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

Promoter

Chrom	Start	End	Description
chr1	53392926	53392987	CAGE_peak_2_at_SCP2_5end
chr1	53392995	53393021	CAGE_peak_4_at_SCP2_5end
chr1	53480568	53480591	CAGE_peak_3_at_SCP2_5end
chr1	53480598	53480665	CAGE_peak_1_at_SCP2_5end
chr1	53480673	53480688	CAGE_peak_5_at_SCP2_5end

Transcript ID	Transcript exon region	Coding exon region
ENST00000371514	[[53392900, 53393137], [53407467, 53407525], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53517375]]	[[53393068, 53393137], [53407467, 53407525], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516376]]
ENST00000478631	[[53392948, 53393137], [53407467, 53407525], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53458929, 53461672], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53517073]]	[[53393068, 53393137], [53407467, 53407525], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53458929, 53458949]]
ENST00000528311	[[53392957, 53393137], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516575]]	[[53416470, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516376]]
ENST00000371509	[[53392957, 53393137], [53407467, 53407525], [53413680, 53413752], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516642]]	[[53393068, 53393137], [53407467, 53407525], [53413680, 53413752], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516376]]
ENST00000407246	[[53392957, 53393137], [53407467, 53407525], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516932]]	[[53393068, 53393137], [53407467, 53407525], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516376]]
ENST00000371513	[[53392989, 53393137], [53407467, 53407525], [53413680, 53413752], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53458929, 53459904]]	[[53393068, 53393137], [53407467, 53407525], [53413680, 53413752], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53458929, 53458949]]
ENST00000528809	[[53393051, 53393137], [53407467, 53407525], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53442354, 53442384]]	None
ENST00000529363	[[53407474, 53407525], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53443888, 53444039], [53446067, 53446125]]	[[53407474, 53407525], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53443888, 53444039], [53446067, 53446125]]
ENST00000473584	[[53429312, 53429392], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453752]]	None
ENST00000430330	[[53480599, 53480715], [53493649, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516798]]	[[53480692, 53480715], [53493649, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516376]]
ENST00000408941	[[53480609, 53480715], [53493640, 53493743], [53513529, 53513609], [53516280, 53517289]]	[[53480692, 53480715], [53493640, 53493743], [53513529, 53513583]]
ENST00000478274	[[53480637, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53514187]]	[[53480637, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513639]]
ENST00000484100	[[53480637, 53480715], [53493640, 53493743], [53513529, 53513609], [53516280, 53516690]]	[[53480637, 53480715], [53493640, 53493743], [53513529, 53513583]]
ENST00000533119	[[53480637, 53480715], [53504588, 53504718], [53513529, 53513609], [53516280, 53516734]]	[[53480637, 53480715], [53504588, 53504607]]
ENST00000435345	[[53480639, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516785]]	[[53480692, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516376]]
ENST00000488965	[[53480645, 53480715], [53493640, 53493743], [53513529, 53517282]]	[[53480692, 53480715], [53493640, 53493743], [53513529, 53513583]]
NM_001193617	[[53392900, 53393137], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53517289]]	[[53416470, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516376]]
NM_001193599	[[53392900, 53393137], [53407467, 53407525], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53517289]]	[[53393068, 53393137], [53407467, 53407525], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516376]]
NM_001193600	[[53392900, 53393137], [53407467, 53407525], [53413680, 53413752], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53517289]]	[[53393068, 53393137], [53407467, 53407525], [53413680, 53413752], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516376]]
NM_002979	[[53392900, 53393137], [53407467, 53407525], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53517289]]	[[53393068, 53393137], [53407467, 53407525], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53480561, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516376]]
NM_001007098	[[53392900, 53393137], [53407467, 53407525], [53413680, 53413752], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53458929, 53459904]]	[[53393068, 53393137], [53407467, 53407525], [53413680, 53413752], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53458929, 53458949]]
NM_001330587	[[53392900, 53393137], [53407467, 53407525], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53458929, 53459904]]	[[53393068, 53393137], [53407467, 53407525], [53413680, 53413752], [53416426, 53416558], [53420411, 53420476], [53427174, 53427301], [53440440, 53440504], [53442354, 53442441], [53443888, 53444039], [53446067, 53446215], [53453700, 53453808], [53458929, 53458949]]
NM_001007100	[[53480609, 53480715], [53493649, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53517289]]	[[53480692, 53480715], [53493649, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516376]]
NM_001007250	[[53480609, 53480715], [53493640, 53493743], [53513529, 53513609], [53516280, 53517289]]	[[53480692, 53480715], [53493640, 53493743], [53513529, 53513583]]
NM_001007099	[[53480609, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53517289]]	[[53480692, 53480715], [53493640, 53493743], [53504588, 53504718], [53513529, 53513609], [53516280, 53516376]]