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
ENST00000523949	[[26240712, 26240746], [26248758, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26362822, 26363152]]	[[26240712, 26240746], [26248758, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26362822, 26362835]]
ENST00000380629	[[26240413, 26240746], [26248758, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26267879, 26270645]]	[[26240646, 26240746], [26248758, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26267879, 26267928]]
ENST00000520077	[[26240569, 26240746], [26265515, 26265619], [26265742, 26265892], [26267879, 26268370]]	[[26240646, 26240746], [26265515, 26265598]]
ENST00000523515	[[26240893, 26240994], [26248758, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26267879, 26268182]]	[[26248778, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26267879, 26267928]]
ENST00000520409	[[26240930, 26241012], [26248758, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26267879, 26268025]]	[[26248778, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26267879, 26267928]]
ENST00000518611	[[26247877, 26248033], [26248758, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26267879, 26268564]]	[[26248778, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26267879, 26267928]]
ENST00000521254	[[26253132, 26253224], [26265515, 26265619], [26265742, 26265892], [26267879, 26268035]]	None
NM_004331	[[26240522, 26240746], [26248758, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26267879, 26270644]]	[[26240646, 26240746], [26248758, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26267879, 26267928]]
NM_001330491	[[26247905, 26248033], [26248758, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26267879, 26270645]]	[[26248778, 26248942], [26252745, 26252818], [26265515, 26265619], [26265742, 26265892], [26267879, 26267928]]

Promoter

Chrom	Start	End	Description
chr8	26240542	26240631	CAGE_peak_1_at_BNIP3L_5end
chr8	26240663	26240664	CAGE_peak_10_at_BNIP3L_5end
chr8	26240666	26240677	CAGE_peak_3_at_BNIP3L_5end
chr8	26247896	26247981	CAGE_peak_2_at_BNIP3L_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr8	GH08I026335	26335001	26335200	0.2	[{'connected_gene': 'PPP2R2A', 'score': 11.21}, {'connected_gene': 'SDAD1P1', 'score': 10.97}, {'connected_gene': 'BNIP3L', 'score': 10.97}, {'connected_gene': 'PNMA2', 'score': 10.0}, {'connected_gene': 'DPYSL2', 'score': 10.0}, {'connected_gene': 'GC08M026286', 'score': 0.39}]
chr8	GH08I026370	26370596	26370810	0.4	[{'connected_gene': 'PPP2R2A', 'score': 10.61}, {'connected_gene': 'PNMA2', 'score': 10.33}, {'connected_gene': 'DPYSL2', 'score': 10.33}, {'connected_gene': 'BNIP3L', 'score': 0.39}, {'connected_gene': 'GC08M026286', 'score': 0.34}]
chr8	GH08I026351	26351480	26354127	0.59	[{'connected_gene': 'SDAD1P1', 'score': 26.65}, {'connected_gene': 'GC08M026286', 'score': 0.77}, {'connected_gene': 'BNIP3L', 'score': 0.29}, {'connected_gene': 'PPP2R2A', 'score': 0.21}]
chr8	GH08I026356	26356265	26356414	0.2	[{'connected_gene': 'SDAD1P1', 'score': 10.92}, {'connected_gene': 'BNIP3L', 'score': 10.92}, {'connected_gene': 'PNMA2', 'score': 10.43}, {'connected_gene': 'DPYSL2', 'score': 10.43}, {'connected_gene': 'GC08M026286', 'score': 0.44}, {'connected_gene': 'PPP2R2A', 'score': 0.21}]
chr8	GH08I026403	26403905	26405929	0.76	[{'connected_gene': 'SDAD1P1', 'score': 11.33}, {'connected_gene': 'BNIP3L', 'score': 11.33}, {'connected_gene': 'PNMA2', 'score': 10.13}, {'connected_gene': 'DPYSL2', 'score': 10.13}, {'connected_gene': 'ENSG00000253430', 'score': 0.37}]
chr8	GH08I026445	26445402	26446800	0.73	[{'connected_gene': 'SDAD1P1', 'score': 11.24}, {'connected_gene': 'BNIP3L', 'score': 11.24}, {'connected_gene': 'LOC105379337', 'score': 0.44}, {'connected_gene': 'DPYSL2', 'score': 0.2}]
chr8	GH08I026382	26382093	26386187	2.07	[{'connected_gene': 'SDAD1P1', 'score': 579.23}, {'connected_gene': 'BNIP3L', 'score': 550.77}, {'connected_gene': 'ENSG00000253430', 'score': 0.28}]
chr8	GH08I026386	26386984	26387685	0.56	[{'connected_gene': 'SDAD1P1', 'score': 28.71}, {'connected_gene': 'BNIP3L', 'score': 0.77}, {'connected_gene': 'ENSG00000253430', 'score': 0.28}]
chr8	GH08I026329	26329121	26332246	1.29	[{'connected_gene': 'SDAD1P1', 'score': 26.86}, {'connected_gene': 'PPP2R2A', 'score': 11.34}, {'connected_gene': 'ENSG00000253476', 'score': 11.23}, {'connected_gene': 'BNIP3L', 'score': 10.95}, {'connected_gene': 'PNMA2', 'score': 10.0}, {'connected_gene': 'DPYSL2', 'score': 10.0}, {'connected_gene': 'GC08M026286', 'score': 0.37}]
chr8	GH08I026374	26374000	26374765	1.27	[{'connected_gene': 'SDAD1P1', 'score': 31.89}, {'connected_gene': 'PPP2R2A', 'score': 10.22}, {'connected_gene': 'BNIP3L', 'score': 0.44}, {'connected_gene': 'GC08M026286', 'score': 0.31}]
chr8	GH08I026447	26447801	26453168	1.78	[{'connected_gene': 'SDAD1P1', 'score': 15.9}, {'connected_gene': 'PNMA2', 'score': 11.4}, {'connected_gene': 'DPYSL2', 'score': 11.4}, {'connected_gene': 'BNIP3L', 'score': 11.24}, {'connected_gene': 'LOC105379337', 'score': 0.44}]
chr8	GH08I027238	27238402	27240510	0.2	[{'connected_gene': 'ADRA1A', 'score': 6.25}, {'connected_gene': 'BNIP3L', 'score': 5.24}, {'connected_gene': 'GC08P027227', 'score': 0.39}, {'connected_gene': 'STMN4', 'score': 0.37}]
chr8	GH08I026584	26584817	26592313	0.76	[{'connected_gene': 'PNMA2', 'score': 18.9}, {'connected_gene': 'DPYSL2', 'score': 15.86}, {'connected_gene': 'SDAD1P1', 'score': 15.05}, {'connected_gene': 'BNIP3L', 'score': 9.62}, {'connected_gene': 'PSME2P5', 'score': 0.26}, {'connected_gene': 'GC08M026683', 'score': 0.15}]
chr8	GH08I026607	26607202	26618400	1.69	[{'connected_gene': 'PNMA2', 'score': 7.85}, {'connected_gene': 'DPYSL2', 'score': 6.04}, {'connected_gene': 'SDAD1P1', 'score': 5.08}, {'connected_gene': 'PPP2R2A', 'score': 1.89}, {'connected_gene': 'BNIP3L', 'score': 1.74}, {'connected_gene': 'PSME2P5', 'score': 0.2}, {'connected_gene': 'GC08M026683', 'score': 0.19}]
chr8	GH08I026456	26456205	26456354	0.51	[{'connected_gene': 'PNMA2', 'score': 15.73}, {'connected_gene': 'DPYSL2', 'score': 11.11}, {'connected_gene': 'LOC105379337', 'score': 0.37}, {'connected_gene': 'BNIP3L', 'score': 0.19}]
chr8	GH08I026457	26457009	26458749	1.31	[{'connected_gene': 'PNMA2', 'score': 16.91}, {'connected_gene': 'DPYSL2', 'score': 11.11}, {'connected_gene': 'LOC105379337', 'score': 0.37}, {'connected_gene': 'BNIP3L', 'score': 0.19}]
chr8	GH08I026480	26480205	26482837	0.59	[{'connected_gene': 'PNMA2', 'score': 8.19}, {'connected_gene': 'SDAD1P1', 'score': 5.97}, {'connected_gene': 'DPYSL2', 'score': 0.29}, {'connected_gene': 'LOC105379337', 'score': 0.26}, {'connected_gene': 'BNIP3L', 'score': 0.15}]
chr8	GH08I026463	26463334	26464093	0.43	[{'connected_gene': 'PNMA2', 'score': 15.73}, {'connected_gene': 'LOC105379337', 'score': 0.34}, {'connected_gene': 'DPYSL2', 'score': 0.23}, {'connected_gene': 'BNIP3L', 'score': 0.18}]
chr8	GH08I026464	26464425	26468166	1.35	[{'connected_gene': 'PNMA2', 'score': 18.44}, {'connected_gene': 'LOC105379337', 'score': 0.31}, {'connected_gene': 'DPYSL2', 'score': 0.25}, {'connected_gene': 'BNIP3L', 'score': 0.18}]
chr8	GH08I026424	26424742	26426897	0.43	[{'connected_gene': 'PNMA2', 'score': 6.09}, {'connected_gene': 'ENSG00000253430', 'score': 0.77}, {'connected_gene': 'LOC100289047', 'score': 0.44}, {'connected_gene': 'BNIP3L', 'score': 0.26}]
chr8	GH08I026462	26462105	26462254	0.43	[{'connected_gene': 'LOC105379337', 'score': 0.34}, {'connected_gene': 'DPYSL2', 'score': 0.23}, {'connected_gene': 'BNIP3L', 'score': 0.18}]
chr8	GH08I026436	26436624	26442799	1.03	[{'connected_gene': 'LOC105379337', 'score': 556.1}, {'connected_gene': 'SDAD1P1', 'score': 17.38}, {'connected_gene': 'PNMA2', 'score': 16.15}, {'connected_gene': 'DPYSL2', 'score': 11.51}, {'connected_gene': 'BNIP3L', 'score': 11.26}, {'connected_gene': 'LOC100289047', 'score': 0.77}]
chr8	GH08I026418	26418513	26420582	0.4	[{'connected_gene': 'ENSG00000253430', 'score': 0.77}, {'connected_gene': 'SDAD1P1', 'score': 0.28}, {'connected_gene': 'BNIP3L', 'score': 0.28}]
chr8	GH08I026348	26348938	26351112	0.46	[{'connected_gene': 'GC08M026286', 'score': 550.77}, {'connected_gene': 'SDAD1P1', 'score': 18.65}, {'connected_gene': 'GNRH1', 'score': 10.24}, {'connected_gene': 'BNIP3L', 'score': 0.29}, {'connected_gene': 'PPP2R2A', 'score': 0.22}]
chr8	GH08I026420	26420990	26423420	0.31	[{'connected_gene': 'ENSG00000253430', 'score': 550.77}, {'connected_gene': 'SDAD1P1', 'score': 31.86}, {'connected_gene': 'PNMA2', 'score': 10.9}, {'connected_gene': 'DPYSL2', 'score': 10.9}, {'connected_gene': 'BNIP3L', 'score': 0.28}]