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

Promoter

Chrom	Start	End	Description
chr4	75174180	75174196	CAGE_peak_1_at_EPGN_5end
chr4	75174206	75174226	CAGE_peak_2_at_EPGN_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I074230	74230157	74232558	1.39	[{'connected_gene': 'CXCL8', 'score': 31.3}, {'connected_gene': 'EREG', 'score': 27.47}, {'connected_gene': 'CXCL2', 'score': 21.58}, {'connected_gene': 'CXCL3', 'score': 20.3}, {'connected_gene': 'MTHFD2L', 'score': 3.78}, {'connected_gene': 'GC04P074159', 'score': 0.19}, {'connected_gene': 'EPGN', 'score': 0.18}]
chr4	GH04I074665	74665177	74666013	0.58	[{'connected_gene': 'EPGN', 'score': 10.13}, {'connected_gene': 'MTHFD2L', 'score': 8.97}, {'connected_gene': 'ENSG00000249942', 'score': 0.18}, {'connected_gene': 'BTC', 'score': 0.13}]
chr4	GH04I074667	74667146	74669750	0.63	[{'connected_gene': 'EPGN', 'score': 10.13}, {'connected_gene': 'MTHFD2L', 'score': 8.97}, {'connected_gene': 'AREG', 'score': 5.07}, {'connected_gene': 'ENSG00000249942', 'score': 0.18}, {'connected_gene': 'BTC', 'score': 0.13}]
chr4	GH04I074189	74189401	74189600	0.56	[{'connected_gene': 'EPGN', 'score': 11.28}, {'connected_gene': 'GC04P074159', 'score': 0.31}, {'connected_gene': 'MTHFD2L', 'score': 0.18}]
chr4	GH04I074202	74202144	74202333	0.95	[{'connected_gene': 'EPGN', 'score': 10.98}, {'connected_gene': 'GC04P074159', 'score': 0.26}, {'connected_gene': 'MTHFD2L', 'score': 0.17}]
chr4	GH04I074370	74370552	74371694	0.82	[{'connected_gene': 'EPGN', 'score': 10.04}, {'connected_gene': 'AREG', 'score': 5.12}, {'connected_gene': 'EREG', 'score': 0.44}, {'connected_gene': 'ENSG00000250532', 'score': 0.2}]
chr4	GH04I074373	74373833	74378144	1.24	[{'connected_gene': 'EPGN', 'score': 9.95}, {'connected_gene': 'AREG', 'score': 5.34}, {'connected_gene': 'EREG', 'score': 0.39}, {'connected_gene': 'ENSG00000250532', 'score': 0.21}]
chr4	GH04I074228	74228601	74229961	1.26	[{'connected_gene': 'EPGN', 'score': 10.94}, {'connected_gene': 'CXCL8', 'score': 10.42}, {'connected_gene': 'EREG', 'score': 8.32}, {'connected_gene': 'CXCL2', 'score': 7.2}, {'connected_gene': 'CXCL3', 'score': 6.71}, {'connected_gene': 'MTHFD2L', 'score': 2.8}, {'connected_gene': 'GC04P074159', 'score': 0.2}]
chr4	GH04I074282	74282118	74282469	0.22	[{'connected_gene': 'EPGN', 'score': 11.61}, {'connected_gene': 'CXCL2', 'score': 4.91}, {'connected_gene': 'MTHFD2L', 'score': 1.42}, {'connected_gene': 'LOC105377276', 'score': 0.25}, {'connected_gene': 'GC04P074159', 'score': 0.13}]
chr4	GH04I074617	74617682	74621730	1.02	[{'connected_gene': 'EPGN', 'score': 9.68}, {'connected_gene': 'EREG', 'score': 5.54}, {'connected_gene': 'ENSG00000249942', 'score': 0.29}, {'connected_gene': 'BTC', 'score': 0.09}]
chr4	GH04I074267	74267655	74269343	0.57	[{'connected_gene': 'EPGN', 'score': 10.53}, {'connected_gene': 'EREG', 'score': 4.66}, {'connected_gene': 'CXCL2', 'score': 4.24}, {'connected_gene': 'GC04P074159', 'score': 0.14}, {'connected_gene': 'MTHFD2L', 'score': 0.1}]
chr4	GH04I074283	74283009	74284873	0.8	[{'connected_gene': 'EPGN', 'score': 11.64}, {'connected_gene': 'EREG', 'score': 6.87}, {'connected_gene': 'CXCL2', 'score': 4.91}, {'connected_gene': 'LOC105377276', 'score': 0.25}, {'connected_gene': 'GC04P074159', 'score': 0.13}, {'connected_gene': 'MTHFD2L', 'score': 0.1}]
chr4	GH04I074369	74369862	74370400	0.71	[{'connected_gene': 'EPGN', 'score': 10.04}, {'connected_gene': 'EREG', 'score': 6.17}, {'connected_gene': 'ENSG00000250532', 'score': 0.19}]
chr4	GH04I074307	74307564	74310007	1.07	[{'connected_gene': 'EPGN', 'score': 550.77}, {'connected_gene': 'GC04M074313', 'score': 0.44}, {'connected_gene': 'LOC105377276', 'score': 0.34}]
chr4	GH04I074205	74205102	74208924	1.54	[{'connected_gene': 'EREG', 'score': 20.54}, {'connected_gene': 'CXCL8', 'score': 18.8}, {'connected_gene': 'CXCL2', 'score': 15.53}, {'connected_gene': 'CXCL3', 'score': 14.91}, {'connected_gene': 'EPGN', 'score': 10.99}, {'connected_gene': 'MTHFD2L', 'score': 3.6}, {'connected_gene': 'GC04P074159', 'score': 0.25}]
chr4	GH04I074217	74217258	74217738	0.96	[{'connected_gene': 'EREG', 'score': 10.55}, {'connected_gene': 'CXCL2', 'score': 8.54}, {'connected_gene': 'CXCL8', 'score': 8.49}, {'connected_gene': 'CXCL3', 'score': 6.52}, {'connected_gene': 'MTHFD2L', 'score': 2.68}, {'connected_gene': 'GC04P074159', 'score': 0.22}, {'connected_gene': 'EPGN', 'score': 0.16}]
chr4	GH04I074222	74222170	74225195	0.52	[{'connected_gene': 'EREG', 'score': 5.04}, {'connected_gene': 'GC04P074159', 'score': 0.21}, {'connected_gene': 'EPGN', 'score': 0.18}, {'connected_gene': 'MTHFD2L', 'score': 0.14}]
chr4	GH04I074219	74219323	74220828	0.43	[{'connected_gene': 'EREG', 'score': 5.04}, {'connected_gene': 'GC04P074159', 'score': 0.21}, {'connected_gene': 'EPGN', 'score': 0.17}, {'connected_gene': 'MTHFD2L', 'score': 0.14}]
chr4	GH04I074363	74363731	74369514	2.23	[{'connected_gene': 'EREG', 'score': 556.06}, {'connected_gene': 'EPGN', 'score': 10.05}, {'connected_gene': 'AREG', 'score': 5.53}, {'connected_gene': 'ENSG00000250532', 'score': 0.19}]
chr4	GH04I074319	74319412	74321927	1.37	[{'connected_gene': 'EREG', 'score': 18.08}, {'connected_gene': 'EPGN', 'score': 7.38}, {'connected_gene': 'CXCL2', 'score': 4.9}, {'connected_gene': 'RASSF6', 'score': 4.54}, {'connected_gene': 'GC04M074313', 'score': 0.44}, {'connected_gene': 'LOC105377276', 'score': 0.44}]
chr4	GH04I074311	74311784	74311933	0.76	[{'connected_gene': 'GC04M074313', 'score': 0.77}, {'connected_gene': 'EPGN', 'score': 0.77}, {'connected_gene': 'LOC105377276', 'score': 0.37}]
chr4	GH04I074312	74312290	74314582	0.38	[{'connected_gene': 'GC04M074313', 'score': 550.77}, {'connected_gene': 'EPGN', 'score': 0.44}, {'connected_gene': 'LOC105377276', 'score': 0.37}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000413830	[[75174189, 75174293], [75174809, 75174899], [75177901, 75178022], [75178734, 75178887], [75180296, 75181024]]	[[75174250, 75174293], [75174809, 75174899], [75177901, 75178022], [75178734, 75178887], [75180296, 75180354]]
ENST00000502835	[[75174190, 75174293], [75174809, 75174899], [75177901, 75178022], [75178734, 75178761], [75179845, 75180043], [75180296, 75180387]]	[[75174250, 75174293], [75174809, 75174899], [75177901, 75178022], [75178734, 75178761], [75179845, 75179849]]
ENST00000332112	[[75174203, 75174293], [75174809, 75174872], [75177901, 75178022], [75178734, 75179307]]	[[75174250, 75174293], [75174809, 75174872], [75177901, 75178022], [75178734, 75178909]]
ENST00000514968	[[75174250, 75174293], [75174809, 75174872], [75177901, 75178022], [75178734, 75178761], [75180296, 75180354]]	[[75174250, 75174293], [75174809, 75174872], [75177901, 75178022], [75178734, 75178761], [75180296, 75180354]]
ENST00000509145	[[75174250, 75174293], [75177901, 75178022], [75180296, 75180354]]	[[75174250, 75174293], [75177901, 75178022], [75180296, 75180354]]
ENST00000503098	[[75174250, 75174293], [75174809, 75174899], [75177901, 75178022], [75178734, 75178761], [75180296, 75180354]]	[[75174250, 75174293], [75174809, 75174899], [75177901, 75178022], [75178734, 75178761], [75180296, 75180354]]
ENST00000505212	[[75174250, 75174293], [75174809, 75174872], [75177901, 75178022], [75180296, 75180354]]	[[75174250, 75174293], [75174809, 75174872], [75177901, 75178022], [75180296, 75180354]]
ENST00000502358	[[75174250, 75174293], [75174809, 75174899], [75177901, 75178022], [75180296, 75180354]]	[[75174250, 75174293], [75174809, 75174899], [75177901, 75178022], [75180296, 75180354]]
ENST00000446430	[[75174813, 75174872], [75177901, 75178022], [75178734, 75178887], [75180296, 75180701]]	[[75174813, 75174872], [75177901, 75178022], [75178734, 75178887], [75180296, 75180354]]
NR_073117	[[75174186, 75174293], [75177901, 75178022], [75180296, 75182520]]	None
NM_001270993	[[75174186, 75174293], [75174809, 75174872], [75177901, 75178022], [75180296, 75182520]]	[[75174250, 75174293], [75174809, 75174872], [75177901, 75178022], [75180296, 75180354]]
NM_001270991	[[75174186, 75174293], [75174809, 75174872], [75177901, 75178022], [75178734, 75178761], [75180296, 75182520]]	[[75174250, 75174293], [75174809, 75174872], [75177901, 75178022], [75178734, 75178761], [75180296, 75180354]]
NM_001270992	[[75174186, 75174293], [75174809, 75174899], [75177901, 75178022], [75180296, 75182520]]	[[75174250, 75174293], [75174809, 75174899], [75177901, 75178022], [75180296, 75180354]]
NM_001270990	[[75174186, 75174293], [75174809, 75174899], [75177901, 75178022], [75178734, 75178761], [75180296, 75182520]]	[[75174250, 75174293], [75174809, 75174899], [75177901, 75178022], [75178734, 75178761], [75180296, 75180354]]
NR_073114	[[75174186, 75174293], [75174809, 75174899], [75177901, 75178022], [75178734, 75178761], [75179845, 75180043], [75180296, 75182520]]	None
NM_001270989	[[75174186, 75174293], [75174809, 75174899], [75177901, 75178022], [75178734, 75178887], [75180296, 75182520]]	[[75174250, 75174293], [75174809, 75174899], [75177901, 75178022], [75178734, 75178887], [75180296, 75180354]]