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
ENST00000274008	[[123844228, 123844460], [123848788, 123848913], [123850194, 123850352], [123854593, 123854652], [123855251, 123855893], [123856868, 123856998], [123857254, 123857311], [123859280, 123859404], [123868387, 123868643], [123900386, 123900541], [123949340, 123949550], [123977541, 123977595], [123978363, 123978443], [124011733, 124011860], [124177170, 124177335], [124235042, 124240605]]	[[123844297, 123844460], [123848788, 123848913], [123850194, 123850352], [123854593, 123854652], [123855251, 123855893], [123856868, 123856998], [123857254, 123857311], [123859280, 123859404], [123868387, 123868643], [123900386, 123900541], [123949340, 123949550], [123977541, 123977595], [123978363, 123978443], [124011733, 124011860], [124177170, 124177335], [124235042, 124235219]]
ENST00000422835	[[123844255, 123844460], [123848788, 123848913], [123850194, 123850352], [123854593, 123854652], [123855251, 123855893], [123856868, 123856998], [123857254, 123857311], [123859280, 123859404], [123868387, 123868643], [123900386, 123900541], [123949340, 123949550], [123977541, 123977595], [123978363, 123978443], [124011733, 124011860], [124023338, 124023448]]	None
NM_001317799	[[123844224, 123844460], [123848791, 123848913], [123850194, 123850352], [123854593, 123854652], [123855251, 123855893], [123856868, 123856998], [123857254, 123857311], [123859280, 123859404], [123868387, 123868643], [123900386, 123900541], [123949340, 123949651]]	[[123844297, 123844460], [123848791, 123848913], [123850194, 123850352], [123854593, 123854652], [123855251, 123855893], [123856868, 123856998], [123857254, 123857311], [123859280, 123859404], [123868387, 123868643], [123900386, 123900541], [123949340, 123949562]]
NM_001345856	[[123844224, 123844460], [123848791, 123848913], [123850194, 123850352], [123854593, 123854652], [123855251, 123855893], [123856868, 123856998], [123857254, 123857311], [123859280, 123859404], [123868387, 123868643], [123900386, 123900541], [123949340, 123949550], [123977541, 123977595], [123978363, 123978443], [124011733, 124011860], [124177170, 124177335], [124235042, 124240605]]	[[123844297, 123844460], [123848791, 123848913], [123850194, 123850352], [123854593, 123854652], [123855251, 123855893], [123856868, 123856998], [123857254, 123857311], [123859280, 123859404], [123868387, 123868643], [123900386, 123900541], [123949340, 123949550], [123977541, 123977595], [123978363, 123978443], [124011733, 124011860], [124177170, 124177335], [124235042, 124235219]]
NM_145207	[[123844224, 123844460], [123848788, 123848913], [123850194, 123850352], [123854593, 123854652], [123855251, 123855893], [123856868, 123856998], [123857254, 123857311], [123859280, 123859404], [123868387, 123868643], [123900386, 123900541], [123949340, 123949550], [123977541, 123977595], [123978363, 123978443], [124011733, 124011860], [124177170, 124177335], [124235042, 124240605]]	[[123844297, 123844460], [123848788, 123848913], [123850194, 123850352], [123854593, 123854652], [123855251, 123855893], [123856868, 123856998], [123857254, 123857311], [123859280, 123859404], [123868387, 123868643], [123900386, 123900541], [123949340, 123949550], [123977541, 123977595], [123978363, 123978443], [124011733, 124011860], [124177170, 124177335], [124235042, 124235219]]

Promoter

Chrom	Start	End	Description
chr4	123844225	123844277	CAGE_peak_1_at_SPATA5_5end
chr4	123844281	123844297	CAGE_peak_2_at_SPATA5_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr4	GH04I122763	122762801	122766809	1.63	[{'connected_gene': 'CETN4P', 'score': 20.75}, {'connected_gene': 'FGF2', 'score': 15.11}, {'connected_gene': 'BBS12', 'score': 11.21}, {'connected_gene': 'SPATA5', 'score': 10.91}, {'connected_gene': 'NUDT6', 'score': 10.91}, {'connected_gene': 'CCNA2', 'score': 4.59}, {'connected_gene': 'LOC727709', 'score': 0.31}, {'connected_gene': 'RPL34P12', 'score': 0.23}]
chr4	GH04I122743	122743846	122745505	0.66	[{'connected_gene': 'CETN4P', 'score': 15.17}, {'connected_gene': 'FGF2', 'score': 10.94}, {'connected_gene': 'NUDT6', 'score': 10.85}, {'connected_gene': 'SPATA5', 'score': 10.85}, {'connected_gene': 'IL21-AS1', 'score': 10.38}, {'connected_gene': 'LOC727709', 'score': 0.44}, {'connected_gene': 'BBS12', 'score': 0.26}, {'connected_gene': 'RPL34P12', 'score': 0.19}]
chr4	GH04I122731	122731766	122734639	2.01	[{'connected_gene': 'CETN4P', 'score': 566.01}, {'connected_gene': 'BBS12', 'score': 550.29}, {'connected_gene': 'EXOSC9', 'score': 27.42}, {'connected_gene': 'SPATA5', 'score': 26.25}, {'connected_gene': 'KIAA1109', 'score': 12.33}, {'connected_gene': 'BBS7', 'score': 11.51}, {'connected_gene': 'ENSG00000273007', 'score': 10.98}, {'connected_gene': 'TRPC3', 'score': 10.08}, {'connected_gene': 'LOC727709', 'score': 0.44}]
chr4	GH04I122925	122925201	122925400	0.49	[{'connected_gene': 'CETN4P', 'score': 10.61}, {'connected_gene': 'BBS12', 'score': 10.6}, {'connected_gene': 'FGF2', 'score': 9.47}, {'connected_gene': 'SPATA5', 'score': 0.77}, {'connected_gene': 'COILP2', 'score': 0.15}]
chr4	GH04I122756	122756546	122757304	0.46	[{'connected_gene': 'CETN4P', 'score': 23.64}, {'connected_gene': 'BBS12', 'score': 11.22}, {'connected_gene': 'SPATA5', 'score': 10.91}, {'connected_gene': 'NUDT6', 'score': 10.91}, {'connected_gene': 'FGF2', 'score': 10.79}, {'connected_gene': 'LOC727709', 'score': 0.37}, {'connected_gene': 'RPL34P12', 'score': 0.22}]
chr4	GH04I122757	122757716	122758654	1.09	[{'connected_gene': 'CETN4P', 'score': 18.01}, {'connected_gene': 'BBS12', 'score': 11.22}, {'connected_gene': 'SPATA5', 'score': 10.9}, {'connected_gene': 'NUDT6', 'score': 10.9}, {'connected_gene': 'FGF2', 'score': 10.79}, {'connected_gene': 'LOC727709', 'score': 0.37}, {'connected_gene': 'RPL34P12', 'score': 0.22}]
chr4	GH04I122762	122762606	122762775	0.77	[{'connected_gene': 'CETN4P', 'score': 11.29}, {'connected_gene': 'BBS12', 'score': 11.21}, {'connected_gene': 'SPATA5', 'score': 10.9}, {'connected_gene': 'NUDT6', 'score': 10.9}, {'connected_gene': 'FGF2', 'score': 10.79}, {'connected_gene': 'LOC727709', 'score': 0.34}, {'connected_gene': 'RPL34P12', 'score': 0.23}]
chr4	GH04I122738	122738826	122740014	0.4	[{'connected_gene': 'LOC727709', 'score': 550.77}, {'connected_gene': 'FGF2', 'score': 10.93}, {'connected_gene': 'SPATA5', 'score': 10.84}, {'connected_gene': 'NUDT6', 'score': 10.84}, {'connected_gene': 'BBS12', 'score': 0.28}, {'connected_gene': 'RPL34P12', 'score': 0.18}]
chr4	GH04I123037	123037946	123038035	0.59	[{'connected_gene': 'COILP2', 'score': 0.39}, {'connected_gene': 'GC04P123097', 'score': 0.22}, {'connected_gene': 'SPATA5', 'score': 0.14}]
chr4	GH04I122914	122914296	122915331	0.8	[{'connected_gene': 'FGF2', 'score': 10.85}, {'connected_gene': 'CETN4P', 'score': 10.79}, {'connected_gene': 'BBS12', 'score': 10.78}, {'connected_gene': 'ENSG00000273007', 'score': 7.01}, {'connected_gene': 'NUDT6', 'score': 4.97}, {'connected_gene': 'SPATA5', 'score': 4.85}]
chr4	GH04I122781	122781621	122785849	1.44	[{'connected_gene': 'FGF2', 'score': 12.65}, {'connected_gene': 'SPATA5', 'score': 10.47}, {'connected_gene': 'NUDT6', 'score': 10.47}, {'connected_gene': 'CETN4P', 'score': 9.43}, {'connected_gene': 'SPRY1', 'score': 4.5}, {'connected_gene': 'RPL34P12', 'score': 0.29}, {'connected_gene': 'LOC727709', 'score': 0.26}]
chr4	GH04I122788	122788142	122789505	0.49	[{'connected_gene': 'FGF2', 'score': 11.5}, {'connected_gene': 'SPATA5', 'score': 10.29}, {'connected_gene': 'NUDT6', 'score': 10.29}, {'connected_gene': 'CETN4P', 'score': 9.42}, {'connected_gene': 'RPL34P12', 'score': 0.31}, {'connected_gene': 'LOC727709', 'score': 0.25}]
chr4	GH04I122766	122766948	122767439	1.07	[{'connected_gene': 'FGF2', 'score': 10.55}, {'connected_gene': 'SPATA5', 'score': 9.91}, {'connected_gene': 'NUDT6', 'score': 9.91}, {'connected_gene': 'LOC727709', 'score': 0.31}, {'connected_gene': 'RPL34P12', 'score': 0.25}]
chr4	GH04I122850	122850296	122852102	0.31	[{'connected_gene': 'FGF2', 'score': 11.92}, {'connected_gene': 'SPATA5', 'score': 10.65}, {'connected_gene': 'NUDT6', 'score': 10.65}, {'connected_gene': 'BBS12', 'score': 4.53}, {'connected_gene': 'RPS26P23', 'score': 0.39}, {'connected_gene': 'ENSG00000273007', 'score': 0.29}]
chr4	GH04I122853	122853878	122856088	0.93	[{'connected_gene': 'FGF2', 'score': 11.89}, {'connected_gene': 'SPATA5', 'score': 10.66}, {'connected_gene': 'NUDT6', 'score': 10.66}, {'connected_gene': 'RPS26P23', 'score': 0.39}, {'connected_gene': 'ENSG00000273007', 'score': 0.31}]
chr4	GH04I122780	122780406	122780555	0.4	[{'connected_gene': 'FGF2', 'score': 10.84}, {'connected_gene': 'SPATA5', 'score': 9.46}, {'connected_gene': 'NUDT6', 'score': 9.46}, {'connected_gene': 'RPL34P12', 'score': 0.28}, {'connected_gene': 'LOC727709', 'score': 0.26}]
chr4	GH04I122787	122787356	122787722	0.31	[{'connected_gene': 'FGF2', 'score': 11.5}, {'connected_gene': 'SPATA5', 'score': 10.29}, {'connected_gene': 'NUDT6', 'score': 10.29}, {'connected_gene': 'RPL34P12', 'score': 0.31}, {'connected_gene': 'LOC727709', 'score': 0.25}]
chr4	GH04I122776	122776839	122778885	1	[{'connected_gene': 'FGF2', 'score': 10.75}, {'connected_gene': 'SPATA5', 'score': 10.46}, {'connected_gene': 'NUDT6', 'score': 10.46}, {'connected_gene': 'RPL34P12', 'score': 0.28}, {'connected_gene': 'LOC727709', 'score': 0.28}]
chr4	GH04I122795	122795894	122800409	1.53	[{'connected_gene': 'FGF2', 'score': 17.12}, {'connected_gene': 'NUDT6', 'score': 9.94}, {'connected_gene': 'SPATA5', 'score': 9.94}, {'connected_gene': 'IL21-AS1', 'score': 9.3}, {'connected_gene': 'CETN4P', 'score': 9.14}, {'connected_gene': 'SPRY1', 'score': 4.49}, {'connected_gene': 'RPL34P12', 'score': 0.37}, {'connected_gene': 'LOC727709', 'score': 0.22}]
chr4	GH04I122699	122699786	122700800	1.08	[{'connected_gene': 'BBS12', 'score': 550.77}, {'connected_gene': 'SPATA5', 'score': 15.72}, {'connected_gene': 'EXOSC9', 'score': 12.55}, {'connected_gene': 'ENSG00000237868', 'score': 10.82}, {'connected_gene': 'FGF2', 'score': 10.2}, {'connected_gene': 'IL21-AS1', 'score': 10.11}, {'connected_gene': 'CETN4P', 'score': 6.04}, {'connected_gene': 'IL21', 'score': 0.18}]
chr4	GH04I122688	122688401	122689000	0.46	[{'connected_gene': 'SPATA5', 'score': 15.72}, {'connected_gene': 'EXOSC9', 'score': 12.54}, {'connected_gene': 'ENSG00000237868', 'score': 10.82}, {'connected_gene': 'IL21-AS1', 'score': 9.76}, {'connected_gene': 'BBS12', 'score': 0.39}, {'connected_gene': 'IL21', 'score': 0.2}]
chr4	GH04I122968	122968401	122968600	0.46	[{'connected_gene': 'SPATA5', 'score': 0.25}, {'connected_gene': 'COILP2', 'score': 0.22}]
chr4	GH04I122840	122840717	122844165	0.89	[{'connected_gene': 'SPATA5', 'score': 16.58}, {'connected_gene': 'ENSG00000237868', 'score': 11.67}, {'connected_gene': 'FGF2', 'score': 11.23}, {'connected_gene': 'RPS26P23', 'score': 0.77}, {'connected_gene': 'ENSG00000273007', 'score': 0.26}]
chr4	GH04I123348	123348735	123351112	1.21	[{'connected_gene': 'SPATA5', 'score': 24.71}, {'connected_gene': 'NUDT6', 'score': 7.66}, {'connected_gene': 'LINC01091', 'score': 4.21}, {'connected_gene': 'LOC105377404', 'score': 0.34}, {'connected_gene': 'SPRY1', 'score': 0.25}, {'connected_gene': 'GC04P123213', 'score': 0.12}]
chr4	GH04I122602	122602962	122603579	0.84	[{'connected_gene': 'SPATA5', 'score': 10.52}, {'connected_gene': 'NUDT6', 'score': 10.52}, {'connected_gene': 'IL21-AS1', 'score': 0.37}, {'connected_gene': 'IL2', 'score': 0.11}]
chr4	GH04I123776	123776435	123778709	0.85	[{'connected_gene': 'SPATA5', 'score': 11.18}, {'connected_gene': 'SPRY1', 'score': 9.97}, {'connected_gene': 'LINC01091', 'score': 7.75}, {'connected_gene': 'RPL21P50', 'score': 0.29}, {'connected_gene': 'ENSG00000250458', 'score': 0.18}]
chr4	GH04I123392	123392471	123395113	0.31	[{'connected_gene': 'SPATA5', 'score': 14.3}, {'connected_gene': 'SPRY1', 'score': 5.13}, {'connected_gene': 'FGF2', 'score': 4.54}, {'connected_gene': 'LOC105377404', 'score': 0.2}, {'connected_gene': 'GC04P123213', 'score': 0.09}]
chr4	GH04I123235	123235025	123236248	0.2	[{'connected_gene': 'SPATA5', 'score': 4.35}, {'connected_gene': 'GC04P123213', 'score': 0.34}, {'connected_gene': 'ENSG00000250322', 'score': 0.34}]
chr4	GH04I123017	123017121	123019443	0.31	[{'connected_gene': 'NUDT6', 'score': 11.84}, {'connected_gene': 'COILP2', 'score': 0.44}, {'connected_gene': 'SPATA5', 'score': 0.15}]
chr4	GH04I123083	123083601	123084200	0.2	[{'connected_gene': 'NUDT6', 'score': 10.51}, {'connected_gene': 'GC04P123097', 'score': 0.39}, {'connected_gene': 'COILP2', 'score': 0.21}, {'connected_gene': 'SPATA5', 'score': 0.1}]
chr4	GH04I122877	122877290	122879689	0.2	[{'connected_gene': 'NUDT6', 'score': 21.9}, {'connected_gene': 'SPATA5', 'score': 14.85}, {'connected_gene': 'FGF2', 'score': 11.15}, {'connected_gene': 'ENSG00000273007', 'score': 4.41}, {'connected_gene': 'RPS26P23', 'score': 0.28}]
chr4	GH04I122897	122897287	122900216	1.05	[{'connected_gene': 'NUDT6', 'score': 22.01}, {'connected_gene': 'SPATA5', 'score': 10.6}, {'connected_gene': 'FGF2', 'score': 10.59}, {'connected_gene': 'ENSG00000273007', 'score': 4.46}]
chr4	GH04I122891	122891351	122892937	0.31	[{'connected_gene': 'NUDT6', 'score': 22.24}, {'connected_gene': 'SPATA5', 'score': 10.65}, {'connected_gene': 'FGF2', 'score': 10.5}, {'connected_gene': 'ENSG00000273007', 'score': 5.46}]
chr4	GH04I122920	122920756	122924558	2.02	[{'connected_gene': 'NUDT6', 'score': 562.63}, {'connected_gene': 'SPATA5', 'score': 550.77}, {'connected_gene': 'ENSG00000237868', 'score': 9.65}, {'connected_gene': 'FGF2', 'score': 5.09}, {'connected_gene': 'ENSG00000273007', 'score': 4.17}]
chr4	GH04I123120	123120106	123121103	0.31	[{'connected_gene': 'NUDT6', 'score': 10.28}, {'connected_gene': 'ENSG00000273007', 'score': 3.92}, {'connected_gene': 'GC04P123097', 'score': 0.34}, {'connected_gene': 'GC04P123213', 'score': 0.16}, {'connected_gene': 'SPATA5', 'score': 0.08}]
chr4	GH04I123152	123152351	123152515	0.22	[{'connected_gene': 'NUDT6', 'score': 1.24}, {'connected_gene': 'GC04P123097', 'score': 0.23}, {'connected_gene': 'GC04P123213', 'score': 0.21}, {'connected_gene': 'SPATA5', 'score': 0.07}]
chr4	GH04I123250	123250946	123251095	0.31	[{'connected_gene': 'NUDT6', 'score': 10.69}, {'connected_gene': 'ENSG00000250322', 'score': 0.44}, {'connected_gene': 'GC04P123213', 'score': 0.28}, {'connected_gene': 'SPATA5', 'score': 0.05}]
chr4	GH04I123303	123303278	123306494	1.02	[{'connected_gene': 'NUDT6', 'score': 8.07}, {'connected_gene': 'GC04P123321', 'score': 0.37}, {'connected_gene': 'GC04P123284', 'score': 0.34}, {'connected_gene': 'GC04P123213', 'score': 0.16}, {'connected_gene': 'SPATA5', 'score': 0.05}]
chr4	GH04I123104	123104254	123105500	0.31	[{'connected_gene': 'NUDT6', 'score': 10.88}, {'connected_gene': 'GC04P123097', 'score': 0.44}, {'connected_gene': 'GC04P123213', 'score': 0.14}, {'connected_gene': 'SPATA5', 'score': 0.09}]
chr4	GH04I123127	123127363	123128957	0.58	[{'connected_gene': 'NUDT6', 'score': 4.57}, {'connected_gene': 'GC04P123097', 'score': 0.29}, {'connected_gene': 'GC04P123213', 'score': 0.17}, {'connected_gene': 'SPATA5', 'score': 0.08}]
chr4	GH04I123112	123112517	123114430	0.2	[{'connected_gene': 'NUDT6', 'score': 10.64}, {'connected_gene': 'GC04P123097', 'score': 0.37}, {'connected_gene': 'GC04P123213', 'score': 0.15}, {'connected_gene': 'SPATA5', 'score': 0.08}]
chr4	GH04I123297	123297861	123300188	0.86	[{'connected_gene': 'NUDT6', 'score': 4.53}, {'connected_gene': 'GC04P123284', 'score': 0.39}, {'connected_gene': 'GC04P123321', 'score': 0.34}, {'connected_gene': 'GC04P123213', 'score': 0.17}, {'connected_gene': 'SPATA5', 'score': 0.05}]
chr4	GH04I123257	123257604	123258525	0.31	[{'connected_gene': 'NUDT6', 'score': 7.66}, {'connected_gene': 'ENSG00000250322', 'score': 0.77}, {'connected_gene': 'GC04P123213', 'score': 0.26}, {'connected_gene': 'SPATA5', 'score': 0.06}]
chr4	GH04I123063	123063991	123065284	0.84	[{'connected_gene': 'GC04P123097', 'score': 0.29}, {'connected_gene': 'COILP2', 'score': 0.26}, {'connected_gene': 'SPATA5', 'score': 0.11}]
chr4	GH04I123232	123232600	123232801	0.38	[{'connected_gene': 'GC04P123213', 'score': 0.37}, {'connected_gene': 'ENSG00000250322', 'score': 0.31}, {'connected_gene': 'SPATA5', 'score': 0.06}]
chr4	GH04I123312	123312363	123312973	0.4	[{'connected_gene': 'GC04P123321', 'score': 0.44}, {'connected_gene': 'GC04P123284', 'score': 0.31}, {'connected_gene': 'GC04P123213', 'score': 0.15}, {'connected_gene': 'SPATA5', 'score': 0.05}]
chr4	GH04I123244	123244201	123244401	0.43	[{'connected_gene': 'ENSG00000250322', 'score': 0.37}, {'connected_gene': 'GC04P123213', 'score': 0.29}, {'connected_gene': 'SPATA5', 'score': 0.05}]
chr4	GH04I123233	123233201	123233800	0.58	[{'connected_gene': 'GC04P123213', 'score': 0.37}, {'connected_gene': 'ENSG00000250322', 'score': 0.31}, {'connected_gene': 'SPATA5', 'score': 0.06}]
chr4	GH04I123121	123121452	123121535	0.49	[{'connected_gene': 'GC04P123097', 'score': 0.34}, {'connected_gene': 'GC04P123213', 'score': 0.16}, {'connected_gene': 'SPATA5', 'score': 0.08}]
chr4	GH04I123313	123313226	123313375	0.46	[{'connected_gene': 'GC04P123321', 'score': 0.44}, {'connected_gene': 'GC04P123284', 'score': 0.31}, {'connected_gene': 'GC04P123213', 'score': 0.15}, {'connected_gene': 'SPATA5', 'score': 0.05}]
chr4	GH04I123122	123121646	123121795	0.56	[{'connected_gene': 'GC04P123097', 'score': 0.34}, {'connected_gene': 'GC04P123213', 'score': 0.16}, {'connected_gene': 'SPATA5', 'score': 0.08}]