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
ENST00000037869	[[70523106, 70524609], [70527971, 70528112], [70529056, 70529222]]	[[70524420, 70524609], [70527971, 70528112], [70529056, 70529143]]
ENST00000460307	[[70523107, 70524609], [70527971, 70528735], [70529056, 70529188]]	None
ENST00000450256	[[70524142, 70524609], [70527971, 70528112], [70528539, 70528735], [70529056, 70529188]]	[[70528077, 70528112], [70528539, 70528735], [70529056, 70529143]]
ENST00000430566	[[70524307, 70524609], [70527971, 70528112], [70528735, 70529177]]	[[70524420, 70524609], [70527971, 70528112], [70528735, 70529143]]
ENST00000438759	[[70524557, 70524609], [70527971, 70528112], [70528801, 70529126]]	[[70524557, 70524609], [70527971, 70528112], [70528801, 70529098]]
ENST00000498665	[[70527639, 70528112], [70529056, 70529144]]	None
NM_001329752	[[70523107, 70524609], [70527971, 70528112], [70528735, 70529177]]	[[70524420, 70524609], [70527971, 70528112], [70528735, 70529143]]
NM_001329753	[[70523107, 70524609], [70527971, 70528112], [70528801, 70529215]]	[[70524420, 70524609], [70527971, 70528112], [70528801, 70529143]]
NM_001329755	[[70523107, 70524609], [70527971, 70528735], [70529056, 70529220]]	[[70524420, 70524609], [70527971, 70528106]]
NM_001329757	[[70523107, 70524609], [70527971, 70528112], [70528539, 70528735], [70529056, 70529220]]	[[70524420, 70524609], [70527971, 70528106]]
NM_001329758	[[70523107, 70524609], [70527971, 70528112], [70528653, 70528735], [70529056, 70529220]]	[[70524420, 70524609], [70527971, 70528106]]
NM_032822	[[70523107, 70524609], [70527971, 70528112], [70529056, 70529220]]	[[70524420, 70524609], [70527971, 70528112], [70529056, 70529143]]

Promoter

Chrom	Start	End	Description
chr2	70529150	70529179	CAGE_peak_1_at_FAM136A_5end
chr2	70529180	70529217	CAGE_peak_2_at_FAM136A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I070300	70300702	70302698	2.03	[{'connected_gene': 'FAM136A', 'score': 564.37}, {'connected_gene': 'ENSG00000233849', 'score': 550.77}, {'connected_gene': 'TIA1', 'score': 14.6}, {'connected_gene': 'PCYOX1', 'score': 12.58}, {'connected_gene': 'TEX261', 'score': 12.35}]
chr2	GH02I070303	70303600	70304400	1	[{'connected_gene': 'FAM136A', 'score': 550.77}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 10.64}, {'connected_gene': 'VAX2', 'score': 10.13}, {'connected_gene': 'BRD7P6', 'score': 0.28}]
chr2	GH02I070246	70246601	70249920	2.07	[{'connected_gene': 'TIA1', 'score': 560.65}, {'connected_gene': 'C2orf42', 'score': 560.53}, {'connected_gene': 'TRG-CCC2-1', 'score': 550.77}, {'connected_gene': 'PCBP1-AS1', 'score': 23.12}, {'connected_gene': 'GMCL1', 'score': 21.23}, {'connected_gene': 'MPHOSPH10', 'score': 14.5}, {'connected_gene': 'CLEC4F', 'score': 12.59}, {'connected_gene': 'TEX261', 'score': 10.6}, {'connected_gene': 'NAGK', 'score': 10.51}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'FAM136A', 'score': 5.88}, {'connected_gene': 'GC02M070219', 'score': 0.31}]
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	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	GH02I070328	70328549	70330648	0.95	[{'connected_gene': 'TGFA', 'score': 11.7}, {'connected_gene': 'FAM136A', 'score': 10.69}, {'connected_gene': 'PCYOX1', 'score': 10.09}, {'connected_gene': 'BRD7P6', 'score': 0.39}]
chr2	GH02I070362	70362302	70364156	0.43	[{'connected_gene': 'TGFA', 'score': 18.47}, {'connected_gene': 'FAM136A', 'score': 4.38}, {'connected_gene': 'BRD7P6', 'score': 0.34}, {'connected_gene': 'LOC105374793', 'score': 0.28}]
chr2	GH02I070594	70594030	70595377	0.31	[{'connected_gene': 'TGFA', 'score': 5.02}, {'connected_gene': 'FAM136A', 'score': 4.34}, {'connected_gene': 'GC02M070656', 'score': 0.21}]
chr2	GH02I070291	70291167	70295237	2.1	[{'connected_gene': 'SNRPG', 'score': 550.77}, {'connected_gene': 'PCBP1-AS1', 'score': 34.02}, {'connected_gene': 'CLEC4F', 'score': 32.44}, {'connected_gene': 'TEX261', 'score': 30.91}, {'connected_gene': 'TIA1', 'score': 28.03}, {'connected_gene': 'GMCL1', 'score': 21.23}, {'connected_gene': 'PCYOX1', 'score': 13.45}, {'connected_gene': 'C2orf42', 'score': 11.83}, {'connected_gene': 'NAGK', 'score': 10.52}, {'connected_gene': 'CD207', 'score': 10.41}, {'connected_gene': 'ANKRD53', 'score': 10.09}, {'connected_gene': 'FAM136A', 'score': 5.02}, {'connected_gene': 'GC02P070271', 'score': 0.34}]
chr2	GH02I069738	69738117	69738948	0.49	[{'connected_gene': 'GMCL1', 'score': 11.39}, {'connected_gene': 'FAM136A', 'score': 4.99}, {'connected_gene': 'ENSG00000231024', 'score': 0.34}, {'connected_gene': 'GC02P069822', 'score': 0.18}, {'connected_gene': 'ANXA4', 'score': 0.16}]
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	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	GH02I069739	69739662	69745592	2.25	[{'connected_gene': 'ANXA4', 'score': 574.23}, {'connected_gene': 'GMCL1', 'score': 11.58}, {'connected_gene': 'SNRNP27', 'score': 8.88}, {'connected_gene': 'GFPT1', 'score': 5.53}, {'connected_gene': 'FAM136A', 'score': 4.78}, {'connected_gene': 'ENSG00000231024', 'score': 0.31}, {'connected_gene': 'GC02P069822', 'score': 0.18}]
chr2	GH02I069732	69732688	69736613	1.3	[{'connected_gene': 'ANXA4', 'score': 11.97}, {'connected_gene': 'SNRNP27', 'score': 10.21}, {'connected_gene': 'FAM136A', 'score': 5.61}, {'connected_gene': 'ENSG00000231024', 'score': 0.34}, {'connected_gene': 'GC02P069822', 'score': 0.17}]
chr2	GH02I070120	70120869	70128400	2.23	[{'connected_gene': 'LINC01816', 'score': 550.77}, {'connected_gene': 'TIA1', 'score': 13.97}, {'connected_gene': 'ANKRD53', 'score': 12.46}, {'connected_gene': 'TEX261', 'score': 11.65}, {'connected_gene': 'FAM136A', 'score': 10.93}, {'connected_gene': 'PCYOX1', 'score': 9.84}, {'connected_gene': 'C2orf42', 'score': 9.81}, {'connected_gene': 'PCBP1-AS1', 'score': 9.49}, {'connected_gene': 'GC02P070121', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
chr2	GH02I070341	70341289	70341438	0.94	[{'connected_gene': 'BRD7P6', 'score': 550.77}, {'connected_gene': 'FAM136A', 'score': 0.28}]
chr2	GH02I070118	70118202	70120065	1.43	[{'connected_gene': 'GC02P070118', 'score': 550.77}, {'connected_gene': 'FAM136A', 'score': 9.54}, {'connected_gene': 'PCBP1-AS1', 'score': 8.87}, {'connected_gene': 'GC02P070121', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.06}]
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	GH02I070114	70114981	70117895	1.35	[{'connected_gene': 'GC02P070117', 'score': 550.77}, {'connected_gene': 'MXD1', 'score': 10.3}, {'connected_gene': 'SNRNP27', 'score': 10.3}, {'connected_gene': 'PCBP1-AS1', 'score': 10.22}, {'connected_gene': 'FAM136A', 'score': 9.52}, {'connected_gene': 'GC02P070113', 'score': 0.77}, {'connected_gene': 'GC02P069822', 'score': 0.06}]