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
chr14	31343703	31343726	CAGE_peak_2_at_COCH_5end
chr14	31343729	31343745	CAGE_peak_3_at_COCH_5end
chr14	31343747	31343772	CAGE_peak_1_at_COCH_5end
chr14	31343963	31343974	CAGE_peak_4_at_COCH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I030873	30873743	30875667	1.97	[{'connected_gene': 'COCH', 'score': 557.37}, {'connected_gene': 'AP4S1', 'score': 5.12}, {'connected_gene': 'LOC100506071', 'score': 0.37}]
chr14	GH14I030848	30848601	30849878	0.96	[{'connected_gene': 'COCH', 'score': 12.17}, {'connected_gene': 'ENSG00000258558', 'score': 0.31}]
chr14	GH14I030850	30850075	30850158	0.2	[{'connected_gene': 'COCH', 'score': 12.2}, {'connected_gene': 'ENSG00000258558', 'score': 0.31}]
chr14	GH14I030893	30893852	30894124	0.74	[{'connected_gene': 'LOC100506071', 'score': 0.77}, {'connected_gene': 'COCH', 'score': 0.37}, {'connected_gene': 'HIGD1AP17', 'score': 0.19}, {'connected_gene': 'STRN3', 'score': 0.12}]
chr14	GH14I030822	30822195	30822364	0.9	[{'connected_gene': 'ENSG00000258558', 'score': 550.77}, {'connected_gene': 'GC14P030822', 'score': 550.77}, {'connected_gene': 'RPL27P1', 'score': 550.77}, {'connected_gene': 'G2E3', 'score': 9.9}, {'connected_gene': 'COCH', 'score': 7.61}]
chr14	GH14I031273	31273409	31274536	0.84	[{'connected_gene': 'ENSG00000203546', 'score': 13.11}, {'connected_gene': 'HECTD1', 'score': 11.42}, {'connected_gene': 'COCH', 'score': 4.11}, {'connected_gene': 'NARSP1', 'score': 0.39}, {'connected_gene': 'ENSG00000199291', 'score': 0.37}, {'connected_gene': 'GC14M031259', 'score': 0.37}, {'connected_gene': 'LOC105370436', 'score': 0.31}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000555117	[[31343719, 31344178], [31344261, 31344421]]	None
ENST00000216361	[[31343748, 31344178], [31344261, 31344309], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31358821, 31359345]]	[[31344144, 31344178], [31344261, 31344309], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31358821, 31358997]]
ENST00000553772	[[31343764, 31343797], [31344121, 31344178], [31344261, 31344309], [31346777, 31346934], [31349657, 31349702], [31349792, 31349940], [31353758, 31353824]]	[[31344144, 31344178], [31344261, 31344309], [31346777, 31346934], [31349657, 31349661]]
ENST00000396618	[[31343764, 31343797], [31344121, 31344178], [31344261, 31344309], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31358821, 31359824]]	[[31344144, 31344178], [31344261, 31344309], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31358821, 31358997]]
ENST00000475087	[[31343777, 31344178], [31344261, 31344309], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31364118, 31364271]]	[[31344144, 31344178], [31344261, 31344309], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31364118, 31364126]]
ENST00000556908	[[31343950, 31344178], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940]]	[[31344144, 31344178], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940]]
ENST00000555881	[[31343968, 31344178], [31344261, 31344309], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826]]	[[31344144, 31344178], [31344261, 31344309], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826]]
ENST00000460581	[[31343969, 31344261], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31358821, 31359822]]	[[31348113, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31358821, 31358997]]
ENST00000553833	[[31346541, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702]]	None
ENST00000557065	[[31346779, 31346934], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354738]]	[[31346779, 31346934], [31348628, 31348641]]
ENST00000382493	[[31349790, 31349940], [31353758, 31353862], [31354115, 31354247], [31354599, 31354826], [31355001, 31355518], [31358821, 31359822]]	[[31349890, 31349940], [31353758, 31353862], [31354115, 31354247], [31354599, 31354826], [31355001, 31355518], [31358821, 31358997]]
ENST00000468826	[[31349792, 31349940], [31353758, 31353862], [31354115, 31354247], [31354599, 31354826], [31355001, 31355518], [31358821, 31359822]]	[[31349792, 31349940], [31353758, 31353862], [31354115, 31354247], [31354599, 31354826], [31355001, 31355518], [31358821, 31358997]]
NM_004086	[[31343740, 31343797], [31344121, 31344178], [31344261, 31344309], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31358821, 31359822]]	[[31344144, 31344178], [31344261, 31344309], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31358821, 31358997]]
NM_001135058	[[31343740, 31344178], [31344261, 31344309], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31358821, 31359822]]	[[31344144, 31344178], [31344261, 31344309], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31358821, 31358997]]
NM_001347720	[[31343740, 31344178], [31344261, 31344504], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31358821, 31359822]]	[[31344144, 31344178], [31344261, 31344504], [31346777, 31346934], [31348016, 31348150], [31348628, 31348691], [31349657, 31349702], [31349792, 31349940], [31353758, 31353862], [31354599, 31354826], [31355001, 31355518], [31358821, 31358997]]