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
ENST00000256652	[[117544381, 117544482], [117552471, 117552852], [117554171, 117554588], [117556027, 117556414], [117559711, 117560095], [117560777, 117561182], [117564194, 117564605], [117568130, 117568526], [117576481, 117576756], [117578777, 117579167]]	[[117544439, 117544482], [117552471, 117552852], [117554171, 117554588], [117556027, 117556414], [117559711, 117560095], [117560777, 117561182], [117564194, 117564605], [117568130, 117568526], [117576481, 117576723]]
ENST00000369470	[[117544433, 117544482], [117552471, 117552852], [117554171, 117554588], [117556027, 117556414], [117559711, 117560095], [117560777, 117561182], [117564194, 117564605], [117568130, 117568526], [117576481, 117576756], [117578820, 117579039]]	[[117544439, 117544482], [117552471, 117552852], [117554171, 117554588], [117556027, 117556414], [117559711, 117560095], [117560777, 117561182], [117564194, 117564605], [117568130, 117568526], [117576481, 117576723]]
ENST00000467588	[[117575565, 117575789], [117576481, 117576756], [117578789, 117578978]]	None
ENST00000460180	[[117576668, 117576756], [117578777, 117579098]]	None
NM_001256111	[[117544371, 117544482], [117552471, 117552852], [117554357, 117554588], [117556027, 117556414], [117559711, 117560095], [117560777, 117561182], [117564194, 117564605], [117568130, 117568526], [117576481, 117576756], [117578820, 117579173]]	[[117544439, 117544482], [117552471, 117552852], [117554357, 117554588], [117556027, 117556414], [117559711, 117560095], [117560777, 117561182], [117564194, 117564605], [117568130, 117568526], [117576481, 117576723]]
NM_001256109	[[117544371, 117544482], [117552471, 117552852], [117554171, 117554588], [117556027, 117556414], [117559711, 117560095], [117560777, 117561182], [117564194, 117564605], [117568130, 117568526], [117576481, 117576756], [117578820, 117579173]]	[[117544439, 117544482], [117552471, 117552852], [117554171, 117554588], [117556027, 117556414], [117559711, 117560095], [117560777, 117561182], [117564194, 117564605], [117568130, 117568526], [117576481, 117576723]]
NM_001256106	[[117544371, 117544482], [117552471, 117552852], [117554171, 117554588], [117556027, 117556414], [117559711, 117560095], [117560777, 117561182], [117564194, 117564605], [117568130, 117568526], [117576481, 117576756], [117578789, 117579173]]	[[117544439, 117544482], [117552471, 117552852], [117554171, 117554588], [117556027, 117556414], [117559711, 117560095], [117560777, 117561182], [117564194, 117564605], [117568130, 117568526], [117576481, 117576723]]
NM_004258	[[117544371, 117544482], [117552471, 117552852], [117554171, 117554588], [117556027, 117556414], [117559711, 117560095], [117560777, 117561182], [117564194, 117564605], [117568130, 117568526], [117576481, 117576756], [117578777, 117579173]]	[[117544439, 117544482], [117552471, 117552852], [117554171, 117554588], [117556027, 117556414], [117559711, 117560095], [117560777, 117561182], [117564194, 117564605], [117568130, 117568526], [117576481, 117576723]]

Promoter

Chrom	Start	End	Description
chr1	117544366	117544411	CAGE_peak_1_at_CD101_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr1	GH01I116539	116539918	116540870	1.19	[{'connected_gene': 'CD58', 'score': 25.97}, {'connected_gene': 'CD101', 'score': 6.47}, {'connected_gene': 'ATP1A1', 'score': 4.34}, {'connected_gene': 'LOC105378925', 'score': 0.77}, {'connected_gene': 'NAP1L4P1', 'score': 0.44}]
chr1	GH01I116502	116502296	116506799	1.73	[{'connected_gene': 'CD58', 'score': 20.17}, {'connected_gene': 'CD101', 'score': 6.22}, {'connected_gene': 'ATP1A1', 'score': 5.55}, {'connected_gene': 'ENSG00000224950', 'score': 5.24}, {'connected_gene': 'GC01P116509', 'score': 0.77}]
chr1	GH01I116537	116536281	116539755	1.55	[{'connected_gene': 'CD58', 'score': 28.28}, {'connected_gene': 'NAP1L4P1', 'score': 7.73}, {'connected_gene': 'CD101', 'score': 5.16}, {'connected_gene': 'ATP1A1', 'score': 4.24}, {'connected_gene': 'LOC105378925', 'score': 0.44}]
chr1	GH01I116569	116569182	116572275	2.54	[{'connected_gene': 'CD58', 'score': 559.08}, {'connected_gene': 'MAN1A2', 'score': 11.52}, {'connected_gene': 'TRIM45', 'score': 9.93}, {'connected_gene': 'ATP1A1-AS1', 'score': 5.58}, {'connected_gene': 'ATP1A1', 'score': 4.84}, {'connected_gene': 'IGSF3', 'score': 4.41}, {'connected_gene': 'CD101', 'score': 3.64}, {'connected_gene': 'TTF2', 'score': 1.71}, {'connected_gene': 'MIR548AC', 'score': 0.39}]
chr1	GH01I116986	116986405	116992086	1.42	[{'connected_gene': 'CD101', 'score': 18.75}, {'connected_gene': 'PTGFRN', 'score': 8.79}, {'connected_gene': 'CD58', 'score': 5.79}, {'connected_gene': 'RNA5SP55', 'score': 0.31}]
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	GH01I117000	117000242	117004600	1.64	[{'connected_gene': 'CD101', 'score': 565.79}, {'connected_gene': 'PTGFRN', 'score': 9.06}, {'connected_gene': 'PIR49222', 'score': 0.25}]
chr1	GH01I116918	116918533	116922162	1.25	[{'connected_gene': 'CD101', 'score': 6.45}, {'connected_gene': 'PTGFRN', 'score': 0.39}, {'connected_gene': 'PIR48772', 'score': 0.28}]
chr1	GH01I116896	116896091	116896151	0.22	[{'connected_gene': 'CD101', 'score': 9.93}, {'connected_gene': 'IGSF3', 'score': 9.65}, {'connected_gene': 'MIR320B1', 'score': 9.55}, {'connected_gene': 'ENSG00000272715', 'score': 0.39}, {'connected_gene': 'LOC105378927', 'score': 0.39}]
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	GH01I116457	116457342	116459141	0.31	[{'connected_gene': 'ATP1A1-AS1', 'score': 16.48}, {'connected_gene': 'CD101', 'score': 4.58}, {'connected_gene': 'ENSG00000200547', 'score': 0.44}, {'connected_gene': 'LINC01762', 'score': 0.34}]
chr1	GH01I116460	116460665	116461642	0.43	[{'connected_gene': 'ATP1A1-AS1', 'score': 10.7}, {'connected_gene': 'CD101', 'score': 4.59}, {'connected_gene': 'ENSG00000200547', 'score': 0.44}, {'connected_gene': 'LINC01762', 'score': 0.37}]
chr1	GH01I117076	117076404	117078223	0.98	[{'connected_gene': 'TTF2', 'score': 12.8}, {'connected_gene': 'TRIM45', 'score': 11.09}, {'connected_gene': 'CD101', 'score': 3.4}, {'connected_gene': 'MIR942', 'score': 0.37}]
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	GH01I117058	117058483	117062843	2.07	[{'connected_gene': 'TTF2', 'score': 577.42}, {'connected_gene': 'LOC101929099', 'score': 556.39}, {'connected_gene': 'WDR3', 'score': 36.07}, {'connected_gene': 'GDAP2', 'score': 26.56}, {'connected_gene': 'MAN1A2', 'score': 11.41}, {'connected_gene': 'ATP1A1-AS1', 'score': 10.46}, {'connected_gene': 'CD101', 'score': 4.92}, {'connected_gene': 'MIR942', 'score': 0.29}]
chr1	GH01I116949	116949482	116952476	0.64	[{'connected_gene': 'PTGFRN', 'score': 11.19}, {'connected_gene': 'CD101', 'score': 10.56}, {'connected_gene': 'C1orf137', 'score': 10.01}, {'connected_gene': 'PIR48772', 'score': 0.44}]
chr1	GH01I116997	116997159	116997308	0.4	[{'connected_gene': 'PTGFRN', 'score': 6.65}, {'connected_gene': 'CD101', 'score': 0.77}, {'connected_gene': 'RNA5SP55', 'score': 0.29}]
chr1	GH01I117007	117007140	117008017	1.04	[{'connected_gene': 'PTGFRN', 'score': 18.92}, {'connected_gene': 'CD101', 'score': 7.77}, {'connected_gene': 'PIR49222', 'score': 0.26}]
chr1	GH01I117008	117008739	117010113	0.71	[{'connected_gene': 'PTGFRN', 'score': 10.94}, {'connected_gene': 'CD101', 'score': 6.16}, {'connected_gene': 'PIR49222', 'score': 0.26}]
chr1	GH01I117017	117017819	117017968	0.46	[{'connected_gene': 'PTGFRN', 'score': 8.54}, {'connected_gene': 'CD101', 'score': 0.37}, {'connected_gene': 'PIR49222', 'score': 0.29}]
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	GH01I116981	116981164	116984191	0.92	[{'connected_gene': 'PTGFRN', 'score': 8.52}, {'connected_gene': 'TTF2', 'score': 5.34}, {'connected_gene': 'CD101', 'score': 0.37}, {'connected_gene': 'RNA5SP55', 'score': 0.34}]
chr1	GH01I116947	116947043	116948706	0.52	[{'connected_gene': 'PTGFRN', 'score': 11.13}, {'connected_gene': 'C1orf137', 'score': 10.01}, {'connected_gene': 'CD101', 'score': 4.47}, {'connected_gene': 'PIR48772', 'score': 0.39}]
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	GH01I116587	116587801	116588400	0.79	[{'connected_gene': 'IGSF3', 'score': 10.88}, {'connected_gene': 'MIR320B1', 'score': 10.88}, {'connected_gene': 'CD58', 'score': 9.91}, {'connected_gene': 'CD101', 'score': 5.92}, {'connected_gene': 'ATP1A1', 'score': 4.43}, {'connected_gene': 'LOC105378924', 'score': 0.77}]
chr1	GH01I116645	116645783	116649561	1	[{'connected_gene': 'IGSF3', 'score': 30.37}, {'connected_gene': 'MIR320B1', 'score': 12.26}, {'connected_gene': 'C1orf137', 'score': 10.87}, {'connected_gene': 'CD101', 'score': 4.96}, {'connected_gene': 'LOC105378924', 'score': 0.22}]
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	GH01I116880	116880576	116883037	1.42	[{'connected_gene': 'LOC105378927', 'score': 550.77}, {'connected_gene': 'PTGFRN', 'score': 13.04}, {'connected_gene': 'IGSF3', 'score': 10.65}, {'connected_gene': 'MIR320B1', 'score': 10.65}, {'connected_gene': 'CD101', 'score': 9.4}, {'connected_gene': 'FTH1P22', 'score': 0.14}]
chr1	GH01I116588	116588808	116591001	1.2	[{'connected_gene': 'LOC105378924', 'score': 550.77}, {'connected_gene': 'IGSF3', 'score': 10.88}, {'connected_gene': 'MIR320B1', 'score': 10.88}, {'connected_gene': 'CD58', 'score': 7.08}, {'connected_gene': 'ATP1A1', 'score': 3.26}, {'connected_gene': 'CD101', 'score': 2.69}]
chr1	GH01I116963	116963001	116963200	0.38	[{'connected_gene': 'RNA5SP55', 'score': 550.77}, {'connected_gene': 'CD101', 'score': 0.28}, {'connected_gene': 'PTGFRN', 'score': 0.23}]
chr1	GH01I116507	116507844	116511199	1.6	[{'connected_gene': 'GC01P116509', 'score': 550.77}, {'connected_gene': 'CD58', 'score': 22.77}, {'connected_gene': 'CD101', 'score': 6.72}, {'connected_gene': 'ATP1A1', 'score': 4.36}, {'connected_gene': 'NAP1L4P1', 'score': 0.34}]
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	GH01I117048	117048085	117050425	0.66	[{'connected_gene': 'PIR49222', 'score': 0.77}, {'connected_gene': 'LOC101929099', 'score': 0.39}, {'connected_gene': 'CD101', 'score': 0.25}]
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}]