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
ENST00000216180	[[44319618, 44319978], [44322814, 44323047], [44324703, 44324769], [44328757, 44328967], [44330485, 44330546], [44332930, 44333152], [44335872, 44336005], [44340570, 44340675], [44342033, 44343448]]	[[44319791, 44319978], [44322814, 44323047], [44324703, 44324769], [44328757, 44328967], [44330485, 44330546], [44332930, 44333152], [44335872, 44336005], [44340570, 44340675], [44342033, 44342262]]
ENST00000406117	[[44319671, 44319978], [44322819, 44323047], [44324703, 44324769], [44328757, 44328967], [44330485, 44330546], [44332930, 44333152], [44335872, 44336005], [44340570, 44340675], [44359165, 44359276], [44360331, 44360368]]	[[44319791, 44319978], [44322819, 44322995]]
ENST00000423180	[[44319682, 44319966], [44322814, 44323047], [44324703, 44324769], [44328757, 44328967], [44330485, 44330546], [44332930, 44333152], [44335872, 44336005], [44340570, 44340675], [44342033, 44342941]]	[[44319791, 44319966], [44322814, 44323047], [44324703, 44324769], [44328757, 44328967], [44330485, 44330546], [44332930, 44333152], [44335872, 44336005], [44340570, 44340675], [44342033, 44342262]]
ENST00000478713	[[44319993, 44320214], [44322814, 44323047], [44324703, 44324769], [44328757, 44328967]]	None
ENST00000497129	[[44328886, 44328967], [44330485, 44330546], [44332930, 44333152], [44335215, 44335273]]	None
NM_025225	[[44319618, 44319978], [44322814, 44323047], [44324703, 44324769], [44328757, 44328967], [44330485, 44330546], [44332930, 44333152], [44335872, 44336005], [44340570, 44340675], [44342033, 44343448]]	[[44319791, 44319978], [44322814, 44323047], [44324703, 44324769], [44328757, 44328967], [44330485, 44330546], [44332930, 44333152], [44335872, 44336005], [44340570, 44340675], [44342033, 44342262]]

Promoter

Chrom	Start	End	Description
chr22	44319635	44319646	CAGE_peak_2_at_PNPLA3_5end
chr22	44319648	44319692	CAGE_peak_1_at_PNPLA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I043901	43901532	43903237	0.52	[{'connected_gene': 'PNPLA3', 'score': 36.85}, {'connected_gene': 'SULT4A1', 'score': 10.9}, {'connected_gene': 'EFCAB6', 'score': 10.71}, {'connected_gene': 'SHISAL1', 'score': 9.75}, {'connected_gene': 'PNPLA5', 'score': 0.39}]
chr22	GH22I043922	43922821	43927078	2.23	[{'connected_gene': 'PNPLA3', 'score': 555.98}, {'connected_gene': 'GC22M043953', 'score': 0.29}]
chr22	GH22I043897	43897624	43898407	0.49	[{'connected_gene': 'EFCAB6', 'score': 20.57}, {'connected_gene': 'PNPLA3', 'score': 12.27}, {'connected_gene': 'SULT4A1', 'score': 11.36}, {'connected_gene': 'MPPED1', 'score': 10.11}, {'connected_gene': 'PNPLA5', 'score': 0.44}]
chr22	GH22I043867	43867921	43868110	0.81	[{'connected_gene': 'EFCAB6', 'score': 19.21}, {'connected_gene': 'PNPLA5', 'score': 11.73}, {'connected_gene': 'PNPLA3', 'score': 10.94}, {'connected_gene': 'SAMM50', 'score': 10.34}, {'connected_gene': 'RPL35AP36', 'score': 10.34}, {'connected_gene': 'SHISAL1', 'score': 9.46}, {'connected_gene': 'SULT4A1', 'score': 6.42}]
chr22	GH22I043919	43919401	43919990	0.6	[{'connected_gene': 'SULT4A1', 'score': 11.65}, {'connected_gene': 'PNPLA5', 'score': 11.06}, {'connected_gene': 'SAMM50', 'score': 10.84}, {'connected_gene': 'RPL35AP36', 'score': 10.84}, {'connected_gene': 'PNPLA3', 'score': 0.77}]
chr22	GH22I043920	43920654	43922521	0.69	[{'connected_gene': 'SULT4A1', 'score': 11.65}, {'connected_gene': 'PNPLA5', 'score': 11.06}, {'connected_gene': 'SAMM50', 'score': 10.86}, {'connected_gene': 'RPL35AP36', 'score': 10.84}, {'connected_gene': 'PNPLA3', 'score': 0.77}]
chr22	GH22I043915	43915121	43916311	0.54	[{'connected_gene': 'SULT4A1', 'score': 11.66}, {'connected_gene': 'PNPLA5', 'score': 11.09}, {'connected_gene': 'SAMM50', 'score': 10.84}, {'connected_gene': 'RPL35AP36', 'score': 10.82}, {'connected_gene': 'PNPLA3', 'score': 0.44}]
chr22	GH22I043945	43945961	43946150	0.69	[{'connected_gene': 'SAMM50', 'score': 8.81}, {'connected_gene': 'GC22M043953', 'score': 0.44}, {'connected_gene': 'PNPLA3', 'score': 0.34}]
chr22	GH22I043985	43985152	43985974	0.78	[{'connected_gene': 'SAMM50', 'score': 19.3}, {'connected_gene': 'RPL35AP36', 'score': 12.25}, {'connected_gene': 'PNPLA3', 'score': 5.08}, {'connected_gene': 'PIR60090', 'score': 0.39}, {'connected_gene': 'GC22P043958', 'score': 0.31}]
chr22	GH22I043954	43954073	43957314	2.03	[{'connected_gene': 'SAMM50', 'score': 581.38}, {'connected_gene': 'GC22P043958', 'score': 550.77}, {'connected_gene': 'GC22M043953', 'score': 550.77}, {'connected_gene': 'RPL35AP36', 'score': 550.77}, {'connected_gene': 'PNPLA3', 'score': 0.29}]
chr22	GH22I043868	43868211	43869537	0.72	[{'connected_gene': 'PNPLA5', 'score': 11.73}, {'connected_gene': 'EFCAB6', 'score': 11.04}, {'connected_gene': 'PNPLA3', 'score': 10.44}, {'connected_gene': 'SHISAL1', 'score': 9.15}, {'connected_gene': 'SULT4A1', 'score': 6.42}]
chr22	GH22I044615	44615743	44618209	0.73	[{'connected_gene': 'ENSG00000273243', 'score': 26.13}, {'connected_gene': 'ENSG00000261251', 'score': 25.74}, {'connected_gene': 'RTL6', 'score': 14.63}, {'connected_gene': 'NUP50', 'score': 11.65}, {'connected_gene': 'FAM118A', 'score': 10.04}, {'connected_gene': 'PNPLA3', 'score': 4.46}, {'connected_gene': 'LINC00229', 'score': 0.44}, {'connected_gene': 'LOC105373060', 'score': 0.44}, {'connected_gene': 'LINC00207', 'score': 0.25}]