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
ENST00000225275	[[56347216, 56348224], [56349015, 56349253], [56350108, 56350279], [56350774, 56351030], [56352902, 56353063], [56355187, 56355506], [56356368, 56356575], [56356657, 56356787], [56356883, 56357007], [56357199, 56357375], [56357726, 56357820], [56357965, 56358296]]	[[56348016, 56348224], [56349015, 56349253], [56350108, 56350279], [56350774, 56351030], [56352902, 56353063], [56355187, 56355506], [56356368, 56356575], [56356657, 56356787], [56356883, 56357007], [56357199, 56357375], [56357726, 56357820], [56357965, 56358119]]
ENST00000340482	[[56347216, 56348224], [56349015, 56349253], [56350108, 56350279], [56350774, 56351030], [56352902, 56353063], [56355187, 56355506], [56356368, 56356575], [56356657, 56357007], [56357199, 56357375], [56357726, 56357820], [56357965, 56358296]]	[[56348016, 56348224], [56349015, 56349253], [56350108, 56350279], [56350774, 56351030], [56352902, 56353063], [56355187, 56355506], [56356368, 56356575], [56356657, 56357007], [56357199, 56357375], [56357726, 56357820], [56357965, 56358119]]
ENST00000577220	[[56348089, 56348166], [56350175, 56350279], [56350774, 56350853]]	[[56348089, 56348166], [56350175, 56350279], [56350774, 56350853]]
ENST00000578493	[[56352931, 56353063], [56355129, 56355480]]	None
ENST00000581022	[[56356197, 56356575], [56356657, 56356760]]	None
ENST00000580005	[[56357236, 56357375], [56357644, 56357820], [56357965, 56358048]]	None
NM_000250	[[56347216, 56348224], [56349015, 56349253], [56350108, 56350279], [56350774, 56351030], [56352902, 56353063], [56355187, 56355506], [56356368, 56356575], [56356657, 56356787], [56356883, 56357007], [56357199, 56357375], [56357726, 56357820], [56357965, 56358296]]	[[56348016, 56348224], [56349015, 56349253], [56350108, 56350279], [56350774, 56351030], [56352902, 56353063], [56355187, 56355506], [56356368, 56356575], [56356657, 56356787], [56356883, 56357007], [56357199, 56357375], [56357726, 56357820], [56357965, 56358119]]

Promoter

Chrom	Start	End	Description
chr17	56358047	56358058	CAGE_peak_3_at_MPO_5end
chr17	56358092	56358104	CAGE_peak_2_at_MPO_5end
chr17	56358287	56358302	CAGE_peak_1_at_MPO_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I058287	58287801	58291400	1	[{'connected_gene': 'TSPOAP1', 'score': 20.69}, {'connected_gene': 'SUPT4H1', 'score': 15.64}, {'connected_gene': 'LPO', 'score': 10.71}, {'connected_gene': 'HSF5', 'score': 10.69}, {'connected_gene': 'RNF43', 'score': 10.65}, {'connected_gene': 'MPO', 'score': 0.44}, {'connected_gene': 'GC17P058303', 'score': 0.39}]
chr17	GH17I058327	58327280	58348034	2.63	[{'connected_gene': 'TSPOAP1', 'score': 565.91}, {'connected_gene': 'MIR4736', 'score': 550.77}, {'connected_gene': 'SRSF1', 'score': 52.05}, {'connected_gene': 'MKS1', 'score': 28.81}, {'connected_gene': 'SUPT4H1', 'score': 22.33}, {'connected_gene': 'VEZF1', 'score': 21.83}, {'connected_gene': 'TRIM37', 'score': 15.01}, {'connected_gene': 'DYNLL2', 'score': 5.1}, {'connected_gene': 'TEX14', 'score': 4.62}, {'connected_gene': 'MTMR4', 'score': 3.94}, {'connected_gene': 'MPO', 'score': 3.52}, {'connected_gene': 'RAD51C', 'score': 1.76}, {'connected_gene': 'HSF5', 'score': 1.51}, {'connected_gene': 'OR4D2', 'score': 1.44}, {'connected_gene': 'MIR142', 'score': 0.44}, {'connected_gene': 'ENSG00000265206', 'score': 0.44}, {'connected_gene': 'TSPOAP1-AS1', 'score': 0.39}]
chr17	GH17I058232	58232152	58233904	1.29	[{'connected_gene': 'EPX', 'score': 5.36}, {'connected_gene': 'SUPT4H1', 'score': 1.36}, {'connected_gene': 'LPO', 'score': 0.39}, {'connected_gene': 'LOC105371841', 'score': 0.39}, {'connected_gene': 'MPO', 'score': 0.23}]
chr17	GH17I058277	58277401	58280400	0.89	[{'connected_gene': 'EPX', 'score': 5.11}, {'connected_gene': 'MPO', 'score': 0.44}, {'connected_gene': 'LOC105371841', 'score': 0.22}]
chr17	GH17I058249	58249335	58250310	1.43	[{'connected_gene': 'MKS1', 'score': 11.43}, {'connected_gene': 'EPX', 'score': 10.45}, {'connected_gene': 'LOC105371841', 'score': 0.31}, {'connected_gene': 'LPO', 'score': 0.29}, {'connected_gene': 'MPO', 'score': 0.29}]
chr17	GH17I058244	58244952	58247220	0.54	[{'connected_gene': 'MKS1', 'score': 5.8}, {'connected_gene': 'LPO', 'score': 0.31}, {'connected_gene': 'LOC105371841', 'score': 0.31}, {'connected_gene': 'MPO', 'score': 0.28}]
chr17	GH17I058284	58284175	58285400	1.12	[{'connected_gene': 'MPO', 'score': 561.7}, {'connected_gene': 'TSPOAP1', 'score': 19.34}, {'connected_gene': 'MKS1', 'score': 10.94}, {'connected_gene': 'LPO', 'score': 10.74}, {'connected_gene': 'RNF43', 'score': 10.49}, {'connected_gene': 'SUPT4H1', 'score': 10.48}, {'connected_gene': 'SRSF1', 'score': 2.23}, {'connected_gene': 'GC17P058303', 'score': 0.37}]
chr17	GH17I058281	58281500	58282099	0.77	[{'connected_gene': 'MPO', 'score': 26.39}, {'connected_gene': 'TSPOAP1', 'score': 7.74}, {'connected_gene': 'LOC105371841', 'score': 0.21}]
chr17	GH17I058280	58280925	58280984	0.68	[{'connected_gene': 'MPO', 'score': 550.77}, {'connected_gene': 'LOC105371841', 'score': 0.21}]
chr17	GH17I058273	58273201	58273600	0.63	[{'connected_gene': 'MPO', 'score': 0.39}, {'connected_gene': 'LOC105371841', 'score': 0.23}]
chr17	GH17I057573	57573207	57574995	0.59	[{'connected_gene': 'MPO', 'score': 4.86}, {'connected_gene': 'LOC101927539', 'score': 0.29}, {'connected_gene': 'ENSG00000280028', 'score': 0.26}, {'connected_gene': 'MSI2', 'score': 0.06}]
chr17	GH17I058242	58242096	58242155	0.5	[{'connected_gene': 'LPO', 'score': 550.34}, {'connected_gene': 'LOC105371841', 'score': 0.34}, {'connected_gene': 'MPO', 'score': 0.26}]