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
ENST00000331456	[[49866033, 49866658], [49866890, 49866941], [49867049, 49867199], [49867452, 49867501], [49869348, 49869501], [49877204, 49877293], [49877716, 49877806], [49878417, 49878505], [49879258, 49879372], [49879885, 49879980], [49881233, 49881361], [49881973, 49882013], [49884957, 49885041], [49885575, 49885633], [49893788, 49894000]]	[[49866535, 49866658], [49866890, 49866941], [49867049, 49867199], [49867452, 49867501], [49869348, 49869501], [49877204, 49877293], [49877716, 49877806], [49878417, 49878505], [49879258, 49879372], [49879885, 49879980], [49881233, 49881361], [49881973, 49882013], [49884957, 49885041], [49885575, 49885633], [49893788, 49893886]]
ENST00000491060	[[49866053, 49866941], [49867049, 49867207]]	None
ENST00000473195	[[49866520, 49866658], [49866890, 49866941], [49867049, 49867199], [49867452, 49867501], [49877153, 49877293], [49877716, 49877806], [49881973, 49882013], [49884957, 49885041], [49885575, 49885633], [49893788, 49893982]]	[[49877786, 49877806], [49881973, 49882013], [49884957, 49885041], [49885575, 49885633], [49893788, 49893886]]
ENST00000469027	[[49866688, 49866941], [49867049, 49867199], [49867452, 49867501], [49869348, 49869501], [49877204, 49877293], [49877716, 49877806], [49884957, 49885041], [49885575, 49885633], [49893788, 49894007]]	[[49866857, 49866941], [49867049, 49867199], [49867452, 49867501], [49869348, 49869501], [49877204, 49877293], [49877716, 49877806], [49884957, 49885041], [49885575, 49885633], [49893788, 49893886]]
ENST00000475495	[[49869348, 49869501], [49877204, 49877293], [49877716, 49877985]]	None
ENST00000482582	[[49877241, 49877293], [49877716, 49877806], [49878417, 49878505], [49879258, 49879372], [49879885, 49879980], [49881233, 49881361], [49881973, 49882013], [49884957, 49884993], [49885575, 49885633], [49893788, 49893907]]	[[49877241, 49877293], [49877716, 49877806], [49878417, 49878505], [49879258, 49879372], [49879885, 49879980], [49881233, 49881361], [49881973, 49882013], [49884957, 49884993], [49885575, 49885633], [49893788, 49893886]]
ENST00000488860	[[49879918, 49879980], [49881233, 49881450], [49881973, 49882020]]	None
ENST00000482243	[[49879928, 49879980], [49881233, 49881361], [49881973, 49882013], [49884957, 49885041], [49885569, 49885633], [49893788, 49893997]]	[[49879928, 49879980], [49881233, 49881361], [49881973, 49882013], [49884957, 49885041], [49885569, 49885633], [49893788, 49893886]]
ENST00000477546	[[49880577, 49881361], [49881973, 49882013], [49884957, 49885041], [49885575, 49885633], [49893788, 49893997]]	None
ENST00000489948	[[49881148, 49881361], [49881973, 49882013], [49884957, 49884993], [49885575, 49885633], [49893788, 49893992]]	None
ENST00000473863	[[49881283, 49881450], [49881973, 49882013], [49884957, 49885041], [49885575, 49885633], [49893788, 49893992]]	None
NM_005879	[[49866027, 49866658], [49866890, 49866941], [49867049, 49867199], [49867452, 49867501], [49869348, 49869501], [49877204, 49877293], [49877716, 49877806], [49878417, 49878505], [49879258, 49879372], [49879885, 49879980], [49881233, 49881361], [49881973, 49882013], [49884957, 49885041], [49885575, 49885633], [49893788, 49893992]]	[[49866535, 49866658], [49866890, 49866941], [49867049, 49867199], [49867452, 49867501], [49869348, 49869501], [49877204, 49877293], [49877716, 49877806], [49878417, 49878505], [49879258, 49879372], [49879885, 49879980], [49881233, 49881361], [49881973, 49882013], [49884957, 49885041], [49885575, 49885633], [49893788, 49893886]]

Promoter

Chrom	Start	End	Description
chr3	49893942	49893953	CAGE_peak_2_at_TRAIP_5end
chr3	49893958	49894005	CAGE_peak_1_at_TRAIP_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I049843	49843970	49846425	0.81	[{'connected_gene': 'UBA7', 'score': 22.19}, {'connected_gene': 'GC03M049859', 'score': 0.39}, {'connected_gene': 'GC03M049858', 'score': 0.39}, {'connected_gene': 'TRAIP', 'score': 0.39}, {'connected_gene': 'GC03P049763', 'score': 0.18}, {'connected_gene': 'GC03P049762', 'score': 0.18}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3	GH03I049016	49016871	49023650	2.31	[{'connected_gene': 'DALRD3', 'score': 560.51}, {'connected_gene': 'GC03M049024', 'score': 550.77}, {'connected_gene': 'NDUFAF3', 'score': 550.77}, {'connected_gene': 'MIR425', 'score': 550.77}, {'connected_gene': 'MIR191', 'score': 550.77}, {'connected_gene': 'WDR6', 'score': 70.97}, {'connected_gene': 'ENSG00000235236', 'score': 54.16}, {'connected_gene': 'NICN1', 'score': 50.24}, {'connected_gene': 'ENSG00000223343', 'score': 41.28}, {'connected_gene': 'P4HTM', 'score': 40.21}, {'connected_gene': 'AMT', 'score': 39.47}, {'connected_gene': 'FCF1P2', 'score': 36.49}, {'connected_gene': 'QRICH1', 'score': 35.58}, {'connected_gene': 'RBM6', 'score': 33.32}, {'connected_gene': 'ZNF589', 'score': 31.51}, {'connected_gene': 'ATRIP', 'score': 27.01}, {'connected_gene': 'CCDC71', 'score': 20.54}, {'connected_gene': 'IP6K2', 'score': 13.52}, {'connected_gene': 'USP19', 'score': 12.5}, {'connected_gene': 'NME6', 'score': 11.81}, {'connected_gene': 'MRPS18AP1', 'score': 11.62}, {'connected_gene': 'ARIH2', 'score': 11.39}, {'connected_gene': 'QARS', 'score': 11.24}, {'connected_gene': 'ARIH2OS', 'score': 11.2}, {'connected_gene': 'TMEM89', 'score': 11.08}, {'connected_gene': 'ENSG00000271973', 'score': 10.17}, {'connected_gene': 'TRAIP', 'score': 9.95}, {'connected_gene': 'IP6K1', 'score': 9.66}, {'connected_gene': 'MST1', 'score': 4.47}]
chr3	GH03I050598	50598964	50614009	3.21	[{'connected_gene': 'CISH', 'score': 557.82}, {'connected_gene': 'MAPKAPK3', 'score': 554.96}, {'connected_gene': 'HEMK1', 'score': 34.01}, {'connected_gene': 'RBM5', 'score': 31.64}, {'connected_gene': 'RBM6', 'score': 31.48}, {'connected_gene': 'TMEM115', 'score': 23.58}, {'connected_gene': 'RAD54L2', 'score': 22.02}, {'connected_gene': 'SEMA3F-AS1', 'score': 15.35}, {'connected_gene': 'C3orf18', 'score': 14.08}, {'connected_gene': 'DOCK3', 'score': 11.29}, {'connected_gene': 'RASSF1', 'score': 10.86}, {'connected_gene': 'MANF', 'score': 10.68}, {'connected_gene': 'UBA7', 'score': 10.65}, {'connected_gene': 'NAT6', 'score': 10.24}, {'connected_gene': 'TRAIP', 'score': 9.95}, {'connected_gene': 'HYAL1', 'score': 3.89}, {'connected_gene': 'ENSG00000230454', 'score': 3.87}, {'connected_gene': 'ENSG00000280382', 'score': 0.44}]
chr3	GH03I049838	49838828	49841508	0.94	[{'connected_gene': 'WDR6', 'score': 34.11}, {'connected_gene': 'CDHR4', 'score': 29.86}, {'connected_gene': 'FAM212A', 'score': 22.53}, {'connected_gene': 'AMT', 'score': 20.57}, {'connected_gene': 'GC03M049859', 'score': 0.37}, {'connected_gene': 'GC03M049858', 'score': 0.37}, {'connected_gene': 'TRAIP', 'score': 0.37}, {'connected_gene': 'UBA7', 'score': 0.31}, {'connected_gene': 'GC03P049762', 'score': 0.18}, {'connected_gene': 'GC03P049763', 'score': 0.18}, {'connected_gene': 'GC03P049421', 'score': 0.05}]
chr3	GH03I049726	49726648	49727778	0.63	[{'connected_gene': 'PIR58688', 'score': 550.77}, {'connected_gene': 'PIR57159', 'score': 550.77}, {'connected_gene': 'PIR59970', 'score': 550.77}, {'connected_gene': 'GC03M049735', 'score': 550.77}, {'connected_gene': 'GC03M049731', 'score': 550.77}, {'connected_gene': 'GC03M049738', 'score': 550.77}, {'connected_gene': 'PIR51040', 'score': 550.77}, {'connected_gene': 'GC03M049732', 'score': 550.77}, {'connected_gene': 'PIR40022', 'score': 550.77}, {'connected_gene': 'PHF5EP', 'score': 11.82}, {'connected_gene': 'IP6K1', 'score': 11.79}, {'connected_gene': 'TRAIP', 'score': 10.4}, {'connected_gene': 'COX6CP14', 'score': 0.29}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3	GH03I049721	49721967	49726179	2.2	[{'connected_gene': 'PIR59970', 'score': 550.77}, {'connected_gene': 'GC03M049731', 'score': 550.77}, {'connected_gene': 'GC03P049723', 'score': 550.77}, {'connected_gene': 'GMPPB', 'score': 550.77}, {'connected_gene': 'PIR51040', 'score': 550.77}, {'connected_gene': 'GC03M049732', 'score': 550.77}, {'connected_gene': 'FAM212A', 'score': 23.36}, {'connected_gene': 'AMT', 'score': 14.82}, {'connected_gene': 'PHF5EP', 'score': 11.8}, {'connected_gene': 'IP6K1', 'score': 11.78}, {'connected_gene': 'TRAIP', 'score': 10.39}, {'connected_gene': 'MST1', 'score': 5.93}, {'connected_gene': 'GC03P049421', 'score': 0.06}]
chr3	GH03I049855	49855713	49857275	1.95	[{'connected_gene': 'GC03M049859', 'score': 550.77}, {'connected_gene': 'GC03M049858', 'score': 550.77}, {'connected_gene': 'TRAIP', 'score': 550.77}, {'connected_gene': 'QRICH1', 'score': 43.47}, {'connected_gene': 'USP19', 'score': 38.41}, {'connected_gene': 'CDHR4', 'score': 27.83}, {'connected_gene': 'CCDC36', 'score': 22.08}, {'connected_gene': 'ENSG00000225399', 'score': 21.22}, {'connected_gene': 'SEMA3F-AS1', 'score': 14.73}, {'connected_gene': 'RBM6', 'score': 14.62}, {'connected_gene': 'RBM5', 'score': 13.81}, {'connected_gene': 'RHOA-IT1', 'score': 13.57}, {'connected_gene': 'TMEM115', 'score': 12.88}, {'connected_gene': 'RASSF1', 'score': 12.34}, {'connected_gene': 'CCDC71', 'score': 12.26}, {'connected_gene': 'QARS', 'score': 10.84}, {'connected_gene': 'IMPDH2', 'score': 10.4}, {'connected_gene': 'ENSG00000235236', 'score': 10.3}, {'connected_gene': 'ARIH2', 'score': 9.99}, {'connected_gene': 'NAT6', 'score': 9.86}, {'connected_gene': 'HEMK1', 'score': 9.68}, {'connected_gene': 'UBA7', 'score': 0.26}, {'connected_gene': 'GC03P049762', 'score': 0.16}, {'connected_gene': 'GC03P049763', 'score': 0.16}, {'connected_gene': 'GC03P049421', 'score': 0.05}]