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
ENST00000408953	[[159820154, 159822546], [159826645, 159827104]]	[[159820712, 159822497]]
ENST00000523213	[[159820534, 159822546], [159824448, 159824522], [159826645, 159827043]]	[[159820712, 159822497]]
NM_001303251	[[159820154, 159822546], [159824448, 159824522], [159826645, 159827104]]	[[159820712, 159822497]]
NM_022090	[[159820154, 159822546], [159826645, 159827104]]	[[159820712, 159822497]]

Promoter

Chrom	Start	End	Description
chr5	159826785	159826788	CAGE_peak_3_at_C5orf54_5end
chr5	159827033	159827070	CAGE_peak_1_at_C5orf54_5end
chr5	159827073	159827097	CAGE_peak_2_at_C5orf54_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I160183	160183116	160183964	0.31	[{'connected_gene': 'CCNJL', 'score': 10.47}, {'connected_gene': 'ZBED8', 'score': 9.97}, {'connected_gene': 'C1QTNF2', 'score': 9.89}, {'connected_gene': 'FABP6', 'score': 8.35}, {'connected_gene': 'GC05P160140', 'score': 0.26}]
chr5	GH05I160181	160181671	160182748	0.57	[{'connected_gene': 'CCNJL', 'score': 10.47}, {'connected_gene': 'ZBED8', 'score': 9.97}, {'connected_gene': 'C1QTNF2', 'score': 9.89}, {'connected_gene': 'FABP6', 'score': 9.05}, {'connected_gene': 'GC05P160140', 'score': 0.26}]
chr5	GH05I160315	160315451	160317104	1.05	[{'connected_gene': 'CCNJL', 'score': 11.89}, {'connected_gene': 'ZBED8', 'score': 10.73}, {'connected_gene': 'C1QTNF2', 'score': 10.68}, {'connected_gene': 'SNRPEP1', 'score': 0.39}, {'connected_gene': 'GC05P160291', 'score': 0.34}]
chr5	GH05I160375	160375774	160377081	0.51	[{'connected_gene': 'CCNJL', 'score': 11.94}, {'connected_gene': 'ZBED8', 'score': 11.39}, {'connected_gene': 'GC05P160384', 'score': 0.44}, {'connected_gene': 'C1QTNF2', 'score': 0.44}]
chr5	GH05I160069	160069382	160069530	0.22	[{'connected_gene': 'CCNJL', 'score': 10.85}, {'connected_gene': 'ZBED8', 'score': 10.71}, {'connected_gene': 'GC05P160046', 'score': 0.34}, {'connected_gene': 'PWWP2A', 'score': 0.23}]
chr5	GH05I160008	160008390	160010648	2.09	[{'connected_gene': 'TTC1', 'score': 557.96}, {'connected_gene': 'ENSG00000199398', 'score': 550.77}, {'connected_gene': 'GC05P160010', 'score': 550.77}, {'connected_gene': 'ZBED8', 'score': 149.79}, {'connected_gene': 'PWWP2A', 'score': 90.77}, {'connected_gene': 'EBF1', 'score': 42.67}, {'connected_gene': 'C1QTNF2', 'score': 36.97}, {'connected_gene': 'LINC02202', 'score': 31.09}, {'connected_gene': 'RNF145', 'score': 26.68}, {'connected_gene': 'ENSG00000223908', 'score': 10.84}, {'connected_gene': 'FABP6', 'score': 5.69}]
chr5	GH05I160063	160063361	160066371	0.76	[{'connected_gene': 'ZBED8', 'score': 11.62}, {'connected_gene': 'CCNJL', 'score': 10.85}, {'connected_gene': 'C1QTNF2', 'score': 10.45}, {'connected_gene': 'PWWP2A', 'score': 6.16}, {'connected_gene': 'GC05P160046', 'score': 0.37}, {'connected_gene': 'TTC1', 'score': 0.22}]
chr5	GH05I160082	160082436	160084424	0.85	[{'connected_gene': 'ZBED8', 'score': 11.12}, {'connected_gene': 'FABP6', 'score': 11.03}, {'connected_gene': 'CCNJL', 'score': 10.91}, {'connected_gene': 'PWWP2A', 'score': 0.28}, {'connected_gene': 'GC05P160046', 'score': 0.28}]
chr5	GH05I160163	160163993	160168774	1.63	[{'connected_gene': 'ZBED8', 'score': 15.36}, {'connected_gene': 'C1QTNF2', 'score': 10.98}, {'connected_gene': 'FABP6', 'score': 8.65}, {'connected_gene': 'TTC1', 'score': 7.28}, {'connected_gene': 'PWWP2A', 'score': 5.75}, {'connected_gene': 'GC05P160140', 'score': 0.31}]
chr5	GH05I159992	159992227	159992391	0.4	[{'connected_gene': 'ZBED8', 'score': 15.39}, {'connected_gene': 'PWWP2A', 'score': 13.07}, {'connected_gene': 'GC05P159980', 'score': 0.39}, {'connected_gene': 'GC05P160010', 'score': 0.37}]
chr5	GH05I160398	160398835	160401007	2	[{'connected_gene': 'ZBED8', 'score': 561.2}, {'connected_gene': 'GC05M160381', 'score': 0.77}]
chr5	GH05I160333	160333563	160334267	0.46	[{'connected_gene': 'FABP6', 'score': 10.87}, {'connected_gene': 'C1QTNF2', 'score': 10.84}, {'connected_gene': 'ZBED8', 'score': 10.83}, {'connected_gene': 'GC05P160327', 'score': 0.44}, {'connected_gene': 'CCNJL', 'score': 0.39}]
chr5	GH05I160187	160187084	160189403	1.54	[{'connected_gene': 'FABP6', 'score': 559.12}, {'connected_gene': 'PWWP2A', 'score': 13.02}, {'connected_gene': 'CCNJL', 'score': 11.53}, {'connected_gene': 'ZBED8', 'score': 10.19}, {'connected_gene': 'LOC105377690', 'score': 0.34}, {'connected_gene': 'GC05P160140', 'score': 0.25}]
chr5	GH05I160197	160197094	160198591	1.17	[{'connected_gene': 'FABP6', 'score': 11.57}, {'connected_gene': 'PWWP2A', 'score': 10.71}, {'connected_gene': 'ZBED8', 'score': 10.26}, {'connected_gene': 'RNF145', 'score': 10.18}, {'connected_gene': 'LOC105377690', 'score': 0.39}]
chr5	GH05I160304	160304474	160308179	0.31	[{'connected_gene': 'C1QTNF2', 'score': 16.25}, {'connected_gene': 'CCNJL', 'score': 12.1}, {'connected_gene': 'ZBED8', 'score': 10.3}, {'connected_gene': 'GC05P160291', 'score': 0.39}, {'connected_gene': 'SNRPEP1', 'score': 0.34}]
chr5	GH05I160356	160356199	160359081	0.71	[{'connected_gene': 'C1QTNF2', 'score': 26.58}, {'connected_gene': 'ZBED8', 'score': 10.64}, {'connected_gene': 'CCNJL', 'score': 0.39}]
chr5	GH05I160071	160071337	160072358	0.51	[{'connected_gene': 'PWWP2A', 'score': 11.77}, {'connected_gene': 'CCNJL', 'score': 10.97}, {'connected_gene': 'ZBED8', 'score': 10.71}, {'connected_gene': 'C1QTNF2', 'score': 10.45}, {'connected_gene': 'GC05P160046', 'score': 0.34}]
chr5	GH05I160080	160080299	160081690	1.09	[{'connected_gene': 'PWWP2A', 'score': 21.86}, {'connected_gene': 'FABP6', 'score': 18.13}, {'connected_gene': 'CCNJL', 'score': 11.36}, {'connected_gene': 'ZBED8', 'score': 10.31}, {'connected_gene': 'GC05P160046', 'score': 0.29}]
chr5	GH05I160417	160417808	160420557	1.99	[{'connected_gene': 'SLU7', 'score': 561.58}, {'connected_gene': 'PTTG1', 'score': 17.08}, {'connected_gene': 'ZBED8', 'score': 0.37}]
chr5	GH05I160438	160438201	160439883	1.3	[{'connected_gene': 'SLU7', 'score': 6.52}, {'connected_gene': 'ZBED8', 'score': 5.39}, {'connected_gene': 'GC05P160436', 'score': 0.77}, {'connected_gene': 'GC05M160421', 'score': 0.44}, {'connected_gene': 'GC05P160447', 'score': 0.44}]