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
ENST00000592005	[[44497454, 44497889], [44526019, 44526238], [44526816, 44526886], [44601647, 44601739], [44603721, 44603832], [44610702, 44610813], [44624543, 44624853]]	[[44526835, 44526886], [44601647, 44601739], [44603721, 44603832], [44610702, 44610766]]
ENST00000585469	[[44526759, 44526886], [44572761, 44572898], [44579250, 44579417], [44580769, 44580809], [44584605, 44584723], [44585926, 44586025], [44589342, 44589441], [44589654, 44589732]]	[[44572833, 44572898], [44579250, 44579417], [44580769, 44580809], [44584605, 44584723], [44585926, 44586025], [44589342, 44589441], [44589654, 44589732]]
ENST00000245121	[[44526786, 44526886], [44579250, 44579417], [44580766, 44580809], [44584605, 44584723], [44585926, 44586025], [44589342, 44589441], [44589654, 44589732], [44593391, 44593490], [44595590, 44595654], [44595852, 44595971], [44601647, 44601739], [44603721, 44603832], [44625613, 44625776], [44626624, 44626727], [44627236, 44627658]]	[[44579344, 44579417], [44580766, 44580809], [44584605, 44584723], [44585926, 44586025], [44589342, 44589441], [44589654, 44589732], [44593391, 44593490], [44595590, 44595654], [44595852, 44595971], [44601647, 44601739], [44603721, 44603832], [44625613, 44625776], [44626624, 44626727], [44627236, 44627376]]
ENST00000356157	[[44526817, 44526886], [44572827, 44572898], [44579250, 44579417], [44580766, 44580809], [44584605, 44584723], [44585926, 44586025], [44589342, 44589441], [44589654, 44589732], [44593391, 44593490], [44595590, 44595654], [44595852, 44595971], [44601647, 44601739], [44603721, 44603832], [44625613, 44625776], [44626624, 44626727], [44627236, 44627376]]	[[44526835, 44526886], [44572827, 44572898], [44579250, 44579417], [44580766, 44580809], [44584605, 44584723], [44585926, 44586025], [44589342, 44589441], [44589654, 44589732], [44593391, 44593490], [44595590, 44595654], [44595852, 44595971], [44601647, 44601739], [44603721, 44603832], [44625613, 44625776], [44626624, 44626727], [44627236, 44627376]]
ENST00000585383	[[44579263, 44579417], [44580769, 44580972]]	None
ENST00000588433	[[44584604, 44584723], [44585926, 44586025], [44589342, 44589441], [44589654, 44589732], [44595590, 44595654], [44595852, 44595971], [44601647, 44601739], [44603721, 44603832], [44625613, 44625776], [44626627, 44626706]]	[[44584604, 44584723], [44585926, 44586025], [44589342, 44589441], [44589654, 44589732], [44595590, 44595654], [44595852, 44595971], [44601647, 44601739], [44603721, 44603832], [44625613, 44625776], [44626627, 44626706]]
ENST00000586198	[[44595593, 44595654], [44595852, 44595971], [44601647, 44601739], [44603721, 44603913]]	[[44595593, 44595654], [44595852, 44595971], [44601647, 44601739], [44603721, 44603836]]
ENST00000591522	[[44595956, 44595971], [44601647, 44601739], [44603721, 44603832], [44624543, 44625319]]	[[44595956, 44595971], [44601647, 44601739], [44603721, 44603832], [44624543, 44624790]]
NM_031303	[[44526786, 44526886], [44579250, 44579417], [44580766, 44580809], [44584605, 44584723], [44585926, 44586025], [44589342, 44589441], [44589654, 44589732], [44593391, 44593490], [44595590, 44595654], [44595852, 44595971], [44601647, 44601739], [44603721, 44603832], [44625613, 44625776], [44626624, 44626727], [44627236, 44628614]]	[[44579344, 44579417], [44580766, 44580809], [44584605, 44584723], [44585926, 44586025], [44589342, 44589441], [44589654, 44589732], [44593391, 44593490], [44595590, 44595654], [44595852, 44595971], [44601647, 44601739], [44603721, 44603832], [44625613, 44625776], [44626624, 44626727], [44627236, 44627376]]

Promoter

Chrom	Start	End	Description
chr18	44497506	44497522	CAGE_peak_3_at_KATNAL2_5end
chr18	44497547	44497582	CAGE_peak_1_at_KATNAL2_5end
chr18	44526744	44526774	CAGE_peak_5_at_KATNAL2_5end
chr18	44526786	44526811	CAGE_peak_4_at_KATNAL2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr18	GH18I047149	47149318	47151824	2.01	[{'connected_gene': 'HDHD2', 'score': 562.83}, {'connected_gene': 'IER3IP1', 'score': 11.36}, {'connected_gene': 'KATNAL2', 'score': 5.46}, {'connected_gene': 'ENSG00000267228', 'score': 0.31}, {'connected_gene': 'GC18P047085', 'score': 0.2}]
chr18	GH18I046916	46916000	46918893	1.94	[{'connected_gene': 'KATNAL2', 'score': 563.91}, {'connected_gene': 'ENSG00000279354', 'score': 550.77}, {'connected_gene': 'PIAS2', 'score': 550.77}, {'connected_gene': 'HDHD2', 'score': 6.94}, {'connected_gene': 'LOC105372097', 'score': 5.9}]
chr18	GH18I046939	46939021	46941077	0.59	[{'connected_gene': 'KATNAL2', 'score': 13.45}, {'connected_gene': 'ELOA3', 'score': 10.93}, {'connected_gene': 'ELOA2', 'score': 10.92}, {'connected_gene': 'IER3IP1', 'score': 8.27}, {'connected_gene': 'HDHD2', 'score': 6.11}, {'connected_gene': 'GC18P046926', 'score': 0.39}, {'connected_gene': 'ELOA3D', 'score': 0.34}]
chr18	GH18I046946	46946198	46947400	1.76	[{'connected_gene': 'KATNAL2', 'score': 550.31}, {'connected_gene': 'HAUS1', 'score': 10.88}, {'connected_gene': 'EPG5', 'score': 10.28}, {'connected_gene': 'HDHD2', 'score': 7.41}, {'connected_gene': 'ELOA3D', 'score': 0.37}, {'connected_gene': 'GC18P046926', 'score': 0.34}]
chr18	GH18I047035	47035587	47035646	0.5	[{'connected_gene': 'ELOA2', 'score': 550.77}, {'connected_gene': 'ELOA3', 'score': 0.44}, {'connected_gene': 'KATNAL2', 'score': 0.13}]
chr18	GH18I047174	47174649	47176999	1.98	[{'connected_gene': 'IER3IP1', 'score': 567.57}, {'connected_gene': 'ENSG00000267228', 'score': 550.77}, {'connected_gene': 'HDHD2', 'score': 23.77}, {'connected_gene': 'KATNAL2', 'score': 5.6}, {'connected_gene': 'GC18P047085', 'score': 0.16}]
chr18	GH18I047031	47030019	47030078	0.5	[{'connected_gene': 'ELOA3', 'score': 550.77}, {'connected_gene': 'KATNAL2', 'score': 550.14}, {'connected_gene': 'LOC101930171', 'score': 0.44}]
chr18	GH18I047030	47030119	47030178	0.5	[{'connected_gene': 'ELOA3', 'score': 550.77}, {'connected_gene': 'ELOA2', 'score': 0.44}, {'connected_gene': 'KATNAL2', 'score': 0.14}]
chr18	GH18I047100	47100330	47100499	0.62	[{'connected_gene': 'LOC105372098', 'score': 550.77}, {'connected_gene': 'GC18P047085', 'score': 0.37}, {'connected_gene': 'KATNAL2', 'score': 0.09}]
chr18	GH18I047075	47075230	47075379	0.57	[{'connected_gene': 'ENSG00000280212', 'score': 550.77}, {'connected_gene': 'HDHD2', 'score': 6.56}, {'connected_gene': 'ELOA2', 'score': 0.28}, {'connected_gene': 'KATNAL2', 'score': 0.1}]
chr18	GH18I047184	47184671	47185156	0.87	[{'connected_gene': 'ENSG00000267724', 'score': 22.99}, {'connected_gene': 'HDHD2', 'score': 21.37}, {'connected_gene': 'IER3IP1', 'score': 19.77}, {'connected_gene': 'KATNAL2', 'score': 6.81}, {'connected_gene': 'GC18M047235', 'score': 0.25}, {'connected_gene': 'RNU6-1131P', 'score': 0.25}, {'connected_gene': 'GC18P047085', 'score': 0.15}]
chr18	GH18I046790	46790260	46790600	0.24	[{'connected_gene': 'ENSG00000274776', 'score': 550.77}, {'connected_gene': 'KATNAL2', 'score': 14.07}, {'connected_gene': 'PIAS2', 'score': 13.45}, {'connected_gene': 'RNF165', 'score': 1.36}, {'connected_gene': 'GC18P046803', 'score': 0.39}]
chr18	GH18I047235	47235778	47235796	0.37	[{'connected_gene': 'GC18M047235', 'score': 550.77}, {'connected_gene': 'RNU6-1131P', 'score': 550.77}, {'connected_gene': 'KATNAL2', 'score': 4.32}, {'connected_gene': 'PIAS2', 'score': 1.2}, {'connected_gene': 'GC18P047244', 'score': 0.44}, {'connected_gene': 'SKOR2', 'score': 0.37}, {'connected_gene': 'GC18P047085', 'score': 0.1}]