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
ENST00000320256	[[70187225, 70189397]]	[[70187788, 70188820]]
NM_152792	[[70187220, 70189397]]	[[70187788, 70188820]]

Promoter

Chrom	Start	End	Description
chr2	70188755	70188770	CAGE_peak_2_at_ASPRV1_5end
chr2	70314112	70314146	CAGE_peak_1_at_ASPRV1_5end,CAGE_peak_4_at_PCBP1-AS1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I070139	70139132	70144599	1.55	[{'connected_gene': 'TIA1', 'score': 25.75}, {'connected_gene': 'TEX261', 'score': 22.5}, {'connected_gene': 'MPHOSPH10', 'score': 12.82}, {'connected_gene': 'ANKRD53', 'score': 12.36}, {'connected_gene': 'CLEC4F', 'score': 12.29}, {'connected_gene': 'PCBP1-AS1', 'score': 11.46}, {'connected_gene': 'FAM136A', 'score': 11.26}, {'connected_gene': 'ASPRV1', 'score': 11.0}, {'connected_gene': 'CD207', 'score': 10.41}, {'connected_gene': 'PCYOX1', 'score': 9.86}, {'connected_gene': 'LINC01816', 'score': 0.37}, {'connected_gene': 'GC02P070210', 'score': 0.2}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2	GH02I070513	70513542	70517495	1.19	[{'connected_gene': 'TGFA', 'score': 6.34}, {'connected_gene': 'ASPRV1', 'score': 5.1}, {'connected_gene': 'TGFA-IT1', 'score': 0.29}]
chr2	GH02I070522	70522797	70526815	1.25	[{'connected_gene': 'TGFA', 'score': 11.43}, {'connected_gene': 'ADD2', 'score': 9.93}, {'connected_gene': 'ASPRV1', 'score': 5.19}, {'connected_gene': 'TGFA-IT1', 'score': 0.26}]
chr2	GH02I070189	70189725	70191902	2.11	[{'connected_gene': 'C2orf42', 'score': 561.5}, {'connected_gene': 'TIA1', 'score': 24.78}, {'connected_gene': 'PCBP1-AS1', 'score': 12.67}, {'connected_gene': 'GMCL1', 'score': 11.76}, {'connected_gene': 'PCYOX1', 'score': 11.66}, {'connected_gene': 'MPHOSPH10', 'score': 11.07}, {'connected_gene': 'ASPRV1', 'score': 10.64}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'FAM136A', 'score': 10.27}, {'connected_gene': 'GC02P070210', 'score': 0.37}, {'connected_gene': 'LINC01816', 'score': 0.2}, {'connected_gene': 'GC02P069822', 'score': 0.05}]
chr2	GH02I070182	70182767	70182826	0.5	[{'connected_gene': 'C2orf42', 'score': 550.2}, {'connected_gene': 'ASPRV1', 'score': 10.71}, {'connected_gene': 'GC02P070210', 'score': 0.31}, {'connected_gene': 'LINC01816', 'score': 0.22}, {'connected_gene': 'GC02P069822', 'score': 0.05}]
chr2	GH02I070188	70188086	70189265	0.89	[{'connected_gene': 'C2orf42', 'score': 11.39}, {'connected_gene': 'ASPRV1', 'score': 10.64}, {'connected_gene': 'GC02P070210', 'score': 0.34}, {'connected_gene': 'LINC01816', 'score': 0.21}, {'connected_gene': 'GC02P069822', 'score': 0.05}]
chr2	GH02I070509	70509615	70510944	0.99	[{'connected_gene': 'CD207', 'score': 13.76}, {'connected_gene': 'TGFA', 'score': 11.48}, {'connected_gene': 'ASPRV1', 'score': 4.41}, {'connected_gene': 'FIGLA', 'score': 1.47}, {'connected_gene': 'TGFA-IT1', 'score': 0.31}]
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	GH02I069581	69581294	69584869	1.48	[{'connected_gene': 'MXD1', 'score': 8.06}, {'connected_gene': 'ASPRV1', 'score': 7.72}, {'connected_gene': 'GFPT1', 'score': 7.1}, {'connected_gene': 'GC02P069577', 'score': 0.44}, {'connected_gene': 'GC02M069595', 'score': 0.39}, {'connected_gene': 'AAK1', 'score': 0.16}]
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	GH02I070018	70018801	70019534	0.43	[{'connected_gene': 'PCBP1-AS1', 'score': 14.32}, {'connected_gene': 'ASPRV1', 'score': 12.47}, {'connected_gene': 'SNRNP27', 'score': 10.37}, {'connected_gene': 'MXD1', 'score': 10.37}, {'connected_gene': 'PIR47967', 'score': 0.31}, {'connected_gene': 'RN7SL470P', 'score': 0.22}, {'connected_gene': 'GC02P069822', 'score': 0.08}]
chr2	GH02I070034	70034685	70035673	0.69	[{'connected_gene': 'PCBP1-AS1', 'score': 14.22}, {'connected_gene': 'ASPRV1', 'score': 7.26}, {'connected_gene': 'RN7SL470P', 'score': 0.26}, {'connected_gene': 'PIR47967', 'score': 0.26}, {'connected_gene': 'GC02P069822', 'score': 0.08}]
chr2	GH02I070009	70009478	70011995	1.05	[{'connected_gene': 'PCBP1-AS1', 'score': 14.12}, {'connected_gene': 'ASPRV1', 'score': 12.29}, {'connected_gene': 'PIR47967', 'score': 0.37}, {'connected_gene': 'RN7SL470P', 'score': 0.21}, {'connected_gene': 'GC02P069822', 'score': 0.09}]
chr2	GH02I069963	69963396	69965385	0.54	[{'connected_gene': 'PCBP1-AS1', 'score': 13.36}, {'connected_gene': 'PIR34677', 'score': 0.77}, {'connected_gene': 'ASPRV1', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.11}]
chr2	GH02I069548	69548380	69548441	0.59	[{'connected_gene': 'ANXA4', 'score': 11.09}, {'connected_gene': 'GFPT1', 'score': 10.4}, {'connected_gene': 'ASPRV1', 'score': 6.56}, {'connected_gene': 'AAK1', 'score': 1.82}, {'connected_gene': 'MXD1', 'score': 1.77}, {'connected_gene': 'GMCL1', 'score': 1.17}, {'connected_gene': 'GC02M069527', 'score': 0.31}, {'connected_gene': 'GC02P069577', 'score': 0.31}, {'connected_gene': 'SNORA36C', 'score': 0.31}]
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	GH02I070062	70062711	70064964	0.38	[{'connected_gene': 'ASPRV1', 'score': 11.69}, {'connected_gene': 'MXD1', 'score': 10.96}, {'connected_gene': 'SNRNP27', 'score': 10.76}, {'connected_gene': 'PCYOX1', 'score': 9.66}, {'connected_gene': 'RN7SL470P', 'score': 0.39}, {'connected_gene': 'PCBP1-AS1', 'score': 0.28}, {'connected_gene': 'PIR47967', 'score': 0.19}, {'connected_gene': 'GC02P069822', 'score': 0.07}]
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	GH02I069996	69996901	69998346	1.14	[{'connected_gene': 'ASPRV1', 'score': 12.93}, {'connected_gene': 'PCBP1-AS1', 'score': 12.86}, {'connected_gene': 'PIR47967', 'score': 0.44}, {'connected_gene': 'RN7SL470P', 'score': 0.18}, {'connected_gene': 'GC02P069822', 'score': 0.09}]
chr2	GH02I070180	70180646	70182059	0.64	[{'connected_gene': 'ASPRV1', 'score': 10.71}, {'connected_gene': 'GC02P070210', 'score': 0.31}, {'connected_gene': 'LINC01816', 'score': 0.22}, {'connected_gene': 'C2orf42', 'score': 0.2}, {'connected_gene': 'GC02P069822', 'score': 0.05}]
chr2	GH02I069951	69951720	69953631	0.56	[{'connected_gene': 'ASPRV1', 'score': 6.93}, {'connected_gene': 'PIR33848', 'score': 0.77}, {'connected_gene': 'PIR60427', 'score': 0.44}, {'connected_gene': 'GC02P069822', 'score': 0.13}]
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	GH02I069848	69848044	69848673	0.38	[{'connected_gene': 'SNRNP27', 'score': 11.34}, {'connected_gene': 'MXD1', 'score': 11.34}, {'connected_gene': 'ASPRV1', 'score': 10.34}, {'connected_gene': 'GFPT1', 'score': 9.3}, {'connected_gene': 'ENSG00000275381', 'score': 0.77}, {'connected_gene': 'GC02P069855', 'score': 0.44}, {'connected_gene': 'GMCL1', 'score': 0.37}, {'connected_gene': 'GC02P069822', 'score': 0.31}]
chr2	GH02I069938	69938826	69940630	0.59	[{'connected_gene': 'SNRNP27', 'score': 23.18}, {'connected_gene': 'ASPRV1', 'score': 12.63}, {'connected_gene': 'GMCL1', 'score': 9.73}, {'connected_gene': 'PIR33848', 'score': 0.44}, {'connected_gene': 'MXD1', 'score': 0.26}, {'connected_gene': 'GC02P069822', 'score': 0.13}]
chr2	GH02I069920	69920156	69921289	0.31	[{'connected_gene': 'SNRNP27', 'score': 57.63}, {'connected_gene': 'ASPRV1', 'score': 11.18}, {'connected_gene': 'MXD1', 'score': 10.95}, {'connected_gene': 'GMCL1', 'score': 9.46}, {'connected_gene': 'PIR33848', 'score': 0.31}, {'connected_gene': 'GC02P069822', 'score': 0.15}]
chr2	GH02I069923	69923074	69925522	0.31	[{'connected_gene': 'SNRNP27', 'score': 42.78}, {'connected_gene': 'ASPRV1', 'score': 12.11}, {'connected_gene': 'MXD1', 'score': 10.77}, {'connected_gene': 'PIR33848', 'score': 0.34}, {'connected_gene': 'GC02P069822', 'score': 0.15}]
chr2	GH02I069901	69901368	69903802	1.04	[{'connected_gene': 'SNRNP27', 'score': 24.0}, {'connected_gene': 'ASPRV1', 'score': 10.83}, {'connected_gene': 'PCBP1-AS1', 'score': 5.18}, {'connected_gene': 'MXD1', 'score': 0.77}, {'connected_gene': 'PIR33848', 'score': 0.25}, {'connected_gene': 'GC02P069822', 'score': 0.18}]
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}]
chr2	GH02I069966	69966129	69966278	0.54	[{'connected_gene': 'PIR34677', 'score': 0.77}, {'connected_gene': 'ASPRV1', 'score': 0.77}, {'connected_gene': 'PCBP1-AS1', 'score': 0.12}, {'connected_gene': 'GC02P069822', 'score': 0.11}]