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
chr19	39109817	39109853	CAGE_peak_1_at_EIF3K_5end
chr19	39109858	39109881	CAGE_peak_2_at_EIF3K_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr19	GH19I038312	38312659	38322581	2.82	[{'connected_gene': 'KCNK6', 'score': 556.04}, {'connected_gene': 'YIF1B', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 58.53}, {'connected_gene': 'C19orf33', 'score': 56.77}, {'connected_gene': 'ZNF527', 'score': 55.4}, {'connected_gene': 'ZNF571', 'score': 42.05}, {'connected_gene': 'ZNF573', 'score': 38.29}, {'connected_gene': 'ZFP30', 'score': 31.61}, {'connected_gene': 'ZNF607', 'score': 24.15}, {'connected_gene': 'ZNF793', 'score': 23.0}, {'connected_gene': 'ENSG00000267682', 'score': 19.7}, {'connected_gene': 'CATSPERG', 'score': 19.64}, {'connected_gene': 'ENSG00000269688', 'score': 18.56}, {'connected_gene': 'SPINT2', 'score': 16.45}, {'connected_gene': 'ZNF540', 'score': 15.77}, {'connected_gene': 'ZNF571-AS1', 'score': 13.96}, {'connected_gene': 'ZNF793-AS1', 'score': 13.74}, {'connected_gene': 'ZNF781', 'score': 13.45}, {'connected_gene': 'PPP1R14A', 'score': 11.47}, {'connected_gene': 'ZNF569', 'score': 11.19}, {'connected_gene': 'ZNF570', 'score': 11.1}, {'connected_gene': 'PAK4', 'score': 10.52}, {'connected_gene': 'ENSG00000268756', 'score': 9.86}, {'connected_gene': 'SELENOKP1', 'score': 9.8}, {'connected_gene': 'RASGRP4', 'score': 9.31}, {'connected_gene': 'PSMD8', 'score': 4.7}, {'connected_gene': 'MAP4K1', 'score': 3.67}, {'connected_gene': 'FAM98C', 'score': 1.95}, {'connected_gene': 'EIF3K', 'score': 1.49}]
chr19	GH19I038616	38616178	38620636	2.08	[{'connected_gene': 'EIF3K', 'score': 550.77}, {'connected_gene': 'MAP4K1', 'score': 550.77}, {'connected_gene': 'EID2B', 'score': 28.87}, {'connected_gene': 'ZNF781', 'score': 28.82}, {'connected_gene': 'MED29', 'score': 15.3}, {'connected_gene': 'CAPN12', 'score': 13.54}, {'connected_gene': 'ZNF573', 'score': 12.62}, {'connected_gene': 'HNRNPL', 'score': 12.17}, {'connected_gene': 'DPF1', 'score': 12.03}, {'connected_gene': 'ENSG00000267152', 'score': 11.55}, {'connected_gene': 'RPS16', 'score': 10.98}, {'connected_gene': 'PAK4', 'score': 10.86}, {'connected_gene': 'ACTN4', 'score': 10.39}, {'connected_gene': 'EID2', 'score': 10.08}, {'connected_gene': 'SELENOKP1', 'score': 9.8}, {'connected_gene': 'LGALS7', 'score': 5.08}, {'connected_gene': 'RYR1', 'score': 4.58}, {'connected_gene': 'FBXO17', 'score': 4.37}, {'connected_gene': 'LOC105372397', 'score': 0.34}]
chr19	GH19I038631	38631415	38632292	0.85	[{'connected_gene': 'CAPN12', 'score': 11.29}, {'connected_gene': 'RYR1', 'score': 4.57}, {'connected_gene': 'MAP4K1', 'score': 0.39}, {'connected_gene': 'EIF3K', 'score': 0.39}, {'connected_gene': 'ACTN4', 'score': 0.37}]
chr19	GH19I038634	38634221	38639111	1.43	[{'connected_gene': 'ZNF573', 'score': 22.88}, {'connected_gene': 'ZFP30', 'score': 16.46}, {'connected_gene': 'ZNF607', 'score': 14.17}, {'connected_gene': 'SUPT5H', 'score': 11.96}, {'connected_gene': 'CAPN12', 'score': 11.29}, {'connected_gene': 'PAK4', 'score': 10.87}, {'connected_gene': 'ENSG00000267892', 'score': 9.39}, {'connected_gene': 'ACTN4', 'score': 0.39}, {'connected_gene': 'EIF3K', 'score': 0.37}, {'connected_gene': 'MAP4K1', 'score': 0.37}]
chr19	GH19I038632	38632403	38633318	0.43	[{'connected_gene': 'MAP4K1', 'score': 0.39}, {'connected_gene': 'ACTN4', 'score': 0.39}, {'connected_gene': 'EIF3K', 'score': 0.39}]
chr19	GH19I038633	38631023	38631369	0.38	[{'connected_gene': 'MAP4K1', 'score': 0.39}, {'connected_gene': 'EIF3K', 'score': 0.39}, {'connected_gene': 'ACTN4', 'score': 0.37}]
chr19	GH19I038673	38673896	38715876	1.89	[{'connected_gene': 'ENSG00000267375', 'score': 550.77}, {'connected_gene': 'HNRNPL', 'score': 95.38}, {'connected_gene': 'ZNF573', 'score': 63.86}, {'connected_gene': 'ZNF607', 'score': 47.83}, {'connected_gene': 'ACTN4', 'score': 33.45}, {'connected_gene': 'SUPT5H', 'score': 31.32}, {'connected_gene': 'ENSG00000269688', 'score': 30.4}, {'connected_gene': 'PAF1', 'score': 28.68}, {'connected_gene': 'CAPN12', 'score': 21.46}, {'connected_gene': 'PAK4', 'score': 21.08}, {'connected_gene': 'RPS16', 'score': 20.56}, {'connected_gene': 'CATSPERG', 'score': 18.89}, {'connected_gene': 'SAMD4B', 'score': 18.88}, {'connected_gene': 'RN7SL566P', 'score': 18.84}, {'connected_gene': 'EID2B', 'score': 17.21}, {'connected_gene': 'MED29', 'score': 15.3}, {'connected_gene': 'LGALS7', 'score': 14.41}, {'connected_gene': 'DPF1', 'score': 12.02}, {'connected_gene': 'ERVK9-11', 'score': 11.63}, {'connected_gene': 'FBXO27', 'score': 11.56}, {'connected_gene': 'ENSG00000267152', 'score': 11.55}, {'connected_gene': 'LOC100631378', 'score': 11.36}, {'connected_gene': 'ENSG00000267892', 'score': 11.11}, {'connected_gene': 'PLEKHG2', 'score': 10.71}, {'connected_gene': 'LOC644554', 'score': 10.13}, {'connected_gene': 'DLL3', 'score': 10.1}, {'connected_gene': 'EID2', 'score': 10.08}, {'connected_gene': 'FBXO17', 'score': 9.84}, {'connected_gene': 'LGALS7B', 'score': 6.96}, {'connected_gene': 'NFKBIB', 'score': 6.31}, {'connected_gene': 'RYR1', 'score': 4.91}, {'connected_gene': 'RASGRP4', 'score': 1.84}, {'connected_gene': 'C19orf33', 'score': 1.7}, {'connected_gene': 'MAP4K1', 'score': 1.68}, {'connected_gene': 'RINL', 'score': 1.68}, {'connected_gene': 'MRPS12', 'score': 1.56}, {'connected_gene': 'EIF3K', 'score': 1.55}, {'connected_gene': 'FAM98C', 'score': 1.4}, {'connected_gene': 'PSMD8', 'score': 1.4}, {'connected_gene': 'GC19M038690', 'score': 0.77}, {'connected_gene': 'GC19P038683', 'score': 0.39}, {'connected_gene': 'GC19P038675', 'score': 0.37}, {'connected_gene': 'GC19P038713', 'score': 0.37}, {'connected_gene': 'GC19P038678', 'score': 0.37}, {'connected_gene': 'GC19P038714', 'score': 0.37}, {'connected_gene': 'PIR42010', 'score': 0.37}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000593149	[[39109734, 39109863], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39125758], [39127528, 39127593]]	[[39114819, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39125758], [39127528, 39127560]]
ENST00000248342	[[39109736, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39125758], [39127528, 39127595]]	[[39109908, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39125758], [39127528, 39127560]]
ENST00000586932	[[39109825, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116972]]	None
ENST00000593062	[[39109825, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39121341, 39121608]]	None
ENST00000538434	[[39109825, 39109957], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39126125]]	[[39114819, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39125769]]
ENST00000588934	[[39109825, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39127528, 39127592]]	[[39109908, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39127528, 39127588]]
ENST00000545173	[[39109832, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39126384]]	[[39109908, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39125769]]
ENST00000589307	[[39109833, 39109957], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39121341, 39121460]]	[[39114819, 39114837], [39116667, 39116742], [39121341, 39121460]]
ENST00000588422	[[39109835, 39109957], [39110976, 39111075], [39114716, 39114837], [39116667, 39116832]]	None
ENST00000586513	[[39109835, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39119142, 39119208]]	[[39109908, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39119142, 39119208]]
ENST00000591409	[[39109835, 39109967], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39125742]]	[[39109908, 39109967], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39125742]]
ENST00000592558	[[39109850, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39125632, 39125758], [39127528, 39127593]]	[[39109908, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39125632, 39125758], [39127528, 39127560]]
ENST00000588299	[[39116689, 39116742], [39123069, 39123540]]	None
ENST00000590134	[[39122665, 39123136], [39123240, 39123318], [39125632, 39125758], [39127528, 39127564]]	None
NM_001308393	[[39109711, 39109957], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39125758], [39127528, 39127599]]	[[39114819, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39125758], [39127528, 39127560]]
NM_001300992	[[39109713, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39125632, 39125758], [39127528, 39127599]]	[[39109908, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39125632, 39125758], [39127528, 39127560]]
NM_013234	[[39109713, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39125758], [39127528, 39127599]]	[[39109908, 39109967], [39110976, 39111075], [39114716, 39114837], [39116667, 39116742], [39123069, 39123136], [39123240, 39123318], [39125632, 39125758], [39127528, 39127560]]