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
ENST00000594625	[[17830050, 17830184], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17836762]]	[[17830066, 17830184], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17836762]]
ENST00000324096	[[17830160, 17830429], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17838981], [17844001, 17844237], [17845081, 17845325]]	[[17830311, 17830429], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17838981], [17844001, 17844237], [17845081, 17845237]]
ENST00000600608	[[17830288, 17830429], [17831744, 17831846], [17832059, 17832272], [17834934, 17835017], [17835857, 17835859]]	[[17830311, 17830429], [17831744, 17831846], [17832059, 17832121]]
ENST00000600186	[[17830288, 17830429], [17834934, 17835017], [17835857, 17835998], [17836637, 17836859]]	[[17830311, 17830429], [17834934, 17835017], [17835857, 17835998], [17836637, 17836859]]
ENST00000594212	[[17830288, 17830429], [17831794, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17837352]]	[[17830311, 17830429], [17831794, 17831846], [17834934, 17835013]]
ENST00000597735	[[17830288, 17830429], [17831744, 17831846], [17834934, 17835017], [17835857, 17835905], [17838921, 17838981], [17844001, 17844147]]	[[17830311, 17830429], [17831744, 17831846], [17834934, 17835017], [17835857, 17835905], [17838921, 17838981], [17844001, 17844147]]
ENST00000601544	[[17830292, 17830429], [17831744, 17831846], [17834934, 17835017], [17835838, 17835998], [17836637, 17836753]]	None
ENST00000597681	[[17830305, 17830429], [17838097, 17838920]]	None
ENST00000594340	[[17830579, 17830684], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17836773]]	None
ENST00000597067	[[17830589, 17830775], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17836664]]	None
ENST00000599494	[[17830944, 17830962], [17831744, 17831846], [17834934, 17835017], [17835838, 17835998], [17836637, 17836859]]	None
ENST00000544059	[[17830964, 17831239], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17838981], [17844001, 17844237], [17845081, 17845299]]	[[17831199, 17831239], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17838981], [17844001, 17844237], [17845081, 17845237]]
ENST00000594365	[[17830969, 17831362], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17836809]]	[[17831165, 17831362], [17831744, 17831787]]
ENST00000593593	[[17830972, 17831362], [17831794, 17831846], [17834934, 17835017], [17835857, 17835898]]	[[17831165, 17831362], [17831794, 17831843]]
ENST00000596637	[[17830999, 17831400], [17831744, 17831846], [17834934, 17835004]]	[[17831165, 17831369]]
ENST00000595338	[[17831009, 17831152], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17836726]]	None
ENST00000598769	[[17831532, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17836816]]	None
ENST00000598916	[[17831560, 17831629], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17836784]]	None
ENST00000597000	[[17838246, 17838305], [17844089, 17844237], [17845081, 17845322]]	[[17838246, 17838305], [17844089, 17844237], [17845081, 17845237]]
ENST00000598756	[[17838956, 17838981], [17839546, 17839790], [17844001, 17844237], [17845081, 17845159]]	None
ENST00000601097	[[17843828, 17844237], [17845081, 17845322]]	None
NM_018174	[[17830260, 17830429], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17838981], [17844001, 17844237], [17845081, 17845324]]	[[17830311, 17830429], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17838981], [17844001, 17844237], [17845081, 17845237]]
NM_001308363	[[17830964, 17831239], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17838981], [17844001, 17844237], [17845081, 17845324]]	[[17831199, 17831239], [17831744, 17831846], [17834934, 17835017], [17835857, 17835998], [17836637, 17838981], [17844001, 17844237], [17845081, 17845237]]

Promoter

Chrom	Start	End	Description
chr19	17830280	17830317	CAGE_peak_1_at_MAP1S_5end
chr19	17830350	17830361	CAGE_peak_2_at_MAP1S_5end
chr19	17836639	17836651	CAGE_peak_12_at_MAP1S_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I017552	17552634	17557081	2.36	[{'connected_gene': 'COLGALT1', 'score': 575.84}, {'connected_gene': 'ENSG00000269578', 'score': 42.85}, {'connected_gene': 'ENSG00000267904', 'score': 33.48}, {'connected_gene': 'ENSG00000268087', 'score': 33.44}, {'connected_gene': 'MVB12A', 'score': 31.4}, {'connected_gene': 'ENSG00000268938', 'score': 26.89}, {'connected_gene': 'ENSG00000268743', 'score': 26.8}, {'connected_gene': 'GTPBP3', 'score': 22.56}, {'connected_gene': 'IQCN', 'score': 20.92}, {'connected_gene': 'ENSG00000269191', 'score': 15.07}, {'connected_gene': 'PGLS', 'score': 14.12}, {'connected_gene': 'FAM129C', 'score': 12.68}, {'connected_gene': 'HAUS8', 'score': 12.46}, {'connected_gene': 'BST2', 'score': 11.19}, {'connected_gene': 'PLVAP', 'score': 11.1}, {'connected_gene': 'RPL18A', 'score': 10.53}, {'connected_gene': 'ELL', 'score': 10.26}, {'connected_gene': 'PGPEP1', 'score': 5.55}, {'connected_gene': 'SLC27A1', 'score': 4.5}, {'connected_gene': 'MAP1S', 'score': 1.97}, {'connected_gene': 'ARRDC2', 'score': 1.59}, {'connected_gene': 'MYO9B', 'score': 1.45}, {'connected_gene': 'GC19M017549', 'score': 0.44}]
chr19	GH19I017718	17718656	17722501	1.47	[{'connected_gene': 'MAP1S', 'score': 556.43}, {'connected_gene': 'FCHO1', 'score': 17.6}, {'connected_gene': 'UNC13A', 'score': 12.63}, {'connected_gene': 'B3GNT3', 'score': 12.3}, {'connected_gene': 'GC19P020228', 'score': 0.34}]
chr19	GH19I017716	17716892	17718200	1.11	[{'connected_gene': 'MAP1S', 'score': 557.49}, {'connected_gene': 'UNC13A', 'score': 12.65}, {'connected_gene': 'B3GNT3', 'score': 11.94}, {'connected_gene': 'PIR50741', 'score': 0.37}]
chr19	GH19I017762	17762179	17763241	1.2	[{'connected_gene': 'MAP1S', 'score': 12.46}, {'connected_gene': 'B3GNT3', 'score': 12.42}, {'connected_gene': 'INSL3', 'score': 11.78}, {'connected_gene': 'PLVAP', 'score': 11.59}, {'connected_gene': 'NXNL1', 'score': 11.53}, {'connected_gene': 'F2RL3', 'score': 11.06}, {'connected_gene': 'GC19M017755', 'score': 0.77}, {'connected_gene': 'GC19P020271', 'score': 0.44}, {'connected_gene': 'FCHO1', 'score': 0.39}]
chr19	GH19I017759	17759844	17761390	0.2	[{'connected_gene': 'MAP1S', 'score': 12.46}, {'connected_gene': 'B3GNT3', 'score': 12.42}, {'connected_gene': 'INSL3', 'score': 11.77}, {'connected_gene': 'NXNL1', 'score': 11.54}, {'connected_gene': 'FCHO1', 'score': 9.85}, {'connected_gene': 'GC19M017755', 'score': 0.77}, {'connected_gene': 'GC19P020271', 'score': 0.44}]
chr19	GH19I017758	17758070	17759552	0.49	[{'connected_gene': 'MAP1S', 'score': 12.47}, {'connected_gene': 'B3GNT3', 'score': 12.4}, {'connected_gene': 'INSL3', 'score': 11.77}, {'connected_gene': 'NXNL1', 'score': 11.54}, {'connected_gene': 'FCHO1', 'score': 10.96}, {'connected_gene': 'GC19P020271', 'score': 0.44}, {'connected_gene': 'GC19M017755', 'score': 0.44}]
chr19	GH19I017738	17738707	17739911	1.06	[{'connected_gene': 'MAP1S', 'score': 13.1}, {'connected_gene': 'B3GNT3', 'score': 12.14}, {'connected_gene': 'FCHO1', 'score': 9.37}, {'connected_gene': 'GC19P020228', 'score': 0.77}, {'connected_gene': 'LOC105372299', 'score': 0.39}]
chr19	GH19I018019	18019775	18025420	1.79	[{'connected_gene': 'LOC440514', 'score': 550.77}, {'connected_gene': 'ARRDC2', 'score': 19.41}, {'connected_gene': 'IFI30', 'score': 19.24}, {'connected_gene': 'ENSG00000268030', 'score': 12.34}, {'connected_gene': 'GTPBP3', 'score': 11.35}, {'connected_gene': 'COMP', 'score': 6.12}, {'connected_gene': 'UBA52', 'score': 4.76}, {'connected_gene': 'LRRC25', 'score': 4.62}, {'connected_gene': 'JUND', 'score': 2.54}, {'connected_gene': 'FCHO1', 'score': 2.28}, {'connected_gene': 'MAP1S', 'score': 2.22}, {'connected_gene': 'ELL', 'score': 1.64}, {'connected_gene': 'PDE4C', 'score': 1.46}, {'connected_gene': 'IL12RB1', 'score': 1.45}, {'connected_gene': 'MAST3', 'score': 1.38}, {'connected_gene': 'KCNN1', 'score': 1.26}, {'connected_gene': 'FAM129C', 'score': 1.21}, {'connected_gene': 'PGPEP1', 'score': 1.2}, {'connected_gene': 'LOC646666', 'score': 0.37}]
chr19	GH19I017706	17706832	17706981	0.69	[{'connected_gene': 'INSL3', 'score': 12.04}, {'connected_gene': 'B3GNT3', 'score': 11.72}, {'connected_gene': 'UNC13A', 'score': 5.14}, {'connected_gene': 'PIR50741', 'score': 0.77}, {'connected_gene': 'MAP1S', 'score': 0.39}]
chr19	GH19I017767	17767406	17768339	0.46	[{'connected_gene': 'FCHO1', 'score': 14.81}, {'connected_gene': 'B3GNT3', 'score': 12.97}, {'connected_gene': 'UNC13A', 'score': 12.39}, {'connected_gene': 'MAP1S', 'score': 12.18}, {'connected_gene': 'INSL3', 'score': 11.71}, {'connected_gene': 'SNORA68', 'score': 11.71}, {'connected_gene': 'RPL18A', 'score': 11.71}, {'connected_gene': 'MVB12A', 'score': 10.3}, {'connected_gene': 'PLVAP', 'score': 10.3}, {'connected_gene': 'GC19M017755', 'score': 0.77}]
chr19	GH19I017711	17711433	17712646	0.43	[{'connected_gene': 'UNC13A', 'score': 12.35}, {'connected_gene': 'MAP1S', 'score': 5.18}, {'connected_gene': 'PIR50741', 'score': 0.39}]
chr19	GH19I017679	17679601	17680825	1.62	[{'connected_gene': 'IFI30', 'score': 11.82}, {'connected_gene': 'ARRDC2', 'score': 2.26}, {'connected_gene': 'MAP1S', 'score': 1.8}, {'connected_gene': 'UNC13A', 'score': 0.44}, {'connected_gene': 'ENSG00000279300', 'score': 0.22}]
chr19	GH19I018012	18012894	18019599	1.61	[{'connected_gene': 'IFI30', 'score': 13.75}, {'connected_gene': 'ARRDC2', 'score': 9.91}, {'connected_gene': 'JAK3', 'score': 5.84}, {'connected_gene': 'COMP', 'score': 5.22}, {'connected_gene': 'JUND', 'score': 4.61}, {'connected_gene': 'FCHO1', 'score': 4.24}, {'connected_gene': 'IL12RB1', 'score': 3.99}, {'connected_gene': 'LRRC25', 'score': 2.29}, {'connected_gene': 'MAP1S', 'score': 1.51}, {'connected_gene': 'ENSG00000279172', 'score': 0.44}, {'connected_gene': 'LOC440514', 'score': 0.44}]
chr19	GH19I017743	17743992	17744401	0.79	[{'connected_gene': 'GC19P020228', 'score': 550.77}, {'connected_gene': 'MAP1S', 'score': 13.09}, {'connected_gene': 'B3GNT3', 'score': 11.5}, {'connected_gene': 'FCHO1', 'score': 0.77}, {'connected_gene': 'LOC105372299', 'score': 0.44}]
chr19	GH19I017703	17703892	17704121	0.66	[{'connected_gene': 'PIR50741', 'score': 550.77}, {'connected_gene': 'INSL3', 'score': 11.6}, {'connected_gene': 'SNORA68', 'score': 11.56}, {'connected_gene': 'RPL18A', 'score': 11.56}, {'connected_gene': 'MAP1S', 'score': 0.37}]
chr19	GH19I017764	17764295	17767381	1.37	[{'connected_gene': 'GC19M017755', 'score': 550.77}, {'connected_gene': 'B3GNT3', 'score': 12.97}, {'connected_gene': 'UNC13A', 'score': 12.39}, {'connected_gene': 'MAP1S', 'score': 12.18}, {'connected_gene': 'INSL3', 'score': 11.54}, {'connected_gene': 'MVB12A', 'score': 10.3}, {'connected_gene': 'PLVAP', 'score': 10.3}, {'connected_gene': 'FCHO1', 'score': 10.24}]