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
ENST00000552259	[[39040623, 39040895], [39064530, 39064604], [39069518, 39069576], [39071253, 39071356], [39073379, 39073424]]	None
ENST00000331366	[[39045986, 39047872], [39064530, 39064604], [39069518, 39069576], [39071253, 39071356], [39079291, 39079419], [39087458, 39087640], [39096676, 39096723], [39117573, 39117635], [39118647, 39118701], [39124084, 39124160], [39154648, 39154690], [39155913, 39156018], [39161436, 39161540], [39170039, 39170103], [39223180, 39223257], [39233717, 39233757], [39242360, 39242464], [39266805, 39266852], [39268272, 39268313], [39299238, 39299433]]	[[39047683, 39047872], [39064530, 39064604], [39069518, 39069576], [39071253, 39071356], [39079291, 39079419], [39087458, 39087640], [39096676, 39096723], [39117573, 39117635], [39118647, 39118701], [39124084, 39124160], [39154648, 39154690], [39155913, 39156018], [39161436, 39161540], [39170039, 39170103], [39223180, 39223257], [39233717, 39233757], [39242360, 39242464], [39266805, 39266852], [39268272, 39268313], [39299238, 39299336]]
ENST00000538596	[[39046159, 39047872], [39064530, 39064604], [39069518, 39069576], [39071253, 39071356], [39079291, 39079419], [39087458, 39087640], [39096676, 39096723], [39114454, 39115024]]	[[39047683, 39047872], [39064530, 39064604], [39069518, 39069576], [39071253, 39071356], [39079291, 39079419], [39087458, 39087608]]
ENST00000546603	[[39047172, 39047872], [39064530, 39064604], [39069518, 39069576], [39071253, 39071356], [39073379, 39073480]]	None
ENST00000360449	[[39047635, 39047872], [39064530, 39064604], [39069518, 39069576], [39071253, 39071356], [39079291, 39079419], [39087458, 39087640], [39096676, 39096723], [39117573, 39117635], [39118647, 39118701], [39124084, 39124160], [39154648, 39154690], [39155913, 39156018], [39161436, 39161540], [39170039, 39170103], [39223180, 39223257], [39233717, 39233757], [39242360, 39242464], [39266805, 39266852], [39268272, 39268313], [39301120, 39301232]]	[[39047683, 39047872], [39064530, 39064604], [39069518, 39069576], [39071253, 39071356], [39079291, 39079419], [39087458, 39087640], [39096676, 39096723], [39117573, 39117635], [39118647, 39118701], [39124084, 39124160], [39154648, 39154690], [39155913, 39156018], [39161436, 39161540], [39170039, 39170103], [39223180, 39223257], [39233717, 39233757], [39242360, 39242464], [39266805, 39266852], [39268272, 39268313], [39301120, 39301182]]
ENST00000547417	[[39047763, 39047872], [39064530, 39064797]]	None
ENST00000550863	[[39161492, 39161540], [39170039, 39170103], [39223180, 39223257], [39233717, 39233757], [39242360, 39242464], [39266805, 39266852], [39268272, 39268313], [39299943, 39300071]]	[[39161492, 39161528]]
ENST00000549842	[[39064558, 39064604], [39069518, 39069576], [39071253, 39071356], [39079291, 39079496]]	None
ENST00000551855	[[39120160, 39120396], [39124084, 39124160], [39154648, 39154690], [39155913, 39156018], [39161436, 39161519]]	None
NM_153634	[[39046001, 39047872], [39064530, 39064604], [39069518, 39069576], [39071253, 39071356], [39079291, 39079419], [39087458, 39087640], [39096676, 39096723], [39117573, 39117635], [39118647, 39118701], [39124084, 39124160], [39154648, 39154690], [39155913, 39156018], [39161436, 39161540], [39170039, 39170103], [39223180, 39223257], [39233717, 39233757], [39242360, 39242464], [39266805, 39266852], [39268272, 39268313], [39299238, 39299420]]	[[39047683, 39047872], [39064530, 39064604], [39069518, 39069576], [39071253, 39071356], [39079291, 39079419], [39087458, 39087640], [39096676, 39096723], [39117573, 39117635], [39118647, 39118701], [39124084, 39124160], [39154648, 39154690], [39155913, 39156018], [39161436, 39161540], [39170039, 39170103], [39223180, 39223257], [39233717, 39233757], [39242360, 39242464], [39266805, 39266852], [39268272, 39268313], [39299238, 39299336]]

Promoter

Chrom	Start	End	Description
chr12	39299386	39299400	CAGE_peak_1_at_CPNE8_5end
chr12	39299406	39299448	CAGE_peak_2_at_CPNE8_5end
chr12	39299537	39299550	CAGE_peak_3_at_CPNE8_5end
chr12	39299722	39299767	CAGE_peak_5_at_CPNE8_5end
chr12	39300016	39300031	CAGE_peak_11_at_CPNE8_5end
chr12	39300081	39300097	CAGE_peak_6_at_CPNE8_5end
chr12	39300561	39300588	CAGE_peak_4_at_CPNE8_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I039042	39042840	39043784	0.96	[{'connected_gene': 'CPNE8', 'score': 1.76}, {'connected_gene': 'ENSG00000257237', 'score': 0.37}, {'connected_gene': 'LOC100421126', 'score': 0.25}, {'connected_gene': 'GC12P038978', 'score': 0.21}]
chr12	GH12I038138	38138339	38139299	0.97	[{'connected_gene': 'CPNE8', 'score': 4.05}, {'connected_gene': 'ENSG00000274293', 'score': 0.39}, {'connected_gene': 'AK6P2', 'score': 0.23}]
chr12	GH12I039124	39124402	39124858	0.2	[{'connected_gene': 'CPNE8', 'score': 4.05}, {'connected_gene': 'GC12P039117', 'score': 0.44}, {'connected_gene': 'ENSG00000270718', 'score': 0.25}]
chr12	GH12I038891	38891986	38893059	1.14	[{'connected_gene': 'CPNE8', 'score': 0.39}, {'connected_gene': 'ENSG00000257718', 'score': 0.39}, {'connected_gene': 'ENSG00000258119', 'score': 0.06}]
chr12	GH12I038556	38556201	38556400	0.52	[{'connected_gene': 'CPNE8', 'score': 4.95}, {'connected_gene': 'GC12P038553', 'score': 0.77}, {'connected_gene': 'ENSG00000258119', 'score': 0.29}]
chr12	GH12I038701	38701050	38701423	0.22	[{'connected_gene': 'CPNE8', 'score': 3.95}, {'connected_gene': 'ENSG00000258119', 'score': 0.14}, {'connected_gene': 'ENSG00000257718', 'score': 0.08}]
chr12	GH12I038384	38384745	38387200	0.94	[{'connected_gene': 'CPNE8', 'score': 7.59}, {'connected_gene': 'ENSG00000257718', 'score': 7.35}, {'connected_gene': 'GC12P038428', 'score': 0.26}, {'connected_gene': 'GC12M038330', 'score': 0.22}]
chr12	GH12I038897	38897881	38898898	0.31	[{'connected_gene': 'CPNE8', 'score': 0.44}, {'connected_gene': 'ENSG00000257718', 'score': 0.44}, {'connected_gene': 'ENSG00000258119', 'score': 0.06}]
chr12	GH12I038710	38710263	38710413	0.24	[{'connected_gene': 'CPNE8', 'score': 11.1}, {'connected_gene': 'ENSG00000258119', 'score': 0.13}, {'connected_gene': 'ENSG00000257718', 'score': 0.08}]
chr12	GH12I038057	38056999	38057148	0.43	[{'connected_gene': 'CPNE8', 'score': 4.44}, {'connected_gene': 'ENSG00000257718', 'score': 4.28}, {'connected_gene': 'GC12M038080', 'score': 0.34}, {'connected_gene': 'GC12M037545', 'score': 0.03}]
chr12	GH12I038771	38771623	38772672	0.77	[{'connected_gene': 'CPNE8', 'score': 0.12}, {'connected_gene': 'ENSG00000257718', 'score': 0.12}, {'connected_gene': 'ENSG00000258119', 'score': 0.09}]
chr12	GH12I038315	38315948	38317619	2.09	[{'connected_gene': 'ALG10B', 'score': 569.5}, {'connected_gene': 'CPNE8', 'score': 4.49}, {'connected_gene': 'GC12P038329', 'score': 0.39}]
chr12	GH12I038903	38903127	38907623	2.06	[{'connected_gene': 'ENSG00000257718', 'score': 560.09}, {'connected_gene': 'CPNE8', 'score': 550.77}, {'connected_gene': 'ALG10B', 'score': 10.17}, {'connected_gene': 'ENSG00000258119', 'score': 0.06}]
chr12	GH12I038123	38123547	38124979	0.77	[{'connected_gene': 'ENSG00000257718', 'score': 4.48}, {'connected_gene': 'CPNE8', 'score': 4.06}, {'connected_gene': 'ENSG00000274293', 'score': 0.31}, {'connected_gene': 'AK6P2', 'score': 0.28}]
chr12	GH12I038150	38149459	38149608	0.46	[{'connected_gene': 'ENSG00000274293', 'score': 550.77}, {'connected_gene': 'CPNE8', 'score': 4.02}, {'connected_gene': 'AK6P2', 'score': 0.21}]
chr12	GH12I038743	38743801	38744654	0.2	[{'connected_gene': 'ENSG00000257718', 'score': 7.21}, {'connected_gene': 'CPNE8', 'score': 7.16}, {'connected_gene': 'ENSG00000258119', 'score': 0.1}]