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
ENST00000247182	[[61110132, 61113295], [61115347, 61116180]]	[[61113000, 61113295], [61115347, 61115907]]
ENST00000555955	[[61111988, 61113295], [61118652, 61119849]]	[[61119518, 61119849]]
ENST00000553535	[[61112681, 61113295], [61118652, 61118836], [61119680, 61119744]]	[[61119729, 61119744]]
ENST00000554986	[[61112860, 61113295], [61124900, 61124977]]	[[61113000, 61113295], [61124900, 61124941]]
ENST00000555627	[[61118492, 61118836], [61119680, 61119797]]	None
NM_005982	[[61111416, 61113295], [61115347, 61116155]]	[[61113000, 61113295], [61115347, 61115907]]

Promoter

Chrom	Start	End	Description
chr14	61116168	61116180	CAGE_peak_2_at_SIX1_5end
chr14	61116183	61116208	CAGE_peak_1_at_SIX1_5end
chr14	61125018	61125037	CAGE_peak_9_at_SIX1_5end
chr14	61125184	61125196	CAGE_peak_8_at_SIX1_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	GH14I061212	61212768	61213494	0.31	[{'connected_gene': 'SIX1', 'score': 10.29}, {'connected_gene': 'PRKCH', 'score': 0.31}, {'connected_gene': 'TMEM30B', 'score': 0.2}]
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	GH14I061080	61080221	61081493	0.56	[{'connected_gene': 'SIX1', 'score': 4.7}, {'connected_gene': 'LOC105378182', 'score': 0.29}, {'connected_gene': 'LOC101927756', 'score': 0.29}, {'connected_gene': 'SLC38A6', 'score': 0.15}]
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	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	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	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	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	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	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	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}]