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
ENST00000483871	[[42086567, 42086780], [42087000, 42087149], [42087792, 42088060], [42088410, 42088535], [42088672, 42088881], [42089154, 42089238], [42089342, 42089974]]	[[42086673, 42086780], [42087000, 42087149], [42087792, 42087944]]
ENST00000244020	[[42086567, 42086780], [42087000, 42087149], [42088410, 42088535], [42088672, 42088881], [42089154, 42089238], [42089342, 42092245]]	[[42086673, 42086780], [42087000, 42087149], [42088410, 42088535], [42088672, 42088881], [42089154, 42089238], [42089342, 42089703]]
NM_006275	[[42086503, 42086780], [42087000, 42087149], [42088410, 42088535], [42088672, 42088881], [42089154, 42089238], [42089342, 42092245]]	[[42086673, 42086780], [42087000, 42087149], [42088410, 42088535], [42088672, 42088881], [42089154, 42089238], [42089342, 42089703]]
NR_034009	[[42086503, 42086780], [42087000, 42087149], [42087792, 42088060], [42088410, 42088535], [42088672, 42088881], [42089154, 42089238], [42089342, 42092245]]	None

Promoter

Chrom	Start	End	Description
chr20	42086501	42086509	CAGE_peak_3_at_SRSF6_5end
chr20	42086516	42086519	CAGE_peak_4_at_SRSF6_5end
chr20	42086525	42086548	CAGE_peak_1_at_SRSF6_5end
chr20	42090013	42090018	CAGE_peak_2_at_SRSF6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I043914	43914400	43916834	2.02	[{'connected_gene': 'TOX2', 'score': 587.48}, {'connected_gene': 'SRSF6', 'score': 15.38}, {'connected_gene': 'RN7SL443P', 'score': 0.16}]
chr20	GH20I043849	43849139	43850813	1.01	[{'connected_gene': 'TOX2', 'score': 21.89}, {'connected_gene': 'SRSF6', 'score': 15.78}, {'connected_gene': 'LOC105372625', 'score': 0.31}, {'connected_gene': 'LINC01728', 'score': 0.26}]
chr20	GH20I044089	44089951	44090381	1.18	[{'connected_gene': 'SRSF6', 'score': 11.58}, {'connected_gene': 'MYBL2', 'score': 10.09}, {'connected_gene': 'SGK2', 'score': 9.88}, {'connected_gene': 'JPH2', 'score': 5.9}, {'connected_gene': 'GC20P044130', 'score': 0.26}, {'connected_gene': 'RN7SL443P', 'score': 0.18}]
chr20	GH20I043456	43456506	43459926	2.51	[{'connected_gene': 'SRSF6', 'score': 588.56}, {'connected_gene': 'L3MBTL1', 'score': 28.38}, {'connected_gene': 'IFT52', 'score': 10.39}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'GC20P043474', 'score': 0.39}]
chr20	GH20I043096	43096188	43097546	0.38	[{'connected_gene': 'SRSF6', 'score': 14.75}, {'connected_gene': 'GC20P043105', 'score': 0.44}, {'connected_gene': 'GC20P043084', 'score': 0.39}, {'connected_gene': 'PTPRT', 'score': 0.16}]
chr20	GH20I043457	43456301	43456470	0.56	[{'connected_gene': 'SRSF6', 'score': 550.77}, {'connected_gene': 'ENSG00000206998', 'score': 0.44}, {'connected_gene': 'GC20M043452', 'score': 0.44}]
chr20	GH20I044173	44173956	44189616	2.62	[{'connected_gene': 'JPH2', 'score': 569.71}, {'connected_gene': 'SRSF6', 'score': 67.97}, {'connected_gene': 'OSER1', 'score': 30.83}, {'connected_gene': 'L3MBTL1', 'score': 20.83}, {'connected_gene': 'FITM2', 'score': 13.17}, {'connected_gene': 'IFT52', 'score': 10.92}, {'connected_gene': 'SGK2', 'score': 9.84}, {'connected_gene': 'OSER1-AS1', 'score': 7.55}, {'connected_gene': 'GC20P044130', 'score': 0.23}]
chr20	GH20I044216	44216999	44220678	1.5	[{'connected_gene': 'OSER1', 'score': 18.48}, {'connected_gene': 'SRSF6', 'score': 15.96}, {'connected_gene': 'FITM2', 'score': 12.31}, {'connected_gene': 'LINC01620', 'score': 10.54}, {'connected_gene': 'LINC01430', 'score': 10.54}, {'connected_gene': 'OSER1-AS1', 'score': 9.87}, {'connected_gene': 'JPH2', 'score': 4.6}, {'connected_gene': 'GDAP1L1', 'score': 0.31}]
chr20	GH20I044206	44206836	44212942	2.33	[{'connected_gene': 'OSER1', 'score': 570.29}, {'connected_gene': 'OSER1-AS1', 'score': 566.22}, {'connected_gene': 'SRSF6', 'score': 22.04}, {'connected_gene': 'FITM2', 'score': 12.3}, {'connected_gene': 'L3MBTL1', 'score': 11.73}, {'connected_gene': 'KCNK15', 'score': 11.53}, {'connected_gene': 'IFT52', 'score': 11.19}, {'connected_gene': 'WISP2', 'score': 10.49}, {'connected_gene': 'JPH2', 'score': 0.34}]
chr20	GH20I043589	43589810	43591789	2.05	[{'connected_gene': 'IFT52', 'score': 574.59}, {'connected_gene': 'ENSG00000282876', 'score': 550.77}, {'connected_gene': 'MYBL2', 'score': 16.09}, {'connected_gene': 'SRSF6', 'score': 14.81}, {'connected_gene': 'GC20P043584', 'score': 0.44}, {'connected_gene': 'RPL27AP', 'score': 0.21}]
chr20	GH20I043666	43666187	43668243	1.97	[{'connected_gene': 'MYBL2', 'score': 571.46}, {'connected_gene': 'IFT52', 'score': 24.01}, {'connected_gene': 'SRSF6', 'score': 10.25}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'GC20M043632', 'score': 0.29}]
chr20	GH20I044421	44421928	44437121	1.17	[{'connected_gene': 'HNF4A', 'score': 20.02}, {'connected_gene': 'SRSF6', 'score': 14.72}, {'connected_gene': 'LOC105372629', 'score': 11.63}, {'connected_gene': 'FITM2', 'score': 11.43}, {'connected_gene': 'LINC01620', 'score': 11.28}, {'connected_gene': 'LINC01430', 'score': 11.28}, {'connected_gene': 'PKIG', 'score': 10.53}, {'connected_gene': 'MIR3646', 'score': 0.34}]
chr20	GH20I044397	44397855	44420654	1.96	[{'connected_gene': 'HNF4A', 'score': 558.71}, {'connected_gene': 'MIR3646', 'score': 550.77}, {'connected_gene': 'SRSF6', 'score': 14.72}, {'connected_gene': 'FITM2', 'score': 10.64}, {'connected_gene': 'LINC01620', 'score': 10.32}, {'connected_gene': 'LINC01430', 'score': 10.32}, {'connected_gene': 'SDC4', 'score': 9.84}, {'connected_gene': 'OSER1-AS1', 'score': 4.97}]
chr20	GH20I043507	43507581	43508990	1.89	[{'connected_gene': 'L3MBTL1', 'score': 550.77}, {'connected_gene': 'SRSF6', 'score': 15.57}, {'connected_gene': 'GC20M043507', 'score': 0.37}, {'connected_gene': 'ENSG00000234271', 'score': 0.37}]
chr20	GH20I043555	43555534	43561695	1.92	[{'connected_gene': 'SGK2', 'score': 557.11}, {'connected_gene': 'IFT52', 'score': 11.38}, {'connected_gene': 'SRSF6', 'score': 10.41}, {'connected_gene': 'RNU6-1251P', 'score': 10.22}, {'connected_gene': 'ENSG00000226143', 'score': 0.44}, {'connected_gene': 'ENSG00000277611', 'score': 0.37}]
chr20	GH20I044350	44350562	44358613	1.66	[{'connected_gene': 'LOC105372629', 'score': 561.32}, {'connected_gene': 'GC20P044356', 'score': 550.77}, {'connected_gene': 'HNF4A', 'score': 550.77}, {'connected_gene': 'SRSF6', 'score': 57.31}, {'connected_gene': 'L3MBTL1', 'score': 12.78}, {'connected_gene': 'IFT52', 'score': 10.3}, {'connected_gene': 'OSER1', 'score': 7.84}, {'connected_gene': 'OSER1-AS1', 'score': 5.95}, {'connected_gene': 'MYBL2', 'score': 4.53}, {'connected_gene': 'ENSG00000201363', 'score': 0.44}, {'connected_gene': 'R3HDML', 'score': 0.37}]
chr20	GH20I043583	43583256	43585856	1.14	[{'connected_gene': 'GC20P043584', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 24.25}, {'connected_gene': 'MYBL2', 'score': 14.49}, {'connected_gene': 'SRSF6', 'score': 11.67}, {'connected_gene': 'SGK2', 'score': 0.31}]
chr20	GH20I043656	43656299	43659059	1.63	[{'connected_gene': 'GC20P043655', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 28.09}, {'connected_gene': 'MYBL2', 'score': 18.22}, {'connected_gene': 'OSER1', 'score': 18.07}, {'connected_gene': 'SRSF6', 'score': 13.2}, {'connected_gene': 'SGK2', 'score': 10.26}, {'connected_gene': 'L3MBTL1', 'score': 2.82}, {'connected_gene': 'GC20M043632', 'score': 0.26}]