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
ENST00000434909	[[30893009, 30893075], [30898872, 30898940], [30911857, 30911921], [30915109, 30915271], [30921795, 30921976], [30922535, 30922608], [30951607, 30951908], [30961680, 30961845], [30962178, 30962259], [30963064, 30963427]]	[[30915262, 30915271], [30921795, 30921976], [30922535, 30922608], [30951607, 30951908], [30961680, 30961845], [30962178, 30962259], [30963064, 30963244]]
ENST00000311813	[[30951469, 30951908], [30961680, 30961845], [30962178, 30962259], [30963064, 30965131]]	[[30951524, 30951908], [30961680, 30961845], [30962178, 30962259], [30963064, 30963244]]
ENST00000482461	[[30952905, 30953006], [30961680, 30961845], [30962178, 30962259], [30963064, 30963277]]	None
ENST00000441328	[[30960914, 30960930], [30961295, 30961453], [30961680, 30961845], [30962178, 30962259], [30963064, 30965131]]	[[30961318, 30961453], [30961680, 30961845], [30962178, 30962259], [30963064, 30963244]]
ENST00000409899	[[30961048, 30961239], [30961680, 30961845], [30962178, 30962259], [30963064, 30963636]]	[[30961200, 30961239], [30961680, 30961845], [30962178, 30962259], [30963064, 30963244]]
ENST00000409611	[[30961104, 30961453], [30961680, 30961845], [30962178, 30962259], [30963064, 30963609]]	[[30961222, 30961453], [30961680, 30961845], [30962178, 30962259], [30963064, 30963244]]
NM_001329872	[[30951308, 30951908], [30961680, 30961845], [30962178, 30962259], [30963064, 30963223], [30963441, 30965132]]	[[30951524, 30951908], [30961680, 30961845], [30962178, 30962259], [30963064, 30963223], [30963441, 30963624]]
NM_198098	[[30951308, 30951908], [30961680, 30961845], [30962178, 30962259], [30963064, 30965132]]	[[30951524, 30951908], [30961680, 30961845], [30962178, 30962259], [30963064, 30963244]]

Promoter

Chrom	Start	End	Description
chr7	30951123	30951149	CAGE_peak_6_at_AQP1_5end
chr7	30951312	30951359	CAGE_peak_2_at_AQP1_5end
chr7	30951461	30951474	CAGE_peak_1_at_AQP1_5end
chr7	30961045	30961048	CAGE_peak_13_at_AQP1_5end
chr7	30963395	30963409	CAGE_peak_8_at_AQP1_5end
chr7	30963544	30963579	CAGE_peak_4_at_AQP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I030814	30814595	30817832	0.71	[{'connected_gene': 'MINDY4', 'score': 18.22}, {'connected_gene': 'ENSG00000250424', 'score': 11.28}, {'connected_gene': 'AQP1', 'score': 11.16}, {'connected_gene': 'CRHR2', 'score': 5.48}, {'connected_gene': 'ENSG00000229263', 'score': 0.39}, {'connected_gene': 'GC07M030827', 'score': 0.39}, {'connected_gene': 'INMT-MINDY4', 'score': 0.21}]
chr7	GH07I030794	30794456	30798504	0.96	[{'connected_gene': 'MINDY4', 'score': 31.4}, {'connected_gene': 'ENSG00000250424', 'score': 10.88}, {'connected_gene': 'AQP1', 'score': 10.78}, {'connected_gene': 'ENSG00000229263', 'score': 5.98}, {'connected_gene': 'INMT', 'score': 4.9}, {'connected_gene': 'ZNRF2', 'score': 4.81}, {'connected_gene': 'INMT-MINDY4', 'score': 0.26}]
chr7	GH07I030798	30798720	30801950	1.26	[{'connected_gene': 'MINDY4', 'score': 29.86}, {'connected_gene': 'ENSG00000250424', 'score': 10.32}, {'connected_gene': 'AQP1', 'score': 10.22}, {'connected_gene': 'ENSG00000229263', 'score': 6.47}, {'connected_gene': 'INMT', 'score': 6.39}, {'connected_gene': 'INMT-MINDY4', 'score': 0.25}]
chr7	GH07I030910	30910130	30916926	2.14	[{'connected_gene': 'AQP1', 'score': 552.49}, {'connected_gene': 'GHRHR', 'score': 12.66}, {'connected_gene': 'ENSG00000250424', 'score': 11.44}, {'connected_gene': 'MINDY4', 'score': 11.34}]
chr7	GH07I030919	30919747	30922230	1.72	[{'connected_gene': 'AQP1', 'score': 550.44}, {'connected_gene': 'ENSG00000226874', 'score': 16.97}, {'connected_gene': 'ENSG00000263683', 'score': 12.76}, {'connected_gene': 'GHRHR', 'score': 0.37}, {'connected_gene': 'ENSG00000250424', 'score': 0.2}]
chr7	GH07I030917	30917974	30919643	0.43	[{'connected_gene': 'AQP1', 'score': 0.44}, {'connected_gene': 'GHRHR', 'score': 0.37}, {'connected_gene': 'ENSG00000250424', 'score': 0.2}]
chr7	GH07I030909	30909419	30909816	0.2	[{'connected_gene': 'AQP1', 'score': 0.77}, {'connected_gene': 'OSBPL9P6', 'score': 0.34}, {'connected_gene': 'ENSG00000250424', 'score': 0.22}]
chr7	GH07I030929	30929632	30930163	0.2	[{'connected_gene': 'GHRHR', 'score': 0.44}, {'connected_gene': 'AQP1', 'score': 0.37}]
chr7	GH07I030936	30936507	30939163	1.21	[{'connected_gene': 'GHRHR', 'score': 550.77}, {'connected_gene': 'AQP1', 'score': 0.31}]
chr7	GH07I030935	30935175	30935999	0.38	[{'connected_gene': 'GHRHR', 'score': 0.77}, {'connected_gene': 'AQP1', 'score': 0.34}]
chr7	GH07I030930	30930583	30933311	0.72	[{'connected_gene': 'ADCYAP1R1', 'score': 4.75}, {'connected_gene': 'GHRHR', 'score': 0.44}, {'connected_gene': 'AQP1', 'score': 0.34}]
chr7	GH07I030892	30892805	30898088	1.51	[{'connected_gene': 'ENSG00000226874', 'score': 16.97}, {'connected_gene': 'ENSG00000263683', 'score': 12.76}, {'connected_gene': 'ENSG00000250424', 'score': 11.17}, {'connected_gene': 'MINDY4', 'score': 11.03}, {'connected_gene': 'ENSG00000264520', 'score': 10.91}, {'connected_gene': 'PLEKHA8', 'score': 9.72}, {'connected_gene': 'AQP1', 'score': 6.2}, {'connected_gene': 'ADCYAP1R1', 'score': 3.56}, {'connected_gene': 'OSBPL9P6', 'score': 0.44}]
chr7	GH07I030872	30872756	30874647	0.31	[{'connected_gene': 'ENSG00000250424', 'score': 12.21}, {'connected_gene': 'AQP1', 'score': 12.15}, {'connected_gene': 'MINDY4', 'score': 12.02}, {'connected_gene': 'MTURN', 'score': 5.32}, {'connected_gene': 'PIR34848', 'score': 0.37}, {'connected_gene': 'INMT-MINDY4', 'score': 0.13}]
chr7	GH07I030886	30886405	30887602	0.4	[{'connected_gene': 'PIR34848', 'score': 550.77}, {'connected_gene': 'AQP1', 'score': 4.41}, {'connected_gene': 'ENSG00000250424', 'score': 0.29}, {'connected_gene': 'MINDY4', 'score': 0.13}, {'connected_gene': 'INMT-MINDY4', 'score': 0.12}]
chr7	GH07I030778	30778299	30779312	0.68	[{'connected_gene': 'ENSG00000229263', 'score': 17.04}, {'connected_gene': 'ENSG00000250424', 'score': 10.56}, {'connected_gene': 'AQP1', 'score': 10.49}, {'connected_gene': 'MINDY4', 'score': 9.56}, {'connected_gene': 'INMT-MINDY4', 'score': 0.31}]
chr7	GH07I030904	30904784	30908115	0.72	[{'connected_gene': 'ENSG00000196295', 'score': 5.9}, {'connected_gene': 'AQP1', 'score': 0.44}, {'connected_gene': 'OSBPL9P6', 'score': 0.37}, {'connected_gene': 'ENSG00000250424', 'score': 0.23}]
chr7	GH07I030925	30925101	30926746	0.46	[{'connected_gene': 'ENSG00000229263', 'score': 11.01}, {'connected_gene': 'GHRHR', 'score': 0.39}, {'connected_gene': 'AQP1', 'score': 0.39}]
chr7	GH07I030888	30888800	30889001	0.86	[{'connected_gene': 'PIR34848', 'score': 550.77}, {'connected_gene': 'OSBPL9P6', 'score': 550.77}, {'connected_gene': 'AQP1', 'score': 11.2}, {'connected_gene': 'ENSG00000250424', 'score': 11.13}, {'connected_gene': 'MINDY4', 'score': 10.98}, {'connected_gene': 'INMT-MINDY4', 'score': 0.12}]
chr7	GH07I030898	30898156	30901997	0.59	[{'connected_gene': 'ENSG00000196295', 'score': 4.61}, {'connected_gene': 'OSBPL9P6', 'score': 0.39}, {'connected_gene': 'AQP1', 'score': 0.39}, {'connected_gene': 'ENSG00000250424', 'score': 0.25}]