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
ENST00000369478	[[117297006, 117297175], [117297252, 117297573], [117303023, 117303254], [117307105, 117307228], [117311085, 117311850]]	[[117297114, 117297175], [117297252, 117297573], [117303023, 117303254], [117307105, 117307228], [117311085, 117311405]]
ENST00000369477	[[117297088, 117297175], [117297252, 117297643]]	[[117297114, 117297175], [117297252, 117297593]]
NM_001767	[[117297051, 117297175], [117297252, 117297573], [117303023, 117303254], [117307105, 117307228], [117311085, 117311851]]	[[117297114, 117297175], [117297252, 117297573], [117303023, 117303254], [117307105, 117307228], [117311085, 117311405]]
NM_001328609	[[117297051, 117297175], [117297252, 117297573], [117303023, 117303254], [117307027, 117307228], [117311085, 117311851]]	[[117297114, 117297175], [117297252, 117297573], [117303023, 117303254], [117307027, 117307228], [117311085, 117311405]]

Promoter

Chrom	Start	End	Description
chr1	117297044	117297099	CAGE_peak_1_at_CD2_5end
chr1	117307142	117307156	CAGE_peak_3_at_CD2_5end
chr1	117307157	117307178	CAGE_peak_2_at_CD2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I116885	116885886	116887620	0.83	[{'connected_gene': 'CD101', 'score': 18.45}, {'connected_gene': 'PTGFRN', 'score': 11.59}, {'connected_gene': 'CD2', 'score': 10.45}, {'connected_gene': 'C1orf137', 'score': 9.41}, {'connected_gene': 'LOC105378927', 'score': 0.77}, {'connected_gene': 'ENSG00000272715', 'score': 0.34}]
chr1	GH01I116913	116913671	116918033	1.12	[{'connected_gene': 'CD2', 'score': 9.85}, {'connected_gene': 'CD101', 'score': 4.57}, {'connected_gene': 'PTGFRN', 'score': 0.44}, {'connected_gene': 'PIR48772', 'score': 0.26}]
chr1	GH01I116777	116777551	116778729	1.14	[{'connected_gene': 'CD2', 'score': 11.97}, {'connected_gene': 'CD101', 'score': 10.21}, {'connected_gene': 'C1orf137', 'score': 10.03}, {'connected_gene': 'FTH1P22', 'score': 0.77}, {'connected_gene': 'LOC105378927', 'score': 0.15}]
chr1	GH01I116926	116926673	116932030	0.76	[{'connected_gene': 'CD2', 'score': 10.15}, {'connected_gene': 'CD101', 'score': 10.05}, {'connected_gene': 'IGSF3', 'score': 9.75}, {'connected_gene': 'C1orf137', 'score': 9.47}, {'connected_gene': 'PTGFRN', 'score': 0.37}, {'connected_gene': 'PIR48772', 'score': 0.31}]
chr1	GH01I116791	116791391	116792428	0.57	[{'connected_gene': 'CD2', 'score': 11.57}, {'connected_gene': 'CD101', 'score': 9.84}, {'connected_gene': 'FTH1P22', 'score': 0.37}, {'connected_gene': 'LOC105378927', 'score': 0.16}]
chr1	GH01I116803	116803428	116810885	1.44	[{'connected_gene': 'CD2', 'score': 14.67}, {'connected_gene': 'CD101', 'score': 9.96}, {'connected_gene': 'FTH1P22', 'score': 0.29}, {'connected_gene': 'LOC105378927', 'score': 0.18}]
chr1	GH01I116815	116815663	116817063	1.15	[{'connected_gene': 'CD2', 'score': 3.73}, {'connected_gene': 'TTF2', 'score': 2.21}, {'connected_gene': 'FTH1P22', 'score': 0.26}, {'connected_gene': 'LOC105378927', 'score': 0.2}]
chr1	GH01I116752	116752924	116773029	2.16	[{'connected_gene': 'CD2', 'score': 557.88}, {'connected_gene': 'ATP1A1', 'score': 2.82}, {'connected_gene': 'TTF2', 'score': 1.93}, {'connected_gene': 'FTH1P22', 'score': 0.39}]
chr1	GH01I116724	116724859	116724988	0.63	[{'connected_gene': 'CD2', 'score': 11.5}, {'connected_gene': 'C1orf137', 'score': 11.06}, {'connected_gene': 'IGSF3', 'score': 10.56}, {'connected_gene': 'MIR320B1', 'score': 10.33}, {'connected_gene': 'GAPDHP64', 'score': 0.39}, {'connected_gene': 'GC01M116740', 'score': 0.37}]
chr1	GH01I116697	116697574	116697985	0.43	[{'connected_gene': 'CD2', 'score': 9.89}, {'connected_gene': 'C1orf137', 'score': 0.77}, {'connected_gene': 'LOC105378926', 'score': 0.39}]
chr1	GH01I116750	116750925	116752117	0.6	[{'connected_gene': 'CD2', 'score': 0.77}, {'connected_gene': 'NEFHP1', 'score': 0.44}]
chr1	GH01I116788	116788945	116789778	0.2	[{'connected_gene': 'CD2', 'score': 11.7}, {'connected_gene': 'FTH1P22', 'score': 0.39}, {'connected_gene': 'LOC105378927', 'score': 0.16}]
chr1	GH01I116784	116784671	116785451	0.31	[{'connected_gene': 'CD2', 'score': 11.6}, {'connected_gene': 'FTH1P22', 'score': 0.44}, {'connected_gene': 'LOC105378927', 'score': 0.15}]
chr1	GH01I116811	116811365	116812835	0.66	[{'connected_gene': 'CD2', 'score': 12.01}, {'connected_gene': 'FTH1P22', 'score': 0.28}, {'connected_gene': 'LOC105378927', 'score': 0.19}]
chr1	GH01I116429	116429353	116430948	0.75	[{'connected_gene': 'ATP1A1-AS1', 'score': 11.74}, {'connected_gene': 'CD2', 'score': 10.4}, {'connected_gene': 'ENSG00000230381', 'score': 0.77}, {'connected_gene': 'LINC01762', 'score': 0.25}]
chr1	GH01I116823	116823744	116828652	1.47	[{'connected_gene': 'ATP1A1-AS1', 'score': 27.63}, {'connected_gene': 'MAN1A2', 'score': 22.81}, {'connected_gene': 'IGSF3', 'score': 10.74}, {'connected_gene': 'CD2', 'score': 10.72}, {'connected_gene': 'PTGFRN', 'score': 10.63}, {'connected_gene': 'MIR320B1', 'score': 9.84}, {'connected_gene': 'FTH1P22', 'score': 0.23}, {'connected_gene': 'LOC105378927', 'score': 0.22}]
chr1	GH01I116736	116736774	116741337	1.53	[{'connected_gene': 'TTF2', 'score': 12.79}, {'connected_gene': 'LOC101929099', 'score': 11.2}, {'connected_gene': 'CD101', 'score': 9.08}, {'connected_gene': 'IGSF3', 'score': 4.71}, {'connected_gene': 'ATP1A1', 'score': 4.34}, {'connected_gene': 'CD2', 'score': 4.17}, {'connected_gene': 'NEFHP1', 'score': 0.77}, {'connected_gene': 'GC01M116740', 'score': 0.77}, {'connected_gene': 'GAPDHP64', 'score': 0.34}]
chr1	GH01I116859	116859652	116860577	0.2	[{'connected_gene': 'PTGFRN', 'score': 11.95}, {'connected_gene': 'CD2', 'score': 10.65}, {'connected_gene': 'IGSF3', 'score': 10.4}, {'connected_gene': 'CD101', 'score': 10.02}, {'connected_gene': 'MIR320B1', 'score': 9.86}, {'connected_gene': 'LOC105378927', 'score': 0.34}, {'connected_gene': 'FTH1P22', 'score': 0.18}]
chr1	GH01I116852	116852173	116857206	1.38	[{'connected_gene': 'PTGFRN', 'score': 11.93}, {'connected_gene': 'CD2', 'score': 10.65}, {'connected_gene': 'MIR320B1', 'score': 9.86}, {'connected_gene': 'IGSF3', 'score': 9.86}, {'connected_gene': 'CD101', 'score': 8.35}, {'connected_gene': 'LOC105378927', 'score': 0.31}, {'connected_gene': 'FTH1P22', 'score': 0.18}]
chr1	GH01I116858	116858655	116859423	0.69	[{'connected_gene': 'PTGFRN', 'score': 11.94}, {'connected_gene': 'CD2', 'score': 10.65}, {'connected_gene': 'MIR320B1', 'score': 9.86}, {'connected_gene': 'IGSF3', 'score': 9.86}, {'connected_gene': 'LOC105378927', 'score': 0.34}, {'connected_gene': 'FTH1P22', 'score': 0.18}]
chr1	GH01I116908	116908968	116912555	2.17	[{'connected_gene': 'PTGFRN', 'score': 550.77}, {'connected_gene': 'ENSG00000272715', 'score': 550.77}, {'connected_gene': 'MAN1A2', 'score': 11.54}, {'connected_gene': 'CD2', 'score': 9.86}, {'connected_gene': 'PIR48772', 'score': 0.25}]
chr1	GH01I116721	116721877	116723208	0.69	[{'connected_gene': 'C1orf137', 'score': 11.23}, {'connected_gene': 'TTF2', 'score': 11.08}, {'connected_gene': 'LOC101929099', 'score': 11.08}, {'connected_gene': 'CD2', 'score': 10.86}, {'connected_gene': 'IGSF3', 'score': 10.82}, {'connected_gene': 'MIR320B1', 'score': 10.82}, {'connected_gene': 'CD101', 'score': 9.97}, {'connected_gene': 'GAPDHP64', 'score': 0.44}, {'connected_gene': 'GC01M116740', 'score': 0.34}]
chr1	GH01I116693	116693439	116695225	0.89	[{'connected_gene': 'C1orf137', 'score': 550.77}, {'connected_gene': 'IGSF3', 'score': 22.17}, {'connected_gene': 'MIR320B1', 'score': 11.32}, {'connected_gene': 'CD2', 'score': 10.25}, {'connected_gene': 'LOC105378926', 'score': 0.37}]
chr1	GH01I116696	116696230	116697463	1.04	[{'connected_gene': 'IGSF3', 'score': 11.3}, {'connected_gene': 'MIR320B1', 'score': 11.3}, {'connected_gene': 'CD2', 'score': 10.26}, {'connected_gene': 'C1orf137', 'score': 0.77}, {'connected_gene': 'LOC105378926', 'score': 0.39}]
chr1	GH01I116877	116877161	116880253	1.54	[{'connected_gene': 'MAN1A2', 'score': 41.25}, {'connected_gene': 'ATP1A1-AS1', 'score': 39.48}, {'connected_gene': 'PTGFRN', 'score': 11.39}, {'connected_gene': 'CD2', 'score': 10.77}, {'connected_gene': 'CD101', 'score': 10.29}, {'connected_gene': 'TRIM45', 'score': 9.97}, {'connected_gene': 'TTF2', 'score': 1.63}, {'connected_gene': 'LOC105378927', 'score': 0.77}, {'connected_gene': 'FTH1P22', 'score': 0.15}]
chr1	GH01I117050	117050820	117052623	0.87	[{'connected_gene': 'PIR49222', 'score': 550.77}, {'connected_gene': 'CD101', 'score': 10.55}, {'connected_gene': 'CD2', 'score': 10.49}, {'connected_gene': 'CD58', 'score': 10.15}, {'connected_gene': 'TRIM45', 'score': 9.96}, {'connected_gene': 'C1orf137', 'score': 9.62}, {'connected_gene': 'LOC101929099', 'score': 0.44}]
chr1	GH01I116555	116555002	116561307	1.71	[{'connected_gene': 'GC01P116556', 'score': 550.77}, {'connected_gene': 'MIR548AC', 'score': 550.77}, {'connected_gene': 'CD58', 'score': 14.84}, {'connected_gene': 'ATP1A1', 'score': 14.54}, {'connected_gene': 'CD2', 'score': 11.08}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.34}, {'connected_gene': 'CD101', 'score': 3.68}]