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
ENST00000329759	[[194406621, 194409762]]	[[194407555, 194408827]]
NM_153690	[[194406621, 194409766]]	[[194407555, 194408827]]

Promoter

Chrom	Start	End	Description
chr3	194406603	194406619	CAGE_peak_1_at_FAM43A_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I194675	194675201	194676075	0.7	[{'connected_gene': 'TMEM44', 'score': 5.18}, {'connected_gene': 'LSG1', 'score': 0.77}, {'connected_gene': 'FAM43A', 'score': 0.39}]
chr3	GH03I194670	194670982	194673378	2.1	[{'connected_gene': 'LSG1', 'score': 561.59}, {'connected_gene': 'SDHAP2', 'score': 16.72}, {'connected_gene': 'LINC00969', 'score': 12.77}, {'connected_gene': 'RNU6ATAC24P', 'score': 10.39}, {'connected_gene': 'FAM43A', 'score': 10.01}, {'connected_gene': 'ACAP2', 'score': 9.79}, {'connected_gene': 'PIR42376', 'score': 0.29}]
chr3	GH03I195115	195115925	195121872	1.56	[{'connected_gene': 'LSG1', 'score': 24.38}, {'connected_gene': 'SDHAP1', 'score': 21.82}, {'connected_gene': 'XXYLT1-AS2', 'score': 18.53}, {'connected_gene': 'LINC00969', 'score': 17.1}, {'connected_gene': 'SDHAP2', 'score': 15.54}, {'connected_gene': 'XXYLT1', 'score': 13.45}, {'connected_gene': 'RN7SL36P', 'score': 12.37}, {'connected_gene': 'XXYLT1-AS1', 'score': 11.88}, {'connected_gene': 'ACAP2', 'score': 10.98}, {'connected_gene': 'FAM43A', 'score': 7.64}, {'connected_gene': 'ATP13A3', 'score': 4.87}, {'connected_gene': 'MIR3137', 'score': 0.37}]
chr3	GH03I194682	194682098	194683475	1.16	[{'connected_gene': 'LSG1', 'score': 13.06}, {'connected_gene': 'FAM43A', 'score': 11.61}, {'connected_gene': 'XXYLT1-AS1', 'score': 10.04}, {'connected_gene': 'XXYLT1', 'score': 10.02}]
chr3	GH03I194069	194069143	194073309	1.77	[{'connected_gene': 'LINC02028', 'score': 556.11}, {'connected_gene': 'ENSG00000276407', 'score': 550.77}, {'connected_gene': 'LOC102724877', 'score': 550.77}, {'connected_gene': 'LSG1', 'score': 51.67}, {'connected_gene': 'ENSG00000272707', 'score': 18.36}, {'connected_gene': 'LRRC15', 'score': 15.96}, {'connected_gene': 'OPA1-AS1', 'score': 11.77}, {'connected_gene': 'ENSG00000232874', 'score': 11.67}, {'connected_gene': 'HES1', 'score': 11.66}, {'connected_gene': 'FAM43A', 'score': 10.02}, {'connected_gene': 'ENSG00000229334', 'score': 5.68}, {'connected_gene': 'ENSG00000229964', 'score': 0.34}]
chr3	GH03I194740	194740585	194742238	0.9	[{'connected_gene': 'LOC285303', 'score': 6.49}, {'connected_gene': 'FAM43A', 'score': 5.83}, {'connected_gene': 'XXYLT1', 'score': 4.9}, {'connected_gene': 'LINC01968', 'score': 0.29}]
chr3	GH03I195257	195257906	195261160	1.95	[{'connected_gene': 'SDHAP1', 'score': 17.15}, {'connected_gene': 'SDHAP2', 'score': 15.54}, {'connected_gene': 'RNU6ATAC24P', 'score': 12.7}, {'connected_gene': 'LSG1', 'score': 12.05}, {'connected_gene': 'LINC00969', 'score': 11.99}, {'connected_gene': 'FAM43A', 'score': 10.02}, {'connected_gene': 'XXYLT1', 'score': 6.62}, {'connected_gene': 'ACAP2', 'score': 6.14}, {'connected_gene': 'GC03P195246', 'score': 0.39}]
chr3	GH03I195138	195138909	195142574	1.37	[{'connected_gene': 'SDHAP1', 'score': 19.14}, {'connected_gene': 'LINC00969', 'score': 14.43}, {'connected_gene': 'SDHAP2', 'score': 14.01}, {'connected_gene': 'LSG1', 'score': 12.3}, {'connected_gene': 'XXYLT1', 'score': 11.36}, {'connected_gene': 'RNU6-25P', 'score': 10.94}, {'connected_gene': 'RNU6ATAC24P', 'score': 10.77}, {'connected_gene': 'XXYLT1-AS1', 'score': 10.37}, {'connected_gene': 'MIR570', 'score': 9.95}, {'connected_gene': 'FAM43A', 'score': 5.11}, {'connected_gene': 'MIR3137', 'score': 0.44}, {'connected_gene': 'RN7SL36P', 'score': 0.44}]
chr3	GH03I195426	195426201	195426400	0.8	[{'connected_gene': 'XXYLT1', 'score': 18.38}, {'connected_gene': 'SDHAP1', 'score': 17.15}, {'connected_gene': 'SDHAP2', 'score': 15.56}, {'connected_gene': 'RNU6ATAC24P', 'score': 12.79}, {'connected_gene': 'LSG1', 'score': 12.05}, {'connected_gene': 'LINC00969', 'score': 12.01}, {'connected_gene': 'FAM43A', 'score': 10.02}, {'connected_gene': 'GC03M195420', 'score': 0.44}, {'connected_gene': 'ENSG00000207368', 'score': 0.44}, {'connected_gene': 'ACAP2', 'score': 0.37}]
chr3	GH03I195146	195146878	195167203	2.28	[{'connected_gene': 'XXYLT1', 'score': 20.33}, {'connected_gene': 'SDHAP1', 'score': 19.14}, {'connected_gene': 'LINC00969', 'score': 14.43}, {'connected_gene': 'SDHAP2', 'score': 14.01}, {'connected_gene': 'RNU6-25P', 'score': 12.71}, {'connected_gene': 'FAM43A', 'score': 12.56}, {'connected_gene': 'LSG1', 'score': 12.3}, {'connected_gene': 'RNU6ATAC24P', 'score': 10.77}, {'connected_gene': 'MIR570', 'score': 9.95}, {'connected_gene': 'XXYLT1-AS2', 'score': 6.14}, {'connected_gene': 'LINC00884', 'score': 4.86}, {'connected_gene': 'LOC105374296', 'score': 0.44}, {'connected_gene': 'RN7SL36P', 'score': 0.39}, {'connected_gene': 'GC03P195215', 'score': 0.22}]
chr3	GH03I195128	195128749	195132306	1.33	[{'connected_gene': 'XXYLT1', 'score': 16.47}, {'connected_gene': 'XXYLT1-AS1', 'score': 11.33}, {'connected_gene': 'FAM43A', 'score': 5.99}, {'connected_gene': 'LSG1', 'score': 1.81}, {'connected_gene': 'PPP1R2', 'score': 1.17}, {'connected_gene': 'MIR3137', 'score': 0.77}]
chr3	GH03I195123	195123977	195125537	0.66	[{'connected_gene': 'XXYLT1', 'score': 16.74}, {'connected_gene': 'XXYLT1-AS1', 'score': 11.35}, {'connected_gene': 'FAM43A', 'score': 5.79}, {'connected_gene': 'MIR3137', 'score': 0.44}]
chr3	GH03I194685	194685180	194692544	2.23	[{'connected_gene': 'FAM43A', 'score': 563.37}, {'connected_gene': 'LSG1', 'score': 66.96}, {'connected_gene': 'GC03P194686', 'score': 0.77}, {'connected_gene': 'ENSG00000233987', 'score': 0.37}]
chr3	GH03I194840	194840797	194841536	0.96	[{'connected_gene': 'FAM43A', 'score': 1.41}, {'connected_gene': 'PIR41520', 'score': 0.44}, {'connected_gene': 'ENSG00000238031', 'score': 0.39}]
chr3	GH03I194111	194111053	194111549	0.38	[{'connected_gene': 'LOC105374288', 'score': 550.77}, {'connected_gene': 'LSG1', 'score': 12.05}, {'connected_gene': 'HES1', 'score': 12.01}, {'connected_gene': 'FAM43A', 'score': 10.02}, {'connected_gene': 'ENSG00000232874', 'score': 0.37}, {'connected_gene': 'LOC102724877', 'score': 0.26}]
chr3	GH03I195100	195100013	195107230	1.78	[{'connected_gene': 'XXYLT1-AS2', 'score': 16.34}, {'connected_gene': 'LRRC15', 'score': 12.44}, {'connected_gene': 'LSG1', 'score': 11.46}, {'connected_gene': 'RN7SL36P', 'score': 11.25}, {'connected_gene': 'FAM43A', 'score': 6.31}, {'connected_gene': 'PPP1R2', 'score': 3.37}, {'connected_gene': 'ACAP2', 'score': 2.65}, {'connected_gene': 'XXYLT1-AS1', 'score': 0.44}, {'connected_gene': 'MIR3137', 'score': 0.29}, {'connected_gene': 'XXYLT1', 'score': 0.1}]
chr3	GH03I195075	195075251	195077289	0.57	[{'connected_gene': 'XXYLT1-AS2', 'score': 10.85}, {'connected_gene': 'RN7SL36P', 'score': 10.85}, {'connected_gene': 'SDHAP1', 'score': 4.89}, {'connected_gene': 'FAM43A', 'score': 4.75}, {'connected_gene': 'LSG1', 'score': 4.74}, {'connected_gene': 'GP5', 'score': 4.47}, {'connected_gene': 'XXYLT1-AS1', 'score': 0.37}, {'connected_gene': 'PIR39689', 'score': 0.29}, {'connected_gene': 'XXYLT1', 'score': 0.08}]
chr3	GH03I195097	195097601	195098400	0.63	[{'connected_gene': 'XXYLT1-AS2', 'score': 11.02}, {'connected_gene': 'RN7SL36P', 'score': 11.02}, {'connected_gene': 'FAM43A', 'score': 4.98}, {'connected_gene': 'XXYLT1-AS1', 'score': 0.77}, {'connected_gene': 'MIR3137', 'score': 0.28}, {'connected_gene': 'XXYLT1', 'score': 0.09}]
chr3	GH03I195098	195098601	195100000	0.58	[{'connected_gene': 'XXYLT1-AS2', 'score': 16.27}, {'connected_gene': 'RN7SL36P', 'score': 11.02}, {'connected_gene': 'FAM43A', 'score': 4.9}, {'connected_gene': 'XXYLT1-AS1', 'score': 0.77}, {'connected_gene': 'MIR3137', 'score': 0.28}, {'connected_gene': 'XXYLT1', 'score': 0.09}]
chr3	GH03I195136	195136647	195138730	0.57	[{'connected_gene': 'XXYLT1-AS1', 'score': 10.91}, {'connected_gene': 'XXYLT1', 'score': 10.77}, {'connected_gene': 'FAM43A', 'score': 5.07}, {'connected_gene': 'MIR3137', 'score': 0.77}, {'connected_gene': 'RN7SL36P', 'score': 0.44}]
chr3	GH03I195132	195132761	195134826	0.96	[{'connected_gene': 'MIR3137', 'score': 550.77}, {'connected_gene': 'XXYLT1-AS1', 'score': 11.4}, {'connected_gene': 'XXYLT1', 'score': 11.24}, {'connected_gene': 'FAM43A', 'score': 6.24}]
chr3	GH03I194264	194264897	194272033	1.52	[{'connected_gene': 'ENSG00000232874', 'score': 12.1}, {'connected_gene': 'HES1', 'score': 12.1}, {'connected_gene': 'GP5', 'score': 10.22}, {'connected_gene': 'FAM43A', 'score': 3.3}, {'connected_gene': 'TMEM44', 'score': 1.59}, {'connected_gene': 'LINC02048', 'score': 0.44}, {'connected_gene': 'LINC02036', 'score': 0.37}]