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
ENST00000346173	[[49189295, 49191105], [49210050, 49210125], [49210236, 49210305], [49216115, 49216193], [49217704, 49217776], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381666]]	[[49189871, 49191105], [49210050, 49210125], [49210236, 49210305], [49216115, 49216193], [49217704, 49217776], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381556]]
ENST00000406846	[[49189295, 49191105], [49195836, 49196022], [49210050, 49210125], [49210236, 49210305], [49216115, 49216193], [49217704, 49217776], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381676]]	[[49189871, 49191105], [49195836, 49196022], [49210050, 49210125], [49210236, 49210305], [49216115, 49216193], [49217704, 49217776], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381556]]
ENST00000304421	[[49189769, 49191105], [49195836, 49196022], [49210050, 49210125], [49210236, 49210305], [49217704, 49217776], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381620]]	[[49189871, 49191105], [49195836, 49196022], [49210050, 49210125], [49210236, 49210305], [49217704, 49217776], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381556]]
ENST00000454032	[[49190938, 49191105], [49210050, 49210125], [49210236, 49210305], [49216115, 49216193], [49217704, 49217776], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381572]]	[[49190938, 49191105], [49210050, 49210125], [49210236, 49210305], [49216115, 49216193], [49217704, 49217776], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381556]]
ENST00000419927	[[49210254, 49210305], [49216115, 49216193], [49217704, 49217776], [49241835, 49242086], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381666]]	[[49242001, 49242086], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381556]]
ENST00000541117	[[49189853, 49191105], [49195836, 49196022], [49210050, 49210125], [49210236, 49210305], [49216115, 49216193], [49217704, 49217776], [49224317, 49224452]]	[[49189871, 49191105], [49195836, 49195898]]
ENST00000469138	[[49195903, 49196022], [49210050, 49210125], [49210236, 49210305], [49216115, 49216193], [49217704, 49217776], [49224317, 49224452]]	None
NM_000145	[[49189295, 49191105], [49195836, 49196022], [49210050, 49210125], [49210236, 49210305], [49216115, 49216193], [49217704, 49217776], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381666]]	[[49189871, 49191105], [49195836, 49196022], [49210050, 49210125], [49210236, 49210305], [49216115, 49216193], [49217704, 49217776], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381556]]
NM_181446	[[49189295, 49191105], [49195836, 49196022], [49210050, 49210125], [49210236, 49210305], [49217704, 49217776], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381666]]	[[49189871, 49191105], [49195836, 49196022], [49210050, 49210125], [49210236, 49210305], [49217704, 49217776], [49244627, 49244702], [49247224, 49247299], [49295357, 49295429], [49381404, 49381556]]

Promoter

Chrom	Start	End	Description
chr2	49381628	49381639	CAGE_peak_2_at_FSHR_5end
chr2	49381646	49381667	CAGE_peak_1_at_FSHR_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I048906	48906137	48907251	0.2	[{'connected_gene': 'CTBP2P5', 'score': 0.44}, {'connected_gene': 'GC02M048841', 'score': 0.37}, {'connected_gene': 'LOC105374594', 'score': 0.14}, {'connected_gene': 'FSHR', 'score': 0.07}]
chr2	GH02I049161	49161942	49162777	0.31	[{'connected_gene': 'FSHR', 'score': 0.44}, {'connected_gene': 'GC02P049202', 'score': 0.26}, {'connected_gene': 'LOC105374594', 'score': 0.05}]
chr2	GH02I049153	49153188	49155553	0.81	[{'connected_gene': 'FSHR', 'score': 550.77}, {'connected_gene': 'PIR49342', 'score': 0.16}, {'connected_gene': 'LOC105374594', 'score': 0.05}]
chr2	GH02I049132	49132966	49133364	0.22	[{'connected_gene': 'FSHR', 'score': 1.72}, {'connected_gene': 'PIR49342', 'score': 0.19}, {'connected_gene': 'LOC105374594', 'score': 0.06}]
chr2	GH02I049002	49002597	49003619	0.2	[{'connected_gene': 'FSHR', 'score': 6.82}, {'connected_gene': 'PIR49362', 'score': 0.37}, {'connected_gene': 'GC02M048952', 'score': 0.23}, {'connected_gene': 'LOC105374594', 'score': 0.08}]
chr2	GH02I048900	48900169	48901593	0.46	[{'connected_gene': 'GC02M048841', 'score': 0.39}, {'connected_gene': 'CTBP2P5', 'score': 0.37}, {'connected_gene': 'LOC105374594', 'score': 0.15}, {'connected_gene': 'FSHR', 'score': 0.07}]