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
ENST00000512375	[[84377084, 84377330], [84378061, 84380297]]	None
ENST00000295491	[[84377117, 84377330], [84378061, 84378111], [84379498, 84379582], [84380892, 84380950], [84382125, 84382185], [84382273, 84383451]]	[[84377230, 84377330], [84378061, 84378111], [84379498, 84379582], [84380892, 84380950], [84382125, 84382185], [84382273, 84382350]]
ENST00000507019	[[84377135, 84377330], [84378061, 84378111], [84380892, 84380950], [84382125, 84382185], [84382273, 84382576]]	[[84377230, 84377330], [84378061, 84378111], [84380892, 84380950], [84382125, 84382185], [84382273, 84382350]]
ENST00000507349	[[84377207, 84377330], [84378061, 84378111], [84382125, 84382185], [84382273, 84382390]]	[[84377230, 84377330], [84378061, 84378111], [84382125, 84382182]]
ENST00000509970	[[84377235, 84377330], [84378061, 84378111], [84380892, 84380950], [84382125, 84382185], [84382273, 84382386], [84388178, 84388657]]	[[84377235, 84377330], [84378061, 84378111], [84380892, 84380950], [84382125, 84382185], [84382273, 84382350]]
ENST00000505719	[[84377242, 84377330], [84378061, 84378111], [84379498, 84379582], [84382125, 84382185], [84382273, 84382481]]	[[84377242, 84377330], [84378061, 84378111], [84379498, 84379582], [84382125, 84382182]]
ENST00000505525	[[84380772, 84380950], [84382125, 84382389]]	None
ENST00000514581	[[84380824, 84380950], [84382125, 84382185], [84382273, 84382388]]	None
ENST00000509571	[[84382345, 84382386], [84390487, 84390888]]	None
NM_001297770	[[84377084, 84377330], [84378061, 84378111], [84382125, 84382185], [84382273, 84382876]]	[[84377230, 84377330], [84378061, 84378111], [84382125, 84382182]]
NM_001297767	[[84377084, 84377330], [84378061, 84378111], [84380892, 84380950], [84382125, 84382185], [84382273, 84382876]]	[[84377230, 84377330], [84378061, 84378111], [84380892, 84380950], [84382125, 84382185], [84382273, 84382350]]
NM_001297769	[[84377084, 84377330], [84378061, 84378111], [84379498, 84379582], [84382125, 84382185], [84382273, 84382876]]	[[84377230, 84377330], [84378061, 84378111], [84379498, 84379582], [84382125, 84382182]]
NM_016067	[[84377084, 84377330], [84378061, 84378111], [84379498, 84379582], [84380892, 84380950], [84382125, 84382185], [84382273, 84382876]]	[[84377230, 84377330], [84378061, 84378111], [84379498, 84379582], [84380892, 84380950], [84382125, 84382185], [84382273, 84382350]]

Promoter

Chrom	Start	End	Description
chr4	84377115	84377126	CAGE_peak_2_at_MRPS18C_5end
chr4	84377198	84377230	CAGE_peak_1_at_MRPS18C_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	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	GH04I083535	83535063	83537824	2.2	[{'connected_gene': 'GPAT3', 'score': 550.77}, {'connected_gene': 'HELQ', 'score': 18.09}, {'connected_gene': 'MRPS18C', 'score': 11.54}, {'connected_gene': 'SEC31A', 'score': 9.79}, {'connected_gene': 'GC04M083639', 'score': 0.15}, {'connected_gene': 'ENSG00000201633', 'score': 0.15}]
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	GH04I083170	83170734	83172100	1.41	[{'connected_gene': 'PLAC8', 'score': 34.18}, {'connected_gene': 'THAP9', 'score': 9.91}, {'connected_gene': 'MRPS18C', 'score': 7.14}, {'connected_gene': 'HPSE', 'score': 4.03}, {'connected_gene': 'COQ2', 'score': 2.48}, {'connected_gene': 'GC04M083225', 'score': 0.23}]
chr4	GH04I083172	83172320	83177306	1.14	[{'connected_gene': 'PLAC8', 'score': 11.8}, {'connected_gene': 'MRPS18C', 'score': 4.44}, {'connected_gene': 'GC04M083225', 'score': 0.23}, {'connected_gene': 'COQ2', 'score': 0.14}]
chr4	GH04I082888	82888606	82893539	2.29	[{'connected_gene': 'SEC31A', 'score': 550.39}, {'connected_gene': 'THAP9-AS1', 'score': 24.1}, {'connected_gene': 'HNRNPD', 'score': 16.81}, {'connected_gene': 'MRPS18C', 'score': 4.4}, {'connected_gene': 'GC04P082899', 'score': 0.44}, {'connected_gene': 'GC04M082849', 'score': 0.29}]
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	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	GH04I083369	83369832	83370600	0.72	[{'connected_gene': 'ENSG00000274154', 'score': 550.77}, {'connected_gene': 'THAP9', 'score': 11.19}, {'connected_gene': 'MRPS18C', 'score': 6.96}, {'connected_gene': 'HPSE', 'score': 5.81}, {'connected_gene': 'PLAC8', 'score': 5.79}, {'connected_gene': 'COQ2', 'score': 2.7}, {'connected_gene': 'LOC100287427', 'score': 0.44}]