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
ENST00000597558	[[6426047, 6426166], [6426312, 6426572], [6427113, 6427261], [6427344, 6427512], [6429734, 6429842], [6430019, 6430172], [6432059, 6432215], [6433497, 6433790]]	[[6426399, 6426572], [6427113, 6427261], [6427344, 6427512], [6429734, 6429842], [6430019, 6430172], [6432059, 6432215], [6433497, 6433704]]
ENST00000321510	[[6426049, 6426572], [6427113, 6427261], [6427344, 6427512], [6429734, 6429842], [6430019, 6430172], [6432059, 6432215], [6433497, 6433773]]	[[6426399, 6426572], [6427113, 6427261], [6427344, 6427512], [6429734, 6429842], [6430019, 6430172], [6432059, 6432215], [6433497, 6433704]]
ENST00000458275	[[6426049, 6426572], [6427113, 6427261], [6427344, 6427512], [6429734, 6429842], [6430019, 6430172], [6430531, 6430629], [6432059, 6432215], [6433497, 6433773]]	[[6427505, 6427512], [6429734, 6429842], [6430019, 6430172], [6430531, 6430629], [6432059, 6432215], [6433497, 6433704]]
NM_001321298	[[6426047, 6426572], [6427113, 6427261], [6427344, 6427512], [6429734, 6429842], [6430019, 6430172], [6430531, 6430629], [6432059, 6432215], [6433497, 6433790]]	[[6426399, 6426572], [6427113, 6427261], [6427344, 6427512], [6429734, 6429842], [6430019, 6430121]]
NM_173637	[[6426047, 6426572], [6427113, 6427261], [6427344, 6427512], [6429734, 6429842], [6430019, 6430172], [6432059, 6432215], [6433497, 6433790]]	[[6426399, 6426572], [6427113, 6427261], [6427344, 6427512], [6429734, 6429842], [6430019, 6430172], [6432059, 6432215], [6433497, 6433704]]
NR_135612	[[6426047, 6426166], [6426312, 6426572], [6427113, 6427261], [6427344, 6427512], [6429734, 6429842], [6430019, 6430172], [6432059, 6432215], [6433497, 6433790]]	None

Promoter

Chrom	Start	End	Description
chr19	6433765	6433778	CAGE_peak_1_at_SLC25A41_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I006462	6462076	6462897	0.8	[{'connected_gene': 'CRB3', 'score': 550.77}, {'connected_gene': 'SLC25A23', 'score': 10.54}, {'connected_gene': 'RFX2', 'score': 3.64}, {'connected_gene': 'SLC25A41', 'score': 0.31}]
chr19	GH19I006423	6423090	6426250	2.07	[{'connected_gene': 'KHSRP', 'score': 590.87}, {'connected_gene': 'GC19M006424', 'score': 550.77}, {'connected_gene': 'ZNF557', 'score': 45.22}, {'connected_gene': 'DUS3L', 'score': 43.52}, {'connected_gene': 'ENSG00000267571', 'score': 25.14}, {'connected_gene': 'SNRPEP4', 'score': 23.71}, {'connected_gene': 'SAFB', 'score': 22.94}, {'connected_gene': 'RANBP3', 'score': 21.34}, {'connected_gene': 'SAFB2', 'score': 19.58}, {'connected_gene': 'VMAC', 'score': 17.21}, {'connected_gene': 'TRIP10', 'score': 14.53}, {'connected_gene': 'GPR108', 'score': 14.42}, {'connected_gene': 'GTF2F1', 'score': 13.2}, {'connected_gene': 'ENSG00000269680', 'score': 11.4}, {'connected_gene': 'ALKBH7', 'score': 10.22}, {'connected_gene': 'CLPP', 'score': 6.82}, {'connected_gene': 'SLC25A41', 'score': 6.54}, {'connected_gene': 'MIR3940', 'score': 0.44}]
chr19	GH19I006426	6426350	6426559	0.46	[{'connected_gene': 'KHSRP', 'score': 550.77}, {'connected_gene': 'GC19M006424', 'score': 550.77}, {'connected_gene': 'SLC25A41', 'score': 0.44}]
chr19	GH19I006360	6360890	6363649	2.05	[{'connected_gene': 'CLPP', 'score': 557.55}, {'connected_gene': 'ENSG00000269802', 'score': 550.77}, {'connected_gene': 'GC19P006362', 'score': 550.77}, {'connected_gene': 'GC19P006361', 'score': 550.77}, {'connected_gene': 'SNRPEP4', 'score': 10.68}, {'connected_gene': 'ENSG00000267571', 'score': 10.64}, {'connected_gene': 'RPL36', 'score': 9.74}, {'connected_gene': 'GTF2F1', 'score': 8.31}, {'connected_gene': 'SLC25A41', 'score': 4.7}, {'connected_gene': 'ALKBH7', 'score': 0.39}]
chr19	GH19I006480	6480772	6482990	1.83	[{'connected_gene': 'DENND1C', 'score': 550.77}, {'connected_gene': 'SLC25A23', 'score': 6.82}, {'connected_gene': 'SLC25A41', 'score': 5.44}, {'connected_gene': 'MLLT1', 'score': 5.24}, {'connected_gene': 'ENSG00000275234', 'score': 0.39}]
chr19	GH19I006504	6504601	6505176	1.29	[{'connected_gene': 'ZNF557', 'score': 21.81}, {'connected_gene': 'DUS3L', 'score': 19.3}, {'connected_gene': 'KHSRP', 'score': 14.06}, {'connected_gene': 'SAFB', 'score': 13.01}, {'connected_gene': 'RANBP3', 'score': 12.04}, {'connected_gene': 'ENSG00000267571', 'score': 10.46}, {'connected_gene': 'SLC25A41', 'score': 5.0}, {'connected_gene': 'TUBB4A', 'score': 0.77}, {'connected_gene': 'TNFSF9', 'score': 0.34}]
chr19	GH19I006457	6457758	6461199	2.09	[{'connected_gene': 'SLC25A23', 'score': 569.75}, {'connected_gene': 'KHSRP', 'score': 44.8}, {'connected_gene': 'SNRPEP4', 'score': 23.39}, {'connected_gene': 'RANBP3', 'score': 21.58}, {'connected_gene': 'VMAC', 'score': 17.21}, {'connected_gene': 'ENSG00000267571', 'score': 16.68}, {'connected_gene': 'ZNF557', 'score': 15.18}, {'connected_gene': 'GPR108', 'score': 14.43}, {'connected_gene': 'DUS3L', 'score': 13.8}, {'connected_gene': 'SAFB2', 'score': 11.45}, {'connected_gene': 'SAFB', 'score': 10.58}, {'connected_gene': 'GTF2F1', 'score': 10.44}, {'connected_gene': 'SLC25A41', 'score': 6.64}, {'connected_gene': 'CRB3', 'score': 0.77}]
chr19	GH19I006055	6055601	6069359	1.8	[{'connected_gene': 'RFX2', 'score': 27.83}, {'connected_gene': 'ACSBG2', 'score': 25.03}, {'connected_gene': 'PRR22', 'score': 13.14}, {'connected_gene': 'SAFB', 'score': 11.95}, {'connected_gene': 'SNRPEP4', 'score': 10.57}, {'connected_gene': 'DUS3L', 'score': 10.0}, {'connected_gene': 'SLC25A41', 'score': 9.91}, {'connected_gene': 'KHSRP', 'score': 9.74}, {'connected_gene': 'CATSPERD', 'score': 9.44}, {'connected_gene': 'DENND1C', 'score': 3.66}, {'connected_gene': 'SAFB2', 'score': 2.41}, {'connected_gene': 'TNFSF9', 'score': 1.31}, {'connected_gene': 'VMAC', 'score': 1.29}, {'connected_gene': 'ENSG00000267262', 'score': 0.44}, {'connected_gene': 'GC19M006019', 'score': 0.34}]
chr19	GH19I006377	6377717	6378951	0.31	[{'connected_gene': 'PSPN', 'score': 550.77}, {'connected_gene': 'GTF2F1', 'score': 12.49}, {'connected_gene': 'SLC25A41', 'score': 10.43}, {'connected_gene': 'CLPP', 'score': 6.52}, {'connected_gene': 'ALKBH7', 'score': 0.44}]
chr19	GH19I005956	5956312	5970192	1.66	[{'connected_gene': 'VMAC', 'score': 40.44}, {'connected_gene': 'ENSG00000267571', 'score': 31.63}, {'connected_gene': 'CAPS', 'score': 27.08}, {'connected_gene': 'DUS3L', 'score': 24.32}, {'connected_gene': 'NDUFA11', 'score': 23.82}, {'connected_gene': 'GPR108', 'score': 23.2}, {'connected_gene': 'FUT5', 'score': 19.53}, {'connected_gene': 'ACSBG2', 'score': 19.42}, {'connected_gene': 'SAFB', 'score': 12.1}, {'connected_gene': 'KDM4B', 'score': 11.53}, {'connected_gene': 'FUT3', 'score': 11.49}, {'connected_gene': 'FUT6', 'score': 11.49}, {'connected_gene': 'KHSRP', 'score': 10.63}, {'connected_gene': 'SNRPEP4', 'score': 9.68}, {'connected_gene': 'SLC25A41', 'score': 8.52}, {'connected_gene': 'PRR22', 'score': 7.99}, {'connected_gene': 'CATSPERD', 'score': 5.97}, {'connected_gene': 'NRTN', 'score': 2.56}, {'connected_gene': 'PSPN', 'score': 2.11}, {'connected_gene': 'RFX2', 'score': 1.26}, {'connected_gene': 'GC19P005968', 'score': 0.44}, {'connected_gene': 'RANBP3', 'score': 0.37}]
chr19	GH19I006392	6392045	6395503	2.26	[{'connected_gene': 'GTF2F1', 'score': 562.98}, {'connected_gene': 'MIR6790', 'score': 550.77}, {'connected_gene': 'LOC390877', 'score': 550.77}, {'connected_gene': 'KHSRP', 'score': 24.77}, {'connected_gene': 'SNRPEP4', 'score': 19.8}, {'connected_gene': 'SAFB', 'score': 14.27}, {'connected_gene': 'ZNF557', 'score': 13.41}, {'connected_gene': 'ENSG00000267571', 'score': 12.77}, {'connected_gene': 'DUS3L', 'score': 12.15}, {'connected_gene': 'RANBP3', 'score': 10.61}, {'connected_gene': 'CLPP', 'score': 6.83}, {'connected_gene': 'SLC25A41', 'score': 5.09}]
chr19	GH19I006433	6433753	6433812	0.5	[{'connected_gene': 'SLC25A41', 'score': 550.77}, {'connected_gene': 'KHSRP', 'score': 0.44}]
chr19	GH19I006970	6970248	6970757	0.66	[{'connected_gene': 'SLC25A41', 'score': 5.02}, {'connected_gene': 'GC19M006963', 'score': 0.44}, {'connected_gene': 'ADGRE4P', 'score': 0.31}]
chr19	GH19I005689	5689610	5694593	2.13	[{'connected_gene': 'RPL36', 'score': 583.69}, {'connected_gene': 'DUS3L', 'score': 159.5}, {'connected_gene': 'KHSRP', 'score': 148.74}, {'connected_gene': 'ENSG00000267571', 'score': 127.24}, {'connected_gene': 'SAFB', 'score': 119.76}, {'connected_gene': 'SNRPEP4', 'score': 112.63}, {'connected_gene': 'VMAC', 'score': 56.83}, {'connected_gene': 'SAFB2', 'score': 50.22}, {'connected_gene': 'PTPRS', 'score': 49.27}, {'connected_gene': 'KDM4B', 'score': 49.12}, {'connected_gene': 'RANBP3', 'score': 45.38}, {'connected_gene': 'GTF2F1', 'score': 37.35}, {'connected_gene': 'LONP1', 'score': 32.71}, {'connected_gene': 'SLC25A41', 'score': 5.06}, {'connected_gene': 'GC19P005701', 'score': 0.44}, {'connected_gene': 'C19orf70', 'score': 0.39}, {'connected_gene': 'GC19M005694', 'score': 0.39}]
chr19	GH19I006500	6500998	6503019	1.74	[{'connected_gene': 'TUBB4A', 'score': 550.77}, {'connected_gene': 'SLC25A41', 'score': 4.79}, {'connected_gene': 'ENSG00000268203', 'score': 0.44}, {'connected_gene': 'ENSG00000268191', 'score': 0.44}]
chr19	GH19I006411	6411990	6414477	0.96	[{'connected_gene': 'GC19P006415', 'score': 550.77}, {'connected_gene': 'SLC25A41', 'score': 36.36}, {'connected_gene': 'KHSRP', 'score': 29.4}, {'connected_gene': 'ZNF557', 'score': 27.81}, {'connected_gene': 'SAFB', 'score': 22.77}, {'connected_gene': 'DUS3L', 'score': 18.89}, {'connected_gene': 'SAFB2', 'score': 14.75}, {'connected_gene': 'SNRPEP4', 'score': 13.61}, {'connected_gene': 'ENSG00000267571', 'score': 10.51}, {'connected_gene': 'GTF2F1', 'score': 10.31}, {'connected_gene': 'PIR56098', 'score': 0.39}, {'connected_gene': 'GC19P006404', 'score': 0.39}, {'connected_gene': 'LOC390877', 'score': 0.37}]
chr19	GH19I006401	6401838	6403982	0.97	[{'connected_gene': 'GC19P006404', 'score': 550.77}, {'connected_gene': 'PIR56098', 'score': 550.77}, {'connected_gene': 'SLC25A41', 'score': 22.73}, {'connected_gene': 'GTF2F1', 'score': 0.44}, {'connected_gene': 'LOC390877', 'score': 0.44}]