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
ENST00000256383	[[67826713, 67827173], [67831483, 67831725], [67841184, 67841264], [67843155, 67843307], [67847375, 67847482], [67848309, 67848407], [67849163, 67849307], [67850031, 67853233]]	[[67831484, 67831725], [67841184, 67841264], [67843155, 67843307], [67847375, 67847482], [67848309, 67848407], [67849163, 67849307], [67850031, 67850157]]
ENST00000556724	[[67827069, 67827173], [67831483, 67831725], [67841184, 67841365]]	None
ENST00000557310	[[67827272, 67827451], [67831483, 67831725], [67841184, 67841264], [67843155, 67843307], [67847375, 67847482], [67848309, 67848407], [67849163, 67849304]]	[[67831484, 67831725], [67841184, 67841264], [67843155, 67843307], [67847375, 67847482], [67848309, 67848407], [67849163, 67849304]]
ENST00000466499	[[67830724, 67831725], [67841184, 67841264], [67843155, 67843307], [67847375, 67847482], [67848309, 67848407], [67849163, 67849307], [67850031, 67850839]]	[[67831484, 67831725], [67841184, 67841264], [67843155, 67843307], [67847375, 67847482], [67848309, 67848407], [67849163, 67849307], [67850031, 67850157]]
ENST00000555876	[[67831614, 67831725], [67841184, 67841264], [67843155, 67843307], [67847375, 67847482], [67848309, 67848407], [67849163, 67849398]]	[[67831614, 67831725], [67841184, 67841264], [67843155, 67843307], [67847375, 67847482], [67848309, 67848407], [67849163, 67849373]]
ENST00000554332	[[67849127, 67849307], [67850031, 67850385]]	None
NM_004094	[[67827033, 67827173], [67831483, 67831725], [67841184, 67841264], [67843155, 67843307], [67847375, 67847482], [67848309, 67848407], [67849163, 67849307], [67850031, 67853233]]	[[67831484, 67831725], [67841184, 67841264], [67843155, 67843307], [67847375, 67847482], [67848309, 67848407], [67849163, 67849307], [67850031, 67850157]]

Promoter

Chrom	Start	End	Description
chr14	67826709	67826751	CAGE_peak_3_at_EIF2S1_5end
chr14	67827022	67827087	CAGE_peak_1_at_EIF2S1_5end
chr14	67827096	67827111	CAGE_peak_2_at_EIF2S1_5end
chr14	67831576	67831580	CAGE_peak_4_at_EIF2S1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I067238	67238315	67243321	2.23	[{'connected_gene': 'MPP5', 'score': 550.77}, {'connected_gene': 'ATP6V1D', 'score': 23.84}, {'connected_gene': 'EIF2S1', 'score': 7.8}, {'connected_gene': 'ENSG00000258561', 'score': 5.74}, {'connected_gene': 'ENSG00000258988', 'score': 0.26}]
chr14	GH14I067268	67268070	67271638	0.88	[{'connected_gene': 'ATP6V1D', 'score': 25.21}, {'connected_gene': 'PLEK2', 'score': 17.84}, {'connected_gene': 'MPP5', 'score': 12.29}, {'connected_gene': 'EIF2S1', 'score': 7.82}, {'connected_gene': 'GPHN', 'score': 4.51}, {'connected_gene': 'GC14M067260', 'score': 0.44}, {'connected_gene': 'GC14M067261', 'score': 0.44}, {'connected_gene': 'GC14P067341', 'score': 0.19}]
chr14	GH14I067390	67390422	67393462	0.83	[{'connected_gene': 'ATP6V1D', 'score': 24.85}, {'connected_gene': 'PLEK2', 'score': 11.54}, {'connected_gene': 'EIF2S1', 'score': 4.69}, {'connected_gene': 'ENSG00000258561', 'score': 3.88}]
chr14	GH14I067228	67228331	67229627	0.31	[{'connected_gene': 'ATP6V1D', 'score': 24.25}, {'connected_gene': 'EIF2S1', 'score': 7.85}, {'connected_gene': 'MPP5', 'score': 0.39}, {'connected_gene': 'ENSG00000258988', 'score': 0.31}, {'connected_gene': 'FAM71D', 'score': 0.28}]
chr14	GH14I067230	67230810	67233015	0.51	[{'connected_gene': 'ATP6V1D', 'score': 24.26}, {'connected_gene': 'EIF2S1', 'score': 8.42}, {'connected_gene': 'MPP5', 'score': 0.44}, {'connected_gene': 'ENSG00000258988', 'score': 0.29}]
chr14	GH14I067356	67356532	67361905	2.27	[{'connected_gene': 'ATP6V1D', 'score': 575.84}, {'connected_gene': 'EIF2S1', 'score': 550.77}, {'connected_gene': 'ZFYVE26', 'score': 22.31}, {'connected_gene': 'PLEK2', 'score': 18.52}, {'connected_gene': 'ENSG00000258561', 'score': 7.39}, {'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'ENSG00000199755', 'score': 0.37}]
chr14	GH14I067312	67312004	67312153	0.8	[{'connected_gene': 'ATP6V1D', 'score': 37.24}, {'connected_gene': 'EIF2S1', 'score': 12.33}, {'connected_gene': 'FAM71D', 'score': 11.37}, {'connected_gene': 'GC14P067341', 'score': 0.31}, {'connected_gene': 'GC14M067260', 'score': 0.23}, {'connected_gene': 'GC14M067261', 'score': 0.23}, {'connected_gene': 'MPP5', 'score': 0.19}]
chr14	GH14I067343	67343444	67344897	0.2	[{'connected_gene': 'ATP6V1D', 'score': 25.43}, {'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'ENSG00000199755', 'score': 0.77}, {'connected_gene': 'EIF2S1', 'score': 0.37}]
chr14	GH14I067308	67308232	67308345	0.28	[{'connected_gene': 'EIF2S1', 'score': 12.31}, {'connected_gene': 'ATP6V1D', 'score': 12.31}, {'connected_gene': 'PLEKHH1', 'score': 1.79}, {'connected_gene': 'GC14P067341', 'score': 0.29}, {'connected_gene': 'GC14M067260', 'score': 0.25}, {'connected_gene': 'GC14M067261', 'score': 0.25}, {'connected_gene': 'MPP5', 'score': 0.2}]
chr14	GH14I067357	67356201	67356400	0.2	[{'connected_gene': 'EIF2S1', 'score': 0.77}, {'connected_gene': 'ATP6V1D', 'score': 0.77}, {'connected_gene': 'ENSG00000199755', 'score': 0.37}]
chr14	GH14I067673	67673352	67675832	2.01	[{'connected_gene': 'VTI1B', 'score': 550.77}, {'connected_gene': 'PIGH', 'score': 15.72}, {'connected_gene': 'RDH11', 'score': 13.1}, {'connected_gene': 'RDH12', 'score': 11.75}, {'connected_gene': 'RN7SL369P', 'score': 11.73}, {'connected_gene': 'ARG2', 'score': 9.34}, {'connected_gene': 'EIF2S1', 'score': 3.7}, {'connected_gene': 'GC14M067658', 'score': 0.37}, {'connected_gene': 'ENSG00000258466', 'score': 0.37}]
chr14	GH14I067342	67342307	67342579	0.28	[{'connected_gene': 'GPHN', 'score': 5.94}, {'connected_gene': 'PLEKHH1', 'score': 4.44}, {'connected_gene': 'MPP5', 'score': 2.29}, {'connected_gene': 'RDH12', 'score': 2.14}, {'connected_gene': 'ENSG00000199755', 'score': 0.77}, {'connected_gene': 'EIF2S1', 'score': 0.37}, {'connected_gene': 'ATP6V1D', 'score': 0.37}]
chr14	GH14I066506	66506773	66510001	2.08	[{'connected_gene': 'GPHN', 'score': 550.77}, {'connected_gene': 'ENSG00000258561', 'score': 550.77}, {'connected_gene': 'ATP6V1D', 'score': 12.7}, {'connected_gene': 'PLEK2', 'score': 11.87}, {'connected_gene': 'EIF2S1', 'score': 10.42}]