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
ENST00000284770	[[186422850, 186423637], [186425628, 186425740], [186427675, 186427806], [186429452, 186429716], [186435423, 186435491], [186444515, 186444600], [186446173, 186446325], [186456495, 186456662]]	[[186423447, 186423637], [186425628, 186425740], [186427675, 186427806], [186429452, 186429716], [186435423, 186435491], [186444515, 186444600], [186446173, 186446325], [186456495, 186456588]]
ENST00000514142	[[186422904, 186423637], [186425628, 186425740], [186427675, 186427806], [186434710, 186438871]]	None
ENST00000284771	[[186422904, 186423637], [186425628, 186425740], [186427675, 186427806], [186435856, 186436044], [186444515, 186444600], [186446173, 186446325], [186456495, 186456766]]	[[186423447, 186423637], [186425628, 186425740], [186427675, 186427806], [186435856, 186436044], [186444515, 186444600], [186446173, 186446325], [186456495, 186456588]]
ENST00000284767	[[186422910, 186423637], [186425628, 186425740], [186427675, 186427806], [186429452, 186429716], [186435423, 186435491], [186435856, 186436044], [186444515, 186444600], [186446173, 186446325], [186456495, 186456656]]	[[186435439, 186435491], [186435856, 186436044], [186444515, 186444600], [186446173, 186446325], [186456495, 186456588]]
ENST00000514308	[[186423409, 186423637], [186425628, 186425740], [186427675, 186428241]]	None
ENST00000505886	[[186425698, 186425740], [186427675, 186427806], [186435856, 186436044], [186444515, 186444600], [186456495, 186456620]]	[[186444564, 186444600], [186456495, 186456588]]
ENST00000512293	[[186429454, 186429716], [186435423, 186435491], [186444515, 186444600], [186456495, 186456661]]	[[186444564, 186444600], [186456495, 186456588]]
ENST00000504011	[[186433247, 186435491], [186435856, 186436044], [186444515, 186444600], [186446173, 186446325], [186456495, 186456645]]	None
ENST00000504355	[[186435299, 186435491], [186446173, 186446325], [186456495, 186456661]]	None
ENST00000512380	[[186435468, 186436044], [186444515, 186444600], [186446173, 186446276]]	None
ENST00000515261	[[186444296, 186444600], [186446173, 186446325], [186456495, 186456661]]	None
NM_001114107	[[186421813, 186423637], [186425628, 186425740], [186427675, 186427806], [186435856, 186436044], [186444515, 186444600], [186446173, 186446325], [186456495, 186456712]]	[[186423447, 186423637], [186425628, 186425740], [186427675, 186427806], [186435856, 186436044], [186444515, 186444600], [186446173, 186446325], [186456495, 186456588]]
NM_014476	[[186421813, 186423637], [186425628, 186425740], [186427675, 186427806], [186429452, 186429716], [186435423, 186435491], [186444515, 186444600], [186446173, 186446325], [186456495, 186456712]]	[[186423447, 186423637], [186425628, 186425740], [186427675, 186427806], [186429452, 186429716], [186435423, 186435491], [186444515, 186444600], [186446173, 186446325], [186456495, 186456588]]
NM_001257962	[[186421813, 186423637], [186425628, 186425740], [186427675, 186427806], [186435423, 186435491], [186444515, 186444600], [186446173, 186446325], [186456495, 186456712]]	[[186423447, 186423637], [186425628, 186425740], [186427675, 186427806], [186435423, 186435491], [186444515, 186444600], [186446173, 186446325], [186456495, 186456588]]
NR_047562	[[186421813, 186423637], [186425628, 186425740], [186427675, 186427806], [186444515, 186444600], [186446173, 186446325], [186456495, 186456712]]	None
NM_001257963	[[186421813, 186423637], [186425628, 186425740], [186427675, 186427806], [186435423, 186435491], [186456495, 186456712]]	[[186423447, 186423637], [186425628, 186425740], [186427675, 186427806], [186435423, 186435491], [186456495, 186456588]]

Promoter

Chrom	Start	End	Description
chr4	186456610	186456621	CAGE_peak_2_at_PDLIM3_5end
chr4	186456652	186456668	CAGE_peak_1_at_PDLIM3_5end
chr4	186456789	186456794	CAGE_peak_4_at_PDLIM3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I185800	185800415	185800659	0.54	[{'connected_gene': 'SORBS2', 'score': 5.17}, {'connected_gene': 'PDLIM3', 'score': 1.66}, {'connected_gene': 'GC04M185710', 'score': 0.16}, {'connected_gene': 'ENSG00000207497', 'score': 0.16}, {'connected_gene': 'LOC101928929', 'score': 0.15}]
chr4	GH04I185542	185542466	185543305	0.4	[{'connected_gene': 'CENPU', 'score': 4.4}, {'connected_gene': 'PDLIM3', 'score': 0.44}, {'connected_gene': 'ENSG00000233110', 'score': 0.25}]
chr4	GH04I185575	185575420	185578648	0.97	[{'connected_gene': 'PDLIM3', 'score': 12.04}, {'connected_gene': 'SORBS2', 'score': 4.82}, {'connected_gene': 'ENSG00000233110', 'score': 0.39}]
chr4	GH04I185597	185597707	185597816	1	[{'connected_gene': 'PDLIM3', 'score': 10.73}, {'connected_gene': 'ENSG00000233110', 'score': 0.44}, {'connected_gene': 'ENSG00000235902', 'score': 0.2}, {'connected_gene': 'SORBS2', 'score': 0.05}]
chr4	GH04I185540	185540983	185541863	0.51	[{'connected_gene': 'PDLIM3', 'score': 5.85}, {'connected_gene': 'CFAP97', 'score': 4.8}, {'connected_gene': 'ENSG00000233110', 'score': 0.25}]
chr4	GH04I185565	185565668	185571111	1.46	[{'connected_gene': 'PDLIM3', 'score': 21.19}, {'connected_gene': 'UFSP2', 'score': 1.89}, {'connected_gene': 'ENSG00000233110', 'score': 0.37}]
chr4	GH04I185518	185518476	185520658	0.38	[{'connected_gene': 'PDLIM3', 'score': 5.98}, {'connected_gene': 'GC04M185529', 'score': 0.39}, {'connected_gene': 'CCDC110', 'score': 0.25}]
chr4	GH04I185503	185503804	185506247	1.36	[{'connected_gene': 'PDLIM3', 'score': 16.79}, {'connected_gene': 'GC04M185529', 'score': 0.31}, {'connected_gene': 'CCDC110', 'score': 0.29}]
chr4	GH04I185512	185512851	185514596	1.04	[{'connected_gene': 'PDLIM3', 'score': 12.71}, {'connected_gene': 'GC04M185529', 'score': 0.37}, {'connected_gene': 'CCDC110', 'score': 0.26}]
chr4	GH04I185499	185499907	185501656	0.46	[{'connected_gene': 'PDLIM3', 'score': 11.47}, {'connected_gene': 'GC04M185529', 'score': 0.31}, {'connected_gene': 'CCDC110', 'score': 0.31}]
chr4	GH04I185524	185524033	185526327	0.86	[{'connected_gene': 'PDLIM3', 'score': 6.13}, {'connected_gene': 'GC04M185529', 'score': 0.77}, {'connected_gene': 'CCDC110', 'score': 0.23}]
chr4	GH04I185531	185531187	185536643	2.23	[{'connected_gene': 'PDLIM3', 'score': 557.18}, {'connected_gene': 'PRIMPOL', 'score': 12.47}, {'connected_gene': 'ENSG00000233110', 'score': 11.16}, {'connected_gene': 'FAM149A', 'score': 4.51}, {'connected_gene': 'GC04M185529', 'score': 0.77}]
chr4	GH04I185555	185554607	185554756	0.51	[{'connected_gene': 'PDLIM3', 'score': 0.37}, {'connected_gene': 'ENSG00000233110', 'score': 0.29}]
chr4	GH04I185548	185548595	185549265	0.31	[{'connected_gene': 'PDLIM3', 'score': 8.15}, {'connected_gene': 'ENSG00000233110', 'score': 0.28}]
chr4	GH04I185571	185571717	185572203	0.2	[{'connected_gene': 'PDLIM3', 'score': 11.5}, {'connected_gene': 'ENSG00000233110', 'score': 0.37}]
chr4	GH04I185559	185559140	185560805	1.42	[{'connected_gene': 'PDLIM3', 'score': 12.63}, {'connected_gene': 'ENSG00000233110', 'score': 12.01}]
chr4	GH04I185579	185579464	185585391	0.57	[{'connected_gene': 'PDLIM3', 'score': 16.76}, {'connected_gene': 'ENSG00000233110', 'score': 0.44}]
chr4	GH04I185573	185573087	185574761	1.56	[{'connected_gene': 'PDLIM3', 'score': 19.94}, {'connected_gene': 'ENSG00000233110', 'score': 0.39}]
chr4	GH04I185550	185550486	185552411	0.2	[{'connected_gene': 'PDLIM3', 'score': 7.82}, {'connected_gene': 'ENSG00000233110', 'score': 0.28}]
chr4	GH04I185553	185553572	185554129	0.2	[{'connected_gene': 'PDLIM3', 'score': 0.37}, {'connected_gene': 'ENSG00000233110', 'score': 0.29}]
chr4	GH04I185554	185554367	185554516	0.51	[{'connected_gene': 'PDLIM3', 'score': 0.37}, {'connected_gene': 'ENSG00000233110', 'score': 0.29}]
chr4	GH04I185563	185563137	185564254	0.2	[{'connected_gene': 'PDLIM3', 'score': 12.6}, {'connected_gene': 'ENSG00000233110', 'score': 12.24}]
chr4	GH04I185587	185587107	185588196	1.05	[{'connected_gene': 'ENSG00000233110', 'score': 550.77}, {'connected_gene': 'UFSP2', 'score': 4.66}, {'connected_gene': 'PDLIM3', 'score': 0.23}, {'connected_gene': 'SORBS2', 'score': 0.05}]
chr4	GH04I185529	185529326	185530184	0.2	[{'connected_gene': 'GC04M185529', 'score': 550.77}, {'connected_gene': 'PDLIM3', 'score': 0.44}, {'connected_gene': 'CCDC110', 'score': 0.22}]
chr4	GH04I185528	185528478	185528930	0.2	[{'connected_gene': 'GC04M185529', 'score': 550.77}, {'connected_gene': 'PDLIM3', 'score': 0.44}, {'connected_gene': 'CCDC110', 'score': 0.22}]
chr4	GH04I185526	185526535	185526943	0.31	[{'connected_gene': 'GC04M185529', 'score': 0.77}, {'connected_gene': 'PDLIM3', 'score': 0.44}, {'connected_gene': 'CCDC110', 'score': 0.23}]