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
ENST00000371443	[[140445650, 140446430], [140446525, 140447007]]	[[140446533, 140446947]]
NM_032477	[[140446308, 140446430], [140446525, 140447007]]	[[140446533, 140446947]]

Promoter

Chrom	Start	End	Description
chr9	140446314	140446398	CAGE_peak_1_at_MRPL41_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr9	GH09I137577	137577242	137579657	2.06	[{'connected_gene': 'DPH7', 'score': 577.26}, {'connected_gene': 'EHMT1', 'score': 60.19}, {'connected_gene': 'LOC651337', 'score': 27.39}, {'connected_gene': 'ANAPC2', 'score': 27.33}, {'connected_gene': 'EXD3', 'score': 14.57}, {'connected_gene': 'NDOR1', 'score': 13.11}, {'connected_gene': 'MAN1B1', 'score': 12.5}, {'connected_gene': 'ARRDC1-AS1', 'score': 11.99}, {'connected_gene': 'SNHG7', 'score': 10.08}, {'connected_gene': 'MRPL41', 'score': 0.31}, {'connected_gene': 'GC09M137538', 'score': 0.07}]
chr9	GH09I137604	137604599	137609309	2.16	[{'connected_gene': 'ARRDC1', 'score': 550.77}, {'connected_gene': 'ENSG00000283411', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 16.59}, {'connected_gene': 'ZMYND19', 'score': 7.83}, {'connected_gene': 'MRPL41', 'score': 5.26}, {'connected_gene': 'ARRDC1-AS1', 'score': 0.39}, {'connected_gene': 'GC09M137538', 'score': 0.08}]
chr9	GH09I137575	137575063	137576471	0.7	[{'connected_gene': 'EHMT1', 'score': 16.51}, {'connected_gene': 'DPH7', 'score': 0.77}, {'connected_gene': 'MRPL41', 'score': 0.34}, {'connected_gene': 'GC09M137538', 'score': 0.07}]
chr9	GH09I137756	137756446	137764461	1.48	[{'connected_gene': 'EHMT1', 'score': 17.86}, {'connected_gene': 'LOC651337', 'score': 9.07}, {'connected_gene': 'PNPLA7', 'score': 6.32}, {'connected_gene': 'ARRDC1', 'score': 6.18}, {'connected_gene': 'MRPL41', 'score': 4.29}, {'connected_gene': 'GC09P137764', 'score': 0.77}, {'connected_gene': 'GC09M137538', 'score': 0.22}, {'connected_gene': 'SETP5', 'score': 0.13}]
chr9	GH09I137555	137555713	137557050	0.54	[{'connected_gene': 'EHMT1', 'score': 21.78}, {'connected_gene': 'MRPL41', 'score': 0.44}, {'connected_gene': 'DPH7', 'score': 0.34}, {'connected_gene': 'GC09M137538', 'score': 0.07}]
chr9	GH09I137569	137569192	137569567	0.51	[{'connected_gene': 'EHMT1', 'score': 17.92}, {'connected_gene': 'FAM166A', 'score': 3.75}, {'connected_gene': 'STPG3', 'score': 3.39}, {'connected_gene': 'DPH7', 'score': 0.44}, {'connected_gene': 'MRPL41', 'score': 0.37}, {'connected_gene': 'GC09M137538', 'score': 0.07}]
chr17	GH17I050340	50339785	50340615	0.2	[{'connected_gene': 'MRPL27', 'score': 11.3}, {'connected_gene': 'EME1', 'score': 11.3}, {'connected_gene': 'XYLT2', 'score': 10.4}, {'connected_gene': 'HILS1', 'score': 9.95}, {'connected_gene': 'SGCA', 'score': 9.94}, {'connected_gene': 'ENSG00000253730', 'score': 9.94}, {'connected_gene': 'TMEM92-AS1', 'score': 0.23}]
chr17	GH17I050371	50371247	50373990	2.12	[{'connected_gene': 'MRPL27', 'score': 560.94}, {'connected_gene': 'EME1', 'score': 558.05}, {'connected_gene': 'ENSG00000262837', 'score': 36.81}, {'connected_gene': 'LUC7L3', 'score': 28.29}, {'connected_gene': 'MBTD1', 'score': 23.53}, {'connected_gene': 'CACNA1G-AS1', 'score': 21.8}, {'connected_gene': 'KAT7', 'score': 14.66}, {'connected_gene': 'FLJ45513', 'score': 13.7}, {'connected_gene': 'FAM117A', 'score': 12.96}, {'connected_gene': 'TAC4', 'score': 11.18}, {'connected_gene': 'XYLT2', 'score': 10.45}, {'connected_gene': 'ENSG00000250751', 'score': 10.16}, {'connected_gene': 'SAMD14', 'score': 9.75}, {'connected_gene': 'NXPH3', 'score': 9.75}, {'connected_gene': 'GC17M050368', 'score': 0.44}, {'connected_gene': 'PIR36688', 'score': 0.44}]
chr17	GH17I050339	50339155	50339731	0.31	[{'connected_gene': 'MRPL27', 'score': 11.53}, {'connected_gene': 'EME1', 'score': 11.53}, {'connected_gene': 'COL1A1', 'score': 10.8}, {'connected_gene': 'ACSF2', 'score': 10.34}, {'connected_gene': 'CHAD', 'score': 10.29}, {'connected_gene': 'HILS1', 'score': 9.95}, {'connected_gene': 'SGCA', 'score': 9.94}, {'connected_gene': 'ENSG00000253730', 'score': 9.94}, {'connected_gene': 'XYLT2', 'score': 0.44}, {'connected_gene': 'TMEM92-AS1', 'score': 0.23}]
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}]
chr17	GH17I050344	50344911	50347872	2.18	[{'connected_gene': 'XYLT2', 'score': 560.73}, {'connected_gene': 'CACNA1G-AS1', 'score': 13.14}, {'connected_gene': 'LUC7L3', 'score': 12.21}, {'connected_gene': 'LOC105371824', 'score': 11.8}, {'connected_gene': 'MYCBPAP', 'score': 11.25}, {'connected_gene': 'ENSG00000253102', 'score': 10.78}, {'connected_gene': 'MBTD1', 'score': 9.89}, {'connected_gene': 'SAMD14', 'score': 9.76}, {'connected_gene': 'MRPL27', 'score': 7.78}, {'connected_gene': 'PIR48275', 'score': 0.77}]
chr9	GH09I137549	137549511	137552944	2.04	[{'connected_gene': 'PNPLA7', 'score': 576.94}, {'connected_gene': 'MRPL41', 'score': 559.2}, {'connected_gene': 'ZMYND19', 'score': 7.27}, {'connected_gene': 'DPH7', 'score': 0.31}, {'connected_gene': 'GC09M137538', 'score': 0.06}]
chr17	GH17I050938	50938701	50940941	0.84	[{'connected_gene': 'LOC105371824', 'score': 20.8}, {'connected_gene': 'LUC7L3', 'score': 20.63}, {'connected_gene': 'ENSG00000251665', 'score': 14.67}, {'connected_gene': 'PICART1', 'score': 12.61}, {'connected_gene': 'ENSG00000247011', 'score': 11.71}, {'connected_gene': 'MBTD1', 'score': 11.24}, {'connected_gene': 'MRPL27', 'score': 10.76}, {'connected_gene': 'ENSG00000262006', 'score': 0.31}]
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}]
chr17	GH17I050364	50364228	50365024	0.72	[{'connected_gene': 'ENSG00000279792', 'score': 550.77}, {'connected_gene': 'MRPL27', 'score': 10.61}, {'connected_gene': 'GC17P050358', 'score': 0.44}]