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
ENST00000261249	[[61438168, 61441912], [61442192, 61442844], [61444231, 61444356], [61445948, 61446604], [61447680, 61448076]]	[[61441826, 61441912], [61442192, 61442844], [61444231, 61444356], [61445948, 61446604], [61447680, 61447691]]
ENST00000553903	[[61446191, 61446604], [61447741, 61447888]]	[[61446191, 61446604], [61447741, 61447836]]
ENST00000555420	[[61446240, 61446604], [61447561, 61447769]]	[[61446240, 61446604], [61447561, 61447653]]
NM_020810	[[61438158, 61441912], [61442192, 61442844], [61444231, 61444356], [61445948, 61446604], [61447680, 61447797]]	[[61441826, 61441912], [61442192, 61442844], [61444231, 61444356], [61445948, 61446604], [61447680, 61447691]]

Promoter

Chrom	Start	End	Description
chr14	61447752	61447817	CAGE_peak_1_at_TRMT5_5end
chr14	61448356	61448375	CAGE_peak_3_at_TRMT5_5end
chr14	61448382	61448412	CAGE_peak_2_at_TRMT5_5end
chr14	61448418	61448429	CAGE_peak_5_at_TRMT5_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	GH14I061024	61024863	61026805	0.87	[{'connected_gene': 'SIX1', 'score': 15.24}, {'connected_gene': 'TRMT5', 'score': 10.75}, {'connected_gene': 'SLC38A6', 'score': 10.75}, {'connected_gene': 'RNU6-398P', 'score': 10.55}, {'connected_gene': 'PRKCH', 'score': 10.41}, {'connected_gene': 'LOC101927756', 'score': 0.34}]
chr14	GH14I060090	60090603	60096835	2.49	[{'connected_gene': 'PCNX4', 'score': 563.62}, {'connected_gene': 'LOC105370524', 'score': 550.77}, {'connected_gene': 'DHRS7', 'score': 15.49}, {'connected_gene': 'L3HYPDH', 'score': 14.06}, {'connected_gene': 'SCOCP1', 'score': 11.52}, {'connected_gene': 'TRMT5', 'score': 11.15}, {'connected_gene': 'GC14P060140', 'score': 0.25}]
chr14	GH14I061365	61365433	61369533	1.33	[{'connected_gene': 'TRMT5', 'score': 14.26}, {'connected_gene': 'ENSG00000247287', 'score': 0.26}, {'connected_gene': 'GC14M061347', 'score': 0.13}, {'connected_gene': 'PRKCH', 'score': 0.1}]
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	GH14I061098	61098239	61099954	0.31	[{'connected_gene': 'TRMT5', 'score': 9.7}, {'connected_gene': 'SLC38A6', 'score': 9.7}, {'connected_gene': 'SIX1', 'score': 5.2}, {'connected_gene': 'PPM1A', 'score': 5.15}, {'connected_gene': 'LOC105378182', 'score': 0.39}, {'connected_gene': 'LOC101927756', 'score': 0.25}]
chr14	GH14I060979	60979279	60983141	2.07	[{'connected_gene': 'TRMT5', 'score': 550.77}, {'connected_gene': 'SLC38A6', 'score': 550.77}, {'connected_gene': 'ENSG00000258892', 'score': 0.15}]
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	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	GH14I060247	60247069	60252544	2.28	[{'connected_gene': 'PPM1A', 'score': 568.96}, {'connected_gene': 'LOC101927702', 'score': 550.77}, {'connected_gene': 'TRMT5', 'score': 10.18}, {'connected_gene': 'GC14P060294', 'score': 0.26}]
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	GH14I060734	60734143	60737272	2.1	[{'connected_gene': 'MNAT1', 'score': 550.77}, {'connected_gene': 'TRMT5', 'score': 20.66}, {'connected_gene': 'PCNX4', 'score': 11.44}, {'connected_gene': 'SLC38A6', 'score': 10.07}, {'connected_gene': 'RBM8B', 'score': 9.72}, {'connected_gene': 'RNU6-398P', 'score': 9.67}, {'connected_gene': 'MAD2L1P1', 'score': 0.26}]
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	GH14I061660	61660049	61664535	1.4	[{'connected_gene': 'FLJ22447', 'score': 18.79}, {'connected_gene': 'HIF1A', 'score': 17.28}, {'connected_gene': 'SLC38A6', 'score': 13.35}, {'connected_gene': 'TRMT5', 'score': 11.16}, {'connected_gene': 'LINC01303', 'score': 10.98}, {'connected_gene': 'GC14P061694', 'score': 0.29}, {'connected_gene': 'GC14P061590', 'score': 0.19}]
chr14	GH14I060485	60485220	60486692	1.34	[{'connected_gene': 'C14orf39', 'score': 573.97}, {'connected_gene': 'TRMT5', 'score': 13.62}, {'connected_gene': 'SIX6', 'score': 11.41}, {'connected_gene': 'SALL4P7', 'score': 0.39}, {'connected_gene': 'GNRHR2P1', 'score': 0.17}, {'connected_gene': 'GC14M060376', 'score': 0.07}]
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	GH14I061100	61100579	61105226	1.78	[{'connected_gene': 'SLC38A6', 'score': 12.02}, {'connected_gene': 'TRMT5', 'score': 10.09}, {'connected_gene': 'C14orf39', 'score': 5.99}, {'connected_gene': 'SIX1', 'score': 5.14}, {'connected_gene': 'PPM1A', 'score': 4.63}, {'connected_gene': 'LOC105378182', 'score': 0.39}, {'connected_gene': 'LOC101927756', 'score': 0.23}]
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	GH14I060330	60330801	60332532	1.27	[{'connected_gene': 'L3HYPDH', 'score': 22.03}, {'connected_gene': 'C14orf39', 'score': 14.51}, {'connected_gene': 'PCNX4', 'score': 11.47}, {'connected_gene': 'SCOCP1', 'score': 11.19}, {'connected_gene': 'LOC101927702', 'score': 10.83}, {'connected_gene': 'PPM1A', 'score': 10.83}, {'connected_gene': 'TRMT5', 'score': 10.62}, {'connected_gene': 'GC14P060353', 'score': 0.34}, {'connected_gene': 'LINC02322', 'score': 0.31}]
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	GH14I061033	61033243	61033372	0.43	[{'connected_gene': 'LOC101927756', 'score': 0.37}, {'connected_gene': 'TRMT5', 'score': 0.23}, {'connected_gene': 'SLC38A6', 'score': 0.23}]
chr14	GH14I060204	60204150	60205352	1.01	[{'connected_gene': 'LOC101927702', 'score': 11.38}, {'connected_gene': 'PPM1A', 'score': 11.38}, {'connected_gene': 'TRMT5', 'score': 11.16}, {'connected_gene': 'L3HYPDH', 'score': 10.65}, {'connected_gene': 'DHRS7', 'score': 10.53}, {'connected_gene': 'RPL17P2', 'score': 0.44}, {'connected_gene': 'GC14P060180', 'score': 0.31}]