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
ENST00000498508	[[214161273, 214162064], [214169811, 214171603], [214178507, 214178615], [214184863, 214185058], [214208991, 214209775]]	[[214169878, 214171603], [214178507, 214178615], [214184863, 214185058], [214208991, 214209177]]
ENST00000366958	[[214161285, 214161826], [214169811, 214171603], [214178507, 214178615], [214184863, 214185058], [214208991, 214214595]]	[[214169878, 214171603], [214178507, 214178615], [214184863, 214185058], [214208991, 214209177]]
ENST00000435016	[[214161859, 214162064], [214169811, 214171605], [214178509, 214178615], [214184863, 214185058], [214208991, 214209760]]	[[214169878, 214171605], [214178509, 214178615], [214184863, 214185058], [214208991, 214209177]]
ENST00000261454	[[214169878, 214171603], [214178507, 214178615], [214184863, 214185058], [214208991, 214209760]]	[[214169878, 214171603], [214178507, 214178615], [214184863, 214185058], [214208991, 214209177]]
ENST00000471129	[[214156523, 214156666], [214169811, 214170568]]	[[214169878, 214170568]]
ENST00000607726	[[214161296, 214161826], [214161958, 214161990]]	None
ENST00000607425	[[214163060, 214163124], [214169811, 214170307]]	[[214169878, 214170307]]
NM_001270616	[[214161277, 214161826], [214169811, 214171603], [214178507, 214178615], [214184863, 214185058], [214208991, 214214853]]	[[214169878, 214171603], [214178507, 214178615], [214184863, 214185058], [214208991, 214209177]]
NM_002763	[[214161843, 214162064], [214169811, 214171603], [214178507, 214178615], [214184863, 214185058], [214208991, 214214853]]	[[214169878, 214171603], [214178507, 214178615], [214184863, 214185058], [214208991, 214209177]]

Promoter

Chrom	Start	End	Description
chr1	214161272	214161322	CAGE_peak_1_at_PROX1_5end
chr1	214161328	214161348	CAGE_peak_2_at_PROX1_5end
chr1	214161358	214161377	CAGE_peak_3_at_PROX1_5end
chr1	214161428	214161437	CAGE_peak_6_at_PROX1_5end
chr1	214161600	214161606	CAGE_peak_7_at_PROX1_5end
chr1	214161619	214161629	CAGE_peak_5_at_PROX1_5end
chr1	214161854	214161892	CAGE_peak_4_at_PROX1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I214442	214442801	214450119	1.49	[{'connected_gene': 'PTPN14', 'score': 5.2}, {'connected_gene': 'ABHD17AP3', 'score': 4.91}, {'connected_gene': 'PROX1', 'score': 4.9}, {'connected_gene': 'SMYD2', 'score': 4.85}, {'connected_gene': 'GC01M214483', 'score': 0.28}, {'connected_gene': 'ENSG00000228470', 'score': 0.17}]
chr1	GH01I214123	214123064	214125945	0.87	[{'connected_gene': 'PROX1', 'score': 10.78}, {'connected_gene': 'LOC105372911', 'score': 0.21}, {'connected_gene': 'GC01M214040', 'score': 0.18}]
chr1	GH01I213953	213953453	213953829	0.36	[{'connected_gene': 'PROX1', 'score': 14.67}, {'connected_gene': 'LINC00538', 'score': 0.31}, {'connected_gene': 'GC01P213925', 'score': 0.31}, {'connected_gene': 'PROX1-AS1', 'score': 0.29}]
chr1	GH01I213950	213950521	213950739	0.4	[{'connected_gene': 'PROX1', 'score': 11.28}, {'connected_gene': 'LINC00538', 'score': 0.31}, {'connected_gene': 'GC01P213925', 'score': 0.31}, {'connected_gene': 'PROX1-AS1', 'score': 0.28}]
chr1	GH01I214023	214023797	214025756	0.2	[{'connected_gene': 'PROX1', 'score': 11.26}, {'connected_gene': 'ENSG00000272167', 'score': 0.44}, {'connected_gene': 'PROX1-AS1', 'score': 0.28}, {'connected_gene': 'LOC105372911', 'score': 0.1}]
chr1	GH01I214018	214017617	214020867	0.56	[{'connected_gene': 'PROX1', 'score': 11.02}, {'connected_gene': 'ENSG00000272167', 'score': 0.39}, {'connected_gene': 'PROX1-AS1', 'score': 0.29}, {'connected_gene': 'LOC105372911', 'score': 0.1}]
chr1	GH01I213982	213982415	213983600	1.03	[{'connected_gene': 'PROX1', 'score': 550.77}, {'connected_gene': 'PROX1-AS1', 'score': 0.44}, {'connected_gene': 'LINC00538', 'score': 0.22}, {'connected_gene': 'GC01P213925', 'score': 0.22}]
chr1	GH01I213980	213980058	213980167	0.46	[{'connected_gene': 'PROX1', 'score': 0.77}, {'connected_gene': 'PROX1-AS1', 'score': 0.44}, {'connected_gene': 'LINC00538', 'score': 0.22}, {'connected_gene': 'GC01P213925', 'score': 0.22}]
chr1	GH01I213977	213977598	213977747	0.9	[{'connected_gene': 'PROX1', 'score': 0.44}, {'connected_gene': 'PROX1-AS1', 'score': 0.39}, {'connected_gene': 'LINC00538', 'score': 0.23}, {'connected_gene': 'GC01P213925', 'score': 0.23}]
chr1	GH01I213979	213979798	213979907	0.46	[{'connected_gene': 'PROX1', 'score': 0.77}, {'connected_gene': 'PROX1-AS1', 'score': 0.44}, {'connected_gene': 'LINC00538', 'score': 0.22}, {'connected_gene': 'GC01P213925', 'score': 0.22}]
chr1	GH01I213976	213976977	213977436	0.82	[{'connected_gene': 'PROX1', 'score': 0.44}, {'connected_gene': 'PROX1-AS1', 'score': 0.39}, {'connected_gene': 'LINC00538', 'score': 0.23}, {'connected_gene': 'GC01P213925', 'score': 0.23}]
chr1	GH01I213981	213980326	213981283	0.46	[{'connected_gene': 'PROX1', 'score': 0.77}, {'connected_gene': 'PROX1-AS1', 'score': 0.44}, {'connected_gene': 'LINC00538', 'score': 0.22}, {'connected_gene': 'GC01P213925', 'score': 0.22}]
chr1	GH01I214010	214009073	214009396	0.71	[{'connected_gene': 'PROX1', 'score': 11.53}, {'connected_gene': 'PROX1-AS1', 'score': 0.34}, {'connected_gene': 'ENSG00000272167', 'score': 0.34}]
chr1	GH01I214016	214016991	214017561	0.6	[{'connected_gene': 'PROX1', 'score': 10.86}, {'connected_gene': 'ENSG00000272167', 'score': 0.39}, {'connected_gene': 'PROX1-AS1', 'score': 0.31}]
chr1	GH01I213986	213986899	213990763	2.49	[{'connected_gene': 'PROX1', 'score': 560.73}, {'connected_gene': 'PROX1-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000272167', 'score': 0.26}]
chr1	GH01I213984	213984515	213984598	1	[{'connected_gene': 'PROX1', 'score': 559.97}, {'connected_gene': 'ENSG00000274895', 'score': 550.77}, {'connected_gene': 'PROX1-AS1', 'score': 0.77}]
chr1	GH01I214425	214425198	214431120	1.47	[{'connected_gene': 'CENPF', 'score': 10.45}, {'connected_gene': 'PTPN14', 'score': 6.05}, {'connected_gene': 'ABHD17AP3', 'score': 4.92}, {'connected_gene': 'SMYD2', 'score': 4.87}, {'connected_gene': 'PROX1', 'score': 4.24}, {'connected_gene': 'KCNK2', 'score': 4.16}, {'connected_gene': 'GC01M214483', 'score': 0.22}, {'connected_gene': 'ENSG00000228470', 'score': 0.19}]
chr1	GH01I213933	213933292	213933689	0.4	[{'connected_gene': 'LINC00538', 'score': 0.44}, {'connected_gene': 'GC01P213925', 'score': 0.44}, {'connected_gene': 'PROX1', 'score': 0.25}, {'connected_gene': 'PROX1-AS1', 'score': 0.22}]
chr1	GH01I214009	214009741	214010319	0.78	[{'connected_gene': 'PROX1-AS1', 'score': 0.34}, {'connected_gene': 'ENSG00000272167', 'score': 0.34}, {'connected_gene': 'PROX1', 'score': 0.31}]
chr1	GH01I213993	213993580	213995701	0.56	[{'connected_gene': 'PROX1-AS1', 'score': 0.44}, {'connected_gene': 'PROX1', 'score': 0.39}, {'connected_gene': 'ENSG00000272167', 'score': 0.28}]
chr1	GH01I214005	214005708	214005911	0.6	[{'connected_gene': 'PROX1-AS1', 'score': 0.37}, {'connected_gene': 'PROX1', 'score': 0.34}, {'connected_gene': 'ENSG00000272167', 'score': 0.31}]
chr1	GH01I213996	213996261	213998063	1.42	[{'connected_gene': 'PROX1-AS1', 'score': 0.44}, {'connected_gene': 'PROX1', 'score': 0.39}, {'connected_gene': 'ENSG00000272167', 'score': 0.29}]
chr1	GH01I214001	214001709	214003377	1.71	[{'connected_gene': 'PROX1-AS1', 'score': 0.39}, {'connected_gene': 'PROX1', 'score': 0.37}, {'connected_gene': 'ENSG00000272167', 'score': 0.31}]
chr1	GH01I214006	214006124	214007086	0.31	[{'connected_gene': 'PROX1-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000272167', 'score': 0.34}, {'connected_gene': 'PROX1', 'score': 0.34}]
chr1	GH01I214038	214038843	214039041	0.6	[{'connected_gene': 'ENSG00000272167', 'score': 0.44}, {'connected_gene': 'GC01M214040', 'score': 0.44}, {'connected_gene': 'PROX1', 'score': 0.22}, {'connected_gene': 'LOC105372911', 'score': 0.11}]
chr1	GH01I214035	214035518	214036148	0.31	[{'connected_gene': 'ENSG00000272167', 'score': 0.77}, {'connected_gene': 'GC01M214040', 'score': 0.44}, {'connected_gene': 'PROX1', 'score': 0.23}, {'connected_gene': 'LOC105372911', 'score': 0.1}]
chr1	GH01I214032	214032831	214033454	0.2	[{'connected_gene': 'ENSG00000272167', 'score': 0.77}, {'connected_gene': 'GC01M214040', 'score': 0.39}, {'connected_gene': 'PROX1', 'score': 0.25}, {'connected_gene': 'LOC105372911', 'score': 0.1}]
chr1	GH01I214026	214026368	214031952	1.49	[{'connected_gene': 'ENSG00000272167', 'score': 550.77}, {'connected_gene': 'PROX1', 'score': 10.72}, {'connected_gene': 'PROX1-AS1', 'score': 0.26}, {'connected_gene': 'LOC105372911', 'score': 0.1}]
chr1	GH01I214021	214021508	214023311	0.52	[{'connected_gene': 'ENSG00000272167', 'score': 0.44}, {'connected_gene': 'PROX1-AS1', 'score': 0.29}, {'connected_gene': 'PROX1', 'score': 0.28}, {'connected_gene': 'LOC105372911', 'score': 0.1}]
chr1	GH01I214017	214016317	214016868	0.2	[{'connected_gene': 'ENSG00000272167', 'score': 0.39}, {'connected_gene': 'PROX1-AS1', 'score': 0.31}, {'connected_gene': 'PROX1', 'score': 0.29}]
chr1	GH01I214011	214011731	214016119	0.38	[{'connected_gene': 'ENSG00000272167', 'score': 0.37}, {'connected_gene': 'PROX1-AS1', 'score': 0.31}, {'connected_gene': 'PROX1', 'score': 0.29}]