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
ENST00000264914	[[78073031, 78076485], [78077674, 78077797], [78135178, 78135249], [78181406, 78181650], [78251117, 78251325], [78260238, 78260429], [78264828, 78265015], [78280759, 78281608]]	[[78076219, 78076485], [78077674, 78077797], [78135178, 78135249], [78181406, 78181650], [78251117, 78251325], [78260238, 78260429], [78264828, 78265015], [78280759, 78281071]]
ENST00000396151	[[78111333, 78111937], [78135178, 78135249], [78181406, 78181650], [78251117, 78251325], [78260238, 78260429], [78264828, 78265015], [78280759, 78281381], [78281721, 78281910]]	[[78111908, 78111937], [78135178, 78135249], [78181406, 78181650], [78251117, 78251325], [78260238, 78260429], [78264828, 78265015], [78280759, 78281071]]
ENST00000565165	[[78111877, 78111937], [78135178, 78135249], [78181406, 78181650], [78251117, 78251325], [78260238, 78260429], [78264828, 78265015], [78280759, 78281381], [78281721, 78281910]]	[[78111908, 78111937], [78135178, 78135249], [78181406, 78181650], [78251117, 78251325], [78260238, 78260429], [78264828, 78265015], [78280759, 78281071]]
ENST00000521011	[[78076174, 78076485], [78077674, 78077797], [78079139, 78079317]]	None
ENST00000521800	[[78180116, 78180951], [78181406, 78181653]]	None
ENST00000521117	[[78280934, 78281381], [78281535, 78281661]]	[[78280934, 78281071]]
NM_000046	[[78073031, 78076485], [78077674, 78077797], [78135178, 78135249], [78181406, 78181650], [78251117, 78251325], [78260238, 78260429], [78264828, 78265015], [78280759, 78282357]]	[[78076219, 78076485], [78077674, 78077797], [78135178, 78135249], [78181406, 78181650], [78251117, 78251325], [78260238, 78260429], [78264828, 78265015], [78280759, 78281071]]
NM_198709	[[78111333, 78111937], [78135178, 78135249], [78181406, 78181650], [78251117, 78251325], [78260238, 78260429], [78264828, 78265015], [78280759, 78281381], [78281721, 78281766]]	[[78111908, 78111937], [78135178, 78135249], [78181406, 78181650], [78251117, 78251325], [78260238, 78260429], [78264828, 78265015], [78280759, 78281071]]

Promoter

Chrom	Start	End	Description
chr5	78280999	78281009	CAGE_peak_8_at_ARSB_5end
chr5	78281092	78281154	CAGE_peak_1_at_ARSB_5end
chr5	78281200	78281243	CAGE_peak_3_at_ARSB_5end
chr5	78281244	78281285	CAGE_peak_2_at_ARSB_5end
chr5	78281466	78281500	CAGE_peak_5_at_ARSB_5end
chr5	78281580	78281593	CAGE_peak_9_at_ARSB_5end
chr5	78281603	78281617	CAGE_peak_4_at_ARSB_5end
chr5	78281623	78281638	CAGE_peak_6_at_ARSB_5end
chr5	78281692	78281703	CAGE_peak_18_at_ARSB_5end
chr5	78281738	78281751	CAGE_peak_12_at_ARSB_5end
chr5	78281775	78281788	CAGE_peak_10_at_ARSB_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I078539	78539601	78542443	1.18	[{'connected_gene': 'SCAMP1', 'score': 5.26}, {'connected_gene': 'AP3B1', 'score': 2.65}, {'connected_gene': 'ARSB', 'score': 1.71}, {'connected_gene': 'PIR51536', 'score': 0.29}, {'connected_gene': 'GC05M078588', 'score': 0.25}, {'connected_gene': 'LHFPL2', 'score': 0.07}]
chr5	GH05I078517	78517801	78520523	1.61	[{'connected_gene': 'SCAMP1-AS1', 'score': 6.9}, {'connected_gene': 'LHFPL2', 'score': 6.34}, {'connected_gene': 'SCAMP1', 'score': 4.89}, {'connected_gene': 'AP3B1', 'score': 2.07}, {'connected_gene': 'ARSB', 'score': 1.62}, {'connected_gene': 'PIR51536', 'score': 0.44}, {'connected_gene': 'GC05M078588', 'score': 0.19}]
chr5	GH05I078513	78513483	78513884	0.37	[{'connected_gene': 'SCAMP1-AS1', 'score': 7.65}, {'connected_gene': 'LHFPL2', 'score': 6.64}, {'connected_gene': 'AP3B1', 'score': 2.41}, {'connected_gene': 'ARSB', 'score': 1.57}, {'connected_gene': 'PIR51536', 'score': 0.77}, {'connected_gene': 'GC05M078588', 'score': 0.18}]
chr5	GH05I078778	78778194	78780763	1.07	[{'connected_gene': 'TBCA', 'score': 10.49}, {'connected_gene': 'LHFPL2', 'score': 0.44}, {'connected_gene': 'GC05P078984', 'score': 0.08}, {'connected_gene': 'ARSB', 'score': 0.08}]
chr5	GH05I079020	79020508	79021616	0.95	[{'connected_gene': 'ARSB', 'score': 15.93}, {'connected_gene': 'BHMT', 'score': 11.59}, {'connected_gene': 'BHMT2', 'score': 7.62}, {'connected_gene': 'LOC100505796', 'score': 0.37}, {'connected_gene': 'GC05M079042', 'score': 0.34}, {'connected_gene': 'DMGDH', 'score': 0.08}]
chr5	GH05I078979	78979175	78986528	2.28	[{'connected_gene': 'ARSB', 'score': 568.03}, {'connected_gene': 'GC05P078984', 'score': 550.77}, {'connected_gene': 'JMY', 'score': 12.26}, {'connected_gene': 'BHMT', 'score': 7.65}, {'connected_gene': 'LHFPL2', 'score': 0.08}]
chr5	GH05I078899	78899958	78900107	0.63	[{'connected_gene': 'ARSB', 'score': 6.03}, {'connected_gene': 'GC05P078984', 'score': 0.18}, {'connected_gene': 'LHFPL2', 'score': 0.12}]
chr5	GH05I078911	78911780	78913083	1.12	[{'connected_gene': 'ARSB', 'score': 23.36}, {'connected_gene': 'LHFPL2', 'score': 10.4}, {'connected_gene': 'GC05P078984', 'score': 0.19}]
chr5	GH05I078905	78905113	78910385	1.6	[{'connected_gene': 'ARSB', 'score': 12.49}, {'connected_gene': 'GC05P078984', 'score': 0.18}, {'connected_gene': 'LHFPL2', 'score': 0.12}]
chr5	GH05I078857	78857478	78859224	0.2	[{'connected_gene': 'ARSB', 'score': 11.46}, {'connected_gene': 'LHFPL2', 'score': 0.17}, {'connected_gene': 'GC05P078984', 'score': 0.13}]
chr5	GH05I078889	78889752	78890506	0.51	[{'connected_gene': 'ARSB', 'score': 11.74}, {'connected_gene': 'LHFPL2', 'score': 10.65}, {'connected_gene': 'GC05P078984', 'score': 0.16}]
chr5	GH05I078893	78893423	78894617	0.56	[{'connected_gene': 'DMGDH', 'score': 5.61}, {'connected_gene': 'PAPD4', 'score': 4.32}, {'connected_gene': 'GC05P078984', 'score': 0.16}, {'connected_gene': 'ARSB', 'score': 0.16}, {'connected_gene': 'LHFPL2', 'score': 0.13}]
chr5	GH05I078972	78972073	78975081	0.88	[{'connected_gene': 'JMY', 'score': 14.14}, {'connected_gene': 'RPS3AP20', 'score': 12.02}, {'connected_gene': 'BHMT2', 'score': 5.43}, {'connected_gene': 'GC05P078984', 'score': 0.39}, {'connected_gene': 'ARSB', 'score': 0.39}, {'connected_gene': 'LHFPL2', 'score': 0.08}]
chr5	GH05I078533	78533402	78535680	1.43	[{'connected_gene': 'LHFPL2', 'score': 9.9}, {'connected_gene': 'SCAMP1', 'score': 5.62}, {'connected_gene': 'SCAMP1-AS1', 'score': 4.71}, {'connected_gene': 'AP3B1', 'score': 2.57}, {'connected_gene': 'ARSB', 'score': 1.27}, {'connected_gene': 'PIR51536', 'score': 0.34}, {'connected_gene': 'GC05M078588', 'score': 0.22}]
chr5	GH05I078531	78531711	78531781	0.67	[{'connected_gene': 'LHFPL2', 'score': 9.9}, {'connected_gene': 'AP3B1', 'score': 2.61}, {'connected_gene': 'ARSB', 'score': 1.64}, {'connected_gene': 'PIR51536', 'score': 0.34}, {'connected_gene': 'GC05M078588', 'score': 0.22}]
chr5	GH05I078522	78522419	78531399	1.72	[{'connected_gene': 'LHFPL2', 'score': 10.0}, {'connected_gene': 'SCAMP1-AS1', 'score': 5.74}, {'connected_gene': 'SCAMP1', 'score': 5.47}, {'connected_gene': 'AP3B1', 'score': 2.88}, {'connected_gene': 'ARSB', 'score': 1.68}, {'connected_gene': 'PIR51536', 'score': 0.37}, {'connected_gene': 'GC05M078588', 'score': 0.21}]
chr5	GH05I078806	78806140	78807858	0.8	[{'connected_gene': 'LHFPL2', 'score': 11.37}, {'connected_gene': 'GC05P078984', 'score': 0.1}, {'connected_gene': 'ARSB', 'score': 0.1}]
chr5	GH05I078824	78824319	78825998	0.38	[{'connected_gene': 'LHFPL2', 'score': 10.99}, {'connected_gene': 'GC05P078984', 'score': 0.1}, {'connected_gene': 'ARSB', 'score': 0.1}]
chr5	GH05I078923	78923038	78923107	0.2	[{'connected_gene': 'LHFPL2', 'score': 10.69}, {'connected_gene': 'GC05P078984', 'score': 0.21}, {'connected_gene': 'ARSB', 'score': 0.21}]
chr5	GH05I078765	78765707	78766828	0.31	[{'connected_gene': 'LHFPL2', 'score': 5.01}, {'connected_gene': 'ARSB', 'score': 4.93}, {'connected_gene': 'ENSG00000254310', 'score': 0.39}]
chr5	GH05I078792	78792364	78792801	0.49	[{'connected_gene': 'LHFPL2', 'score': 12.33}, {'connected_gene': 'GC05P078984', 'score': 0.08}, {'connected_gene': 'ARSB', 'score': 0.08}]
chr5	GH05I078798	78798652	78799901	0.43	[{'connected_gene': 'LHFPL2', 'score': 12.31}, {'connected_gene': 'GC05P078984', 'score': 0.09}, {'connected_gene': 'ARSB', 'score': 0.09}]
chr5	GH05I078809	78809460	78812323	0.52	[{'connected_gene': 'LHFPL2', 'score': 11.11}, {'connected_gene': 'ARSB', 'score': 0.1}, {'connected_gene': 'GC05P078984', 'score': 0.09}]
chr5	GH05I078805	78805648	78805958	0.46	[{'connected_gene': 'LHFPL2', 'score': 11.37}, {'connected_gene': 'GC05P078984', 'score': 0.1}, {'connected_gene': 'ARSB', 'score': 0.09}]
chr5	GH05I078830	78830146	78831222	0.38	[{'connected_gene': 'LHFPL2', 'score': 10.68}, {'connected_gene': 'ARSB', 'score': 5.07}, {'connected_gene': 'GC05P078984', 'score': 0.1}]
chr5	GH05I078803	78803438	78803587	0.2	[{'connected_gene': 'LHFPL2', 'score': 11.78}, {'connected_gene': 'GC05P078984', 'score': 0.09}, {'connected_gene': 'ARSB', 'score': 0.09}]
chr5	GH05I078503	78503802	78512253	1.7	[{'connected_gene': 'PIR51536', 'score': 550.77}, {'connected_gene': 'TBCA', 'score': 10.5}, {'connected_gene': 'LHFPL2', 'score': 9.34}, {'connected_gene': 'SCAMP1-AS1', 'score': 8.71}, {'connected_gene': 'SCAMP1', 'score': 7.18}, {'connected_gene': 'ARSB', 'score': 2.98}, {'connected_gene': 'AP3B1', 'score': 2.85}]
chr5	GH05I078927	78927287	78928407	1.04	[{'connected_gene': 'GC05P078984', 'score': 0.22}, {'connected_gene': 'ARSB', 'score': 0.22}, {'connected_gene': 'LHFPL2', 'score': 0.1}]
chr5	GH05I078975	78975163	78975268	0.44	[{'connected_gene': 'GC05P078984', 'score': 0.44}, {'connected_gene': 'ARSB', 'score': 0.39}, {'connected_gene': 'LHFPL2', 'score': 0.08}]
chr5	GH05I078895	78895918	78896907	0.89	[{'connected_gene': 'GC05P078984', 'score': 0.17}, {'connected_gene': 'ARSB', 'score': 0.16}, {'connected_gene': 'LHFPL2', 'score': 0.13}]