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
ENST00000307116	[[74766974, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776653], [74790024, 74790128], [74804738, 74804809], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834673], [74856523, 74856608]]	[[74767979, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776653], [74790024, 74790128], [74804738, 74804809], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834641]]
ENST00000373008	[[74766974, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776653], [74790024, 74790128], [74803644, 74803715], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834673], [74856523, 74856608]]	[[74767979, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776653], [74790024, 74790128], [74803644, 74803715], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834641]]
ENST00000263556	[[74766981, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776657], [74790028, 74790128], [74803644, 74803715], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834673], [74856523, 74856732]]	[[74767979, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776657], [74790028, 74790128], [74803644, 74803715], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834641]]
ENST00000412021	[[74766981, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776657], [74790028, 74790128], [74804738, 74804809], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834673], [74837478, 74837571], [74856523, 74856732]]	[[74767979, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776657], [74790028, 74790128], [74804738, 74804809], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834641]]
ENST00000440381	[[74766981, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74790028, 74790128], [74803644, 74803715], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834673], [74856523, 74856732]]	[[74767979, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74790028, 74790128], [74803644, 74803715], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834641]]
ENST00000394890	[[74766981, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776657], [74790028, 74790128], [74804738, 74804809], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834673], [74856523, 74856732]]	[[74767979, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776657], [74790028, 74790128], [74804738, 74804809], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834641]]
ENST00000464310	[[74769397, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776619]]	None
NM_001142595	[[74766974, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776657], [74790028, 74790128], [74804738, 74804809], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834673], [74837478, 74837571], [74856523, 74856732]]	[[74767979, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776657], [74790028, 74790128], [74804738, 74804809], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834641]]
NM_001017962	[[74766974, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776657], [74790028, 74790128], [74804738, 74804809], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834673], [74856523, 74856732]]	[[74767979, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776657], [74790028, 74790128], [74804738, 74804809], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834641]]
NM_000917	[[74766974, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776657], [74790028, 74790128], [74803644, 74803715], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834673], [74856523, 74856732]]	[[74767979, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74776603, 74776657], [74790028, 74790128], [74803644, 74803715], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834641]]
NM_001142596	[[74766974, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74790028, 74790128], [74803644, 74803715], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834673], [74856523, 74856732]]	[[74767979, 74768050], [74769564, 74769661], [74770726, 74770795], [74773981, 74774047], [74790028, 74790128], [74803644, 74803715], [74806682, 74806859], [74810810, 74811007], [74813108, 74813348], [74828603, 74828741], [74831786, 74831938], [74833488, 74833585], [74834565, 74834641]]

Promoter

Chrom	Start	End	Description
chr10	74856613	74856631	CAGE_peak_1_at_P4HA1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I072340	72340463	72340911	1.02	[{'connected_gene': 'DNAJB12', 'score': 19.96}, {'connected_gene': 'P4HA1', 'score': 3.84}, {'connected_gene': 'DDIT4-AS1', 'score': 0.21}]
chr10	GH10I072326	72326602	72337892	1.84	[{'connected_gene': 'DNAJB12', 'score': 39.58}, {'connected_gene': 'ECD', 'score': 22.9}, {'connected_gene': 'ENSG00000227540', 'score': 21.6}, {'connected_gene': 'DNAJC9', 'score': 14.05}, {'connected_gene': 'RPL17P50', 'score': 12.75}, {'connected_gene': 'ENSG00000272599', 'score': 11.71}, {'connected_gene': 'DDIT4', 'score': 4.84}, {'connected_gene': 'PSAP', 'score': 4.42}, {'connected_gene': 'P4HA1', 'score': 3.83}, {'connected_gene': 'SPOCK2', 'score': 2.52}, {'connected_gene': 'DDIT4-AS1', 'score': 0.22}]
chr10	GH10I072352	72352747	72355732	2.34	[{'connected_gene': 'DNAJB12', 'score': 607.96}, {'connected_gene': 'ECD', 'score': 52.56}, {'connected_gene': 'EIF4A2P2', 'score': 23.4}, {'connected_gene': 'ENSG00000227540', 'score': 21.6}, {'connected_gene': 'DNAJC9', 'score': 13.34}, {'connected_gene': 'ENSG00000272599', 'score': 11.71}, {'connected_gene': 'CHST3', 'score': 10.13}, {'connected_gene': 'RPL17P50', 'score': 9.69}, {'connected_gene': 'P4HA1', 'score': 3.91}, {'connected_gene': 'DDIT4-AS1', 'score': 0.18}]
chr10	GH10I073093	73093993	73098082	2.31	[{'connected_gene': 'P4HA1', 'score': 550.77}, {'connected_gene': 'NUDT13', 'score': 34.34}, {'connected_gene': 'ECD', 'score': 34.2}, {'connected_gene': 'DNAJB12', 'score': 30.2}, {'connected_gene': 'GLUD1P3', 'score': 25.71}, {'connected_gene': 'DUSP8P5', 'score': 25.69}, {'connected_gene': 'NDST2', 'score': 25.35}, {'connected_gene': 'ZSWIM8', 'score': 23.0}, {'connected_gene': 'SEC24C', 'score': 22.02}, {'connected_gene': 'CFAP70', 'score': 16.56}, {'connected_gene': 'ENSG00000242288', 'score': 14.86}, {'connected_gene': 'ENSG00000272140', 'score': 12.62}, {'connected_gene': 'ZSWIM8-AS1', 'score': 12.15}, {'connected_gene': 'ENSG00000237768', 'score': 11.36}, {'connected_gene': 'BMS1P4', 'score': 11.08}, {'connected_gene': 'ENSG00000268584', 'score': 10.59}, {'connected_gene': 'AGAP5', 'score': 10.18}, {'connected_gene': 'RPL17P50', 'score': 10.05}, {'connected_gene': 'ENSG00000224195', 'score': 10.02}, {'connected_gene': 'ENSG00000272630', 'score': 0.44}, {'connected_gene': 'GC10M073083', 'score': 0.39}, {'connected_gene': 'ENSG00000201047', 'score': 0.39}]
chr10	GH10I073094	73093401	73093800	0.43	[{'connected_gene': 'NUDT13', 'score': 17.18}, {'connected_gene': 'ENSG00000237768', 'score': 12.97}, {'connected_gene': 'P4HA1', 'score': 0.77}, {'connected_gene': 'GC10M073083', 'score': 0.39}, {'connected_gene': 'ENSG00000201047', 'score': 0.39}]
chr10	GH10I073080	73080263	73080412	0.49	[{'connected_gene': 'NUDT13', 'score': 11.02}, {'connected_gene': 'GC10M073083', 'score': 0.77}, {'connected_gene': 'ENSG00000201047', 'score': 0.77}, {'connected_gene': 'ENSG00000237768', 'score': 0.44}, {'connected_gene': 'P4HA1', 'score': 0.37}]
chr10	GH10I073038	73038988	73040642	0.43	[{'connected_gene': 'NUDT13', 'score': 33.88}, {'connected_gene': 'CFAP70', 'score': 15.18}, {'connected_gene': 'ENSG00000237768', 'score': 11.41}, {'connected_gene': 'ENSG00000232646', 'score': 0.31}, {'connected_gene': 'RPL17P50', 'score': 0.29}, {'connected_gene': 'P4HA1', 'score': 0.22}]
chr10	GH10I073043	73043303	73045689	0.92	[{'connected_gene': 'NUDT13', 'score': 22.58}, {'connected_gene': 'CFAP70', 'score': 15.13}, {'connected_gene': 'ENSG00000237768', 'score': 11.43}, {'connected_gene': 'ENSG00000232646', 'score': 0.34}, {'connected_gene': 'RPL17P50', 'score': 0.28}, {'connected_gene': 'P4HA1', 'score': 0.23}]
chr10	GH10I073098	73098734	73099538	0.2	[{'connected_gene': 'NUDT13', 'score': 34.26}, {'connected_gene': 'CFAP70', 'score': 15.06}, {'connected_gene': 'P4HA1', 'score': 0.77}, {'connected_gene': 'ENSG00000272630', 'score': 0.77}]
chr10	GH10I073076	73076248	73077856	0.66	[{'connected_gene': 'NUDT13', 'score': 44.1}, {'connected_gene': 'CFAP70', 'score': 15.33}, {'connected_gene': 'ENSG00000237768', 'score': 0.44}, {'connected_gene': 'GC10M073083', 'score': 0.44}, {'connected_gene': 'ENSG00000201047', 'score': 0.44}, {'connected_gene': 'P4HA1', 'score': 0.37}]
chr10	GH10I073017	73017557	73019186	0.38	[{'connected_gene': 'NUDT13', 'score': 32.76}, {'connected_gene': 'CFAP70', 'score': 10.87}, {'connected_gene': 'OIT3', 'score': 10.19}, {'connected_gene': 'ENSG00000226163', 'score': 9.24}, {'connected_gene': 'RPL17P50', 'score': 0.39}, {'connected_gene': 'ENSG00000232646', 'score': 0.25}, {'connected_gene': 'P4HA1', 'score': 0.18}]
chr10	GH10I073091	73091163	73091400	0.47	[{'connected_gene': 'NUDT13', 'score': 18.55}, {'connected_gene': 'ECD', 'score': 2.34}, {'connected_gene': 'ANXA7', 'score': 1.75}, {'connected_gene': 'P4HA1', 'score': 0.44}, {'connected_gene': 'GC10M073083', 'score': 0.44}, {'connected_gene': 'ENSG00000201047', 'score': 0.44}]
chr10	GH10I073061	73061183	73061312	0.65	[{'connected_gene': 'OIT3', 'score': 9.94}, {'connected_gene': 'ENSG00000232646', 'score': 0.77}, {'connected_gene': 'P4HA1', 'score': 0.28}, {'connected_gene': 'RPL17P50', 'score': 0.23}]
chr10	GH10I073086	73086963	73087072	0.43	[{'connected_gene': 'GC10M073083', 'score': 0.77}, {'connected_gene': 'ENSG00000201047', 'score': 0.77}, {'connected_gene': 'P4HA1', 'score': 0.44}]