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
ENST00000563869	[[2039660, 2039832], [2041974, 2042212], [2042636, 2042779], [2042863, 2043170]]	[[2039801, 2039832], [2041974, 2042212], [2042636, 2042779], [2042863, 2043170]]
ENST00000248121	[[2039945, 2040202], [2041974, 2042212], [2042636, 2042779], [2042863, 2044276]]	[[2040103, 2040202], [2041974, 2042212], [2042636, 2042779], [2042863, 2043073]]
ENST00000568896	[[2040157, 2040202], [2040499, 2040673], [2041974, 2042212], [2042636, 2042712]]	[[2040157, 2040202], [2040499, 2040673], [2041974, 2042212], [2042636, 2042712]]
ENST00000562045	[[2041124, 2042212], [2042636, 2042779], [2042863, 2043375]]	[[2042140, 2042212], [2042636, 2042779], [2042863, 2042879]]
ENST00000564642	[[2042463, 2042779], [2042863, 2043299]]	None
NM_004209	[[2039945, 2040202], [2041974, 2042212], [2042636, 2042779], [2042863, 2044276]]	[[2040103, 2040202], [2041974, 2042212], [2042636, 2042779], [2042863, 2043073]]

Promoter

Chrom	Start	End	Description
chr16	2039950	2040017	CAGE_peak_1_at_SYNGR3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I002022	2022442	2024771	1.39	[{'connected_gene': 'SLC9A3R2', 'score': 550.77}, {'connected_gene': 'TELO2', 'score': 17.59}, {'connected_gene': 'IFT140', 'score': 17.11}, {'connected_gene': 'CRAMP1', 'score': 16.62}, {'connected_gene': 'TSC2', 'score': 16.34}, {'connected_gene': 'ERVK13-1', 'score': 16.22}, {'connected_gene': 'SNHG19', 'score': 15.65}, {'connected_gene': 'NUBP2', 'score': 15.26}, {'connected_gene': 'E4F1', 'score': 14.32}, {'connected_gene': 'ENSG00000260447', 'score': 14.02}, {'connected_gene': 'ENSG00000260051', 'score': 13.66}, {'connected_gene': 'ENSG00000261505', 'score': 13.34}, {'connected_gene': 'NME3', 'score': 11.58}, {'connected_gene': 'UNKL', 'score': 11.03}, {'connected_gene': 'ENSG00000261207', 'score': 10.74}, {'connected_gene': 'SNORD60', 'score': 10.35}, {'connected_gene': 'CLCN7', 'score': 10.35}, {'connected_gene': 'UBE2I', 'score': 10.34}, {'connected_gene': 'ENSG00000260954', 'score': 10.14}, {'connected_gene': 'ENSG00000260646', 'score': 9.87}, {'connected_gene': 'ENSG00000255513', 'score': 6.24}, {'connected_gene': 'BRICD5', 'score': 5.56}, {'connected_gene': 'SYNGR3', 'score': 5.38}, {'connected_gene': 'RN7SL219P', 'score': 0.39}]
chr16	GH16I002032	2032126	2044914	1.92	[{'connected_gene': 'SLC9A3R2', 'score': 550.39}, {'connected_gene': 'PKD1', 'score': 16.71}, {'connected_gene': 'RAB26', 'score': 12.8}, {'connected_gene': 'TRAF7', 'score': 12.78}, {'connected_gene': 'SNORD60', 'score': 12.78}, {'connected_gene': 'SYNGR3', 'score': 12.23}, {'connected_gene': 'ENSG00000255513', 'score': 8.4}, {'connected_gene': 'BRICD5', 'score': 6.96}, {'connected_gene': 'JPT2', 'score': 5.88}, {'connected_gene': 'HAGH', 'score': 5.24}, {'connected_gene': 'ENSG00000261123', 'score': 5.0}, {'connected_gene': 'GC16M002077', 'score': 0.77}, {'connected_gene': 'NTHL1', 'score': 0.44}, {'connected_gene': 'GC16M002068', 'score': 0.44}]
chr16	GH16I001989	1989800	1994166	2.23	[{'connected_gene': 'SYNGR3', 'score': 550.77}, {'connected_gene': 'ENSG00000261790', 'score': 550.77}, {'connected_gene': 'ENSG00000255513', 'score': 10.86}, {'connected_gene': 'GFER', 'score': 9.75}, {'connected_gene': 'ZNF598', 'score': 8.11}, {'connected_gene': 'MAPK8IP3', 'score': 4.33}, {'connected_gene': 'SPSB3', 'score': 1.95}, {'connected_gene': 'EME2', 'score': 1.32}, {'connected_gene': 'ENSG00000260107', 'score': 0.44}]
chr16	GH16I001990	1989460	1989469	0.72	[{'connected_gene': 'SYNGR3', 'score': 550.77}, {'connected_gene': 'ENSG00000261790', 'score': 550.77}, {'connected_gene': 'NOXO1', 'score': 0.44}]
chr16	GH16I001863	1863820	1863969	0.62	[{'connected_gene': 'HS3ST6', 'score': 12.47}, {'connected_gene': 'MEIOB', 'score': 12.45}, {'connected_gene': 'MSRB1', 'score': 12.2}, {'connected_gene': 'RPL3L', 'score': 12.18}, {'connected_gene': 'NDUFB10', 'score': 12.17}, {'connected_gene': 'SYNGR3', 'score': 10.5}, {'connected_gene': 'LOC102723890', 'score': 0.44}, {'connected_gene': 'GC16M001851', 'score': 0.44}]
chr16	GH16I001982	1982829	1986144	2.24	[{'connected_gene': 'GFER', 'score': 563.94}, {'connected_gene': 'NOXO1', 'score': 550.77}, {'connected_gene': 'ENSG00000255513', 'score': 18.63}, {'connected_gene': 'ENSG00000261505', 'score': 14.77}, {'connected_gene': 'SRRM2', 'score': 13.26}, {'connected_gene': 'LOC105371055', 'score': 12.95}, {'connected_gene': 'UBE2I', 'score': 11.86}, {'connected_gene': 'ENSG00000260954', 'score': 11.49}, {'connected_gene': 'TRAF7', 'score': 10.62}, {'connected_gene': 'ENSG00000260051', 'score': 10.61}, {'connected_gene': 'TBL3', 'score': 10.6}, {'connected_gene': 'SNORD60', 'score': 10.41}, {'connected_gene': 'ZNF598', 'score': 10.36}, {'connected_gene': 'SNORA64', 'score': 10.3}, {'connected_gene': 'SNHG19', 'score': 10.2}, {'connected_gene': 'AMDHD2', 'score': 9.77}, {'connected_gene': 'NPW', 'score': 8.38}, {'connected_gene': 'SYNGR3', 'score': 5.69}, {'connected_gene': 'ENSG00000261790', 'score': 0.44}]
chr16	GH16I001966	1966807	1966866	0.61	[{'connected_gene': 'RNF151', 'score': 550.77}, {'connected_gene': 'GC16P002197', 'score': 550.77}, {'connected_gene': 'SNHG9', 'score': 550.77}, {'connected_gene': 'RPS2', 'score': 550.77}, {'connected_gene': 'SNORA78', 'score': 550.77}, {'connected_gene': 'GC16P001995', 'score': 550.77}, {'connected_gene': 'SYNGR3', 'score': 12.51}, {'connected_gene': 'ENSG00000277602', 'score': 0.44}]
chr16	GH16I001997	1997099	1999245	0.63	[{'connected_gene': 'ENSG00000260107', 'score': 550.77}, {'connected_gene': 'ZNF598', 'score': 12.28}, {'connected_gene': 'ENSG00000255513', 'score': 9.77}, {'connected_gene': 'NPW', 'score': 8.79}, {'connected_gene': 'SYNGR3', 'score': 7.18}, {'connected_gene': 'GFER', 'score': 5.75}]
chr16	GH16I001962	1962180	1966263	2.29	[{'connected_gene': 'ENSG00000255513', 'score': 650.83}, {'connected_gene': 'SNORA64', 'score': 601.02}, {'connected_gene': 'SNHG9', 'score': 593.77}, {'connected_gene': 'RPS2', 'score': 556.73}, {'connected_gene': 'GC16P002197', 'score': 550.77}, {'connected_gene': 'GC16M001963', 'score': 550.77}, {'connected_gene': 'SNORA78', 'score': 550.77}, {'connected_gene': 'GC16P001995', 'score': 550.77}, {'connected_gene': 'GC16P002209', 'score': 550.77}, {'connected_gene': 'GC16M001962', 'score': 550.77}, {'connected_gene': 'GC16M001965', 'score': 550.77}, {'connected_gene': 'GC16M001966', 'score': 550.77}, {'connected_gene': 'SNORA10', 'score': 550.77}, {'connected_gene': 'ENSG00000261505', 'score': 81.99}, {'connected_gene': 'ENSG00000260051', 'score': 60.43}, {'connected_gene': 'SRRM2', 'score': 58.65}, {'connected_gene': 'TELO2', 'score': 54.03}, {'connected_gene': 'LOC105371055', 'score': 52.3}, {'connected_gene': 'E4F1', 'score': 51.41}, {'connected_gene': 'UNKL', 'score': 45.32}, {'connected_gene': 'TRAF7', 'score': 43.92}, {'connected_gene': 'TSC2', 'score': 43.9}, {'connected_gene': 'ENSG00000260954', 'score': 37.96}, {'connected_gene': 'NUBP2', 'score': 37.52}, {'connected_gene': 'SPSB3', 'score': 36.93}, {'connected_gene': 'ERVK13-1', 'score': 34.17}, {'connected_gene': 'ZNF598', 'score': 33.75}, {'connected_gene': 'CRAMP1', 'score': 33.38}, {'connected_gene': 'AMDHD2', 'score': 32.01}, {'connected_gene': 'UBE2I', 'score': 29.4}, {'connected_gene': 'RPL3L', 'score': 23.82}, {'connected_gene': 'SNORD60', 'score': 23.28}, {'connected_gene': 'IFT140', 'score': 23.0}, {'connected_gene': 'SYNGR3', 'score': 22.83}, {'connected_gene': 'CLCN7', 'score': 20.14}, {'connected_gene': 'LOC106660606', 'score': 19.82}, {'connected_gene': 'TBL3', 'score': 19.63}, {'connected_gene': 'PDPK2P', 'score': 18.41}, {'connected_gene': 'ENSG00000261207', 'score': 11.91}, {'connected_gene': 'LOC105371050', 'score': 11.64}, {'connected_gene': 'ENSG00000260447', 'score': 11.27}, {'connected_gene': 'CCDC154', 'score': 11.2}, {'connected_gene': 'SNHG19', 'score': 10.72}, {'connected_gene': 'NME3', 'score': 10.71}, {'connected_gene': 'LOC652276', 'score': 10.28}, {'connected_gene': 'FLYWCH2', 'score': 10.28}, {'connected_gene': 'ENSG00000269937', 'score': 10.01}, {'connected_gene': 'PRSS30P', 'score': 6.22}, {'connected_gene': 'MLST8', 'score': 6.1}]