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
ENST00000237455	[[86830515, 86832541], [86839281, 86839397], [86847452, 86847592], [86849783, 86850978]]	[[86830965, 86832541], [86839281, 86839397], [86847452, 86847592], [86849783, 86850009]]
ENST00000472030	[[86830522, 86832541], [86839281, 86841822]]	None
ENST00000463333	[[86831442, 86831601], [86839281, 86839397], [86842277, 86842380], [86847452, 86847592], [86849783, 86849951]]	None
ENST00000477307	[[86831722, 86832541], [86839281, 86839397], [86847452, 86847592], [86849783, 86849950], [86850938, 86850989]]	None
ENST00000465629	[[86843553, 86845136], [86847452, 86847592], [86849783, 86850168]]	None
ENST00000472680	[[86843831, 86843914], [86847452, 86847592], [86849783, 86849950], [86850938, 86850988]]	None
NM_005667	[[86830515, 86832541], [86839281, 86839397], [86847452, 86847592], [86849783, 86851000]]	[[86830965, 86832541], [86839281, 86839397], [86847452, 86847592], [86849783, 86850009]]
NM_001198951	[[86830515, 86832541], [86839281, 86839397], [86847452, 86847592], [86849783, 86849950], [86850938, 86851000]]	[[86830965, 86832541], [86839281, 86839397], [86847452, 86847592], [86849783, 86849950], [86850938, 86850985]]
NM_001198952	[[86843539, 86845136], [86847452, 86847592], [86849783, 86851000]]	[[86845133, 86845136], [86847452, 86847592], [86849783, 86850009]]

Promoter

Chrom	Start	End	Description
chr2	86850331	86850360	CAGE_peak_4_at_RNF103_5end
chr2	86850645	86850721	CAGE_peak_2_at_RNF103_5end
chr2	86850949	86851023	CAGE_peak_1_at_RNF103_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I086783	86783119	86795755	1.98	[{'connected_gene': 'CD8A', 'score': 591.87}, {'connected_gene': 'CD8B', 'score': 21.15}, {'connected_gene': 'CHMP3', 'score': 20.0}, {'connected_gene': 'RNU6-640P', 'score': 10.07}, {'connected_gene': 'REEP1', 'score': 6.93}, {'connected_gene': 'ENSG00000231259', 'score': 6.74}, {'connected_gene': 'RMND5A', 'score': 4.65}, {'connected_gene': 'KDM3A', 'score': 2.11}, {'connected_gene': 'RNF103', 'score': 1.51}, {'connected_gene': 'LOC105374846', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.23}]
chr2	GH02I086648	86648656	86650165	0.79	[{'connected_gene': 'CD8A', 'score': 4.48}, {'connected_gene': 'RNF103', 'score': 0.31}, {'connected_gene': 'GC02P086686', 'score': 0.28}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.19}]
chr2	GH02I086620	86620959	86624662	2.03	[{'connected_gene': 'RNF103', 'score': 550.77}, {'connected_gene': 'RNF103-CHMP3', 'score': 550.15}, {'connected_gene': 'CHMP3', 'score': 15.97}, {'connected_gene': 'RNU6-640P', 'score': 11.4}, {'connected_gene': 'MRPL35', 'score': 7.75}, {'connected_gene': 'POLR1A', 'score': 7.29}, {'connected_gene': 'PLGLB1', 'score': 6.38}, {'connected_gene': 'IMMT', 'score': 4.56}, {'connected_gene': 'GC02P086607', 'score': 0.37}, {'connected_gene': 'GC02P086603', 'score': 0.37}]
chr2	GH02I086628	86628046	86628476	0.78	[{'connected_gene': 'RNF103', 'score': 0.77}, {'connected_gene': 'GC02P086686', 'score': 0.22}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.16}]
chr2	GH02I086694	86694668	86696122	1.61	[{'connected_gene': 'SNORD94', 'score': 41.53}, {'connected_gene': 'LOC102724642', 'score': 34.49}, {'connected_gene': 'RNF103-CHMP3', 'score': 10.88}, {'connected_gene': 'RNF103', 'score': 10.76}, {'connected_gene': 'POLR1A', 'score': 10.21}, {'connected_gene': 'CHMP3', 'score': 9.95}, {'connected_gene': 'RNU6-640P', 'score': 9.92}, {'connected_gene': 'RMND5A', 'score': 6.78}, {'connected_gene': 'CD8A', 'score': 5.64}, {'connected_gene': 'ENSG00000231259', 'score': 5.56}, {'connected_gene': 'GC02P086686', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.26}]
chr2	GH02I086440	86440207	86443843	2.36	[{'connected_gene': 'KDM3A', 'score': 571.69}, {'connected_gene': 'GC02M086437', 'score': 550.77}, {'connected_gene': 'SNORD94', 'score': 78.34}, {'connected_gene': 'LOC102724642', 'score': 68.26}, {'connected_gene': 'C2orf68', 'score': 34.8}, {'connected_gene': 'ENSG00000231259', 'score': 34.4}, {'connected_gene': 'LOC100420889', 'score': 29.61}, {'connected_gene': 'USP39', 'score': 21.66}, {'connected_gene': 'PTCD3', 'score': 13.64}, {'connected_gene': 'LOC105374845', 'score': 11.35}, {'connected_gene': 'CHMP3', 'score': 10.68}, {'connected_gene': 'POLR1A', 'score': 10.23}, {'connected_gene': 'MAT2A', 'score': 10.13}, {'connected_gene': 'RNF103', 'score': 9.73}, {'connected_gene': 'MRPL35', 'score': 6.32}, {'connected_gene': 'GC02P086423', 'score': 0.37}, {'connected_gene': 'GC02M086424', 'score': 0.31}]
chr2	GH02I086462	86462927	86465856	0.31	[{'connected_gene': 'CHMP3', 'score': 22.71}, {'connected_gene': 'RNF103', 'score': 14.59}, {'connected_gene': 'RNU6-640P', 'score': 11.75}, {'connected_gene': 'KDM3A', 'score': 11.4}, {'connected_gene': 'RNF103-CHMP3', 'score': 10.24}, {'connected_gene': 'CD8A', 'score': 4.06}, {'connected_gene': 'GC02M086424', 'score': 0.77}, {'connected_gene': 'GC02M086437', 'score': 0.34}, {'connected_gene': 'GC02P086423', 'score': 0.26}]
chr2	GH02I086631	86631361	86633725	0.79	[{'connected_gene': 'CHMP3', 'score': 14.5}, {'connected_gene': 'RNU6-640P', 'score': 10.15}, {'connected_gene': 'REEP1', 'score': 6.8}, {'connected_gene': 'POLR1A', 'score': 4.03}, {'connected_gene': 'RNF103', 'score': 0.44}, {'connected_gene': 'GC02P086686', 'score': 0.23}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.17}]
chr2	GH02I086675	86675798	86675927	0.66	[{'connected_gene': 'CHMP3', 'score': 10.48}, {'connected_gene': 'RNU6-640P', 'score': 10.44}, {'connected_gene': 'LOC102724642', 'score': 5.04}, {'connected_gene': 'GC02P086686', 'score': 0.39}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.25}, {'connected_gene': 'RNF103', 'score': 0.23}]
chr2	GH02I086747	86747437	86748912	0.68	[{'connected_gene': 'RNF103-CHMP3', 'score': 11.92}, {'connected_gene': 'RNF103', 'score': 11.74}, {'connected_gene': 'CHMP3', 'score': 11.06}, {'connected_gene': 'RNU6-640P', 'score': 11.04}, {'connected_gene': 'CD8A', 'score': 7.03}, {'connected_gene': 'RMND5A', 'score': 5.96}, {'connected_gene': 'IMMT', 'score': 4.68}, {'connected_gene': 'GC02M086689', 'score': 0.39}, {'connected_gene': 'LOC105374846', 'score': 0.25}]
chr2	GH02I086671	86671698	86671847	0.71	[{'connected_gene': 'RNF103-CHMP3', 'score': 11.9}, {'connected_gene': 'RNF103', 'score': 11.9}, {'connected_gene': 'CHMP3', 'score': 10.64}, {'connected_gene': 'RNU6-640P', 'score': 10.6}, {'connected_gene': 'GC02P086686', 'score': 0.39}]
chr2	GH02I086583	86583733	86584976	1.02	[{'connected_gene': 'GC02M086575', 'score': 550.77}, {'connected_gene': 'RNF103', 'score': 12.0}, {'connected_gene': 'RNF103-CHMP3', 'score': 11.84}, {'connected_gene': 'LOC105374845', 'score': 0.34}, {'connected_gene': 'CHMP3', 'score': 0.34}]
chr2	GH02I086465	86465992	86471238	0.46	[{'connected_gene': 'GC02M086424', 'score': 550.77}, {'connected_gene': 'CHMP3', 'score': 21.88}, {'connected_gene': 'KDM3A', 'score': 11.38}, {'connected_gene': 'RNU6-640P', 'score': 11.36}, {'connected_gene': 'RNF103', 'score': 10.27}, {'connected_gene': 'RNF103-CHMP3', 'score': 10.24}, {'connected_gene': 'MRPL35', 'score': 5.78}, {'connected_gene': 'GC02P086487', 'score': 0.37}, {'connected_gene': 'GC02P086423', 'score': 0.25}]
chr2	GH02I086222	86222446	86226438	1.45	[{'connected_gene': 'GC02M086172', 'score': 550.77}, {'connected_gene': 'MRPL35', 'score': 43.42}, {'connected_gene': 'IMMT', 'score': 36.06}, {'connected_gene': 'POLR1A', 'score': 20.79}, {'connected_gene': 'REEP1', 'score': 15.95}, {'connected_gene': 'ENSG00000251974', 'score': 11.34}, {'connected_gene': 'ENSG00000202537', 'score': 10.7}, {'connected_gene': 'ENSG00000273080', 'score': 4.88}, {'connected_gene': 'RNF103', 'score': 1.53}, {'connected_gene': 'RMND5A', 'score': 1.38}, {'connected_gene': 'GC02M086283', 'score': 0.19}]