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
ENST00000536719	[[18489882, 18490765], [18503176, 18503416], [18505416, 18505619], [18524032, 18524124], [18528403, 18528470], [18531088, 18531212], [18536224, 18536388], [18537645, 18537711], [18541065, 18541150], [18548321, 18548498]]	[[18490750, 18490765], [18503176, 18503416], [18505416, 18505619], [18524032, 18524124], [18528403, 18528470], [18531088, 18531212], [18536224, 18536388], [18537645, 18537711], [18541065, 18541150], [18548321, 18548363]]
ENST00000580814	[[18490577, 18490765], [18502031, 18502182], [18503176, 18503278]]	[[18502092, 18502182], [18503176, 18503278]]
ENST00000584526	[[18496765, 18497263], [18501449, 18501593], [18502054, 18502182], [18503176, 18503318]]	[[18502092, 18502182], [18503176, 18503318]]
ENST00000251968	[[18501857, 18502182], [18503176, 18503416], [18505416, 18505619], [18524032, 18524124], [18528403, 18528470], [18531088, 18531212], [18536224, 18536388], [18537645, 18537711], [18541065, 18541150], [18548321, 18548779]]	[[18502092, 18502182], [18503176, 18503416], [18505416, 18505619], [18524032, 18524124], [18528403, 18528470], [18531088, 18531212], [18536224, 18536388], [18537645, 18537711], [18541065, 18541150], [18548321, 18548363]]
ENST00000357193	[[18501859, 18502182], [18503176, 18503416], [18505416, 18505619], [18524032, 18524124], [18528403, 18528470], [18531088, 18531212], [18548321, 18548472]]	[[18502092, 18502182], [18503176, 18503416], [18505416, 18505619], [18524032, 18524124], [18528403, 18528470], [18531088, 18531212], [18548321, 18548363]]
ENST00000540555	[[18503037, 18503416], [18505416, 18505608]]	None
ENST00000545247	[[18505382, 18505619], [18524032, 18524124], [18536224, 18536388], [18537645, 18537711], [18541065, 18541150], [18548321, 18548460]]	None
ENST00000543054	[[18505482, 18505619], [18524032, 18524124], [18528403, 18528470], [18531088, 18531212], [18536224, 18536397]]	None
ENST00000543087	[[18512376, 18512641], [18524032, 18524124], [18528403, 18528470], [18531088, 18531212], [18536224, 18536390]]	None
ENST00000544804	[[18524031, 18524124], [18528403, 18528470], [18531088, 18531212], [18548321, 18548428]]	None
ENST00000438874	[[18524089, 18524124], [18528403, 18528470], [18531088, 18531212], [18536224, 18536388], [18537645, 18537711], [18548321, 18548446]]	None
ENST00000542488	[[18528403, 18528470], [18531088, 18531212], [18537645, 18537711], [18548321, 18548368]]	None
ENST00000535077	[[18528412, 18528470], [18531088, 18531212], [18536224, 18536388], [18537645, 18537711], [18541065, 18541150], [18547207, 18547249], [18548321, 18548467]]	None
NM_006292	[[18501857, 18502182], [18503176, 18503416], [18505416, 18505619], [18524032, 18524124], [18528403, 18528470], [18531088, 18531212], [18536224, 18536388], [18537645, 18537711], [18541065, 18541150], [18548321, 18548503]]	[[18502092, 18502182], [18503176, 18503416], [18505416, 18505619], [18524032, 18524124], [18528403, 18528470], [18531088, 18531212], [18536224, 18536388], [18537645, 18537711], [18541065, 18541150], [18548321, 18548363]]

Promoter

Chrom	Start	End	Description
chr11	18548370	18548377	CAGE_peak_4_at_TSG101_5end
chr11	18548385	18548387	CAGE_peak_5_at_TSG101_5end
chr11	18548394	18548405	CAGE_peak_3_at_TSG101_5end
chr11	18548407	18548424	CAGE_peak_2_at_TSG101_5end
chr11	18548426	18548500	CAGE_peak_1_at_TSG101_5end
chr11	18549188	18549205	CAGE_peak_8_at_TSG101_5end
chr11	18549214	18549231	CAGE_peak_7_at_TSG101_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I019236	19236180	19245260	2.42	[{'connected_gene': 'E2F8', 'score': 550.77}, {'connected_gene': 'SPTY2D1', 'score': 26.54}, {'connected_gene': 'ENSG00000256361', 'score': 12.67}, {'connected_gene': 'ENSG00000256588', 'score': 12.66}, {'connected_gene': 'TSG101', 'score': 11.34}, {'connected_gene': 'ZDHHC13', 'score': 10.67}, {'connected_gene': 'LOC105376580', 'score': 6.78}, {'connected_gene': 'CSRP3', 'score': 0.29}, {'connected_gene': 'ENSG00000255308', 'score': 0.26}]
chr11	GH11I018525	18525600	18528282	2.08	[{'connected_gene': 'TSG101', 'score': 590.04}, {'connected_gene': 'GC11P018527', 'score': 550.77}, {'connected_gene': 'LDHC', 'score': 14.81}, {'connected_gene': 'LDHA', 'score': 10.72}, {'connected_gene': 'HPS5', 'score': 10.25}, {'connected_gene': 'GTF2H1', 'score': 10.25}, {'connected_gene': 'SPTY2D1OS', 'score': 10.18}, {'connected_gene': 'LOC100129966', 'score': 10.17}, {'connected_gene': 'ENSG00000256361', 'score': 0.37}]
chr11	GH11I018587	18587085	18591861	2.04	[{'connected_gene': 'UEVLD', 'score': 550.77}, {'connected_gene': 'SPTY2D1OS', 'score': 550.77}, {'connected_gene': 'SPTY2D1', 'score': 24.07}, {'connected_gene': 'LDHC', 'score': 20.35}, {'connected_gene': 'TSG101', 'score': 19.06}, {'connected_gene': 'SAAL1', 'score': 18.83}, {'connected_gene': 'GTF2H1', 'score': 15.34}, {'connected_gene': 'LOC100129966', 'score': 12.4}, {'connected_gene': 'ENSG00000256361', 'score': 9.89}, {'connected_gene': 'SERGEF', 'score': 4.8}, {'connected_gene': 'GC11M018587', 'score': 0.77}]
chr11	GH11I018578	18578696	18579959	1.57	[{'connected_gene': 'UEVLD', 'score': 550.44}, {'connected_gene': 'LOC100129966', 'score': 12.12}, {'connected_gene': 'SPTY2D1', 'score': 11.28}, {'connected_gene': 'TMEM86A', 'score': 10.43}, {'connected_gene': 'LOC105376579', 'score': 10.08}, {'connected_gene': 'IGSF22', 'score': 10.06}, {'connected_gene': 'TSG101', 'score': 9.66}, {'connected_gene': 'SERGEF', 'score': 9.34}, {'connected_gene': 'SPTY2D1OS', 'score': 0.44}, {'connected_gene': 'ENSG00000274589', 'score': 0.26}]
chr11	GH11I018382	18382569	18385599	1.62	[{'connected_gene': 'LDHC', 'score': 46.03}, {'connected_gene': 'SPTY2D1', 'score': 17.65}, {'connected_gene': 'SAAL1', 'score': 12.86}, {'connected_gene': 'ENSG00000256361', 'score': 12.77}, {'connected_gene': 'ENSG00000256588', 'score': 12.77}, {'connected_gene': 'TSG101', 'score': 12.33}, {'connected_gene': 'LDHA', 'score': 10.44}, {'connected_gene': 'LDHAL6A', 'score': 5.76}, {'connected_gene': 'HPS5', 'score': 2.6}, {'connected_gene': 'MIR3159', 'score': 0.77}, {'connected_gene': 'GC11P018375', 'score': 0.44}]
chr11	GH11I018320	18320198	18325303	2.32	[{'connected_gene': 'GTF2H1', 'score': 610.35}, {'connected_gene': 'HPS5', 'score': 560.51}, {'connected_gene': 'SAAL1', 'score': 60.33}, {'connected_gene': 'SPTY2D1', 'score': 49.2}, {'connected_gene': 'ENSG00000256361', 'score': 34.85}, {'connected_gene': 'TSG101', 'score': 29.21}, {'connected_gene': 'LOC100129966', 'score': 20.92}, {'connected_gene': 'ENSG00000256588', 'score': 12.73}, {'connected_gene': 'LOC105376577', 'score': 0.31}]
chr11	GH11I018010	18010808	18014270	2.19	[{'connected_gene': 'SERGEF', 'score': 592.5}, {'connected_gene': 'SAAL1', 'score': 46.98}, {'connected_gene': 'SNORD14A', 'score': 24.81}, {'connected_gene': 'GTF2H1', 'score': 24.56}, {'connected_gene': 'SNORD14B', 'score': 23.6}, {'connected_gene': 'SPTY2D1', 'score': 23.08}, {'connected_gene': 'ENSG00000256361', 'score': 18.4}, {'connected_gene': 'LOC100129966', 'score': 12.03}, {'connected_gene': 'TSG101', 'score': 10.16}, {'connected_gene': 'ENSG00000255448', 'score': 0.39}, {'connected_gene': 'GC11P017952', 'score': 0.22}]
chr11	GH11I019441	19441332	19443062	1.45	[{'connected_gene': 'SPTY2D1', 'score': 13.78}, {'connected_gene': 'ENSG00000256361', 'score': 11.66}, {'connected_gene': 'TSG101', 'score': 10.55}, {'connected_gene': 'RNA5SP335', 'score': 0.26}, {'connected_gene': 'GC11M019401', 'score': 0.26}, {'connected_gene': 'NAV2-AS5', 'score': 0.2}, {'connected_gene': 'NAV2', 'score': 0.15}]
chr11	GH11I018595	18595014	18596163	0.56	[{'connected_gene': 'SPTY2D1', 'score': 8.59}, {'connected_gene': 'TSG101', 'score': 6.92}, {'connected_gene': 'GC11M018587', 'score': 0.77}, {'connected_gene': 'LOC100129966', 'score': 0.77}, {'connected_gene': 'SPTY2D1OS', 'score': 0.44}]
chr11	GH11I018633	18633100	18635392	2.05	[{'connected_gene': 'SPTY2D1', 'score': 589.92}, {'connected_gene': 'GC11P018635', 'score': 550.77}, {'connected_gene': 'LOC105376578', 'score': 550.77}, {'connected_gene': 'LDHC', 'score': 5.75}, {'connected_gene': 'YWHABP2', 'score': 5.62}, {'connected_gene': 'UEVLD', 'score': 5.44}, {'connected_gene': 'TSG101', 'score': 4.89}, {'connected_gene': 'ENSG00000279837', 'score': 0.29}]
chr11	GH11I018101	18101278	18101473	0.44	[{'connected_gene': 'MRGPRX3', 'score': 27.01}, {'connected_gene': 'SAAL1', 'score': 24.03}, {'connected_gene': 'HPS5', 'score': 5.46}, {'connected_gene': 'TSG101', 'score': 4.48}, {'connected_gene': 'GTF2H1', 'score': 2.68}, {'connected_gene': 'UEVLD', 'score': 1.12}, {'connected_gene': 'GC11P018102', 'score': 0.77}]
chr11	GH11I018105	18105000	18106723	2.06	[{'connected_gene': 'SAAL1', 'score': 580.49}, {'connected_gene': 'HIGD1AP5', 'score': 550.77}, {'connected_gene': 'SPTY2D1', 'score': 27.23}, {'connected_gene': 'ENSG00000256361', 'score': 20.68}, {'connected_gene': 'TSG101', 'score': 19.78}, {'connected_gene': 'GTF2H1', 'score': 15.35}, {'connected_gene': 'MRGPRX3', 'score': 13.18}, {'connected_gene': 'ENSG00000256588', 'score': 12.69}, {'connected_gene': 'LOC100129966', 'score': 12.04}, {'connected_gene': 'TPH1', 'score': 4.78}, {'connected_gene': 'GC11P018102', 'score': 0.44}]
chr11	GH11I017648	17648033	17654655	0.79	[{'connected_gene': 'LOC102723330', 'score': 19.58}, {'connected_gene': 'ENSG00000254586', 'score': 18.5}, {'connected_gene': 'SPTY2D1', 'score': 15.82}, {'connected_gene': 'MYOD1', 'score': 14.36}, {'connected_gene': 'SNORD14A', 'score': 13.09}, {'connected_gene': 'SAAL1', 'score': 12.85}, {'connected_gene': 'ENSG00000256361', 'score': 12.67}, {'connected_gene': 'ENSG00000256588', 'score': 12.67}, {'connected_gene': 'TSG101', 'score': 11.33}, {'connected_gene': 'SNORD14B', 'score': 10.77}, {'connected_gene': 'GC11M017461', 'score': 0.77}]
chr11	GH11I018489	18489354	18493979	0.77	[{'connected_gene': 'YWHABP2', 'score': 559.49}, {'connected_gene': 'TSG101', 'score': 20.81}, {'connected_gene': 'LDHC', 'score': 19.28}, {'connected_gene': 'HPS5', 'score': 10.65}, {'connected_gene': 'GTF2H1', 'score': 10.65}, {'connected_gene': 'LDHA', 'score': 10.46}, {'connected_gene': 'SPTY2D1OS', 'score': 9.92}, {'connected_gene': 'LOC100129966', 'score': 9.91}, {'connected_gene': 'SPTY2D1', 'score': 5.15}, {'connected_gene': 'ENSG00000256588', 'score': 0.37}]
chr11	GH11I018524	18524525	18524851	0.76	[{'connected_gene': 'LOC100129966', 'score': 10.66}, {'connected_gene': 'LDHA', 'score': 10.54}, {'connected_gene': 'HPS5', 'score': 10.25}, {'connected_gene': 'GTF2H1', 'score': 10.25}, {'connected_gene': 'SPTY2D1OS', 'score': 9.87}, {'connected_gene': 'LOC105376579', 'score': 9.79}, {'connected_gene': 'IGSF22', 'score': 9.78}, {'connected_gene': 'SPTY2D1', 'score': 3.65}, {'connected_gene': 'TSG101', 'score': 3.38}, {'connected_gene': 'GC11P018527', 'score': 0.77}, {'connected_gene': 'ENSG00000256361', 'score': 0.39}]