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
ENST00000281772	[[210886146, 210887903], [210888756, 210888925], [210889827, 210889940], [210892019, 210892074], [210893568, 210893693], [210894526, 210894642], [210896144, 210896270], [210905143, 210905251], [210908662, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211019335], [211035872, 211036107]]	[[210887672, 210887903], [210888756, 210888925], [210889827, 210889940], [210892019, 210892074], [210893568, 210893693], [210894526, 210894642], [210896144, 210896270], [210905143, 210905251], [210908662, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211019306]]
ENST00000418791	[[210887156, 210887903], [210888756, 210888925], [210889827, 210889940], [210892019, 210892074], [210893568, 210893693], [210894526, 210894642], [210905143, 210905251], [210908662, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211019335], [211035872, 211036051]]	[[210887672, 210887903], [210888756, 210888925], [210889827, 210889940], [210892019, 210892074], [210893568, 210893693], [210894526, 210894642], [210905143, 210905251], [210908662, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211019306]]
ENST00000452086	[[210905046, 210905251], [210908662, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211019335], [211035872, 211036051]]	[[210905054, 210905251], [210908662, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211019306]]
ENST00000453904	[[211016128, 211019335], [211034945, 211035378]]	None
ENST00000429908	[[211018906, 211019335], [211035060, 211035318]]	None
ENST00000457374	[[210905046, 210905251], [210908662, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211019335], [211019917, 211020026]]	[[210905054, 210905251], [210908662, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211019306]]
ENST00000428655	[[210908156, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211018389]]	[[210908636, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211018389]]
ENST00000460256	[[210944528, 210944622], [210945000, 210945064], [210962809, 210962931], [210968827, 210968919]]	None
ENST00000438563	[[210962572, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211018327]]	[[210962805, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211018327]]
ENST00000415553	[[210968743, 210969025], [210993754, 210993896], [211018218, 211018462]]	[[210968812, 210969025], [210993754, 210993896], [211018218, 211018462]]
NM_152519	[[210886144, 210887903], [210888756, 210888925], [210889827, 210889940], [210892019, 210892074], [210893568, 210893693], [210894526, 210894642], [210896144, 210896270], [210905143, 210905251], [210908662, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211019335], [211035872, 211036094]]	[[210887672, 210887903], [210888756, 210888925], [210889827, 210889940], [210892019, 210892074], [210893568, 210893693], [210894526, 210894642], [210896144, 210896270], [210905143, 210905251], [210908662, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211019306]]
NM_001307976	[[210886144, 210887903], [210888756, 210888925], [210889827, 210889940], [210892019, 210892074], [210893568, 210893693], [210894526, 210894642], [210905143, 210905251], [210908662, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211019335], [211035872, 211036094]]	[[210887672, 210887903], [210888756, 210888925], [210889827, 210889940], [210892019, 210892074], [210893568, 210893693], [210894526, 210894642], [210905143, 210905251], [210908662, 210908828], [210940275, 210940480], [210962809, 210962931], [210968827, 210969025], [210993754, 210993896], [211018218, 211019306]]

Promoter

Chrom	Start	End	Description
chr2	211035431	211035469	CAGE_peak_3_at_C2orf67_5end
chr2	211036070	211036121	CAGE_peak_1_at_C2orf67_5end
chr2	211036126	211036138	CAGE_peak_2_at_C2orf67_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I210195	210195201	210195600	0.65	[{'connected_gene': 'RPE', 'score': 15.96}, {'connected_gene': 'KANSL1L', 'score': 11.78}, {'connected_gene': 'ACADL', 'score': 10.75}, {'connected_gene': 'ENSG00000279317', 'score': 0.34}]
chr2	GH02I210001	210001559	210005343	1.98	[{'connected_gene': 'RPE', 'score': 556.15}, {'connected_gene': 'LOC101928020', 'score': 11.43}, {'connected_gene': 'KANSL1L', 'score': 10.41}, {'connected_gene': 'MAP2', 'score': 3.81}, {'connected_gene': 'GC02M209962', 'score': 0.37}]
chr2	GH02I210070	210070893	210071219	0.22	[{'connected_gene': 'ACADL', 'score': 1.43}, {'connected_gene': 'KANSL1L', 'score': 1.29}, {'connected_gene': 'GC02P210074', 'score': 0.77}, {'connected_gene': 'LOC101928020', 'score': 0.26}]
chr2	GH02I210007	210007930	210008357	0.74	[{'connected_gene': 'KANSL1L', 'score': 14.02}, {'connected_gene': 'RPE', 'score': 0.44}, {'connected_gene': 'GC02M209962', 'score': 0.39}]
chr2	GH02I210167	210167832	210172878	2.21	[{'connected_gene': 'KANSL1L', 'score': 556.1}, {'connected_gene': 'ENSG00000279317', 'score': 550.77}, {'connected_gene': 'MAP2', 'score': 4.34}, {'connected_gene': 'GC02M210099', 'score': 0.21}]