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
ENST00000380752	[[30083546, 30088720], [30090274, 30090383], [30091280, 30091447], [30091709, 30091927], [30093583, 30093686], [30096453, 30096593], [30097402, 30097625], [30098268, 30098390], [30104674, 30104849], [30106960, 30107119], [30109955, 30110339], [30127897, 30127997], [30169552, 30169825]]	[[30088616, 30088720], [30090274, 30090383], [30091280, 30091447], [30091709, 30091927], [30093583, 30093686], [30096453, 30096593], [30097402, 30097625], [30098268, 30098390], [30104674, 30104849], [30106960, 30107119], [30109955, 30110325]]
ENST00000450494	[[30109960, 30110339], [30127897, 30127997], [30160861, 30160929]]	[[30109960, 30110325]]
ENST00000473577	[[30091003, 30091447], [30091709, 30091927], [30093583, 30093647]]	None
NM_003045	[[30083550, 30088720], [30090274, 30090383], [30091280, 30091447], [30091709, 30091927], [30093583, 30093686], [30096453, 30096593], [30097402, 30097625], [30098268, 30098390], [30104674, 30104849], [30106960, 30107119], [30109955, 30110339], [30127897, 30127997], [30169552, 30169825]]	[[30088616, 30088720], [30090274, 30090383], [30091280, 30091447], [30091709, 30091927], [30093583, 30093686], [30096453, 30096593], [30097402, 30097625], [30098268, 30098390], [30104674, 30104849], [30106960, 30107119], [30109955, 30110325]]

Promoter

Chrom	Start	End	Description
chr13	30086741	30086761	CAGE_peak_10_at_SLC7A1_5end
chr13	30160925	30160931	CAGE_peak_4_at_SLC7A1_5end
chr13	30169584	30169658	CAGE_peak_3_at_SLC7A1_5end
chr13	30169751	30169756	CAGE_peak_9_at_SLC7A1_5end
chr13	30169766	30169799	CAGE_peak_1_at_SLC7A1_5end
chr13	30169807	30169839	CAGE_peak_2_at_SLC7A1_5end
chr13	30169890	30169901	CAGE_peak_7_at_SLC7A1_5end
chr13	30169916	30169929	CAGE_peak_6_at_SLC7A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I029676	29676314	29678251	0.63	[{'connected_gene': 'SLC7A1', 'score': 11.43}, {'connected_gene': 'LOC105370139', 'score': 0.37}, {'connected_gene': 'GC13M029655', 'score': 0.34}]
chr13	GH13I029702	29702560	29704033	0.79	[{'connected_gene': 'SLC7A1', 'score': 14.98}, {'connected_gene': 'MTUS2-AS1', 'score': 11.29}, {'connected_gene': 'MTUS2', 'score': 11.24}, {'connected_gene': 'LOC105370139', 'score': 0.44}, {'connected_gene': 'UBL3', 'score': 0.11}]
chr13	GH13I029562	29562330	29564511	0.54	[{'connected_gene': 'SLC7A1', 'score': 12.25}, {'connected_gene': 'MTUS2-AS1', 'score': 10.52}, {'connected_gene': 'MTUS2', 'score': 10.35}, {'connected_gene': 'PIR32808', 'score': 0.44}, {'connected_gene': 'GC13M029513', 'score': 0.23}, {'connected_gene': 'PIR35309', 'score': 0.23}]
chr13	GH13I029565	29565124	29566131	0.38	[{'connected_gene': 'SLC7A1', 'score': 13.06}, {'connected_gene': 'MTUS2-AS1', 'score': 10.96}, {'connected_gene': 'MTUS2', 'score': 10.8}, {'connected_gene': 'PIR32808', 'score': 0.77}, {'connected_gene': 'GC13M029513', 'score': 0.23}, {'connected_gene': 'PIR35309', 'score': 0.23}]
chr13	GH13I029560	29560991	29562247	0.59	[{'connected_gene': 'SLC7A1', 'score': 12.25}, {'connected_gene': 'MTUS2-AS1', 'score': 10.52}, {'connected_gene': 'MTUS2', 'score': 10.35}, {'connected_gene': 'PIR32808', 'score': 0.44}, {'connected_gene': 'GC13M029513', 'score': 0.25}, {'connected_gene': 'PIR35309', 'score': 0.25}]
chr13	GH13I029516	29516348	29517368	0.2	[{'connected_gene': 'SLC7A1', 'score': 11.3}, {'connected_gene': 'GC13M029513', 'score': 0.77}, {'connected_gene': 'PIR35309', 'score': 0.77}, {'connected_gene': 'PIR32808', 'score': 0.23}]
chr13	GH13I029513	29513136	29515856	0.58	[{'connected_gene': 'SLC7A1', 'score': 15.89}, {'connected_gene': 'GC13M029513', 'score': 0.77}, {'connected_gene': 'PIR35309', 'score': 0.77}, {'connected_gene': 'PIR32808', 'score': 0.22}]
chr13	GH13I029592	29592770	29596453	2.16	[{'connected_gene': 'SLC7A1', 'score': 556.58}, {'connected_gene': 'GC13P029586', 'score': 0.44}]
chr13	GH13I029591	29591267	29592003	0.58	[{'connected_gene': 'SLC7A1', 'score': 6.1}, {'connected_gene': 'GC13P029586', 'score': 0.77}]
chr13	GH13I029771	29771284	29771433	0.49	[{'connected_gene': 'UBL3', 'score': 11.21}, {'connected_gene': 'SLC7A1', 'score': 6.6}, {'connected_gene': 'LOC105370139', 'score': 0.18}]
chr13	GH13I029846	29846605	29851412	1.99	[{'connected_gene': 'UBL3', 'score': 550.77}, {'connected_gene': 'SLC7A1', 'score': 9.83}, {'connected_gene': 'LOC105370139', 'score': 0.1}]
chr13	GH13I029749	29749924	29750073	0.38	[{'connected_gene': 'UBL3', 'score': 10.28}, {'connected_gene': 'SLC7A1', 'score': 10.26}, {'connected_gene': 'LINC00572', 'score': 10.01}, {'connected_gene': 'LOC105370139', 'score': 0.23}]
chr13	GH13I029884	29884184	29885833	0.43	[{'connected_gene': 'LINC00544', 'score': 11.16}, {'connected_gene': 'UBL3', 'score': 11.11}, {'connected_gene': 'LINC00572', 'score': 10.85}, {'connected_gene': 'SLC7A1', 'score': 4.91}, {'connected_gene': 'LINC00297', 'score': 0.77}, {'connected_gene': 'TIMM8BP1', 'score': 0.37}]
chr13	GH13I029861	29861068	29862925	0.46	[{'connected_gene': 'LINC00544', 'score': 10.44}, {'connected_gene': 'LINC00572', 'score': 10.25}, {'connected_gene': 'SLC7A1', 'score': 9.35}, {'connected_gene': 'ENSG00000278172', 'score': 0.77}, {'connected_gene': 'UBL3', 'score': 0.39}]
chr13	GH13I029538	29538281	29539308	0.4	[{'connected_gene': 'EIF4A1P7', 'score': 4.68}, {'connected_gene': 'GC13M029513', 'score': 0.31}, {'connected_gene': 'PIR35309', 'score': 0.31}, {'connected_gene': 'PIR32808', 'score': 0.29}, {'connected_gene': 'SLC7A1', 'score': 0.22}]
chr13	GH13I029531	29531355	29533171	0.51	[{'connected_gene': 'EIF4A1P7', 'score': 5.04}, {'connected_gene': 'GC13M029513', 'score': 0.37}, {'connected_gene': 'PIR35309', 'score': 0.37}, {'connected_gene': 'PIR32808', 'score': 0.28}, {'connected_gene': 'SLC7A1', 'score': 0.21}]
chr13	GH13I029529	29529427	29530255	0.2	[{'connected_gene': 'EIF4A1P7', 'score': 4.61}, {'connected_gene': 'GC13M029513', 'score': 0.37}, {'connected_gene': 'PIR35309', 'score': 0.37}, {'connected_gene': 'PIR32808', 'score': 0.26}, {'connected_gene': 'SLC7A1', 'score': 0.2}]
chr13	GH13I029471	29471510	29472000	0.58	[{'connected_gene': 'MTUS2', 'score': 11.66}, {'connected_gene': 'SLC7A1', 'score': 10.1}, {'connected_gene': 'MTUS2-AS1', 'score': 0.37}, {'connected_gene': 'PIR44178', 'score': 0.18}]
chr13	GH13I029519	29519631	29525470	0.76	[{'connected_gene': 'MTUS2-AS1', 'score': 12.22}, {'connected_gene': 'MTUS2', 'score': 11.96}, {'connected_gene': 'SLC7A1', 'score': 11.31}, {'connected_gene': 'EIF4A1P7', 'score': 5.01}, {'connected_gene': 'GC13M029513', 'score': 0.39}, {'connected_gene': 'PIR35309', 'score': 0.39}, {'connected_gene': 'PIR32808', 'score': 0.25}]
chr13	GH13I029577	29577284	29577433	0.4	[{'connected_gene': 'MTUS2-AS1', 'score': 10.53}, {'connected_gene': 'MTUS2', 'score': 10.39}, {'connected_gene': 'GC13P029586', 'score': 0.44}, {'connected_gene': 'PIR32808', 'score': 0.44}, {'connected_gene': 'SLC7A1', 'score': 0.37}]
chr13	GH13I029580	29580912	29584294	1.05	[{'connected_gene': 'MTUS2-AS1', 'score': 10.52}, {'connected_gene': 'MTUS2', 'score': 10.39}, {'connected_gene': 'UBL3', 'score': 9.17}, {'connected_gene': 'GC13P029586', 'score': 0.77}, {'connected_gene': 'SLC7A1', 'score': 0.39}, {'connected_gene': 'PIR32808', 'score': 0.39}]
chr13	GH13I029654	29654904	29655053	0.38	[{'connected_gene': 'GC13M029655', 'score': 550.77}, {'connected_gene': 'SLC7A1', 'score': 11.17}, {'connected_gene': 'LOC102723345', 'score': 0.44}]
chr13	GH13I029566	29566368	29570923	0.54	[{'connected_gene': 'PIR32808', 'score': 550.77}, {'connected_gene': 'SLC7A1', 'score': 13.08}, {'connected_gene': 'MTUS2-AS1', 'score': 10.96}, {'connected_gene': 'MTUS2', 'score': 10.8}, {'connected_gene': 'GC13M029513', 'score': 0.22}, {'connected_gene': 'PIR35309', 'score': 0.22}]
chr13	GH13I029507	29507076	29509693	1.21	[{'connected_gene': 'PIR48904', 'score': 550.77}, {'connected_gene': 'SLC7A1', 'score': 11.27}, {'connected_gene': 'MTUS2-AS1', 'score': 0.37}]
chr13	GH13I029586	29586555	29588063	0.43	[{'connected_gene': 'GC13P029586', 'score': 550.77}, {'connected_gene': 'SLC7A1', 'score': 0.44}]
chr13	GH13I029588	29588646	29590479	0.66	[{'connected_gene': 'GC13P029586', 'score': 0.77}, {'connected_gene': 'SLC7A1', 'score': 0.44}]
chr13	GH13I029512	29512084	29512213	0.58	[{'connected_gene': 'GC13M029513', 'score': 550.77}, {'connected_gene': 'PIR61494', 'score': 550.77}, {'connected_gene': 'PIR35309', 'score': 550.77}, {'connected_gene': 'SLC7A1', 'score': 11.29}]
chr13	GH13I029572	29572660	29574040	0.8	[{'connected_gene': 'PIR32808', 'score': 0.77}, {'connected_gene': 'GC13P029586', 'score': 0.39}, {'connected_gene': 'SLC7A1', 'score': 0.34}]
chr13	GH13I029584	29584890	29586115	0.2	[{'connected_gene': 'GC13P029586', 'score': 550.77}, {'connected_gene': 'SLC7A1', 'score': 0.39}, {'connected_gene': 'PIR32808', 'score': 0.37}]
chr13	GH13I029547	29547680	29549740	0.57	[{'connected_gene': 'PIR32808', 'score': 0.34}, {'connected_gene': 'GC13M029513', 'score': 0.28}, {'connected_gene': 'PIR35309', 'score': 0.28}, {'connected_gene': 'SLC7A1', 'score': 0.25}]
chr13	GH13I029543	29543163	29543953	0.65	[{'connected_gene': 'PIR32808', 'score': 0.31}, {'connected_gene': 'GC13M029513', 'score': 0.29}, {'connected_gene': 'PIR35309', 'score': 0.29}, {'connected_gene': 'SLC7A1', 'score': 0.23}]