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
ENST00000374514	[[24117459, 24117740], [24119146, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24120815], [24120916, 24121090], [24121171, 24122029]]	[[24119172, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24120815], [24120916, 24121090], [24121171, 24121222]]
ENST00000400061	[[24117645, 24117740], [24119146, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120713, 24120815], [24120916, 24121090], [24121171, 24122027]]	[[24119172, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120713, 24120815], [24120916, 24120924]]
ENST00000420982	[[24117676, 24117740], [24119146, 24119250], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24120815], [24120916, 24121001]]	[[24119209, 24119250], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24120815], [24120916, 24121001]]
ENST00000374505	[[24117676, 24117740], [24119146, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120713, 24121235]]	[[24119172, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120713, 24120832]]
ENST00000495365	[[24117692, 24117740], [24119146, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120552, 24120626], [24120713, 24120815], [24120916, 24121090], [24121171, 24121365]]	None
ENST00000374503	[[24117692, 24117740], [24119146, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24120815], [24121041, 24121090], [24121171, 24121445]]	[[24119172, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24120815], [24121041, 24121090], [24121171, 24121200]]
ENST00000374502	[[24117710, 24117740], [24119146, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24121360]]	[[24119172, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24120887]]
ENST00000492577	[[24118460, 24118507], [24119146, 24119250], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24120815], [24120916, 24121090], [24121171, 24121202]]	None
ENST00000421070	[[24118481, 24118507], [24119041, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120397]]	[[24119172, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120397]]
ENST00000374501	[[24120142, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24120815], [24120916, 24121090], [24121171, 24121767]]	[[24120219, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24120815], [24120916, 24121090], [24121171, 24121222]]
ENST00000472213	[[24120581, 24120626], [24120713, 24121090], [24121171, 24121571]]	None
NM_007260	[[24117645, 24117740], [24119146, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24120815], [24120916, 24121090], [24121171, 24122029]]	[[24119172, 24119250], [24119497, 24119529], [24119640, 24119706], [24120194, 24120242], [24120349, 24120420], [24120552, 24120626], [24120713, 24120815], [24120916, 24121090], [24121171, 24121222]]

Promoter

Chrom	Start	End	Description
chr1	24117627	24117659	CAGE_peak_1_at_LYPLA2_5end
chr1	24117662	24117682	CAGE_peak_2_at_LYPLA2_5end
chr1	24117694	24117717	CAGE_peak_3_at_LYPLA2_5end
chr1	24118452	24118481	CAGE_peak_5_at_LYPLA2_5end
chr1	24120112	24120133	CAGE_peak_6_at_LYPLA2_5end
chr1	24120146	24120157	CAGE_peak_8_at_LYPLA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I023751	23751351	23751600	0.68	[{'connected_gene': 'PITHD1', 'score': 12.41}, {'connected_gene': 'ELOA-AS1', 'score': 12.41}, {'connected_gene': 'LYPLA2', 'score': 11.6}, {'connected_gene': 'GC01P023754', 'score': 0.77}, {'connected_gene': 'ELOA', 'score': 0.44}]
chr1	GH01I023750	23750851	23751000	0.2	[{'connected_gene': 'PITHD1', 'score': 12.41}, {'connected_gene': 'ELOA-AS1', 'score': 12.41}, {'connected_gene': 'LYPLA2', 'score': 11.6}, {'connected_gene': 'GC01P023754', 'score': 0.77}, {'connected_gene': 'ELOA', 'score': 0.44}]
chr1	GH01I023776	23776821	23780676	2.28	[{'connected_gene': 'PITHD1', 'score': 556.34}, {'connected_gene': 'ELOA-AS1', 'score': 550.77}, {'connected_gene': 'SRSF10', 'score': 22.17}, {'connected_gene': 'KDM1A', 'score': 14.07}, {'connected_gene': 'SRRM1', 'score': 12.23}, {'connected_gene': 'ELOA', 'score': 12.08}, {'connected_gene': 'FUCA1', 'score': 10.59}, {'connected_gene': 'LYPLA2', 'score': 0.39}]
chr1	GH01I023824	23824009	23826262	2.04	[{'connected_gene': 'HMGCL', 'score': 550.39}, {'connected_gene': 'FUCA1', 'score': 14.39}, {'connected_gene': 'LYPLA2', 'score': 11.89}, {'connected_gene': 'KDM1A', 'score': 9.72}, {'connected_gene': 'GC01P023838', 'score': 0.39}, {'connected_gene': 'LOC105376861', 'score': 0.39}, {'connected_gene': 'PIR41142', 'score': 0.34}]
chr1	GH01I023789	23789186	23794550	2.27	[{'connected_gene': 'LYPLA2', 'score': 550.77}, {'connected_gene': 'LOC105376860', 'score': 550.77}, {'connected_gene': 'LINC01355', 'score': 13.67}, {'connected_gene': 'SRSF10', 'score': 12.33}, {'connected_gene': 'FUCA1', 'score': 10.02}, {'connected_gene': 'SRRM1', 'score': 9.93}]
chr1	GH01I023795	23795009	23795490	0.46	[{'connected_gene': 'LOC105376860', 'score': 550.77}, {'connected_gene': 'FUCA1', 'score': 10.12}, {'connected_gene': 'LYPLA2', 'score': 0.77}, {'connected_gene': 'GALE', 'score': 0.44}]
chr1	GH01I023930	23930531	23931990	0.83	[{'connected_gene': 'GC01P023930', 'score': 550.77}, {'connected_gene': 'PNRC2', 'score': 12.96}, {'connected_gene': 'FUCA1', 'score': 12.38}, {'connected_gene': 'SRSF10', 'score': 12.06}, {'connected_gene': 'LYPLA2', 'score': 11.39}, {'connected_gene': 'ENSG00000230228', 'score': 0.37}]