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
ENST00000226067	[[53342372, 53342960], [53345111, 53345447], [53392587, 53392808], [53398024, 53402426]]	[[53342845, 53342960], [53345111, 53345447], [53392587, 53392808], [53398024, 53398240]]
ENST00000430986	[[53343170, 53343247], [53345111, 53345447], [53392587, 53392808], [53398024, 53398775]]	[[53345251, 53345447], [53392587, 53392808], [53398024, 53398240]]
ENST00000573945	[[53343582, 53343676], [53345111, 53345447], [53392587, 53392808], [53398024, 53400350]]	[[53345251, 53345447], [53392587, 53392808], [53398024, 53398240]]
ENST00000575345	[[53344951, 53345447], [53392587, 53392808], [53398024, 53400896]]	[[53345251, 53345447], [53392587, 53392808], [53398024, 53398240]]
ENST00000570962	[[53344975, 53345447], [53392592, 53392808], [53398024, 53398646]]	[[53345251, 53345447], [53392592, 53392630]]
ENST00000572002	[[53345176, 53345447], [53392587, 53392808], [53398021, 53398780]]	[[53345176, 53345447], [53392587, 53392808], [53398021, 53398240]]
ENST00000573020	[[53360842, 53361058], [53392587, 53392785]]	None
ENST00000572234	[[53360856, 53361058], [53361372, 53361418], [53366241, 53366291]]	None
ENST00000573422	[[53361060, 53361138], [53392587, 53392808], [53398024, 53398218]]	None
ENST00000575868	[[53361080, 53361314], [53366241, 53366344], [53392587, 53392808], [53398024, 53398027]]	None
ENST00000575307	[[53396313, 53396415], [53398024, 53398504]]	None
NM_002126	[[53342320, 53342960], [53345111, 53345447], [53392587, 53392808], [53398024, 53402426]]	[[53342845, 53342960], [53345111, 53345447], [53392587, 53392808], [53398024, 53398240]]
NM_001330375	[[53343582, 53343676], [53345111, 53345447], [53392587, 53392808], [53398024, 53402537]]	[[53345251, 53345447], [53392587, 53392808], [53398024, 53398240]]

Promoter

Chrom	Start	End	Description
chr17	53342311	53342400	CAGE_peak_1_at_HLF_5end
chr17	53342451	53342471	CAGE_peak_4_at_HLF_5end
chr17	53342529	53342536	CAGE_peak_6_at_HLF_5end
chr17	53343202	53343207	CAGE_peak_9_at_HLF_5end
chr17	53344945	53344977	CAGE_peak_2_at_HLF_5end
chr17	53344980	53345011	CAGE_peak_3_at_HLF_5end
chr17	53345080	53345091	CAGE_peak_8_at_HLF_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr17	GH17I055350	55350340	55351371	0.7	[{'connected_gene': 'HLF', 'score': 11.07}, {'connected_gene': 'STXBP4', 'score': 10.45}, {'connected_gene': 'MMD', 'score': 10.34}, {'connected_gene': 'ENSG00000262079', 'score': 0.34}, {'connected_gene': 'GC17P055380', 'score': 0.29}]
chr17	GH17I055197	55197287	55199780	0.66	[{'connected_gene': 'HLF', 'score': 10.99}, {'connected_gene': 'STXBP4', 'score': 4.95}, {'connected_gene': 'GC17P055167', 'score': 0.29}, {'connected_gene': 'GC17M055237', 'score': 0.26}]
chr17	GH17I055281	55281794	55288568	2.08	[{'connected_gene': 'HLF', 'score': 22.31}, {'connected_gene': 'ENSG00000263096', 'score': 8.69}, {'connected_gene': 'MMD', 'score': 3.28}, {'connected_gene': 'COX11', 'score': 3.05}, {'connected_gene': 'STXBP4', 'score': 1.79}, {'connected_gene': 'GC17P055297', 'score': 0.39}]
chr17	GH17I055343	55343226	55345703	0.93	[{'connected_gene': 'HLF', 'score': 11.09}, {'connected_gene': 'MMD', 'score': 10.33}, {'connected_gene': 'ENSG00000262079', 'score': 0.37}, {'connected_gene': 'GC17P055380', 'score': 0.28}]
chr17	GH17I055348	55348860	55349009	0.83	[{'connected_gene': 'HLF', 'score': 11.08}, {'connected_gene': 'MMD', 'score': 10.34}, {'connected_gene': 'ENSG00000262079', 'score': 0.34}, {'connected_gene': 'GC17P055380', 'score': 0.29}]
chr17	GH17I055237	55237092	55239400	1.51	[{'connected_gene': 'HLF', 'score': 15.07}, {'connected_gene': 'GC17M055237', 'score': 0.77}, {'connected_gene': 'GC17P055167', 'score': 0.19}]
chr17	GH17I055288	55288861	55289660	0.31	[{'connected_gene': 'HLF', 'score': 19.13}, {'connected_gene': 'ENSG00000263096', 'score': 6.85}, {'connected_gene': 'GC17P055297', 'score': 0.44}]
chr17	GH17I055303	55303340	55306286	1.12	[{'connected_gene': 'HLF', 'score': 16.07}, {'connected_gene': 'ENSG00000263096', 'score': 6.01}, {'connected_gene': 'GC17M055299', 'score': 0.77}, {'connected_gene': 'GC17M055312', 'score': 0.44}]
chr17	GH17I055294	55294401	55294900	0.58	[{'connected_gene': 'HLF', 'score': 16.94}, {'connected_gene': 'GC17P055297', 'score': 0.77}, {'connected_gene': 'ENSG00000263096', 'score': 0.34}]
chr17	GH17I055264	55264320	55268139	2.14	[{'connected_gene': 'HLF', 'score': 550.77}, {'connected_gene': 'PIR42816', 'score': 550.77}]
chr17	GH17I055301	55301329	55303335	0.92	[{'connected_gene': 'GC17M055299', 'score': 550.77}, {'connected_gene': 'HLF', 'score': 16.77}, {'connected_gene': 'ENSG00000263096', 'score': 6.79}, {'connected_gene': 'GC17M055312', 'score': 0.39}]
chr17	GH17I055320	55320331	55321512	0.52	[{'connected_gene': 'GC17M055312', 'score': 0.44}, {'connected_gene': 'ENSG00000262079', 'score': 0.44}, {'connected_gene': 'HLF', 'score': 0.22}]
chr17	GH17I055263	55263720	55264200	0.8	[{'connected_gene': 'GC17P055263', 'score': 550.77}, {'connected_gene': 'HLF', 'score': 550.77}]
chr17	GH17I055315	55314140	55314289	0.49	[{'connected_gene': 'GC17M055312', 'score': 550.77}, {'connected_gene': 'ENSG00000262079', 'score': 0.39}, {'connected_gene': 'HLF', 'score': 0.25}]
chr17	GH17I055306	55306360	55306529	0.91	[{'connected_gene': 'GC17M055312', 'score': 0.44}, {'connected_gene': 'GC17M055299', 'score': 0.44}, {'connected_gene': 'HLF', 'score': 0.26}]
chr17	GH17I055272	55272246	55275029	1.25	[{'connected_gene': 'ENSG00000263096', 'score': 550.77}, {'connected_gene': 'HLF', 'score': 5.89}, {'connected_gene': 'PIR42816', 'score': 0.44}]
chr17	GH17I055295	55295313	55295794	0.96	[{'connected_gene': 'GC17P055297', 'score': 550.77}, {'connected_gene': 'HLF', 'score': 12.11}, {'connected_gene': 'ENSG00000263096', 'score': 0.34}]
chr17	GH17I055268	55268587	55269693	0.46	[{'connected_gene': 'PIR42816', 'score': 550.77}, {'connected_gene': 'HLF', 'score': 0.77}, {'connected_gene': 'ENSG00000263096', 'score': 0.77}]
chr17	GH17I055275	55275119	55278815	1	[{'connected_gene': 'ENSG00000263096', 'score': 8.42}, {'connected_gene': 'HLF', 'score': 5.85}, {'connected_gene': 'GC17P055297', 'score': 0.34}]
chr17	GH17I055296	55296040	55296209	0.89	[{'connected_gene': 'GC17P055297', 'score': 550.77}, {'connected_gene': 'HLF', 'score': 12.11}, {'connected_gene': 'ENSG00000263096', 'score': 6.9}]
chr17	GH17I055280	55280144	55281597	0.52	[{'connected_gene': 'ENSG00000263096', 'score': 0.44}, {'connected_gene': 'HLF', 'score': 0.37}, {'connected_gene': 'GC17P055297', 'score': 0.37}]
chr17	GH17I055314	55314683	55315492	0.31	[{'connected_gene': 'GC17M055312', 'score': 550.77}, {'connected_gene': 'ENSG00000263096', 'score': 5.84}, {'connected_gene': 'ENSG00000262079', 'score': 0.39}, {'connected_gene': 'HLF', 'score': 0.23}]
chr17	GH17I055067	55067553	55070545	0.89	[{'connected_gene': 'GC17P055069', 'score': 550.77}, {'connected_gene': 'COX11', 'score': 15.04}, {'connected_gene': 'HLF', 'score': 11.54}, {'connected_gene': 'STXBP4', 'score': 0.15}]