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
ENST00000254630	[[86333304, 86333474], [86335472, 86335525], [86335622, 86335659], [86338235, 86338281], [86343652, 86343721], [86344177, 86344282], [86346043, 86346167], [86348601, 86348717], [86350823, 86350885], [86352117, 86352205], [86352577, 86352638], [86352917, 86353003], [86354283, 86354428], [86355063, 86355114], [86357770, 86357860], [86358200, 86358229], [86359440, 86359547], [86360300, 86360379], [86360468, 86360559], [86361414, 86361500], [86361961, 86362110], [86363643, 86363685], [86364104, 86364263], [86364591, 86369280]]	[[86333370, 86333474], [86335472, 86335525], [86335622, 86335659], [86338235, 86338281], [86343652, 86343721], [86344177, 86344282], [86346043, 86346167], [86348601, 86348717], [86350823, 86350885], [86352117, 86352205], [86352577, 86352638], [86352917, 86353003], [86354283, 86354428], [86355063, 86355114], [86357770, 86357860], [86358200, 86358229], [86359440, 86359547], [86360300, 86360379], [86360468, 86360559], [86361414, 86361500], [86361961, 86362110], [86363643, 86363685], [86364104, 86364263], [86364591, 86364682]]
ENST00000409326	[[86333345, 86333474], [86334240, 86334323], [86335472, 86335525], [86335622, 86335659], [86338235, 86338281], [86343652, 86343721], [86344177, 86344282]]	[[86333370, 86333474], [86334240, 86334323], [86335472, 86335522]]
ENST00000465560	[[86333345, 86333474], [86335472, 86335525], [86335622, 86335659], [86338235, 86338281], [86343652, 86343721], [86344177, 86344282], [86346043, 86346167], [86346666, 86346737], [86348601, 86348714]]	None
ENST00000409783	[[86333346, 86333474], [86335472, 86335525], [86335622, 86335659], [86338235, 86338281], [86343652, 86343721], [86344177, 86344282], [86348601, 86348718]]	[[86333370, 86333474], [86335472, 86335525], [86335622, 86335659], [86338235, 86338281], [86343652, 86343721], [86344177, 86344282], [86348601, 86348718]]
ENST00000488801	[[86333348, 86333474], [86335472, 86335525], [86335622, 86335659], [86338235, 86338281], [86338912, 86339218]]	None
ENST00000418628	[[86333348, 86333474], [86335472, 86335525], [86335622, 86335659], [86338100, 86338281], [86343652, 86343721], [86344177, 86344243]]	[[86333370, 86333474], [86335472, 86335525], [86335622, 86335659], [86338100, 86338116]]
ENST00000409277	[[86333361, 86333474], [86335472, 86335525], [86335622, 86335659], [86338235, 86338281], [86343652, 86343721], [86344177, 86344282], [86348601, 86348717], [86350823, 86350885], [86352117, 86352205], [86352577, 86352638], [86352917, 86353003], [86354283, 86354313]]	[[86333370, 86333474], [86335472, 86335525], [86335622, 86335659], [86338235, 86338281], [86343652, 86343721], [86344177, 86344282], [86348601, 86348717], [86350823, 86350885], [86352117, 86352152]]
ENST00000473829	[[86333366, 86333474], [86335472, 86335525], [86335622, 86336048]]	None
ENST00000483925	[[86335467, 86335525], [86335622, 86335659], [86338235, 86338281], [86343652, 86343721], [86344177, 86344282], [86346043, 86346304]]	None
ENST00000484203	[[86348587, 86348717], [86350823, 86350885], [86352117, 86352205], [86352577, 86352638], [86352917, 86353003], [86354283, 86354784]]	None
ENST00000480102	[[86348616, 86348717], [86350823, 86350885], [86352117, 86352205], [86352577, 86352638], [86354283, 86354560]]	None
ENST00000464541	[[86354841, 86355114], [86357770, 86358229], [86359440, 86359547], [86360300, 86360351]]	None
ENST00000476215	[[86354994, 86355114], [86357770, 86357860], [86358200, 86358229], [86359440, 86359955]]	None
ENST00000487043	[[86355052, 86355114], [86357770, 86357860], [86358200, 86358229], [86359440, 86359547], [86360300, 86360379], [86360468, 86360559], [86361414, 86361500], [86361961, 86362110], [86363643, 86364004]]	None
ENST00000469585	[[86355071, 86355114], [86357770, 86357860], [86358200, 86358229], [86359440, 86359547], [86360300, 86360379], [86360468, 86360559], [86361414, 86361500], [86361961, 86362321]]	None
ENST00000493430	[[86358012, 86358229], [86359440, 86359547], [86360300, 86360559], [86361418, 86361500], [86361961, 86362078]]	None
ENST00000467273	[[86359946, 86360379], [86360468, 86360559], [86361414, 86361500], [86361961, 86362108]]	None
ENST00000494323	[[86360000, 86360186], [86360300, 86360379], [86360468, 86360559], [86361414, 86361500], [86361961, 86362059]]	None
ENST00000472044	[[86360391, 86360559], [86361414, 86361500], [86361961, 86362000]]	None
ENST00000477520	[[86360445, 86360559], [86361418, 86361500], [86361961, 86362321]]	None
NM_017952	[[86333304, 86333474], [86335472, 86335525], [86335622, 86335659], [86338235, 86338281], [86343652, 86343721], [86344177, 86344282], [86346043, 86346167], [86348601, 86348717], [86350823, 86350885], [86352117, 86352205], [86352577, 86352638], [86352917, 86353003], [86354283, 86354428], [86355063, 86355114], [86357770, 86357860], [86358200, 86358229], [86359440, 86359547], [86360300, 86360379], [86360468, 86360559], [86361414, 86361500], [86361961, 86362110], [86363643, 86363685], [86364104, 86364263], [86364591, 86369280]]	[[86333370, 86333474], [86335472, 86335525], [86335622, 86335659], [86338235, 86338281], [86343652, 86343721], [86344177, 86344282], [86346043, 86346167], [86348601, 86348717], [86350823, 86350885], [86352117, 86352205], [86352577, 86352638], [86352917, 86353003], [86354283, 86354428], [86355063, 86355114], [86357770, 86357860], [86358200, 86358229], [86359440, 86359547], [86360300, 86360379], [86360468, 86360559], [86361414, 86361500], [86361961, 86362110], [86363643, 86363685], [86364104, 86364263], [86364591, 86364682]]

Promoter

Chrom	Start	End	Description
chr2	86333301	86333311	CAGE_peak_3_at_PTCD3_5end
chr2	86333340	86333372	CAGE_peak_1_at_PTCD3_5end
chr2	86359764	86359766	CAGE_peak_2_at_PTCD3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I085740	85740802	85746199	1.7	[{'connected_gene': 'SNORD94', 'score': 35.54}, {'connected_gene': 'PTCD3', 'score': 22.2}, {'connected_gene': 'KDM3A', 'score': 20.74}, {'connected_gene': 'POLR1A', 'score': 18.96}, {'connected_gene': 'USP39', 'score': 18.55}, {'connected_gene': 'LOC100996506', 'score': 13.37}, {'connected_gene': 'C2orf68', 'score': 13.33}, {'connected_gene': 'LOC105374845', 'score': 12.4}, {'connected_gene': 'ELMOD3', 'score': 12.11}, {'connected_gene': 'MAT2A', 'score': 10.19}, {'connected_gene': 'ATOH8', 'score': 9.51}, {'connected_gene': 'VAMP5', 'score': 1.8}, {'connected_gene': 'TMEM150A', 'score': 1.75}, {'connected_gene': 'GC02M085730', 'score': 0.37}, {'connected_gene': 'RNU1-38P', 'score': 0.37}]
chr2	GH02I086141	86141058	86141207	0.57	[{'connected_gene': 'SNORD94', 'score': 0.44}, {'connected_gene': 'ENSG00000200241', 'score': 0.37}, {'connected_gene': 'GC02M086160', 'score': 0.37}, {'connected_gene': 'PTCD3', 'score': 0.29}]
chr2	GH02I085236	85236959	85238827	1.39	[{'connected_gene': 'SNORD94', 'score': 46.06}, {'connected_gene': 'C2orf68', 'score': 24.75}, {'connected_gene': 'ELMOD3', 'score': 23.21}, {'connected_gene': 'LOC100996506', 'score': 22.77}, {'connected_gene': 'USP39', 'score': 21.5}, {'connected_gene': 'RNU6-674P', 'score': 12.1}, {'connected_gene': 'TCF7L1', 'score': 11.95}, {'connected_gene': 'PTCD3', 'score': 10.8}, {'connected_gene': 'POLR1A', 'score': 10.02}, {'connected_gene': 'MAT2A', 'score': 9.92}, {'connected_gene': 'SH2D6', 'score': 6.71}, {'connected_gene': 'PIR49587', 'score': 0.77}, {'connected_gene': 'LOC105374839', 'score': 0.77}]
chr2	GH02I086440	86440207	86443843	2.36	[{'connected_gene': 'KDM3A', 'score': 571.69}, {'connected_gene': 'GC02M086437', 'score': 550.77}, {'connected_gene': 'SNORD94', 'score': 78.34}, {'connected_gene': 'LOC102724642', 'score': 68.26}, {'connected_gene': 'C2orf68', 'score': 34.8}, {'connected_gene': 'ENSG00000231259', 'score': 34.4}, {'connected_gene': 'LOC100420889', 'score': 29.61}, {'connected_gene': 'USP39', 'score': 21.66}, {'connected_gene': 'PTCD3', 'score': 13.64}, {'connected_gene': 'LOC105374845', 'score': 11.35}, {'connected_gene': 'CHMP3', 'score': 10.68}, {'connected_gene': 'POLR1A', 'score': 10.23}, {'connected_gene': 'MAT2A', 'score': 10.13}, {'connected_gene': 'RNF103', 'score': 9.73}, {'connected_gene': 'MRPL35', 'score': 6.32}, {'connected_gene': 'GC02P086423', 'score': 0.37}, {'connected_gene': 'GC02M086424', 'score': 0.31}]
chr2	GH02I085273	85273912	85275210	1.18	[{'connected_gene': 'PTCD3', 'score': 12.04}, {'connected_gene': 'TCF7L1', 'score': 11.69}, {'connected_gene': 'TGOLN2', 'score': 4.47}, {'connected_gene': 'ENSG00000230299', 'score': 0.39}, {'connected_gene': 'GC02M085296', 'score': 0.37}]
chr2	GH02I086065	86065718	86065867	0.2	[{'connected_gene': 'PTCD3', 'score': 11.8}, {'connected_gene': 'POLR1A', 'score': 11.8}, {'connected_gene': 'RNU1-38P', 'score': 11.39}, {'connected_gene': 'LOC284950', 'score': 11.1}, {'connected_gene': 'GC02M086068', 'score': 0.77}, {'connected_gene': 'GC02M086022', 'score': 0.26}]
chr2	GH02I086104	86104730	86107906	2.07	[{'connected_gene': 'POLR1A', 'score': 586.84}, {'connected_gene': 'PTCD3', 'score': 550.77}, {'connected_gene': 'SNORD94', 'score': 26.82}, {'connected_gene': 'ENSG00000231259', 'score': 14.53}, {'connected_gene': 'LOC105374845', 'score': 11.76}, {'connected_gene': 'C2orf68', 'score': 11.06}, {'connected_gene': 'LOC100996506', 'score': 10.81}, {'connected_gene': 'USP39', 'score': 10.43}, {'connected_gene': 'MRPL35', 'score': 4.81}, {'connected_gene': 'PIR61452', 'score': 0.37}]
chr2	GH02I086061	86061752	86062399	0.62	[{'connected_gene': 'POLR1A', 'score': 41.69}, {'connected_gene': 'PTCD3', 'score': 11.8}, {'connected_gene': 'RNU1-38P', 'score': 11.4}, {'connected_gene': 'LOC284950', 'score': 11.1}, {'connected_gene': 'GC02M086068', 'score': 0.44}, {'connected_gene': 'GC02M086022', 'score': 0.28}]
chr2	GH02I086066	86066140	86066304	0.43	[{'connected_gene': 'POLR1A', 'score': 17.84}, {'connected_gene': 'PTCD3', 'score': 11.81}, {'connected_gene': 'RNU1-38P', 'score': 11.39}, {'connected_gene': 'LOC284950', 'score': 11.1}, {'connected_gene': 'GC02M086068', 'score': 0.77}, {'connected_gene': 'GC02M086022', 'score': 0.26}]
chr2	GH02I086113	86113463	86115722	0.31	[{'connected_gene': 'POLR1A', 'score': 40.34}, {'connected_gene': 'IMMT', 'score': 29.44}, {'connected_gene': 'SNORD94', 'score': 12.19}, {'connected_gene': 'RNU1-38P', 'score': 10.18}, {'connected_gene': 'ENSG00000273080', 'score': 4.84}, {'connected_gene': 'MRPL35', 'score': 4.83}, {'connected_gene': 'PTCD3', 'score': 0.44}, {'connected_gene': 'PIR61452', 'score': 0.39}]
chr2	GH02I086032	86032903	86042385	1.58	[{'connected_gene': 'POLR1A', 'score': 20.33}, {'connected_gene': 'IMMT', 'score': 19.04}, {'connected_gene': 'KDM3A', 'score': 18.0}, {'connected_gene': 'USP39', 'score': 15.36}, {'connected_gene': 'TCF7L1', 'score': 12.7}, {'connected_gene': 'LOC105374845', 'score': 12.03}, {'connected_gene': 'LOC284950', 'score': 11.06}, {'connected_gene': 'ATOH8', 'score': 10.93}, {'connected_gene': 'RNU1-38P', 'score': 10.68}, {'connected_gene': 'SNORD94', 'score': 10.2}, {'connected_gene': 'MRPL35', 'score': 10.1}, {'connected_gene': 'ELMOD3', 'score': 5.15}, {'connected_gene': 'GNLY', 'score': 4.65}, {'connected_gene': 'PLGLB1', 'score': 4.22}, {'connected_gene': 'PTCD3', 'score': 2.16}, {'connected_gene': 'GC02M086022', 'score': 0.39}, {'connected_gene': 'GC02M086068', 'score': 0.29}]
chr2	GH02I086714	86714201	86715799	0.74	[{'connected_gene': 'LOC102724642', 'score': 19.04}, {'connected_gene': 'SNORD94', 'score': 15.7}, {'connected_gene': 'ENSG00000231259', 'score': 15.23}, {'connected_gene': 'LOC100420889', 'score': 13.38}, {'connected_gene': 'LOC730268', 'score': 11.64}, {'connected_gene': 'PTCD3', 'score': 10.8}, {'connected_gene': 'LOC105374845', 'score': 10.22}, {'connected_gene': 'RMND5A', 'score': 7.71}, {'connected_gene': 'RNF103-CHMP3', 'score': 0.44}, {'connected_gene': 'GC02M086689', 'score': 0.34}, {'connected_gene': 'GC02P086686', 'score': 0.31}]