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
ENST00000295992	[[142536710, 142537307], [142539719, 142539887], [142542373, 142542457], [142548533, 142548688], [142557611, 142557748], [142561765, 142561890], [142567058, 142567314], [142606510, 142606619], [142607655, 142608045]]	[[142537176, 142537307], [142539719, 142539887], [142542373, 142542457], [142548533, 142548688], [142557611, 142557748], [142561765, 142561890], [142567058, 142567314], [142606510, 142606619], [142607655, 142607738]]
ENST00000485766	[[142537100, 142537307], [142539719, 142539887], [142557611, 142557748], [142561765, 142561890], [142567058, 142567314], [142606510, 142606619], [142607655, 142607741]]	[[142537273, 142537307], [142539719, 142539887], [142557611, 142557748], [142561765, 142561890], [142567058, 142567314], [142606510, 142606619], [142607655, 142607738]]
ENST00000495732	[[142565493, 142565584], [142567058, 142567314], [142606510, 142606619], [142607655, 142607903]]	None
ENST00000461818	[[142582730, 142583321], [142606510, 142606619], [142607655, 142607864]]	None
ENST00000493733	[[142582951, 142583321], [142606510, 142606619], [142607500, 142607587]]	None
ENST00000483454	[[142606067, 142606619], [142607655, 142607769]]	None
ENST00000470310	[[142534763, 142534843], [142535376, 142535454], [142537029, 142537307], [142539719, 142539887], [142542373, 142542457], [142548533, 142548573]]	[[142537176, 142537307], [142539719, 142539887], [142542373, 142542457], [142548533, 142548573]]
ENST00000470795	[[142536756, 142537307], [142539719, 142539887], [142542373, 142542457], [142548533, 142548697]]	None
ENST00000480473	[[142539808, 142539887], [142542373, 142542457], [142548533, 142548688], [142557611, 142557748], [142561765, 142561890], [142562086, 142562151], [142567058, 142567186]]	[[142561779, 142561890], [142562086, 142562151], [142567058, 142567186]]
ENST00000483986	[[142548518, 142548688], [142557611, 142557748], [142561765, 142561890], [142567058, 142567164]]	None
NM_013363	[[142536701, 142537307], [142539719, 142539887], [142542373, 142542457], [142548533, 142548688], [142557611, 142557748], [142561765, 142561890], [142567058, 142567314], [142606510, 142606619], [142607655, 142608045]]	[[142537176, 142537307], [142539719, 142539887], [142542373, 142542457], [142548533, 142548688], [142557611, 142557748], [142561765, 142561890], [142567058, 142567314], [142606510, 142606619], [142607655, 142607738]]

Promoter

Chrom	Start	End	Description
chr3	142607706	142607717	CAGE_peak_10_at_PCOLCE2_5end
chr3	142607740	142607769	CAGE_peak_4_at_PCOLCE2_5end
chr3	142607822	142607869	CAGE_peak_2_at_PCOLCE2_5end
chr3	142607876	142607887	CAGE_peak_7_at_PCOLCE2_5end
chr3	142607913	142607931	CAGE_peak_3_at_PCOLCE2_5end
chr3	142607946	142607965	CAGE_peak_5_at_PCOLCE2_5end
chr3	142607967	142607978	CAGE_peak_6_at_PCOLCE2_5end
chr3	142607979	142607990	CAGE_peak_8_at_PCOLCE2_5end
chr3	142608001	142608053	CAGE_peak_1_at_PCOLCE2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I142904	142904594	142905399	0.88	[{'connected_gene': 'PLS1', 'score': 10.61}, {'connected_gene': 'RNA5SP143', 'score': 10.6}, {'connected_gene': 'PCOLCE2', 'score': 9.67}, {'connected_gene': 'LOC100507389', 'score': 0.34}]
chr3	GH03I142849	142849648	142851600	1.35	[{'connected_gene': 'PBX2P1', 'score': 13.66}, {'connected_gene': 'XRN1', 'score': 12.69}, {'connected_gene': 'PCOLCE2', 'score': 11.36}, {'connected_gene': 'GK5', 'score': 11.23}, {'connected_gene': 'ATR', 'score': 10.38}, {'connected_gene': 'LOC100507389', 'score': 10.36}, {'connected_gene': 'RPL8P3', 'score': 0.34}]
chr3	GH03I142940	142940163	142943066	0.94	[{'connected_gene': 'PCOLCE2', 'score': 15.9}, {'connected_gene': 'PAQR9', 'score': 12.92}, {'connected_gene': 'LOC100507389', 'score': 0.39}, {'connected_gene': 'GC03P142958', 'score': 0.37}]
chr3	GH03I142862	142862619	142864552	1.03	[{'connected_gene': 'PCOLCE2', 'score': 11.82}, {'connected_gene': 'LOC100507389', 'score': 10.75}, {'connected_gene': 'PLS1', 'score': 10.14}, {'connected_gene': 'RNA5SP143', 'score': 10.14}, {'connected_gene': 'RPL8P3', 'score': 0.28}]
chr3	GH03I142866	142866820	142867359	0.69	[{'connected_gene': 'PCOLCE2', 'score': 12.3}, {'connected_gene': 'LOC100507389', 'score': 11.19}, {'connected_gene': 'PAQR9-AS1', 'score': 10.87}, {'connected_gene': 'PAQR9', 'score': 10.87}, {'connected_gene': 'RPL8P3', 'score': 0.28}]
chr3	GH03I142857	142857037	142858542	0.76	[{'connected_gene': 'PCOLCE2', 'score': 11.8}, {'connected_gene': 'LOC100507389', 'score': 10.75}, {'connected_gene': 'RPL8P3', 'score': 0.29}]
chr3	GH03I142887	142887862	142889600	2.08	[{'connected_gene': 'PCOLCE2', 'score': 555.86}, {'connected_gene': 'RPL8P3', 'score': 0.21}]
chr3	GH03I142853	142853201	142853401	0.8	[{'connected_gene': 'PCOLCE2', 'score': 10.64}, {'connected_gene': 'RPL8P3', 'score': 0.31}]
chr3	GH03I142854	142853107	142853179	0.4	[{'connected_gene': 'PCOLCE2', 'score': 10.64}, {'connected_gene': 'RPL8P3', 'score': 0.31}]
chr3	GH03I142100	142100505	142103054	0.31	[{'connected_gene': 'RNU6-425P', 'score': 11.35}, {'connected_gene': 'PCOLCE2', 'score': 4.82}, {'connected_gene': 'GK5', 'score': 4.72}, {'connected_gene': 'GC03P142146', 'score': 0.26}, {'connected_gene': 'TFDP2', 'score': 0.25}, {'connected_gene': 'RPL19P6', 'score': 0.22}]
chr3	GH03I142094	142094486	142095170	0.2	[{'connected_gene': 'RNU6-425P', 'score': 10.82}, {'connected_gene': 'PCOLCE2', 'score': 4.86}, {'connected_gene': 'RPL19P6', 'score': 0.23}, {'connected_gene': 'GC03P142146', 'score': 0.23}, {'connected_gene': 'TFDP2', 'score': 0.23}]
chr3	GH03I142976	142976199	142977731	1.23	[{'connected_gene': 'LOC100507389', 'score': 11.41}, {'connected_gene': 'PCOLCE2', 'score': 10.81}, {'connected_gene': 'ENSG00000241679', 'score': 4.75}, {'connected_gene': 'U2SURP', 'score': 0.39}, {'connected_gene': 'GC03P142958', 'score': 0.37}, {'connected_gene': 'PAQR9-AS1', 'score': 0.37}, {'connected_gene': 'LOC100289361', 'score': 0.34}, {'connected_gene': 'GC03M142971', 'score': 0.22}]
chr3	GH03I142808	142808239	142808388	0.72	[{'connected_gene': 'LOC100507389', 'score': 10.64}, {'connected_gene': 'PCOLCE2', 'score': 10.56}, {'connected_gene': 'RNA5SP143', 'score': 10.27}, {'connected_gene': 'PLS1', 'score': 10.26}, {'connected_gene': 'GC03P142802', 'score': 0.44}, {'connected_gene': 'RPL8P3', 'score': 0.37}]
chr3	GH03I142869	142869726	142871297	0.31	[{'connected_gene': 'LOC100507389', 'score': 11.19}, {'connected_gene': 'PAQR9-AS1', 'score': 10.87}, {'connected_gene': 'PAQR9', 'score': 10.87}, {'connected_gene': 'PCOLCE2', 'score': 0.37}, {'connected_gene': 'RPL8P3', 'score': 0.26}]
chr3	GH03I142875	142875997	142881382	0.56	[{'connected_gene': 'LOC100507389', 'score': 11.05}, {'connected_gene': 'PAQR9-AS1', 'score': 10.88}, {'connected_gene': 'PAQR9', 'score': 10.88}, {'connected_gene': 'RNA5SP143', 'score': 9.43}, {'connected_gene': 'PLS1', 'score': 9.43}, {'connected_gene': 'SLC9A9', 'score': 5.46}, {'connected_gene': 'PCOLCE2', 'score': 0.39}, {'connected_gene': 'RPL8P3', 'score': 0.23}]
chr3	GH03I142828	142828799	142828968	0.84	[{'connected_gene': 'RPL8P3', 'score': 550.77}, {'connected_gene': 'PCOLCE2', 'score': 10.94}, {'connected_gene': 'LOC100507389', 'score': 10.8}, {'connected_gene': 'U2SURP', 'score': 10.44}]
chr3	GH03I142958	142958829	142959068	0.69	[{'connected_gene': 'GC03P142958', 'score': 550.77}, {'connected_gene': 'PAQR9-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000241592', 'score': 550.77}, {'connected_gene': 'LOC100507389', 'score': 11.14}, {'connected_gene': 'PCOLCE2', 'score': 10.93}, {'connected_gene': 'PAQR9', 'score': 0.77}]