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
ENST00000339235	[[1675158, 1675976], [1702038, 1703331]]	[[1675913, 1675976], [1702038, 1703232]]
ENST00000543278	[[1696526, 1696702], [1702080, 1702204]]	None
NM_152441	[[1675158, 1675976], [1702038, 1703331]]	[[1675913, 1675976], [1702038, 1703232]]

Promoter

Chrom	Start	End	Description
chr12	1702589	1702600	CAGE_peak_9_at_FBXL14_5end
chr12	1703346	1703377	CAGE_peak_4_at_FBXL14_5end
chr12	1703711	1703733	CAGE_peak_1_at_FBXL14_5end
chr12	1703735	1703759	CAGE_peak_3_at_FBXL14_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I001634	1634715	1634884	0.89	[{'connected_gene': 'CACNA2D4', 'score': 10.75}, {'connected_gene': 'ENSG00000256706', 'score': 10.75}, {'connected_gene': 'MIR3649', 'score': 0.31}, {'connected_gene': 'FBXL14', 'score': 0.26}, {'connected_gene': 'WNT5B', 'score': 0.15}]
chr12	GH12I001636	1634087	1634110	0.4	[{'connected_gene': 'CACNA2D4', 'score': 10.75}, {'connected_gene': 'ENSG00000256706', 'score': 10.75}, {'connected_gene': 'MIR3649', 'score': 0.31}, {'connected_gene': 'FBXL14', 'score': 0.28}, {'connected_gene': 'WNT5B', 'score': 0.15}]
chr12	GH12I001631	1631315	1631644	0.69	[{'connected_gene': 'CACNA2D4', 'score': 10.75}, {'connected_gene': 'ENSG00000256706', 'score': 10.75}, {'connected_gene': 'MIR3649', 'score': 0.31}, {'connected_gene': 'FBXL14', 'score': 0.28}, {'connected_gene': 'WNT5B', 'score': 0.15}]
chr12	GH12I001635	1635401	1636111	0.78	[{'connected_gene': 'CACNA2D4', 'score': 10.75}, {'connected_gene': 'ENSG00000256706', 'score': 10.75}, {'connected_gene': 'MIR3649', 'score': 0.34}, {'connected_gene': 'FBXL14', 'score': 0.26}, {'connected_gene': 'WNT5B', 'score': 0.14}]
chr12	GH12I001628	1628557	1630904	1.85	[{'connected_gene': 'WNT5B', 'score': 550.15}, {'connected_gene': 'ENSG00000256706', 'score': 10.75}, {'connected_gene': 'CACNA2D4', 'score': 10.74}, {'connected_gene': 'ENSG00000250132', 'score': 9.6}, {'connected_gene': 'RAD52', 'score': 9.6}, {'connected_gene': 'ERC1', 'score': 9.6}, {'connected_gene': 'LINC00940', 'score': 4.36}, {'connected_gene': 'MIR3649', 'score': 0.29}, {'connected_gene': 'FBXL14', 'score': 0.28}]
chr12	GH12I001608	1608098	1610750	1.46	[{'connected_gene': 'WNT5B', 'score': 10.94}, {'connected_gene': 'RAD52', 'score': 9.62}, {'connected_gene': 'ENSG00000250132', 'score': 9.62}, {'connected_gene': 'ERC1', 'score': 9.62}, {'connected_gene': 'ADIPOR2', 'score': 1.26}, {'connected_gene': 'FBXL14', 'score': 0.37}, {'connected_gene': 'MIR3649', 'score': 0.23}]
chr12	GH12I001588	1588788	1589234	0.56	[{'connected_gene': 'WNT5B', 'score': 11.81}, {'connected_gene': 'RAD52', 'score': 8.97}, {'connected_gene': 'ENSG00000250132', 'score': 8.97}, {'connected_gene': 'ERC1', 'score': 8.97}, {'connected_gene': 'GC12M001593', 'score': 0.77}, {'connected_gene': 'PIR54397', 'score': 0.77}, {'connected_gene': 'FBXL14', 'score': 0.44}, {'connected_gene': 'PIR54620', 'score': 0.31}]
chr12	GH12I001565	1565122	1566810	0.74	[{'connected_gene': 'WNT5B', 'score': 11.7}, {'connected_gene': 'ENSG00000250132', 'score': 9.97}, {'connected_gene': 'RAD52', 'score': 9.97}, {'connected_gene': 'ERC1', 'score': 9.97}, {'connected_gene': 'ENSG00000249028', 'score': 9.81}, {'connected_gene': 'PIR54620', 'score': 0.44}, {'connected_gene': 'PIR54397', 'score': 0.31}, {'connected_gene': 'GC12M001593', 'score': 0.31}, {'connected_gene': 'FBXL14', 'score': 0.31}]
chr12	GH12I001566	1566875	1567024	0.77	[{'connected_gene': 'WNT5B', 'score': 10.79}, {'connected_gene': 'RAD52', 'score': 9.97}, {'connected_gene': 'ENSG00000250132', 'score': 9.97}, {'connected_gene': 'ERC1', 'score': 9.97}, {'connected_gene': 'PIR54620', 'score': 0.44}, {'connected_gene': 'GC12M001593', 'score': 0.31}, {'connected_gene': 'PIR54397', 'score': 0.31}, {'connected_gene': 'FBXL14', 'score': 0.31}]
chr12	GH12I001590	1588178	1588337	0.74	[{'connected_gene': 'WNT5B', 'score': 11.68}, {'connected_gene': 'RAD52', 'score': 8.83}, {'connected_gene': 'ENSG00000250132', 'score': 8.83}, {'connected_gene': 'ERC1', 'score': 8.83}, {'connected_gene': 'GC12M001593', 'score': 0.77}, {'connected_gene': 'PIR54397', 'score': 0.77}, {'connected_gene': 'FBXL14', 'score': 0.44}, {'connected_gene': 'PIR54620', 'score': 0.31}]
chr12	GH12I001574	1574631	1577889	1.33	[{'connected_gene': 'WNT5B', 'score': 12.05}, {'connected_gene': 'DCP1B', 'score': 10.84}, {'connected_gene': 'ENSG00000249028', 'score': 10.44}, {'connected_gene': 'PIR54620', 'score': 0.37}, {'connected_gene': 'GC12M001593', 'score': 0.37}, {'connected_gene': 'PIR54397', 'score': 0.37}, {'connected_gene': 'FBXL14', 'score': 0.37}]
chr12	GH12I001603	1603475	1603624	0.63	[{'connected_gene': 'WNT5B', 'score': 10.89}, {'connected_gene': 'FBXL14', 'score': 0.44}, {'connected_gene': 'MIR3649', 'score': 0.22}]
chr12	GH12I001591	1589394	1589504	0.5	[{'connected_gene': 'WNT5B', 'score': 11.81}, {'connected_gene': 'FBXL14', 'score': 3.12}, {'connected_gene': 'GC12M001593', 'score': 0.77}, {'connected_gene': 'PIR54397', 'score': 0.77}, {'connected_gene': 'PIR54620', 'score': 0.31}]
chr12	GH12I001572	1572065	1573785	0.43	[{'connected_gene': 'WNT5B', 'score': 12.06}, {'connected_gene': 'ENSG00000249028', 'score': 10.15}, {'connected_gene': 'PIR54620', 'score': 0.39}, {'connected_gene': 'GC12M001593', 'score': 0.34}, {'connected_gene': 'PIR54397', 'score': 0.34}, {'connected_gene': 'FBXL14', 'score': 0.34}]
chr12	GH12I001652	1652915	1653064	0.86	[{'connected_gene': 'ADIPOR2', 'score': 11.86}, {'connected_gene': 'ENSG00000256706', 'score': 10.92}, {'connected_gene': 'CACNA2D4', 'score': 10.92}, {'connected_gene': 'MIR3649', 'score': 0.44}, {'connected_gene': 'FBXL14', 'score': 0.22}]
chr12	GH12I001653	1653198	1654218	0.56	[{'connected_gene': 'ADIPOR2', 'score': 11.88}, {'connected_gene': 'ENSG00000256706', 'score': 10.92}, {'connected_gene': 'CACNA2D4', 'score': 10.92}, {'connected_gene': 'MIR3649', 'score': 0.44}, {'connected_gene': 'FBXL14', 'score': 0.22}]
chr12	GH12I001649	1649299	1651744	0.95	[{'connected_gene': 'ADIPOR2', 'score': 11.86}, {'connected_gene': 'ENSG00000256706', 'score': 10.92}, {'connected_gene': 'CACNA2D4', 'score': 10.92}, {'connected_gene': 'MIR3649', 'score': 0.44}, {'connected_gene': 'FBXL14', 'score': 0.22}]
chr12	GH12I001659	1655135	1655842	0.2	[{'connected_gene': 'ADIPOR2', 'score': 11.42}, {'connected_gene': 'MIR3649', 'score': 0.77}, {'connected_gene': 'FBXL14', 'score': 0.21}]
chr12	GH12I001655	1655973	1656509	0.2	[{'connected_gene': 'ADIPOR2', 'score': 11.42}, {'connected_gene': 'MIR3649', 'score': 0.77}, {'connected_gene': 'FBXL14', 'score': 0.21}]
chr12	GH12I001656	1656688	1657373	0.49	[{'connected_gene': 'ADIPOR2', 'score': 11.89}, {'connected_gene': 'MIR3649', 'score': 0.77}, {'connected_gene': 'FBXL14', 'score': 0.21}]
chr12	GH12I001657	1657775	1657924	0.4	[{'connected_gene': 'ADIPOR2', 'score': 11.89}, {'connected_gene': 'MIR3649', 'score': 0.77}, {'connected_gene': 'FBXL14', 'score': 0.21}]
chr12	GH12I001562	1562276	1564708	0.67	[{'connected_gene': 'RAD52', 'score': 41.47}, {'connected_gene': 'DCP1B', 'score': 27.95}, {'connected_gene': 'ENSG00000250132', 'score': 19.65}, {'connected_gene': 'WNT5B', 'score': 11.71}, {'connected_gene': 'ERC1', 'score': 9.81}, {'connected_gene': 'ENSG00000249028', 'score': 9.81}, {'connected_gene': 'FBXL14', 'score': 5.86}, {'connected_gene': 'PIR54620', 'score': 0.77}, {'connected_gene': 'PIR54397', 'score': 0.31}, {'connected_gene': 'GC12M001593', 'score': 0.31}]
chr12	GH12I001604	1604397	1607182	1.51	[{'connected_gene': 'RAD52', 'score': 63.23}, {'connected_gene': 'DCP1B', 'score': 47.61}, {'connected_gene': 'ENSG00000250132', 'score': 24.58}, {'connected_gene': 'WNT5B', 'score': 10.94}, {'connected_gene': 'LINC00942', 'score': 9.86}, {'connected_gene': 'ERC1', 'score': 9.62}, {'connected_gene': 'FBXL14', 'score': 0.39}, {'connected_gene': 'MIR3649', 'score': 0.23}]
chr12	GH12I001625	1625455	1625624	0.2	[{'connected_gene': 'ERC1', 'score': 9.18}, {'connected_gene': 'RAD52', 'score': 9.18}, {'connected_gene': 'ENSG00000250132', 'score': 9.18}, {'connected_gene': 'MIR3649', 'score': 0.29}, {'connected_gene': 'FBXL14', 'score': 0.29}, {'connected_gene': 'WNT5B', 'score': 0.15}]
chr12	GH12I001616	1616401	1620000	1.22	[{'connected_gene': 'FBXL14', 'score': 12.92}, {'connected_gene': 'RAD52', 'score': 9.82}, {'connected_gene': 'ENSG00000250132', 'score': 9.82}, {'connected_gene': 'ERC1', 'score': 9.82}, {'connected_gene': 'MIR3649', 'score': 0.26}, {'connected_gene': 'WNT5B', 'score': 0.17}]
chr12	GH12I001601	1601100	1602665	1.16	[{'connected_gene': 'FBXL14', 'score': 0.44}, {'connected_gene': 'MIR3649', 'score': 0.22}, {'connected_gene': 'WNT5B', 'score': 0.19}]
chr12	GH12I001611	1611309	1612918	0.86	[{'connected_gene': 'FBXL14', 'score': 0.37}, {'connected_gene': 'MIR3649', 'score': 0.25}, {'connected_gene': 'WNT5B', 'score': 0.18}]
chr12	GH12I001992	1992780	1995963	1.57	[{'connected_gene': 'CBX3P4', 'score': 17.76}, {'connected_gene': 'ITFG2-AS1', 'score': 15.56}, {'connected_gene': 'LINC00942', 'score': 13.61}, {'connected_gene': 'TULP3', 'score': 12.59}, {'connected_gene': 'ITFG2', 'score': 12.5}, {'connected_gene': 'IQSEC3P1', 'score': 10.17}, {'connected_gene': 'DCP1B', 'score': 5.82}, {'connected_gene': 'FBXL14', 'score': 2.56}, {'connected_gene': 'GC12M001963', 'score': 0.44}, {'connected_gene': 'CACNA1C', 'score': 0.34}]
chr12	GH12I001643	1643996	1645567	0.58	[{'connected_gene': 'MIR3649', 'score': 0.37}, {'connected_gene': 'FBXL14', 'score': 0.23}, {'connected_gene': 'WNT5B', 'score': 0.14}]
chr12	GH12I001583	1583338	1583900	1.25	[{'connected_gene': 'ENSG00000250132', 'score': 10.39}, {'connected_gene': 'RAD52', 'score': 10.39}, {'connected_gene': 'ERC1', 'score': 10.39}, {'connected_gene': 'ENSG00000249028', 'score': 10.11}, {'connected_gene': 'PIR54397', 'score': 0.44}, {'connected_gene': 'GC12M001593', 'score': 0.44}, {'connected_gene': 'FBXL14', 'score': 0.39}, {'connected_gene': 'PIR54620', 'score': 0.34}, {'connected_gene': 'WNT5B', 'score': 0.23}]
chr12	GH12I001579	1579512	1580568	0.31	[{'connected_gene': 'ENSG00000250132', 'score': 10.39}, {'connected_gene': 'RAD52', 'score': 10.39}, {'connected_gene': 'ERC1', 'score': 10.39}, {'connected_gene': 'ENSG00000249028', 'score': 10.11}, {'connected_gene': 'PIR54397', 'score': 0.39}, {'connected_gene': 'GC12M001593', 'score': 0.39}, {'connected_gene': 'FBXL14', 'score': 0.39}, {'connected_gene': 'PIR54620', 'score': 0.37}, {'connected_gene': 'WNT5B', 'score': 0.23}]
chr12	GH12I001581	1581047	1583056	0.86	[{'connected_gene': 'ENSG00000250132', 'score': 10.39}, {'connected_gene': 'RAD52', 'score': 10.39}, {'connected_gene': 'ERC1', 'score': 10.39}, {'connected_gene': 'ENSG00000249028', 'score': 10.11}, {'connected_gene': 'PIR54397', 'score': 0.39}, {'connected_gene': 'GC12M001593', 'score': 0.39}, {'connected_gene': 'FBXL14', 'score': 0.39}, {'connected_gene': 'PIR54620', 'score': 0.34}, {'connected_gene': 'WNT5B', 'score': 0.23}]
chr12	GH12I001589	1589739	1597079	2.52	[{'connected_gene': 'GC12M001593', 'score': 550.77}, {'connected_gene': 'PIR54397', 'score': 550.77}, {'connected_gene': 'FBXL14', 'score': 550.77}, {'connected_gene': 'WNT5B', 'score': 11.8}, {'connected_gene': 'RAD52', 'score': 11.55}, {'connected_gene': 'DCP1B', 'score': 10.85}]