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

Promoter

Chrom	Start	End	Description
chr19	14001268	14001269	CAGE_peak_4_at_C19orf57_5end
chr19	14016823	14016834	CAGE_peak_3_at_C19orf57_5end
chr19	14016835	14016873	CAGE_peak_2_at_C19orf57_5end
chr19	14016877	14016942	CAGE_peak_1_at_C19orf57_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I013920	13920748	13921737	0.84	[{'connected_gene': 'MRI1', 'score': 11.64}, {'connected_gene': 'TRMT1', 'score': 10.38}, {'connected_gene': 'C19orf57', 'score': 0.39}, {'connected_gene': 'CC2D1A', 'score': 0.37}, {'connected_gene': 'DCAF15', 'score': 0.29}]
chr19	GH19I013936	13936168	13936337	0.52	[{'connected_gene': 'PODNL1', 'score': 0.37}, {'connected_gene': 'DCAF15', 'score': 0.37}, {'connected_gene': 'C19orf57', 'score': 0.31}]
chr19	GH19I013937	13937401	13939136	1.32	[{'connected_gene': 'PODNL1', 'score': 556.82}, {'connected_gene': 'DCAF15', 'score': 0.39}, {'connected_gene': 'C19orf57', 'score': 0.29}]
chr19	GH19I013486	13486479	13486778	0.22	[{'connected_gene': 'CACNA1A', 'score': 6.42}, {'connected_gene': 'C19orf57', 'score': 1.51}, {'connected_gene': 'PIR32691', 'score': 0.26}, {'connected_gene': 'GC19P013560', 'score': 0.19}]
chr19	GH19I013905	13905555	13907246	2.04	[{'connected_gene': 'CC2D1A', 'score': 572.56}, {'connected_gene': 'C19orf57', 'score': 550.77}, {'connected_gene': 'CCDC130', 'score': 19.21}, {'connected_gene': 'DCAF15', 'score': 13.76}, {'connected_gene': 'DDX39A', 'score': 13.23}, {'connected_gene': 'RFX1', 'score': 12.89}, {'connected_gene': 'SNRPGP15', 'score': 11.59}, {'connected_gene': 'ZNF333', 'score': 9.82}, {'connected_gene': 'TRMT1', 'score': 9.77}]
chr19	GH19I013884	13884668	13887949	1.17	[{'connected_gene': 'CC2D1A', 'score': 22.82}, {'connected_gene': 'C19orf57', 'score': 13.13}, {'connected_gene': 'PALM3', 'score': 12.96}, {'connected_gene': 'EEF1DP1', 'score': 12.8}, {'connected_gene': 'MISP3', 'score': 12.79}, {'connected_gene': 'IL27RA', 'score': 2.14}, {'connected_gene': 'CCDC130', 'score': 1.37}, {'connected_gene': 'DCAF15', 'score': 1.34}, {'connected_gene': 'GC19P013876', 'score': 0.39}]
chr19	GH19I013879	13879727	13883231	1.29	[{'connected_gene': 'CC2D1A', 'score': 35.17}, {'connected_gene': 'C19orf57', 'score': 13.13}, {'connected_gene': 'PALM3', 'score': 12.8}, {'connected_gene': 'EEF1DP1', 'score': 12.79}, {'connected_gene': 'MISP3', 'score': 12.79}, {'connected_gene': 'GC19P013876', 'score': 0.44}, {'connected_gene': 'NANOS3', 'score': 0.37}]
chr19	GH19I013883	13883808	13883897	0.52	[{'connected_gene': 'CC2D1A', 'score': 13.13}, {'connected_gene': 'C19orf57', 'score': 13.13}, {'connected_gene': 'PALM3', 'score': 12.8}, {'connected_gene': 'MISP3', 'score': 12.79}, {'connected_gene': 'EEF1DP1', 'score': 12.79}, {'connected_gene': 'GC19P013876', 'score': 0.44}]
chr19	GH19I013904	13903401	13903600	0.65	[{'connected_gene': 'CC2D1A', 'score': 0.77}, {'connected_gene': 'C19orf57', 'score': 0.77}, {'connected_gene': 'GC19P013876', 'score': 0.31}]
chr19	GH19I013903	13903248	13903397	0.66	[{'connected_gene': 'CC2D1A', 'score': 0.77}, {'connected_gene': 'C19orf57', 'score': 0.77}, {'connected_gene': 'GC19P013876', 'score': 0.31}]
chr19	GH19I013888	13888288	13888997	0.54	[{'connected_gene': 'CC2D1A', 'score': 21.99}, {'connected_gene': 'GC19P013876', 'score': 0.39}, {'connected_gene': 'C19orf57', 'score': 0.37}]
chr19	GH19I013899	13899171	13899763	0.66	[{'connected_gene': 'CC2D1A', 'score': 0.44}, {'connected_gene': 'C19orf57', 'score': 0.44}, {'connected_gene': 'GC19P013876', 'score': 0.34}]
chr19	GH19I014078	14078201	14079200	0.46	[{'connected_gene': 'NANOS3', 'score': 13.83}, {'connected_gene': 'PRKACA', 'score': 12.7}, {'connected_gene': 'MIR181D', 'score': 12.47}, {'connected_gene': 'MIR181C', 'score': 12.47}, {'connected_gene': 'C19orf57', 'score': 11.63}, {'connected_gene': 'CC2D1A', 'score': 11.63}, {'connected_gene': 'ZSWIM4', 'score': 4.55}, {'connected_gene': 'CCDC130', 'score': 3.36}, {'connected_gene': 'ADGRE5', 'score': 2.72}, {'connected_gene': 'RFX1', 'score': 2.68}, {'connected_gene': 'PKN1', 'score': 1.6}, {'connected_gene': 'DCAF15', 'score': 1.27}, {'connected_gene': 'DNAJB1', 'score': 1.2}, {'connected_gene': 'GC19M014079', 'score': 0.77}, {'connected_gene': 'MIR1199', 'score': 0.44}]
chr19	GH19I014587	14587077	14589578	0.52	[{'connected_gene': 'RN7SL842P', 'score': 550.77}, {'connected_gene': 'C19orf57', 'score': 5.24}, {'connected_gene': 'RN7SL337P', 'score': 0.77}, {'connected_gene': 'CLEC17A', 'score': 0.44}]
chr19	GH19I013934	13934208	13934377	0.54	[{'connected_gene': 'SNRPGP15', 'score': 9.82}, {'connected_gene': 'PODNL1', 'score': 0.37}, {'connected_gene': 'DCAF15', 'score': 0.37}, {'connected_gene': 'C19orf57', 'score': 0.31}]
chr19	GH19I013864	13864067	13866839	1.85	[{'connected_gene': 'SNRPGP15', 'score': 9.86}, {'connected_gene': 'ADGRL1', 'score': 6.28}, {'connected_gene': 'CACNA1A', 'score': 6.16}, {'connected_gene': 'C19orf57', 'score': 2.94}, {'connected_gene': 'ZSWIM4', 'score': 2.53}, {'connected_gene': 'RFX1', 'score': 2.28}, {'connected_gene': 'CC2D1A', 'score': 1.41}, {'connected_gene': 'NANOS3', 'score': 0.77}, {'connected_gene': 'MIR181C', 'score': 0.44}]
chr19	GH19I014163	14163692	14163959	0.46	[{'connected_gene': 'PIR54415', 'score': 550.77}, {'connected_gene': 'PRKACA', 'score': 13.28}, {'connected_gene': 'ADGRL1', 'score': 2.95}, {'connected_gene': 'C19orf57', 'score': 1.28}, {'connected_gene': 'RFX1', 'score': 1.22}, {'connected_gene': 'GC19P014171', 'score': 0.44}, {'connected_gene': 'LOC100507373', 'score': 0.31}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000588115	[[13993160, 13993765], [13996773, 13996868], [13999175, 13999193]]	[[13993614, 13993765], [13996773, 13996868], [13999175, 13999193]]
ENST00000586783	[[13993167, 13993765], [13994120, 13994213], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015705]]	[[13993614, 13993765], [13994120, 13994213], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015705]]
ENST00000454313	[[13993167, 13993765], [13994120, 13994213], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015726], [14016871, 14016909]]	[[13993614, 13993765], [13994120, 13994213], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015705]]
ENST00000346736	[[13993167, 13993765], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015726], [14016871, 14016978]]	[[13993614, 13993765], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015705]]
ENST00000591586	[[13993201, 13993765], [13994120, 13994213], [13996773, 13996868], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015726], [14016527, 14016920]]	[[13993614, 13993765], [13994120, 13994213], [13996773, 13996868], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015705]]
ENST00000586500	[[13993413, 13993765], [13994120, 13994413]]	None
ENST00000591439	[[13995747, 13995972], [13996773, 13996868], [14000000, 14000249]]	[[13995896, 13995972], [13996773, 13996868], [14000000, 14000249]]
ENST00000589393	[[13996082, 13996282], [13996773, 13996868], [14000000, 14000754]]	[[13996245, 13996282], [13996773, 13996868], [14000000, 14000754]]
ENST00000585755	[[14003992, 14004036], [14015674, 14015726], [14017001, 14017265]]	[[14003992, 14004036], [14015674, 14015705]]
NM_001345843	[[13993160, 13993765], [13994120, 13994213], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015726], [14016527, 14016978]]	[[13993614, 13993765], [13994120, 13994213], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015726], [14016527, 14016923]]
NM_001345844	[[13993160, 13993765], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015726], [14016527, 14016978]]	[[13993614, 13993765], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015726], [14016527, 14016923]]
NM_001345848	[[13993160, 13993765], [13994120, 13994213], [13996773, 13996868], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015726], [14016527, 14016978]]	[[13993614, 13993765], [13994120, 13994213], [13996773, 13996868], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015726], [14016527, 14016923]]
NM_001345846	[[13993160, 13993765], [13994120, 13994213], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14015674, 14015726], [14016527, 14016978]]	[[13993614, 13993765], [13994120, 13994213], [13996773, 13996868], [14000000, 14001275], [14003598, 14003637]]
NM_001345847	[[13993160, 13993765], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14015674, 14015726], [14016527, 14016978]]	[[13993614, 13993765], [13996773, 13996868], [14000000, 14001275], [14003598, 14003637]]
NM_024323	[[13993160, 13993765], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015726], [14016871, 14016978]]	[[13993614, 13993765], [13996773, 13996868], [14000000, 14001275], [14003598, 14003703], [14003954, 14004036], [14006184, 14006359], [14015674, 14015705]]