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
ENST00000505489	[[84390176, 84390304], [84391355, 84391549], [84393374, 84393441], [84397795, 84397832], [84403306, 84403397], [84444248, 84444501]]	None
ENST00000321945	[[84382091, 84384055], [84384646, 84384761], [84388606, 84388691], [84390184, 84390304], [84391355, 84391549], [84393374, 84393441], [84397795, 84397832], [84403306, 84403397], [84406138, 84406334]]	[[84383621, 84384055], [84384646, 84384761], [84388606, 84388691], [84390184, 84390304], [84391355, 84391549], [84393374, 84393441], [84397795, 84397832], [84403306, 84403397], [84406138, 84406225]]
ENST00000475656	[[84382097, 84384055], [84384646, 84384761], [84388606, 84388691], [84390184, 84390304], [84391355, 84391549], [84397795, 84397832], [84403306, 84403397], [84406138, 84406256]]	[[84391539, 84391549], [84397795, 84397832], [84403306, 84403397], [84406138, 84406225]]
ENST00000506553	[[84383161, 84384055], [84384646, 84384761], [84388606, 84388691], [84390184, 84390304], [84391355, 84391549], [84393374, 84393441], [84397795, 84397832], [84403306, 84403397], [84406442, 84406708]]	[[84383621, 84384055], [84384646, 84384761], [84388606, 84388691], [84390184, 84390304], [84391355, 84391549], [84393374, 84393441], [84397795, 84397832], [84403306, 84403337]]
ENST00000504777	[[84383227, 84384055], [84384646, 84384761], [84388606, 84388691], [84390184, 84391054]]	None
ENST00000511801	[[84391355, 84391549], [84393374, 84393441], [84397795, 84397832], [84403306, 84403397], [84405144, 84405319], [84406138, 84406256]]	[[84405292, 84405319], [84406138, 84406225]]
ENST00000503217	[[84391426, 84391549], [84393374, 84393441], [84397795, 84397832], [84403306, 84403397], [84405976, 84406253]]	None
ENST00000515303	[[84399962, 84401521], [84403306, 84403397], [84406138, 84406218]]	[[84401299, 84401521], [84403306, 84403333]]

Promoter

Chrom	Start	End	Description
chr4	84406242	84406264	CAGE_peak_1_at_FAM175A_5end
chr4	84406307	84406314	CAGE_peak_2_at_FAM175A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I083557	83557601	83558200	0.58	[{'connected_gene': 'GPAT3', 'score': 12.43}, {'connected_gene': 'ABRAXAS1', 'score': 11.62}, {'connected_gene': 'MRPS18C', 'score': 5.24}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4	GH04I083640	83640008	83640157	0.74	[{'connected_gene': 'GPAT3', 'score': 12.37}, {'connected_gene': 'ABRAXAS1', 'score': 11.92}, {'connected_gene': 'NKX6-1', 'score': 9.75}, {'connected_gene': 'GC04M083639', 'score': 0.77}, {'connected_gene': 'ENSG00000201633', 'score': 0.77}, {'connected_gene': 'GC04M083654', 'score': 0.34}]
chr4	GH04I083629	83629524	83632792	1.41	[{'connected_gene': 'GPAT3', 'score': 18.92}, {'connected_gene': 'ABRAXAS1', 'score': 11.83}, {'connected_gene': 'THAP9-AS1', 'score': 4.21}, {'connected_gene': 'HPSE', 'score': 1.88}, {'connected_gene': 'GC04M083639', 'score': 0.44}, {'connected_gene': 'ENSG00000201633', 'score': 0.44}]
chr4	GH04I083567	83567288	83568538	0.2	[{'connected_gene': 'GPAT3', 'score': 12.19}, {'connected_gene': 'ABRAXAS1', 'score': 11.31}, {'connected_gene': 'GC04M083639', 'score': 0.2}, {'connected_gene': 'ENSG00000201633', 'score': 0.2}]
chr4	GH04I083617	83617158	83620136	1.12	[{'connected_gene': 'GPAT3', 'score': 19.48}, {'connected_gene': 'ABRAXAS1', 'score': 11.05}, {'connected_gene': 'GC04M083639', 'score': 0.37}, {'connected_gene': 'ENSG00000201633', 'score': 0.37}]
chr4	GH04I083558	83558348	83559600	1.02	[{'connected_gene': 'GPAT3', 'score': 17.31}, {'connected_gene': 'ABRAXAS1', 'score': 11.61}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4	GH04I083504	83504296	83505303	0.51	[{'connected_gene': 'GPAT3', 'score': 12.31}, {'connected_gene': 'MRPS18C', 'score': 10.98}, {'connected_gene': 'RPL30P5', 'score': 0.77}, {'connected_gene': 'ABRAXAS1', 'score': 0.37}]
chr4	GH04I083486	83486428	83486677	0.79	[{'connected_gene': 'GPAT3', 'score': 11.78}, {'connected_gene': 'SLC25A14P1', 'score': 0.44}, {'connected_gene': 'RPL30P5', 'score': 0.37}, {'connected_gene': 'ABRAXAS1', 'score': 0.28}]
chr4	GH04I083549	83549876	83551596	0.31	[{'connected_gene': 'ABRAXAS1', 'score': 11.99}, {'connected_gene': 'GPAT3', 'score': 0.39}, {'connected_gene': 'GC04M083639', 'score': 0.17}, {'connected_gene': 'ENSG00000201633', 'score': 0.17}]
chr4	GH04I083546	83546800	83547201	0.74	[{'connected_gene': 'ABRAXAS1', 'score': 11.33}, {'connected_gene': 'GPAT3', 'score': 0.39}, {'connected_gene': 'GC04M083639', 'score': 0.17}, {'connected_gene': 'ENSG00000201633', 'score': 0.17}]
chr4	GH04I083090	83090510	83097878	0.64	[{'connected_gene': 'ABRAXAS1', 'score': 4.85}, {'connected_gene': 'GC04P083063', 'score': 0.29}, {'connected_gene': 'PLAC8', 'score': 0.26}]
chr4	GH04I083554	83554776	83555954	0.31	[{'connected_gene': 'ABRAXAS1', 'score': 11.18}, {'connected_gene': 'MRPS18C', 'score': 5.36}, {'connected_gene': 'GPAT3', 'score': 4.95}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4	GH04I083542	83542990	83544983	0.74	[{'connected_gene': 'ABRAXAS1', 'score': 11.74}, {'connected_gene': 'MRPS18C', 'score': 9.2}, {'connected_gene': 'HELQ', 'score': 6.58}, {'connected_gene': 'GPAT3', 'score': 0.44}, {'connected_gene': 'GC04M083639', 'score': 0.16}, {'connected_gene': 'ENSG00000201633', 'score': 0.16}]
chr4	GH04I083484	83484001	83486276	2.04	[{'connected_gene': 'ABRAXAS1', 'score': 554.94}, {'connected_gene': 'HELQ', 'score': 15.5}, {'connected_gene': 'MRPS18C', 'score': 12.23}, {'connected_gene': 'SEC31A', 'score': 12.17}, {'connected_gene': 'GPAT3', 'score': 11.77}, {'connected_gene': 'SLC25A14P1', 'score': 0.44}, {'connected_gene': 'RPL30P5', 'score': 0.37}]
chr4	GH04I083547	83547602	83549430	1.64	[{'connected_gene': 'ABRAXAS1', 'score': 11.99}, {'connected_gene': 'HPSE', 'score': 9.16}, {'connected_gene': 'GPAT3', 'score': 6.51}, {'connected_gene': 'MRPS18C', 'score': 5.06}, {'connected_gene': 'PLAC8', 'score': 3.8}, {'connected_gene': 'COQ2', 'score': 2.17}, {'connected_gene': 'HELQ', 'score': 1.94}, {'connected_gene': 'GC04M083639', 'score': 0.17}, {'connected_gene': 'ENSG00000201633', 'score': 0.17}]
chr4	GH04I083551	83551865	83553737	1.46	[{'connected_gene': 'ABRAXAS1', 'score': 11.99}, {'connected_gene': 'HPSE', 'score': 8.45}, {'connected_gene': 'MRPS18C', 'score': 5.48}, {'connected_gene': 'PLAC8', 'score': 2.74}, {'connected_gene': 'COQ2', 'score': 2.18}, {'connected_gene': 'HELQ', 'score': 1.9}, {'connected_gene': 'GPAT3', 'score': 0.37}, {'connected_gene': 'GC04M083639', 'score': 0.18}, {'connected_gene': 'ENSG00000201633', 'score': 0.18}]
chr4	GH04I083033	83033922	83036652	2.11	[{'connected_gene': 'COPS4', 'score': 550.77}, {'connected_gene': 'GC04P083035', 'score': 550.77}, {'connected_gene': 'HNRNPD', 'score': 39.25}, {'connected_gene': 'HELQ', 'score': 25.8}, {'connected_gene': 'THAP9-AS1', 'score': 20.74}, {'connected_gene': 'ABRAXAS1', 'score': 19.05}, {'connected_gene': 'HNRNPDL', 'score': 12.77}, {'connected_gene': 'SEC31A', 'score': 10.63}]
chr4	GH04I083254	83254875	83261297	1.35	[{'connected_gene': 'LOC391674', 'score': 19.07}, {'connected_gene': 'HNRNPD', 'score': 16.09}, {'connected_gene': 'HNRNPDL', 'score': 15.74}, {'connected_gene': 'SEC31A', 'score': 13.4}, {'connected_gene': 'HELQ', 'score': 12.71}, {'connected_gene': 'THAP9-AS1', 'score': 11.04}, {'connected_gene': 'ABRAXAS1', 'score': 9.73}, {'connected_gene': 'PLAC8', 'score': 7.67}, {'connected_gene': 'PIR52005', 'score': 0.44}, {'connected_gene': 'GC04P083274', 'score': 0.37}, {'connected_gene': 'COQ2', 'score': 0.31}]
chr4	GH04I083009	83009174	83014459	2.1	[{'connected_gene': 'LIN54', 'score': 550.77}, {'connected_gene': 'HNRNPD', 'score': 44.31}, {'connected_gene': 'THAP9-AS1', 'score': 39.41}, {'connected_gene': 'HELQ', 'score': 28.3}, {'connected_gene': 'SEC31A', 'score': 16.89}, {'connected_gene': 'ABRAXAS1', 'score': 11.52}, {'connected_gene': 'RNU6-615P', 'score': 0.44}]
chr4	GH04I083454	83454253	83458036	2.11	[{'connected_gene': 'HELQ', 'score': 586.08}, {'connected_gene': 'MRPS18C', 'score': 562.51}, {'connected_gene': 'ABRAXAS1', 'score': 19.21}, {'connected_gene': 'SEC31A', 'score': 18.7}, {'connected_gene': 'HPSE', 'score': 10.42}, {'connected_gene': 'GPAT3', 'score': 10.11}, {'connected_gene': 'SLC25A14P1', 'score': 0.34}]
chr4	GH04I083516	83516148	83516317	0.2	[{'connected_gene': 'HELQ', 'score': 9.54}, {'connected_gene': 'MRPS18C', 'score': 6.81}, {'connected_gene': 'ABRAXAS1', 'score': 0.44}, {'connected_gene': 'RPL30P5', 'score': 0.39}]
chr4	GH04I083334	83334261	83335468	1.91	[{'connected_gene': 'HPSE', 'score': 555.94}, {'connected_gene': 'HNRNPD', 'score': 22.28}, {'connected_gene': 'HELQ', 'score': 17.24}, {'connected_gene': 'SEC31A', 'score': 16.8}, {'connected_gene': 'ABRAXAS1', 'score': 11.57}, {'connected_gene': 'LOC105377313', 'score': 0.28}]
chr4	GH04I082898	82898105	82902721	2.3	[{'connected_gene': 'THAP9-AS1', 'score': 599.33}, {'connected_gene': 'GC04P082899', 'score': 550.77}, {'connected_gene': 'SEC31A', 'score': 550.77}, {'connected_gene': 'THAP9', 'score': 550.77}, {'connected_gene': 'HNRNPD', 'score': 44.59}, {'connected_gene': 'HELQ', 'score': 31.24}, {'connected_gene': 'ABRAXAS1', 'score': 10.85}]
chr4	GH04I083477	83477472	83477837	0.22	[{'connected_gene': 'SLC25A14P1', 'score': 550.77}, {'connected_gene': 'MRPS18C', 'score': 11.72}, {'connected_gene': 'GPAT3', 'score': 10.76}, {'connected_gene': 'RPL30P5', 'score': 0.31}, {'connected_gene': 'ABRAXAS1', 'score': 0.25}]
chr4	GH04I084492	84492004	84494313	0.56	[{'connected_gene': 'GC04P084495', 'score': 550.77}, {'connected_gene': 'ABRAXAS1', 'score': 10.26}, {'connected_gene': 'NKX6-1', 'score': 7.8}, {'connected_gene': 'GC04P084474', 'score': 0.37}]