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
ENST00000418919	[[65107224, 65110599], [65113801, 65113962], [65115374, 65115485], [65116785, 65116893], [65122735, 65122837], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65139504], [65141491, 65141698], [65146477, 65146651]]	[[65110520, 65110599], [65113801, 65113962], [65115374, 65115485], [65116785, 65116893], [65122735, 65122837], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65139504], [65141491, 65141698], [65146477, 65146561]]
ENST00000258145	[[65107228, 65110599], [65113801, 65113962], [65115374, 65115485], [65116785, 65116893], [65122735, 65122837], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65139504], [65141491, 65141698], [65146477, 65146537], [65152864, 65153227]]	[[65110520, 65110599], [65113801, 65113962], [65115374, 65115485], [65116785, 65116893], [65122735, 65122837], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65139504], [65141491, 65141698], [65146477, 65146537], [65152864, 65153056]]
ENST00000543646	[[65110241, 65110599], [65113801, 65113962], [65115374, 65115485], [65116785, 65116893], [65122735, 65122837], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65139504], [65141491, 65141698], [65146477, 65146537], [65150446, 65150542], [65152864, 65153186]]	[[65110520, 65110599], [65113801, 65113962], [65115374, 65115485], [65116785, 65116893], [65122735, 65122837], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65139504], [65141491, 65141698], [65146477, 65146537], [65150446, 65150542], [65152864, 65153056]]
ENST00000542058	[[65110254, 65110599], [65113801, 65113962], [65115374, 65115485], [65116785, 65116893], [65122735, 65122837], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65139504], [65141491, 65141698], [65152864, 65153211]]	[[65110520, 65110599], [65113801, 65113962], [65115374, 65115485], [65116785, 65116893], [65122735, 65122837], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65139504], [65141491, 65141698], [65152864, 65153056]]
ENST00000545273	[[65133183, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65139504], [65141491, 65141698], [65146477, 65146537], [65146624, 65146751]]	[[65133183, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65139504], [65141491, 65141698], [65146477, 65146501]]
ENST00000541781	[[65110388, 65110599], [65113801, 65113962], [65115374, 65115485], [65116785, 65116893], [65122735, 65122837], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65140018]]	None
ENST00000537823	[[65113818, 65113962], [65115374, 65115485], [65116785, 65116893], [65122735, 65122934]]	None
ENST00000540196	[[65113830, 65113962], [65115374, 65115485], [65116785, 65116893], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138670]]	[[65113830, 65113962], [65115374, 65115485], [65116785, 65116893], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138670]]
ENST00000540883	[[65116612, 65116893], [65122735, 65122998]]	None
NM_002076	[[65107221, 65110599], [65113801, 65113962], [65115374, 65115485], [65116785, 65116893], [65122735, 65122837], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65139504], [65141491, 65141698], [65146477, 65146537], [65152864, 65153226]]	[[65110520, 65110599], [65113801, 65113962], [65115374, 65115485], [65116785, 65116893], [65122735, 65122837], [65130783, 65130887], [65133160, 65133279], [65134385, 65134468], [65136920, 65137088], [65138588, 65138687], [65139438, 65139504], [65141491, 65141698], [65146477, 65146537], [65152864, 65153056]]

Promoter

Chrom	Start	End	Description
chr12	65146636	65146645	CAGE_peak_9_at_GNS_5end
chr12	65146669	65146704	CAGE_peak_3_at_GNS_5end
chr12	65146706	65146711	CAGE_peak_17_at_GNS_5end
chr12	65146717	65146754	CAGE_peak_4_at_GNS_5end
chr12	65153154	65153171	CAGE_peak_2_at_GNS_5end
chr12	65153175	65153229	CAGE_peak_1_at_GNS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I064746	64746107	64748739	0.84	[{'connected_gene': 'TBK1', 'score': 15.69}, {'connected_gene': 'GNS', 'score': 10.16}, {'connected_gene': 'RASSF3', 'score': 3.16}, {'connected_gene': 'LEMD3', 'score': 1.65}, {'connected_gene': 'PIR33058', 'score': 0.77}, {'connected_gene': 'GC12P064723', 'score': 0.31}, {'connected_gene': 'GC12P064711', 'score': 0.28}]
chr12	GH12I064800	64800618	64801053	0.65	[{'connected_gene': 'TBK1', 'score': 11.42}, {'connected_gene': 'RNU6-166P', 'score': 10.6}, {'connected_gene': 'RASSF3', 'score': 2.47}, {'connected_gene': 'LEMD3', 'score': 1.65}, {'connected_gene': 'GNS', 'score': 1.35}, {'connected_gene': 'TBC1D30', 'score': 0.37}, {'connected_gene': 'GC12M064868', 'score': 0.2}, {'connected_gene': 'GC12P064723', 'score': 0.18}, {'connected_gene': 'GC12P064711', 'score': 0.17}]
chr12	GH12I064632	64632051	64635809	1.31	[{'connected_gene': 'RASSF3', 'score': 16.46}, {'connected_gene': 'GNS', 'score': 15.43}, {'connected_gene': 'LOC105369804', 'score': 11.75}, {'connected_gene': 'ENSG00000215159', 'score': 10.69}, {'connected_gene': 'ENSG00000223294', 'score': 10.33}, {'connected_gene': 'ENSG00000225195', 'score': 0.44}, {'connected_gene': 'ENSG00000256314', 'score': 0.34}]
chr12	GH12I064631	64631037	64631970	0.58	[{'connected_gene': 'RASSF3', 'score': 5.05}, {'connected_gene': 'GNS', 'score': 4.73}, {'connected_gene': 'ENSG00000225195', 'score': 0.77}, {'connected_gene': 'ENSG00000256314', 'score': 0.34}]
chr12	GH12I064607	64607939	64613865	2.59	[{'connected_gene': 'RASSF3', 'score': 562.13}, {'connected_gene': 'LOC105369804', 'score': 550.77}, {'connected_gene': 'TBK1', 'score': 28.56}, {'connected_gene': 'LOC100420899', 'score': 10.02}, {'connected_gene': 'ATP6V1E1P3', 'score': 4.76}, {'connected_gene': 'C12orf66', 'score': 3.33}, {'connected_gene': 'GNS', 'score': 1.74}, {'connected_gene': 'GC12P064623', 'score': 0.39}]
chr12	GH12I064640	64640645	64641050	0.2	[{'connected_gene': 'RASSF3', 'score': 16.88}, {'connected_gene': 'LOC105369804', 'score': 11.95}, {'connected_gene': 'GNS', 'score': 4.6}, {'connected_gene': 'ENSG00000225195', 'score': 0.39}, {'connected_gene': 'ENSG00000256314', 'score': 0.39}]
chr12	GH12I064756	64756154	64760693	2.07	[{'connected_gene': 'GNS', 'score': 573.38}, {'connected_gene': 'ENSG00000215159', 'score': 550.77}, {'connected_gene': 'LEMD3', 'score': 23.44}, {'connected_gene': 'TBK1', 'score': 18.77}, {'connected_gene': 'LOC100420899', 'score': 13.23}, {'connected_gene': 'ENSG00000250280', 'score': 10.31}, {'connected_gene': 'PIR33058', 'score': 0.39}, {'connected_gene': 'GC12P064723', 'score': 0.28}, {'connected_gene': 'GC12P064711', 'score': 0.25}]
chr12	GH12I064826	64826341	64826610	0.76	[{'connected_gene': 'GNS', 'score': 16.28}, {'connected_gene': 'GC12M064868', 'score': 0.26}, {'connected_gene': 'TBC1D30', 'score': 0.25}, {'connected_gene': 'GC12P064711', 'score': 0.14}]
chr12	GH12I064729	64729434	64732008	1.05	[{'connected_gene': 'GNS', 'score': 24.77}, {'connected_gene': 'LOC105369804', 'score': 11.42}, {'connected_gene': 'RASSF3', 'score': 11.37}, {'connected_gene': 'PIR33058', 'score': 0.39}, {'connected_gene': 'GC12P064723', 'score': 0.39}, {'connected_gene': 'GC12P064711', 'score': 0.37}]
chr12	GH12I064706	64706144	64707848	0.31	[{'connected_gene': 'GNS', 'score': 21.77}, {'connected_gene': 'LOC105369804', 'score': 11.45}, {'connected_gene': 'RASSF3', 'score': 11.38}, {'connected_gene': 'ENSG00000223294', 'score': 10.66}, {'connected_gene': 'ENSG00000280181', 'score': 0.77}, {'connected_gene': 'ENSG00000280320', 'score': 0.39}]
chr12	GH12I064733	64733521	64735883	0.67	[{'connected_gene': 'GNS', 'score': 24.83}, {'connected_gene': 'LOC105369804', 'score': 11.42}, {'connected_gene': 'RASSF3', 'score': 11.37}, {'connected_gene': 'PIR33058', 'score': 0.39}, {'connected_gene': 'GC12P064723', 'score': 0.39}, {'connected_gene': 'GC12P064711', 'score': 0.34}]
chr12	GH12I064738	64738508	64739548	0.2	[{'connected_gene': 'GNS', 'score': 22.29}, {'connected_gene': 'LOC105369804', 'score': 11.42}, {'connected_gene': 'RASSF3', 'score': 11.37}, {'connected_gene': 'PIR33058', 'score': 0.44}, {'connected_gene': 'GC12P064723', 'score': 0.37}, {'connected_gene': 'GC12P064711', 'score': 0.31}]
chr12	GH12I064749	64749482	64750400	0.31	[{'connected_gene': 'GNS', 'score': 23.26}, {'connected_gene': 'PIR33058', 'score': 0.44}, {'connected_gene': 'GC12P064723', 'score': 0.31}, {'connected_gene': 'GC12P064711', 'score': 0.28}]
chr12	GH12I064760	64760961	64761010	0.2	[{'connected_gene': 'GNS', 'score': 550.77}, {'connected_gene': 'ENSG00000215159', 'score': 550.77}, {'connected_gene': 'GC12P064764', 'score': 0.77}, {'connected_gene': 'GC12P064723', 'score': 0.26}, {'connected_gene': 'GC12P064711', 'score': 0.25}]
chr12	GH12I064740	64740339	64741000	0.4	[{'connected_gene': 'GNS', 'score': 23.88}, {'connected_gene': 'PIR33058', 'score': 0.77}, {'connected_gene': 'GC12P064723', 'score': 0.34}, {'connected_gene': 'GC12P064711', 'score': 0.31}]
chr12	GH12I064752	64752478	64753642	0.69	[{'connected_gene': 'GNS', 'score': 23.25}, {'connected_gene': 'PIR33058', 'score': 0.44}, {'connected_gene': 'GC12P064723', 'score': 0.29}, {'connected_gene': 'GC12P064711', 'score': 0.26}]
chr12	GH12I064664	64664402	64686209	1.77	[{'connected_gene': 'LEMD3', 'score': 29.31}, {'connected_gene': 'TBK1', 'score': 22.84}, {'connected_gene': 'RASSF3', 'score': 19.48}, {'connected_gene': 'LOC100420899', 'score': 13.25}, {'connected_gene': 'LOC105369804', 'score': 12.44}, {'connected_gene': 'MIR548C', 'score': 12.18}, {'connected_gene': 'ENSG00000223294', 'score': 10.84}, {'connected_gene': 'GNS', 'score': 4.57}, {'connected_gene': 'C12orf66', 'score': 4.14}, {'connected_gene': 'ENSG00000280320', 'score': 0.34}, {'connected_gene': 'ENSG00000256314', 'score': 0.34}]
chr12	GH12I064778	64778396	64783090	1.73	[{'connected_gene': 'TBC1D30', 'score': 550.77}, {'connected_gene': 'TBK1', 'score': 29.91}, {'connected_gene': 'GNS', 'score': 20.07}, {'connected_gene': 'PABPC1P4', 'score': 18.76}, {'connected_gene': 'LEMD3', 'score': 16.52}, {'connected_gene': 'LOC100420899', 'score': 9.8}, {'connected_gene': 'RASSF3', 'score': 3.65}, {'connected_gene': 'GC12P064764', 'score': 0.37}, {'connected_gene': 'ENSG00000215159', 'score': 0.34}, {'connected_gene': 'GC12P064723', 'score': 0.21}, {'connected_gene': 'GC12P064711', 'score': 0.2}]
chr12	GH12I064637	64637201	64637800	0.38	[{'connected_gene': 'LOC105369804', 'score': 11.97}, {'connected_gene': 'RASSF3', 'score': 11.78}, {'connected_gene': 'GNS', 'score': 10.69}, {'connected_gene': 'ENSG00000215159', 'score': 10.69}, {'connected_gene': 'ENSG00000223294', 'score': 10.31}, {'connected_gene': 'ENSG00000225195', 'score': 0.44}, {'connected_gene': 'ENSG00000256314', 'score': 0.37}]
chr12	GH12I064690	64690676	64692902	1.05	[{'connected_gene': 'LOC105369804', 'score': 11.85}, {'connected_gene': 'RASSF3', 'score': 11.76}, {'connected_gene': 'ENSG00000223294', 'score': 10.27}, {'connected_gene': 'GNS', 'score': 4.45}, {'connected_gene': 'ENSG00000280320', 'score': 0.77}, {'connected_gene': 'ENSG00000256314', 'score': 0.28}]
chr12	GH12I064580	64580708	64581549	0.31	[{'connected_gene': 'LOC105369804', 'score': 11.81}, {'connected_gene': 'RASSF3', 'score': 11.69}, {'connected_gene': 'GNS', 'score': 10.48}, {'connected_gene': 'ENSG00000215159', 'score': 10.48}, {'connected_gene': 'GC12P064587', 'score': 0.44}, {'connected_gene': 'ENSG00000223294', 'score': 0.44}]
chr12	GH12I064700	64700043	64701886	0.89	[{'connected_gene': 'LOC105369804', 'score': 11.57}, {'connected_gene': 'RASSF3', 'score': 11.5}, {'connected_gene': 'GNS', 'score': 5.38}, {'connected_gene': 'ENSG00000280320', 'score': 0.77}, {'connected_gene': 'ENSG00000280181', 'score': 0.44}]
chr12	GH12I064618	64618569	64628681	2.07	[{'connected_gene': 'GC12P064623', 'score': 550.77}, {'connected_gene': 'MIR548C', 'score': 550.77}, {'connected_gene': 'MIR548Z', 'score': 550.77}, {'connected_gene': 'TBK1', 'score': 16.4}, {'connected_gene': 'RASSF3', 'score': 9.27}, {'connected_gene': 'ATP6V1E1P3', 'score': 5.1}, {'connected_gene': 'GNS', 'score': 5.01}, {'connected_gene': 'ENSG00000225195', 'score': 0.77}]
chr12	GH12I064713	64713634	64718392	0.92	[{'connected_gene': 'PIR57161', 'score': 550.77}, {'connected_gene': 'PIR39333', 'score': 550.77}, {'connected_gene': 'GNS', 'score': 36.88}, {'connected_gene': 'ENSG00000215159', 'score': 11.46}, {'connected_gene': 'LOC105369804', 'score': 11.29}, {'connected_gene': 'RASSF3', 'score': 11.23}, {'connected_gene': 'GC12P064711', 'score': 0.77}]
chr12	GH12I064747	64745801	64746000	0.2	[{'connected_gene': 'PIR33058', 'score': 550.77}, {'connected_gene': 'GNS', 'score': 0.39}, {'connected_gene': 'GC12P064723', 'score': 0.31}, {'connected_gene': 'GC12P064711', 'score': 0.29}]
chr12	GH12I064745	64745501	64745650	0.38	[{'connected_gene': 'PIR33058', 'score': 550.77}, {'connected_gene': 'GNS', 'score': 0.39}, {'connected_gene': 'GC12P064723', 'score': 0.31}, {'connected_gene': 'GC12P064711', 'score': 0.29}]
chr12	GH12I064744	64744657	64745390	0.76	[{'connected_gene': 'PIR33058', 'score': 550.77}, {'connected_gene': 'GNS', 'score': 0.39}, {'connected_gene': 'GC12P064723', 'score': 0.34}, {'connected_gene': 'GC12P064711', 'score': 0.29}]
chr12	GH12I064723	64723744	64724472	0.66	[{'connected_gene': 'GC12P064723', 'score': 0.77}, {'connected_gene': 'GC12P064711', 'score': 0.39}, {'connected_gene': 'PIR33058', 'score': 0.34}, {'connected_gene': 'GNS', 'score': 0.28}]