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
ENST00000216129	[[43562627, 43564165], [43564779, 43564918], [43565505, 43565574], [43567824, 43567906], [43568408, 43568560], [43569720, 43569832], [43570214, 43570409], [43570504, 43570621], [43572325, 43572402], [43575624, 43575758], [43575846, 43576006], [43576747, 43576946], [43578985, 43579155], [43582898, 43583139]]	[[43564013, 43564165], [43564779, 43564918], [43565505, 43565574], [43567824, 43567906], [43568408, 43568560], [43569720, 43569832], [43570214, 43570409], [43570504, 43570621], [43572325, 43572402], [43575624, 43575758], [43575846, 43576006], [43576747, 43576946], [43578985, 43579155], [43582898, 43583075]]
ENST00000484711	[[43562628, 43564165], [43564779, 43564918], [43565505, 43566280]]	None
ENST00000494035	[[43563608, 43564165], [43564779, 43564918], [43565505, 43565574], [43567633, 43567756]]	[[43564013, 43564165], [43564779, 43564825]]
ENST00000484118	[[43570298, 43570409], [43570504, 43570621], [43571276, 43571684]]	None
NM_015140	[[43562627, 43564165], [43564779, 43564918], [43565505, 43565574], [43567824, 43567906], [43568408, 43568560], [43569720, 43569832], [43570214, 43570409], [43570504, 43570621], [43572325, 43572402], [43575624, 43575758], [43575846, 43576006], [43576747, 43576946], [43578985, 43579155], [43582898, 43583137]]	[[43564013, 43564165], [43564779, 43564918], [43565505, 43565574], [43567824, 43567906], [43568408, 43568560], [43569720, 43569832], [43570214, 43570409], [43570504, 43570621], [43572325, 43572402], [43575624, 43575758], [43575846, 43576006], [43576747, 43576946], [43578985, 43579155], [43582898, 43583075]]

Promoter

Chrom	Start	End	Description
chr22	43567750	43567759	CAGE_peak_6_at_TTLL12_5end
chr22	43583079	43583153	CAGE_peak_1_at_TTLL12_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I043163	43163094	43164540	0.89	[{'connected_gene': 'TSPO', 'score': 21.21}, {'connected_gene': 'MCAT', 'score': 13.21}, {'connected_gene': 'TTLL12', 'score': 0.34}]
chr22	GH22I043168	43168204	43169169	0.4	[{'connected_gene': 'TSPO', 'score': 13.15}, {'connected_gene': 'MCAT', 'score': 12.5}, {'connected_gene': 'TTLL12', 'score': 0.37}]
chr22	GH22I043154	43154921	43156457	1.08	[{'connected_gene': 'TSPO', 'score': 34.41}, {'connected_gene': 'ARFGAP3', 'score': 12.3}, {'connected_gene': 'PACSIN2', 'score': 1.23}, {'connected_gene': 'TTLL12', 'score': 0.29}]
chr22	GH22I043145	43145075	43149223	1.09	[{'connected_gene': 'TSPO', 'score': 21.6}, {'connected_gene': 'TTLL12', 'score': 4.99}, {'connected_gene': 'MCAT', 'score': 0.77}]
chr22	GH22I043159	43159375	43160680	0.79	[{'connected_gene': 'TSPO', 'score': 17.76}, {'connected_gene': 'TTLL12', 'score': 0.31}]
chr22	GH22I043171	43171104	43172173	0.51	[{'connected_gene': 'TSPO', 'score': 12.86}, {'connected_gene': 'TTLL12', 'score': 0.37}]
chr22	GH22I043173	43173471	43176669	0.38	[{'connected_gene': 'TSPO', 'score': 17.9}, {'connected_gene': 'TTLL12', 'score': 13.61}]
chr22	GH22I043160	43159135	43159194	0.7	[{'connected_gene': 'TSPO', 'score': 559.34}, {'connected_gene': 'TTLL12', 'score': 0.31}]
chr22	GH22I043150	43150780	43154156	2.04	[{'connected_gene': 'TSPO', 'score': 585.01}, {'connected_gene': 'TTLL12', 'score': 0.29}]
chr22	GH22I043156	43156615	43157615	0.52	[{'connected_gene': 'TSPO', 'score': 7.24}, {'connected_gene': 'TTLL12', 'score': 0.29}]
chr22	GH22I043121	43121113	43124663	0.49	[{'connected_gene': 'BIK', 'score': 9.15}, {'connected_gene': 'MCAT', 'score': 8.62}, {'connected_gene': 'TTLL12', 'score': 7.82}, {'connected_gene': 'TSPO', 'score': 7.5}]
chr22	GH22I043142	43142400	43144229	2.23	[{'connected_gene': 'MCAT', 'score': 557.22}, {'connected_gene': 'LOC100506679', 'score': 11.91}, {'connected_gene': 'RRP7BP', 'score': 11.06}, {'connected_gene': 'TTLL1', 'score': 10.65}, {'connected_gene': 'BIK', 'score': 9.13}, {'connected_gene': 'TSPO', 'score': 7.85}, {'connected_gene': 'TTLL12', 'score': 4.83}]
chr22	GH22I043185	43185496	43188519	2.26	[{'connected_gene': 'TTLL12', 'score': 583.38}, {'connected_gene': 'TSPO', 'score': 0.28}]
chr22	GH22I043122	43119315	43119464	0.77	[{'connected_gene': 'TTLL12', 'score': 5.13}, {'connected_gene': 'BIK', 'score': 0.44}, {'connected_gene': 'MCAT', 'score': 0.34}]
chr22	GH22I043266	43266035	43268315	0.31	[{'connected_gene': 'TTLL12', 'score': 5.36}, {'connected_gene': 'MCAT', 'score': 4.59}, {'connected_gene': 'GC22M043260', 'score': 0.77}, {'connected_gene': 'LOC101927447', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.18}]
chr22	GH22I043202	43202535	43204057	0.46	[{'connected_gene': 'TTLL12', 'score': 11.66}, {'connected_gene': 'GC22M043198', 'score': 0.77}, {'connected_gene': 'LOC105373052', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.11}]
chr22	GH22I043205	43205573	43206564	0.6	[{'connected_gene': 'TTLL12', 'score': 11.34}, {'connected_gene': 'LOC105373052', 'score': 0.77}, {'connected_gene': 'GC22M043198', 'score': 0.44}, {'connected_gene': 'SCUBE1', 'score': 0.12}]
chr22	GH22I043227	43227383	43227666	0.2	[{'connected_gene': 'TTLL12', 'score': 13.4}, {'connected_gene': 'ENSG00000234892', 'score': 0.77}, {'connected_gene': 'LOC105373051', 'score': 0.39}, {'connected_gene': 'SCUBE1', 'score': 0.13}]
chr22	GH22I043182	43182567	43185080	1.31	[{'connected_gene': 'TTLL12', 'score': 27.03}, {'connected_gene': 'LOC105373051', 'score': 12.04}, {'connected_gene': 'MCAT', 'score': 11.96}, {'connected_gene': 'TSPO', 'score': 0.29}]
chr22	GH22I043197	43196575	43196724	0.57	[{'connected_gene': 'TTLL12', 'score': 21.95}, {'connected_gene': 'LOC105373051', 'score': 4.68}, {'connected_gene': 'GC22M043198', 'score': 0.77}]
chr22	GH22I043226	43226305	43227294	0.58	[{'connected_gene': 'TTLL12', 'score': 12.77}, {'connected_gene': 'LOC101927447', 'score': 10.81}, {'connected_gene': 'SCUBE1', 'score': 10.69}, {'connected_gene': 'MCAT', 'score': 10.3}, {'connected_gene': 'MPPED1', 'score': 10.24}, {'connected_gene': 'ENSG00000234892', 'score': 0.44}, {'connected_gene': 'LOC105373051', 'score': 0.39}]
chr22	GH22I043188	43188746	43189246	0.2	[{'connected_gene': 'TTLL12', 'score': 550.77}, {'connected_gene': 'GC22M043198', 'score': 0.39}]
chr22	GH22I043125	43125734	43130275	1.32	[{'connected_gene': 'RN7SKP80', 'score': 22.02}, {'connected_gene': 'RPL5P34', 'score': 19.55}, {'connected_gene': 'POLDIP3', 'score': 14.84}, {'connected_gene': 'BIK', 'score': 10.02}, {'connected_gene': 'MCAT', 'score': 8.4}, {'connected_gene': 'TTLL12', 'score': 6.99}]
chr22	GH22I043240	43240715	43241470	1.26	[{'connected_gene': 'LOC101927447', 'score': 12.03}, {'connected_gene': 'SCUBE1', 'score': 11.88}, {'connected_gene': 'TTLL12', 'score': 7.21}, {'connected_gene': 'TTLL1', 'score': 4.59}, {'connected_gene': 'ENSG00000234892', 'score': 0.44}, {'connected_gene': 'GC22P043247', 'score': 0.44}]
chr22	GH22I043234	43234821	43238189	0.87	[{'connected_gene': 'LOC101927447', 'score': 11.6}, {'connected_gene': 'SCUBE1', 'score': 11.47}, {'connected_gene': 'ENSG00000234892', 'score': 6.98}, {'connected_gene': 'TTLL12', 'score': 6.37}, {'connected_gene': 'GC22P043247', 'score': 0.39}]
chr22	GH22I043242	43242546	43249857	0.54	[{'connected_gene': 'GC22P043247', 'score': 550.77}, {'connected_gene': 'RRP7BP', 'score': 12.81}, {'connected_gene': 'LOC101927447', 'score': 12.05}, {'connected_gene': 'SCUBE1', 'score': 11.89}, {'connected_gene': 'POLDIP3', 'score': 10.66}, {'connected_gene': 'RN7SKP80', 'score': 10.18}, {'connected_gene': 'TTLL12', 'score': 7.64}, {'connected_gene': 'GC22M043246', 'score': 0.77}, {'connected_gene': 'ENSG00000234892', 'score': 0.39}]
chr22	GH22I043232	43231649	43233103	0.62	[{'connected_gene': 'ENSG00000234892', 'score': 550.77}, {'connected_gene': 'TTLL12', 'score': 6.83}, {'connected_gene': 'GC22P043247', 'score': 0.39}, {'connected_gene': 'SCUBE1', 'score': 0.14}]
chr22	GH22I043196	43196875	43198608	0.38	[{'connected_gene': 'GC22M043198', 'score': 550.77}, {'connected_gene': 'TTLL12', 'score': 19.33}, {'connected_gene': 'LOC105373051', 'score': 4.71}, {'connected_gene': 'SCUBE1', 'score': 0.11}]
chr22	GH22I043259	43259929	43265667	1.66	[{'connected_gene': 'GC22M043260', 'score': 550.77}, {'connected_gene': 'TTLL12', 'score': 5.45}, {'connected_gene': 'LOC101927447', 'score': 0.39}, {'connected_gene': 'SCUBE1', 'score': 0.18}]