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
ENST00000246868	[[66452663, 66453486], [66456123, 66456288], [66458203, 66458404], [66459198, 66459328], [66460276, 66460588]]	[[66453357, 66453486], [66456123, 66456288], [66458203, 66458404], [66459198, 66459328], [66460276, 66460404]]
ENST00000414306	[[66452730, 66453486], [66456123, 66456288], [66458203, 66458404], [66459206, 66459328], [66460276, 66460563]]	[[66458393, 66458404], [66459206, 66459328], [66460276, 66460404]]
ENST00000490953	[[66456047, 66456288], [66458203, 66458404], [66459206, 66459328], [66460276, 66460553]]	None
ENST00000463579	[[66456123, 66456288], [66458203, 66458404], [66459206, 66459353]]	None
NM_016038	[[66452689, 66453486], [66456123, 66456288], [66458203, 66458404], [66459198, 66459328], [66460276, 66460588]]	[[66453357, 66453486], [66456123, 66456288], [66458203, 66458404], [66459198, 66459328], [66460276, 66460404]]

Promoter

Chrom	Start	End	Description
chr7	66460563	66460605	CAGE_peak_1_at_SBDS_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I113439	113439676	113439805	0.66	[{'connected_gene': 'RBM19', 'score': 14.35}, {'connected_gene': 'TPCN1', 'score': 11.04}, {'connected_gene': 'SDS', 'score': 0.39}, {'connected_gene': 'LHX5-AS1', 'score': 0.29}]
chr12	GH12I113463	113463496	113463605	0.46	[{'connected_gene': 'RBM19', 'score': 14.32}, {'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr7	GH07I067022	67022694	67022723	0.2	[{'connected_gene': 'STAG3L4', 'score': 10.97}, {'connected_gene': 'TYW1', 'score': 0.31}, {'connected_gene': 'SBDS', 'score': 0.31}, {'connected_gene': 'ENSG00000233383', 'score': 0.2}]
chr7	GH07I067035	67035681	67037398	0.69	[{'connected_gene': 'STAG3L4', 'score': 11.26}, {'connected_gene': 'TYW1', 'score': 10.56}, {'connected_gene': 'LOC100996437', 'score': 4.25}, {'connected_gene': 'SBDS', 'score': 0.26}, {'connected_gene': 'ENSG00000233383', 'score': 0.23}]
chr7	GH07I067024	67024819	67026423	0.6	[{'connected_gene': 'STAG3L4', 'score': 11.05}, {'connected_gene': 'PMS2P4', 'score': 7.3}, {'connected_gene': 'TYW1', 'score': 0.29}, {'connected_gene': 'SBDS', 'score': 0.29}, {'connected_gene': 'ENSG00000233383', 'score': 0.21}]
chr7	GH07I066993	66993555	66998001	2.28	[{'connected_gene': 'TYW1', 'score': 557.07}, {'connected_gene': 'SBDS', 'score': 550.77}, {'connected_gene': 'ENSG00000229180', 'score': 42.95}, {'connected_gene': 'LOC100420547', 'score': 32.31}, {'connected_gene': 'ENSG00000244657', 'score': 28.96}, {'connected_gene': 'SPDYE21P', 'score': 23.78}, {'connected_gene': 'TMEM248', 'score': 23.17}, {'connected_gene': 'RABGEF1', 'score': 14.66}, {'connected_gene': 'ENSG00000230189', 'score': 11.56}, {'connected_gene': 'STAG3L4', 'score': 11.24}, {'connected_gene': 'PMS2P4', 'score': 9.84}, {'connected_gene': 'GTF2IP9', 'score': 9.66}, {'connected_gene': 'LOC644794', 'score': 7.01}, {'connected_gene': 'LOC100996437', 'score': 6.27}, {'connected_gene': 'LINC00174', 'score': 4.32}, {'connected_gene': 'ENSG00000233383', 'score': 0.16}]
chr7	GH07I067066	67066527	67067668	0.4	[{'connected_gene': 'TYW1', 'score': 21.93}, {'connected_gene': 'ENSG00000233383', 'score': 0.34}, {'connected_gene': 'SBDS', 'score': 0.19}]
chr7	GH07I067019	67019465	67020228	0.79	[{'connected_gene': 'TYW1', 'score': 28.63}, {'connected_gene': 'LOC100420547', 'score': 20.14}, {'connected_gene': 'ENSG00000229180', 'score': 16.86}, {'connected_gene': 'ENSG00000273448', 'score': 12.56}, {'connected_gene': 'TMEM248', 'score': 12.32}, {'connected_gene': 'SBDS', 'score': 0.34}, {'connected_gene': 'ENSG00000233383', 'score': 0.2}]
chr12	GH12I113403	113403601	113404600	1.43	[{'connected_gene': 'SDS', 'score': 550.34}, {'connected_gene': 'SDSL', 'score': 18.47}, {'connected_gene': 'PLBD2', 'score': 11.23}, {'connected_gene': 'LHX5', 'score': 10.0}, {'connected_gene': 'LOC105369989', 'score': 0.26}]
chr12	GH12I113425	113425174	113426446	1.01	[{'connected_gene': 'SDS', 'score': 550.77}, {'connected_gene': 'SDSL', 'score': 18.5}]
chr7	GH07I067041	67041401	67041801	0.71	[{'connected_gene': 'RABGEF1', 'score': 13.32}, {'connected_gene': 'TYW1', 'score': 11.29}, {'connected_gene': 'STAG3L4', 'score': 4.58}, {'connected_gene': 'SBDS', 'score': 0.25}, {'connected_gene': 'ENSG00000233383', 'score': 0.25}]
chr12	GH12I113356	113356590	113360621	2.24	[{'connected_gene': 'PLBD2', 'score': 579.24}, {'connected_gene': 'SLC8B1', 'score': 558.54}, {'connected_gene': 'RBM19', 'score': 26.3}, {'connected_gene': 'SDSL', 'score': 20.86}, {'connected_gene': 'RITA1', 'score': 10.66}, {'connected_gene': 'DDX54', 'score': 10.66}, {'connected_gene': 'ENSG00000201208', 'score': 10.65}, {'connected_gene': 'RPL6', 'score': 10.13}, {'connected_gene': 'SDS', 'score': 1.43}, {'connected_gene': 'LOC105369989', 'score': 0.77}]
chr12	GH12I113407	113407925	113408400	0.62	[{'connected_gene': 'PLBD2', 'score': 10.87}, {'connected_gene': 'LHX5', 'score': 10.41}, {'connected_gene': 'SDSL', 'score': 0.39}, {'connected_gene': 'SDS', 'score': 0.37}, {'connected_gene': 'LOC105369989', 'score': 0.25}]
chr12	GH12I113415	113415696	113416871	1.06	[{'connected_gene': 'SDSL', 'score': 20.24}, {'connected_gene': 'RBM19', 'score': 18.45}, {'connected_gene': 'RPL6', 'score': 10.12}, {'connected_gene': 'SDS', 'score': 0.39}, {'connected_gene': 'LOC105369989', 'score': 0.22}]
chr12	GH12I113421	113421256	113423684	2.03	[{'connected_gene': 'SDSL', 'score': 569.81}, {'connected_gene': 'RBM19', 'score': 29.37}, {'connected_gene': 'PLBD2', 'score': 10.92}, {'connected_gene': 'SLC8B1', 'score': 10.38}, {'connected_gene': 'SDS', 'score': 0.77}]
chr12	GH12I113141	113141449	113143564	1.14	[{'connected_gene': 'SDSL', 'score': 20.77}, {'connected_gene': 'RASAL1', 'score': 13.64}, {'connected_gene': 'SLC8B1', 'score': 9.17}, {'connected_gene': 'CFAP73', 'score': 5.07}, {'connected_gene': 'OAS2', 'score': 3.74}, {'connected_gene': 'OAS3', 'score': 3.47}, {'connected_gene': 'OAS1', 'score': 3.11}, {'connected_gene': 'SDS', 'score': 1.42}]
chr12	GH12I113417	113417937	113418888	1.32	[{'connected_gene': 'SDSL', 'score': 31.31}, {'connected_gene': 'PLBD2', 'score': 10.94}, {'connected_gene': 'SLC8B1', 'score': 9.69}, {'connected_gene': 'SDS', 'score': 1.9}, {'connected_gene': 'OAS2', 'score': 1.56}, {'connected_gene': 'OAS3', 'score': 1.42}, {'connected_gene': 'LOC105369989', 'score': 0.22}]
chr12	GH12I113420	113420583	113420708	0.34	[{'connected_gene': 'SDSL', 'score': 574.74}, {'connected_gene': 'PLBD2', 'score': 10.92}, {'connected_gene': 'SLC8B1', 'score': 4.39}, {'connected_gene': 'SDS', 'score': 0.44}, {'connected_gene': 'LOC105369989', 'score': 0.22}]
chr12	GH12I113393	113393136	113393285	0.76	[{'connected_gene': 'SDSL', 'score': 11.38}, {'connected_gene': 'LOC105369989', 'score': 0.29}, {'connected_gene': 'SDS', 'score': 0.29}]
chr12	GH12I113465	113465276	113465425	0.49	[{'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr12	GH12I113471	113471836	113471985	0.46	[{'connected_gene': 'LHX5-AS1', 'score': 550.77}, {'connected_gene': 'LHX5', 'score': 550.77}, {'connected_gene': 'SDS', 'score': 0.25}]
chr12	GH12I113466	113466276	113466305	0.31	[{'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr12	GH12I113467	113467836	113467925	0.6	[{'connected_gene': 'LHX5-AS1', 'score': 0.77}, {'connected_gene': 'LHX5', 'score': 0.77}, {'connected_gene': 'SDS', 'score': 0.26}]
chr12	GH12I113468	113464516	113464645	0.38	[{'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr12	GH12I113470	113470936	113471085	0.43	[{'connected_gene': 'LHX5-AS1', 'score': 550.77}, {'connected_gene': 'LHX5', 'score': 550.77}, {'connected_gene': 'SDS', 'score': 0.26}]
chr12	GH12I113469	113468496	113468525	0.43	[{'connected_gene': 'LHX5-AS1', 'score': 0.77}, {'connected_gene': 'LHX5', 'score': 0.77}, {'connected_gene': 'SDS', 'score': 0.26}]
chr12	GH12I113464	113464856	113464985	0.43	[{'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr12	GH12I113462	113462476	113462625	0.78	[{'connected_gene': 'LHX5-AS1', 'score': 0.44}, {'connected_gene': 'LHX5', 'score': 0.44}, {'connected_gene': 'SDS', 'score': 0.28}]
chr7	GH07I067042	67042285	67044025	1.08	[{'connected_gene': 'LINC01372', 'score': 7.08}, {'connected_gene': 'TYW1', 'score': 0.25}, {'connected_gene': 'SBDS', 'score': 0.25}, {'connected_gene': 'ENSG00000233383', 'score': 0.25}]
chr12	GH12I113270	113270881	113273195	1.51	[{'connected_gene': 'GC12M113256', 'score': 550.77}, {'connected_gene': 'SDSL', 'score': 19.16}, {'connected_gene': 'RASAL1', 'score': 13.23}, {'connected_gene': 'RITA1', 'score': 11.9}, {'connected_gene': 'SLC8B1', 'score': 10.88}, {'connected_gene': 'RBM19', 'score': 9.7}, {'connected_gene': 'OAS2', 'score': 3.59}, {'connected_gene': 'OAS3', 'score': 3.12}, {'connected_gene': 'OAS1', 'score': 2.39}, {'connected_gene': 'PLBD2', 'score': 1.53}, {'connected_gene': 'SDS', 'score': 1.28}, {'connected_gene': 'GC12P113288', 'score': 0.37}, {'connected_gene': 'TPCN1', 'score': 0.23}]