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
ENST00000588855	[[45457841, 45457958], [45465219, 45465332], [45476343, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45491120]]	None
ENST00000546079	[[45457847, 45457958], [45465219, 45465332], [45476343, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45494495, 45494631], [45495490, 45495658], [45495868, 45496448]]	[[45476464, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45494495, 45494631], [45495490, 45495658], [45495868, 45496155]]
ENST00000541297	[[45457847, 45458342], [45465219, 45465332], [45476343, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45494495, 45494631], [45495490, 45495658], [45495868, 45496454]]	[[45458312, 45458342], [45465219, 45465332], [45476343, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45494495, 45494631], [45495490, 45495658], [45495868, 45496155]]
ENST00000337392	[[45458502, 45458724], [45465219, 45465332], [45476343, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45494495, 45494631], [45495490, 45495658], [45495868, 45496599]]	[[45458652, 45458724], [45465219, 45465332], [45476343, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45494495, 45494631], [45495490, 45495658], [45495868, 45496155]]
ENST00000591304	[[45458637, 45458724], [45465219, 45465332], [45476343, 45476467], [45480599, 45480717], [45488475, 45488561]]	[[45458652, 45458724], [45465219, 45465332], [45476343, 45476467], [45480599, 45480717], [45488475, 45488561]]
ENST00000587537	[[45477803, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45490194]]	None
ENST00000585961	[[45458814, 45459097], [45465219, 45465332], [45476343, 45476467], [45477695, 45477747]]	[[45476464, 45476467], [45477695, 45477747]]
ENST00000589158	[[45487543, 45487873], [45488475, 45488561], [45489712, 45489833], [45490436, 45490648]]	None
ENST00000588274	[[45490161, 45490681], [45491337, 45491431], [45493652, 45493843]]	None
ENST00000589347	[[45490618, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45495490, 45495658], [45495868, 45495894]]	[[45490618, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45495490, 45495505]]
ENST00000586975	[[45493241, 45493843], [45494107, 45494203], [45494495, 45494517]]	None
ENST00000586915	[[45495525, 45495658], [45495810, 45496452]]	[[45495525, 45495658], [45495810, 45496307]]
NM_001282176	[[45457841, 45457958], [45465219, 45465332], [45476343, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45494495, 45494631], [45495490, 45495658], [45495868, 45496604]]	[[45476464, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45494495, 45494631], [45495490, 45495658], [45495868, 45496155]]
NM_001282175	[[45458249, 45458342], [45465219, 45465332], [45476343, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45494495, 45494631], [45495490, 45495658], [45495868, 45496604]]	[[45458312, 45458342], [45465219, 45465332], [45476343, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45494495, 45494631], [45495490, 45495658], [45495868, 45496155]]
NM_001294	[[45458480, 45458724], [45465219, 45465332], [45476343, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45494495, 45494631], [45495490, 45495658], [45495868, 45496604]]	[[45458652, 45458724], [45465219, 45465332], [45476343, 45476467], [45477695, 45477854], [45480599, 45480717], [45488475, 45488561], [45489712, 45489833], [45490436, 45490681], [45491337, 45491431], [45493652, 45493843], [45494107, 45494203], [45494495, 45494631], [45495490, 45495658], [45495868, 45496155]]

Promoter

Chrom	Start	End	Description
chr19	45457834	45457865	CAGE_peak_2_at_CLPTM1_5end
chr19	45458237	45458260	CAGE_peak_3_at_CLPTM1_5end
chr19	45458261	45458274	CAGE_peak_4_at_CLPTM1_5end
chr19	45458622	45458657	CAGE_peak_1_at_CLPTM1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I045000	45000493	45003019	1.98	[{'connected_gene': 'RELB', 'score': 550.77}, {'connected_gene': 'ZNF225', 'score': 19.83}, {'connected_gene': 'ZNF180', 'score': 16.06}, {'connected_gene': 'ZNF234', 'score': 15.97}, {'connected_gene': 'ZNF224', 'score': 15.91}, {'connected_gene': 'ZNF284', 'score': 12.35}, {'connected_gene': 'ZNF227', 'score': 12.14}, {'connected_gene': 'APOC2', 'score': 12.0}, {'connected_gene': 'CCDC61', 'score': 11.28}, {'connected_gene': 'CLASRP', 'score': 11.26}, {'connected_gene': 'IRF2BP1', 'score': 10.07}, {'connected_gene': 'ZNF230', 'score': 9.71}, {'connected_gene': 'CLPTM1', 'score': 5.96}]
chr19	GH19I044960	44960730	44962093	0.49	[{'connected_gene': 'APOC2', 'score': 13.97}, {'connected_gene': 'RELB', 'score': 12.36}, {'connected_gene': 'GEMIN7', 'score': 11.41}, {'connected_gene': 'PPP1R37', 'score': 11.4}, {'connected_gene': 'ZNF296', 'score': 11.4}, {'connected_gene': 'RNU6-611P', 'score': 11.37}, {'connected_gene': 'APOE', 'score': 11.31}, {'connected_gene': 'CLPTM1', 'score': 0.44}, {'connected_gene': 'GC19M044995', 'score': 0.29}]
chr19	GH19I045005	45005179	45009445	0.86	[{'connected_gene': 'APOC2', 'score': 17.73}, {'connected_gene': 'CLPTM1', 'score': 14.89}, {'connected_gene': 'CLASRP', 'score': 13.05}, {'connected_gene': 'ENSG00000267114', 'score': 12.68}, {'connected_gene': 'RNU6-611P', 'score': 12.48}, {'connected_gene': 'GEMIN7', 'score': 11.79}, {'connected_gene': 'ZNF296', 'score': 11.79}, {'connected_gene': 'PPP1R37', 'score': 11.77}, {'connected_gene': 'ZNF223', 'score': 11.58}, {'connected_gene': 'ZNF227', 'score': 10.64}, {'connected_gene': 'APOE', 'score': 10.42}, {'connected_gene': 'QPCTL', 'score': 10.41}, {'connected_gene': 'ZNF235', 'score': 10.28}, {'connected_gene': 'ZNF226', 'score': 9.9}, {'connected_gene': 'RELB', 'score': 0.44}]
chr19	GH19I044989	44989283	44989452	0.63	[{'connected_gene': 'APOC2', 'score': 23.7}, {'connected_gene': 'GC19M044995', 'score': 0.44}, {'connected_gene': 'CLPTM1', 'score': 0.29}]
chr19	GH19I044953	44953570	44956992	2.07	[{'connected_gene': 'CLPTM1', 'score': 568.27}, {'connected_gene': 'ENSG00000267114', 'score': 550.77}, {'connected_gene': 'APOC2', 'score': 19.85}, {'connected_gene': 'GC19M044995', 'score': 0.26}]