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
ENST00000303221	[[49692025, 49695124], [49695692, 49695747], [49698119, 49698153], [49699011, 49699288], [49701558, 49701686], [49706710, 49706799], [49707030, 49707217], [49723977, 49724061], [49736873, 49737201]]	[[49695106, 49695124], [49695692, 49695747], [49698119, 49698153], [49699011, 49699288], [49701558, 49701686], [49706710, 49706799], [49707030, 49707217], [49723977, 49724061], [49736873, 49736985]]
ENST00000505896	[[49693860, 49695124], [49695692, 49695747], [49698119, 49698153], [49699011, 49699288], [49701558, 49701686], [49706710, 49706799], [49707030, 49707832]]	None
ENST00000508934	[[49694510, 49695124], [49695692, 49695747], [49698119, 49698153], [49699011, 49699288], [49701558, 49701686], [49706710, 49706799], [49707030, 49707055], [49723977, 49724061], [49736873, 49737184]]	[[49695106, 49695124], [49695692, 49695747], [49698119, 49698153], [49699011, 49699288], [49701558, 49701686], [49706710, 49706799], [49707030, 49707055], [49723977, 49724061], [49736873, 49736985]]
ENST00000514111	[[49694772, 49695124], [49695692, 49695747], [49698119, 49698153], [49699011, 49699288], [49701558, 49701686], [49706710, 49706799], [49707030, 49707217], [49723977, 49724061], [49724292, 49724561]]	[[49695106, 49695124], [49695692, 49695747], [49698119, 49698153], [49699011, 49699288], [49701558, 49701686], [49706710, 49706799], [49707030, 49707217], [49723977, 49724023]]
ENST00000506190	[[49699089, 49699288], [49701558, 49701686], [49706710, 49706799], [49707030, 49707217], [49723977, 49724061], [49738785, 49738818], [49739023, 49739082]]	None
NM_198449	[[49692030, 49695124], [49695692, 49695747], [49698119, 49698153], [49699011, 49699288], [49701558, 49701686], [49706710, 49706799], [49707030, 49707217], [49723977, 49724061], [49736873, 49737234]]	[[49695106, 49695124], [49695692, 49695747], [49698119, 49698153], [49699011, 49699288], [49701558, 49701686], [49706710, 49706799], [49707030, 49707217], [49723977, 49724061], [49736873, 49736985]]

Promoter

Chrom	Start	End	Description
chr5	49737017	49737026	CAGE_peak_4_at_EMB_5end
chr5	49737061	49737073	CAGE_peak_3_at_EMB_5end
chr5	49737078	49737134	CAGE_peak_1_at_EMB_5end
chr5	49737190	49737239	CAGE_peak_2_at_EMB_5end
chr5	49737241	49737253	CAGE_peak_5_at_EMB_5end
chr5	49737286	49737295	CAGE_peak_17_at_EMB_5end
chr5	49737460	49737482	CAGE_peak_13_at_EMB_5end
chr5	49739173	49739184	CAGE_peak_8_at_EMB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I050589	50589938	50594806	0.49	[{'connected_gene': 'PARP8', 'score': 36.76}, {'connected_gene': 'EMB', 'score': 5.51}, {'connected_gene': 'ENSG00000271455', 'score': 0.39}, {'connected_gene': 'GC05M050468', 'score': 0.13}]
chr5	GH05I050435	50435231	50435540	0.6	[{'connected_gene': 'PARP8', 'score': 4.32}, {'connected_gene': 'EMB', 'score': 3.29}, {'connected_gene': 'PIR39947', 'score': 0.39}]
chr5	GH05I050695	50694000	50694309	0.79	[{'connected_gene': 'PARP8', 'score': 2.08}, {'connected_gene': 'EMB', 'score': 1.17}, {'connected_gene': 'ENSG00000249405', 'score': 0.1}]
chr5	GH05I050423	50423490	50423665	0.86	[{'connected_gene': 'PARP8', 'score': 3.08}, {'connected_gene': 'PIR39947', 'score': 0.77}, {'connected_gene': 'EMB', 'score': 0.37}]
chr5	GH05I050962	50962892	50964528	1.24	[{'connected_gene': 'ISL1', 'score': 10.05}, {'connected_gene': 'PARP8', 'score': 5.48}, {'connected_gene': 'EMB', 'score': 3.88}, {'connected_gene': 'ENSG00000250360', 'score': 0.77}, {'connected_gene': 'ENSG00000251601', 'score': 0.31}, {'connected_gene': 'GC05M050956', 'score': 0.22}]
chr5	GH05I051380	51380978	51390638	2.18	[{'connected_gene': 'ISL1', 'score': 550.77}, {'connected_gene': 'EMB', 'score': 3.82}, {'connected_gene': 'LOC642366', 'score': 0.77}, {'connected_gene': 'GC05M051356', 'score': 0.77}, {'connected_gene': 'GC05P051405', 'score': 0.37}]
chr5	GH05I050400	50400522	50402180	0.2	[{'connected_gene': 'EMB', 'score': 20.07}, {'connected_gene': 'PARP8', 'score': 8.87}, {'connected_gene': 'GC05M050397', 'score': 0.77}, {'connected_gene': 'PIR39947', 'score': 0.37}]
chr5	GH05I050553	50553401	50553999	0.2	[{'connected_gene': 'EMB', 'score': 15.19}, {'connected_gene': 'PARP8', 'score': 5.13}, {'connected_gene': 'ENSG00000271455', 'score': 0.25}, {'connected_gene': 'GC05M050468', 'score': 0.18}]
chr5	GH05I050563	50563881	50566779	0.43	[{'connected_gene': 'EMB', 'score': 12.93}, {'connected_gene': 'PARP8', 'score': 4.82}, {'connected_gene': 'ENSG00000271455', 'score': 0.28}, {'connected_gene': 'GC05M050468', 'score': 0.16}]
chr5	GH05I050302	50301211	50303876	0.57	[{'connected_gene': 'EMB', 'score': 19.92}, {'connected_gene': 'PARP8', 'score': 9.77}, {'connected_gene': 'GC05M050374', 'score': 0.18}]
chr5	GH05I050327	50327979	50328785	0.2	[{'connected_gene': 'EMB', 'score': 20.13}, {'connected_gene': 'PARP8', 'score': 12.04}, {'connected_gene': 'GC05M050374', 'score': 0.23}]
chr5	GH05I050325	50325206	50325592	0.57	[{'connected_gene': 'EMB', 'score': 19.94}, {'connected_gene': 'PARP8', 'score': 4.75}, {'connected_gene': 'GC05M050374', 'score': 0.23}]
chr5	GH05I050415	50415119	50417207	0.66	[{'connected_gene': 'EMB', 'score': 20.12}, {'connected_gene': 'PIR39947', 'score': 0.77}, {'connected_gene': 'GC05M050397', 'score': 0.37}]
chr5	GH05I050501	50501439	50502400	0.89	[{'connected_gene': 'EMB', 'score': 20.03}, {'connected_gene': 'GC05M050468', 'score': 0.29}, {'connected_gene': 'ENSG00000271455', 'score': 0.15}]
chr5	GH05I050427	50427657	50431920	0.89	[{'connected_gene': 'EMB', 'score': 20.29}, {'connected_gene': 'PIR39947', 'score': 0.44}]
chr5	GH05I050438	50438465	50439319	0.38	[{'connected_gene': 'EMB', 'score': 0.77}, {'connected_gene': 'PIR39947', 'score': 0.37}]
chr5	GH05I050436	50436204	50437121	0.2	[{'connected_gene': 'EMB', 'score': 20.24}, {'connected_gene': 'PIR39947', 'score': 0.37}]
chr5	GH05I050424	50424249	50425534	0.31	[{'connected_gene': 'EMB', 'score': 18.8}, {'connected_gene': 'PIR39947', 'score': 0.77}]
chr5	GH05I050439	50439783	50442743	2.13	[{'connected_gene': 'EMB', 'score': 570.58}, {'connected_gene': 'PIR39947', 'score': 0.34}]
chr5	GH05I050444	50444401	50446898	1.1	[{'connected_gene': 'EMB', 'score': 19.24}, {'connected_gene': 'GC05P050464', 'score': 0.37}]
chr5	GH05I050364	50364182	50364568	0.24	[{'connected_gene': 'EMB', 'score': 17.56}, {'connected_gene': 'GC05M050374', 'score': 0.37}]
chr5	GH05I051095	51095065	51096423	0.98	[{'connected_gene': 'RNU6-480P', 'score': 11.21}, {'connected_gene': 'EMB', 'score': 3.98}, {'connected_gene': 'ENSG00000278734', 'score': 0.44}, {'connected_gene': 'GC05P051081', 'score': 0.39}]
chr5	GH05I050419	50419951	50421388	0.56	[{'connected_gene': 'PIR39947', 'score': 550.77}, {'connected_gene': 'EMB', 'score': 31.85}, {'connected_gene': 'PARP8', 'score': 7.07}, {'connected_gene': 'GC05M050397', 'score': 0.34}]
chr5	GH05I050406	50406987	50407136	0.51	[{'connected_gene': 'PIR39947', 'score': 0.39}, {'connected_gene': 'GC05M050397', 'score': 0.39}, {'connected_gene': 'EMB', 'score': 0.28}]