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
ENST00000502798	[[75378996, 75379337], [75427474, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75621188, 75625904]]	[[75427575, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75621188, 75621372]]
ENST00000322285	[[75379238, 75379337], [75427474, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75648954, 75649764]]	[[75427575, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75648954, 75648985]]
ENST00000506257	[[75587589, 75587681], [75591602, 75591947]]	None
NM_014979	[[75379238, 75379337], [75427474, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75621188, 75629781]]	[[75427575, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75621188, 75621372]]
NM_001297716	[[75379238, 75379337], [75427474, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75648954, 75649764]]	[[75427575, 75428155], [75490743, 75490924], [75505560, 75505712], [75580986, 75581120], [75581605, 75581695], [75587045, 75587156], [75587592, 75587681], [75591602, 75591767], [75594618, 75594752], [75596553, 75596757], [75597210, 75597370], [75648954, 75648985]]

Promoter

Chrom	Start	End	Description
chr5	75379067	75379080	CAGE_peak_5_at_SV2C_5end
chr5	75379091	75379100	CAGE_peak_6_at_SV2C_5end
chr5	75379158	75379169	CAGE_peak_4_at_SV2C_5end
chr5	75379172	75379184	CAGE_peak_3_at_SV2C_5end
chr5	75379186	75379220	CAGE_peak_1_at_SV2C_5end
chr5	75379224	75379243	CAGE_peak_2_at_SV2C_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I076174	76174825	76176737	1.09	[{'connected_gene': 'RAP1BL', 'score': 550.77}, {'connected_gene': 'SV2C', 'score': 10.88}, {'connected_gene': 'LOC105379041', 'score': 10.88}, {'connected_gene': 'LOC100132039', 'score': 10.88}, {'connected_gene': 'SAP18P1', 'score': 10.87}, {'connected_gene': 'GC05M076242', 'score': 0.2}]
chr5	GH05I076175	76174200	76174401	0.5	[{'connected_gene': 'RAP1BL', 'score': 550.77}, {'connected_gene': 'ENSG00000251668', 'score': 0.77}, {'connected_gene': 'SV2C', 'score': 0.16}]
chr5	GH05I076198	76197216	76197365	0.46	[{'connected_gene': 'SV2C', 'score': 10.94}, {'connected_gene': 'LOC105379041', 'score': 10.94}, {'connected_gene': 'LOC100132039', 'score': 10.93}, {'connected_gene': 'SAP18P1', 'score': 10.93}, {'connected_gene': 'RAP1BL', 'score': 0.34}, {'connected_gene': 'GC05M076242', 'score': 0.25}]
chr5	GH05I076197	76197016	76197165	0.43	[{'connected_gene': 'SV2C', 'score': 10.94}, {'connected_gene': 'LOC105379041', 'score': 10.94}, {'connected_gene': 'LOC100132039', 'score': 10.93}, {'connected_gene': 'SAP18P1', 'score': 10.93}, {'connected_gene': 'RAP1BL', 'score': 0.34}, {'connected_gene': 'GC05M076242', 'score': 0.25}]
chr5	GH05I076191	76191716	76193345	0.31	[{'connected_gene': 'SV2C', 'score': 10.69}, {'connected_gene': 'LOC105379041', 'score': 10.69}, {'connected_gene': 'LOC100132039', 'score': 10.68}, {'connected_gene': 'SAP18P1', 'score': 10.67}, {'connected_gene': 'RAP1BL', 'score': 0.37}, {'connected_gene': 'GC05M076242', 'score': 0.25}]
chr5	GH05I076180	76180440	76182361	1.05	[{'connected_gene': 'SV2C', 'score': 10.88}, {'connected_gene': 'LOC105379041', 'score': 10.88}, {'connected_gene': 'LOC100132039', 'score': 10.87}, {'connected_gene': 'SAP18P1', 'score': 10.86}, {'connected_gene': 'RAP1BL', 'score': 0.44}, {'connected_gene': 'GC05M076242', 'score': 0.21}]
chr5	GH05I075738	75738416	75738744	0.22	[{'connected_gene': 'POC5', 'score': 11.15}, {'connected_gene': 'RNU6-680P', 'score': 10.25}, {'connected_gene': 'SAP18P1', 'score': 10.0}, {'connected_gene': 'LOC105379041', 'score': 9.99}, {'connected_gene': 'SV2C', 'score': 9.99}, {'connected_gene': 'LOC100132039', 'score': 9.99}, {'connected_gene': 'ANKDD1B', 'score': 5.29}, {'connected_gene': 'GC05M075753', 'score': 0.39}, {'connected_gene': 'GC05P075723', 'score': 0.37}]
chr5	GH05I076426	76425765	76427679	0.89	[{'connected_gene': 'IQGAP2', 'score': 21.99}, {'connected_gene': 'ENSG00000272040', 'score': 12.93}, {'connected_gene': 'POC5', 'score': 9.76}, {'connected_gene': 'SAP18P1', 'score': 9.39}, {'connected_gene': 'LOC100132039', 'score': 9.39}, {'connected_gene': 'SV2C', 'score': 9.39}, {'connected_gene': 'LOC105379041', 'score': 9.39}, {'connected_gene': 'LOC101060043', 'score': 0.18}]
chr5	GH05I076324	76324494	76328648	0.77	[{'connected_gene': 'IQGAP2', 'score': 10.98}, {'connected_gene': 'PIR42219', 'score': 0.77}, {'connected_gene': 'LOC105379042', 'score': 0.37}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5	GH05I076292	76292996	76293225	0.68	[{'connected_gene': 'IQGAP2', 'score': 2.94}, {'connected_gene': 'GC05P076281', 'score': 0.39}, {'connected_gene': 'LOC105379042', 'score': 0.37}, {'connected_gene': 'SV2C', 'score': 0.08}]
chr5	GH05I076337	76337616	76338485	0.9	[{'connected_gene': 'IQGAP2', 'score': 11.94}, {'connected_gene': 'LOC105379042', 'score': 11.76}, {'connected_gene': 'ENSG00000272040', 'score': 10.1}, {'connected_gene': 'GC05P076333', 'score': 0.44}, {'connected_gene': 'SNRPCP2', 'score': 0.28}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5	GH05I076425	76425001	76425200	0.4	[{'connected_gene': 'SAP18P1', 'score': 9.39}, {'connected_gene': 'LOC100132039', 'score': 9.39}, {'connected_gene': 'SV2C', 'score': 9.39}, {'connected_gene': 'LOC105379041', 'score': 9.39}, {'connected_gene': 'IQGAP2', 'score': 0.34}, {'connected_gene': 'LOC101060043', 'score': 0.17}]
chr5	GH05I076379	76379401	76379600	0.63	[{'connected_gene': 'LOC105379042', 'score': 10.49}, {'connected_gene': 'SV2C', 'score': 8.94}, {'connected_gene': 'LOC105379041', 'score': 8.94}, {'connected_gene': 'SAP18P1', 'score': 8.94}, {'connected_gene': 'LOC100132039', 'score': 8.94}, {'connected_gene': 'GC05P076377', 'score': 0.77}, {'connected_gene': 'GC05P076385', 'score': 0.77}]
chr5	GH05I076290	76290160	76291585	0.57	[{'connected_gene': 'LOC105379042', 'score': 10.94}, {'connected_gene': 'GC05P076281', 'score': 0.44}, {'connected_gene': 'SV2C', 'score': 0.08}]
chr5	GH05I076283	76283796	76283945	0.31	[{'connected_gene': 'LOC105379042', 'score': 11.35}, {'connected_gene': 'GC05P076281', 'score': 0.77}, {'connected_gene': 'SV2C', 'score': 0.08}]
chr5	GH05I076319	76319586	76320425	0.9	[{'connected_gene': 'LOC105379042', 'score': 0.44}, {'connected_gene': 'PIR42219', 'score': 0.39}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5	GH05I076273	76273315	76274245	0.66	[{'connected_gene': 'LOC105379042', 'score': 11.41}, {'connected_gene': 'LOC105379041', 'score': 10.65}, {'connected_gene': 'SV2C', 'score': 10.65}, {'connected_gene': 'SAP18P1', 'score': 10.65}, {'connected_gene': 'LOC100132039', 'score': 10.65}, {'connected_gene': 'PDCD5P2', 'score': 0.44}, {'connected_gene': 'HMGN2P4', 'score': 0.29}]
chr5	GH05I076082	76082609	76085074	1.5	[{'connected_gene': 'LOC105379041', 'score': 569.07}, {'connected_gene': 'SV2C', 'score': 550.77}]
chr5	GH05I076303	76303864	76304350	1.16	[{'connected_gene': 'LOC105379041', 'score': 9.62}, {'connected_gene': 'SAP18P1', 'score': 9.62}, {'connected_gene': 'LOC100132039', 'score': 9.62}, {'connected_gene': 'SV2C', 'score': 9.62}, {'connected_gene': 'IQGAP2', 'score': 3.09}, {'connected_gene': 'LOC105379042', 'score': 0.44}, {'connected_gene': 'GC05P076281', 'score': 0.34}]
chr5	GH05I076304	76304402	76306000	0.6	[{'connected_gene': 'LOC105379041', 'score': 15.31}, {'connected_gene': 'SAP18P1', 'score': 9.62}, {'connected_gene': 'LOC100132039', 'score': 9.62}, {'connected_gene': 'SV2C', 'score': 9.62}, {'connected_gene': 'LOC105379042', 'score': 0.44}, {'connected_gene': 'GC05P076281', 'score': 0.34}]
chr5	GH05I076037	76037580	76038200	0.64	[{'connected_gene': 'LOC105379041', 'score': 28.31}, {'connected_gene': 'SAP18P1', 'score': 10.9}, {'connected_gene': 'LOC100132039', 'score': 10.89}, {'connected_gene': 'SV2C', 'score': 10.87}, {'connected_gene': 'LOC100996384', 'score': 0.16}]
chr5	GH05I076256	76256201	76256632	0.93	[{'connected_gene': 'LOC100132039', 'score': 11.37}, {'connected_gene': 'SV2C', 'score': 11.37}, {'connected_gene': 'LOC105379041', 'score': 11.37}, {'connected_gene': 'SAP18P1', 'score': 11.37}, {'connected_gene': 'HMGN2P4', 'score': 0.39}, {'connected_gene': 'PDCD5P2', 'score': 0.34}]
chr5	GH05I076333	76332776	76332865	0.38	[{'connected_gene': 'PIR42219', 'score': 550.77}, {'connected_gene': 'GC05P076333', 'score': 550.77}, {'connected_gene': 'POLK', 'score': 11.99}, {'connected_gene': 'IQGAP2', 'score': 11.92}, {'connected_gene': 'LOC105379042', 'score': 11.79}, {'connected_gene': 'POC5', 'score': 11.02}, {'connected_gene': 'ENSG00000272040', 'score': 10.93}, {'connected_gene': 'SNRPCP2', 'score': 0.26}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5	GH05I076331	76331005	76332385	0.69	[{'connected_gene': 'GC05P076333', 'score': 550.77}, {'connected_gene': 'PIR42219', 'score': 550.77}, {'connected_gene': 'IQGAP2', 'score': 11.92}, {'connected_gene': 'LOC105379042', 'score': 11.79}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5	GH05I076332	76332876	76332925	0.31	[{'connected_gene': 'GC05P076333', 'score': 550.77}, {'connected_gene': 'PIR42219', 'score': 550.77}, {'connected_gene': 'IQGAP2', 'score': 11.92}, {'connected_gene': 'LOC105379042', 'score': 11.79}, {'connected_gene': 'SNRPCP2', 'score': 0.26}, {'connected_gene': 'SV2C', 'score': 0.07}]
chr5	GH05I076294	76294676	76294825	0.54	[{'connected_gene': 'GC05P076281', 'score': 0.39}, {'connected_gene': 'LOC105379042', 'score': 0.37}, {'connected_gene': 'SV2C', 'score': 0.08}]