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
ENST00000377191	[[21283941, 21284111], [21306916, 21307044], [21307127, 21307239], [21309196, 21309308], [21311118, 21311177], [21311253, 21311343], [21312198, 21312271], [21312405, 21312456], [21312920, 21313078], [21314181, 21314256], [21314341, 21314475], [21314574, 21314632], [21314715, 21314823], [21319681, 21319726], [21321358, 21321490], [21324727, 21324846], [21327052, 21327188], [21328783, 21328891], [21328978, 21329068], [21330026, 21330099], [21335426, 21335510], [21336717, 21336815], [21337223, 21337303], [21338373, 21338430], [21346058, 21346127], [21346210, 21346342], [21349100, 21349228], [21362631, 21362695], [21367505, 21367644], [21369910, 21370463]]	[[21284036, 21284111], [21306916, 21307044], [21307127, 21307239], [21309196, 21309308], [21311118, 21311177], [21311253, 21311343], [21312198, 21312271], [21312405, 21312456], [21312920, 21313078], [21314181, 21314256], [21314341, 21314475], [21314574, 21314632], [21314715, 21314823], [21319681, 21319726], [21321358, 21321490], [21324727, 21324846], [21327052, 21327188], [21328783, 21328891], [21328978, 21329068], [21330026, 21330099], [21335426, 21335510], [21336717, 21336815], [21337223, 21337303], [21338373, 21338430], [21346058, 21346127], [21346210, 21346342], [21349100, 21349228], [21362631, 21362695], [21367505, 21367644], [21369910, 21369976]]
ENST00000430571	[[21283982, 21284111], [21307127, 21307239], [21309196, 21309308], [21311118, 21311177], [21311253, 21311343], [21312198, 21312271], [21312405, 21312456], [21312920, 21313078], [21314181, 21314256], [21314341, 21314475], [21314574, 21314632], [21314715, 21314823], [21319681, 21319726], [21321358, 21321490], [21324727, 21324846], [21327052, 21327188], [21328783, 21328891], [21328978, 21329068], [21330026, 21330099], [21335426, 21335510], [21336717, 21336815], [21337223, 21337303], [21338373, 21338430], [21346058, 21346127], [21346210, 21346342], [21349100, 21349228], [21362631, 21362695], [21367505, 21367644], [21369910, 21370263]]	[[21307152, 21307239], [21309196, 21309308], [21311118, 21311177], [21311253, 21311343], [21312198, 21312271], [21312405, 21312456], [21312920, 21313078], [21314181, 21314256], [21314341, 21314475], [21314574, 21314632], [21314715, 21314823], [21319681, 21319726], [21321358, 21321490], [21324727, 21324846], [21327052, 21327188], [21328783, 21328891], [21328978, 21329068], [21330026, 21330099], [21335426, 21335510], [21336717, 21336815], [21337223, 21337303], [21338373, 21338430], [21346058, 21346127], [21346210, 21346342], [21349100, 21349228], [21362631, 21362695], [21367505, 21367644], [21369910, 21369976]]
ENST00000539513	[[21284431, 21284485], [21306916, 21307044], [21307127, 21307239], [21309196, 21309308], [21311118, 21311177], [21311253, 21311343], [21312198, 21312271], [21312405, 21312456], [21312920, 21313078], [21314181, 21314256], [21314341, 21314475], [21314574, 21314632], [21314715, 21314823], [21319681, 21319726], [21321358, 21321490], [21324727, 21324846], [21327052, 21327188], [21328783, 21328891], [21328978, 21329068], [21330026, 21330099], [21335426, 21335510], [21336717, 21336815], [21337223, 21337303], [21338373, 21338430], [21346058, 21346127], [21346210, 21346342], [21349100, 21349228], [21362631, 21362695], [21367505, 21367644], [21369910, 21370463]]	[[21307003, 21307044], [21307127, 21307239], [21309196, 21309308], [21311118, 21311177], [21311253, 21311343], [21312198, 21312271], [21312405, 21312456], [21312920, 21313078], [21314181, 21314256], [21314341, 21314475], [21314574, 21314632], [21314715, 21314823], [21319681, 21319726], [21321358, 21321490], [21324727, 21324846], [21327052, 21327188], [21328783, 21328891], [21328978, 21329068], [21330026, 21330099], [21335426, 21335510], [21336717, 21336815], [21337223, 21337303], [21338373, 21338430], [21346058, 21346127], [21346210, 21346342], [21349100, 21349228], [21362631, 21362695], [21367505, 21367644], [21369910, 21369976]]
NM_012255	[[21283921, 21284111], [21306916, 21307044], [21307127, 21307239], [21309196, 21309308], [21311118, 21311177], [21311253, 21311343], [21312198, 21312271], [21312405, 21312456], [21312920, 21313078], [21314181, 21314256], [21314341, 21314475], [21314574, 21314632], [21314715, 21314823], [21319681, 21319726], [21321358, 21321490], [21324727, 21324846], [21327052, 21327188], [21328783, 21328891], [21328978, 21329068], [21330026, 21330099], [21335426, 21335510], [21336717, 21336815], [21337223, 21337303], [21338373, 21338430], [21346058, 21346127], [21346210, 21346342], [21349100, 21349228], [21362631, 21362695], [21367505, 21367644], [21369910, 21370463]]	[[21284036, 21284111], [21306916, 21307044], [21307127, 21307239], [21309196, 21309308], [21311118, 21311177], [21311253, 21311343], [21312198, 21312271], [21312405, 21312456], [21312920, 21313078], [21314181, 21314256], [21314341, 21314475], [21314574, 21314632], [21314715, 21314823], [21319681, 21319726], [21321358, 21321490], [21324727, 21324846], [21327052, 21327188], [21328783, 21328891], [21328978, 21329068], [21330026, 21330099], [21335426, 21335510], [21336717, 21336815], [21337223, 21337303], [21338373, 21338430], [21346058, 21346127], [21346210, 21346342], [21349100, 21349228], [21362631, 21362695], [21367505, 21367644], [21369910, 21369976]]
NM_001317960	[[21284135, 21284485], [21306916, 21307044], [21307127, 21307239], [21309196, 21309308], [21311118, 21311177], [21311253, 21311343], [21312198, 21312271], [21312405, 21312456], [21312920, 21313078], [21314181, 21314256], [21314341, 21314475], [21314574, 21314632], [21314715, 21314823], [21319681, 21319726], [21321358, 21321490], [21324727, 21324846], [21327052, 21327188], [21328783, 21328891], [21328978, 21329068], [21330026, 21330099], [21335426, 21335510], [21336717, 21336815], [21337223, 21337303], [21338373, 21338430], [21346058, 21346127], [21346210, 21346342], [21349100, 21349228], [21362631, 21362695], [21367505, 21367644], [21369910, 21370463]]	[[21284176, 21284485], [21306916, 21307044], [21307127, 21307239], [21309196, 21309308], [21311118, 21311177], [21311253, 21311343], [21312198, 21312271], [21312405, 21312456], [21312920, 21313078], [21314181, 21314256], [21314341, 21314475], [21314574, 21314632], [21314715, 21314823], [21319681, 21319726], [21321358, 21321490], [21324727, 21324846], [21327052, 21327188], [21328783, 21328891], [21328978, 21329068], [21330026, 21330099], [21335426, 21335510], [21336717, 21336815], [21337223, 21337303], [21338373, 21338430], [21346058, 21346127], [21346210, 21346342], [21349100, 21349228], [21362631, 21362695], [21367505, 21367644], [21369910, 21369976]]

Promoter

Chrom	Start	End	Description
chr20	21283917	21283928	CAGE_peak_2_at_XRN2_5end
chr20	21283941	21284007	CAGE_peak_1_at_XRN2_5end
chr20	21284416	21284490	CAGE_peak_3_at_XRN2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I021505	21505073	21507344	1.33	[{'connected_gene': 'RPS15AP1', 'score': 25.65}, {'connected_gene': 'XRN2', 'score': 15.25}, {'connected_gene': 'RPL24P2', 'score': 10.57}, {'connected_gene': 'ENSG00000278041', 'score': 0.77}, {'connected_gene': 'NKX2-2', 'score': 0.44}, {'connected_gene': 'NKX2-2-AS1', 'score': 0.44}, {'connected_gene': 'GC20P021326', 'score': 0.1}]
chr20	GH20I021314	21314759	21316009	0.66	[{'connected_gene': 'KIZ', 'score': 4.41}, {'connected_gene': 'GC20P021304', 'score': 0.39}, {'connected_gene': 'XRN2', 'score': 0.39}, {'connected_gene': 'GC20P021326', 'score': 0.39}]
chr20	GH20I021514	21514023	21514082	1.19	[{'connected_gene': 'NKX2-2', 'score': 550.77}, {'connected_gene': 'RPS15AP1', 'score': 15.41}, {'connected_gene': 'XRN2', 'score': 15.25}, {'connected_gene': 'GC20P021523', 'score': 0.44}, {'connected_gene': 'GC20P021326', 'score': 0.09}]
chr20	GH20I021516	21514143	21514292	0.95	[{'connected_gene': 'NKX2-2', 'score': 550.77}, {'connected_gene': 'RPS15AP1', 'score': 15.41}, {'connected_gene': 'XRN2', 'score': 15.25}, {'connected_gene': 'GC20P021523', 'score': 0.44}, {'connected_gene': 'GC20P021326', 'score': 0.09}]
chr20	GH20I021382	21382439	21382653	0.4	[{'connected_gene': 'XRN2', 'score': 6.61}, {'connected_gene': 'LOC105372558', 'score': 0.39}, {'connected_gene': 'GC20M021330', 'score': 0.23}, {'connected_gene': 'GC20M021329', 'score': 0.23}, {'connected_gene': 'GC20P021326', 'score': 0.22}]
chr20	GH20I021360	21360801	21361698	0.63	[{'connected_gene': 'LOC105372558', 'score': 11.12}, {'connected_gene': 'NKX2-4', 'score': 11.12}, {'connected_gene': 'GC20M021330', 'score': 0.29}, {'connected_gene': 'GC20P021326', 'score': 0.29}, {'connected_gene': 'GC20M021329', 'score': 0.29}, {'connected_gene': 'XRN2', 'score': 0.22}]
chr20	GH20I021302	21302087	21305002	2.07	[{'connected_gene': 'GC20P021304', 'score': 550.77}, {'connected_gene': 'XRN2', 'score': 550.77}, {'connected_gene': 'ENSG00000275457', 'score': 550.77}, {'connected_gene': 'KIZ', 'score': 4.67}]
chr20	GH20I021322	21322802	21326017	1.02	[{'connected_gene': 'GC20P021326', 'score': 0.77}, {'connected_gene': 'GC20P021304', 'score': 0.37}, {'connected_gene': 'XRN2', 'score': 0.34}]