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
ENST00000368986	[[108487261, 108487994], [108492661, 108492807], [108496039, 108496127], [108497706, 108497942], [108499298, 108499445], [108501526, 108501623], [108502010, 108502160], [108502749, 108502855], [108508504, 108510013]]	[[108487969, 108487994], [108492661, 108492807], [108496039, 108496127], [108497706, 108497942], [108499298, 108499445], [108501526, 108501623], [108502010, 108502160], [108502749, 108502855], [108508504, 108508667]]
ENST00000368983	[[108489226, 108489366], [108492661, 108492807], [108496039, 108496127], [108497706, 108497942], [108499298, 108499445], [108501526, 108501623], [108502010, 108502160], [108502749, 108502855], [108508504, 108510006]]	[[108489230, 108489366], [108492661, 108492807], [108496039, 108496127], [108497706, 108497942], [108499298, 108499445], [108501526, 108501623], [108502010, 108502160], [108502749, 108502855], [108508504, 108508667]]
ENST00000426403	[[108489966, 108490125], [108492661, 108492807], [108496039, 108496127], [108497706, 108497830]]	[[108496114, 108496127], [108497706, 108497830]]
ENST00000484978	[[108497307, 108497529], [108497706, 108497942], [108499298, 108499351]]	None
NM_003269	[[108487261, 108487994], [108492661, 108492807], [108496039, 108496127], [108497706, 108497942], [108499298, 108499445], [108501526, 108501623], [108502010, 108502160], [108502749, 108502855], [108508504, 108510013]]	[[108487969, 108487994], [108492661, 108492807], [108496039, 108496127], [108497706, 108497942], [108499298, 108499445], [108501526, 108501623], [108502010, 108502160], [108502749, 108502855], [108508504, 108508667]]
NM_001286102	[[108489226, 108489366], [108492661, 108492807], [108496039, 108496127], [108497706, 108497942], [108499298, 108499445], [108501526, 108501623], [108502010, 108502160], [108502749, 108502855], [108508504, 108510013]]	[[108489230, 108489366], [108492661, 108492807], [108496039, 108496127], [108497706, 108497942], [108499298, 108499445], [108501526, 108501623], [108502010, 108502160], [108502749, 108502855], [108508504, 108508667]]

Promoter

Chrom	Start	End	Description
chr6	108487220	108487236	CAGE_peak_2_at_NR2E1_5end
chr6	108487245	108487256	CAGE_peak_3_at_NR2E1_5end
chr6	108487289	108487302	CAGE_peak_1_at_NR2E1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I108310	108310621	108311871	0.31	[{'connected_gene': 'SNX3', 'score': 10.87}, {'connected_gene': 'OSTM1', 'score': 9.86}, {'connected_gene': 'NR2E1', 'score': 9.85}, {'connected_gene': 'AFG1L', 'score': 5.68}, {'connected_gene': 'RPL36AP24', 'score': 0.44}]
chr6	GH06I108301	108301175	108303498	0.4	[{'connected_gene': 'SNX3', 'score': 12.41}, {'connected_gene': 'OSTM1', 'score': 10.39}, {'connected_gene': 'NR2E1', 'score': 10.38}, {'connected_gene': 'SEC63', 'score': 9.25}, {'connected_gene': 'AFG1L', 'score': 5.21}, {'connected_gene': 'RPL36AP24', 'score': 0.37}]
chr6	GH06I108476	108476641	108477190	0.4	[{'connected_gene': 'SNX3', 'score': 10.2}, {'connected_gene': 'OSTM1', 'score': 9.81}, {'connected_gene': 'NR2E1', 'score': 9.81}, {'connected_gene': 'SEC63', 'score': 9.43}, {'connected_gene': 'GC06P108423', 'score': 0.23}, {'connected_gene': 'GC06P108424', 'score': 0.23}, {'connected_gene': 'ENSG00000271608', 'score': 0.19}, {'connected_gene': 'AFG1L', 'score': 0.09}]
chr6	GH06I108360	108360722	108362262	0.9	[{'connected_gene': 'SNX3', 'score': 10.95}, {'connected_gene': 'OSTM1', 'score': 10.48}, {'connected_gene': 'NR2E1', 'score': 10.48}, {'connected_gene': 'LOC100506224', 'score': 0.39}, {'connected_gene': 'ENSG00000238055', 'score': 0.26}, {'connected_gene': 'LOC105377932', 'score': 0.25}, {'connected_gene': 'AFG1L', 'score': 0.2}]
chr6	GH06I108311	108311901	108313918	0.8	[{'connected_gene': 'SNX3', 'score': 10.85}, {'connected_gene': 'OSTM1', 'score': 9.93}, {'connected_gene': 'NR2E1', 'score': 9.93}, {'connected_gene': 'RPL36AP24', 'score': 0.44}, {'connected_gene': 'AFG1L', 'score': 0.37}]
chr6	GH06I108541	108541801	108542469	1.26	[{'connected_gene': 'ARMC2', 'score': 10.83}, {'connected_gene': 'RNU6-653P', 'score': 10.32}, {'connected_gene': 'ARMC2-AS1', 'score': 9.6}, {'connected_gene': 'SEC63', 'score': 9.57}, {'connected_gene': 'OSTM1', 'score': 9.46}, {'connected_gene': 'NR2E1', 'score': 9.46}, {'connected_gene': 'ENSG00000271608', 'score': 0.44}, {'connected_gene': 'GC06P108423', 'score': 0.13}, {'connected_gene': 'GC06P108424', 'score': 0.13}]
chr6	GH06I108117	108117466	108119081	0.96	[{'connected_gene': 'NR2E1', 'score': 12.58}, {'connected_gene': 'OSTM1', 'score': 12.55}, {'connected_gene': 'SEC63', 'score': 9.48}, {'connected_gene': 'OSTM1-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000238490', 'score': 0.22}]
chr6	GH06I108133	108133393	108134876	1.12	[{'connected_gene': 'NR2E1', 'score': 12.62}, {'connected_gene': 'OSTM1', 'score': 12.57}, {'connected_gene': 'SEC63', 'score': 9.83}, {'connected_gene': 'GC06M108139', 'score': 0.44}, {'connected_gene': 'OSTM1-AS1', 'score': 0.39}]
chr6	GH06I108113	108113500	108117248	1.4	[{'connected_gene': 'NR2E1', 'score': 11.68}, {'connected_gene': 'OSTM1', 'score': 11.65}, {'connected_gene': 'OSTM1-AS1', 'score': 0.44}, {'connected_gene': 'ENSG00000238490', 'score': 0.23}]
chr6	GH06I108106	108106377	108106442	0.31	[{'connected_gene': 'NR2E1', 'score': 11.46}, {'connected_gene': 'OSTM1', 'score': 11.45}, {'connected_gene': 'OSTM1-AS1', 'score': 0.37}, {'connected_gene': 'ENSG00000238490', 'score': 0.25}]
chr6	GH06I108127	108127937	108128106	0.92	[{'connected_gene': 'NR2E1', 'score': 12.61}, {'connected_gene': 'OSTM1', 'score': 12.59}, {'connected_gene': 'OSTM1-AS1', 'score': 0.77}, {'connected_gene': 'GC06M108139', 'score': 0.37}]
chr6	GH06I108203	108203060	108203853	0.59	[{'connected_gene': 'OSTM1', 'score': 11.91}, {'connected_gene': 'NR2E1', 'score': 11.88}, {'connected_gene': 'SNX3', 'score': 11.57}, {'connected_gene': 'ENSG00000279398', 'score': 0.34}, {'connected_gene': 'ENSG00000233511', 'score': 0.25}]
chr6	GH06I108348	108348216	108352281	0.95	[{'connected_gene': 'OSTM1', 'score': 10.25}, {'connected_gene': 'NR2E1', 'score': 10.25}, {'connected_gene': 'LOC100506224', 'score': 0.34}, {'connected_gene': 'ENSG00000238055', 'score': 0.29}, {'connected_gene': 'AFG1L', 'score': 0.22}]
chr6	GH06I108167	108167457	108167486	0.31	[{'connected_gene': 'OSTM1', 'score': 550.77}, {'connected_gene': 'NR2E1', 'score': 0.44}, {'connected_gene': 'ENSG00000279398', 'score': 0.39}]
chr6	GH06I108166	108166042	108166101	1.04	[{'connected_gene': 'OSTM1', 'score': 550.77}, {'connected_gene': 'NR2E1', 'score': 550.44}, {'connected_gene': 'ENSG00000279398', 'score': 0.39}]
chr6	GH06I108545	108545703	108547764	0.43	[{'connected_gene': 'RNU6-653P', 'score': 10.54}, {'connected_gene': 'NR2E1', 'score': 9.53}, {'connected_gene': 'OSTM1', 'score': 9.53}, {'connected_gene': 'SEC63', 'score': 9.26}, {'connected_gene': 'ENSG00000271608', 'score': 0.77}, {'connected_gene': 'GC06P108423', 'score': 0.13}, {'connected_gene': 'GC06P108424', 'score': 0.13}]
chr6	GH06I108544	108544643	108545385	0.2	[{'connected_gene': 'RNU6-653P', 'score': 10.54}, {'connected_gene': 'NR2E1', 'score': 9.53}, {'connected_gene': 'OSTM1', 'score': 9.53}, {'connected_gene': 'ENSG00000271608', 'score': 0.44}, {'connected_gene': 'GC06P108423', 'score': 0.13}, {'connected_gene': 'GC06P108424', 'score': 0.13}]
chr6	GH06I108180	108180279	108180695	0.51	[{'connected_gene': 'ENSG00000279398', 'score': 550.77}, {'connected_gene': 'NR2E1', 'score': 0.34}, {'connected_gene': 'ENSG00000233511', 'score': 0.19}]
chr6	GH06I108009	108009673	108010590	0.31	[{'connected_gene': 'PIR60649', 'score': 550.77}, {'connected_gene': 'SEC63', 'score': 11.0}, {'connected_gene': 'NR2E1', 'score': 10.2}, {'connected_gene': 'OSTM1', 'score': 10.19}, {'connected_gene': 'LOC105377929', 'score': 5.3}, {'connected_gene': 'GC06P108038', 'score': 0.31}]