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
ENST00000456682	[[85198215, 85198590], [85241058, 85241176], [85255011, 85255179]]	[[85255148, 85255179]]
ENST00000409785	[[85198215, 85198590], [85255011, 85255179], [85262138, 85262278], [85270686, 85270788], [85273226, 85273401], [85276488, 85276771], [85280270, 85286595]]	[[85198574, 85198590], [85255011, 85255179], [85262138, 85262278], [85270686, 85270788], [85273226, 85273401], [85276488, 85276771], [85280270, 85280532]]
ENST00000428691	[[85199086, 85199368], [85255011, 85255179], [85262138, 85262248]]	[[85255148, 85255179], [85262138, 85262248]]
ENST00000453448	[[85199323, 85199363], [85255011, 85255179], [85262138, 85262278], [85270686, 85270788], [85273226, 85273401]]	[[85255148, 85255179], [85262138, 85262278], [85270686, 85270788], [85273226, 85273401]]
NM_020122	[[85198230, 85198590], [85255011, 85255179], [85262138, 85262278], [85270686, 85270788], [85273226, 85273401], [85276488, 85276771], [85280270, 85286595]]	[[85198574, 85198590], [85255011, 85255179], [85262138, 85262278], [85270686, 85270788], [85273226, 85273401], [85276488, 85276771], [85280270, 85280532]]

Promoter

Chrom	Start	End	Description
chr2	85197924	85197955	CAGE_peak_3_at_KCMF1_5end
chr2	85198231	85198305	CAGE_peak_1_at_KCMF1_5end
chr2	85198369	85198483	CAGE_peak_2_at_KCMF1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I085053	85053411	85055000	1.22	[{'connected_gene': 'TCF7L1', 'score': 10.97}, {'connected_gene': 'RNU6-674P', 'score': 10.89}, {'connected_gene': 'PIR46561', 'score': 0.39}, {'connected_gene': 'GC02M085069', 'score': 0.39}, {'connected_gene': 'GC02M084958', 'score': 0.28}, {'connected_gene': 'KCMF1', 'score': 0.18}]
chr2	GH02I085404	85404401	85412400	1.97	[{'connected_gene': 'CAPG', 'score': 576.98}, {'connected_gene': 'RETSAT', 'score': 12.18}, {'connected_gene': 'TGOLN2', 'score': 1.49}, {'connected_gene': 'KCMF1', 'score': 1.2}, {'connected_gene': 'LOC105374841', 'score': 0.44}, {'connected_gene': 'ENSG00000273196', 'score': 0.34}, {'connected_gene': 'GC02P085363', 'score': 0.25}]
chr2	GH02I085057	85057401	85059050	0.82	[{'connected_gene': 'KCMF1', 'score': 11.63}, {'connected_gene': 'TCF7L1', 'score': 10.97}, {'connected_gene': 'RNU6-674P', 'score': 10.9}, {'connected_gene': 'PIR46561', 'score': 0.44}, {'connected_gene': 'GC02M085069', 'score': 0.44}, {'connected_gene': 'GC02M084958', 'score': 0.26}]
chr2	GH02I084937	84937757	84940768	1.54	[{'connected_gene': 'KCMF1', 'score': 1.58}, {'connected_gene': 'TRABD2A', 'score': 1.49}, {'connected_gene': 'GC02M084928', 'score': 0.39}, {'connected_gene': 'LOC105374838', 'score': 0.39}, {'connected_gene': 'GC02M084965', 'score': 0.29}]
chr2	GH02I084968	84968041	84973812	2.16	[{'connected_gene': 'KCMF1', 'score': 557.83}, {'connected_gene': 'GC02M084965', 'score': 550.77}, {'connected_gene': 'GC02M084958', 'score': 0.25}]
chr2	GH02I084918	84918210	84921473	1.76	[{'connected_gene': 'MAT2A', 'score': 12.4}, {'connected_gene': 'TCF7L1', 'score': 11.97}, {'connected_gene': 'ELMOD3', 'score': 11.5}, {'connected_gene': 'KCMF1', 'score': 11.49}, {'connected_gene': 'TMSB10', 'score': 2.54}, {'connected_gene': 'RPS2P17', 'score': 0.77}, {'connected_gene': 'LOC105374838', 'score': 0.44}]
chr2	GH02I084963	84963338	84965643	1.37	[{'connected_gene': 'RPS2P17', 'score': 10.85}, {'connected_gene': 'TRABD2A', 'score': 10.82}, {'connected_gene': 'KCMF1', 'score': 5.83}, {'connected_gene': 'GC02M084965', 'score': 0.44}, {'connected_gene': 'GC02M084928', 'score': 0.28}, {'connected_gene': 'LOC105374838', 'score': 0.28}, {'connected_gene': 'GC02M084958', 'score': 0.23}]
chr2	GH02I084975	84975801	84976600	0.2	[{'connected_gene': 'RPS2P17', 'score': 10.63}, {'connected_gene': 'TRABD2A', 'score': 10.62}, {'connected_gene': 'KCMF1', 'score': 6.17}, {'connected_gene': 'GC02M085007', 'score': 0.31}, {'connected_gene': 'PIR52578', 'score': 0.31}, {'connected_gene': 'GC02M084958', 'score': 0.26}]
chr2	GH02I084990	84990038	84993187	0.96	[{'connected_gene': 'RPS2P17', 'score': 11.01}, {'connected_gene': 'TRABD2A', 'score': 11.01}, {'connected_gene': 'KCMF1', 'score': 6.09}, {'connected_gene': 'GC02M085007', 'score': 0.39}, {'connected_gene': 'PIR52578', 'score': 0.39}, {'connected_gene': 'GC02M084958', 'score': 0.31}]
chr2	GH02I085008	85008801	85009400	0.8	[{'connected_gene': 'RPS2P17', 'score': 10.71}, {'connected_gene': 'TRABD2A', 'score': 10.7}, {'connected_gene': 'GC02M085007', 'score': 0.77}, {'connected_gene': 'PIR52578', 'score': 0.77}, {'connected_gene': 'GC02M084958', 'score': 0.44}, {'connected_gene': 'GC02P085016', 'score': 0.44}, {'connected_gene': 'KCMF1', 'score': 0.28}]
chr2	GH02I084989	84989601	84989800	0.2	[{'connected_gene': 'RPS2P17', 'score': 11.02}, {'connected_gene': 'TRABD2A', 'score': 11.01}, {'connected_gene': 'GC02M085007', 'score': 0.39}, {'connected_gene': 'PIR52578', 'score': 0.39}, {'connected_gene': 'KCMF1', 'score': 0.37}, {'connected_gene': 'GC02M084958', 'score': 0.31}]
chr2	GH02I084923	84923802	84927800	1.81	[{'connected_gene': 'LOC105374838', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 4.76}, {'connected_gene': 'KCMF1', 'score': 4.65}, {'connected_gene': 'RPS2P17', 'score': 0.39}]
chr2	GH02I085017	85017201	85019865	0.89	[{'connected_gene': 'GC02M084958', 'score': 550.77}, {'connected_gene': 'GC02P085016', 'score': 550.77}, {'connected_gene': 'KCMF1', 'score': 17.13}, {'connected_gene': 'RPS2P17', 'score': 10.61}, {'connected_gene': 'TRABD2A', 'score': 10.6}, {'connected_gene': 'PIR46561', 'score': 0.25}, {'connected_gene': 'GC02M085069', 'score': 0.25}]
chr2	GH02I085014	85014601	85016200	1.11	[{'connected_gene': 'GC02P085016', 'score': 550.77}, {'connected_gene': 'KCMF1', 'score': 18.41}, {'connected_gene': 'RPS2P17', 'score': 10.67}, {'connected_gene': 'TRABD2A', 'score': 10.66}, {'connected_gene': 'GC02M084958', 'score': 0.77}, {'connected_gene': 'GC02M085007', 'score': 0.39}, {'connected_gene': 'PIR52578', 'score': 0.39}]
chr2	GH02I085003	85003502	85004381	0.8	[{'connected_gene': 'GC02M085007', 'score': 550.77}, {'connected_gene': 'PIR52578', 'score': 550.77}, {'connected_gene': 'KCMF1', 'score': 13.06}, {'connected_gene': 'RPS2P17', 'score': 10.86}, {'connected_gene': 'TRABD2A', 'score': 10.85}, {'connected_gene': 'GC02M084958', 'score': 0.39}]
chr2	GH02I085016	85016801	85017000	0.2	[{'connected_gene': 'GC02M084958', 'score': 550.77}, {'connected_gene': 'GC02P085016', 'score': 550.77}, {'connected_gene': 'KCMF1', 'score': 11.88}, {'connected_gene': 'RPS2P17', 'score': 10.61}, {'connected_gene': 'TRABD2A', 'score': 10.61}]
chr2	GH02I085001	85001201	85001400	0.2	[{'connected_gene': 'GC02M085007', 'score': 0.77}, {'connected_gene': 'PIR52578', 'score': 0.77}, {'connected_gene': 'GC02M084958', 'score': 0.37}, {'connected_gene': 'KCMF1', 'score': 0.29}]
chr2	GH02I085005	85005528	85006799	0.66	[{'connected_gene': 'GC02M085007', 'score': 550.77}, {'connected_gene': 'PIR52578', 'score': 550.77}, {'connected_gene': 'RPS2P17', 'score': 10.71}, {'connected_gene': 'TRABD2A', 'score': 10.71}, {'connected_gene': 'GC02M084958', 'score': 0.39}, {'connected_gene': 'GC02P085016', 'score': 0.39}, {'connected_gene': 'KCMF1', 'score': 0.28}]
chr2	GH02I085006	85005001	85005200	0.2	[{'connected_gene': 'GC02M085007', 'score': 550.77}, {'connected_gene': 'PIR52578', 'score': 550.77}, {'connected_gene': 'RPS2P17', 'score': 10.72}, {'connected_gene': 'TRABD2A', 'score': 10.71}, {'connected_gene': 'GC02M084958', 'score': 0.39}, {'connected_gene': 'GC02P085016', 'score': 0.39}, {'connected_gene': 'KCMF1', 'score': 0.29}]
chr2	GH02I085432	85432571	85440250	1.99	[{'connected_gene': 'GC02P085438', 'score': 550.77}, {'connected_gene': 'ENSG00000207207', 'score': 550.77}, {'connected_gene': 'SH2D6', 'score': 15.09}, {'connected_gene': 'MAT2A', 'score': 12.01}, {'connected_gene': 'CAPG', 'score': 11.3}, {'connected_gene': 'TGOLN2', 'score': 11.08}, {'connected_gene': 'KCMF1', 'score': 2.53}, {'connected_gene': 'RNU7-64P', 'score': 0.44}, {'connected_gene': 'GC02P085363', 'score': 0.19}]