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
ENST00000236671	[[1773981, 1774900], [1775032, 1775131], [1775223, 1775368], [1776135, 1776258], [1778553, 1778786], [1780198, 1780317], [1780745, 1780869], [1782538, 1782698], [1785021, 1785222]]	[[1774732, 1774900], [1775032, 1775131], [1775223, 1775368], [1776135, 1776258], [1778553, 1778786], [1780198, 1780317], [1780745, 1780869], [1782538, 1782698], [1785021, 1785089]]
ENST00000433655	[[1774004, 1774900], [1775032, 1775131], [1775223, 1775361], [1776131, 1776258], [1778553, 1778786], [1780198, 1780317], [1780745, 1780869], [1782538, 1782698], [1785021, 1785131]]	[[1776131, 1776258], [1778553, 1778786], [1780198, 1780317], [1780745, 1780869], [1782538, 1782698], [1785021, 1785089]]
ENST00000429746	[[1774612, 1774900], [1775032, 1775131], [1775223, 1775485], [1776135, 1776176]]	[[1774732, 1774900], [1775032, 1775131], [1775223, 1775485], [1776135, 1776176]]
ENST00000497544	[[1775034, 1775368], [1776135, 1776578]]	None
ENST00000438213	[[1775253, 1775368], [1776135, 1776258], [1778553, 1778786], [1780198, 1780317], [1780745, 1780869], [1782538, 1782770]]	[[1775253, 1775368], [1776135, 1776258], [1778553, 1778786], [1780198, 1780317], [1780745, 1780869], [1782538, 1782721]]
ENST00000367196	[[1778553, 1778786], [1780198, 1780317], [1780745, 1780869], [1782538, 1782698], [1783362, 1783633]]	[[1778553, 1778786], [1780198, 1780317], [1780745, 1780869], [1782538, 1782661]]
NM_001909	[[1773981, 1774900], [1775032, 1775131], [1775223, 1775368], [1776135, 1776258], [1778553, 1778786], [1780198, 1780317], [1780745, 1780869], [1782538, 1782698], [1785021, 1785222]]	[[1774732, 1774900], [1775032, 1775131], [1775223, 1775368], [1776135, 1776258], [1778553, 1778786], [1780198, 1780317], [1780745, 1780869], [1782538, 1782698], [1785021, 1785089]]

Promoter

Chrom	Start	End	Description
chr11	1776214	1776241	CAGE_peak_5_at_CTSD_5end
chr11	1778628	1778664	CAGE_peak_3_at_CTSD_5end
chr11	1778687	1778733	CAGE_peak_4_at_CTSD_5end
chr11	1778761	1778780	CAGE_peak_7_at_CTSD_5end
chr11	1783638	1783656	CAGE_peak_12_at_CTSD_5end
chr11	1783707	1783722	CAGE_peak_8_at_CTSD_5end
chr11	1785100	1785113	CAGE_peak_2_at_CTSD_5end
chr11	1785139	1785163	CAGE_peak_1_at_CTSD_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I001768	1768571	1769449	0.87	[{'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'TNNI2', 'score': 11.38}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'FAM99B', 'score': 11.04}, {'connected_gene': 'CTSD', 'score': 0.77}, {'connected_gene': 'LOC105376517', 'score': 0.44}]
chr11	GH11I001810	1810601	1811400	0.38	[{'connected_gene': 'TNNI2', 'score': 12.89}, {'connected_gene': 'ENSG00000229512', 'score': 11.99}, {'connected_gene': 'CTSD', 'score': 11.99}, {'connected_gene': 'ENSG00000250644', 'score': 11.99}, {'connected_gene': 'ENSG00000235027', 'score': 11.97}, {'connected_gene': 'IFITM10', 'score': 11.87}, {'connected_gene': 'MRPL23-AS1', 'score': 11.28}, {'connected_gene': 'LINC01219', 'score': 11.27}, {'connected_gene': 'H19', 'score': 11.26}, {'connected_gene': 'KRTAP5-6', 'score': 11.17}, {'connected_gene': 'FAM99B', 'score': 11.16}, {'connected_gene': 'LOC100505570', 'score': 11.16}, {'connected_gene': 'LOC390029', 'score': 0.44}, {'connected_gene': 'SYT8', 'score': 0.37}]
chr11	GH11I001770	1770041	1773855	1.65	[{'connected_gene': 'SNORA52', 'score': 26.44}, {'connected_gene': 'TSPAN4', 'score': 25.02}, {'connected_gene': 'PIDD1', 'score': 22.73}, {'connected_gene': 'IFITM10', 'score': 17.91}, {'connected_gene': 'TNNI2', 'score': 17.45}, {'connected_gene': 'ENSG00000255142', 'score': 12.46}, {'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'FAM99B', 'score': 11.03}, {'connected_gene': 'RPLP2', 'score': 10.43}, {'connected_gene': 'TSSC4', 'score': 10.31}, {'connected_gene': 'RPL26P30', 'score': 10.1}, {'connected_gene': 'LSP1', 'score': 9.87}, {'connected_gene': 'ENSG00000235027', 'score': 7.01}, {'connected_gene': 'TOLLIP', 'score': 2.08}, {'connected_gene': 'CTSD', 'score': 1.83}, {'connected_gene': 'MOB2', 'score': 1.45}, {'connected_gene': 'LOC105376517', 'score': 0.44}]
chr11	GH11I001769	1769491	1769640	0.71	[{'connected_gene': 'PIDD1', 'score': 27.76}, {'connected_gene': 'SNORA52', 'score': 15.21}, {'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'TNNI2', 'score': 11.38}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'FAM99B', 'score': 11.04}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'TSPAN4', 'score': 11.04}, {'connected_gene': 'RPL26P30', 'score': 10.72}, {'connected_gene': 'ENSG00000255142', 'score': 10.18}, {'connected_gene': 'KCNQ1OT1', 'score': 9.68}, {'connected_gene': 'CTSD', 'score': 0.77}, {'connected_gene': 'LOC105376517', 'score': 0.44}]
chr11	GH11I001771	1769859	1769920	0.77	[{'connected_gene': 'PIDD1', 'score': 27.76}, {'connected_gene': 'SNORA52', 'score': 15.21}, {'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'TNNI2', 'score': 11.38}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'FAM99B', 'score': 11.04}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'TSPAN4', 'score': 11.04}, {'connected_gene': 'RPL26P30', 'score': 10.72}, {'connected_gene': 'ENSG00000255142', 'score': 10.18}, {'connected_gene': 'KCNQ1OT1', 'score': 9.68}, {'connected_gene': 'LOC105376517', 'score': 0.44}, {'connected_gene': 'CTSD', 'score': 0.44}]
chr11	GH11I001730	1730476	1730872	0.4	[{'connected_gene': 'KRTAP5-6', 'score': 20.73}, {'connected_gene': 'ENSG00000235027', 'score': 17.04}, {'connected_gene': 'KRTAP5-1', 'score': 12.79}, {'connected_gene': 'ENSG00000229512', 'score': 12.01}, {'connected_gene': 'CTSD', 'score': 12.01}, {'connected_gene': 'ENSG00000250644', 'score': 12.01}, {'connected_gene': 'KRTAP5-5', 'score': 11.97}, {'connected_gene': 'LOC100505570', 'score': 11.76}, {'connected_gene': 'FAM99B', 'score': 11.74}, {'connected_gene': 'KRTAP5-3', 'score': 5.24}, {'connected_gene': 'GC11M001718', 'score': 0.39}, {'connected_gene': 'GC11M001744', 'score': 0.37}]
chr11	GH11I001748	1748211	1753026	2.15	[{'connected_gene': 'IFITM10', 'score': 563.4}, {'connected_gene': 'ENSG00000235027', 'score': 7.7}, {'connected_gene': 'RPLP2', 'score': 4.74}, {'connected_gene': 'CTSD', 'score': 0.39}, {'connected_gene': 'ENSG00000250644', 'score': 0.39}]
chr11	GH11I001755	1755695	1756500	0.83	[{'connected_gene': 'IFITM10', 'score': 5.28}, {'connected_gene': 'ENSG00000235027', 'score': 0.77}, {'connected_gene': 'CTSD', 'score': 0.44}, {'connected_gene': 'ENSG00000250644', 'score': 0.44}]
chr11	GH11I001850	1849053	1849283	0.5	[{'connected_gene': 'CTSD', 'score': 2.02}, {'connected_gene': 'MOB2', 'score': 1.9}, {'connected_gene': 'LSP1', 'score': 0.77}, {'connected_gene': 'TNNI2', 'score': 0.39}, {'connected_gene': 'GC11P001831', 'score': 0.37}]
chr11	GH11I001777	1777601	1778970	0.96	[{'connected_gene': 'LOC105376517', 'score': 550.77}, {'connected_gene': 'ENSG00000235027', 'score': 7.08}, {'connected_gene': 'CTSD', 'score': 0.39}]
chr11	GH11I001874	1874367	1883425	1.7	[{'connected_gene': 'MIR7847', 'score': 550.77}, {'connected_gene': 'TNNT3', 'score': 9.97}, {'connected_gene': 'CTSD', 'score': 5.58}, {'connected_gene': 'GC11P001865', 'score': 0.39}, {'connected_gene': 'LSP1', 'score': 0.31}, {'connected_gene': 'GC11P001831', 'score': 0.25}]
chr11	GH11I001757	1757327	1764759	2.2	[{'connected_gene': 'ENSG00000235027', 'score': 558.25}, {'connected_gene': 'CTSD', 'score': 550.77}, {'connected_gene': 'TSPAN4', 'score': 15.21}, {'connected_gene': 'SNORA52', 'score': 11.96}, {'connected_gene': 'PIDD1', 'score': 10.04}, {'connected_gene': 'IFITM10', 'score': 6.45}, {'connected_gene': 'KCNQ1', 'score': 5.3}, {'connected_gene': 'ENSG00000229512', 'score': 0.77}, {'connected_gene': 'ENSG00000250644', 'score': 0.77}]
chr11	GH11I001728	1728853	1729702	0.59	[{'connected_gene': 'ENSG00000235027', 'score': 12.01}, {'connected_gene': 'ENSG00000229512', 'score': 12.01}, {'connected_gene': 'ENSG00000250644', 'score': 12.01}, {'connected_gene': 'CTSD', 'score': 11.99}, {'connected_gene': 'KRTAP5-6', 'score': 11.79}, {'connected_gene': 'FAM99B', 'score': 11.76}, {'connected_gene': 'LOC100505570', 'score': 11.76}, {'connected_gene': 'GC11M001718', 'score': 0.44}, {'connected_gene': 'GC11M001744', 'score': 0.37}]
chr11	GH11I001792	1792401	1793200	0.2	[{'connected_gene': 'GC11P001792', 'score': 550.77}, {'connected_gene': 'RPL36AP39', 'score': 550.77}, {'connected_gene': 'KRTAP5-6', 'score': 11.98}, {'connected_gene': 'FAM99B', 'score': 11.96}, {'connected_gene': 'LOC100505570', 'score': 11.96}, {'connected_gene': 'ENSG00000229512', 'score': 11.85}, {'connected_gene': 'CTSD', 'score': 11.85}, {'connected_gene': 'ENSG00000250644', 'score': 11.85}, {'connected_gene': 'ENSG00000235027', 'score': 11.83}, {'connected_gene': 'SYT8', 'score': 4.93}, {'connected_gene': 'LOC390029', 'score': 0.39}]