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
ENST00000317306	[[17927320, 17927868], [17932125, 17932332]]	[[17927662, 17927868], [17932125, 17932315]]
ENST00000598577	[[17927321, 17927890], [17932125, 17932314]]	[[17927864, 17927890], [17932125, 17932314]]
ENST00000379695	[[17927322, 17927868], [17931204, 17931299], [17932125, 17932383]]	[[17927679, 17927868], [17931204, 17931299], [17932125, 17932315]]
NM_001265587	[[17927321, 17927868], [17931204, 17931299], [17932125, 17932383]]	[[17927679, 17927868], [17931204, 17931299], [17932125, 17932315]]
NM_005543	[[17927321, 17927868], [17932125, 17932383]]	[[17927662, 17927868], [17932125, 17932315]]

Promoter

Chrom	Start	End	Description
chr19	17932318	17932334	CAGE_peak_1_at_INSL3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I017829	17829788	17831997	1.24	[{'connected_gene': 'MVB12A', 'score': 21.2}, {'connected_gene': 'ENSG00000268030', 'score': 21.16}, {'connected_gene': 'ENSG00000268938', 'score': 17.66}, {'connected_gene': 'COLGALT1', 'score': 15.5}, {'connected_gene': 'ENSG00000269191', 'score': 15.08}, {'connected_gene': 'B3GNT3', 'score': 13.06}, {'connected_gene': 'HAUS8', 'score': 12.44}, {'connected_gene': 'IQCN', 'score': 11.3}, {'connected_gene': 'ELL', 'score': 10.26}, {'connected_gene': 'BST2', 'score': 10.14}, {'connected_gene': 'ENSG00000268743', 'score': 9.91}, {'connected_gene': 'INSL3', 'score': 6.15}, {'connected_gene': 'USE1', 'score': 5.26}, {'connected_gene': 'GC19M017837', 'score': 0.44}, {'connected_gene': 'JAK3', 'score': 0.37}]
chr19	GH19I017762	17762179	17763241	1.2	[{'connected_gene': 'MAP1S', 'score': 12.46}, {'connected_gene': 'B3GNT3', 'score': 12.42}, {'connected_gene': 'INSL3', 'score': 11.78}, {'connected_gene': 'PLVAP', 'score': 11.59}, {'connected_gene': 'NXNL1', 'score': 11.53}, {'connected_gene': 'F2RL3', 'score': 11.06}, {'connected_gene': 'GC19M017755', 'score': 0.77}, {'connected_gene': 'GC19P020271', 'score': 0.44}, {'connected_gene': 'FCHO1', 'score': 0.39}]
chr19	GH19I017759	17759844	17761390	0.2	[{'connected_gene': 'MAP1S', 'score': 12.46}, {'connected_gene': 'B3GNT3', 'score': 12.42}, {'connected_gene': 'INSL3', 'score': 11.77}, {'connected_gene': 'NXNL1', 'score': 11.54}, {'connected_gene': 'FCHO1', 'score': 9.85}, {'connected_gene': 'GC19M017755', 'score': 0.77}, {'connected_gene': 'GC19P020271', 'score': 0.44}]
chr19	GH19I017758	17758070	17759552	0.49	[{'connected_gene': 'MAP1S', 'score': 12.47}, {'connected_gene': 'B3GNT3', 'score': 12.4}, {'connected_gene': 'INSL3', 'score': 11.77}, {'connected_gene': 'NXNL1', 'score': 11.54}, {'connected_gene': 'FCHO1', 'score': 10.96}, {'connected_gene': 'GC19P020271', 'score': 0.44}, {'connected_gene': 'GC19M017755', 'score': 0.44}]
chr19	GH19I017845	17845797	17851953	2.18	[{'connected_gene': 'JAK3', 'score': 563.67}, {'connected_gene': 'FCHO1', 'score': 13.96}, {'connected_gene': 'B3GNT3', 'score': 12.85}, {'connected_gene': 'INSL3', 'score': 12.75}, {'connected_gene': 'UNC13A', 'score': 11.27}, {'connected_gene': 'RPL18A', 'score': 9.78}, {'connected_gene': 'MAST3', 'score': 5.47}, {'connected_gene': 'FAM129C', 'score': 4.11}, {'connected_gene': 'IL12RB1', 'score': 3.4}, {'connected_gene': 'ARRDC2', 'score': 2.54}, {'connected_gene': 'IFI30', 'score': 1.47}, {'connected_gene': 'PIR41673', 'score': 0.77}]
chr19	GH19I017706	17706832	17706981	0.69	[{'connected_gene': 'INSL3', 'score': 12.04}, {'connected_gene': 'B3GNT3', 'score': 11.72}, {'connected_gene': 'UNC13A', 'score': 5.14}, {'connected_gene': 'PIR50741', 'score': 0.77}, {'connected_gene': 'MAP1S', 'score': 0.39}]
chr19	GH19I017821	17821509	17821568	0.5	[{'connected_gene': 'INSL3', 'score': 550.77}, {'connected_gene': 'B3GNT3', 'score': 0.31}]
chr19	GH19I017823	17823875	17824131	0.2	[{'connected_gene': 'INSL3', 'score': 0.77}, {'connected_gene': 'GC19M017837', 'score': 0.37}]
chr19	GH19I017824	17824332	17824606	0.31	[{'connected_gene': 'INSL3', 'score': 0.77}, {'connected_gene': 'GC19M017837', 'score': 0.37}]
chr19	GH19I017775	17775432	17777276	1.07	[{'connected_gene': 'FCHO1', 'score': 17.1}, {'connected_gene': 'UNC13A', 'score': 12.19}, {'connected_gene': 'RPL18A', 'score': 11.72}, {'connected_gene': 'INSL3', 'score': 11.72}, {'connected_gene': 'SNORA68', 'score': 11.71}, {'connected_gene': 'GC19M017755', 'score': 0.39}, {'connected_gene': 'B3GNT3', 'score': 0.37}]
chr19	GH19I017767	17767406	17768339	0.46	[{'connected_gene': 'FCHO1', 'score': 14.81}, {'connected_gene': 'B3GNT3', 'score': 12.97}, {'connected_gene': 'UNC13A', 'score': 12.39}, {'connected_gene': 'MAP1S', 'score': 12.18}, {'connected_gene': 'INSL3', 'score': 11.71}, {'connected_gene': 'SNORA68', 'score': 11.71}, {'connected_gene': 'RPL18A', 'score': 11.71}, {'connected_gene': 'MVB12A', 'score': 10.3}, {'connected_gene': 'PLVAP', 'score': 10.3}, {'connected_gene': 'GC19M017755', 'score': 0.77}]
chr19	GH19I017770	17770073	17771349	0.38	[{'connected_gene': 'UNC13A', 'score': 12.2}, {'connected_gene': 'RPL18A', 'score': 11.71}, {'connected_gene': 'INSL3', 'score': 11.71}, {'connected_gene': 'SNORA68', 'score': 11.71}, {'connected_gene': 'FCHO1', 'score': 9.21}, {'connected_gene': 'GC19M017755', 'score': 0.44}, {'connected_gene': 'B3GNT3', 'score': 0.34}]
chr19	GH19I017794	17794006	17799806	1.92	[{'connected_gene': 'B3GNT3', 'score': 576.9}, {'connected_gene': 'ENSG00000268030', 'score': 20.18}, {'connected_gene': 'MVB12A', 'score': 13.53}, {'connected_gene': 'ENSG00000268938', 'score': 12.84}, {'connected_gene': 'HAUS8', 'score': 11.36}, {'connected_gene': 'COLGALT1', 'score': 11.34}, {'connected_gene': 'ENSG00000269191', 'score': 11.31}, {'connected_gene': 'IQCN', 'score': 10.43}, {'connected_gene': 'PLVAP', 'score': 10.05}, {'connected_gene': 'KXD1', 'score': 9.98}, {'connected_gene': 'ENSG00000268743', 'score': 9.67}, {'connected_gene': 'INSL3', 'score': 0.34}]
chr19	GH19I017827	17827801	17828200	0.51	[{'connected_gene': 'B3GNT3', 'score': 13.08}, {'connected_gene': 'INSL3', 'score': 0.44}, {'connected_gene': 'GC19M017837', 'score': 0.39}, {'connected_gene': 'JAK3', 'score': 0.34}]
chr19	GH19I017806	17806835	17807285	0.46	[{'connected_gene': 'B3GNT3', 'score': 0.39}, {'connected_gene': 'INSL3', 'score': 0.39}]
chr19	GH19I017802	17802216	17802842	0.57	[{'connected_gene': 'B3GNT3', 'score': 0.44}, {'connected_gene': 'INSL3', 'score': 0.37}]
chr19	GH19I017803	17803201	17803891	0.78	[{'connected_gene': 'B3GNT3', 'score': 0.44}, {'connected_gene': 'INSL3', 'score': 0.37}]
chr19	GH19I017841	17841040	17843588	1.62	[{'connected_gene': 'GC19M017837', 'score': 550.77}, {'connected_gene': 'INSL3', 'score': 13.35}, {'connected_gene': 'RAB3A', 'score': 6.98}, {'connected_gene': 'JAK3', 'score': 4.8}]
chr19	GH19I017703	17703892	17704121	0.66	[{'connected_gene': 'PIR50741', 'score': 550.77}, {'connected_gene': 'INSL3', 'score': 11.6}, {'connected_gene': 'SNORA68', 'score': 11.56}, {'connected_gene': 'RPL18A', 'score': 11.56}, {'connected_gene': 'MAP1S', 'score': 0.37}]
chr19	GH19I017764	17764295	17767381	1.37	[{'connected_gene': 'GC19M017755', 'score': 550.77}, {'connected_gene': 'B3GNT3', 'score': 12.97}, {'connected_gene': 'UNC13A', 'score': 12.39}, {'connected_gene': 'MAP1S', 'score': 12.18}, {'connected_gene': 'INSL3', 'score': 11.54}, {'connected_gene': 'MVB12A', 'score': 10.3}, {'connected_gene': 'PLVAP', 'score': 10.3}, {'connected_gene': 'FCHO1', 'score': 10.24}]