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
ENST00000517746	[[108261720, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334123, 108334356], [108348377, 108348499], [108359169, 108359325], [108509489, 108510238]]	[[108264082, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334123, 108334356], [108348377, 108348499], [108359169, 108359325], [108509489, 108509786]]
ENST00000297450	[[108261720, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334126, 108334356], [108348377, 108348499], [108359169, 108359325], [108509489, 108510283]]	[[108264082, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334126, 108334356], [108348377, 108348499], [108359169, 108359325], [108509489, 108509786]]
ENST00000520052	[[108263739, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334126, 108334356], [108348377, 108348499], [108348611, 108348750]]	[[108264082, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334126, 108334331]]
ENST00000520734	[[108263739, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334123, 108334356], [108348377, 108348499], [108348611, 108348750]]	[[108264082, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334123, 108334331]]
ENST00000518386	[[108263754, 108264243], [108276448, 108276579], [108306163, 108306265], [108334126, 108334217]]	None
ENST00000520033	[[108359210, 108359325], [108506790, 108507223]]	[[108359210, 108359301]]
ENST00000521950	[[108296224, 108297076], [108306163, 108306265], [108315467, 108315595], [108334126, 108334221]]	None
ENST00000522400	[[108296746, 108297076], [108306163, 108307769]]	None
NM_001314051	[[108261709, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334123, 108334356], [108348377, 108348499], [108348611, 108348743]]	[[108264082, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334123, 108334331]]
NM_001146	[[108261709, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334123, 108334356], [108348377, 108348499], [108359169, 108359325], [108509489, 108510283]]	[[108264082, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334123, 108334356], [108348377, 108348499], [108359169, 108359325], [108509489, 108509786]]
NM_001199859	[[108261709, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334126, 108334356], [108348377, 108348499], [108359169, 108359325], [108509489, 108510283]]	[[108264082, 108264243], [108276448, 108276579], [108296909, 108297076], [108306163, 108306265], [108315467, 108315595], [108334126, 108334356], [108348377, 108348499], [108359169, 108359325], [108509489, 108509786]]

Promoter

Chrom	Start	End	Description
chr8	108334188	108334201	CAGE_peak_11_at_ANGPT1_5end
chr8	108334209	108334228	CAGE_peak_8_at_ANGPT1_5end
chr8	108509590	108509613	CAGE_peak_6_at_ANGPT1_5end
chr8	108509628	108509669	CAGE_peak_4_at_ANGPT1_5end
chr8	108509727	108509773	CAGE_peak_7_at_ANGPT1_5end
chr8	108509834	108509848	CAGE_peak_10_at_ANGPT1_5end
chr8	108509895	108509902	CAGE_peak_16_at_ANGPT1_5end
chr8	108510068	108510086	CAGE_peak_5_at_ANGPT1_5end
chr8	108510087	108510116	CAGE_peak_2_at_ANGPT1_5end
chr8	108510117	108510128	CAGE_peak_9_at_ANGPT1_5end
chr8	108510137	108510152	CAGE_peak_1_at_ANGPT1_5end
chr8	108510224	108510248	CAGE_peak_3_at_ANGPT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I107754	107754112	107755257	0.31	[{'connected_gene': 'ANGPT1', 'score': 10.65}, {'connected_gene': 'LOC105375703', 'score': 0.34}, {'connected_gene': 'GC08M107603', 'score': 0.21}]
chr8	GH08I107289	107289534	107290219	0.31	[{'connected_gene': 'ANGPT1', 'score': 10.33}, {'connected_gene': 'GC08M107315', 'score': 0.31}, {'connected_gene': 'HMGB1P46', 'score': 0.13}]
chr8	GH08I107309	107309512	107311392	1.4	[{'connected_gene': 'ANGPT1', 'score': 1.9}, {'connected_gene': 'GC08M107315', 'score': 0.44}, {'connected_gene': 'HMGB1P46', 'score': 0.12}]
chr8	GH08I107533	107533201	107534000	0.2	[{'connected_gene': 'ANGPT1', 'score': 12.26}, {'connected_gene': 'PGAM1P13', 'score': 0.14}]
chr8	GH08I107505	107505165	107506090	0.62	[{'connected_gene': 'ANGPT1', 'score': 0.44}, {'connected_gene': 'PGAM1P13', 'score': 0.11}]
chr8	GH08I107499	107499313	107499801	0.77	[{'connected_gene': 'ANGPT1', 'score': 550.77}, {'connected_gene': 'PGAM1P13', 'score': 0.11}]
chr8	GH08I107517	107517884	107519195	0.49	[{'connected_gene': 'ANGPT1', 'score': 0.34}, {'connected_gene': 'PGAM1P13', 'score': 0.13}]
chr8	GH08I107334	107334105	107337404	0.84	[{'connected_gene': 'ANGPT1', 'score': 10.43}, {'connected_gene': 'GC08M107314', 'score': 0.34}, {'connected_gene': 'GC08M107369', 'score': 0.22}]
chr8	GH08I107068	107068733	107068922	0.52	[{'connected_gene': 'ANGPT1', 'score': 11.8}, {'connected_gene': 'GC08P107137', 'score': 0.2}, {'connected_gene': 'ENSG00000275905', 'score': 0.17}]
chr8	GH08I107331	107331567	107332842	1.07	[{'connected_gene': 'ANGPT1', 'score': 10.44}, {'connected_gene': 'GC08M107314', 'score': 0.37}, {'connected_gene': 'GC08M107369', 'score': 0.21}]
chr8	GH08I107492	107492800	107493490	0.2	[{'connected_gene': 'ANGPT1', 'score': 0.77}, {'connected_gene': 'GC08M107369', 'score': 0.15}]
chr8	GH08I107462	107462201	107462400	0.2	[{'connected_gene': 'ANGPT1', 'score': 11.65}, {'connected_gene': 'GC08M107369', 'score': 0.2}]
chr8	GH08I107491	107491505	107492058	0.58	[{'connected_gene': 'ANGPT1', 'score': 0.44}, {'connected_gene': 'GC08M107369', 'score': 0.15}]
chr8	GH08I107457	107457401	107458356	0.31	[{'connected_gene': 'ANGPT1', 'score': 11.42}, {'connected_gene': 'GC08M107369', 'score': 0.21}]
chr8	GH08I107425	107425492	107426695	0.2	[{'connected_gene': 'ANGPT1', 'score': 18.65}, {'connected_gene': 'GC08M107369', 'score': 0.29}]
chr8	GH08I107455	107455800	107456842	0.2	[{'connected_gene': 'ANGPT1', 'score': 0.26}, {'connected_gene': 'GC08M107369', 'score': 0.21}]
chr8	GH08I107483	107483063	107483849	0.2	[{'connected_gene': 'ANGPT1', 'score': 0.39}, {'connected_gene': 'GC08M107369', 'score': 0.17}]
chr8	GH08I107489	107489216	107490948	1.09	[{'connected_gene': 'ANGPT1', 'score': 0.44}, {'connected_gene': 'GC08M107369', 'score': 0.15}]
chr8	GH08I107494	107494229	107498619	2.23	[{'connected_gene': 'ANGPT1', 'score': 558.72}, {'connected_gene': 'GC08M107369', 'score': 0.15}]
chr8	GH08I107485	107485205	107487430	0.86	[{'connected_gene': 'ANGPT1', 'score': 7.11}, {'connected_gene': 'GC08M107369', 'score': 0.16}]
chr8	GH08I107629	107629713	107629862	0.2	[{'connected_gene': 'PGAM1P13', 'score': 0.37}, {'connected_gene': 'GC08M107603', 'score': 0.21}, {'connected_gene': 'ANGPT1', 'score': 0.12}]
chr8	GH08I107635	107635873	107636022	0.2	[{'connected_gene': 'PGAM1P13', 'score': 0.39}, {'connected_gene': 'GC08M107603', 'score': 0.22}, {'connected_gene': 'ANGPT1', 'score': 0.12}]
chr8	GH08I107631	107631801	107632859	0.58	[{'connected_gene': 'PGAM1P13', 'score': 0.39}, {'connected_gene': 'GC08M107603', 'score': 0.22}, {'connected_gene': 'ANGPT1', 'score': 0.12}]
chr8	GH08I107428	107428647	107430142	0.66	[{'connected_gene': 'GC08M107369', 'score': 0.29}, {'connected_gene': 'ANGPT1', 'score': 0.2}]
chr8	GH08I107435	107435313	107436302	0.31	[{'connected_gene': 'GC08M107369', 'score': 0.26}, {'connected_gene': 'ANGPT1', 'score': 0.21}]
chr8	GH08I107443	107443937	107445270	0.38	[{'connected_gene': 'GC08M107369', 'score': 0.23}, {'connected_gene': 'ANGPT1', 'score': 0.23}]
chr8	GH08I107358	107358413	107358562	0.2	[{'connected_gene': 'GC08M107369', 'score': 0.28}, {'connected_gene': 'GC08M107314', 'score': 0.26}, {'connected_gene': 'ANGPT1', 'score': 0.12}]
chr8	GH08I107324	107324344	107324397	0.48	[{'connected_gene': 'GC08M107314', 'score': 0.44}, {'connected_gene': 'GC08M107369', 'score': 0.19}, {'connected_gene': 'ANGPT1', 'score': 0.09}]
chr8	GH08I107430	107430315	107430482	0.2	[{'connected_gene': 'GC08M107369', 'score': 0.28}, {'connected_gene': 'ANGPT1', 'score': 0.2}]
chr8	GH08I107421	107421175	107421800	0.69	[{'connected_gene': 'GC08M107369', 'score': 0.31}, {'connected_gene': 'ANGPT1', 'score': 0.18}]
chr8	GH08I107342	107342960	107343785	0.2	[{'connected_gene': 'GC08M107314', 'score': 0.31}, {'connected_gene': 'GC08M107369', 'score': 0.23}, {'connected_gene': 'ANGPT1', 'score': 0.1}]
chr8	GH08I107343	107343833	107344612	0.74	[{'connected_gene': 'GC08M107314', 'score': 0.31}, {'connected_gene': 'GC08M107369', 'score': 0.23}, {'connected_gene': 'ANGPT1', 'score': 0.1}]
chr8	GH08I107376	107376449	107377540	0.38	[{'connected_gene': 'GC08M107369', 'score': 0.37}, {'connected_gene': 'GC08M107314', 'score': 0.21}, {'connected_gene': 'ANGPT1', 'score': 0.13}]
chr8	GH08I107319	107319781	107321155	0.38	[{'connected_gene': 'GC08M107314', 'score': 0.77}, {'connected_gene': 'GC08M107369', 'score': 0.19}, {'connected_gene': 'ANGPT1', 'score': 0.1}]
chr8	GH08I107316	107316625	107317643	0.31	[{'connected_gene': 'GC08M107315', 'score': 550.77}, {'connected_gene': 'GC08M107314', 'score': 550.77}, {'connected_gene': 'GC08M107369', 'score': 0.18}, {'connected_gene': 'ANGPT1', 'score': 0.09}]
chr8	GH08I107436	107436450	107436568	0.43	[{'connected_gene': 'GC08M107369', 'score': 0.26}, {'connected_gene': 'ANGPT1', 'score': 0.21}]
chr8	GH08I107303	107303846	107304296	0.58	[{'connected_gene': 'GC08M107315', 'score': 0.39}, {'connected_gene': 'HMGB1P46', 'score': 0.12}, {'connected_gene': 'ANGPT1', 'score': 0.08}]
chr8	GH08I107312	107312060	107312747	0.31	[{'connected_gene': 'GC08M107315', 'score': 0.77}, {'connected_gene': 'HMGB1P46', 'score': 0.12}, {'connected_gene': 'ANGPT1', 'score': 0.09}]
chr8	GH08I107314	107314253	107316031	0.66	[{'connected_gene': 'GC08M107315', 'score': 550.77}, {'connected_gene': 'GC08M107314', 'score': 550.77}, {'connected_gene': 'HMGB1P46', 'score': 0.11}, {'connected_gene': 'ANGPT1', 'score': 0.09}]
chr8	GH08I107288	107288392	107289170	0.38	[{'connected_gene': 'GC08M107315', 'score': 0.31}, {'connected_gene': 'HMGB1P46', 'score': 0.14}, {'connected_gene': 'ANGPT1', 'score': 0.08}]
chr8	GH08I107304	107304744	107306370	1.45	[{'connected_gene': 'GC08M107315', 'score': 0.39}, {'connected_gene': 'HMGB1P46', 'score': 0.12}, {'connected_gene': 'ANGPT1', 'score': 0.08}]
chr8	GH08I107286	107286550	107288250	0.79	[{'connected_gene': 'GC08M107315', 'score': 0.31}, {'connected_gene': 'HMGB1P46', 'score': 0.14}, {'connected_gene': 'ANGPT1', 'score': 0.08}]