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
ENST00000368149	[[129897276, 129899749], [129901214, 129901276], [129905132, 129905257], [129920360, 129920501], [129921786, 129921993], [129927021, 129927104], [129929037, 129929197], [129932677, 129932755], [129937356, 129937448], [129939831, 129939997], [129950497, 129950667], [129955186, 129955250], [129959538, 129959774], [129962960, 129963163], [130031168, 130031370]]	[[129899657, 129899749], [129901214, 129901276], [129905132, 129905257], [129920360, 129920501], [129921786, 129921993], [129927021, 129927104], [129929037, 129929197], [129932677, 129932755], [129937356, 129937448], [129939831, 129939997], [129950497, 129950667], [129955186, 129955250], [129959538, 129959774], [129962960, 129963163], [130031168, 130031281]]
ENST00000483367	[[129899563, 129899749], [129901214, 129901276], [129905132, 129905257], [129917933, 129918020]]	None
ENST00000463225	[[129899563, 129899749], [129901214, 129901276], [129905132, 129905257], [129920015, 129920106]]	None
NM_033515	[[129898239, 129899749], [129901214, 129901276], [129905132, 129905257], [129920360, 129920501], [129921786, 129921993], [129927021, 129927104], [129929037, 129929197], [129932677, 129932755], [129937356, 129937448], [129939831, 129939997], [129950497, 129950667], [129955186, 129955250], [129959538, 129959774], [129962960, 129963163], [130031168, 130031370]]	[[129899657, 129899749], [129901214, 129901276], [129905132, 129905257], [129920360, 129920501], [129921786, 129921993], [129927021, 129927104], [129929037, 129929197], [129932677, 129932755], [129937356, 129937448], [129939831, 129939997], [129950497, 129950667], [129955186, 129955250], [129959538, 129959774], [129962960, 129963163], [130031168, 130031281]]

Promoter

Chrom	Start	End	Description
chr6	130031298	130031345	CAGE_peak_1_at_ARHGAP18_5end
chr6	130031358	130031378	CAGE_peak_2_at_ARHGAP18_5end
chr6	130031479	130031493	CAGE_peak_3_at_ARHGAP18_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I129700	129700540	129703501	1.31	[{'connected_gene': 'ARHGAP18', 'score': 8.86}, {'connected_gene': 'L3MBTL3', 'score': 1.34}, {'connected_gene': 'LOC102723409', 'score': 0.11}]
chr6	GH06I129707	129707447	129711213	2.45	[{'connected_gene': 'ARHGAP18', 'score': 563.51}, {'connected_gene': 'L3MBTL3', 'score': 12.83}, {'connected_gene': 'ENSG00000227678', 'score': 10.99}, {'connected_gene': 'LOC102723409', 'score': 0.1}]
chr6	GH06I129643	129643102	129649203	1.54	[{'connected_gene': 'ARHGAP18', 'score': 17.27}, {'connected_gene': 'LOC102723409', 'score': 0.16}]
chr6	GH06I129695	129695031	129697452	1.54	[{'connected_gene': 'ARHGAP18', 'score': 3.1}, {'connected_gene': 'LOC102723409', 'score': 0.11}]
chr6	GH06I129704	129704142	129705404	1.21	[{'connected_gene': 'ARHGAP18', 'score': 6.21}, {'connected_gene': 'LOC102723409', 'score': 0.1}]
chr6	GH06I129544	129544319	129546045	0.2	[{'connected_gene': 'ARHGAP18', 'score': 5.33}, {'connected_gene': 'LOC102723409', 'score': 0.44}, {'connected_gene': 'GC06M129493', 'score': 0.23}]
chr6	GH06I129699	129699756	129700001	0.96	[{'connected_gene': 'ARHGAP18', 'score': 0.39}, {'connected_gene': 'LOC102723409', 'score': 0.11}]
chr6	GH06I129677	129677264	129690196	1.82	[{'connected_gene': 'ARHGAP18', 'score': 18.22}, {'connected_gene': 'RPL5P21', 'score': 11.81}, {'connected_gene': 'L3MBTL3', 'score': 11.18}, {'connected_gene': 'LOC102723409', 'score': 0.12}]
chr6	GH06I129495	129495688	129495847	0.44	[{'connected_gene': 'ARHGAP18', 'score': 11.98}, {'connected_gene': 'RPL5P21', 'score': 10.85}, {'connected_gene': 'GC06M129493', 'score': 0.77}, {'connected_gene': 'LOC102723409', 'score': 0.22}, {'connected_gene': 'LAMA2', 'score': 0.03}]
chr6	GH06I129657	129657331	129658372	0.2	[{'connected_gene': 'ARHGAP18', 'score': 11.22}, {'connected_gene': 'RPL5P21', 'score': 10.94}, {'connected_gene': 'LOC102723409', 'score': 0.15}]
chr6	GH06I129634	129634914	129639900	1.2	[{'connected_gene': 'ARHGAP18', 'score': 11.17}, {'connected_gene': 'RPL5P21', 'score': 10.76}, {'connected_gene': 'LOC102723409', 'score': 0.18}]
chr6	GH06I129622	129622656	129624252	0.65	[{'connected_gene': 'ARHGAP18', 'score': 12.21}, {'connected_gene': 'RPL5P21', 'score': 11.38}, {'connected_gene': 'LOC102723409', 'score': 0.19}]
chr6	GH06I129653	129653011	129656928	0.54	[{'connected_gene': 'ARHGAP18', 'score': 11.67}, {'connected_gene': 'RPL5P21', 'score': 10.66}, {'connected_gene': 'LOC102723409', 'score': 0.15}]
chr6	GH06I129664	129664892	129669198	1.4	[{'connected_gene': 'ARHGAP18', 'score': 11.68}, {'connected_gene': 'RPL5P21', 'score': 11.17}, {'connected_gene': 'LOC102723409', 'score': 0.14}]
chr6	GH06I129659	129659520	129661271	1.27	[{'connected_gene': 'ARHGAP18', 'score': 11.73}, {'connected_gene': 'RPL5P21', 'score': 10.56}, {'connected_gene': 'LOC102723409', 'score': 0.14}]
chr6	GH06I129640	129640983	129642616	0.96	[{'connected_gene': 'ARHGAP18', 'score': 11.17}, {'connected_gene': 'RPL5P21', 'score': 10.24}, {'connected_gene': 'LOC102723409', 'score': 0.17}]
chr6	GH06I129606	129606964	129608229	0.72	[{'connected_gene': 'ARHGAP18', 'score': 11.86}, {'connected_gene': 'RPL5P21', 'score': 11.64}, {'connected_gene': 'LOC102723409', 'score': 0.23}]
chr6	GH06I129650	129650210	129652483	1.17	[{'connected_gene': 'ARHGAP18', 'score': 11.67}, {'connected_gene': 'RPL5P21', 'score': 10.65}, {'connected_gene': 'LOC102723409', 'score': 0.15}]
chr6	GH06I129670	129670702	129676101	1.65	[{'connected_gene': 'ARHGAP18', 'score': 13.69}, {'connected_gene': 'RPL5P21', 'score': 11.17}, {'connected_gene': 'LOC102723409', 'score': 0.13}]
chr6	GH06I129608	129608781	129610515	0.54	[{'connected_gene': 'ARHGAP18', 'score': 11.86}, {'connected_gene': 'RPL5P21', 'score': 11.64}, {'connected_gene': 'LOC102723409', 'score': 0.22}]
chr6	GH06I129661	129661475	129664583	1.53	[{'connected_gene': 'ARHGAP18', 'score': 14.5}, {'connected_gene': 'RPL5P21', 'score': 10.7}, {'connected_gene': 'LOC102723409', 'score': 0.14}]
chr6	GH06I129713	129713936	129714045	0.51	[{'connected_gene': 'ARHGAP18', 'score': 0.77}, {'connected_gene': 'RPL5P21', 'score': 0.26}]
chr6	GH06I129743	129743073	129746027	1.29	[{'connected_gene': 'ARHGAP18', 'score': 10.93}, {'connected_gene': 'RPL5P21', 'score': 0.39}]
chr6	GH06I129691	129691096	129693782	1.1	[{'connected_gene': 'L3MBTL3', 'score': 9.78}, {'connected_gene': 'ARHGAP18', 'score': 4.79}, {'connected_gene': 'LOC102723409', 'score': 0.12}]
chr6	GH06I130017	130017901	130021785	2.26	[{'connected_gene': 'L3MBTL3', 'score': 561.77}, {'connected_gene': 'RPL5P21', 'score': 11.06}, {'connected_gene': 'ARHGAP18', 'score': 10.02}, {'connected_gene': 'SAMD3', 'score': 2.17}, {'connected_gene': 'LOC105378000', 'score': 0.15}]
chr6	GH06I129575	129575201	129576118	0.91	[{'connected_gene': 'LOC102723409', 'score': 0.34}, {'connected_gene': 'ARHGAP18', 'score': 0.12}]
chr6	GH06I129497	129497286	129503594	1.62	[{'connected_gene': 'RPL5P21', 'score': 10.85}, {'connected_gene': 'ARHGAP18', 'score': 9.84}, {'connected_gene': 'GC06M129493', 'score': 0.44}, {'connected_gene': 'LOC102723409', 'score': 0.23}, {'connected_gene': 'LAMA2', 'score': 0.03}]
chr6	GH06I129598	129598201	129598601	0.96	[{'connected_gene': 'RPL5P21', 'score': 11.48}, {'connected_gene': 'ARHGAP18', 'score': 10.96}, {'connected_gene': 'LOC102723409', 'score': 0.25}]
chr6	GH06I129730	129730182	129732265	1.3	[{'connected_gene': 'RPL5P21', 'score': 12.52}, {'connected_gene': 'ARHGAP18', 'score': 0.34}]
chr6	GH06I129729	129729161	129729503	0.5	[{'connected_gene': 'RPL5P21', 'score': 12.52}, {'connected_gene': 'ARHGAP18', 'score': 0.37}]
chr6	GH06I129716	129716996	129717809	1.1	[{'connected_gene': 'RPL5P21', 'score': 11.58}, {'connected_gene': 'ARHGAP18', 'score': 4.79}]
chr6	GH06I129747	129747059	129752565	1.66	[{'connected_gene': 'RPL5P21', 'score': 0.44}, {'connected_gene': 'ARHGAP18', 'score': 0.28}]
chr6	GH06I129590	129590248	129591483	0.43	[{'connected_gene': 'RPL5P21', 'score': 11.61}, {'connected_gene': 'LOC102723409', 'score': 0.28}, {'connected_gene': 'ARHGAP18', 'score': 0.13}]
chr6	GH06I129534	129534196	129534563	0.42	[{'connected_gene': 'ENSG00000233351', 'score': 10.69}, {'connected_gene': 'ARHGAP18', 'score': 1.39}, {'connected_gene': 'LOC102723409', 'score': 0.37}, {'connected_gene': 'GC06M129493', 'score': 0.26}]
chr6	GH06I129565	129565536	129565685	0.31	[{'connected_gene': 'ENSG00000233351', 'score': 10.45}, {'connected_gene': 'LOC102723409', 'score': 0.39}, {'connected_gene': 'ARHGAP18', 'score': 0.11}]
chr6	GH06I129488	129488806	129495188	1.75	[{'connected_gene': 'GC06M129493', 'score': 550.77}, {'connected_gene': 'RPL5P21', 'score': 10.84}, {'connected_gene': 'ARHGAP18', 'score': 9.84}, {'connected_gene': 'ENSG00000233351', 'score': 5.89}, {'connected_gene': 'LAMA2', 'score': 0.03}]