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
ENST00000449082	[[38738292, 38740053], [38743329, 38743600], [38748769, 38748874], [38750968, 38751106], [38752334, 38752388], [38753651, 38753936], [38755448, 38755571], [38760143, 38760317], [38763748, 38763903], [38764920, 38765044], [38766664, 38766805], [38768096, 38768543], [38770032, 38770392], [38781005, 38781179], [38783781, 38784020], [38791563, 38791675], [38793709, 38794003], [38797278, 38797449], [38798164, 38798362], [38798508, 38798650], [38802171, 38802238], [38802682, 38802874], [38804995, 38805087], [38812769, 38812898], [38830446, 38830527], [38833540, 38833659], [38835231, 38835501]]	[[38738839, 38740053], [38743329, 38743600], [38748769, 38748874], [38750968, 38751106], [38752334, 38752388], [38753651, 38753936], [38755448, 38755571], [38760143, 38760317], [38763748, 38763903], [38764920, 38765044], [38766664, 38766805], [38768096, 38768543], [38770032, 38770392], [38781005, 38781179], [38783781, 38784020], [38791563, 38791675], [38793709, 38794003], [38797278, 38797449], [38798164, 38798362], [38798508, 38798650], [38802171, 38802238], [38802682, 38802874], [38804995, 38805087], [38812769, 38812898], [38830446, 38830527], [38833540, 38833659], [38835231, 38835501]]
NM_006514	[[38738836, 38740053], [38743329, 38743600], [38748769, 38748874], [38750968, 38751106], [38752334, 38752388], [38753651, 38753936], [38755448, 38755571], [38760143, 38760317], [38763748, 38763903], [38764920, 38765044], [38766664, 38766805], [38768096, 38768543], [38770032, 38770392], [38781005, 38781179], [38783781, 38784020], [38791563, 38791675], [38793709, 38794003], [38797278, 38797449], [38798164, 38798362], [38798508, 38798650], [38802171, 38802238], [38802682, 38802874], [38804995, 38805087], [38812769, 38812898], [38830446, 38830527], [38833540, 38833659], [38835231, 38835501]]	[[38738839, 38740053], [38743329, 38743600], [38748769, 38748874], [38750968, 38751106], [38752334, 38752388], [38753651, 38753936], [38755448, 38755571], [38760143, 38760317], [38763748, 38763903], [38764920, 38765044], [38766664, 38766805], [38768096, 38768543], [38770032, 38770392], [38781005, 38781179], [38783781, 38784020], [38791563, 38791675], [38793709, 38794003], [38797278, 38797449], [38798164, 38798362], [38798508, 38798650], [38802171, 38802238], [38802682, 38802874], [38804995, 38805087], [38812769, 38812898], [38830446, 38830527], [38833540, 38833659], [38835231, 38835501]]
NM_001293306	[[38738836, 38740053], [38743329, 38743600], [38748769, 38748874], [38750968, 38751106], [38752334, 38752388], [38753651, 38753936], [38755448, 38755571], [38760143, 38760317], [38763748, 38763903], [38764920, 38765044], [38766664, 38766802], [38768096, 38768543], [38770032, 38770392], [38781005, 38781179], [38783781, 38784020], [38791563, 38791675], [38793709, 38794003], [38797278, 38797449], [38798164, 38798362], [38798508, 38798650], [38802171, 38802238], [38802682, 38802874], [38804995, 38805087], [38812769, 38812898], [38830446, 38830527], [38833540, 38833659], [38835231, 38835501]]	[[38738839, 38740053], [38743329, 38743600], [38748769, 38748874], [38750968, 38751106], [38752334, 38752388], [38753651, 38753936], [38755448, 38755571], [38760143, 38760317], [38763748, 38763903], [38764920, 38765044], [38766664, 38766802], [38768096, 38768543], [38770032, 38770392], [38781005, 38781179], [38783781, 38784020], [38791563, 38791675], [38793709, 38794003], [38797278, 38797449], [38798164, 38798362], [38798508, 38798650], [38802171, 38802238], [38802682, 38802874], [38804995, 38805087], [38812769, 38812898], [38830446, 38830527], [38833540, 38833659], [38835231, 38835501]]
NM_001293307	[[38738836, 38740053], [38743329, 38743600], [38748769, 38748874], [38750968, 38751106], [38752334, 38752388], [38753651, 38753936], [38755448, 38755571], [38760143, 38760317], [38763748, 38763903], [38764920, 38765044], [38766664, 38766805], [38768096, 38768543], [38770032, 38770392], [38781005, 38781179], [38783781, 38784020], [38791563, 38791675], [38797278, 38797449], [38798164, 38798362], [38798508, 38798650], [38802171, 38802238], [38802682, 38802874], [38804995, 38805087], [38812769, 38812898], [38830446, 38830527], [38833540, 38833659], [38835231, 38835501]]	[[38738839, 38740053], [38743329, 38743600], [38748769, 38748874], [38750968, 38751106], [38752334, 38752388], [38753651, 38753936], [38755448, 38755571], [38760143, 38760317], [38763748, 38763903], [38764920, 38765044], [38766664, 38766805], [38768096, 38768543], [38770032, 38770392], [38781005, 38781179], [38783781, 38784020], [38791563, 38791675], [38797278, 38797449], [38798164, 38798362], [38798508, 38798650], [38802171, 38802238], [38802682, 38802874], [38804995, 38805087], [38812769, 38812898], [38830446, 38830527], [38833540, 38833659], [38835231, 38835501]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I038722	38722136	38726916	1.37	[{'connected_gene': 'GORASP1', 'score': 14.45}, {'connected_gene': 'SNORA62', 'score': 13.1}, {'connected_gene': 'ENSG00000231243', 'score': 10.67}, {'connected_gene': 'RNU6-1227P', 'score': 10.07}, {'connected_gene': 'OXSR1', 'score': 9.7}, {'connected_gene': 'SCN10A', 'score': 0.2}, {'connected_gene': 'SCN5A', 'score': 0.19}]
chr3	GH03I038651	38651310	38651459	0.79	[{'connected_gene': 'SCN5A', 'score': 550.77}, {'connected_gene': 'SCN10A', 'score': 0.11}]
chr3	GH03I038649	38649400	38650001	2.02	[{'connected_gene': 'SCN5A', 'score': 550.77}, {'connected_gene': 'SCN10A', 'score': 0.11}]
chr3	GH03I039274	39274476	39274824	0.53	[{'connected_gene': 'XIRP1', 'score': 11.81}, {'connected_gene': 'TTC21A', 'score': 10.76}, {'connected_gene': 'GORASP1', 'score': 10.76}, {'connected_gene': 'CCR8', 'score': 10.15}, {'connected_gene': 'HNRNPA1P21', 'score': 10.14}, {'connected_gene': 'RNU6-1227P', 'score': 8.73}, {'connected_gene': 'MOBP', 'score': 7.22}, {'connected_gene': 'SCN10A', 'score': 3.91}, {'connected_gene': 'CX3CR1', 'score': 0.44}, {'connected_gene': 'LOC102724104', 'score': 0.26}]
chr3	GH03I039271	39271026	39274400	1.06	[{'connected_gene': 'XIRP1', 'score': 11.81}, {'connected_gene': 'TTC21A', 'score': 10.76}, {'connected_gene': 'GORASP1', 'score': 10.75}, {'connected_gene': 'CCR8', 'score': 10.15}, {'connected_gene': 'HNRNPA1P21', 'score': 10.14}, {'connected_gene': 'RNU6-1227P', 'score': 8.73}, {'connected_gene': 'RPSA', 'score': 6.47}, {'connected_gene': 'CSRNP1', 'score': 5.41}, {'connected_gene': 'SCN10A', 'score': 1.51}, {'connected_gene': 'WDR48', 'score': 1.37}, {'connected_gene': 'CX3CR1', 'score': 0.44}, {'connected_gene': 'LOC102724104', 'score': 0.26}]
chr3	GH03I038738	38738730	38738879	0.57	[{'connected_gene': 'RNU6-1227P', 'score': 10.0}, {'connected_gene': 'ENSG00000231243', 'score': 9.97}, {'connected_gene': 'SCN10A', 'score': 0.22}, {'connected_gene': 'SCN5A', 'score': 0.17}]
chr3	GH03I038527	38527146	38527730	0.47	[{'connected_gene': 'PIR61865', 'score': 550.77}, {'connected_gene': 'PIR49321', 'score': 550.77}, {'connected_gene': 'PIR31167', 'score': 550.77}, {'connected_gene': 'GC03P038527', 'score': 550.77}, {'connected_gene': 'PIR44083', 'score': 550.77}, {'connected_gene': 'PIR53009', 'score': 550.77}, {'connected_gene': 'RPL18AP7', 'score': 550.77}, {'connected_gene': 'EXOG', 'score': 13.51}, {'connected_gene': 'SCN10A', 'score': 5.03}, {'connected_gene': 'SLC22A14', 'score': 4.8}, {'connected_gene': 'SCN11A', 'score': 1.51}]