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
ENST00000409280	[[25174315, 25176412], [25181859, 25181951], [25182258, 25182433], [25191214, 25191303], [25194629, 25194811], [25198119, 25198149], [25200807, 25200879], [25207907, 25208084], [25218793, 25218951], [25219688, 25219973]]	[[25175590, 25176412], [25181859, 25181951], [25182258, 25182433], [25191214, 25191303], [25194629, 25194811], [25198119, 25198149], [25200807, 25200879], [25207907, 25208084], [25218793, 25218927]]
ENST00000283905	[[25175353, 25176412], [25181859, 25181951], [25182258, 25182433], [25191214, 25191303], [25194629, 25194811], [25198119, 25198149], [25200807, 25200879], [25207907, 25208084], [25218793, 25218951], [25219280, 25219919]]	[[25175590, 25176412], [25181859, 25181951], [25182258, 25182433], [25191214, 25191303], [25194629, 25194811], [25198119, 25198149], [25200807, 25200879], [25207907, 25208084], [25218793, 25218927]]
ENST00000443822	[[25194763, 25194811], [25198119, 25198149], [25200807, 25200879], [25207907, 25208084], [25218793, 25219021]]	[[25194763, 25194811], [25198119, 25198149], [25200807, 25200879], [25207907, 25208084], [25218793, 25218927]]
ENST00000415598	[[25200843, 25200879], [25207907, 25208084], [25218793, 25218951], [25219589, 25219975]]	[[25200843, 25200879], [25207907, 25208084], [25218793, 25218927]]
ENST00000444434	[[25207940, 25208084], [25218793, 25218951], [25219280, 25219419], [25219589, 25219667]]	[[25207940, 25208084], [25218793, 25218927]]
NM_138811	[[25174315, 25176412], [25181859, 25181951], [25182258, 25182433], [25191214, 25191303], [25194629, 25194811], [25198119, 25198149], [25200807, 25200879], [25207907, 25208084], [25218793, 25218951], [25219280, 25219817]]	[[25175590, 25176412], [25181859, 25181951], [25182258, 25182433], [25191214, 25191303], [25194629, 25194811], [25198119, 25198149], [25200807, 25200879], [25207907, 25208084], [25218793, 25218927]]

Promoter

Chrom	Start	End	Description
chr7	25219700	25219741	CAGE_peak_2_at_C7orf31_5end
chr7	25219897	25220004	CAGE_peak_1_at_C7orf31_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr7	GH07I025195	25195512	25197381	0.76	[{'connected_gene': 'NPVF', 'score': 10.64}, {'connected_gene': 'C7orf31', 'score': 5.0}, {'connected_gene': 'LOC105375191', 'score': 0.39}, {'connected_gene': 'RPL7AP41', 'score': 0.37}]
chr7	GH07I025149	25149462	25150168	0.46	[{'connected_gene': 'CYCS', 'score': 10.22}, {'connected_gene': 'OSBPL3', 'score': 4.91}, {'connected_gene': 'PIR38469', 'score': 0.39}, {'connected_gene': 'PIR55615', 'score': 0.31}, {'connected_gene': 'C7orf31', 'score': 0.29}]
chr7	GH07I025123	25123761	25127856	2.09	[{'connected_gene': 'CYCS', 'score': 559.49}, {'connected_gene': 'GSDME', 'score': 9.61}, {'connected_gene': 'OSBPL3', 'score': 4.87}, {'connected_gene': 'PIR56122', 'score': 0.44}, {'connected_gene': 'C7orf31', 'score': 0.23}]
chr7	GH07I025845	25845460	25859595	1.8	[{'connected_gene': 'HNRNPA2B1', 'score': 27.68}, {'connected_gene': 'C7orf31', 'score': 21.64}, {'connected_gene': 'LOC646588', 'score': 15.33}, {'connected_gene': 'TSEN15P3', 'score': 10.51}, {'connected_gene': 'ENSG00000202233', 'score': 10.51}, {'connected_gene': 'C7orf71', 'score': 9.33}, {'connected_gene': 'LOC100506236', 'score': 0.44}, {'connected_gene': 'GC07M025774', 'score': 0.19}]
chr7	GH07I024819	24819842	24823524	1.73	[{'connected_gene': 'OSBPL3', 'score': 21.87}, {'connected_gene': 'GSDME', 'score': 9.11}, {'connected_gene': 'C7orf31', 'score': 2.58}, {'connected_gene': 'SNRPCP19', 'score': 0.18}]
chr7	GH07I024824	24824297	24835071	1.57	[{'connected_gene': 'OSBPL3', 'score': 22.32}, {'connected_gene': 'GSDME', 'score': 6.09}, {'connected_gene': 'C7orf31', 'score': 1.7}, {'connected_gene': 'SNRPCP19', 'score': 0.18}]
chr7	GH07I024962	24962543	24963846	1.44	[{'connected_gene': 'OSBPL3', 'score': 1.85}, {'connected_gene': 'C7orf31', 'score': 1.25}, {'connected_gene': 'SNRPCP19', 'score': 0.22}]
chr7	GH07I024778	24778073	24780145	1.4	[{'connected_gene': 'GSDME', 'score': 8.31}, {'connected_gene': 'MPP6', 'score': 7.46}, {'connected_gene': 'C7orf31', 'score': 1.17}, {'connected_gene': 'SNRPCP19', 'score': 0.13}]
chr7	GH07I024753	24753879	24758606	2.38	[{'connected_gene': 'GSDME', 'score': 578.83}, {'connected_gene': 'MPP6', 'score': 14.78}, {'connected_gene': 'C7orf31', 'score': 1.32}, {'connected_gene': 'PIR41431', 'score': 0.26}]
chr7	GH07I024788	24788019	24790287	0.93	[{'connected_gene': 'GSDME', 'score': 31.34}, {'connected_gene': 'C7orf31', 'score': 1.25}, {'connected_gene': 'SNRPCP19', 'score': 0.13}]
chr7	GH07I024783	24783761	24784035	0.3	[{'connected_gene': 'GSDME', 'score': 19.52}, {'connected_gene': 'C7orf31', 'score': 1.51}, {'connected_gene': 'SNRPCP19', 'score': 0.13}]
chr7	GH07I024786	24786186	24787893	1.23	[{'connected_gene': 'GSDME', 'score': 16.27}, {'connected_gene': 'C7orf31', 'score': 1.73}, {'connected_gene': 'SNRPCP19', 'score': 0.13}]
chr7	GH07I024794	24794401	24794600	0.82	[{'connected_gene': 'C7orf31', 'score': 11.4}, {'connected_gene': 'GSDME', 'score': 5.77}, {'connected_gene': 'MPP6', 'score': 4.85}, {'connected_gene': 'SNRPCP19', 'score': 0.14}]
chr7	GH07I025568	25568291	25569119	0.91	[{'connected_gene': 'C7orf31', 'score': 11.4}, {'connected_gene': 'TSEN15P3', 'score': 10.69}, {'connected_gene': 'ENSG00000202233', 'score': 10.69}, {'connected_gene': 'ENSG00000227386', 'score': 0.37}, {'connected_gene': 'GC07P025596', 'score': 0.31}]
chr7	GH07I025179	25179519	25181011	1.86	[{'connected_gene': 'GC07M025179', 'score': 550.77}, {'connected_gene': 'C7orf31', 'score': 550.77}, {'connected_gene': 'OSBPL3', 'score': 4.81}, {'connected_gene': 'PIR55615', 'score': 0.77}]