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
ENST00000303577	[[70314584, 70316332]]	[[70314875, 70315946]]
NM_006196	[[70314584, 70316335]]	[[70314875, 70315946]]

Promoter

Chrom	Start	End	Description
chr2	70314240	70314256	CAGE_peak_4_at_PCBP1_5end
chr2	70314579	70314590	CAGE_peak_2_at_PCBP1_5end
chr2	70314601	70314622	CAGE_peak_1_at_PCBP1_5end
chr2	70314849	70314860	CAGE_peak_3_at_PCBP1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I070028	70028378	70031819	1.34	[{'connected_gene': 'TIA1', 'score': 17.8}, {'connected_gene': 'PCBP1-AS1', 'score': 14.2}, {'connected_gene': 'TEX261', 'score': 12.49}, {'connected_gene': 'ANKRD53', 'score': 12.36}, {'connected_gene': 'FAM136A', 'score': 11.03}, {'connected_gene': 'MXD1', 'score': 8.22}, {'connected_gene': 'PCBP1', 'score': 1.64}, {'connected_gene': 'PIR47967', 'score': 0.28}, {'connected_gene': 'RN7SL470P', 'score': 0.25}, {'connected_gene': 'GC02P069822', 'score': 0.08}]
chr2	GH02I070078	70078102	70079754	1.02	[{'connected_gene': 'PCYOX1', 'score': 9.43}, {'connected_gene': 'RN7SL470P', 'score': 0.77}, {'connected_gene': 'PCBP1', 'score': 0.44}, {'connected_gene': 'PCBP1-AS1', 'score': 0.34}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2	GH02I070080	70080579	70092203	2.33	[{'connected_gene': 'PCBP1', 'score': 550.77}, {'connected_gene': 'TIA1', 'score': 48.73}, {'connected_gene': 'PCBP1-AS1', 'score': 45.64}, {'connected_gene': 'TEX261', 'score': 31.58}, {'connected_gene': 'CLEC4F', 'score': 21.97}, {'connected_gene': 'GMCL1', 'score': 21.25}, {'connected_gene': 'ANKRD53', 'score': 20.71}, {'connected_gene': 'C2orf42', 'score': 13.54}, {'connected_gene': 'MXD1', 'score': 11.24}, {'connected_gene': 'SNRNP27', 'score': 11.13}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'PCYOX1', 'score': 8.74}, {'connected_gene': 'ENSG00000233060', 'score': 0.77}, {'connected_gene': 'RN7SL470P', 'score': 0.39}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2	GH02I070042	70042148	70045600	1.1	[{'connected_gene': 'MXD1', 'score': 41.51}, {'connected_gene': 'PCBP1-AS1', 'score': 14.25}, {'connected_gene': 'PCBP1', 'score': 9.5}, {'connected_gene': 'ASPRV1', 'score': 6.0}, {'connected_gene': 'C2orf42', 'score': 1.13}, {'connected_gene': 'RN7SL470P', 'score': 0.29}, {'connected_gene': 'PIR47967', 'score': 0.23}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2	GH02I070045	70045970	70048640	1.03	[{'connected_gene': 'MXD1', 'score': 18.8}, {'connected_gene': 'PCBP1-AS1', 'score': 14.25}, {'connected_gene': 'ASPRV1', 'score': 11.94}, {'connected_gene': 'PCYOX1', 'score': 9.41}, {'connected_gene': 'PCBP1', 'score': 8.33}, {'connected_gene': 'GMCL1', 'score': 3.97}, {'connected_gene': 'RN7SL470P', 'score': 0.31}, {'connected_gene': 'PIR47967', 'score': 0.22}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2	GH02I070039	70039302	70039642	0.39	[{'connected_gene': 'MXD1', 'score': 26.51}, {'connected_gene': 'PCBP1-AS1', 'score': 12.58}, {'connected_gene': 'ASPRV1', 'score': 10.81}, {'connected_gene': 'PCBP1', 'score': 9.04}, {'connected_gene': 'GMCL1', 'score': 2.88}, {'connected_gene': 'RN7SL470P', 'score': 0.28}, {'connected_gene': 'PIR47967', 'score': 0.25}, {'connected_gene': 'GC02P069822', 'score': 0.08}]
chr2	GH02I069943	69943712	69944040	0.79	[{'connected_gene': 'MXD1', 'score': 18.57}, {'connected_gene': 'ASPRV1', 'score': 13.05}, {'connected_gene': 'PCBP1', 'score': 7.49}, {'connected_gene': 'PCBP1-AS1', 'score': 5.55}, {'connected_gene': 'GMCL1', 'score': 3.46}, {'connected_gene': 'PIR33848', 'score': 0.44}, {'connected_gene': 'GC02P069822', 'score': 0.13}]
chr2	GH02I070067	70067143	70071965	1.69	[{'connected_gene': 'MXD1', 'score': 35.31}, {'connected_gene': 'ASPRV1', 'score': 18.3}, {'connected_gene': 'PCBP1-AS1', 'score': 14.27}, {'connected_gene': 'C2orf42', 'score': 13.05}, {'connected_gene': 'SNRNP27', 'score': 10.76}, {'connected_gene': 'PCBP1', 'score': 7.2}, {'connected_gene': 'GMCL1', 'score': 2.24}, {'connected_gene': 'RN7SL470P', 'score': 0.44}, {'connected_gene': 'PIR47967', 'score': 0.18}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2	GH02I069945	69944802	69949062	1.66	[{'connected_gene': 'MXD1', 'score': 27.1}, {'connected_gene': 'SNRNP27', 'score': 19.11}, {'connected_gene': 'ASPRV1', 'score': 17.38}, {'connected_gene': 'TIA1', 'score': 11.96}, {'connected_gene': 'PCBP1', 'score': 10.33}, {'connected_gene': 'GMCL1', 'score': 9.54}, {'connected_gene': 'SNRPG', 'score': 5.68}, {'connected_gene': 'PIR33848', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.13}]
chr2	GH02I069931	69931601	69936270	1.7	[{'connected_gene': 'MXD1', 'score': 40.06}, {'connected_gene': 'SNRNP27', 'score': 34.96}, {'connected_gene': 'ASPRV1', 'score': 26.91}, {'connected_gene': 'PCBP1', 'score': 14.29}, {'connected_gene': 'PCBP1-AS1', 'score': 4.4}, {'connected_gene': 'GMCL1', 'score': 2.1}, {'connected_gene': 'C2orf42', 'score': 1.22}, {'connected_gene': 'PIR33848', 'score': 0.37}, {'connected_gene': 'GC02P069822', 'score': 0.14}]
chr2	GH02I069911	69911645	69919031	2.82	[{'connected_gene': 'MXD1', 'score': 593.5}, {'connected_gene': 'SNRNP27', 'score': 50.07}, {'connected_gene': 'ASPRV1', 'score': 20.8}, {'connected_gene': 'PCBP1-AS1', 'score': 12.58}, {'connected_gene': 'GMCL1', 'score': 11.98}, {'connected_gene': 'PCBP1', 'score': 9.29}, {'connected_gene': 'PIR33848', 'score': 0.29}, {'connected_gene': 'GC02P069822', 'score': 0.16}]
chr2	GH02I070130	70130929	70138535	1.96	[{'connected_gene': 'PCBP1-AS1', 'score': 21.54}, {'connected_gene': 'TIA1', 'score': 20.06}, {'connected_gene': 'TEX261', 'score': 12.07}, {'connected_gene': 'FAM136A', 'score': 11.19}, {'connected_gene': 'CLEC4F', 'score': 11.15}, {'connected_gene': 'C2orf42', 'score': 10.23}, {'connected_gene': 'PCYOX1', 'score': 9.71}, {'connected_gene': 'MXD1', 'score': 2.33}, {'connected_gene': 'PCBP1', 'score': 1.95}, {'connected_gene': 'LINC01816', 'score': 0.44}, {'connected_gene': 'GC02P070210', 'score': 0.18}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2	GH02I070107	70107202	70114496	1.82	[{'connected_gene': 'PCBP1-AS1', 'score': 22.46}, {'connected_gene': 'C2orf42', 'score': 15.48}, {'connected_gene': 'FAM136A', 'score': 12.2}, {'connected_gene': 'GMCL1', 'score': 11.77}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'SNRNP27', 'score': 10.3}, {'connected_gene': 'MXD1', 'score': 10.3}, {'connected_gene': 'PCYOX1', 'score': 8.07}, {'connected_gene': 'PCBP1', 'score': 1.75}, {'connected_gene': 'AAK1', 'score': 1.74}, {'connected_gene': 'GC02P070112', 'score': 0.77}, {'connected_gene': 'GC02P070113', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2	GH02I069999	69999779	69999939	0.76	[{'connected_gene': 'ASPRV1', 'score': 24.48}, {'connected_gene': 'MXD1', 'score': 10.32}, {'connected_gene': 'PCBP1', 'score': 4.65}, {'connected_gene': 'GMCL1', 'score': 1.91}, {'connected_gene': 'PIR47967', 'score': 0.44}, {'connected_gene': 'RN7SL470P', 'score': 0.18}, {'connected_gene': 'PCBP1-AS1', 'score': 0.15}, {'connected_gene': 'GC02P069822', 'score': 0.1}]
chr2	GH02I070002	70002727	70002736	0.51	[{'connected_gene': 'ASPRV1', 'score': 28.36}, {'connected_gene': 'MXD1', 'score': 14.06}, {'connected_gene': 'PCBP1', 'score': 9.27}, {'connected_gene': 'GMCL1', 'score': 2.55}, {'connected_gene': 'PIR47967', 'score': 0.39}, {'connected_gene': 'RN7SL470P', 'score': 0.19}, {'connected_gene': 'PCBP1-AS1', 'score': 0.15}, {'connected_gene': 'GC02P069822', 'score': 0.09}]
chr2	GH02I070000	69999286	69999674	0.71	[{'connected_gene': 'ASPRV1', 'score': 18.34}, {'connected_gene': 'PCBP1-AS1', 'score': 12.22}, {'connected_gene': 'MXD1', 'score': 2.39}, {'connected_gene': 'PCBP1', 'score': 2.2}, {'connected_gene': 'GMCL1', 'score': 1.49}, {'connected_gene': 'PIR47967', 'score': 0.44}, {'connected_gene': 'RN7SL470P', 'score': 0.18}, {'connected_gene': 'GC02P069822', 'score': 0.1}]
chr2	GH02I069926	69926867	69927648	1.51	[{'connected_gene': 'SNRNP27', 'score': 34.71}, {'connected_gene': 'MXD1', 'score': 30.51}, {'connected_gene': 'ASPRV1', 'score': 21.89}, {'connected_gene': 'PCBP1', 'score': 7.51}, {'connected_gene': 'GMCL1', 'score': 3.01}, {'connected_gene': 'PIR33848', 'score': 0.34}, {'connected_gene': 'GC02P069822', 'score': 0.15}]
chr2	GH02I069761	69761481	69783376	1.75	[{'connected_gene': 'SNRNP27', 'score': 38.96}, {'connected_gene': 'ANXA4', 'score': 20.34}, {'connected_gene': 'MXD1', 'score': 16.9}, {'connected_gene': 'GMCL1', 'score': 11.32}, {'connected_gene': 'PCBP1', 'score': 1.34}, {'connected_gene': 'GC02P069822', 'score': 0.23}, {'connected_gene': 'ENSG00000231024', 'score': 0.22}]
chr2	GH02I070081	70080045	70080331	0.31	[{'connected_gene': 'RN7SL470P', 'score': 0.77}, {'connected_gene': 'PCBP1', 'score': 0.44}, {'connected_gene': 'PCBP1-AS1', 'score': 0.34}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
chr2	GH02I069974	69974541	69980528	1.56	[{'connected_gene': 'PIR52583', 'score': 550.77}, {'connected_gene': 'MXD1', 'score': 47.38}, {'connected_gene': 'PCBP1-AS1', 'score': 24.84}, {'connected_gene': 'TIA1', 'score': 19.98}, {'connected_gene': 'C2orf42', 'score': 11.3}, {'connected_gene': 'CLEC4F', 'score': 11.15}, {'connected_gene': 'FAM136A', 'score': 10.39}, {'connected_gene': 'SNRNP27', 'score': 10.26}, {'connected_gene': 'ASPRV1', 'score': 9.16}, {'connected_gene': 'PCBP1', 'score': 8.62}, {'connected_gene': 'GMCL1', 'score': 2.9}, {'connected_gene': 'PIR41837', 'score': 0.44}, {'connected_gene': 'GC02P069822', 'score': 0.1}]
chr2	GH02I069985	69985201	69986600	1.12	[{'connected_gene': 'PIR41837', 'score': 550.77}, {'connected_gene': 'MXD1', 'score': 41.1}, {'connected_gene': 'PCBP1-AS1', 'score': 13.64}, {'connected_gene': 'PCBP1', 'score': 7.91}, {'connected_gene': 'ASPRV1', 'score': 4.63}, {'connected_gene': 'PIR47967', 'score': 0.44}, {'connected_gene': 'GC02P069822', 'score': 0.1}]