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
ENST00000485270	[[82031575, 82033639], [82034275, 82034409], [82034772, 82035235]]	None
ENST00000372213	[[82031575, 82033639], [82034275, 82034409], [82034772, 82034955], [82036131, 82036350], [82039928, 82040072], [82040435, 82040548], [82043671, 82043794], [82045267, 82045345], [82049088, 82049440]]	[[82033536, 82033639], [82034275, 82034409], [82034772, 82034955], [82036131, 82036350], [82039928, 82040072], [82040435, 82040548], [82043671, 82043794], [82045267, 82045345], [82049088, 82049179]]
ENST00000480845	[[82031813, 82031842], [82032195, 82032336], [82033336, 82033639], [82034275, 82034409], [82034772, 82034955]]	None
ENST00000455001	[[82036275, 82036350], [82039928, 82040072], [82040435, 82040548], [82045267, 82045345], [82049088, 82049113]]	[[82036275, 82036350], [82039928, 82040072], [82040435, 82040548], [82045267, 82045345], [82049088, 82049113]]
NM_000429	[[82031575, 82033639], [82034275, 82034409], [82034772, 82034955], [82036131, 82036350], [82039928, 82040072], [82040435, 82040548], [82043671, 82043794], [82045267, 82045345], [82049088, 82049434]]	[[82033536, 82033639], [82034275, 82034409], [82034772, 82034955], [82036131, 82036350], [82039928, 82040072], [82040435, 82040548], [82043671, 82043794], [82045267, 82045345], [82049088, 82049179]]

Promoter

Chrom	Start	End	Description
chr10	82049311	82049330	CAGE_peak_3_at_MAT1A_5end
chr10	82049339	82049366	CAGE_peak_2_at_MAT1A_5end
chr10	82049368	82049379	CAGE_peak_4_at_MAT1A_5end
chr10	82049381	82049384	CAGE_peak_9_at_MAT1A_5end
chr10	82049403	82049420	CAGE_peak_1_at_MAT1A_5end
chr10	82049424	82049425	CAGE_peak_7_at_MAT1A_5end
chr10	82049713	82049728	CAGE_peak_6_at_MAT1A_5end
chr10	82049737	82049754	CAGE_peak_5_at_MAT1A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I080280	80280643	80280883	0.2	[{'connected_gene': 'DYDC2', 'score': 10.72}, {'connected_gene': 'ENSG00000235858', 'score': 8.42}, {'connected_gene': 'GC10M080275', 'score': 0.44}, {'connected_gene': 'PIR36250', 'score': 0.44}, {'connected_gene': 'MAT1A', 'score': 0.44}]
chr10	GH10I080153	80153830	80169233	1.42	[{'connected_gene': 'LINC00857', 'score': 27.82}, {'connected_gene': 'ENSG00000272489', 'score': 20.81}, {'connected_gene': 'MBL1P', 'score': 20.43}, {'connected_gene': 'ANXA11', 'score': 20.16}, {'connected_gene': 'PLAC9', 'score': 14.98}, {'connected_gene': 'MAT1A', 'score': 5.52}, {'connected_gene': 'SFTPD', 'score': 4.64}, {'connected_gene': 'TSPAN14', 'score': 4.41}, {'connected_gene': 'GC10M080155', 'score': 0.44}, {'connected_gene': 'PIR39736', 'score': 0.44}]
chr10	GH10I080289	80289165	80290756	1.63	[{'connected_gene': 'MAT1A', 'score': 550.77}, {'connected_gene': 'MBL1P', 'score': 9.3}, {'connected_gene': 'GC10M080275', 'score': 0.37}, {'connected_gene': 'PIR36250', 'score': 0.37}]
chr10	GH10I080290	80290785	80290934	0.83	[{'connected_gene': 'MAT1A', 'score': 550.77}, {'connected_gene': 'DYDC2', 'score': 10.38}, {'connected_gene': 'DYDC1', 'score': 10.11}, {'connected_gene': 'MBL1P', 'score': 9.29}, {'connected_gene': 'ZNF519P1', 'score': 0.44}]
chr10	GH10I080291	80291045	80291194	0.87	[{'connected_gene': 'MAT1A', 'score': 550.77}, {'connected_gene': 'DYDC2', 'score': 10.14}, {'connected_gene': 'DYDC1', 'score': 10.11}, {'connected_gene': 'ZNF519P1', 'score': 0.44}]
chr10	GH10I080265	80265719	80266994	0.74	[{'connected_gene': 'MAT1A', 'score': 28.47}, {'connected_gene': 'FAM213A', 'score': 10.14}, {'connected_gene': 'DYDC2', 'score': 10.02}, {'connected_gene': 'DYDC1', 'score': 9.99}, {'connected_gene': 'ENSG00000235858', 'score': 5.66}, {'connected_gene': 'PIR41962', 'score': 0.44}, {'connected_gene': 'PIR35729', 'score': 0.39}, {'connected_gene': 'GC10P081682', 'score': 0.39}]
chr10	GH10I080321	80321369	80321514	0.44	[{'connected_gene': 'MAT1A', 'score': 38.0}, {'connected_gene': 'TMEM254', 'score': 1.28}, {'connected_gene': 'ENSG00000235858', 'score': 0.39}, {'connected_gene': 'ZNF519P1', 'score': 0.34}]
chr10	GH10I080222	80222357	80222999	0.65	[{'connected_gene': 'MAT1A', 'score': 10.45}, {'connected_gene': 'ENSG00000235858', 'score': 8.28}, {'connected_gene': 'RPS12P2', 'score': 0.44}, {'connected_gene': 'ENSG00000234382', 'score': 0.39}]
chr10	GH10I080281	80281905	80282054	0.91	[{'connected_gene': 'MAT1A', 'score': 17.97}, {'connected_gene': 'GC10M080275', 'score': 0.44}, {'connected_gene': 'PIR36250', 'score': 0.44}]
chr10	GH10I080656	80656537	80656923	0.33	[{'connected_gene': 'SH2D4B', 'score': 3.96}, {'connected_gene': 'MAT1A', 'score': 3.9}, {'connected_gene': 'LOC105378386', 'score': 0.44}, {'connected_gene': 'GC10M080717', 'score': 0.21}]
chr10	GH10I080192	80192892	80209662	2.67	[{'connected_gene': 'ANXA11', 'score': 559.91}, {'connected_gene': 'MBL1P', 'score': 21.15}, {'connected_gene': 'ENSG00000235858', 'score': 12.0}, {'connected_gene': 'LINC00857', 'score': 10.32}, {'connected_gene': 'ENSG00000272489', 'score': 10.29}, {'connected_gene': 'MAT1A', 'score': 10.17}, {'connected_gene': 'DYDC2', 'score': 8.8}, {'connected_gene': 'PLAC9', 'score': 5.67}, {'connected_gene': 'SH2D4B', 'score': 5.07}, {'connected_gene': 'LOC642361', 'score': 4.35}, {'connected_gene': 'LOC101929574', 'score': 4.33}, {'connected_gene': 'TSPAN14', 'score': 1.23}, {'connected_gene': 'GC10M080155', 'score': 0.25}]
chr10	GH10I080277	80277616	80278475	0.38	[{'connected_gene': 'ANXA11', 'score': 10.38}, {'connected_gene': 'LINC00857', 'score': 10.38}, {'connected_gene': 'DYDC2', 'score': 10.3}, {'connected_gene': 'DYDC1', 'score': 10.28}, {'connected_gene': 'ENSG00000235858', 'score': 9.81}, {'connected_gene': 'GC10M080275', 'score': 0.44}, {'connected_gene': 'PIR36250', 'score': 0.44}, {'connected_gene': 'MAT1A', 'score': 0.39}]
chr10	GH10I080296	80296647	80296664	0.22	[{'connected_gene': 'ZNF519P1', 'score': 550.77}, {'connected_gene': 'DYDC2', 'score': 11.08}, {'connected_gene': 'DYDC1', 'score': 10.01}, {'connected_gene': 'SH2D4B', 'score': 2.62}, {'connected_gene': 'MAT1A', 'score': 0.44}]
chr10	GH10I080272	80272506	80273811	0.96	[{'connected_gene': 'PIR41962', 'score': 550.77}, {'connected_gene': 'GC10M080275', 'score': 550.77}, {'connected_gene': 'PIR36250', 'score': 550.77}, {'connected_gene': 'MBL1P', 'score': 9.33}, {'connected_gene': 'ENSG00000235858', 'score': 8.4}, {'connected_gene': 'MAT1A', 'score': 0.37}]