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
ENST00000216513	[[61176245, 61180921], [61186477, 61187163], [61189929, 61190852]]	[[61180124, 61180921], [61186477, 61187163], [61189929, 61190792]]
ENST00000554079	[[61179884, 61180921], [61186477, 61187163], [61187697, 61187862], [61189768, 61189883]]	[[61187840, 61187862], [61189768, 61189883]]
ENST00000556952	[[61186519, 61187163], [61189929, 61190765], [61190973, 61191066]]	[[61186519, 61187163], [61189929, 61190765], [61190973, 61190976]]
NM_017420	[[61176255, 61180921], [61186477, 61187163], [61189929, 61190852]]	[[61180124, 61180921], [61186477, 61187163], [61189929, 61190792]]

Promoter

Chrom	Start	End	Description
chr14	61190359	61190385	CAGE_peak_4_at_SIX4_5end
chr14	61190754	61190776	CAGE_peak_6_at_SIX4_5end
chr14	61191018	61191048	CAGE_peak_1_at_SIX4_5end
chr14	61191049	61191080	CAGE_peak_2_at_SIX4_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	GH14I060679	60679623	60679832	0.2	[{'connected_gene': 'SIX1', 'score': 12.14}, {'connected_gene': 'SIX4', 'score': 10.78}, {'connected_gene': 'C14orf39', 'score': 5.08}, {'connected_gene': 'LINC01303', 'score': 4.24}, {'connected_gene': 'GC14M060376', 'score': 0.26}]
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	GH14I060311	60311485	60311761	0.78	[{'connected_gene': 'TRMT5', 'score': 11.4}, {'connected_gene': 'SIX6', 'score': 10.23}, {'connected_gene': 'SIX4', 'score': 10.11}, {'connected_gene': 'GPR135', 'score': 10.11}, {'connected_gene': 'PPM1A', 'score': 1.47}, {'connected_gene': 'LINC02322', 'score': 0.44}, {'connected_gene': 'GC14P060353', 'score': 0.26}]
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	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	GH14I060989	60989218	60990228	1.19	[{'connected_gene': 'SIX4', 'score': 9.66}, {'connected_gene': 'SIX1', 'score': 4.53}, {'connected_gene': 'SLC38A6', 'score': 2.67}, {'connected_gene': 'TRMT5', 'score': 0.44}, {'connected_gene': 'LOC101927756', 'score': 0.22}]
chr14	GH14I060720	60720449	60725012	2.28	[{'connected_gene': 'SIX4', 'score': 550.77}, {'connected_gene': 'GC14M060376', 'score': 550.77}, {'connected_gene': 'TRMT5', 'score': 14.77}, {'connected_gene': 'MNAT1', 'score': 13.92}, {'connected_gene': 'SCOCP1', 'score': 12.21}, {'connected_gene': 'RTN1', 'score': 6.58}, {'connected_gene': 'PPM1A', 'score': 1.47}]
chr14	GH14I060986	60986001	60986200	0.31	[{'connected_gene': 'SIX4', 'score': 9.6}, {'connected_gene': 'TRMT5', 'score': 0.77}, {'connected_gene': 'SLC38A6', 'score': 0.77}, {'connected_gene': 'LOC101927756', 'score': 0.21}]
chr14	GH14I060983	60983801	60984200	0.31	[{'connected_gene': 'SIX4', 'score': 8.72}, {'connected_gene': 'TRMT5', 'score': 0.77}, {'connected_gene': 'SLC38A6', 'score': 0.77}, {'connected_gene': 'LOC101927756', 'score': 0.2}]
chr14	GH14I060987	60987001	60987200	0.2	[{'connected_gene': 'SIX4', 'score': 9.67}, {'connected_gene': 'TRMT5', 'score': 0.44}, {'connected_gene': 'SLC38A6', 'score': 0.44}, {'connected_gene': 'LOC101927756', 'score': 0.21}]
chr14	GH14I060984	60984801	60985200	0.2	[{'connected_gene': 'SIX4', 'score': 8.72}, {'connected_gene': 'TRMT5', 'score': 0.77}, {'connected_gene': 'SLC38A6', 'score': 0.77}, {'connected_gene': 'LOC101927756', 'score': 0.21}]
chr14	GH14I060753	60753201	60754592	0.98	[{'connected_gene': 'SIX4', 'score': 17.3}, {'connected_gene': 'MNAT1', 'score': 0.37}, {'connected_gene': 'MAD2L1P1', 'score': 0.31}]
chr14	GH14I060815	60815543	60815692	0.89	[{'connected_gene': 'SIX4', 'score': 10.18}, {'connected_gene': 'MAD2L1P1', 'score': 0.28}, {'connected_gene': 'ENSG00000258892', 'score': 0.21}, {'connected_gene': 'MNAT1', 'score': 0.18}]
chr14	GH14I060790	60790243	60790392	0.2	[{'connected_gene': 'SIX4', 'score': 10.54}, {'connected_gene': 'MAD2L1P1', 'score': 0.39}, {'connected_gene': 'MNAT1', 'score': 0.22}, {'connected_gene': 'ENSG00000258892', 'score': 0.17}]
chr14	GH14I060775	60775383	60775572	0.38	[{'connected_gene': 'SIX4', 'score': 10.52}, {'connected_gene': 'MAD2L1P1', 'score': 0.77}, {'connected_gene': 'MNAT1', 'score': 0.26}]
chr14	GH14I060664	60664313	60666162	1.01	[{'connected_gene': 'SIX4', 'score': 10.7}, {'connected_gene': 'C14orf39', 'score': 5.3}, {'connected_gene': 'SIX1', 'score': 0.44}, {'connected_gene': 'GC14M060376', 'score': 0.22}]
chr14	GH14I060662	60662478	60663883	0.63	[{'connected_gene': 'SIX4', 'score': 10.69}, {'connected_gene': 'C14orf39', 'score': 6.4}, {'connected_gene': 'SIX1', 'score': 0.77}, {'connected_gene': 'GC14M060376', 'score': 0.22}]
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	GH14I061174	61174491	61175792	0.69	[{'connected_gene': 'SIX4', 'score': 9.06}, {'connected_gene': 'LINC01303', 'score': 4.1}, {'connected_gene': 'PRKCH', 'score': 0.39}, {'connected_gene': 'GC14M061127', 'score': 0.26}]
chr14	GH14I060670	60670312	60671769	0.2	[{'connected_gene': 'MNAT1', 'score': 10.93}, {'connected_gene': 'SIX4', 'score': 10.68}, {'connected_gene': 'SIX1', 'score': 0.39}, {'connected_gene': 'GC14M060376', 'score': 0.23}]
chr14	GH14I060760	60760058	60762095	0.66	[{'connected_gene': 'MNAT1', 'score': 11.19}, {'connected_gene': 'SIX4', 'score': 11.01}, {'connected_gene': 'TRMT5', 'score': 9.91}, {'connected_gene': 'SLC38A6', 'score': 9.91}, {'connected_gene': 'MAD2L1P1', 'score': 0.37}]
chr14	GH14I060777	60777271	60779117	0.38	[{'connected_gene': 'MAD2L1P1', 'score': 550.77}, {'connected_gene': 'SIX4', 'score': 10.52}, {'connected_gene': 'HIF1A-AS1', 'score': 4.4}, {'connected_gene': 'MNAT1', 'score': 0.26}]
chr14	GH14I060624	60624214	60626200	0.97	[{'connected_gene': 'C14orf39', 'score': 16.43}, {'connected_gene': 'SIX4', 'score': 6.63}, {'connected_gene': 'SALRNA1', 'score': 0.39}, {'connected_gene': 'LOC105378189', 'score': 0.37}, {'connected_gene': 'RPS15AP4', 'score': 0.34}, {'connected_gene': 'GC14M060376', 'score': 0.15}]
chr14	GH14I061551	61551080	61578305	1.85	[{'connected_gene': 'HIF1A', 'score': 23.04}, {'connected_gene': 'SLC38A6', 'score': 21.93}, {'connected_gene': 'TRMT5', 'score': 11.47}, {'connected_gene': 'SIX4', 'score': 10.52}, {'connected_gene': 'FLJ22447', 'score': 5.91}, {'connected_gene': 'LINC01303', 'score': 5.81}, {'connected_gene': 'HIF1A-AS2', 'score': 4.45}, {'connected_gene': 'LOC105370525', 'score': 0.37}, {'connected_gene': 'ENSG00000258989', 'score': 0.28}]
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	GH14I060756	60756115	60759726	0.8	[{'connected_gene': 'SLC38A6', 'score': 15.03}, {'connected_gene': 'MNAT1', 'score': 11.22}, {'connected_gene': 'SIX4', 'score': 11.03}, {'connected_gene': 'TRMT5', 'score': 9.91}, {'connected_gene': 'MAD2L1P1', 'score': 0.34}]
chr14	GH14I060929	60929612	60932530	0.38	[{'connected_gene': 'RNU6-398P', 'score': 11.11}, {'connected_gene': 'SIX4', 'score': 9.92}, {'connected_gene': 'SRMP2', 'score': 0.39}, {'connected_gene': 'ENSG00000258656', 'score': 0.26}, {'connected_gene': 'ENSG00000258892', 'score': 0.23}, {'connected_gene': 'MNAT1', 'score': 0.08}]
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}]