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
ENST00000470285	[[75879125, 75879313], [75891687, 75891909], [75893054, 75893067]]	[[75891791, 75891909], [75893054, 75893067]]
ENST00000470197	[[75889831, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75907318, 75907440], [75914952, 75915103], [75916151, 75916351], [75917094, 75917207], [75917763, 75917845], [75921366, 75921553], [75923325, 75923441], [75928315, 75928498]]	None
ENST00000541687	[[75889831, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75907318, 75907440], [75914952, 75915103], [75916151, 75916351], [75917094, 75917207], [75917763, 75917845], [75919102, 75919226], [75921366, 75921553], [75928315, 75928413], [75929324, 75929549], [75933648, 75933777], [75937716, 75938041]]	[[75921505, 75921553], [75928315, 75928413], [75929324, 75929549], [75933648, 75933777], [75937716, 75937981]]
ENST00000321027	[[75889831, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75907318, 75907440], [75914952, 75915103], [75916151, 75916351], [75917094, 75917207], [75917763, 75917845], [75919102, 75919226], [75921366, 75921553], [75923325, 75923441], [75928315, 75928413], [75929324, 75929549], [75933648, 75933777], [75937716, 75938115]]	[[75891791, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75907318, 75907440], [75914952, 75915103], [75916151, 75916351], [75917094, 75917207], [75917763, 75917845], [75919102, 75919226], [75921366, 75921553], [75923325, 75923441], [75928315, 75928413], [75929324, 75929549], [75933648, 75933777], [75937716, 75937981]]
ENST00000492826	[[75891543, 75891909], [75897263, 75897340]]	[[75891903, 75891909], [75897263, 75897340]]
ENST00000409857	[[75891544, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75907318, 75907440], [75914952, 75915103], [75916151, 75916351], [75917094, 75917207], [75917763, 75917845], [75919102, 75919226], [75921366, 75921553], [75923325, 75923441], [75928315, 75928413], [75929438, 75929549], [75933648, 75933777], [75937716, 75938018]]	[[75891791, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75907318, 75907440], [75914952, 75915103], [75916151, 75916351], [75917094, 75917207], [75917763, 75917845], [75919102, 75919226], [75921366, 75921553], [75923325, 75923441], [75928315, 75928413], [75929438, 75929549], [75933648, 75933777], [75937716, 75937981]]
ENST00000427862	[[75891759, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75914952, 75915018]]	[[75891791, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75914952, 75915018]]
ENST00000472230	[[75891770, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75907318, 75907440], [75914952, 75915103], [75916151, 75916351], [75917094, 75917207], [75917763, 75917845], [75919102, 75919226], [75921366, 75921553], [75923325, 75923441], [75928315, 75928413], [75929324, 75929549], [75933648, 75933777], [75937569, 75937732]]	[[75937624, 75937732]]
ENST00000486016	[[75917613, 75917845], [75919102, 75919226], [75921366, 75921605]]	None
ENST00000442309	[[75923377, 75923441], [75928315, 75928413], [75933648, 75933777], [75937716, 75938067]]	[[75923377, 75923441], [75928315, 75928413], [75933648, 75933777], [75937716, 75937981]]
ENST00000470503	[[75928921, 75929549], [75933648, 75933777], [75937716, 75938025]]	[[75929295, 75929549], [75933648, 75933777], [75937716, 75937981]]
NM_001201334	[[75889830, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75907318, 75907440], [75914952, 75915103], [75916151, 75916351], [75917094, 75917207], [75917763, 75917845], [75919102, 75919226], [75921366, 75921553], [75923325, 75923441], [75928315, 75928413], [75929324, 75929549], [75933648, 75933777], [75937569, 75937732]]	[[75891791, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75907318, 75907440], [75914952, 75915103], [75916151, 75916351], [75917094, 75917207], [75917763, 75917845], [75919102, 75919226], [75921366, 75921553], [75923325, 75923441], [75928315, 75928413], [75929324, 75929436]]
NM_003203	[[75889830, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75907318, 75907440], [75914952, 75915103], [75916151, 75916351], [75917094, 75917207], [75917763, 75917845], [75919102, 75919226], [75921366, 75921553], [75923325, 75923441], [75928315, 75928413], [75929324, 75929549], [75933648, 75933777], [75937716, 75938111]]	[[75891791, 75891909], [75893054, 75893179], [75897263, 75897410], [75899075, 75899142], [75900569, 75900646], [75907318, 75907440], [75914952, 75915103], [75916151, 75916351], [75917094, 75917207], [75917763, 75917845], [75919102, 75919226], [75921366, 75921553], [75923325, 75923441], [75928315, 75928413], [75929324, 75929549], [75933648, 75933777], [75937716, 75937981]]
NM_001201335	[[75928907, 75929549], [75933648, 75933777], [75937716, 75938111]]	[[75929295, 75929549], [75933648, 75933777], [75937716, 75937981]]

Promoter

Chrom	Start	End	Description
chr2	75937794	75937867	CAGE_peak_2_at_GCFC2_5end
chr2	75937994	75938054	CAGE_peak_1_at_GCFC2_5end
chr2	75938128	75938135	CAGE_peak_3_at_GCFC2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I075604	75604277	75609784	1.5	[{'connected_gene': 'EVA1A', 'score': 16.39}, {'connected_gene': 'ENSG00000221638', 'score': 12.1}, {'connected_gene': 'MRPL19', 'score': 10.76}, {'connected_gene': 'TACR1', 'score': 10.55}, {'connected_gene': 'GCFC2', 'score': 9.42}, {'connected_gene': 'GC02M075596', 'score': 0.44}]
chr2	GH02I075569	75569265	75574227	1.79	[{'connected_gene': 'EVA1A', 'score': 559.46}, {'connected_gene': 'ENSG00000221638', 'score': 10.96}, {'connected_gene': 'ENSG00000270696', 'score': 8.74}, {'connected_gene': 'GCFC2', 'score': 6.16}, {'connected_gene': 'ENSG00000230477', 'score': 0.31}]
chr2	GH02I075613	75613490	75614987	0.69	[{'connected_gene': 'EVA1A', 'score': 10.76}, {'connected_gene': 'TACR1', 'score': 10.32}, {'connected_gene': 'GCFC2', 'score': 10.25}, {'connected_gene': 'MRPL19', 'score': 5.61}, {'connected_gene': 'ENSG00000221638', 'score': 0.39}, {'connected_gene': 'GC02M075596', 'score': 0.39}]
chr2	GH02I075676	75676153	75676356	0.5	[{'connected_gene': 'GCFC2', 'score': 13.47}, {'connected_gene': 'MRPL19', 'score': 11.49}, {'connected_gene': 'ENSG00000221638', 'score': 10.46}, {'connected_gene': 'ENSG00000271452', 'score': 0.44}, {'connected_gene': 'ENSG00000270462', 'score': 0.34}]
chr2	GH02I075677	75677415	75677564	0.74	[{'connected_gene': 'GCFC2', 'score': 18.63}, {'connected_gene': 'MRPL19', 'score': 11.51}, {'connected_gene': 'ENSG00000221638', 'score': 10.61}, {'connected_gene': 'ENSG00000271452', 'score': 0.44}, {'connected_gene': 'ENSG00000270462', 'score': 0.34}]
chr2	GH02I075619	75619754	75621700	0.49	[{'connected_gene': 'GCFC2', 'score': 12.23}, {'connected_gene': 'MRPL19', 'score': 7.23}, {'connected_gene': 'ENSG00000221638', 'score': 0.44}, {'connected_gene': 'GC02M075596', 'score': 0.34}]
chr2	GH02I075640	75640655	75641200	0.97	[{'connected_gene': 'GCFC2', 'score': 6.1}, {'connected_gene': 'MRPL19', 'score': 0.44}, {'connected_gene': 'GC02P075627', 'score': 0.39}]
chr2	GH02I075565	75565675	75565804	0.82	[{'connected_gene': 'GCFC2', 'score': 6.17}, {'connected_gene': 'EVA1A', 'score': 0.77}, {'connected_gene': 'LOC101927884', 'score': 0.26}]
chr2	GH02I075587	75587564	75588661	0.69	[{'connected_gene': 'GCFC2', 'score': 5.36}, {'connected_gene': 'ENSG00000230477', 'score': 0.44}, {'connected_gene': 'EVA1A', 'score': 0.37}]
chr2	GH02I075709	75709091	75711610	2.06	[{'connected_gene': 'GCFC2', 'score': 582.67}, {'connected_gene': 'GC02P075711', 'score': 550.77}, {'connected_gene': 'LOC105374813', 'score': 550.77}, {'connected_gene': 'MRPL19', 'score': 7.63}, {'connected_gene': 'ENSG00000270462', 'score': 0.39}]
chr2	GH02I075666	75666939	75667332	0.24	[{'connected_gene': 'ENSG00000221638', 'score': 10.74}, {'connected_gene': 'MRPL19', 'score': 6.05}, {'connected_gene': 'ENSG00000271452', 'score': 0.77}, {'connected_gene': 'ENSG00000270696', 'score': 0.44}, {'connected_gene': 'GCFC2', 'score': 0.26}]
chr2	GH02I075599	75599596	75603849	0.96	[{'connected_gene': 'GC02M075596', 'score': 550.77}, {'connected_gene': 'EVA1A', 'score': 17.65}, {'connected_gene': 'MRPL19', 'score': 15.25}, {'connected_gene': 'ENSG00000221638', 'score': 11.28}, {'connected_gene': 'ENSG00000270696', 'score': 9.69}, {'connected_gene': 'GCFC2', 'score': 9.69}]
chr2	GH02I075578	75577817	75578266	0.58	[{'connected_gene': 'ENSG00000221638', 'score': 10.52}, {'connected_gene': 'GCFC2', 'score': 6.32}, {'connected_gene': 'EVA1A', 'score': 0.44}, {'connected_gene': 'ENSG00000230477', 'score': 0.34}]
chr2	GH02I074714	74714614	74716200	1.17	[{'connected_gene': 'GC02P074717', 'score': 550.77}, {'connected_gene': 'LOC102724497', 'score': 550.77}, {'connected_gene': 'INO80B', 'score': 15.4}, {'connected_gene': 'WBP1', 'score': 15.1}, {'connected_gene': 'GCFC2', 'score': 12.96}, {'connected_gene': 'DUSP11', 'score': 12.52}, {'connected_gene': 'HK2', 'score': 11.81}, {'connected_gene': 'SEMA4F', 'score': 10.97}, {'connected_gene': 'M1AP', 'score': 10.96}, {'connected_gene': 'PCGF1', 'score': 10.92}, {'connected_gene': 'ENSG00000270571', 'score': 10.84}, {'connected_gene': 'TPRKB', 'score': 10.75}, {'connected_gene': 'ENSG00000271452', 'score': 10.38}, {'connected_gene': 'ENSG00000159239', 'score': 10.25}, {'connected_gene': 'ENSG00000273245', 'score': 10.01}, {'connected_gene': 'LBX2-AS1', 'score': 4.24}, {'connected_gene': 'RPS28P5', 'score': 0.28}]