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
ENST00000570827	[[9548014, 9548659], [9559719, 9559851], [9569964, 9570068], [9578207, 9578300], [9580062, 9580198], [9583547, 9583683], [9586139, 9586275], [9590114, 9590226], [9596443, 9596547], [9603488, 9603566], [9604435, 9604562], [9604668, 9605017], [9613272, 9613431], [9615284, 9615449], [9631270, 9632418]]	None
ENST00000570475	[[9548853, 9549453], [9559719, 9559851], [9569964, 9570068], [9578207, 9578300], [9580062, 9580198], [9583547, 9583683], [9586139, 9586275], [9590114, 9590226], [9596443, 9596547], [9603488, 9603566], [9604435, 9604562], [9604668, 9605002], [9613272, 9613431], [9615284, 9615449], [9631270, 9632354]]	[[9548949, 9549453], [9559719, 9559851], [9569964, 9570068], [9578207, 9578300], [9580062, 9580198], [9583547, 9583683], [9586139, 9586275], [9590114, 9590226], [9596443, 9596547], [9603488, 9603566], [9604435, 9604562], [9604668, 9605002], [9613272, 9613431], [9615284, 9615449], [9631270, 9632307]]
ENST00000285199	[[9548853, 9549453], [9559719, 9559851], [9569964, 9570068], [9578207, 9578300], [9580062, 9580198], [9583547, 9583683], [9586139, 9586275], [9590114, 9590226], [9596443, 9596547], [9603488, 9603566], [9604435, 9604562], [9604668, 9605017], [9613272, 9613431], [9615284, 9615449], [9631270, 9633008]]	[[9548949, 9549453], [9559719, 9559851], [9569964, 9570068], [9578207, 9578300], [9580062, 9580198], [9583547, 9583683], [9586139, 9586275], [9590114, 9590226], [9596443, 9596547], [9603488, 9603566], [9604435, 9604562], [9604668, 9605017], [9613272, 9613431], [9615284, 9615449], [9631270, 9632307]]
ENST00000574408	[[9559752, 9559851], [9578207, 9578300], [9580062, 9580198], [9583547, 9583683], [9586139, 9586275], [9590114, 9590226], [9596443, 9596547], [9603488, 9603566], [9604435, 9604562], [9604668, 9605017], [9613272, 9613431], [9615284, 9615449], [9631270, 9633001]]	[[9559752, 9559851], [9578207, 9578300], [9580062, 9580198], [9583547, 9583683], [9586139, 9586275], [9590114, 9590226], [9596443, 9596547], [9603488, 9603566], [9604435, 9604562], [9604668, 9605017], [9613272, 9613431], [9615284, 9615449], [9631270, 9632307]]
ENST00000575346	[[9573022, 9573166], [9578207, 9578300], [9580062, 9580198], [9583547, 9583683], [9586139, 9586275], [9590114, 9590180]]	None
ENST00000573955	[[9604431, 9605017], [9613272, 9613431], [9615284, 9615449], [9631270, 9633001]]	[[9604431, 9605017], [9613272, 9613431], [9615284, 9615449], [9631270, 9632307]]
NM_001267576	[[9548853, 9549453], [9559719, 9559851], [9569964, 9570068], [9578207, 9578300], [9580062, 9580198], [9583547, 9583683], [9586139, 9586275], [9590114, 9590226], [9596443, 9596547], [9603488, 9603566], [9604435, 9604562], [9604668, 9605002], [9613272, 9613431], [9615284, 9615449], [9631270, 9633004]]	[[9548949, 9549453], [9559719, 9559851], [9569964, 9570068], [9578207, 9578300], [9580062, 9580198], [9583547, 9583683], [9586139, 9586275], [9590114, 9590226], [9596443, 9596547], [9603488, 9603566], [9604435, 9604562], [9604668, 9605002], [9613272, 9613431], [9615284, 9615449], [9631270, 9632307]]
NM_153210	[[9548853, 9549453], [9559719, 9559851], [9569964, 9570068], [9578207, 9578300], [9580062, 9580198], [9583547, 9583683], [9586139, 9586275], [9590114, 9590226], [9596443, 9596547], [9603488, 9603566], [9604435, 9604562], [9604668, 9605017], [9613272, 9613431], [9615284, 9615449], [9631270, 9633004]]	[[9548949, 9549453], [9559719, 9559851], [9569964, 9570068], [9578207, 9578300], [9580062, 9580198], [9583547, 9583683], [9586139, 9586275], [9590114, 9590226], [9596443, 9596547], [9603488, 9603566], [9604435, 9604562], [9604668, 9605017], [9613272, 9613431], [9615284, 9615449], [9631270, 9632307]]

Promoter

Chrom	Start	End	Description
chr17	9548820	9548840	CAGE_peak_2_at_USP43_5end
chr17	9548845	9548884	CAGE_peak_1_at_USP43_5end
chr17	9549018	9549049	CAGE_peak_4_at_USP43_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I009754	9754399	9756743	0.38	[{'connected_gene': 'DHRS7C', 'score': 11.67}, {'connected_gene': 'ENSG00000261433', 'score': 11.19}, {'connected_gene': 'MAGOH2P', 'score': 10.92}, {'connected_gene': 'USP43', 'score': 10.42}, {'connected_gene': 'ADPRM', 'score': 10.2}, {'connected_gene': 'ENSG00000282882', 'score': 0.44}, {'connected_gene': 'GC17M009711', 'score': 0.39}]
chr17	GH17I009676	9676359	9678277	0.67	[{'connected_gene': 'USP43', 'score': 11.3}, {'connected_gene': 'STX8', 'score': 11.24}, {'connected_gene': 'CFAP52', 'score': 11.24}, {'connected_gene': 'GC17P009688', 'score': 0.39}, {'connected_gene': 'ENSG00000262296', 'score': 0.31}]
chr17	GH17I009670	9670977	9673546	0.65	[{'connected_gene': 'USP43', 'score': 17.83}, {'connected_gene': 'GC17P009688', 'score': 0.37}, {'connected_gene': 'ENSG00000262296', 'score': 0.34}]
chr17	GH17I009667	9667881	9669273	0.31	[{'connected_gene': 'USP43', 'score': 12.26}, {'connected_gene': 'GC17P009688', 'score': 0.37}, {'connected_gene': 'ENSG00000262296', 'score': 0.34}]
chr17	GH17I009669	9669397	9669950	0.31	[{'connected_gene': 'USP43', 'score': 12.26}, {'connected_gene': 'GC17P009688', 'score': 0.37}, {'connected_gene': 'ENSG00000262296', 'score': 0.34}]
chr17	GH17I009684	9684544	9685765	0.69	[{'connected_gene': 'USP43', 'score': 23.81}, {'connected_gene': 'GC17P009688', 'score': 0.77}, {'connected_gene': 'ENSG00000262296', 'score': 0.28}]
chr17	GH17I009761	9761897	9770019	0.76	[{'connected_gene': 'ENSG00000282882', 'score': 550.77}, {'connected_gene': 'ENSG00000261433', 'score': 14.45}, {'connected_gene': 'DHRS7C', 'score': 12.12}, {'connected_gene': 'MAGOH2P', 'score': 11.93}, {'connected_gene': 'USP43', 'score': 10.18}, {'connected_gene': 'ADPRM', 'score': 10.0}, {'connected_gene': 'GC17M009779', 'score': 0.39}]
chr17	GH17I009643	9643837	9649696	2.22	[{'connected_gene': 'ENSG00000262296', 'score': 550.77}, {'connected_gene': 'ENSG00000265349', 'score': 550.77}, {'connected_gene': 'USP43', 'score': 550.77}, {'connected_gene': 'STX8', 'score': 10.63}, {'connected_gene': 'CFAP52', 'score': 10.63}]
chr17	GH17I009565	9565624	9566654	0.85	[{'connected_gene': 'ENSG00000271851', 'score': 13.63}, {'connected_gene': 'USP43', 'score': 10.53}, {'connected_gene': 'STX8', 'score': 0.39}]