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
ENST00000368407	[[155099935, 155100545], [155103814, 155104110], [155105978, 155106044], [155106205, 155106256], [155106430, 155107333]]	[[155100453, 155100545], [155103814, 155104110], [155105978, 155106044], [155106205, 155106256], [155106430, 155106543]]
ENST00000368406	[[155100351, 155100545], [155103814, 155104110], [155106205, 155106256], [155106430, 155107333]]	[[155100453, 155100545], [155103814, 155104110], [155106205, 155106256], [155106430, 155106543]]
ENST00000469878	[[155100363, 155100545], [155103814, 155104110], [155105978, 155106256], [155106430, 155106962]]	None
ENST00000474413	[[155102037, 155102354], [155103814, 155104110], [155105978, 155106044], [155106205, 155106256], [155106430, 155106783]]	None
ENST00000497282	[[155103679, 155104110], [155105978, 155106044], [155106205, 155106256], [155106430, 155106601]]	None
NM_182685	[[155100348, 155100545], [155103814, 155104110], [155106205, 155106256], [155106430, 155107386]]	[[155100453, 155100545], [155103814, 155104110], [155106205, 155106256], [155106430, 155106543]]
NM_004428	[[155100348, 155100545], [155103814, 155104110], [155105978, 155106044], [155106205, 155106256], [155106430, 155107386]]	[[155100453, 155100545], [155103814, 155104110], [155105978, 155106044], [155106205, 155106256], [155106430, 155106543]]

Promoter

Chrom	Start	End	Description
chr1	155099927	155099964	CAGE_peak_4_at_EFNA1_5end
chr1	155100342	155100359	CAGE_peak_1_at_EFNA1_5end
chr1	155100366	155100377	CAGE_peak_2_at_EFNA1_5end
chr1	155100387	155100398	CAGE_peak_3_at_EFNA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I155084	155084020	155086534	1.78	[{'connected_gene': 'THBS3', 'score': 20.77}, {'connected_gene': 'ADAM15', 'score': 17.47}, {'connected_gene': 'UBAP2L', 'score': 15.69}, {'connected_gene': 'GON4L', 'score': 14.4}, {'connected_gene': 'KHDC4', 'score': 13.29}, {'connected_gene': 'EFNA1', 'score': 12.82}, {'connected_gene': 'SLC50A1', 'score': 11.92}, {'connected_gene': 'ENSG00000271267', 'score': 11.19}, {'connected_gene': 'KRTCAP2', 'score': 11.06}, {'connected_gene': 'MUC1', 'score': 11.03}, {'connected_gene': 'ENSG00000231064', 'score': 11.03}, {'connected_gene': 'MTX1', 'score': 11.02}, {'connected_gene': 'DCST1-AS1', 'score': 11.0}, {'connected_gene': 'GBAP1', 'score': 9.95}, {'connected_gene': 'DAP3', 'score': 4.72}, {'connected_gene': 'PBXIP1', 'score': 4.34}, {'connected_gene': 'EFNA3', 'score': 0.44}, {'connected_gene': 'ENSG00000251246', 'score': 0.34}, {'connected_gene': 'GC01P155124', 'score': 0.28}]
chr1	GH01I155313	155313740	155314141	0.34	[{'connected_gene': 'HCN3', 'score': 11.83}, {'connected_gene': 'SCAMP3', 'score': 11.54}, {'connected_gene': 'FAM189B', 'score': 11.53}, {'connected_gene': 'MIR555', 'score': 10.65}, {'connected_gene': 'ASH1L', 'score': 10.43}, {'connected_gene': 'DCST1', 'score': 1.34}, {'connected_gene': 'EFNA1', 'score': 1.21}, {'connected_gene': 'RUSC1', 'score': 0.44}, {'connected_gene': 'FDPS', 'score': 0.44}, {'connected_gene': 'GC01M155270', 'score': 0.34}]
chr1	GH01I155132	155132826	155138156	2.3	[{'connected_gene': 'SLC50A1', 'score': 550.77}, {'connected_gene': 'GBAP1', 'score': 22.27}, {'connected_gene': 'SYT11', 'score': 14.22}, {'connected_gene': 'ENSG00000231064', 'score': 11.24}, {'connected_gene': 'TRIM46', 'score': 11.15}, {'connected_gene': 'DCST1-AS1', 'score': 10.48}, {'connected_gene': 'ADAM15', 'score': 10.46}, {'connected_gene': 'POU5F1P4', 'score': 5.85}, {'connected_gene': 'DPM3', 'score': 0.44}, {'connected_gene': 'EFNA1', 'score': 0.44}]
chr1	GH01I155091	155091167	155092062	1.19	[{'connected_gene': 'EFNA1', 'score': 12.83}, {'connected_gene': 'SLC50A1', 'score': 11.95}, {'connected_gene': 'KRTCAP2', 'score': 11.07}, {'connected_gene': 'MUC1', 'score': 11.04}, {'connected_gene': 'ENSG00000231064', 'score': 11.04}, {'connected_gene': 'MTX1', 'score': 11.02}, {'connected_gene': 'THBS3', 'score': 11.02}, {'connected_gene': 'DCST1-AS1', 'score': 10.97}, {'connected_gene': 'ADAM15', 'score': 10.92}, {'connected_gene': 'EFNA3', 'score': 0.39}, {'connected_gene': 'GC01P155124', 'score': 0.31}]
chr1	GH01I155123	155123683	155132362	2.56	[{'connected_gene': 'EFNA1', 'score': 564.37}, {'connected_gene': 'KHDC4', 'score': 54.29}, {'connected_gene': 'GON4L', 'score': 50.87}, {'connected_gene': 'CLK2', 'score': 49.54}, {'connected_gene': 'UBAP2L', 'score': 38.75}, {'connected_gene': 'MSTO1', 'score': 37.46}, {'connected_gene': 'ENSG00000271267', 'score': 37.25}, {'connected_gene': 'MSTO2P', 'score': 31.07}, {'connected_gene': 'LOC101928120', 'score': 29.75}, {'connected_gene': 'RUSC1-AS1', 'score': 25.38}, {'connected_gene': 'SHC1', 'score': 23.56}, {'connected_gene': 'THBS3', 'score': 23.26}, {'connected_gene': 'LMNA', 'score': 19.89}, {'connected_gene': 'KRTCAP2', 'score': 18.9}, {'connected_gene': 'ASH1L-AS1', 'score': 18.85}, {'connected_gene': 'PYGO2', 'score': 15.25}, {'connected_gene': 'GBAP1', 'score': 14.62}, {'connected_gene': 'FLAD1', 'score': 13.41}, {'connected_gene': 'SSR2', 'score': 12.44}, {'connected_gene': 'DPM3', 'score': 12.08}, {'connected_gene': 'YY1AP1', 'score': 10.83}, {'connected_gene': 'ATP8B2', 'score': 10.44}, {'connected_gene': 'CKS1B', 'score': 10.16}, {'connected_gene': 'ADAM15', 'score': 7.73}, {'connected_gene': 'GBA', 'score': 6.1}, {'connected_gene': 'POU5F1P4', 'score': 4.36}, {'connected_gene': 'PKLR', 'score': 1.71}, {'connected_gene': 'EFNA4', 'score': 1.35}, {'connected_gene': 'SLC50A1', 'score': 0.44}]
chr1	GH01I155094	155094201	155094654	1.22	[{'connected_gene': 'EFNA1', 'score': 12.87}, {'connected_gene': 'ENSG00000251246', 'score': 11.8}, {'connected_gene': 'EFNA4', 'score': 11.8}, {'connected_gene': 'SLC50A1', 'score': 11.73}, {'connected_gene': 'KRTCAP2', 'score': 11.58}, {'connected_gene': 'MUC1', 'score': 11.55}, {'connected_gene': 'ENSG00000231064', 'score': 11.54}, {'connected_gene': 'MTX1', 'score': 11.53}, {'connected_gene': 'THBS3', 'score': 11.53}, {'connected_gene': 'TRIM46', 'score': 11.33}, {'connected_gene': 'DCST1-AS1', 'score': 11.07}, {'connected_gene': 'ADAM15', 'score': 11.04}, {'connected_gene': 'EFNA3', 'score': 0.37}, {'connected_gene': 'GC01P155124', 'score': 0.31}]
chr1	GH01I155121	155121065	155121214	0.51	[{'connected_gene': 'GC01P155124', 'score': 550.77}, {'connected_gene': 'ENSG00000202027', 'score': 550.77}, {'connected_gene': 'DCST1-AS1', 'score': 10.92}, {'connected_gene': 'ADAM15', 'score': 10.89}, {'connected_gene': 'GBAP1', 'score': 4.91}, {'connected_gene': 'EFNA1', 'score': 0.44}]