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
ENST00000392455	[[191046865, 191047512], [191074876, 191074939], [191075786, 191075913], [191078857, 191078948], [191087707, 191087825], [191097947, 191098063], [191098475, 191098520], [191098616, 191098721], [191100534, 191100614], [191107284, 191107391], [191109529, 191116459]]	[[191047463, 191047512], [191074876, 191074939], [191075786, 191075913], [191078857, 191078948], [191087707, 191087825], [191097947, 191098063], [191098475, 191098520], [191098616, 191098721], [191100534, 191100614], [191107284, 191107391], [191109529, 191109549]]
ENST00000392456	[[191046873, 191047512], [191074876, 191074939], [191075786, 191075913], [191078857, 191078948], [191087707, 191087825], [191092850, 191093378], [191097947, 191098063], [191098475, 191098520], [191098616, 191098721], [191100534, 191100614], [191107284, 191107391], [191109529, 191109964]]	[[191047463, 191047512], [191074876, 191074939], [191075786, 191075913], [191078857, 191078948], [191087707, 191087825], [191092850, 191093378], [191097947, 191098063], [191098475, 191098520], [191098616, 191098721], [191100534, 191100614], [191107284, 191107391], [191109529, 191109549]]
ENST00000460064	[[191078891, 191078948], [191087707, 191088070]]	None
NM_174908	[[191046873, 191047512], [191074876, 191074939], [191075786, 191075913], [191078857, 191078948], [191087707, 191087825], [191097947, 191098063], [191098475, 191098520], [191098616, 191098721], [191100534, 191100614], [191107284, 191107391], [191109529, 191116459]]	[[191047463, 191047512], [191074876, 191074939], [191075786, 191075913], [191078857, 191078948], [191087707, 191087825], [191097947, 191098063], [191098475, 191098520], [191098616, 191098721], [191100534, 191100614], [191107284, 191107391], [191109529, 191109549]]
NM_178335	[[191046873, 191047512], [191074876, 191074939], [191075786, 191075913], [191078857, 191078948], [191087707, 191087825], [191092850, 191093378], [191097947, 191098063], [191098475, 191098520], [191098616, 191098721], [191100534, 191100614], [191107284, 191107391], [191109529, 191116459]]	[[191047463, 191047512], [191074876, 191074939], [191075786, 191075913], [191078857, 191078948], [191087707, 191087825], [191092850, 191093378], [191097947, 191098063], [191098475, 191098520], [191098616, 191098721], [191100534, 191100614], [191107284, 191107391], [191109529, 191109549]]

Promoter

Chrom	Start	End	Description
chr3	191046810	191046860	CAGE_peak_6_at_CCDC50_5end
chr3	191047018	191047047	CAGE_peak_3_at_CCDC50_5end
chr3	191047053	191047089	CAGE_peak_4_at_CCDC50_5end
chr3	191047095	191047111	CAGE_peak_7_at_CCDC50_5end
chr3	191047131	191047219	CAGE_peak_1_at_CCDC50_5end
chr3	191047220	191047257	CAGE_peak_2_at_CCDC50_5end
chr3	191047259	191047267	CAGE_peak_8_at_CCDC50_5end
chr3	191047287	191047298	CAGE_peak_11_at_CCDC50_5end
chr3	191047325	191047333	CAGE_peak_9_at_CCDC50_5end
chr3	191047352	191047366	CAGE_peak_5_at_CCDC50_5end
chr3	191047459	191047468	CAGE_peak_14_at_CCDC50_5end
chr3	191078675	191078686	CAGE_peak_17_at_CCDC50_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I190512	190512890	190518346	2.41	[{'connected_gene': 'IL1RAP', 'score': 550.77}, {'connected_gene': 'TMEM207', 'score': 9.65}, {'connected_gene': 'CCDC50', 'score': 4.74}, {'connected_gene': 'GC03P190507', 'score': 0.44}, {'connected_gene': 'GCNT1P3', 'score': 0.14}]
chr3	GH03I191141	191141451	191142404	0.69	[{'connected_gene': 'OSTN', 'score': 10.06}, {'connected_gene': 'CCDC50', 'score': 4.7}, {'connected_gene': 'GC03M191028', 'score': 0.18}]
chr3	GH03I191237	191237710	191240016	1.13	[{'connected_gene': 'UTS2B', 'score': 10.57}, {'connected_gene': 'CCDC50', 'score': 10.57}, {'connected_gene': 'OSTN-AS1', 'score': 7.03}, {'connected_gene': 'OSTN', 'score': 0.28}]
chr3	GH03I191252	191252405	191254359	0.86	[{'connected_gene': 'UTS2B', 'score': 11.59}, {'connected_gene': 'CCDC50', 'score': 11.59}, {'connected_gene': 'OSTN-AS1', 'score': 0.37}, {'connected_gene': 'OSTN', 'score': 0.23}]
chr3	GH03I191238	191237001	191237200	0.38	[{'connected_gene': 'UTS2B', 'score': 11.07}, {'connected_gene': 'CCDC50', 'score': 11.07}, {'connected_gene': 'OSTN-AS1', 'score': 0.77}, {'connected_gene': 'OSTN', 'score': 0.28}]
chr3	GH03I191263	191263401	191263800	0.38	[{'connected_gene': 'UTS2B', 'score': 15.42}, {'connected_gene': 'CCDC50', 'score': 10.86}, {'connected_gene': 'OSTN-AS1', 'score': 0.31}, {'connected_gene': 'OSTN', 'score': 0.21}]
chr3	GH03I191302	191302152	191302261	0.2	[{'connected_gene': 'UTS2B', 'score': 12.46}, {'connected_gene': 'CCDC50', 'score': 12.46}, {'connected_gene': 'OSTN-AS1', 'score': 0.2}]
chr3	GH03I191412	191412387	191413541	0.46	[{'connected_gene': 'UTS2B', 'score': 6.52}, {'connected_gene': 'CCDC50', 'score': 5.81}, {'connected_gene': 'LINCR-0002', 'score': 0.39}, {'connected_gene': 'GC03P191395', 'score': 0.37}]
chr3	GH03I191360	191360277	191361609	0.77	[{'connected_gene': 'UTS2B', 'score': 10.93}, {'connected_gene': 'CCDC50', 'score': 10.93}, {'connected_gene': 'GC03P191372', 'score': 0.39}]
chr3	GH03I191356	191355401	191355641	1.04	[{'connected_gene': 'UTS2B', 'score': 17.57}, {'connected_gene': 'CCDC50', 'score': 11.13}, {'connected_gene': 'GC03P191372', 'score': 0.37}]
chr3	GH03I191258	191258801	191259400	0.38	[{'connected_gene': 'UTS2B', 'score': 15.88}, {'connected_gene': 'OSTN-AS1', 'score': 11.38}, {'connected_gene': 'CCDC50', 'score': 10.68}, {'connected_gene': 'OSTN', 'score': 0.22}]
chr3	GH03I191269	191269005	191270365	0.65	[{'connected_gene': 'UTS2B', 'score': 5.56}, {'connected_gene': 'OSTN-AS1', 'score': 0.28}, {'connected_gene': 'CCDC50', 'score': 0.22}]
chr3	GH03I191442	191442255	191442444	0.22	[{'connected_gene': 'PYDC2', 'score': 6.24}, {'connected_gene': 'CCDC50', 'score': 4.66}, {'connected_gene': 'LINCR-0002', 'score': 0.37}]
chr3	GH03I190524	190524545	190526116	0.38	[{'connected_gene': 'CCDC50', 'score': 5.44}, {'connected_gene': 'IL1RAP', 'score': 0.39}, {'connected_gene': 'GC03P190507', 'score': 0.37}, {'connected_gene': 'GCNT1P3', 'score': 0.15}]
chr3	GH03I191350	191350401	191351199	0.99	[{'connected_gene': 'CCDC50', 'score': 20.55}, {'connected_gene': 'UTS2B', 'score': 11.59}, {'connected_gene': 'OSTN', 'score': 9.54}, {'connected_gene': 'GC03P191372', 'score': 0.34}]
chr3	GH03I191364	191364300	191373244	0.64	[{'connected_gene': 'CCDC50', 'score': 52.12}, {'connected_gene': 'UTS2B', 'score': 19.49}, {'connected_gene': 'OSTN', 'score': 10.0}, {'connected_gene': 'GC03P191372', 'score': 0.77}]
chr3	GH03I191328	191328093	191333265	2.25	[{'connected_gene': 'CCDC50', 'score': 591.05}, {'connected_gene': 'UTS2B', 'score': 556.25}, {'connected_gene': 'RN7SKP296', 'score': 9.95}, {'connected_gene': 'GC03P191372', 'score': 0.26}]
chr3	GH03I191245	191245572	191247001	1.01	[{'connected_gene': 'CCDC50', 'score': 16.22}, {'connected_gene': 'UTS2B', 'score': 11.3}, {'connected_gene': 'OSTN-AS1', 'score': 6.82}, {'connected_gene': 'OSTN', 'score': 0.25}]
chr3	GH03I191295	191295612	191297067	0.8	[{'connected_gene': 'CCDC50', 'score': 19.41}, {'connected_gene': 'UTS2B', 'score': 12.39}, {'connected_gene': 'OSTN-AS1', 'score': 10.9}]
chr3	GH03I191300	191300397	191301450	0.8	[{'connected_gene': 'CCDC50', 'score': 18.11}, {'connected_gene': 'UTS2B', 'score': 12.46}, {'connected_gene': 'OSTN-AS1', 'score': 10.89}]
chr3	GH03I191290	191290289	191291400	0.76	[{'connected_gene': 'CCDC50', 'score': 18.28}, {'connected_gene': 'UTS2B', 'score': 11.25}, {'connected_gene': 'OSTN-AS1', 'score': 0.22}]
chr3	GH03I191320	191320199	191321706	0.52	[{'connected_gene': 'CCDC50', 'score': 20.19}, {'connected_gene': 'UTS2B', 'score': 0.44}, {'connected_gene': 'OSTN-AS1', 'score': 0.17}]
chr3	GH03I191313	191313687	191314962	0.83	[{'connected_gene': 'CCDC50', 'score': 12.13}, {'connected_gene': 'UTS2B', 'score': 0.37}, {'connected_gene': 'OSTN-AS1', 'score': 0.18}]
chr3	GH03I191417	191417112	191417261	0.68	[{'connected_gene': 'CCDC50', 'score': 16.13}, {'connected_gene': 'UTS2B', 'score': 10.42}, {'connected_gene': 'LINCR-0002', 'score': 0.44}, {'connected_gene': 'GC03P191395', 'score': 0.34}]
chr3	GH03I191386	191386908	191388314	0.2	[{'connected_gene': 'CCDC50', 'score': 34.56}, {'connected_gene': 'UTS2B', 'score': 17.76}, {'connected_gene': 'GC03P191395', 'score': 0.44}, {'connected_gene': 'GC03P191372', 'score': 0.37}]
chr3	GH03I191391	191391820	191392733	0.43	[{'connected_gene': 'CCDC50', 'score': 31.34}, {'connected_gene': 'UTS2B', 'score': 11.18}, {'connected_gene': 'GC03P191395', 'score': 0.77}, {'connected_gene': 'GC03P191372', 'score': 0.34}]
chr3	GH03I191382	191382097	191384258	0.66	[{'connected_gene': 'CCDC50', 'score': 33.75}, {'connected_gene': 'UTS2B', 'score': 10.5}, {'connected_gene': 'GC03P191395', 'score': 0.39}, {'connected_gene': 'GC03P191372', 'score': 0.39}]
chr3	GH03I191375	191375952	191377747	1.14	[{'connected_gene': 'CCDC50', 'score': 50.17}, {'connected_gene': 'UTS2B', 'score': 10.57}, {'connected_gene': 'GC03P191372', 'score': 0.77}, {'connected_gene': 'GC03P191395', 'score': 0.37}]
chr3	GH03I191337	191337031	191338862	1.23	[{'connected_gene': 'CCDC50', 'score': 6.66}, {'connected_gene': 'UTS2B', 'score': 5.37}, {'connected_gene': 'GC03P191372', 'score': 0.29}]
chr3	GH03I191355	191355711	191358269	1.1	[{'connected_gene': 'CCDC50', 'score': 52.96}, {'connected_gene': 'UTS2B', 'score': 19.87}, {'connected_gene': 'GC03P191372', 'score': 0.37}]
chr3	GH03I191344	191344544	191347449	0.59	[{'connected_gene': 'CCDC50', 'score': 18.08}, {'connected_gene': 'UTS2B', 'score': 0.37}, {'connected_gene': 'GC03P191372', 'score': 0.31}]
chr3	GH03I191499	191499601	191500200	0.71	[{'connected_gene': 'CCDC50', 'score': 10.97}, {'connected_gene': 'PYDC2', 'score': 0.28}, {'connected_gene': 'LINCR-0002', 'score': 0.19}, {'connected_gene': 'ENSG00000201860', 'score': 0.11}]
chr3	GH03I191397	191397436	191398471	0.4	[{'connected_gene': 'CCDC50', 'score': 20.45}, {'connected_gene': 'GC03P191395', 'score': 0.77}, {'connected_gene': 'LINCR-0002', 'score': 0.31}]
chr3	GH03I191235	191235692	191235841	0.75	[{'connected_gene': 'OSTN-AS1', 'score': 550.77}, {'connected_gene': 'UTS2B', 'score': 11.07}, {'connected_gene': 'CCDC50', 'score': 11.07}, {'connected_gene': 'OSTN', 'score': 0.28}]
chr3	GH03I191424	191424904	191426537	0.81	[{'connected_gene': 'LINCR-0002', 'score': 550.77}, {'connected_gene': 'CCDC50', 'score': 17.83}, {'connected_gene': 'PYDC2', 'score': 0.28}]
chr3	GH03I191394	191394222	191397086	0.2	[{'connected_gene': 'GC03P191395', 'score': 550.77}, {'connected_gene': 'CCDC50', 'score': 45.88}, {'connected_gene': 'UTS2B', 'score': 10.63}, {'connected_gene': 'LINCR-0002', 'score': 0.31}]