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
ENST00000221566	[[2754711, 2755931], [2757334, 2757455], [2757690, 2757780], [2759254, 2759292], [2761457, 2761520], [2762503, 2762642], [2763650, 2763755], [2765183, 2765283], [2767133, 2767218], [2767577, 2767684], [2768966, 2769089], [2783230, 2783369]]	[[2757340, 2757455], [2757690, 2757780], [2759254, 2759292], [2761457, 2761520], [2762503, 2762642], [2763650, 2763755], [2765183, 2765283], [2767133, 2767218], [2767577, 2767684], [2768966, 2769066]]
ENST00000591984	[[2755546, 2755931], [2757334, 2757455], [2757690, 2757780], [2759254, 2759540]]	None
ENST00000589251	[[2763660, 2763755], [2765183, 2765283], [2767133, 2767218], [2767577, 2767684], [2768966, 2769089], [2782567, 2782656], [2783230, 2783268]]	[[2763660, 2763755], [2765183, 2765283], [2767133, 2767218], [2767577, 2767684], [2768966, 2769066]]
ENST00000587866	[[2767579, 2767684], [2768966, 2769089], [2770166, 2770779]]	[[2767579, 2767684], [2768966, 2769066]]
ENST00000586711	[[2777490, 2778011], [2783230, 2783280]]	None
NM_003021	[[2754711, 2755931], [2757334, 2757455], [2757690, 2757780], [2759254, 2759292], [2761457, 2761520], [2762503, 2762642], [2763650, 2763755], [2765183, 2765283], [2767133, 2767218], [2767577, 2767684], [2768966, 2769089], [2783230, 2783354]]	[[2757340, 2757455], [2757690, 2757780], [2759254, 2759292], [2761457, 2761520], [2762503, 2762642], [2763650, 2763755], [2765183, 2765283], [2767133, 2767218], [2767577, 2767684], [2768966, 2769066]]

Promoter

Chrom	Start	End	Description
chr19	2783255	2783301	CAGE_peak_1_at_SGTA_5end
chr19	2783306	2783346	CAGE_peak_2_at_SGTA_5end
chr19	2783363	2783372	CAGE_peak_3_at_SGTA_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I002781	2781896	2786763	2.3	[{'connected_gene': 'THOP1', 'score': 580.24}, {'connected_gene': 'SGTA', 'score': 550.77}, {'connected_gene': 'ZNF554', 'score': 33.26}, {'connected_gene': 'SF3A2', 'score': 17.17}, {'connected_gene': 'APBA3', 'score': 16.52}, {'connected_gene': 'CACTIN-AS1', 'score': 13.73}, {'connected_gene': 'LOC100288123', 'score': 13.14}, {'connected_gene': 'ENSG00000267139', 'score': 10.12}, {'connected_gene': 'MOB3A', 'score': 9.91}, {'connected_gene': 'DOT1L', 'score': 9.68}]
chr19	GH19I002760	2760277	2762164	0.49	[{'connected_gene': 'THOP1', 'score': 17.36}, {'connected_gene': 'SLC39A3', 'score': 12.67}, {'connected_gene': 'DIRAS1', 'score': 11.89}, {'connected_gene': 'ZNF57', 'score': 11.1}, {'connected_gene': 'LOC101928631', 'score': 11.08}, {'connected_gene': 'ZNF554', 'score': 8.16}, {'connected_gene': 'GC19M002766', 'score': 0.44}, {'connected_gene': 'GC19M002753', 'score': 0.44}, {'connected_gene': 'SGTA', 'score': 0.34}]
chr19	GH19I002769	2769198	2772879	1.2	[{'connected_gene': 'THOP1', 'score': 18.48}, {'connected_gene': 'ZNF554', 'score': 8.14}, {'connected_gene': 'DIRAS1', 'score': 3.34}, {'connected_gene': 'AES', 'score': 2.54}, {'connected_gene': 'GC19M002770', 'score': 0.77}, {'connected_gene': 'PIR59751', 'score': 0.77}, {'connected_gene': 'GC19P002768', 'score': 0.77}, {'connected_gene': 'SGTA', 'score': 0.39}]
chr19	GH19I003034	3034010	3037648	1.77	[{'connected_gene': 'CACTIN', 'score': 32.47}, {'connected_gene': 'ZNF77', 'score': 31.72}, {'connected_gene': 'SF3A2', 'score': 24.91}, {'connected_gene': 'CACTIN-AS1', 'score': 20.66}, {'connected_gene': 'ZNF554', 'score': 14.12}, {'connected_gene': 'AP3D1', 'score': 12.98}, {'connected_gene': 'APBA3', 'score': 11.56}, {'connected_gene': 'DOHH', 'score': 3.12}, {'connected_gene': 'THOP1', 'score': 3.04}, {'connected_gene': 'SGTA', 'score': 2.4}, {'connected_gene': 'NCLN', 'score': 2.0}, {'connected_gene': 'TLE2', 'score': 1.78}, {'connected_gene': 'TLE6', 'score': 1.62}, {'connected_gene': 'SLC39A3', 'score': 1.27}, {'connected_gene': 'GC19M003020', 'score': 0.39}]
chr19	GH19I002701	2701101	2703352	2.05	[{'connected_gene': 'GNG7', 'score': 558.5}, {'connected_gene': 'ENSG00000276097', 'score': 550.77}, {'connected_gene': 'SF3A2', 'score': 41.57}, {'connected_gene': 'CACTIN', 'score': 34.48}, {'connected_gene': 'ZNF77', 'score': 32.35}, {'connected_gene': 'CACTIN-AS1', 'score': 32.05}, {'connected_gene': 'LOC100288123', 'score': 28.65}, {'connected_gene': 'ZNF555', 'score': 13.27}, {'connected_gene': 'SGTA', 'score': 12.05}, {'connected_gene': 'ATP8B3', 'score': 11.96}, {'connected_gene': 'ENSG00000267139', 'score': 11.91}, {'connected_gene': 'TLE2', 'score': 11.9}, {'connected_gene': 'GNA11', 'score': 11.33}, {'connected_gene': 'CSNK1G2', 'score': 11.2}, {'connected_gene': 'DOT1L', 'score': 10.78}, {'connected_gene': 'ENSG00000267283', 'score': 10.25}, {'connected_gene': 'SPPL2B', 'score': 10.25}, {'connected_gene': 'ENSG00000261342', 'score': 10.01}, {'connected_gene': 'THOP1', 'score': 9.98}, {'connected_gene': 'C19orf71', 'score': 9.86}, {'connected_gene': 'DIRAS1', 'score': 5.78}]
chr19	GH19I003093	3093601	3100562	2.16	[{'connected_gene': 'GNA11', 'score': 557.92}, {'connected_gene': 'CACTIN', 'score': 13.16}, {'connected_gene': 'ZNF77', 'score': 12.55}, {'connected_gene': 'SGTA', 'score': 11.93}, {'connected_gene': 'LMNB2', 'score': 10.88}, {'connected_gene': 'THOP1', 'score': 9.86}, {'connected_gene': 'ENSG00000261342', 'score': 9.74}, {'connected_gene': 'GC19M003098', 'score': 0.77}]
chr19	GH19I002773	2773929	2776818	1.44	[{'connected_gene': 'GC19P002776', 'score': 550.77}, {'connected_gene': 'GC19M002770', 'score': 550.77}, {'connected_gene': 'THOP1', 'score': 19.09}, {'connected_gene': 'SF3A2', 'score': 13.65}, {'connected_gene': 'CACTIN-AS1', 'score': 12.24}, {'connected_gene': 'ZNF77', 'score': 11.63}, {'connected_gene': 'APBA3', 'score': 11.56}, {'connected_gene': 'GADD45B', 'score': 11.38}, {'connected_gene': 'CACTIN', 'score': 11.37}, {'connected_gene': 'LOC100288123', 'score': 10.18}, {'connected_gene': 'GNA15', 'score': 7.22}, {'connected_gene': 'SGTA', 'score': 6.44}, {'connected_gene': 'ZNF554', 'score': 5.27}, {'connected_gene': 'GC19P002768', 'score': 0.44}]
chr19	GH19I002777	2777673	2778303	0.51	[{'connected_gene': 'GC19P002776', 'score': 550.77}, {'connected_gene': 'THOP1', 'score': 18.98}, {'connected_gene': 'SGTA', 'score': 0.44}, {'connected_gene': 'GC19P002768', 'score': 0.39}]
chr19	GH19I002487	2487749	2490071	1.38	[{'connected_gene': 'GC19P002492', 'score': 550.77}, {'connected_gene': 'ATP8B3', 'score': 5.37}, {'connected_gene': 'BTBD2', 'score': 4.1}, {'connected_gene': 'MOB3A', 'score': 2.35}, {'connected_gene': 'PLEKHJ1', 'score': 2.16}, {'connected_gene': 'TIMM13', 'score': 1.83}, {'connected_gene': 'SGTA', 'score': 1.7}, {'connected_gene': 'SF3A2', 'score': 1.4}, {'connected_gene': 'PIR42747', 'score': 0.77}]