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
ENST00000554615	[[39501122, 39502532], [39508234, 39510637]]	None
ENST00000537403	[[39501122, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39556727, 39557927]]	[[39502442, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556209]]
ENST00000307712	[[39501123, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565343], [39572235, 39572732]]	[[39502442, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565322]]
ENST00000536508	[[39501950, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39516570, 39516642], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39561744, 39561831], [39562390, 39562448], [39572235, 39572279]]	[[39502442, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39516570, 39516642], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560905]]
ENST00000545328	[[39502144, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39562390, 39562448], [39565101, 39565343], [39572235, 39572439]]	[[39502442, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39562390, 39562448], [39565101, 39565322]]
ENST00000555363	[[39502407, 39502532], [39508234, 39508300], [39509935, 39510448]]	None
ENST00000553925	[[39533752, 39534197], [39536376, 39536415]]	None
ENST00000555682	[[39560573, 39560917], [39561744, 39561798]]	None
ENST00000555017	[[39560776, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565343], [39572796, 39572856]]	[[39560776, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565322]]
ENST00000556092	[[39560861, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565343], [39572235, 39572327], [39572401, 39572437]]	[[39560861, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565322]]
ENST00000548032	[[39561964, 39562448], [39565101, 39565343], [39572235, 39572416]]	[[39562342, 39562448], [39565101, 39565322]]
ENST00000555425	[[39562388, 39562448], [39565101, 39565343], [39572796, 39572867], [39578676, 39578850]]	[[39562388, 39562448], [39565101, 39565322]]
ENST00000557280	[[39564101, 39564218], [39565101, 39565343], [39572235, 39572437]]	[[39564181, 39564218], [39565101, 39565322]]
ENST00000553970	[[39564101, 39564221], [39565101, 39565343], [39572235, 39572447]]	[[39564181, 39564221], [39565101, 39565322]]
ENST00000557437	[[39565202, 39565343], [39572235, 39572432], [39572796, 39573033]]	[[39565202, 39565322]]
NM_006364	[[39501122, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565343], [39572235, 39572732]]	[[39502442, 39502532], [39508234, 39508300], [39509935, 39510091], [39511989, 39512076], [39514366, 39514528], [39517855, 39517933], [39524346, 39524500], [39530968, 39531075], [39532527, 39532617], [39534116, 39534197], [39536376, 39536500], [39543618, 39543734], [39545138, 39545297], [39554965, 39555110], [39556132, 39556212], [39560680, 39560917], [39561744, 39561831], [39562390, 39562448], [39565101, 39565322]]

Promoter

Chrom	Start	End	Description
chr14	39510594	39510612	CAGE_peak_3_at_SEC23A_5end
chr14	39572307	39572340	CAGE_peak_2_at_SEC23A_5end
chr14	39572345	39572453	CAGE_peak_1_at_SEC23A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I039140	39140197	39140346	0.31	[{'connected_gene': 'GEMIN2', 'score': 12.33}, {'connected_gene': 'SEC23A', 'score': 12.31}, {'connected_gene': 'CTAGE5', 'score': 4.45}, {'connected_gene': 'GC14P039155', 'score': 0.39}, {'connected_gene': 'LOC105370459', 'score': 0.31}]
chr14	GH14I039173	39173782	39177106	2.1	[{'connected_gene': 'PNN', 'score': 579.67}, {'connected_gene': 'ENSG00000259083', 'score': 571.63}, {'connected_gene': 'RPL7AP2', 'score': 22.09}, {'connected_gene': 'GEMIN2', 'score': 11.15}, {'connected_gene': 'SEC23A', 'score': 11.14}, {'connected_gene': 'FBXO33', 'score': 10.29}, {'connected_gene': 'CTAGE5', 'score': 5.79}, {'connected_gene': 'TRAPPC6B', 'score': 5.47}, {'connected_gene': 'GC14P039155', 'score': 0.34}]
chr14	GH14I039096	39096884	39098000	1	[{'connected_gene': 'PNN', 'score': 10.62}, {'connected_gene': 'FBXO33', 'score': 10.46}, {'connected_gene': 'TRAPPC6B', 'score': 4.89}, {'connected_gene': 'SEC23A-AS1', 'score': 0.44}, {'connected_gene': 'GC14M038906', 'score': 0.44}, {'connected_gene': 'ENSG00000259121', 'score': 0.44}, {'connected_gene': 'SEC23A', 'score': 0.39}]
chr14	GH14I039187	39187091	39188299	0.59	[{'connected_gene': 'CTAGE5', 'score': 17.16}, {'connected_gene': 'MIA2', 'score': 11.6}, {'connected_gene': 'FBXO33', 'score': 10.38}, {'connected_gene': 'TRAPPC6B', 'score': 5.16}, {'connected_gene': 'SEC23A', 'score': 4.84}, {'connected_gene': 'GC14P039181', 'score': 0.44}, {'connected_gene': 'GC14P039193', 'score': 0.44}, {'connected_gene': 'GC14P039155', 'score': 0.29}]
chr14	GH14I039380	39380890	39382229	0.31	[{'connected_gene': 'CTAGE5', 'score': 24.65}, {'connected_gene': 'FBXO33', 'score': 11.07}, {'connected_gene': 'GEMIN2', 'score': 10.61}, {'connected_gene': 'SEC23A', 'score': 10.61}, {'connected_gene': 'MIA2', 'score': 10.59}, {'connected_gene': 'COILP1', 'score': 0.44}, {'connected_gene': 'ENSG00000271424', 'score': 0.39}]
chr14	GH14I039376	39376201	39378108	0.84	[{'connected_gene': 'CTAGE5', 'score': 21.58}, {'connected_gene': 'FBXO33', 'score': 11.35}, {'connected_gene': 'MIA2', 'score': 10.95}, {'connected_gene': 'GEMIN2', 'score': 10.62}, {'connected_gene': 'SEC23A', 'score': 10.61}, {'connected_gene': 'COILP1', 'score': 0.44}, {'connected_gene': 'ENSG00000271424', 'score': 0.44}]
chr14	GH14I039050	39050108	39051127	0.59	[{'connected_gene': 'CTAGE5', 'score': 5.68}, {'connected_gene': 'TRAPPC6B', 'score': 4.88}, {'connected_gene': 'GC14P039030', 'score': 0.34}, {'connected_gene': 'ENSG00000259121', 'score': 0.26}, {'connected_gene': 'SEC23A', 'score': 0.22}, {'connected_gene': 'GC14M038906', 'score': 0.22}]
chr14	GH14I039068	39068975	39070068	0.57	[{'connected_gene': 'CTAGE5', 'score': 5.65}, {'connected_gene': 'ENSG00000259121', 'score': 0.34}, {'connected_gene': 'GC14M038906', 'score': 0.28}, {'connected_gene': 'GC14P039030', 'score': 0.28}, {'connected_gene': 'SEC23A', 'score': 0.26}]
chr14	GH14I039023	39023343	39027184	0.96	[{'connected_gene': 'LINC00639', 'score': 7.49}, {'connected_gene': 'CTAGE5', 'score': 5.7}, {'connected_gene': 'SEC23A', 'score': 5.28}, {'connected_gene': 'TRAPPC6B', 'score': 4.7}, {'connected_gene': 'LOC100288846', 'score': 4.64}, {'connected_gene': 'GC14P039016', 'score': 0.44}, {'connected_gene': 'GC14P039030', 'score': 0.44}, {'connected_gene': 'GC14M038906', 'score': 0.18}]
chr14	GH14I039383	39383385	39383446	0.49	[{'connected_gene': 'FBXO33', 'score': 11.08}, {'connected_gene': 'GEMIN2', 'score': 10.61}, {'connected_gene': 'SEC23A', 'score': 10.61}, {'connected_gene': 'MIA2', 'score': 10.59}, {'connected_gene': 'CTAGE5', 'score': 10.59}, {'connected_gene': 'COILP1', 'score': 0.77}, {'connected_gene': 'ENSG00000271424', 'score': 0.39}]
chr14	GH14I039168	39168533	39171544	2.07	[{'connected_gene': 'TRAPPC6B', 'score': 555.73}, {'connected_gene': 'PNN', 'score': 19.68}, {'connected_gene': 'ENSG00000259083', 'score': 10.63}, {'connected_gene': 'FBXO33', 'score': 10.23}, {'connected_gene': 'SEC23A', 'score': 4.69}, {'connected_gene': 'GC14P039155', 'score': 0.39}, {'connected_gene': 'RPL7AP2', 'score': 0.39}]
chr14	GH14I039113	39113365	39115386	2.01	[{'connected_gene': 'LOC105370459', 'score': 550.77}, {'connected_gene': 'GEMIN2', 'score': 550.77}, {'connected_gene': 'PNN', 'score': 6.75}, {'connected_gene': 'CTAGE5', 'score': 5.68}, {'connected_gene': 'SEC23A', 'score': 5.66}, {'connected_gene': 'TRAPPC6B', 'score': 4.56}]
chr14	GH14I039145	39145077	39146030	0.95	[{'connected_gene': 'SEC23A', 'score': 16.86}, {'connected_gene': 'GEMIN2', 'score': 12.31}, {'connected_gene': 'CTAGE5', 'score': 5.24}, {'connected_gene': 'TRAPPC6B', 'score': 5.04}, {'connected_gene': 'GC14P039155', 'score': 0.44}, {'connected_gene': 'LOC105370459', 'score': 0.29}]
chr14	GH14I039061	39061048	39061586	0.62	[{'connected_gene': 'SEC23A', 'score': 11.32}, {'connected_gene': 'GEMIN2', 'score': 11.3}, {'connected_gene': 'ENSG00000259121', 'score': 0.31}, {'connected_gene': 'GC14P039030', 'score': 0.29}, {'connected_gene': 'GC14M038906', 'score': 0.26}]
chr14	GH14I039060	39060857	39061006	0.57	[{'connected_gene': 'SEC23A', 'score': 11.32}, {'connected_gene': 'GEMIN2', 'score': 11.3}, {'connected_gene': 'ENSG00000259121', 'score': 0.31}, {'connected_gene': 'GC14P039030', 'score': 0.29}, {'connected_gene': 'GC14M038906', 'score': 0.25}]
chr14	GH14I039107	39107537	39107806	0.75	[{'connected_gene': 'SEC23A', 'score': 555.66}, {'connected_gene': 'PPIAP4', 'score': 550.77}, {'connected_gene': 'GC14M038906', 'score': 550.77}, {'connected_gene': 'GC14P039109', 'score': 550.77}, {'connected_gene': 'TRAPPC6B', 'score': 5.06}]
chr14	GH14I039110	39110257	39110406	0.59	[{'connected_gene': 'SEC23A', 'score': 550.77}, {'connected_gene': 'GC14P039109', 'score': 550.77}, {'connected_gene': 'LOC105370459', 'score': 0.77}, {'connected_gene': 'GEMIN2', 'score': 0.77}]
chr14	GH14I039111	39110497	39110628	0.52	[{'connected_gene': 'SEC23A', 'score': 550.77}, {'connected_gene': 'LOC105370459', 'score': 0.77}, {'connected_gene': 'GEMIN2', 'score': 0.77}]
chr14	GH14I039101	39101270	39105087	2.06	[{'connected_gene': 'SEC23A', 'score': 555.36}, {'connected_gene': 'SEC23A-AS1', 'score': 550.77}, {'connected_gene': 'PNN', 'score': 16.63}, {'connected_gene': 'RPL7AP2', 'score': 12.0}, {'connected_gene': 'ENSG00000259083', 'score': 11.61}, {'connected_gene': 'CTAGE5', 'score': 5.66}, {'connected_gene': 'TRAPPC6B', 'score': 4.9}, {'connected_gene': 'GC14M038906', 'score': 0.77}]
chr14	GH14I039090	39090349	39090636	0.46	[{'connected_gene': 'ENSG00000259121', 'score': 550.77}, {'connected_gene': 'GEMIN2', 'score': 12.78}, {'connected_gene': 'FBXO33', 'score': 10.3}, {'connected_gene': 'CTAGE5', 'score': 5.67}, {'connected_gene': 'SEC23A', 'score': 0.37}, {'connected_gene': 'GC14M038906', 'score': 0.37}, {'connected_gene': 'GC14P039030', 'score': 0.22}]