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
ENST00000587423	[[416582, 417322], [418922, 419879]]	None
ENST00000588376	[[416582, 417322], [418922, 419056], [422145, 422828]]	None
ENST00000264554	[[416582, 417322], [418922, 419056], [422145, 422456], [425096, 425231], [430683, 430747], [434708, 434865], [436164, 436291], [436379, 436431], [436629, 436683], [438717, 438837], [438969, 439030], [440861, 440932], [460528, 460996]]	[[418927, 419056], [422145, 422456], [425096, 425231], [430683, 430747], [434708, 434865], [436164, 436291], [436379, 436431], [436629, 436683], [438717, 438837], [438969, 439030], [440861, 440932], [460528, 460996]]
ENST00000589922	[[416608, 417322], [418922, 419056], [422145, 422456], [425096, 425231], [430683, 430747], [434708, 434865], [436164, 436291], [436379, 436683], [438717, 438837], [438969, 439030], [440861, 441384]]	None
ENST00000590170	[[417199, 417322], [418922, 419056], [422145, 422379], [430683, 430747], [434708, 434865], [436164, 436258]]	[[434761, 434865], [436164, 436258]]
ENST00000590222	[[434701, 434865], [436164, 436291], [436379, 436431], [436629, 436683], [438717, 438837], [438969, 439030], [439232, 439491], [440861, 440932], [460528, 460571]]	[[439397, 439491], [440861, 440932], [460528, 460571]]
ENST00000591388	[[435770, 435961], [436164, 436291], [436379, 436534]]	[[435945, 435961], [436164, 436291], [436379, 436534]]
ENST00000590113	[[435770, 435961], [436164, 436291], [436379, 436431], [436629, 436683], [438717, 438837], [438969, 439030]]	[[435945, 435961], [436164, 436291], [436379, 436431], [436629, 436683], [438717, 438837], [438969, 439030]]
NM_012435	[[416582, 417322], [418922, 419056], [422145, 422456], [425096, 425231], [430683, 430747], [434708, 434865], [436164, 436291], [436379, 436431], [436629, 436683], [438717, 438837], [438969, 439030], [440861, 440932], [460528, 460996]]	[[418927, 419056], [422145, 422456], [425096, 425231], [430683, 430747], [434708, 434865], [436164, 436291], [436379, 436431], [436629, 436683], [438717, 438837], [438969, 439030], [440861, 440932], [460528, 460996]]

Promoter

Chrom	Start	End	Description
chr19	461007	461058	CAGE_peak_1_at_SHC2_5end
chr19	461059	461071	CAGE_peak_2_at_SHC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I000493	493027	496630	1.63	[{'connected_gene': 'MADCAM1', 'score': 554.98}, {'connected_gene': 'TMEM259', 'score': 26.36}, {'connected_gene': 'PTBP1', 'score': 24.57}, {'connected_gene': 'DAZAP1', 'score': 24.32}, {'connected_gene': 'CIRBP', 'score': 21.68}, {'connected_gene': 'MED16', 'score': 18.75}, {'connected_gene': 'LOC105372232', 'score': 13.87}, {'connected_gene': 'ENSG00000267317', 'score': 13.85}, {'connected_gene': 'SHC2', 'score': 13.25}, {'connected_gene': 'MIER2', 'score': 12.14}, {'connected_gene': 'RPS15', 'score': 11.52}, {'connected_gene': 'GRIN3B', 'score': 10.88}, {'connected_gene': 'POLRMT', 'score': 9.95}, {'connected_gene': 'TPGS1', 'score': 0.39}]
chr19	GH19I000487	487477	490210	2.02	[{'connected_gene': 'MADCAM1', 'score': 562.85}, {'connected_gene': 'DAZAP1', 'score': 16.4}, {'connected_gene': 'TMEM259', 'score': 15.98}, {'connected_gene': 'SHC2', 'score': 14.27}, {'connected_gene': 'LOC105372232', 'score': 13.84}, {'connected_gene': 'MIER2', 'score': 12.52}, {'connected_gene': 'PTBP1', 'score': 11.95}, {'connected_gene': 'MED16', 'score': 11.43}, {'connected_gene': 'ENSG00000267317', 'score': 11.29}, {'connected_gene': 'RNF126', 'score': 10.6}, {'connected_gene': 'GRIN3B', 'score': 10.52}, {'connected_gene': 'ODF3L2', 'score': 0.39}]
chr19	GH19I000718	718162	721226	1.51	[{'connected_gene': 'HCN2', 'score': 14.1}, {'connected_gene': 'PALM', 'score': 13.87}, {'connected_gene': 'FGF22', 'score': 10.73}, {'connected_gene': 'SHC2', 'score': 4.96}, {'connected_gene': 'C2CD4C', 'score': 2.59}, {'connected_gene': 'GC19M000724', 'score': 0.37}]
chr19	GH19I000528	528084	529112	0.77	[{'connected_gene': 'POLRMT', 'score': 11.19}, {'connected_gene': 'FGF22', 'score': 11.19}, {'connected_gene': 'CDC34', 'score': 7.44}, {'connected_gene': 'GZMM', 'score': 6.34}, {'connected_gene': 'SHC2', 'score': 5.39}, {'connected_gene': 'MIER2', 'score': 5.19}, {'connected_gene': 'LOC105372232', 'score': 0.34}]
chr19	GH19I000417	417243	418286	0.38	[{'connected_gene': 'THEG', 'score': 11.62}, {'connected_gene': 'SHC2', 'score': 8.14}, {'connected_gene': 'C2CD4C', 'score': 6.16}, {'connected_gene': 'LOC101928450', 'score': 5.62}, {'connected_gene': 'PIR44542', 'score': 0.44}, {'connected_gene': 'PIR54633', 'score': 0.39}]
chr19	GH19I000474	474973	475032	0.61	[{'connected_gene': 'ODF3L2', 'score': 550.77}, {'connected_gene': 'SHC2', 'score': 8.56}, {'connected_gene': 'MADCAM1', 'score': 0.39}]
chr19	GH19I000437	437457	437640	0.33	[{'connected_gene': 'FGF22', 'score': 4.54}, {'connected_gene': 'HCN2', 'score': 3.32}, {'connected_gene': 'PALM', 'score': 2.28}, {'connected_gene': 'SHC2', 'score': 1.98}, {'connected_gene': 'PIR54633', 'score': 0.44}, {'connected_gene': 'PIR58364', 'score': 0.39}]
chr19	GH19I000459	459441	462745	1.98	[{'connected_gene': 'SHC2', 'score': 579.9}, {'connected_gene': 'C19orf24', 'score': 12.89}, {'connected_gene': 'ODF3L2', 'score': 0.39}]
chr19	GH19I000485	485223	486496	1.25	[{'connected_gene': 'SHC2', 'score': 15.26}, {'connected_gene': 'FGF22', 'score': 9.49}, {'connected_gene': 'HCN2', 'score': 7.88}, {'connected_gene': 'MADCAM1', 'score': 6.78}, {'connected_gene': 'PALM', 'score': 3.71}, {'connected_gene': 'C2CD4C', 'score': 1.3}, {'connected_gene': 'ODF3L2', 'score': 0.39}]
chr19	GH19I000481	481673	481793	0.38	[{'connected_gene': 'SHC2', 'score': 11.51}, {'connected_gene': 'FGF22', 'score': 4.65}, {'connected_gene': 'HCN2', 'score': 4.24}, {'connected_gene': 'PALM', 'score': 1.44}, {'connected_gene': 'MADCAM1', 'score': 0.44}, {'connected_gene': 'ODF3L2', 'score': 0.44}]
chr19	GH19I000441	441805	442098	0.51	[{'connected_gene': 'SHC2', 'score': 5.19}, {'connected_gene': 'FGF22', 'score': 4.79}, {'connected_gene': 'HCN2', 'score': 4.14}, {'connected_gene': 'PALM', 'score': 2.66}, {'connected_gene': 'C2CD4C', 'score': 1.89}, {'connected_gene': 'ODF3L2', 'score': 1.61}, {'connected_gene': 'PIR58364', 'score': 0.44}, {'connected_gene': 'PIR54633', 'score': 0.39}]
chr19	GH19I001130	1130371	1134697	2.37	[{'connected_gene': 'SBNO2', 'score': 580.39}, {'connected_gene': 'MIDN', 'score': 13.46}, {'connected_gene': 'ARHGAP45', 'score': 5.66}, {'connected_gene': 'POLR2E', 'score': 5.18}, {'connected_gene': 'SHC2', 'score': 4.93}, {'connected_gene': 'R3HDM4', 'score': 4.41}, {'connected_gene': 'ABCA7', 'score': 3.2}, {'connected_gene': 'ARID3A', 'score': 1.45}, {'connected_gene': 'CIRBP', 'score': 1.31}, {'connected_gene': 'TMEM259', 'score': 1.27}, {'connected_gene': 'GC19M001134', 'score': 0.44}, {'connected_gene': 'GC19P001106', 'score': 0.31}]
chr19	GH19I000447	447441	448977	0.31	[{'connected_gene': 'C2CD4C', 'score': 7.83}, {'connected_gene': 'PIR58364', 'score': 0.77}, {'connected_gene': 'SHC2', 'score': 0.39}, {'connected_gene': 'PIR54633', 'score': 0.37}]
chr19	GH19I000385	384369	384669	0.42	[{'connected_gene': 'GC19P000388', 'score': 550.77}, {'connected_gene': 'C2CD4C', 'score': 4.39}, {'connected_gene': 'MIER2', 'score': 1.53}, {'connected_gene': 'SHC2', 'score': 1.4}, {'connected_gene': 'GC19M000365', 'score': 0.44}]