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
ENST00000388887	[[103981050, 103981335], [103984674, 103984808], [103988172, 103988288], [104014245, 104014331], [104015819, 104015889], [104025375, 104025471], [104030888, 104031014], [104031793, 104031990], [104033900, 104034034], [104042467, 104042601], [104044273, 104044356], [104046333, 104046483], [104048332, 104048476], [104049028, 104049085], [104049233, 104049359], [104054108, 104054162], [104054460, 104054541], [104056623, 104056776], [104060068, 104060131], [104062420, 104062507], [104063318, 104063405], [104064473, 104064585], [104067684, 104067865], [104069705, 104069799], [104071230, 104071389], [104076982, 104077078], [104078766, 104078862], [104081945, 104081993], [104083623, 104083760], [104084201, 104084316], [104086589, 104086667], [104089327, 104089426], [104089514, 104089622], [104092873, 104093005], [104096925, 104097054], [104098335, 104098392], [104099409, 104099505], [104100569, 104100765], [104102218, 104102314], [104105248, 104105294], [104106144, 104106221], [104107420, 104107546], [104109592, 104109666], [104111547, 104111619], [104118752, 104118872], [104119893, 104119941], [104121044, 104121128], [104122626, 104122773], [104123893, 104124034], [104125353, 104125413], [104126783, 104126960], [104129268, 104129358], [104131411, 104131558], [104133189, 104133246], [104134407, 104134534], [104136182, 104136332], [104138950, 104139055], [104140374, 104140482], [104142740, 104142934], [104144356, 104144498], [104146997, 104147131], [104149079, 104149245], [104149389, 104149496], [104151947, 104152067], [104152910, 104153051], [104155077, 104155188], [104156051, 104156180], [104157269, 104157386], [104160063, 104160505]]	[[103981254, 103981335], [103984674, 103984808], [103988172, 103988288], [104014245, 104014331], [104015819, 104015889], [104025375, 104025471], [104030888, 104031014], [104031793, 104031990], [104033900, 104034034], [104042467, 104042601], [104044273, 104044356], [104046333, 104046483], [104048332, 104048476], [104049028, 104049085], [104049233, 104049359], [104054108, 104054162], [104054460, 104054541], [104056623, 104056776], [104060068, 104060131], [104062420, 104062507], [104063318, 104063405], [104064473, 104064585], [104067684, 104067865], [104069705, 104069799], [104071230, 104071389], [104076982, 104077078], [104078766, 104078862], [104081945, 104081993], [104083623, 104083760], [104084201, 104084316], [104086589, 104086667], [104089327, 104089426], [104089514, 104089622], [104092873, 104093005], [104096925, 104097054], [104098335, 104098392], [104099409, 104099505], [104100569, 104100765], [104102218, 104102314], [104105248, 104105294], [104106144, 104106221], [104107420, 104107546], [104109592, 104109666], [104111547, 104111619], [104118752, 104118872], [104119893, 104119941], [104121044, 104121128], [104122626, 104122773], [104123893, 104124034], [104125353, 104125413], [104126783, 104126960], [104129268, 104129358], [104131411, 104131558], [104133189, 104133246], [104134407, 104134534], [104136182, 104136332], [104138950, 104139055], [104140374, 104140482], [104142740, 104142934], [104144356, 104144498], [104146997, 104147131], [104149079, 104149245], [104149389, 104149496], [104151947, 104152067], [104152910, 104153051], [104155077, 104155188], [104156051, 104156180], [104157269, 104157386], [104160063, 104160114]]
ENST00000549474	[[104097012, 104097054], [104098335, 104098392], [104098658, 104098805], [104099409, 104099473]]	[[104097012, 104097054], [104098335, 104098392], [104098658, 104098661]]
ENST00000549798	[[104105070, 104105294], [104106144, 104106221]]	None
ENST00000548073	[[104148869, 104149245], [104149389, 104149496], [104151755, 104152065]]	None
ENST00000548579	[[104151702, 104152067], [104152910, 104153051], [104155077, 104155132]]	None
ENST00000552777	[[104157275, 104157386], [104159806, 104160194]]	[[104157275, 104157386], [104159806, 104160103]]
NM_017564	[[103981068, 103981335], [103984674, 103984808], [103988172, 103988288], [104014245, 104014331], [104015819, 104015889], [104025375, 104025471], [104030888, 104031014], [104031793, 104031990], [104033900, 104034034], [104042467, 104042601], [104044273, 104044356], [104046333, 104046483], [104048332, 104048476], [104049028, 104049085], [104049233, 104049359], [104054108, 104054162], [104054460, 104054541], [104056623, 104056776], [104060068, 104060131], [104062420, 104062507], [104063318, 104063405], [104064473, 104064585], [104067684, 104067865], [104069705, 104069799], [104071230, 104071389], [104076982, 104077078], [104078766, 104078862], [104081945, 104081993], [104083623, 104083760], [104084201, 104084316], [104086589, 104086667], [104089327, 104089426], [104089514, 104089622], [104092873, 104093005], [104096925, 104097054], [104098335, 104098392], [104099409, 104099505], [104100569, 104100765], [104102218, 104102314], [104105248, 104105294], [104106144, 104106221], [104107420, 104107546], [104109592, 104109666], [104111547, 104111619], [104118752, 104118872], [104119893, 104119941], [104121044, 104121128], [104122626, 104122773], [104123893, 104124034], [104125353, 104125413], [104126783, 104126960], [104129268, 104129358], [104131411, 104131558], [104133189, 104133246], [104134407, 104134534], [104136182, 104136332], [104138950, 104139055], [104140374, 104140482], [104142740, 104142934], [104144356, 104144498], [104146997, 104147131], [104149079, 104149245], [104149389, 104149496], [104151947, 104152067], [104152910, 104153051], [104155077, 104155188], [104156051, 104156180], [104157269, 104157386], [104160063, 104160502]]	[[103981254, 103981335], [103984674, 103984808], [103988172, 103988288], [104014245, 104014331], [104015819, 104015889], [104025375, 104025471], [104030888, 104031014], [104031793, 104031990], [104033900, 104034034], [104042467, 104042601], [104044273, 104044356], [104046333, 104046483], [104048332, 104048476], [104049028, 104049085], [104049233, 104049359], [104054108, 104054162], [104054460, 104054541], [104056623, 104056776], [104060068, 104060131], [104062420, 104062507], [104063318, 104063405], [104064473, 104064585], [104067684, 104067865], [104069705, 104069799], [104071230, 104071389], [104076982, 104077078], [104078766, 104078862], [104081945, 104081993], [104083623, 104083760], [104084201, 104084316], [104086589, 104086667], [104089327, 104089426], [104089514, 104089622], [104092873, 104093005], [104096925, 104097054], [104098335, 104098392], [104099409, 104099505], [104100569, 104100765], [104102218, 104102314], [104105248, 104105294], [104106144, 104106221], [104107420, 104107546], [104109592, 104109666], [104111547, 104111619], [104118752, 104118872], [104119893, 104119941], [104121044, 104121128], [104122626, 104122773], [104123893, 104124034], [104125353, 104125413], [104126783, 104126960], [104129268, 104129358], [104131411, 104131558], [104133189, 104133246], [104134407, 104134534], [104136182, 104136332], [104138950, 104139055], [104140374, 104140482], [104142740, 104142934], [104144356, 104144498], [104146997, 104147131], [104149079, 104149245], [104149389, 104149496], [104151947, 104152067], [104152910, 104153051], [104155077, 104155188], [104156051, 104156180], [104157269, 104157386], [104160063, 104160114]]

Promoter

Chrom	Start	End	Description
chr12	103981044	103981061	CAGE_peak_1_at_STAB2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I103742	103742217	103743415	0.52	[{'connected_gene': 'TDG', 'score': 15.14}, {'connected_gene': 'ENSG00000212594', 'score': 9.55}, {'connected_gene': 'ENSG00000257681', 'score': 0.31}, {'connected_gene': 'LOC105369946', 'score': 0.19}, {'connected_gene': 'STAB2', 'score': 0.1}]
chr12	GH12I103503	103503649	103506482	0.82	[{'connected_gene': 'LOC644203', 'score': 550.77}, {'connected_gene': 'ENSG00000257994', 'score': 550.77}, {'connected_gene': 'STAB2', 'score': 8.86}, {'connected_gene': 'C12orf42', 'score': 0.34}]
chr12	GH12I103570	103570755	103572192	0.66	[{'connected_gene': 'STAB2', 'score': 15.35}, {'connected_gene': 'ENSG00000212594', 'score': 11.05}, {'connected_gene': 'C12orf42', 'score': 10.64}, {'connected_gene': 'GC12P103574', 'score': 0.77}, {'connected_gene': 'LINC02401', 'score': 0.34}]
chr12	GH12I103559	103559062	103562896	0.89	[{'connected_gene': 'STAB2', 'score': 12.91}, {'connected_gene': 'C12orf42', 'score': 10.83}, {'connected_gene': 'ENSG00000212594', 'score': 10.35}, {'connected_gene': 'GC12P103574', 'score': 0.39}, {'connected_gene': 'LINC02401', 'score': 0.39}]
chr12	GH12I103587	103587224	103587283	0.5	[{'connected_gene': 'STAB2', 'score': 550.77}, {'connected_gene': 'GC12P103575', 'score': 0.39}, {'connected_gene': 'GC12P103574', 'score': 0.39}, {'connected_gene': 'GC12P103576', 'score': 0.39}]
chr12	GH12I102914	102914408	102921448	1.94	[{'connected_gene': 'PAH', 'score': 550.26}, {'connected_gene': 'STAB2', 'score': 4.43}, {'connected_gene': 'GC12M102927', 'score': 0.39}, {'connected_gene': 'GC12P102871', 'score': 0.25}]
chr12	GH12I102902	102902441	102905980	0.85	[{'connected_gene': 'ASCL1', 'score': 11.21}, {'connected_gene': 'ENSG00000212594', 'score': 9.35}, {'connected_gene': 'STAB2', 'score': 4.2}, {'connected_gene': 'GC12M102927', 'score': 0.31}, {'connected_gene': 'GC12P102871', 'score': 0.29}, {'connected_gene': 'PAH', 'score': 0.23}]
chr12	GH12I103712	103712283	103712432	0.2	[{'connected_gene': 'LOC105369946', 'score': 0.26}, {'connected_gene': 'ENSG00000257681', 'score': 0.22}, {'connected_gene': 'STAB2', 'score': 0.13}]
chr12	GH12I103679	103679929	103681432	0.72	[{'connected_gene': 'LOC105369946', 'score': 0.44}, {'connected_gene': 'ENSG00000257681', 'score': 0.17}, {'connected_gene': 'STAB2', 'score': 0.16}]
chr12	GH12I103676	103676493	103677989	0.38	[{'connected_gene': 'LOC105369946', 'score': 0.44}, {'connected_gene': 'STAB2', 'score': 0.17}, {'connected_gene': 'ENSG00000257681', 'score': 0.16}]
chr12	GH12I103698	103698201	103698800	0.43	[{'connected_gene': 'LOC105369946', 'score': 0.31}, {'connected_gene': 'ENSG00000257681', 'score': 0.19}, {'connected_gene': 'STAB2', 'score': 0.14}]
chr12	GH12I103672	103672368	103674824	0.72	[{'connected_gene': 'LOC105369946', 'score': 0.77}, {'connected_gene': 'STAB2', 'score': 0.17}, {'connected_gene': 'ENSG00000257681', 'score': 0.15}]
chr12	GH12I103685	103685591	103686737	0.43	[{'connected_gene': 'LOC105369946', 'score': 0.39}, {'connected_gene': 'ENSG00000257681', 'score': 0.18}, {'connected_gene': 'STAB2', 'score': 0.15}]
chr12	GH12I103626	103626623	103626752	0.65	[{'connected_gene': 'ENSG00000212594', 'score': 11.47}, {'connected_gene': 'LOC643576', 'score': 4.55}, {'connected_gene': 'ENSG00000257737', 'score': 0.29}, {'connected_gene': 'STAB2', 'score': 0.28}, {'connected_gene': 'GC12P103575', 'score': 0.23}, {'connected_gene': 'GC12P103574', 'score': 0.23}, {'connected_gene': 'GC12P103576', 'score': 0.23}]
chr12	GH12I103632	103632703	103632832	0.72	[{'connected_gene': 'ENSG00000257737', 'score': 0.31}, {'connected_gene': 'ENSG00000212594', 'score': 0.26}, {'connected_gene': 'STAB2', 'score': 0.25}, {'connected_gene': 'GC12P103575', 'score': 0.22}, {'connected_gene': 'GC12P103574', 'score': 0.22}, {'connected_gene': 'GC12P103576', 'score': 0.22}]
chr12	GH12I103646	103646808	103647883	0.2	[{'connected_gene': 'ENSG00000212594', 'score': 10.73}, {'connected_gene': 'ENSG00000257737', 'score': 0.39}, {'connected_gene': 'STAB2', 'score': 0.21}, {'connected_gene': 'GC12P103575', 'score': 0.19}, {'connected_gene': 'GC12P103574', 'score': 0.19}, {'connected_gene': 'GC12P103576', 'score': 0.19}]
chr12	GH12I103652	103652963	103653112	0.43	[{'connected_gene': 'ENSG00000212594', 'score': 10.45}, {'connected_gene': 'ENSG00000257737', 'score': 0.77}, {'connected_gene': 'STAB2', 'score': 0.2}]
chr12	GH12I103575	103575305	103576000	1	[{'connected_gene': 'GC12P103575', 'score': 550.77}, {'connected_gene': 'GC12P103574', 'score': 550.77}, {'connected_gene': 'GC12P103576', 'score': 550.77}, {'connected_gene': 'STAB2', 'score': 13.09}]