 'CEP152', 'score': 580.07}, {'connected_gene': 'ENSG00000259700', 'score': 550.77}, {'connected_gene': 'COPS2', 'score': 11.4}, {'connected_gene': 'GC15P048773', 'score': 0.28}]
chr15	GH15I049421	49421945	49426600	2.16	[{'connected_gene': 'FGF7', 'score': 569.04}, {'connected_gene': 'DTWD1', 'score': 16.6}, {'connected_gene': 'COPS2', 'score': 14.16}, {'connected_gene': 'ENSG00000259715', 'score': 12.41}, {'connected_gene': 'SECISBP2L', 'score': 10.34}, {'connected_gene': 'GALK2', 'score': 4.23}, {'connected_gene': 'LOC105370811', 'score': 0.2}, {'connected_gene': 'FAM227B', 'score': 0.08}]
chr15	GH15I049152	49152890	49153296	0.31	[{'connected_gene': 'FGF7', 'score': 6.22}, {'connected_gene': 'GALK2', 'score': 0.77}, {'connected_gene': 'COPS2', 'score': 0.77}, {'connected_gene': 'GC15M049139', 'score': 0.37}, {'connected_gene': 'ENSG00000200120', 'score': 0.37}]
chr15	GH15I049146	49146104	49146293	0.59	[{'connected_gene': 'FGF7', 'score': 5.96}, {'connected_gene': 'FAM227B', 'score': 4.26}, {'connected_gene': 'GC15M049139', 'score': 0.44}, {'connected_gene': 'GALK2', 'score': 0.44}, {'connected_gene': 'ENSG00000200120', 'score': 0.44}, {'connected_gene': 'COPS2', 'score': 0.44}]
chr15	GH15I049133	49133973	49139176	0.86	[{'connected_gene': 'GC15M049139', 'score': 550.77}, {'connected_gene': 'ENSG00000200120', 'score': 550.77}, {'connected_gene': 'SECISBP2L', 'score': 10.77}, {'connected_gene': 'SHC4', 'score': 10.61}, {'connected_gene': 'FGF7', 'score': 6.26}, {'connected_gene': 'GALK2', 'score': 5.29}, {'connected_gene': 'FAM227B', 'score': 4.79}, {'connected_gene': 'COPS2', 'score': 0.37}, {'connected_gene': 'GC15M049107', 'score': 0.31}]
chr15	GH15I049127	49127341	49127922	0.51	[{'connected_gene': 'GC15M049139', 'score': 0.39}, {'connected_gene': 'ENSG00000200120', 'score': 0.39}, {'connected_gene': 'GC15M049107', 'score': 0.34}, {'connected_gene': 'COPS2', 'score': 0.31}]