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
ENST00000555868	[[61744087, 61748558]]	[[61746809, 61747865]]
ENST00000355702	[[61744405, 61745492], [61746020, 61747959]]	[[61746809, 61747865]]
ENST00000557163	[[61746589, 61747673], [61748015, 61748194]]	None
ENST00000554497	[[61747520, 61747802], [61748171, 61748479]]	None
NM_001017970	[[61744087, 61748530]]	[[61746809, 61747865]]

Promoter

Chrom	Start	End	Description
chr14	61747893	61747896	CAGE_peak_12_at_TMEM30B_5end
chr14	61747897	61747906	CAGE_peak_10_at_TMEM30B_5end
chr14	61747949	61747974	CAGE_peak_2_at_TMEM30B_5end
chr14	61747978	61747991	CAGE_peak_7_at_TMEM30B_5end
chr14	61748025	61748074	CAGE_peak_1_at_TMEM30B_5end
chr14	61748076	61748115	CAGE_peak_3_at_TMEM30B_5end
chr14	61748121	61748145	CAGE_peak_8_at_TMEM30B_5end
chr14	61748147	61748187	CAGE_peak_4_at_TMEM30B_5end
chr14	61748188	61748205	CAGE_peak_6_at_TMEM30B_5end
chr14	61748209	61748216	CAGE_peak_14_at_TMEM30B_5end
chr14	61748435	61748448	CAGE_peak_17_at_TMEM30B_5end
chr14	61748473	61748492	CAGE_peak_11_at_TMEM30B_5end
chr14	61748505	61748534	CAGE_peak_5_at_TMEM30B_5end
chr14	61748550	61748559	CAGE_peak_16_at_TMEM30B_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I060640	60640562	60659805	2.85	[{'connected_gene': 'SIX1', 'score': 550.44}, {'connected_gene': 'TRMT5', 'score': 45.64}, {'connected_gene': 'SLC38A6', 'score': 31.46}, {'connected_gene': 'PCNX4', 'score': 29.74}, {'connected_gene': 'C14orf39', 'score': 25.92}, {'connected_gene': 'LOC101927702', 'score': 12.32}, {'connected_gene': 'SIX4', 'score': 10.84}, {'connected_gene': 'TMEM30B', 'score': 10.66}, {'connected_gene': 'MNAT1', 'score': 10.62}, {'connected_gene': 'SIX6', 'score': 9.93}, {'connected_gene': 'RNU6-398P', 'score': 9.09}, {'connected_gene': 'PPM1A', 'score': 5.21}, {'connected_gene': 'GC14P060643', 'score': 0.44}, {'connected_gene': 'LOC105378189', 'score': 0.44}, {'connected_gene': 'SALRNA1', 'score': 0.39}, {'connected_gene': 'GC14M060376', 'score': 0.19}]
chr14	GH14I061212	61212768	61213494	0.31	[{'connected_gene': 'SIX1', 'score': 10.29}, {'connected_gene': 'PRKCH', 'score': 0.31}, {'connected_gene': 'TMEM30B', 'score': 0.2}]
chr14	GH14I061266	61266063	61267649	0.31	[{'connected_gene': 'SIX1', 'score': 9.64}, {'connected_gene': 'SIX4', 'score': 9.31}, {'connected_gene': 'TMEM30B', 'score': 5.48}, {'connected_gene': 'ENSG00000247287', 'score': 4.85}, {'connected_gene': 'PRKCH', 'score': 0.18}]
chr14	GH14I060632	60632727	60633228	0.56	[{'connected_gene': 'SIX1', 'score': 11.17}, {'connected_gene': 'TMEM30B', 'score': 10.1}, {'connected_gene': 'SIX4', 'score': 9.77}, {'connected_gene': 'SALRNA1', 'score': 0.44}, {'connected_gene': 'LOC105378189', 'score': 0.39}, {'connected_gene': 'RPS15AP4', 'score': 0.29}, {'connected_gene': 'GC14M060376', 'score': 0.17}]
chr14	GH14I061237	61237528	61237592	0.2	[{'connected_gene': 'PRKCH', 'score': 11.25}, {'connected_gene': 'SIX1', 'score': 10.48}, {'connected_gene': 'SIX4', 'score': 9.65}, {'connected_gene': 'TRMT5', 'score': 9.42}, {'connected_gene': 'SLC38A6', 'score': 9.42}, {'connected_gene': 'C14orf39', 'score': 8.77}, {'connected_gene': 'TMEM30B', 'score': 0.26}]
chr14	GH14I061236	61236743	61236892	0.46	[{'connected_gene': 'PRKCH', 'score': 11.26}, {'connected_gene': 'SIX1', 'score': 10.48}, {'connected_gene': 'SIX4', 'score': 9.65}, {'connected_gene': 'TRMT5', 'score': 9.42}, {'connected_gene': 'SLC38A6', 'score': 9.42}, {'connected_gene': 'C14orf39', 'score': 8.77}, {'connected_gene': 'TMEM30B', 'score': 0.25}]
chr14	GH14I061320	61320635	61354190	2.77	[{'connected_gene': 'PRKCH', 'score': 583.57}, {'connected_gene': 'TRMT5', 'score': 26.02}, {'connected_gene': 'TMEM30B', 'score': 16.38}, {'connected_gene': 'SLC38A6', 'score': 9.78}, {'connected_gene': 'LOC105370527', 'score': 5.58}, {'connected_gene': 'ENSG00000247287', 'score': 5.19}, {'connected_gene': 'GC14M061347', 'score': 0.11}]
chr14	GH14I061186	61186701	61190783	1.44	[{'connected_gene': 'PRKCH', 'score': 560.97}, {'connected_gene': 'TRMT5', 'score': 10.71}, {'connected_gene': 'TMEM30B', 'score': 0.16}]
chr14	GH14I061202	61202384	61204023	0.38	[{'connected_gene': 'PRKCH', 'score': 9.48}, {'connected_gene': 'TRMT5', 'score': 9.45}, {'connected_gene': 'SLC38A6', 'score': 9.45}, {'connected_gene': 'SIX4', 'score': 9.37}, {'connected_gene': 'TMEM30B', 'score': 0.18}]
chr14	GH14I061230	61229503	61229652	0.6	[{'connected_gene': 'PRKCH', 'score': 11.52}, {'connected_gene': 'SIX4', 'score': 9.6}, {'connected_gene': 'TMEM30B', 'score': 0.23}]
chr14	GH14I061229	61229683	61229832	0.56	[{'connected_gene': 'PRKCH', 'score': 11.52}, {'connected_gene': 'SIX4', 'score': 9.6}, {'connected_gene': 'TMEM30B', 'score': 0.23}]
chr14	GH14I061225	61225964	61227020	0.2	[{'connected_gene': 'PRKCH', 'score': 11.53}, {'connected_gene': 'SIX4', 'score': 9.6}, {'connected_gene': 'TMEM30B', 'score': 0.22}]
chr14	GH14I061238	61238403	61239912	0.54	[{'connected_gene': 'PRKCH', 'score': 11.43}, {'connected_gene': 'TMEM30B', 'score': 11.21}, {'connected_gene': 'SIX1', 'score': 10.48}, {'connected_gene': 'SIX4', 'score': 9.76}, {'connected_gene': 'TRMT5', 'score': 9.42}, {'connected_gene': 'SLC38A6', 'score': 9.42}, {'connected_gene': 'C14orf39', 'score': 8.77}]
chr14	GH14I061143	61143964	61155360	1.49	[{'connected_gene': 'PRKCH', 'score': 11.76}, {'connected_gene': 'TMEM30B', 'score': 4.35}, {'connected_gene': 'SIX1', 'score': 2.23}, {'connected_gene': 'GC14M061127', 'score': 0.37}]
chr14	GH14I061376	61376213	61394127	1.64	[{'connected_gene': 'PRKCH', 'score': 12.33}, {'connected_gene': 'TMEM30B', 'score': 11.11}, {'connected_gene': 'SALRNA1', 'score': 5.75}, {'connected_gene': 'LOC105370525', 'score': 5.42}, {'connected_gene': 'ENSG00000247287', 'score': 0.21}, {'connected_gene': 'GC14M061347', 'score': 0.15}]
chr14	GH14I061215	61215383	61215532	0.2	[{'connected_gene': 'PRKCH', 'score': 11.94}, {'connected_gene': 'TMEM30B', 'score': 0.2}]
chr14	GH14I061192	61192563	61193916	0.46	[{'connected_gene': 'PRKCH', 'score': 0.44}, {'connected_gene': 'TMEM30B', 'score': 0.17}]
chr14	GH14I061251	61251989	61253761	0.96	[{'connected_gene': 'SIX4', 'score': 9.84}, {'connected_gene': 'TMEM30B', 'score': 0.31}, {'connected_gene': 'PRKCH', 'score': 0.2}]
chr14	GH14I061459	61459793	61460240	0.59	[{'connected_gene': 'TMEM30B', 'score': 10.44}, {'connected_gene': 'PRKCH', 'score': 5.39}, {'connected_gene': 'LINC01303', 'score': 5.17}, {'connected_gene': 'GC14M061347', 'score': 0.34}, {'connected_gene': 'ENSG00000247287', 'score': 0.12}]
chr14	GH14I061398	61398498	61398739	0.67	[{'connected_gene': 'TMEM30B', 'score': 11.25}, {'connected_gene': 'PRKCH', 'score': 4.79}, {'connected_gene': 'ENSG00000247287', 'score': 0.18}, {'connected_gene': 'GC14M061347', 'score': 0.18}]
chr14	GH14I061394	61394643	61394887	0.4	[{'connected_gene': 'TMEM30B', 'score': 11.1}, {'connected_gene': 'ENSG00000247287', 'score': 0.19}, {'connected_gene': 'GC14M061347', 'score': 0.17}, {'connected_gene': 'PRKCH', 'score': 0.08}]
chr14	GH14I061450	61450852	61455050	0.76	[{'connected_gene': 'TMEM30B', 'score': 11.18}, {'connected_gene': 'GC14M061347', 'score': 0.29}, {'connected_gene': 'ENSG00000247287', 'score': 0.12}, {'connected_gene': 'PRKCH', 'score': 0.06}]
chr14	GH14I061455	61455305	61456307	0.31	[{'connected_gene': 'TMEM30B', 'score': 10.75}, {'connected_gene': 'GC14M061347', 'score': 0.31}, {'connected_gene': 'ENSG00000247287', 'score': 0.12}, {'connected_gene': 'PRKCH', 'score': 0.06}]
chr14	GH14I061297	61297043	61297212	0.54	[{'connected_gene': 'TMEM30B', 'score': 4.74}, {'connected_gene': 'GC14P061300', 'score': 0.77}, {'connected_gene': 'PRKCH', 'score': 0.14}]
chr14	GH14I061397	61397603	61397752	0.4	[{'connected_gene': 'TMEM30B', 'score': 11.25}, {'connected_gene': 'ENSG00000247287', 'score': 0.19}, {'connected_gene': 'GC14M061347', 'score': 0.17}, {'connected_gene': 'PRKCH', 'score': 0.08}]
chr14	GH14I061395	61395220	61395592	0.4	[{'connected_gene': 'TMEM30B', 'score': 11.1}, {'connected_gene': 'ENSG00000247287', 'score': 0.19}, {'connected_gene': 'GC14M061347', 'score': 0.17}, {'connected_gene': 'PRKCH', 'score': 0.08}]
chr14	GH14I061277	61277212	61277766	0.52	[{'connected_gene': 'TMEM30B', 'score': 0.77}, {'connected_gene': 'PRKCH', 'score': 0.17}]
chr14	GH14I061260	61260562	61262219	0.87	[{'connected_gene': 'TMEM30B', 'score': 0.34}, {'connected_gene': 'PRKCH', 'score': 0.19}]
chr14	GH14I061269	61269617	61270200	1.17	[{'connected_gene': 'TMEM30B', 'score': 0.39}, {'connected_gene': 'PRKCH', 'score': 0.18}]
chr14	GH14I061258	61258679	61259726	0.57	[{'connected_gene': 'TMEM30B', 'score': 5.84}, {'connected_gene': 'ENSG00000247287', 'score': 5.79}, {'connected_gene': 'PRKCH', 'score': 0.19}]
chr14	GH14I061456	61456763	61456912	0.92	[{'connected_gene': 'TMEM30B', 'score': 10.75}, {'connected_gene': 'GC14M061347', 'score': 0.31}, {'connected_gene': 'ENSG00000247287', 'score': 0.12}, {'connected_gene': 'PRKCH', 'score': 0.06}]
chr14	GH14I061396	61396183	61396894	0.31	[{'connected_gene': 'TMEM30B', 'score': 11.26}, {'connected_gene': 'ENSG00000247287', 'score': 0.19}, {'connected_gene': 'GC14M061347', 'score': 0.17}, {'connected_gene': 'PRKCH', 'score': 0.08}]
chr14	GH14I061257	61257023	61258262	1.1	[{'connected_gene': 'TMEM30B', 'score': 0.34}, {'connected_gene': 'PRKCH', 'score': 0.19}]
chr14	GH14I061254	61254957	61255372	0.43	[{'connected_gene': 'TMEM30B', 'score': 0.31}, {'connected_gene': 'PRKCH', 'score': 0.2}]
chr14	GH14I061286	61286303	61286600	0.77	[{'connected_gene': 'TMEM30B', 'score': 5.99}, {'connected_gene': 'GC14P061300', 'score': 0.39}, {'connected_gene': 'PRKCH', 'score': 0.15}]
chr14	GH14I061247	61247244	61248848	0.31	[{'connected_gene': 'TMEM30B', 'score': 10.97}, {'connected_gene': 'PRKCH', 'score': 10.82}]
chr14	GH14I061278	61278898	61282668	2.16	[{'connected_gene': 'TMEM30B', 'score': 555.69}, {'connected_gene': 'ENSG00000247287', 'score': 5.2}, {'connected_gene': 'LOC105370525', 'score': 4.24}, {'connected_gene': 'SIX4', 'score': 4.04}, {'connected_gene': 'PRKCH', 'score': 0.16}]
chr14	GH14I061457	61457995	61459712	0.2	[{'connected_gene': 'TMEM30B', 'score': 10.44}, {'connected_gene': 'LINC01303', 'score': 4.01}, {'connected_gene': 'GC14M061347', 'score': 0.34}, {'connected_gene': 'ENSG00000247287', 'score': 0.12}, {'connected_gene': 'PRKCH', 'score': 0.06}]
chr14	GH14I060636	60636671	60639266	0.89	[{'connected_gene': 'SALRNA1', 'score': 550.77}, {'connected_gene': 'C14orf39', 'score': 16.26}, {'connected_gene': 'TRMT5', 'score': 13.63}, {'connected_gene': 'SIX1', 'score': 11.2}, {'connected_gene': 'SIX4', 'score': 10.27}, {'connected_gene': 'TMEM30B', 'score': 10.1}, {'connected_gene': 'LOC105378189', 'score': 0.44}, {'connected_gene': 'RPS15AP4', 'score': 0.28}, {'connected_gene': 'GC14M060376', 'score': 0.18}]
chr14	GH14I061299	61299003	61299052	0.31	[{'connected_gene': 'GC14P061300', 'score': 550.77}, {'connected_gene': 'ENSG00000247287', 'score': 12.99}, {'connected_gene': 'PRKCH', 'score': 12.78}, {'connected_gene': 'TMEM30B', 'score': 0.37}]
chr14	GH14I061399	61399755	61402421	0.43	[{'connected_gene': 'ENSG00000247287', 'score': 12.23}, {'connected_gene': 'PRKCH', 'score': 12.12}, {'connected_gene': 'TMEM30B', 'score': 11.25}, {'connected_gene': 'GC14M061347', 'score': 0.18}]
chr14	GH14I061132	61132576	61133233	0.8	[{'connected_gene': 'GC14M061127', 'score': 550.77}, {'connected_gene': 'TMEM30B', 'score': 4.38}, {'connected_gene': 'PIR50390', 'score': 0.37}, {'connected_gene': 'GC14P061120', 'score': 0.37}]