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
ENST00000376065	[[103249352, 103249553], [103257142, 103257271], [103266450, 103266546], [103268745, 103268850], [103271071, 103271196], [103275226, 103275390], [103279361, 103279516], [103280197, 103280274], [103281831, 103281959], [103282445, 103282545], [103286299, 103286448], [103287936, 103288052], [103288573, 103288742], [103289431, 103289589], [103290588, 103290665], [103292619, 103292726], [103295571, 103295726], [103296906, 103297023], [103297258, 103297359], [103298643, 103298740], [103299556, 103299694], [103301256, 103301501], [103301757, 103301836], [103309405, 103309557], [103315997, 103316094], [103317144, 103317275], [103326632, 103326840], [103328645, 103328765], [103330576, 103330811]]	[[103249388, 103249553], [103257142, 103257271], [103266450, 103266546], [103268745, 103268850], [103271071, 103271196], [103275226, 103275390], [103279361, 103279516], [103280197, 103280274], [103281831, 103281959], [103282445, 103282545], [103286299, 103286448], [103287936, 103288052], [103288573, 103288742], [103289431, 103289589], [103290588, 103290665], [103292619, 103292726], [103295571, 103295726], [103296906, 103297023], [103297258, 103297359], [103298643, 103298740], [103299556, 103299694], [103301256, 103301501], [103301757, 103301836], [103309405, 103309557], [103315997, 103316094], [103317144, 103317275], [103326632, 103326840], [103328645, 103328765], [103330576, 103330666]]
ENST00000376052	[[103249372, 103249553], [103257142, 103257271], [103266450, 103266546], [103268745, 103268850], [103271071, 103271196], [103275226, 103275390], [103279361, 103279516], [103280197, 103280274], [103281831, 103281959], [103282445, 103282545], [103286299, 103286448], [103287936, 103288052], [103288573, 103288742], [103289431, 103289589], [103290588, 103290665], [103292619, 103292726], [103295571, 103295726], [103296906, 103297023], [103297258, 103297359], [103298643, 103298740], [103299556, 103299694], [103301256, 103301501], [103301757, 103301836], [103303708, 103303747], [103309405, 103309557], [103315997, 103316094], [103317144, 103317275], [103326632, 103326840], [103328645, 103328765], [103330576, 103331521]]	[[103249388, 103249553], [103257142, 103257271], [103266450, 103266546], [103268745, 103268850], [103271071, 103271196], [103275226, 103275390], [103279361, 103279516], [103280197, 103280274], [103281831, 103281959], [103282445, 103282545], [103286299, 103286448], [103287936, 103288052], [103288573, 103288742], [103289431, 103289589], [103290588, 103290665], [103292619, 103292726], [103295571, 103295726], [103296906, 103297023], [103297258, 103297359], [103298643, 103298740], [103299556, 103299694], [103301256, 103301501], [103301757, 103301836], [103303708, 103303747], [103309405, 103309557], [103315997, 103316094], [103317144, 103317275], [103326632, 103326840], [103328645, 103328765], [103330576, 103330666]]
ENST00000490010	[[103249382, 103249553], [103257142, 103257271], [103259981, 103260372]]	None
ENST00000496126	[[103279249, 103279516], [103280197, 103280262]]	None
ENST00000493770	[[103279495, 103279516], [103280197, 103280274], [103281831, 103281959], [103282445, 103282545], [103283629, 103283878]]	None
ENST00000490420	[[103301404, 103301836], [103309405, 103309475]]	None
ENST00000466153	[[103307291, 103307357], [103309405, 103309557], [103315997, 103316094], [103317144, 103317275], [103326632, 103326840], [103328645, 103328765], [103330576, 103330713]]	None
ENST00000482393	[[103309331, 103309557], [103315997, 103316094], [103317144, 103317286], [103320107, 103320233], [103326632, 103326761]]	None
NM_003291	[[103249285, 103249553], [103257142, 103257271], [103266450, 103266546], [103268745, 103268850], [103271071, 103271196], [103275226, 103275390], [103279361, 103279516], [103280197, 103280274], [103281831, 103281959], [103282445, 103282545], [103286299, 103286448], [103287936, 103288052], [103288573, 103288742], [103289431, 103289589], [103290588, 103290665], [103292619, 103292726], [103295571, 103295726], [103296906, 103297023], [103297258, 103297359], [103298643, 103298740], [103299556, 103299694], [103301256, 103301501], [103301757, 103301836], [103309405, 103309557], [103315997, 103316094], [103317144, 103317275], [103326632, 103326840], [103328645, 103328765], [103330576, 103332308]]	[[103249388, 103249553], [103257142, 103257271], [103266450, 103266546], [103268745, 103268850], [103271071, 103271196], [103275226, 103275390], [103279361, 103279516], [103280197, 103280274], [103281831, 103281959], [103282445, 103282545], [103286299, 103286448], [103287936, 103288052], [103288573, 103288742], [103289431, 103289589], [103290588, 103290665], [103292619, 103292726], [103295571, 103295726], [103296906, 103297023], [103297258, 103297359], [103298643, 103298740], [103299556, 103299694], [103301256, 103301501], [103301757, 103301836], [103309405, 103309557], [103315997, 103316094], [103317144, 103317275], [103326632, 103326840], [103328645, 103328765], [103330576, 103330666]]
NM_001330588	[[103249285, 103249553], [103257142, 103257271], [103266450, 103266546], [103268745, 103268850], [103271071, 103271196], [103275226, 103275390], [103279361, 103279516], [103280197, 103280274], [103281831, 103281959], [103282445, 103282545], [103286299, 103286448], [103287936, 103288052], [103288573, 103288742], [103289431, 103289589], [103290588, 103290665], [103292619, 103292726], [103295571, 103295726], [103296906, 103297023], [103297258, 103297359], [103298643, 103298740], [103299556, 103299694], [103301256, 103301501], [103301757, 103301836], [103303708, 103303747], [103309405, 103309557], [103315997, 103316094], [103317144, 103317275], [103326632, 103326840], [103328645, 103328765], [103330576, 103332308]]	[[103249388, 103249553], [103257142, 103257271], [103266450, 103266546], [103268745, 103268850], [103271071, 103271196], [103275226, 103275390], [103279361, 103279516], [103280197, 103280274], [103281831, 103281959], [103282445, 103282545], [103286299, 103286448], [103287936, 103288052], [103288573, 103288742], [103289431, 103289589], [103290588, 103290665], [103292619, 103292726], [103295571, 103295726], [103296906, 103297023], [103297258, 103297359], [103298643, 103298740], [103299556, 103299694], [103301256, 103301501], [103301757, 103301836], [103303708, 103303747], [103309405, 103309557], [103315997, 103316094], [103317144, 103317275], [103326632, 103326840], [103328645, 103328765], [103330576, 103330666]]

Promoter

Chrom	Start	End	Description
chr13	103249285	103249300	CAGE_peak_3_at_TPP2_5end
chr13	103249302	103249321	CAGE_peak_2_at_TPP2_5end
chr13	103249322	103249379	CAGE_peak_1_at_TPP2_5end
chr13	103249382	103249386	CAGE_peak_4_at_TPP2_5end
chr13	103309282	103309310	CAGE_peak_9_at_TPP2_5end
chr13	103309321	103309337	CAGE_peak_11_at_TPP2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr13	GH13I102772	102772425	102774978	1.93	[{'connected_gene': 'TEX30', 'score': 550.77}, {'connected_gene': 'PIR36999', 'score': 550.77}, {'connected_gene': 'ERCC5', 'score': 28.49}, {'connected_gene': 'TPP2', 'score': 25.19}, {'connected_gene': 'METTL21EP', 'score': 6.29}]
chr13	GH13I102594	102594713	102599922	2.53	[{'connected_gene': 'TPP2', 'score': 570.71}, {'connected_gene': 'ERCC5', 'score': 20.71}, {'connected_gene': 'METTL21C', 'score': 7.86}, {'connected_gene': 'GC13P102663', 'score': 0.2}]
chr13	GH13I102606	102606155	102606887	0.82	[{'connected_gene': 'BIVM', 'score': 10.68}, {'connected_gene': 'ERCC5', 'score': 10.66}, {'connected_gene': 'LINC00283', 'score': 10.22}, {'connected_gene': 'CCDC168', 'score': 10.21}, {'connected_gene': 'METTL21C', 'score': 6.75}, {'connected_gene': 'TPP2', 'score': 0.44}, {'connected_gene': 'GC13P102663', 'score': 0.22}]
chr13	GH13I102844	102844531	102848468	2.28	[{'connected_gene': 'ERCC5', 'score': 572.91}, {'connected_gene': 'BIVM', 'score': 24.61}, {'connected_gene': 'TEX30', 'score': 11.39}, {'connected_gene': 'METTL21EP', 'score': 11.25}, {'connected_gene': 'TPP2', 'score': 10.79}, {'connected_gene': 'CCDC168', 'score': 10.68}, {'connected_gene': 'LINC00283', 'score': 10.66}, {'connected_gene': 'METTL21C', 'score': 9.91}, {'connected_gene': 'GC13P102835', 'score': 0.39}, {'connected_gene': 'GC13M102871', 'score': 0.31}, {'connected_gene': 'BIVM-ERCC5', 'score': 0.25}]
chr13	GH13I102604	102604942	102605781	0.46	[{'connected_gene': 'METTL21C', 'score': 7.62}, {'connected_gene': 'TPP2', 'score': 0.44}, {'connected_gene': 'GC13P102663', 'score': 0.22}]
chr13	GH13I102603	102603173	102604706	0.2	[{'connected_gene': 'METTL21C', 'score': 7.86}, {'connected_gene': 'TPP2', 'score': 0.44}, {'connected_gene': 'GC13P102663', 'score': 0.22}]
chr13	GH13I102614	102614077	102614971	0.2	[{'connected_gene': 'LINC00283', 'score': 10.56}, {'connected_gene': 'BIVM', 'score': 9.65}, {'connected_gene': 'ERCC5', 'score': 9.63}, {'connected_gene': 'METTL21C', 'score': 7.89}, {'connected_gene': 'TPP2', 'score': 0.37}, {'connected_gene': 'GC13P102663', 'score': 0.25}]
chr13	GH13I101751	101751272	101752240	1.01	[{'connected_gene': 'RNU1-24P', 'score': 11.78}, {'connected_gene': 'HMGB3P7', 'score': 4.79}, {'connected_gene': 'TPP2', 'score': 4.67}, {'connected_gene': 'NALCN', 'score': 1.23}, {'connected_gene': 'GC13P101758', 'score': 0.44}, {'connected_gene': 'GC13M101719', 'score': 0.29}, {'connected_gene': 'FGF14', 'score': 0.03}]
chr13	GH13I102642	102642611	102642760	0.31	[{'connected_gene': 'GC13P102663', 'score': 0.34}, {'connected_gene': 'TPP2', 'score': 0.25}]
chr13	GH13I102591	102591491	102593925	1.6	[{'connected_gene': 'ENSG00000276957', 'score': 550.77}, {'connected_gene': 'LINC00283', 'score': 9.9}, {'connected_gene': 'CCDC168', 'score': 9.89}, {'connected_gene': 'TPP2', 'score': 3.02}, {'connected_gene': 'ERCC5', 'score': 1.95}, {'connected_gene': 'LINC00555', 'score': 0.77}]
chr13	GH13I102679	102679571	102679700	0.31	[{'connected_gene': 'GC13P102680', 'score': 550.77}, {'connected_gene': 'GC13P102679', 'score': 550.77}, {'connected_gene': 'LINC00283', 'score': 10.62}, {'connected_gene': 'CCDC168', 'score': 10.6}, {'connected_gene': 'METTL21C', 'score': 7.39}, {'connected_gene': 'TPP2', 'score': 0.18}]