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
ENST00000392827	[[140114706, 140115760], [140115960, 140116033]]	[[140114878, 140115664]]
ENST00000391553	[[140114706, 140115775]]	[[140114878, 140115664]]
NM_031297	[[140114698, 140115775]]	[[140114878, 140115664]]

Promoter

Chrom	Start	End	Description
chr9	140115878	140115908	CAGE_peak_1_at_RNF208_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I137207	137207464	137207648	0.36	[{'connected_gene': 'TMEM203', 'score': 550.77}, {'connected_gene': 'NDOR1', 'score': 550.77}, {'connected_gene': 'SLC34A3', 'score': 6.13}, {'connected_gene': 'FUT7', 'score': 1.52}, {'connected_gene': 'AJM1', 'score': 1.35}, {'connected_gene': 'RNF208', 'score': 0.39}]
chr9	GH09I137516	137516955	137517355	0.73	[{'connected_gene': 'SNHG7', 'score': 16.62}, {'connected_gene': 'EHMT1', 'score': 14.75}, {'connected_gene': 'DPH7', 'score': 10.9}, {'connected_gene': 'EXD3', 'score': 10.38}, {'connected_gene': 'ANAPC2', 'score': 10.25}, {'connected_gene': 'GRIN1', 'score': 5.61}, {'connected_gene': 'RNF208', 'score': 4.79}, {'connected_gene': 'SAPCD2', 'score': 4.72}, {'connected_gene': 'ABCA2', 'score': 4.66}, {'connected_gene': 'PNPLA7', 'score': 4.22}, {'connected_gene': 'CACNA1B', 'score': 4.15}, {'connected_gene': 'ENTPD2', 'score': 1.33}, {'connected_gene': 'PIR51097', 'score': 0.44}, {'connected_gene': 'PIR44519', 'score': 0.39}]
chr9	GH09I137592	137592300	137594296	1.24	[{'connected_gene': 'EHMT1', 'score': 18.6}, {'connected_gene': 'PNPLA7', 'score': 16.31}, {'connected_gene': 'GRIN1', 'score': 2.72}, {'connected_gene': 'RNF208', 'score': 1.81}, {'connected_gene': 'CACNA1B', 'score': 1.72}, {'connected_gene': 'TPRN', 'score': 1.33}, {'connected_gene': 'ZMYND19', 'score': 0.77}, {'connected_gene': 'ARRDC1', 'score': 0.39}, {'connected_gene': 'GC09M137538', 'score': 0.07}]
chr9	GH09I137222	137221363	137221422	0.88	[{'connected_gene': 'RNF208', 'score': 550.77}, {'connected_gene': 'NDOR1', 'score': 0.37}]
chr9	GH09I137221	137221486	137232704	2.85	[{'connected_gene': 'RNF224', 'score': 556.63}, {'connected_gene': 'SLC34A3', 'score': 555.96}, {'connected_gene': 'EHMT1', 'score': 17.44}, {'connected_gene': 'LOC651337', 'score': 15.59}, {'connected_gene': 'SDCCAG3', 'score': 15.1}, {'connected_gene': 'ANAPC2', 'score': 12.28}, {'connected_gene': 'RNF208', 'score': 7.2}, {'connected_gene': 'CYSRT1', 'score': 7.15}, {'connected_gene': 'NDOR1', 'score': 6.77}, {'connected_gene': 'MRPL41', 'score': 5.76}, {'connected_gene': 'GRIN1', 'score': 3.3}, {'connected_gene': 'FBXW5', 'score': 2.93}, {'connected_gene': 'NSMF', 'score': 2.57}, {'connected_gene': 'NPDC1', 'score': 2.53}, {'connected_gene': 'ARRDC1-AS1', 'score': 2.52}, {'connected_gene': 'DPH7', 'score': 1.92}, {'connected_gene': 'TPRN', 'score': 1.77}, {'connected_gene': 'NELFB', 'score': 1.57}, {'connected_gene': 'RABL6', 'score': 1.51}, {'connected_gene': 'ABCA2', 'score': 1.5}, {'connected_gene': 'TMEM203', 'score': 1.43}, {'connected_gene': 'SSNA1', 'score': 1.43}]
chr9	GH09I137518	137518543	137518961	0.76	[{'connected_gene': 'EXD3', 'score': 10.37}, {'connected_gene': 'GRIN1', 'score': 5.38}, {'connected_gene': 'PNPLA7', 'score': 4.73}, {'connected_gene': 'CACNA1B', 'score': 3.03}, {'connected_gene': 'ABCA2', 'score': 2.95}, {'connected_gene': 'RNF208', 'score': 2.69}, {'connected_gene': 'ENTPD2', 'score': 1.5}, {'connected_gene': 'PIR51097', 'score': 0.44}, {'connected_gene': 'PIR44519', 'score': 0.39}]
chr9	GH09I137216	137216433	137220126	1.43	[{'connected_gene': 'NDOR1', 'score': 8.74}, {'connected_gene': 'RNF208', 'score': 7.55}, {'connected_gene': 'CYSRT1', 'score': 6.7}, {'connected_gene': 'NPDC1', 'score': 4.6}]
chr9	GH09I137204	137204085	137207339	2.03	[{'connected_gene': 'NDOR1', 'score': 555.39}, {'connected_gene': 'PIR53478', 'score': 550.77}, {'connected_gene': 'TPRN', 'score': 550.77}, {'connected_gene': 'TMEM203', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 14.44}, {'connected_gene': 'SDCCAG3', 'score': 10.87}, {'connected_gene': 'CYSRT1', 'score': 5.97}, {'connected_gene': 'SLC34A3', 'score': 5.8}, {'connected_gene': 'RNF208', 'score': 4.76}]
chr9	GH09I137380	137380283	137380628	0.24	[{'connected_gene': 'GRIN1', 'score': 3.08}, {'connected_gene': 'RNF208', 'score': 2.57}, {'connected_gene': 'PNPLA7', 'score': 2.47}, {'connected_gene': 'CACNA1B', 'score': 2.27}, {'connected_gene': 'ABCA2', 'score': 1.49}, {'connected_gene': 'PTGDS', 'score': 1.46}, {'connected_gene': 'GC09M137332', 'score': 0.28}, {'connected_gene': 'EXD3', 'score': 0.26}]
chr9	GH09I137233	137233373	137243238	2.65	[{'connected_gene': 'TUBB4B', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 90.39}, {'connected_gene': 'SDCCAG3', 'score': 59.97}, {'connected_gene': 'ANAPC2', 'score': 50.98}, {'connected_gene': 'NDOR1', 'score': 50.56}, {'connected_gene': 'DPH7', 'score': 40.53}, {'connected_gene': 'INPP5E', 'score': 40.02}, {'connected_gene': 'LOC651337', 'score': 36.84}, {'connected_gene': 'MAN1B1', 'score': 26.89}, {'connected_gene': 'SNHG7', 'score': 26.01}, {'connected_gene': 'SEC16A', 'score': 26.0}, {'connected_gene': 'EXD3', 'score': 13.5}, {'connected_gene': 'TRAF2', 'score': 10.75}, {'connected_gene': 'TMEM203', 'score': 10.34}, {'connected_gene': 'RABL6', 'score': 10.31}, {'connected_gene': 'NELFB', 'score': 8.98}, {'connected_gene': 'LCN15', 'score': 8.35}, {'connected_gene': 'ABCA2', 'score': 7.81}, {'connected_gene': 'TOR4A', 'score': 6.36}, {'connected_gene': 'UAP1L1', 'score': 6.25}, {'connected_gene': 'RNF224', 'score': 5.79}, {'connected_gene': 'CYSRT1', 'score': 5.23}, {'connected_gene': 'MRPL41', 'score': 5.19}, {'connected_gene': 'ZMYND19', 'score': 4.53}, {'connected_gene': 'PNPLA7', 'score': 3.77}, {'connected_gene': 'TPRN', 'score': 3.5}, {'connected_gene': 'LCNL1', 'score': 3.04}, {'connected_gene': 'ENTPD8', 'score': 2.25}, {'connected_gene': 'RNF208', 'score': 1.83}, {'connected_gene': 'DPP7', 'score': 1.81}, {'connected_gene': 'GRIN1', 'score': 1.71}, {'connected_gene': 'AJM1', 'score': 1.66}, {'connected_gene': 'NPDC1', 'score': 1.59}, {'connected_gene': 'NOXA1', 'score': 1.58}, {'connected_gene': 'PTGDS', 'score': 1.41}, {'connected_gene': 'ENTPD2', 'score': 1.26}, {'connected_gene': 'NSMF', 'score': 1.23}, {'connected_gene': 'SLC34A3', 'score': 0.44}]