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
ENST00000372970	[[42825135, 42826379], [42831600, 42831714], [42835520, 42835638], [42835924, 42835959], [42836193, 42836233], [42838651, 42838716]]	[[42825691, 42826379], [42831600, 42831714], [42835520, 42835597]]
ENST00000255174	[[42825135, 42826379], [42831600, 42831714], [42835520, 42835638], [42839335, 42839431]]	[[42825691, 42826379], [42831600, 42831714], [42835520, 42835597]]
NM_016470	[[42824578, 42826379], [42831600, 42831714], [42835520, 42835638], [42839335, 42839546]]	[[42825691, 42826379], [42831600, 42831714], [42835520, 42835597]]

Promoter

Chrom	Start	End	Description
chr20	42839138	42839152	CAGE_peak_4_at_C20orf111_5end
chr20	42839173	42839196	CAGE_peak_3_at_C20orf111_5end
chr20	42839357	42839376	CAGE_peak_2_at_C20orf111_5end
chr20	42839378	42839477	CAGE_peak_1_at_C20orf111_5end
chr20	42839543	42839554	CAGE_peak_8_at_C20orf111_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr20	GH20I043957	43957854	43961036	1.6	[{'connected_gene': 'TOX2', 'score': 18.08}, {'connected_gene': 'OSER1', 'score': 4.62}, {'connected_gene': 'RN7SL443P', 'score': 0.25}]
chr20	GH20I043936	43936094	43944658	1.53	[{'connected_gene': 'TOX2', 'score': 13.08}, {'connected_gene': 'L3MBTL1', 'score': 11.53}, {'connected_gene': 'OSER1', 'score': 2.93}, {'connected_gene': 'RN7SL443P', 'score': 0.2}]
chr20	GH20I044867	44867401	44867829	0.99	[{'connected_gene': 'PABPC1L', 'score': 16.75}, {'connected_gene': 'YWHAB', 'score': 14.75}, {'connected_gene': 'KCNK15', 'score': 11.77}, {'connected_gene': 'KCNK15-AS1', 'score': 11.77}, {'connected_gene': 'RIMS4', 'score': 10.76}, {'connected_gene': 'ENSG00000132832', 'score': 10.75}, {'connected_gene': 'OSER1', 'score': 9.79}, {'connected_gene': 'GC20M044881', 'score': 0.39}, {'connected_gene': 'GC20M044880', 'score': 0.39}, {'connected_gene': 'PGBD4P2', 'score': 0.31}]
chr20	GH20I044246	44246991	44247855	1.17	[{'connected_gene': 'GDAP1L1', 'score': 550.77}, {'connected_gene': 'OSER1', 'score': 5.91}, {'connected_gene': 'GC20M044290', 'score': 0.26}]
chr20	GH20I044965	44965174	44972677	2.58	[{'connected_gene': 'STK4', 'score': 575.1}, {'connected_gene': 'PCIF1', 'score': 24.39}, {'connected_gene': 'SYS1', 'score': 14.48}, {'connected_gene': 'ENSG00000271984', 'score': 12.46}, {'connected_gene': 'PABPC1L', 'score': 10.77}, {'connected_gene': 'DNTTIP1', 'score': 10.34}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'WFDC5', 'score': 7.35}, {'connected_gene': 'TOMM34', 'score': 6.2}, {'connected_gene': 'SERINC3', 'score': 4.71}, {'connected_gene': 'YWHAB', 'score': 1.84}, {'connected_gene': 'ADA', 'score': 1.18}, {'connected_gene': 'STK4-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000252021', 'score': 0.28}]
chr20	GH20I043456	43456506	43459926	2.51	[{'connected_gene': 'SRSF6', 'score': 588.56}, {'connected_gene': 'L3MBTL1', 'score': 28.38}, {'connected_gene': 'IFT52', 'score': 10.39}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'GC20P043474', 'score': 0.39}]
chr20	GH20I044608	44608490	44612180	1.72	[{'connected_gene': 'KCNK15', 'score': 12.11}, {'connected_gene': 'PKIG', 'score': 11.08}, {'connected_gene': 'SYS1', 'score': 9.78}, {'connected_gene': 'TTPAL', 'score': 5.19}, {'connected_gene': 'ENSG00000132832', 'score': 4.4}, {'connected_gene': 'ADA', 'score': 3.07}, {'connected_gene': 'OSER1', 'score': 1.93}, {'connected_gene': 'STK4', 'score': 1.36}, {'connected_gene': 'PIR61280', 'score': 0.39}, {'connected_gene': 'GC20M044554', 'score': 0.28}]
chr20	GH20I044173	44173956	44189616	2.62	[{'connected_gene': 'JPH2', 'score': 569.71}, {'connected_gene': 'SRSF6', 'score': 67.97}, {'connected_gene': 'OSER1', 'score': 30.83}, {'connected_gene': 'L3MBTL1', 'score': 20.83}, {'connected_gene': 'FITM2', 'score': 13.17}, {'connected_gene': 'IFT52', 'score': 10.92}, {'connected_gene': 'SGK2', 'score': 9.84}, {'connected_gene': 'OSER1-AS1', 'score': 7.55}, {'connected_gene': 'GC20P044130', 'score': 0.23}]
chr20	GH20I044160	44160846	44162624	0.31	[{'connected_gene': 'JPH2', 'score': 4.94}, {'connected_gene': 'OSER1', 'score': 4.66}, {'connected_gene': 'ENSG00000132832', 'score': 4.25}, {'connected_gene': 'GC20P044130', 'score': 0.29}]
chr20	GH20I044156	44156209	44160733	0.6	[{'connected_gene': 'JPH2', 'score': 4.62}, {'connected_gene': 'OSER1', 'score': 4.51}, {'connected_gene': 'GC20P044130', 'score': 0.31}]
chr20	GH20I044190	44190341	44190601	0.95	[{'connected_gene': 'JPH2', 'score': 7.17}, {'connected_gene': 'OSER1', 'score': 0.34}]
chr20	GH20I044165	44165339	44168193	0.99	[{'connected_gene': 'JPH2', 'score': 11.24}, {'connected_gene': 'FITM2', 'score': 10.76}, {'connected_gene': 'OSER1', 'score': 7.3}, {'connected_gene': 'TTPAL', 'score': 6.35}, {'connected_gene': 'GC20P044130', 'score': 0.28}]
chr20	GH20I044278	44278880	44280086	0.43	[{'connected_gene': 'OSER1', 'score': 10.38}, {'connected_gene': 'GC20M044290', 'score': 0.39}, {'connected_gene': 'GDAP1L1', 'score': 0.29}]
chr20	GH20I044216	44216999	44220678	1.5	[{'connected_gene': 'OSER1', 'score': 18.48}, {'connected_gene': 'SRSF6', 'score': 15.96}, {'connected_gene': 'FITM2', 'score': 12.31}, {'connected_gene': 'LINC01620', 'score': 10.54}, {'connected_gene': 'LINC01430', 'score': 10.54}, {'connected_gene': 'OSER1-AS1', 'score': 9.87}, {'connected_gene': 'JPH2', 'score': 4.6}, {'connected_gene': 'GDAP1L1', 'score': 0.31}]
chr20	GH20I044151	44151124	44155810	1.33	[{'connected_gene': 'OSER1', 'score': 4.57}, {'connected_gene': 'GC20P044130', 'score': 0.34}, {'connected_gene': 'JPH2', 'score': 0.29}]
chr20	GH20I044203	44202019	44202465	0.31	[{'connected_gene': 'OSER1', 'score': 0.44}, {'connected_gene': 'JPH2', 'score': 0.39}]
chr20	GH20I044319	44319961	44320226	0.7	[{'connected_gene': 'OSER1', 'score': 10.89}, {'connected_gene': 'FITM2', 'score': 0.44}, {'connected_gene': 'R3HDML', 'score': 0.37}]
chr20	GH20I044301	44301640	44303603	0.92	[{'connected_gene': 'OSER1', 'score': 6.74}, {'connected_gene': 'FITM2', 'score': 0.44}, {'connected_gene': 'GC20M044290', 'score': 0.39}]
chr20	GH20I044067	44067963	44071390	1.43	[{'connected_gene': 'OSER1', 'score': 2.67}, {'connected_gene': 'RN7SL443P', 'score': 0.21}, {'connected_gene': 'GC20P044130', 'score': 0.21}, {'connected_gene': 'TOX2', 'score': 0.1}]
chr20	GH20I043750	43750807	43753200	1.31	[{'connected_gene': 'OSER1', 'score': 1.27}, {'connected_gene': 'GC20P043769', 'score': 0.37}, {'connected_gene': 'LOC101927200', 'score': 0.34}]
chr20	GH20I044231	44231761	44231990	0.46	[{'connected_gene': 'OSER1', 'score': 8.73}, {'connected_gene': 'OSER1-AS1', 'score': 7.87}, {'connected_gene': 'GDAP1L1', 'score': 0.37}]
chr20	GH20I044206	44206836	44212942	2.33	[{'connected_gene': 'OSER1', 'score': 570.29}, {'connected_gene': 'OSER1-AS1', 'score': 566.22}, {'connected_gene': 'SRSF6', 'score': 22.04}, {'connected_gene': 'FITM2', 'score': 12.3}, {'connected_gene': 'L3MBTL1', 'score': 11.73}, {'connected_gene': 'KCNK15', 'score': 11.53}, {'connected_gene': 'IFT52', 'score': 11.19}, {'connected_gene': 'WISP2', 'score': 10.49}, {'connected_gene': 'JPH2', 'score': 0.34}]
chr20	GH20I044202	44202728	44205699	1.51	[{'connected_gene': 'OSER1', 'score': 20.51}, {'connected_gene': 'OSER1-AS1', 'score': 5.81}, {'connected_gene': 'JPH2', 'score': 0.37}]
chr20	GH20I043666	43666187	43668243	1.97	[{'connected_gene': 'MYBL2', 'score': 571.46}, {'connected_gene': 'IFT52', 'score': 24.01}, {'connected_gene': 'SRSF6', 'score': 10.25}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'GC20M043632', 'score': 0.29}]
chr20	GH20I045068	45068911	45072572	1.36	[{'connected_gene': 'KCNS1', 'score': 15.75}, {'connected_gene': 'ZNF335', 'score': 15.48}, {'connected_gene': 'PCIF1', 'score': 14.33}, {'connected_gene': 'ENSG00000271984', 'score': 12.46}, {'connected_gene': 'WFDC5', 'score': 10.98}, {'connected_gene': 'DNTTIP1', 'score': 10.34}, {'connected_gene': 'OSER1', 'score': 9.75}, {'connected_gene': 'STK4', 'score': 8.88}, {'connected_gene': 'PIR48188', 'score': 0.44}, {'connected_gene': 'ENSG00000252021', 'score': 0.2}]
chr20	GH20I043761	43761377	43761632	0.22	[{'connected_gene': 'GTSF1L', 'score': 1.77}, {'connected_gene': 'OSER1', 'score': 1.33}, {'connected_gene': 'GC20P043769', 'score': 0.44}, {'connected_gene': 'LOC101927200', 'score': 0.29}]
chr20	GH20I044169	44169425	44173652	0.72	[{'connected_gene': 'FITM2', 'score': 10.76}, {'connected_gene': 'OSER1', 'score': 7.75}, {'connected_gene': 'JPH2', 'score': 5.6}, {'connected_gene': 'GC20P044130', 'score': 0.26}]
chr20	GH20I044384	44384376	44385646	1.08	[{'connected_gene': 'FITM2', 'score': 11.33}, {'connected_gene': 'LINC01620', 'score': 10.55}, {'connected_gene': 'LINC01430', 'score': 10.55}, {'connected_gene': 'IFT52', 'score': 10.12}, {'connected_gene': 'OSER1-AS1', 'score': 7.45}, {'connected_gene': 'OSER1', 'score': 4.77}, {'connected_gene': 'ENSG00000233376', 'score': 0.44}, {'connected_gene': 'HNF4A-AS1', 'score': 0.39}, {'connected_gene': 'LOC105372629', 'score': 0.31}, {'connected_gene': 'HNF4A', 'score': 0.31}]
chr20	GH20I044578	44578538	44588463	2.37	[{'connected_gene': 'PKIG', 'score': 555.56}, {'connected_gene': 'TTPAL', 'score': 5.31}, {'connected_gene': 'OSER1', 'score': 1.25}, {'connected_gene': 'PIR61280', 'score': 0.28}, {'connected_gene': 'GC20M044554', 'score': 0.21}]
chr20	GH20I044350	44350562	44358613	1.66	[{'connected_gene': 'LOC105372629', 'score': 561.32}, {'connected_gene': 'GC20P044356', 'score': 550.77}, {'connected_gene': 'HNF4A', 'score': 550.77}, {'connected_gene': 'SRSF6', 'score': 57.31}, {'connected_gene': 'L3MBTL1', 'score': 12.78}, {'connected_gene': 'IFT52', 'score': 10.3}, {'connected_gene': 'OSER1', 'score': 7.84}, {'connected_gene': 'OSER1-AS1', 'score': 5.95}, {'connected_gene': 'MYBL2', 'score': 4.53}, {'connected_gene': 'ENSG00000201363', 'score': 0.44}, {'connected_gene': 'R3HDML', 'score': 0.37}]
chr20	GH20I044324	44324308	44324773	0.43	[{'connected_gene': 'LOC105372629', 'score': 12.18}, {'connected_gene': 'HNF4A', 'score': 12.18}, {'connected_gene': 'OSER1', 'score': 11.07}, {'connected_gene': 'FITM2', 'score': 0.39}, {'connected_gene': 'R3HDML', 'score': 0.39}]
chr20	GH20I044199	44199683	44200715	0.38	[{'connected_gene': 'OSER1-AS1', 'score': 5.44}, {'connected_gene': 'JPH2', 'score': 0.39}, {'connected_gene': 'OSER1', 'score': 0.39}]
chr20	GH20I044223	44223414	44224759	0.51	[{'connected_gene': 'OSER1-AS1', 'score': 7.21}, {'connected_gene': 'OSER1', 'score': 6.25}, {'connected_gene': 'GDAP1L1', 'score': 0.34}]
chr20	GH20I044640	44640672	44653201	2.57	[{'connected_gene': 'ADA', 'score': 561.63}, {'connected_gene': 'GC20M044554', 'score': 550.77}, {'connected_gene': 'GDAP1L1', 'score': 13.68}, {'connected_gene': 'KCNK15', 'score': 11.65}, {'connected_gene': 'PKIG', 'score': 11.25}, {'connected_gene': 'WISP2', 'score': 10.66}, {'connected_gene': 'SYS1', 'score': 9.78}, {'connected_gene': 'ENSG00000132832', 'score': 9.01}, {'connected_gene': 'OSER1', 'score': 3.0}, {'connected_gene': 'STK4', 'score': 1.7}, {'connected_gene': 'GC20P044636', 'score': 0.39}]
chr20	GH20I043656	43656299	43659059	1.63	[{'connected_gene': 'GC20P043655', 'score': 550.77}, {'connected_gene': 'IFT52', 'score': 28.09}, {'connected_gene': 'MYBL2', 'score': 18.22}, {'connected_gene': 'OSER1', 'score': 18.07}, {'connected_gene': 'SRSF6', 'score': 13.2}, {'connected_gene': 'SGK2', 'score': 10.26}, {'connected_gene': 'L3MBTL1', 'score': 2.82}, {'connected_gene': 'GC20M043632', 'score': 0.26}]
chr20	GH20I044493	44493549	44498361	1.25	[{'connected_gene': 'GC20P044495', 'score': 550.77}, {'connected_gene': 'PIR46342', 'score': 550.77}, {'connected_gene': 'PKIG', 'score': 17.51}, {'connected_gene': 'TTPAL', 'score': 17.4}, {'connected_gene': 'SERINC3', 'score': 13.18}, {'connected_gene': 'RPL37AP1', 'score': 12.54}, {'connected_gene': 'LINC01620', 'score': 11.14}, {'connected_gene': 'LINC01430', 'score': 11.14}, {'connected_gene': 'OSER1', 'score': 1.56}, {'connected_gene': 'ADA', 'score': 1.48}, {'connected_gene': 'STK4', 'score': 1.22}, {'connected_gene': 'PIR60204', 'score': 0.77}, {'connected_gene': 'GC20P044491', 'score': 0.77}, {'connected_gene': 'GC20P044473', 'score': 0.34}]