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
ENST00000442551	[[60711790, 60712005], [60712419, 60712521], [60713226, 60713346], [60714130, 60714253], [60714836, 60714961]]	[[60711912, 60712005], [60712419, 60712521], [60713226, 60713346], [60714130, 60714253], [60714836, 60714961]]
ENST00000370873	[[60711790, 60712005], [60712419, 60712482], [60713226, 60713346], [60714130, 60714253], [60714836, 60714961], [60715873, 60716000], [60718263, 60718486]]	[[60711912, 60712005], [60712419, 60712482], [60713226, 60713346], [60714130, 60714253], [60714836, 60714961], [60715873, 60716000], [60718263, 60718359]]
ENST00000484488	[[60711858, 60712005], [60712419, 60712482], [60713226, 60713346], [60714130, 60714253], [60714751, 60714961], [60715873, 60716000], [60718263, 60718496]]	None
ENST00000370861	[[60711912, 60712005], [60712419, 60712482], [60713226, 60713346], [60714130, 60714253], [60714836, 60714961], [60715873, 60716000], [60717530, 60717652]]	[[60711912, 60712005], [60712419, 60712482], [60713226, 60713346], [60714130, 60714253], [60714836, 60714961], [60715873, 60715886]]
ENST00000486193	[[60711962, 60712005], [60712419, 60712482], [60713226, 60713346], [60714130, 60714452]]	None
ENST00000370858	[[60714386, 60714961], [60715873, 60716000], [60718263, 60718486]]	[[60714734, 60714961], [60715873, 60716000], [60718263, 60718359]]
NM_002792	[[60711782, 60712005], [60712419, 60712482], [60713226, 60713346], [60714130, 60714253], [60714836, 60714961], [60715873, 60716000], [60718263, 60718514]]	[[60711912, 60712005], [60712419, 60712482], [60713226, 60713346], [60714130, 60714253], [60714836, 60714961], [60715873, 60716000], [60718263, 60718359]]

Promoter

Chrom	Start	End	Description
chr20	60718363	60718425	CAGE_peak_2_at_PSMA7_5end
chr20	60718430	60718526	CAGE_peak_1_at_PSMA7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I062041	62041760	62044161	0.89	[{'connected_gene': 'TAF4', 'score': 12.08}, {'connected_gene': 'LSM14B', 'score': 11.77}, {'connected_gene': 'SS18L1', 'score': 11.17}, {'connected_gene': 'PSMA7', 'score': 11.17}, {'connected_gene': 'CDH4', 'score': 8.07}, {'connected_gene': 'RPL17P48', 'score': 0.77}, {'connected_gene': 'MIR3195', 'score': 0.34}]
chr5	GH05I041212	41212250	41214899	1.18	[{'connected_gene': 'C6', 'score': 554.51}, {'connected_gene': 'C5orf51', 'score': 4.68}, {'connected_gene': 'GC05P041223', 'score': 0.39}, {'connected_gene': 'LOC105374739', 'score': 0.11}]
chr5	GH05I041083	41083972	41084229	0.24	[{'connected_gene': 'C6', 'score': 4.56}, {'connected_gene': 'LOC105374739', 'score': 0.39}, {'connected_gene': 'GC05P041223', 'score': 0.12}]
chr5	GH05I041261	41261459	41261518	0.5	[{'connected_gene': 'C6', 'score': 550.77}, {'connected_gene': 'LOC102723740', 'score': 0.29}, {'connected_gene': 'GC05P041223', 'score': 0.28}]
chr5	GH05I041232	41232554	41232613	0.5	[{'connected_gene': 'C6', 'score': 554.44}, {'connected_gene': 'GC05M041225', 'score': 0.44}, {'connected_gene': 'GC05P041223', 'score': 0.44}]
chr20	GH20I062352	62352563	62371667	2.81	[{'connected_gene': 'LAMA5', 'score': 580.43}, {'connected_gene': 'LAMA5-AS1', 'score': 24.46}, {'connected_gene': 'ARFGAP1', 'score': 15.55}, {'connected_gene': 'YTHDF1', 'score': 12.39}, {'connected_gene': 'MTG2', 'score': 8.95}, {'connected_gene': 'CABLES2', 'score': 8.74}, {'connected_gene': 'OSBPL2', 'score': 8.56}, {'connected_gene': 'BHLHE23', 'score': 5.94}, {'connected_gene': 'MRGBP', 'score': 3.35}, {'connected_gene': 'ADRM1', 'score': 3.31}, {'connected_gene': 'RPS21', 'score': 2.12}, {'connected_gene': 'RBBP8NL', 'score': 1.96}, {'connected_gene': 'PSMA7', 'score': 1.85}, {'connected_gene': 'SLCO4A1', 'score': 1.82}, {'connected_gene': 'NTSR1', 'score': 1.47}, {'connected_gene': 'SS18L1', 'score': 1.19}, {'connected_gene': 'TAF4', 'score': 1.12}]
chr5	GH05I041263	41263090	41264964	0.52	[{'connected_gene': 'C7', 'score': 7.07}, {'connected_gene': 'PLCXD3', 'score': 6.62}, {'connected_gene': 'C6', 'score': 0.77}, {'connected_gene': 'LOC102723740', 'score': 0.29}, {'connected_gene': 'GC05P041223', 'score': 0.26}]
chr20	GH20I062140	62140740	62145070	2.56	[{'connected_gene': 'SS18L1', 'score': 563.59}, {'connected_gene': 'PIR42263', 'score': 550.77}, {'connected_gene': 'PSMA7', 'score': 550.77}, {'connected_gene': 'MRGBP', 'score': 20.44}, {'connected_gene': 'TAF4', 'score': 15.52}, {'connected_gene': 'DIDO1', 'score': 10.53}, {'connected_gene': 'ADRM1', 'score': 10.13}, {'connected_gene': 'MTG2', 'score': 8.67}]
chr20	GH20I062186	62186802	62188174	0.76	[{'connected_gene': 'SS18L1', 'score': 11.97}, {'connected_gene': 'PSMA7', 'score': 11.97}, {'connected_gene': 'HRH3', 'score': 11.68}, {'connected_gene': 'MTG2', 'score': 6.78}, {'connected_gene': 'PIR52239', 'score': 0.39}]
chr20	GH20I062010	62010945	62011114	0.82	[{'connected_gene': 'SS18L1', 'score': 12.11}, {'connected_gene': 'PSMA7', 'score': 12.11}, {'connected_gene': 'HRH3', 'score': 10.61}, {'connected_gene': 'CDH4', 'score': 5.75}, {'connected_gene': 'LOC105372704', 'score': 0.44}, {'connected_gene': 'GC20M062040', 'score': 0.31}, {'connected_gene': 'TAF4', 'score': 0.23}]
chr20	GH20I062018	62018932	62020333	0.38	[{'connected_gene': 'SS18L1', 'score': 12.26}, {'connected_gene': 'PSMA7', 'score': 12.26}, {'connected_gene': 'LOC105372704', 'score': 0.37}, {'connected_gene': 'GC20M062040', 'score': 0.37}, {'connected_gene': 'TAF4', 'score': 0.25}]
chr20	GH20I062014	62014325	62014474	0.2	[{'connected_gene': 'SS18L1', 'score': 12.26}, {'connected_gene': 'PSMA7', 'score': 12.26}, {'connected_gene': 'LOC105372704', 'score': 0.39}, {'connected_gene': 'GC20M062040', 'score': 0.34}, {'connected_gene': 'TAF4', 'score': 0.23}]
chr5	GH05I041246	41246109	41246657	0.46	[{'connected_gene': 'MROH2B', 'score': 9.79}, {'connected_gene': 'C6', 'score': 0.37}, {'connected_gene': 'GC05M041225', 'score': 0.37}, {'connected_gene': 'GC05P041223', 'score': 0.34}]
chr20	GH20I062003	62003145	62003294	0.64	[{'connected_gene': 'LOC105372704', 'score': 550.77}, {'connected_gene': 'SS18L1', 'score': 11.81}, {'connected_gene': 'PSMA7', 'score': 11.81}, {'connected_gene': 'MIR1257', 'score': 10.86}, {'connected_gene': 'GC20P061972', 'score': 0.29}, {'connected_gene': 'GC20M062040', 'score': 0.29}, {'connected_gene': 'TAF4', 'score': 0.21}]
chr5	GH05I040967	40967837	40968092	0.35	[{'connected_gene': 'ENSG00000248120', 'score': 550.77}, {'connected_gene': 'C6', 'score': 6.34}, {'connected_gene': 'MROH2B', 'score': 5.6}, {'connected_gene': 'C7', 'score': 2.24}]
chr5	GH05I041218	41218565	41220529	0.2	[{'connected_gene': 'GC05P041223', 'score': 0.77}, {'connected_gene': 'C6', 'score': 0.26}, {'connected_gene': 'LOC105374739', 'score': 0.11}]
chr5	GH05I041193	41193899	41194048	0.7	[{'connected_gene': 'GC05P041223', 'score': 0.31}, {'connected_gene': 'C6', 'score': 0.2}, {'connected_gene': 'LOC105374739', 'score': 0.13}]
chr5	GH05I041181	41181469	41184077	0.62	[{'connected_gene': 'GC05P041223', 'score': 0.26}, {'connected_gene': 'C6', 'score': 0.18}, {'connected_gene': 'LOC105374739', 'score': 0.14}]
chr20	GH20I062138	62138939	62139319	0.31	[{'connected_gene': 'PIR60158', 'score': 550.77}, {'connected_gene': 'GC20M062135', 'score': 0.77}, {'connected_gene': 'PSMA7', 'score': 0.77}]
chr20	GH20I062136	62136905	62137114	0.99	[{'connected_gene': 'GC20M062135', 'score': 550.77}, {'connected_gene': 'PIR60158', 'score': 0.77}, {'connected_gene': 'PSMA7', 'score': 0.44}]
chr20	GH20I062201	62201230	62202314	0.38	[{'connected_gene': 'PIR52239', 'score': 550.77}, {'connected_gene': 'MTG2', 'score': 23.33}, {'connected_gene': 'SS18L1', 'score': 11.31}, {'connected_gene': 'PSMA7', 'score': 11.31}, {'connected_gene': 'ENSG00000226332', 'score': 11.1}, {'connected_gene': 'ADRM1', 'score': 11.1}, {'connected_gene': 'LAMA5', 'score': 11.05}, {'connected_gene': 'OSBPL2', 'score': 9.57}, {'connected_gene': 'HRH3', 'score': 0.37}]