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
ENST00000441843	[[44453419, 44453870], [44455087, 44455683], [44456320, 44456499], [44457906, 44458072], [44462892, 44463118], [44464249, 44464410], [44465584, 44468067]]	[[44455121, 44455683], [44456320, 44456499], [44457906, 44458072], [44462892, 44463118]]
ENST00000425906	[[44453693, 44453870], [44455087, 44455615]]	[[44455121, 44455615]]
ENST00000325686	[[44453968, 44454255], [44455087, 44455683], [44456320, 44456499], [44457906, 44458072], [44462892, 44463118], [44464249, 44464410], [44465584, 44468068]]	[[44455121, 44455683], [44456320, 44456499], [44457906, 44458072], [44462892, 44463118]]
NM_001128303	[[44453419, 44453870], [44455087, 44455683], [44456320, 44456499], [44457906, 44458072], [44462892, 44463118], [44464249, 44464410], [44465584, 44468068]]	[[44455121, 44455683], [44456320, 44456499], [44457906, 44458072], [44462892, 44463118]]
NM_153218	[[44453968, 44454255], [44455087, 44455683], [44456320, 44456499], [44457906, 44458072], [44462892, 44463118], [44464249, 44464410], [44465584, 44468068]]	[[44455121, 44455683], [44456320, 44456499], [44457906, 44458072], [44462892, 44463118]]

Promoter

Chrom	Start	End	Description
chr13	44453642	44453659	CAGE_peak_6_at_LACC1_5end
chr13	44453660	44453673	CAGE_peak_7_at_LACC1_5end
chr13	44453688	44453795	CAGE_peak_1_at_LACC1_5end
chr13	44453807	44453817	CAGE_peak_9_at_LACC1_5end
chr13	44453976	44454026	CAGE_peak_3_at_LACC1_5end
chr13	44454031	44454051	CAGE_peak_2_at_LACC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I043087	43087532	43088801	0.81	[{'connected_gene': 'EPSTI1', 'score': 15.34}, {'connected_gene': 'CCDC122', 'score': 10.07}, {'connected_gene': 'LACC1', 'score': 10.07}, {'connected_gene': 'GC13P043094', 'score': 0.44}, {'connected_gene': 'GC13M043046', 'score': 0.26}, {'connected_gene': 'DNAJC15', 'score': 0.21}]
chr13	GH13I044270	44270455	44276979	1.47	[{'connected_gene': 'GPALPP1', 'score': 16.29}, {'connected_gene': 'NUFIP1', 'score': 14.57}, {'connected_gene': 'SERP2', 'score': 11.28}, {'connected_gene': 'SMIM2-AS1', 'score': 10.9}, {'connected_gene': 'LACC1', 'score': 9.44}, {'connected_gene': 'CCDC122', 'score': 3.49}, {'connected_gene': 'GC13M044260', 'score': 0.39}, {'connected_gene': 'GC13M044319', 'score': 0.23}]
chr13	GH13I044300	44300109	44314859	1.58	[{'connected_gene': 'SERP2', 'score': 16.39}, {'connected_gene': 'LACC1', 'score': 12.92}, {'connected_gene': 'GPALPP1', 'score': 11.25}, {'connected_gene': 'SMIM2', 'score': 10.58}, {'connected_gene': 'SMIM2-IT1', 'score': 10.58}, {'connected_gene': 'SMIM2-AS1', 'score': 5.51}, {'connected_gene': 'CCDC122', 'score': 2.95}, {'connected_gene': 'TSC22D1', 'score': 1.4}, {'connected_gene': 'GC13M044319', 'score': 0.37}, {'connected_gene': 'GC13M044260', 'score': 0.26}]
chr13	GH13I044292	44292071	44294754	1.26	[{'connected_gene': 'SERP2', 'score': 17.58}, {'connected_gene': 'SMIM2-IT1', 'score': 10.13}, {'connected_gene': 'SMIM2', 'score': 10.13}, {'connected_gene': 'LACC1', 'score': 9.67}, {'connected_gene': 'CCDC122', 'score': 3.64}, {'connected_gene': 'GC13M044260', 'score': 0.29}, {'connected_gene': 'GC13M044319', 'score': 0.29}]
chr13	GH13I044294	44294980	44295262	0.67	[{'connected_gene': 'SERP2', 'score': 17.26}, {'connected_gene': 'SMIM2-IT1', 'score': 10.13}, {'connected_gene': 'SMIM2', 'score': 10.13}, {'connected_gene': 'LACC1', 'score': 8.38}, {'connected_gene': 'CCDC122', 'score': 3.87}, {'connected_gene': 'GC13M044319', 'score': 0.31}, {'connected_gene': 'GC13M044260', 'score': 0.29}]
chr13	GH13I043804	43804267	43806181	1.37	[{'connected_gene': 'CCDC122', 'score': 10.7}, {'connected_gene': 'LACC1', 'score': 7.46}, {'connected_gene': 'ENOX1', 'score': 3.17}, {'connected_gene': 'LOC105370181', 'score': 0.44}, {'connected_gene': 'GC13P043791', 'score': 0.39}]
chr13	GH13I043307	43307250	43308867	1.07	[{'connected_gene': 'CCDC122', 'score': 10.48}, {'connected_gene': 'LACC1', 'score': 10.48}, {'connected_gene': 'GC13P043321', 'score': 0.39}, {'connected_gene': 'GC13M043287', 'score': 0.37}, {'connected_gene': 'ENOX1', 'score': 0.04}]
chr13	GH13I043300	43300755	43303973	0.86	[{'connected_gene': 'CCDC122', 'score': 10.48}, {'connected_gene': 'LACC1', 'score': 10.48}, {'connected_gene': 'GC13M043287', 'score': 0.39}, {'connected_gene': 'GC13P043321', 'score': 0.37}, {'connected_gene': 'ENOX1', 'score': 0.04}]
chr13	GH13I043820	43820755	43827191	0.38	[{'connected_gene': 'CCDC122', 'score': 27.87}, {'connected_gene': 'LACC1', 'score': 17.93}, {'connected_gene': 'LOC105370181', 'score': 0.39}, {'connected_gene': 'ENSG00000274001', 'score': 0.23}]
chr13	GH13I043864	43864598	43867158	0.74	[{'connected_gene': 'CCDC122', 'score': 30.32}, {'connected_gene': 'LACC1', 'score': 25.24}, {'connected_gene': 'ENSG00000274001', 'score': 0.39}, {'connected_gene': 'LOC105370181', 'score': 0.23}]
chr13	GH13I043796	43796784	43799524	0.67	[{'connected_gene': 'CCDC122', 'score': 10.09}, {'connected_gene': 'LACC1', 'score': 7.51}, {'connected_gene': 'GC13P043791', 'score': 0.44}, {'connected_gene': 'LOC105370181', 'score': 0.39}]
chr13	GH13I043881	43881001	43881200	0.2	[{'connected_gene': 'CCDC122', 'score': 550.77}, {'connected_gene': 'LACC1', 'score': 550.77}, {'connected_gene': 'ENSG00000281883', 'score': 0.77}, {'connected_gene': 'GC13M043879', 'score': 0.37}]
chr13	GH13I043878	43878343	43880601	1.93	[{'connected_gene': 'CCDC122', 'score': 581.56}, {'connected_gene': 'LACC1', 'score': 573.93}, {'connected_gene': 'ENSG00000274001', 'score': 550.77}, {'connected_gene': 'GC13M043879', 'score': 0.37}]
chr13	GH13I043862	43862734	43862917	0.22	[{'connected_gene': 'LACC1', 'score': 5.57}, {'connected_gene': 'ENOX1', 'score': 1.74}, {'connected_gene': 'ENSG00000274001', 'score': 0.37}, {'connected_gene': 'CCDC122', 'score': 0.37}, {'connected_gene': 'LOC105370181', 'score': 0.23}]
chr13	GH13I043939	43939106	43939478	0.31	[{'connected_gene': 'LACC1', 'score': 6.17}, {'connected_gene': 'GC13P043936', 'score': 0.77}, {'connected_gene': 'DGKZP1', 'score': 0.31}, {'connected_gene': 'LINC00284', 'score': 0.29}, {'connected_gene': 'ENSG00000281883', 'score': 0.22}]
chr13	GH13I043847	43847801	43848601	0.82	[{'connected_gene': 'LACC1', 'score': 35.35}, {'connected_gene': 'CCDC122', 'score': 18.8}, {'connected_gene': 'ENSG00000274001', 'score': 0.31}, {'connected_gene': 'LOC105370181', 'score': 0.28}]
chr13	GH13I043806	43806656	43810023	0.38	[{'connected_gene': 'LACC1', 'score': 18.13}, {'connected_gene': 'CCDC122', 'score': 10.8}, {'connected_gene': 'LOC105370181', 'score': 0.77}, {'connected_gene': 'GC13P043791', 'score': 0.37}]
chr13	GH13I043830	43830201	43831269	0.72	[{'connected_gene': 'LACC1', 'score': 31.72}, {'connected_gene': 'CCDC122', 'score': 10.74}, {'connected_gene': 'LOC105370181', 'score': 0.37}, {'connected_gene': 'ENSG00000274001', 'score': 0.25}]
chr13	GH13I043814	43814845	43816105	1.15	[{'connected_gene': 'LACC1', 'score': 21.59}, {'connected_gene': 'LOC105370181', 'score': 0.77}, {'connected_gene': 'ENSG00000274001', 'score': 0.21}]
chr13	GH13I043800	43800134	43801735	0.2	[{'connected_gene': 'LACC1', 'score': 7.34}, {'connected_gene': 'LOC105370181', 'score': 0.39}, {'connected_gene': 'GC13P043791', 'score': 0.39}]
chr13	GH13I044258	44258289	44260439	1.63	[{'connected_gene': 'LACC1', 'score': 10.93}, {'connected_gene': 'SMIM2-AS1', 'score': 4.37}, {'connected_gene': 'CCDC122', 'score': 3.7}, {'connected_gene': 'GC13M044260', 'score': 0.77}, {'connected_gene': 'ENSG00000230731', 'score': 0.37}]
chr13	GH13I043908	43908579	43909574	0.76	[{'connected_gene': 'LINC00284', 'score': 550.77}, {'connected_gene': 'CCDC122', 'score': 25.59}, {'connected_gene': 'LACC1', 'score': 23.77}, {'connected_gene': 'GC13P043936', 'score': 0.31}, {'connected_gene': 'ENSG00000281883', 'score': 0.31}]
chr13	GH13I043811	43811027	43812354	0.2	[{'connected_gene': 'LOC105370181', 'score': 550.77}, {'connected_gene': 'CCDC122', 'score': 17.97}, {'connected_gene': 'LACC1', 'score': 10.81}, {'connected_gene': 'GC13P043791', 'score': 0.34}]
chr13	GH13I044242	44242467	44245112	1.35	[{'connected_gene': 'ENSG00000230731', 'score': 550.77}, {'connected_gene': 'SERP2', 'score': 11.21}, {'connected_gene': 'LACC1', 'score': 4.3}, {'connected_gene': 'GC13M044260', 'score': 0.37}]
chr13	GH13I044264	44264337	44264717	0.97	[{'connected_gene': 'GC13M044260', 'score': 550.77}, {'connected_gene': 'LACC1', 'score': 12.2}, {'connected_gene': 'SMIM2-AS1', 'score': 4.59}, {'connected_gene': 'CCDC122', 'score': 3.34}, {'connected_gene': 'GC13M044319', 'score': 0.21}]
chr13	GH13I044012	44012975	44014730	0.63	[{'connected_gene': 'GC13P044014', 'score': 550.77}, {'connected_gene': 'LOC105370182', 'score': 550.77}, {'connected_gene': 'CCDC122', 'score': 9.86}, {'connected_gene': 'LACC1', 'score': 4.96}, {'connected_gene': 'DGKZP1', 'score': 0.25}, {'connected_gene': 'LINC00284', 'score': 0.14}, {'connected_gene': 'ENSG00000281883', 'score': 0.12}]