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
ENST00000429723	[[8073592, 8073743], [8090418, 8090514], [8097499, 8097700], [8102667, 8102781]]	[[8073707, 8073743], [8090418, 8090514], [8097499, 8097700], [8102667, 8102754]]
ENST00000502429	[[8078726, 8078973], [8090418, 8090514], [8097499, 8097700], [8102667, 8102714]]	[[8078907, 8078973], [8090418, 8090514], [8097499, 8097700], [8102667, 8102714]]
ENST00000379715	[[8079627, 8080263], [8090418, 8090514], [8097499, 8097700], [8102667, 8102811]]	[[8080122, 8080263], [8090418, 8090514], [8097499, 8097700], [8102667, 8102754]]
ENST00000507463	[[8090186, 8090514], [8097499, 8097700], [8102667, 8102792]]	[[8090349, 8090514], [8097499, 8097700], [8102667, 8102754]]
ENST00000515633	[[8090217, 8090514], [8095610, 8095728], [8097499, 8097544]]	[[8090506, 8090514], [8095610, 8095728], [8097499, 8097544]]
ENST00000488226	[[8097539, 8097700], [8101997, 8102279]]	[[8097539, 8097700], [8101997, 8102120]]
NM_001135650	[[8073592, 8073743], [8090418, 8090514], [8097499, 8097700], [8102667, 8102828]]	[[8073707, 8073743], [8090418, 8090514], [8097499, 8097700], [8102667, 8102754]]
NM_004280	[[8079627, 8080263], [8090418, 8090514], [8097499, 8097700], [8102667, 8102828]]	[[8080122, 8080263], [8090418, 8090514], [8097499, 8097700], [8102667, 8102754]]

Promoter

Chrom	Start	End	Description
chr6	8102358	8102368	CAGE_peak_5_at_EEF1E1_5end
chr6	8102752	8102806	CAGE_peak_1_at_EEF1E1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I008178	8178043	8183085	1.16	[{'connected_gene': 'EEF1E1', 'score': 5.47}, {'connected_gene': 'TXNDC5', 'score': 4.76}, {'connected_gene': 'GC06P008175', 'score': 0.44}, {'connected_gene': 'LOC105374910', 'score': 0.34}, {'connected_gene': 'GC06P008240', 'score': 0.21}]
chr6	GH06I008170	8170328	8170517	0.31	[{'connected_gene': 'EEF1E1', 'score': 4.6}, {'connected_gene': 'GC06P008175', 'score': 0.77}, {'connected_gene': 'LOC105374910', 'score': 0.39}]
chr6	GH06I008099	8099711	8103355	2.28	[{'connected_gene': 'EEF1E1', 'score': 557.64}, {'connected_gene': 'EEF1E1-BLOC1S5', 'score': 550.77}, {'connected_gene': 'RREB1', 'score': 13.75}, {'connected_gene': 'ENSG00000225092', 'score': 11.13}, {'connected_gene': 'GC06P008087', 'score': 0.39}, {'connected_gene': 'GC06M008098', 'score': 0.29}]
chr6	GH06I008079	8079801	8087134	1.67	[{'connected_gene': 'RIOK1', 'score': 10.57}, {'connected_gene': 'SNRNP48', 'score': 10.47}, {'connected_gene': 'EEF1E1', 'score': 6.9}, {'connected_gene': 'BLOC1S5', 'score': 5.3}, {'connected_gene': 'SCARNA27', 'score': 0.77}, {'connected_gene': 'EEF1E1-BLOC1S5', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.37}]
chr6	GH06I007914	7914871	7916093	1.01	[{'connected_gene': 'TXNDC5', 'score': 10.81}, {'connected_gene': 'BMP6', 'score': 10.71}, {'connected_gene': 'BLOC1S5', 'score': 10.49}, {'connected_gene': 'EEF1E1', 'score': 4.23}, {'connected_gene': 'SNRNP48', 'score': 1.34}, {'connected_gene': 'GC06P007902', 'score': 0.39}, {'connected_gene': 'GC06M007933', 'score': 0.37}, {'connected_gene': 'BLOC1S5-TXNDC5', 'score': 0.11}]
chr6	GH06I008107	8107627	8109569	1.08	[{'connected_gene': 'BLOC1S5', 'score': 10.99}, {'connected_gene': 'EEF1E1', 'score': 6.79}, {'connected_gene': 'LOC100506207', 'score': 4.52}, {'connected_gene': 'GC06P008104', 'score': 0.77}, {'connected_gene': 'GC06P008121', 'score': 0.39}, {'connected_gene': 'GC06M008098', 'score': 0.31}]
chr6	GH06I008110	8110527	8111271	0.75	[{'connected_gene': 'BLOC1S5', 'score': 10.98}, {'connected_gene': 'EEF1E1', 'score': 6.61}, {'connected_gene': 'GC06P008104', 'score': 0.44}, {'connected_gene': 'GC06P008121', 'score': 0.39}, {'connected_gene': 'GC06M008098', 'score': 0.31}]