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
ENST00000366955	[[214776537, 214776664], [214787056, 214787259], [214788174, 214788371], [214791915, 214792037], [214792471, 214792563], [214793997, 214794289], [214795421, 214795624], [214802388, 214802514], [214803876, 214804005], [214805822, 214805945], [214811208, 214811344], [214813263, 214816667], [214817899, 214820743], [214822017, 214822170], [214825052, 214825229], [214826170, 214826332], [214828583, 214828746], [214830275, 214830752], [214832192, 214832371], [214836933, 214837931]]	[[214787097, 214787259], [214788174, 214788371], [214791915, 214792037], [214792471, 214792563], [214793997, 214794289], [214795421, 214795624], [214802388, 214802514], [214803876, 214804005], [214805822, 214805945], [214811208, 214811344], [214813263, 214816667], [214817899, 214820743], [214822017, 214822170], [214825052, 214825229], [214826170, 214826332], [214828583, 214828746], [214830275, 214830752], [214832192, 214832371], [214836933, 214837137]]
ENST00000467765	[[214822017, 214822170], [214825052, 214825229], [214826170, 214826332], [214826827, 214827762]]	None
ENST00000464322	[[214776537, 214776664], [214787056, 214787259], [214788174, 214788533]]	None
ENST00000495259	[[214776826, 214776991], [214787056, 214787236]]	None
ENST00000469862	[[214828490, 214828746], [214830275, 214830753]]	None
NM_016343	[[214776531, 214776664], [214787056, 214787259], [214788174, 214788371], [214791915, 214792037], [214792471, 214792563], [214793997, 214794289], [214795421, 214795624], [214802388, 214802514], [214803876, 214804005], [214805822, 214805945], [214811208, 214811344], [214813263, 214816667], [214817899, 214820743], [214822017, 214822170], [214825052, 214825229], [214826170, 214826332], [214828583, 214828746], [214830275, 214830752], [214832192, 214832371], [214836933, 214837914]]	[[214787097, 214787259], [214788174, 214788371], [214791915, 214792037], [214792471, 214792563], [214793997, 214794289], [214795421, 214795624], [214802388, 214802514], [214803876, 214804005], [214805822, 214805945], [214811208, 214811344], [214813263, 214816667], [214817899, 214820743], [214822017, 214822170], [214825052, 214825229], [214826170, 214826332], [214828583, 214828746], [214830275, 214830752], [214832192, 214832371], [214836933, 214837137]]

Promoter

Chrom	Start	End	Description
chr1	214776516	214776565	CAGE_peak_1_at_CENPF_5end
chr1	214776570	214776593	CAGE_peak_2_at_CENPF_5end
chr1	214776602	214776615	CAGE_peak_3_at_CENPF_5end
chr1	214819419	214819434	CAGE_peak_4_at_CENPF_5end
chr1	214822050	214822063	CAGE_peak_6_at_CENPF_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I214557	214557743	214558826	1.02	[{'connected_gene': 'PTPN14', 'score': 6.01}, {'connected_gene': 'GC01P214548', 'score': 0.44}, {'connected_gene': 'CENPF', 'score': 0.26}]
chr1	GH01I214556	214556104	214556840	0.46	[{'connected_gene': 'PTPN14', 'score': 6.21}, {'connected_gene': 'GC01P214548', 'score': 0.44}, {'connected_gene': 'CENPF', 'score': 0.25}]
chr1	GH01I214569	214569109	214575790	0.96	[{'connected_gene': 'PTPN14', 'score': 12.11}, {'connected_gene': 'CENPF', 'score': 11.27}]
chr1	GH01I214563	214563594	214564240	0.38	[{'connected_gene': 'PTPN14', 'score': 0.39}, {'connected_gene': 'GC01P214548', 'score': 0.37}, {'connected_gene': 'CENPF', 'score': 0.28}]
chr1	GH01I214564	214564772	214565864	0.31	[{'connected_gene': 'PTPN14', 'score': 0.39}, {'connected_gene': 'GC01P214548', 'score': 0.37}, {'connected_gene': 'CENPF', 'score': 0.28}]
chr1	GH01I214425	214425198	214431120	1.47	[{'connected_gene': 'CENPF', 'score': 10.45}, {'connected_gene': 'PTPN14', 'score': 6.05}, {'connected_gene': 'ABHD17AP3', 'score': 4.92}, {'connected_gene': 'SMYD2', 'score': 4.87}, {'connected_gene': 'PROX1', 'score': 4.24}, {'connected_gene': 'KCNK2', 'score': 4.16}, {'connected_gene': 'GC01M214483', 'score': 0.22}, {'connected_gene': 'ENSG00000228470', 'score': 0.19}]
chr1	GH01I214437	214437641	214442556	1.74	[{'connected_gene': 'CENPF', 'score': 11.15}, {'connected_gene': 'PTPN14', 'score': 6.12}, {'connected_gene': 'ABHD17AP3', 'score': 4.9}, {'connected_gene': 'SMYD2', 'score': 4.86}, {'connected_gene': 'GC01M214483', 'score': 0.26}, {'connected_gene': 'ENSG00000228470', 'score': 0.18}]
chr1	GH01I214364	214364538	214364687	0.66	[{'connected_gene': 'CENPF', 'score': 9.99}, {'connected_gene': 'ENSG00000228470', 'score': 0.44}, {'connected_gene': 'GC01M214483', 'score': 0.13}, {'connected_gene': 'PTPN14', 'score': 0.09}]
chr1	GH01I214584	214584746	214585407	0.87	[{'connected_gene': 'CENPF', 'score': 0.37}, {'connected_gene': 'PTPN14', 'score': 0.29}]
chr1	GH01I214580	214580904	214583196	1.05	[{'connected_gene': 'CENPF', 'score': 0.34}, {'connected_gene': 'PTPN14', 'score': 0.31}]
chr1	GH01I214602	214602267	214605460	2.07	[{'connected_gene': 'CENPF', 'score': 558.08}, {'connected_gene': 'SMYD2', 'score': 9.82}, {'connected_gene': 'ABHD17AP3', 'score': 0.44}]
chr1	GH01I214989	214989170	214992073	0.72	[{'connected_gene': 'CENPF', 'score': 5.43}, {'connected_gene': 'KCNK2', 'score': 0.39}, {'connected_gene': 'ENSG00000223869', 'score': 0.25}]
chr1	GH01I214566	214566291	214568807	0.89	[{'connected_gene': 'GC01P214548', 'score': 0.37}, {'connected_gene': 'PTPN14', 'score': 0.37}, {'connected_gene': 'CENPF', 'score': 0.28}]
chr1	GH01I214660	214660978	214661187	0.62	[{'connected_gene': 'PIR57896', 'score': 0.26}, {'connected_gene': 'CENPF', 'score': 0.22}, {'connected_gene': 'GC01P214735', 'score': 0.19}]
chr1	GH01I214637	214637838	214637967	0.49	[{'connected_gene': 'PIR57896', 'score': 0.37}, {'connected_gene': 'CENPF', 'score': 0.29}, {'connected_gene': 'GC01P214735', 'score': 0.15}]
chr1	GH01I214627	214627938	214628087	0.46	[{'connected_gene': 'PIR57896', 'score': 0.44}, {'connected_gene': 'CENPF', 'score': 0.34}, {'connected_gene': 'GC01P214735', 'score': 0.14}]
chr1	GH01I214628	214628258	214628447	0.66	[{'connected_gene': 'PIR57896', 'score': 0.44}, {'connected_gene': 'CENPF', 'score': 0.31}, {'connected_gene': 'GC01P214735', 'score': 0.14}]