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
ENST00000331849	[[20420855, 20420987], [20422791, 20423010], [20429380, 20429591], [20430549, 20430757], [20432579, 20432723], [20435237, 20435391], [20439109, 20439189], [20440999, 20441123], [20442314, 20442395], [20442541, 20442643], [20448373, 20448501], [20448589, 20448689], [20451121, 20451241], [20451665, 20452658]]	[[20422806, 20423010], [20429380, 20429591], [20430549, 20430757], [20432579, 20432723], [20435237, 20435391], [20439109, 20439189], [20440999, 20441123], [20442314, 20442395], [20442541, 20442643], [20448373, 20448501], [20448589, 20448689], [20451121, 20451241], [20451665, 20451749]]
ENST00000577024	[[20442364, 20442395], [20442541, 20442643], [20448373, 20448689], [20451121, 20451241]]	None
ENST00000575584	[[20420855, 20420987], [20422791, 20423010], [20429380, 20429591], [20430549, 20431117]]	[[20422806, 20423010], [20429380, 20429591], [20430549, 20430761]]
ENST00000575070	[[20420867, 20420987], [20422791, 20423527]]	None
ENST00000570305	[[20432377, 20432723], [20435237, 20435391], [20439109, 20439189], [20440999, 20441123], [20442314, 20442381]]	None
ENST00000574748	[[20432498, 20432723], [20439109, 20439189], [20440999, 20441123], [20442314, 20442365]]	None
ENST00000573920	[[20432595, 20432723], [20435237, 20435391], [20440999, 20441123], [20442314, 20442365]]	[[20432595, 20432723], [20435237, 20435391], [20440999, 20441056]]
NM_017888	[[20420855, 20420987], [20422791, 20423010], [20429380, 20429591], [20430549, 20430757], [20432579, 20432723], [20435237, 20435391], [20439109, 20439189], [20440999, 20441123], [20442314, 20442395], [20442541, 20442643], [20448373, 20448501], [20448589, 20448689], [20451121, 20451241], [20451665, 20452290]]	[[20422806, 20423010], [20429380, 20429591], [20430549, 20430757], [20432579, 20432723], [20435237, 20435391], [20439109, 20439189], [20440999, 20441123], [20442314, 20442395], [20442541, 20442643], [20448373, 20448501], [20448589, 20448689], [20451121, 20451241], [20451665, 20451749]]
NM_001324371	[[20420855, 20420987], [20422795, 20423010], [20429380, 20429591], [20430549, 20430757], [20432579, 20432723], [20435237, 20435391], [20439109, 20439189], [20440999, 20441123], [20442314, 20442395], [20442541, 20442643], [20448373, 20448501], [20448589, 20448689], [20451121, 20451241], [20451665, 20452655]]	[[20422806, 20423010], [20429380, 20429591], [20430549, 20430757], [20432579, 20432723], [20435237, 20435391], [20439109, 20439189], [20440999, 20441123], [20442314, 20442395], [20442541, 20442643], [20448373, 20448501], [20448589, 20448689], [20451121, 20451241], [20451665, 20451749]]
NM_001324372	[[20420855, 20420987], [20422791, 20423010], [20429380, 20429591], [20430549, 20430757], [20432579, 20432723], [20435237, 20435391], [20439109, 20439189], [20440999, 20441123], [20442314, 20442395], [20442541, 20442643], [20448373, 20448501], [20448589, 20448689], [20451121, 20451241], [20451681, 20452655]]	[[20422806, 20423010], [20429380, 20429591], [20430549, 20430757], [20432579, 20432723], [20435237, 20435391], [20439109, 20439189], [20440999, 20441123], [20442314, 20442395], [20442541, 20442643], [20448373, 20448501], [20448589, 20448689], [20451121, 20451241], [20451681, 20451774]]
NM_001324373	[[20420855, 20420987], [20422791, 20423010], [20429380, 20429591], [20430549, 20431097]]	[[20422806, 20423010], [20429380, 20429591], [20430549, 20430761]]

Promoter

Chrom	Start	End	Description
chr16	20420849	20420867	CAGE_peak_1_at_ACSM5_5end
chr16	20420880	20420898	CAGE_peak_2_at_ACSM5_5end
chr16	20420912	20420924	CAGE_peak_3_at_ACSM5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr16	GH16I021162	21162640	21163611	0.38	[{'connected_gene': 'ACSM5', 'score': 4.06}, {'connected_gene': 'TMEM159', 'score': 0.77}, {'connected_gene': 'GC16P021165', 'score': 0.77}, {'connected_gene': 'DNAH3', 'score': 0.77}]
chr16	GH16I020426	20426134	20427268	0.85	[{'connected_gene': 'ACSM5', 'score': 10.36}, {'connected_gene': 'PDILT', 'score': 5.83}, {'connected_gene': 'PIR37559', 'score': 0.77}]
chr16	GH16I020515	20515091	20517258	0.78	[{'connected_gene': 'ACSM5', 'score': 8.31}, {'connected_gene': 'ERI2', 'score': 4.91}, {'connected_gene': 'ENSG00000280306', 'score': 0.31}, {'connected_gene': 'ACSM2B', 'score': 0.21}]
chr16	GH16I020439	20439201	20440880	0.63	[{'connected_gene': 'ACSM5', 'score': 31.81}, {'connected_gene': 'PIR37559', 'score': 0.44}, {'connected_gene': 'LOC105371119', 'score': 0.44}]
chr16	GH16I020424	20424145	20425203	0.88	[{'connected_gene': 'ACSM5', 'score': 21.03}, {'connected_gene': 'PIR37559', 'score': 0.44}]
chr16	GH16I020408	20408899	20410644	1.49	[{'connected_gene': 'ACSM5', 'score': 576.34}, {'connected_gene': 'PIR37559', 'score': 0.34}]
chr16	GH16I019577	19577739	19579893	0.58	[{'connected_gene': 'KNOP1', 'score': 10.14}, {'connected_gene': 'CCP110', 'score': 9.25}, {'connected_gene': 'ACSM5', 'score': 4.77}, {'connected_gene': 'C16orf62', 'score': 0.34}, {'connected_gene': 'GC16M019688', 'score': 0.14}, {'connected_gene': 'GC16M019687', 'score': 0.14}]
chr16	GH16I019804	19804077	19810400	0.99	[{'connected_gene': 'KNOP1', 'score': 44.19}, {'connected_gene': 'THUMPD1', 'score': 22.62}, {'connected_gene': 'SMG1', 'score': 10.34}, {'connected_gene': 'ACSM5', 'score': 4.65}, {'connected_gene': 'LARP7P2', 'score': 0.39}, {'connected_gene': 'LOC105371115', 'score': 0.26}, {'connected_gene': 'IQCK', 'score': 0.16}]
chr16	GH16I019850	19850010	19852646	0.46	[{'connected_gene': 'KNOP1', 'score': 7.02}, {'connected_gene': 'ACSM5', 'score': 4.83}, {'connected_gene': 'LARP7P2', 'score': 0.29}, {'connected_gene': 'GPRC5B', 'score': 0.29}, {'connected_gene': 'IQCK', 'score': 0.12}]
chr16	GH16I019855	19855474	19857401	0.43	[{'connected_gene': 'KNOP1', 'score': 25.65}, {'connected_gene': 'GPRC5B', 'score': 12.4}, {'connected_gene': 'C16orf62', 'score': 11.02}, {'connected_gene': 'ACSM5', 'score': 4.83}, {'connected_gene': 'LARP7P2', 'score': 0.28}, {'connected_gene': 'IQCK', 'score': 0.12}]
chr16	GH16I019859	19859185	19862892	0.97	[{'connected_gene': 'KNOP1', 'score': 28.98}, {'connected_gene': 'GPRC5B', 'score': 12.4}, {'connected_gene': 'C16orf62', 'score': 11.02}, {'connected_gene': 'ACSM5', 'score': 4.57}, {'connected_gene': 'LARP7P2', 'score': 0.26}]
chr16	GH16I020404	20404727	20404786	0.5	[{'connected_gene': 'PDILT', 'score': 550.77}, {'connected_gene': 'ACSM5', 'score': 0.77}]
chr16	GH16I020587	20587141	20588618	0.63	[{'connected_gene': 'GC16P020588', 'score': 550.77}, {'connected_gene': 'ACSM1', 'score': 13.84}, {'connected_gene': 'ACSM5', 'score': 4.77}, {'connected_gene': 'REXO5', 'score': 4.77}, {'connected_gene': 'LOC105371120', 'score': 0.44}, {'connected_gene': 'ACSM5P1', 'score': 0.37}]