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
ENST00000333003	[[95414004, 95416179], [95418925, 95419031], [95422162, 95422300], [95425124, 95425264], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461167], [95467155, 95467479]]	[[95416004, 95416179], [95418925, 95419031], [95422162, 95422300], [95425124, 95425264], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461160]]
ENST00000551647	[[95415668, 95416179], [95418925, 95419031], [95434251, 95434374]]	[[95418934, 95419031], [95434251, 95434374]]
ENST00000552861	[[95415668, 95416179], [95418925, 95419031], [95422162, 95422285], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461167], [95467155, 95467345]]	None
ENST00000546416	[[95416109, 95416179], [95418925, 95419031], [95422162, 95422285], [95425124, 95425264], [95442843, 95443268]]	None
ENST00000549617	[[95415696, 95416179], [95418925, 95419125]]	None
ENST00000547594	[[95420608, 95420644], [95422162, 95422300], [95425124, 95425264], [95445537, 95445719], [95451328, 95451419], [95451506, 95451533]]	None
ENST00000552484	[[95421881, 95422300], [95425124, 95425170]]	None
ENST00000545833	[[95422233, 95422285], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461160]]	None
ENST00000552791	[[95424184, 95424405], [95425124, 95425264], [95434251, 95434373], [95445537, 95445645]]	[[95434339, 95434373], [95445537, 95445645]]
ENST00000393101	[[95424184, 95424405], [95425124, 95425264], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461167], [95467155, 95467356]]	[[95424394, 95424405], [95425124, 95425264], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461160]]
ENST00000330677	[[95424193, 95424649], [95425124, 95425264], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461167], [95467155, 95467313]]	[[95424590, 95424649], [95425124, 95425264], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461160]]
ENST00000548252	[[95442903, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452123, 95452169]]	None
ENST00000546367	[[95452128, 95452265], [95456283, 95456514], [95461106, 95461167], [95467155, 95467286]]	None
ENST00000548966	[[95452184, 95452265], [95453681, 95453760], [95456283, 95456514], [95467155, 95467321]]	None
ENST00000552417	[[95452195, 95452265], [95456283, 95456514], [95456625, 95456663], [95461106, 95461146]]	None
ENST00000551386	[[95453695, 95453760], [95456283, 95456514], [95456625, 95456663], [95461106, 95461167], [95467155, 95467391]]	None
ENST00000549482	[[95460703, 95461167], [95467155, 95467279]]	None
ENST00000547469	[[95461112, 95461167], [95466415, 95466793]]	[[95461112, 95461160]]
NM_003297	[[95414004, 95416179], [95418925, 95419031], [95422162, 95422300], [95425124, 95425264], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461167], [95467155, 95467404]]	[[95416004, 95416179], [95418925, 95419031], [95422162, 95422300], [95425124, 95425264], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461160]]
NM_001127362	[[95424184, 95424649], [95425124, 95425264], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461167], [95467155, 95467404]]	[[95424590, 95424649], [95425124, 95425264], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461160]]
NM_001032287	[[95424184, 95424405], [95425124, 95425264], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461167], [95467155, 95467404]]	[[95424394, 95424405], [95425124, 95425264], [95434251, 95434373], [95442843, 95443009], [95445537, 95445719], [95451328, 95451419], [95451506, 95451654], [95452085, 95452265], [95453681, 95453760], [95456283, 95456514], [95461106, 95461160]]

Promoter

Chrom	Start	End	Description
chr12	95467222	95467233	CAGE_peak_3_at_NR2C1_5end
chr12	95467267	95467350	CAGE_peak_1_at_NR2C1_5end
chr12	95467359	95467417	CAGE_peak_2_at_NR2C1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I095545	95545445	95550166	2.34	[{'connected_gene': 'USP44', 'score': 568.28}, {'connected_gene': 'NR2C1', 'score': 23.02}, {'connected_gene': 'METAP2', 'score': 0.19}]
chr12	GH12I095072	95072001	95074851	2.06	[{'connected_gene': 'NR2C1', 'score': 550.77}, {'connected_gene': 'VEZT', 'score': 21.68}, {'connected_gene': 'NDUFA12', 'score': 11.63}, {'connected_gene': 'FGD6', 'score': 10.32}]
chr12	GH12I095632	95632372	95642940	1.59	[{'connected_gene': 'NR2C1', 'score': 13.74}, {'connected_gene': 'LTA4H', 'score': 3.72}, {'connected_gene': 'NTN4', 'score': 1.88}, {'connected_gene': 'ENSG00000212448', 'score': 0.37}, {'connected_gene': 'GC12M095719', 'score': 0.18}, {'connected_gene': 'PGAM1P5', 'score': 0.17}]
chr12	GH12I095652	95652519	95654945	1.59	[{'connected_gene': 'NR2C1', 'score': 61.55}, {'connected_gene': 'ELK3', 'score': 40.26}, {'connected_gene': 'METAP2', 'score': 31.25}, {'connected_gene': 'SNRPF', 'score': 30.34}, {'connected_gene': 'LTA4H', 'score': 19.44}, {'connected_gene': 'NTN4', 'score': 11.54}, {'connected_gene': 'USP44', 'score': 10.66}, {'connected_gene': 'RPL29P26', 'score': 10.06}, {'connected_gene': 'VEZT', 'score': 10.06}, {'connected_gene': 'ENSG00000212448', 'score': 0.28}, {'connected_gene': 'GC12M095719', 'score': 0.2}, {'connected_gene': 'PGAM1P5', 'score': 0.15}]
chr12	GH12I095428	95428126	95429000	1	[{'connected_gene': 'NR2C1', 'score': 13.04}, {'connected_gene': 'ELK3', 'score': 9.92}, {'connected_gene': 'GC12P095421', 'score': 0.44}, {'connected_gene': 'GC12M095439', 'score': 0.39}, {'connected_gene': 'LOC105369917', 'score': 0.39}]
chr12	GH12I095998	95998263	95999200	1.14	[{'connected_gene': 'NR2C1', 'score': 9.99}, {'connected_gene': 'LOC102723340', 'score': 0.77}, {'connected_gene': 'ENSG00000257715', 'score': 0.31}]
chr12	GH12I094219	94219834	94223256	0.59	[{'connected_gene': 'NR2C1', 'score': 20.58}, {'connected_gene': 'PLXNC1', 'score': 16.39}, {'connected_gene': 'ENSG00000258365', 'score': 11.16}, {'connected_gene': 'ENSG00000271382', 'score': 10.08}, {'connected_gene': 'ENSG00000258035', 'score': 0.28}, {'connected_gene': 'ENSG00000258172', 'score': 0.22}]
chr12	GH12I094993	94993952	94995004	0.49	[{'connected_gene': 'NDUFA12', 'score': 17.25}, {'connected_gene': 'NR2C1', 'score': 12.02}, {'connected_gene': 'GC12M095002', 'score': 0.77}, {'connected_gene': 'GC12M095001', 'score': 0.77}, {'connected_gene': 'PIR32865', 'score': 0.77}, {'connected_gene': 'GC12M095000', 'score': 0.77}, {'connected_gene': 'GC12M094957', 'score': 0.37}]
chr12	GH12I095010	95010910	95011145	0.22	[{'connected_gene': 'NDUFA12', 'score': 0.44}, {'connected_gene': 'NR2C1', 'score': 0.21}]
chr12	GH12I095017	95017931	95018199	0.22	[{'connected_gene': 'NDUFA12', 'score': 6.7}, {'connected_gene': 'NR2C1', 'score': 0.22}]
chr12	GH12I094989	94989856	94991004	0.43	[{'connected_gene': 'FGD6', 'score': 14.47}, {'connected_gene': 'NDUFA12', 'score': 14.16}, {'connected_gene': 'NR2C1', 'score': 12.02}, {'connected_gene': 'GC12M095002', 'score': 0.44}, {'connected_gene': 'GC12M095001', 'score': 0.44}, {'connected_gene': 'PIR32865', 'score': 0.44}, {'connected_gene': 'GC12M095000', 'score': 0.44}, {'connected_gene': 'GC12M094957', 'score': 0.39}]
chr12	GH12I095066	95066585	95066734	0.31	[{'connected_gene': 'VEZT', 'score': 10.32}, {'connected_gene': 'FGD6', 'score': 10.32}, {'connected_gene': 'NR2C1', 'score': 0.44}, {'connected_gene': 'NDUFA12', 'score': 0.21}]
chr12	GH12I094832	94832601	94834147	1.47	[{'connected_gene': 'KRT19P2', 'score': 550.77}, {'connected_gene': 'GC12P094845', 'score': 550.77}, {'connected_gene': 'GC12P094846', 'score': 550.77}, {'connected_gene': 'MIR492', 'score': 550.77}, {'connected_gene': 'NR2C1', 'score': 11.1}, {'connected_gene': 'ENSG00000258365', 'score': 10.47}, {'connected_gene': 'USP44', 'score': 10.34}, {'connected_gene': 'ENSG00000271382', 'score': 10.31}, {'connected_gene': 'CEP83', 'score': 2.6}, {'connected_gene': 'GC12M094805', 'score': 0.37}]
chr12	GH12I095941	95941989	95944343	2.03	[{'connected_gene': 'AMDHD1', 'score': 593.99}, {'connected_gene': 'CCDC38', 'score': 550.77}, {'connected_gene': 'NR2C1', 'score': 66.92}, {'connected_gene': 'USP44', 'score': 22.56}, {'connected_gene': 'ELK3', 'score': 21.23}, {'connected_gene': 'METAP2', 'score': 20.69}, {'connected_gene': 'SNRPF', 'score': 10.73}, {'connected_gene': 'VEZT', 'score': 10.15}, {'connected_gene': 'LTA4H', 'score': 9.94}, {'connected_gene': 'HAL', 'score': 6.23}, {'connected_gene': 'GC12P095914', 'score': 0.31}]
chr12	GH12I095835	95835783	95838588	1.04	[{'connected_gene': 'LOC105369921', 'score': 48.22}, {'connected_gene': 'ELK3', 'score': 21.21}, {'connected_gene': 'NR2C1', 'score': 13.81}, {'connected_gene': 'RNU6-247P', 'score': 10.8}, {'connected_gene': 'NTN4', 'score': 10.78}, {'connected_gene': 'LTA4H', 'score': 9.87}, {'connected_gene': 'SNRPF', 'score': 6.59}, {'connected_gene': 'CFAP54', 'score': 5.58}, {'connected_gene': 'CCDC38', 'score': 5.56}, {'connected_gene': 'GC12M095850', 'score': 0.37}, {'connected_gene': 'GC12P095807', 'score': 0.29}]
chr12	GH12I094189	94189360	94195441	0.59	[{'connected_gene': 'PLXNC1', 'score': 20.16}, {'connected_gene': 'ENSG00000271382', 'score': 18.13}, {'connected_gene': 'NR2C1', 'score': 10.5}, {'connected_gene': 'ENSG00000258035', 'score': 0.44}, {'connected_gene': 'ENSG00000258172', 'score': 0.18}]
chr12	GH12I094147	94147605	94153478	2.46	[{'connected_gene': 'PLXNC1', 'score': 583.69}, {'connected_gene': 'GC12P094149', 'score': 550.77}, {'connected_gene': 'TMCC3', 'score': 34.77}, {'connected_gene': 'NR2C1', 'score': 11.05}, {'connected_gene': 'ENSG00000258365', 'score': 10.55}, {'connected_gene': 'ENSG00000271382', 'score': 10.36}, {'connected_gene': 'CRADD', 'score': 1.2}, {'connected_gene': 'ENSG00000258035', 'score': 0.28}]
chr12	GH12I096033	96033773	96036703	2.29	[{'connected_gene': 'TRD-GTC2-8', 'score': 550.77}, {'connected_gene': 'LTA4H', 'score': 550.44}, {'connected_gene': 'HAL', 'score': 30.49}, {'connected_gene': 'LOC102723340', 'score': 19.53}, {'connected_gene': 'NR2C1', 'score': 14.94}, {'connected_gene': 'METAP2', 'score': 11.32}, {'connected_gene': 'VEZT', 'score': 10.57}, {'connected_gene': 'AMDHD1', 'score': 6.61}, {'connected_gene': 'ENSG00000257715', 'score': 0.44}]