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
ENST00000409178	[[75669726, 75671853], [75671957, 75672042], [75672800, 75672833], [75676276, 75676399], [75682390, 75682535]]	[[75671442, 75671853], [75671957, 75672002]]
ENST00000412307	[[75669735, 75671853], [75671957, 75672042], [75672800, 75672833], [75676276, 75676400]]	[[75671442, 75671853], [75671957, 75672002]]
NM_001001791	[[75669726, 75671853], [75671957, 75672042], [75672800, 75672833], [75676276, 75676399], [75682390, 75682535]]	[[75671442, 75671853], [75671957, 75672002]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I073918	73918523	73920910	1.04	[{'connected_gene': 'SEC24C', 'score': 14.76}, {'connected_gene': 'ZSWIM8', 'score': 14.32}, {'connected_gene': 'ENSG00000272140', 'score': 13.43}, {'connected_gene': 'ZSWIM8-AS1', 'score': 12.92}, {'connected_gene': 'BMS1P4', 'score': 11.65}, {'connected_gene': 'GLUD1P3', 'score': 11.53}, {'connected_gene': 'DUSP8P5', 'score': 11.01}, {'connected_gene': 'AGAP5', 'score': 10.9}, {'connected_gene': 'CAMK2G', 'score': 10.85}, {'connected_gene': 'ENSG00000229990', 'score': 10.79}, {'connected_gene': 'ENSG00000242288', 'score': 10.6}, {'connected_gene': 'VCL', 'score': 10.57}, {'connected_gene': 'AP3M1', 'score': 10.32}, {'connected_gene': 'NDST2', 'score': 10.23}, {'connected_gene': 'ECD', 'score': 9.97}, {'connected_gene': 'FUT11', 'score': 9.45}, {'connected_gene': 'PPP3CB-AS1', 'score': 4.18}, {'connected_gene': 'C10orf55', 'score': 0.77}, {'connected_gene': 'PLAU', 'score': 0.39}]
chr10	GH10I073838	73838943	73839112	0.51	[{'connected_gene': 'NDST2', 'score': 12.0}, {'connected_gene': 'ENSG00000224195', 'score': 12.0}, {'connected_gene': 'CAMK2G', 'score': 11.97}, {'connected_gene': 'ZSWIM8', 'score': 11.05}, {'connected_gene': 'C10orf55', 'score': 10.25}, {'connected_gene': 'ENSG00000229990', 'score': 0.77}]
chr10	GH10I073886	73886002	73896016	1.71	[{'connected_gene': 'NDST2', 'score': 22.99}, {'connected_gene': 'ENSG00000272791', 'score': 17.97}, {'connected_gene': 'ENSG00000268584', 'score': 17.77}, {'connected_gene': 'AGAP5', 'score': 14.64}, {'connected_gene': 'ENSG00000227540', 'score': 13.46}, {'connected_gene': 'C10orf55', 'score': 12.79}, {'connected_gene': 'FUT11', 'score': 11.99}, {'connected_gene': 'ENSG00000229990', 'score': 11.71}, {'connected_gene': 'ENSG00000272599', 'score': 11.54}, {'connected_gene': 'ENSG00000224195', 'score': 11.33}, {'connected_gene': 'CFAP70', 'score': 10.95}, {'connected_gene': 'ECD', 'score': 10.95}, {'connected_gene': 'VCL', 'score': 10.9}, {'connected_gene': 'DNAJC9-AS1', 'score': 10.83}, {'connected_gene': 'MYOZ1', 'score': 9.13}, {'connected_gene': 'CAMK2G', 'score': 7.68}, {'connected_gene': 'SEC24C', 'score': 6.35}, {'connected_gene': 'DUSP8P5', 'score': 6.22}, {'connected_gene': 'ENSG00000272630', 'score': 4.93}, {'connected_gene': 'ANXA7', 'score': 3.49}, {'connected_gene': 'PLAU', 'score': 0.37}]
chr10	GH10I073926	73926001	73926801	0.91	[{'connected_gene': 'NDST2', 'score': 3.58}, {'connected_gene': 'GC10P073930', 'score': 0.77}, {'connected_gene': 'C10orf55', 'score': 0.77}]
chr10	GH10I074010	74010409	74013302	1.23	[{'connected_gene': 'NDST2', 'score': 12.11}, {'connected_gene': 'ENSG00000268584', 'score': 11.56}, {'connected_gene': 'ZSWIM8', 'score': 11.39}, {'connected_gene': 'C10orf55', 'score': 10.86}, {'connected_gene': 'ECD', 'score': 10.69}, {'connected_gene': 'ZSWIM8-AS1', 'score': 10.51}, {'connected_gene': 'ENSG00000272791', 'score': 10.44}, {'connected_gene': 'CHCHD1', 'score': 4.83}, {'connected_gene': 'ENSG00000225761', 'score': 0.44}, {'connected_gene': 'VCL', 'score': 0.37}, {'connected_gene': 'GC10P074056', 'score': 0.26}]
chr10	GH10I073850	73850224	73851725	0.94	[{'connected_gene': 'CAMK2G', 'score': 20.78}, {'connected_gene': 'NDST2', 'score': 11.28}, {'connected_gene': 'ENSG00000224195', 'score': 11.28}, {'connected_gene': 'C10orf55', 'score': 11.0}, {'connected_gene': 'ENSG00000272630', 'score': 5.05}, {'connected_gene': 'MYOZ1', 'score': 4.07}, {'connected_gene': 'ENSG00000229990', 'score': 0.44}]
chr10	GH10I073851	73851892	73852672	0.2	[{'connected_gene': 'CAMK2G', 'score': 12.72}, {'connected_gene': 'ENSG00000224195', 'score': 11.28}, {'connected_gene': 'NDST2', 'score': 11.26}, {'connected_gene': 'C10orf55', 'score': 11.0}, {'connected_gene': 'ENSG00000229990', 'score': 0.39}]
chr10	GH10I073836	73836560	73838085	0.63	[{'connected_gene': 'CAMK2G', 'score': 19.81}, {'connected_gene': 'MYOZ1', 'score': 13.27}, {'connected_gene': 'ENSG00000224195', 'score': 12.03}, {'connected_gene': 'NDST2', 'score': 12.0}, {'connected_gene': 'ZSWIM8', 'score': 11.05}, {'connected_gene': 'C10orf55', 'score': 10.24}, {'connected_gene': 'ENSG00000229990', 'score': 0.77}]
chr10	GH10I073955	73955955	73960604	1.47	[{'connected_gene': 'VCL', 'score': 12.31}, {'connected_gene': 'PLAU', 'score': 12.19}, {'connected_gene': 'C10orf55', 'score': 11.98}, {'connected_gene': 'NDST2', 'score': 9.2}, {'connected_gene': 'ADK', 'score': 6.75}, {'connected_gene': 'ANXA7', 'score': 4.21}, {'connected_gene': 'CFAP70', 'score': 4.01}, {'connected_gene': 'FUT11', 'score': 1.22}, {'connected_gene': 'GC10M073941', 'score': 0.37}]
chr10	GH10I073974	73974313	73974746	0.54	[{'connected_gene': 'VCL', 'score': 12.93}, {'connected_gene': 'PLAU', 'score': 11.71}, {'connected_gene': 'C10orf55', 'score': 11.7}, {'connected_gene': 'CAMK2G', 'score': 10.39}, {'connected_gene': 'ENSG00000229990', 'score': 10.35}, {'connected_gene': 'GC10M073941', 'score': 0.29}]
chr10	GH10I074027	74027843	74027952	0.2	[{'connected_gene': 'VCL', 'score': 12.25}, {'connected_gene': 'C10orf55', 'score': 10.85}, {'connected_gene': 'CAMK2G', 'score': 10.48}, {'connected_gene': 'ENSG00000229990', 'score': 10.46}, {'connected_gene': 'ENSG00000225761', 'score': 0.34}, {'connected_gene': 'GC10P074056', 'score': 0.31}]
chr10	GH10I074026	74025401	74025600	0.63	[{'connected_gene': 'VCL', 'score': 12.25}, {'connected_gene': 'C10orf55', 'score': 10.86}, {'connected_gene': 'CAMK2G', 'score': 10.48}, {'connected_gene': 'ENSG00000229990', 'score': 10.46}, {'connected_gene': 'ENSG00000225761', 'score': 0.34}, {'connected_gene': 'GC10P074056', 'score': 0.29}]
chr10	GH10I074025	74025801	74026200	0.92	[{'connected_gene': 'VCL', 'score': 12.25}, {'connected_gene': 'C10orf55', 'score': 10.86}, {'connected_gene': 'CAMK2G', 'score': 10.48}, {'connected_gene': 'ENSG00000229990', 'score': 10.46}, {'connected_gene': 'ENSG00000225761', 'score': 0.34}, {'connected_gene': 'GC10P074056', 'score': 0.29}]
chr10	GH10I074030	74030735	74031807	0.38	[{'connected_gene': 'VCL', 'score': 12.58}, {'connected_gene': 'C10orf55', 'score': 11.4}, {'connected_gene': 'GC10P074056', 'score': 0.31}, {'connected_gene': 'ENSG00000225761', 'score': 0.31}]
chr10	GH10I073996	73996901	74001634	2.28	[{'connected_gene': 'VCL', 'score': 550.77}, {'connected_gene': 'ECD', 'score': 44.25}, {'connected_gene': 'AP3M1', 'score': 36.47}, {'connected_gene': 'SEC24C', 'score': 34.12}, {'connected_gene': 'ZSWIM8', 'score': 31.48}, {'connected_gene': 'GLUD1P3', 'score': 30.16}, {'connected_gene': 'ZSWIM8-AS1', 'score': 28.54}, {'connected_gene': 'NDST2', 'score': 26.85}, {'connected_gene': 'DUSP8P5', 'score': 21.07}, {'connected_gene': 'RPL17P50', 'score': 20.82}, {'connected_gene': 'ENSG00000242288', 'score': 17.98}, {'connected_gene': 'ENSG00000272140', 'score': 15.89}, {'connected_gene': 'ADK', 'score': 13.33}, {'connected_gene': 'BMS1P4', 'score': 12.95}, {'connected_gene': 'ENSG00000268584', 'score': 12.0}, {'connected_gene': 'AGAP5', 'score': 11.2}, {'connected_gene': 'KAT6B', 'score': 10.9}, {'connected_gene': 'CAMK2G', 'score': 10.51}, {'connected_gene': 'C10orf55', 'score': 10.31}, {'connected_gene': 'PLAU', 'score': 5.29}, {'connected_gene': 'ENSG00000225761', 'score': 0.44}]
chr10	GH10I073863	73863533	73868252	1.35	[{'connected_gene': 'MYOZ1', 'score': 12.24}, {'connected_gene': 'NDST2', 'score': 12.08}, {'connected_gene': 'ENSG00000224195', 'score': 12.08}, {'connected_gene': 'ENSG00000229990', 'score': 12.04}, {'connected_gene': 'C10orf55', 'score': 10.8}, {'connected_gene': 'CAMK2G', 'score': 9.24}, {'connected_gene': 'FUT11', 'score': 3.95}, {'connected_gene': 'ZSWIM8', 'score': 2.26}]
chr10	GH10I073905	73905242	73916009	2.75	[{'connected_gene': 'PLAU', 'score': 550.77}, {'connected_gene': 'CAMK2G', 'score': 10.88}, {'connected_gene': 'ENSG00000229990', 'score': 10.81}, {'connected_gene': 'VCL', 'score': 10.56}, {'connected_gene': 'FUT11', 'score': 9.92}, {'connected_gene': 'NDST2', 'score': 7.05}, {'connected_gene': 'SEC24C', 'score': 6.62}, {'connected_gene': 'CFAP70', 'score': 6.16}, {'connected_gene': 'ZSWIM8-AS1', 'score': 5.58}, {'connected_gene': 'NUDT13', 'score': 5.29}, {'connected_gene': 'MYOZ1', 'score': 4.93}, {'connected_gene': 'ANXA7', 'score': 2.09}, {'connected_gene': 'C10orf55', 'score': 0.39}]
chr10	GH10I074069	74069980	74073972	0.62	[{'connected_gene': 'PLAU', 'score': 11.67}, {'connected_gene': 'C10orf55', 'score': 11.33}, {'connected_gene': 'VCL', 'score': 11.07}, {'connected_gene': 'CAMK2G', 'score': 10.92}, {'connected_gene': 'ENSG00000229990', 'score': 10.35}, {'connected_gene': 'ADK', 'score': 7.46}, {'connected_gene': 'GC10P074056', 'score': 0.37}, {'connected_gene': 'GC10M074121', 'score': 0.25}]
chr10	GH10I073878	73878926	73880304	1.69	[{'connected_gene': 'PLAU', 'score': 12.4}, {'connected_gene': 'ENSG00000229990', 'score': 12.11}, {'connected_gene': 'C10orf55', 'score': 11.98}, {'connected_gene': 'VCL', 'score': 11.2}, {'connected_gene': 'MYOZ1', 'score': 10.55}, {'connected_gene': 'FUT11', 'score': 6.64}, {'connected_gene': 'NDST2', 'score': 5.39}, {'connected_gene': 'CAMK2G', 'score': 0.44}]
chr10	GH10I073916	73916197	73917857	1.56	[{'connected_gene': 'C10orf55', 'score': 550.44}, {'connected_gene': 'CAMK2G', 'score': 10.86}, {'connected_gene': 'ENSG00000229990', 'score': 10.79}, {'connected_gene': 'VCL', 'score': 10.57}, {'connected_gene': 'FUT11', 'score': 9.8}, {'connected_gene': 'PLAU', 'score': 0.44}]
chr10	GH10I074096	74096903	74097052	0.7	[{'connected_gene': 'C10orf55', 'score': 10.92}, {'connected_gene': 'CAMK2G', 'score': 10.68}, {'connected_gene': 'ENSG00000229990', 'score': 10.67}, {'connected_gene': 'GC10M074121', 'score': 0.34}, {'connected_gene': 'GC10P074056', 'score': 0.26}, {'connected_gene': 'VCL', 'score': 0.15}]
chr10	GH10I074015	74015639	74017124	0.38	[{'connected_gene': 'C10orf55', 'score': 10.96}, {'connected_gene': 'ENSG00000225761', 'score': 0.39}, {'connected_gene': 'VCL', 'score': 0.34}, {'connected_gene': 'GC10P074056', 'score': 0.26}]
chr10	GH10I074018	74018343	74018492	0.94	[{'connected_gene': 'C10orf55', 'score': 11.05}, {'connected_gene': 'ENSG00000225761', 'score': 0.39}, {'connected_gene': 'VCL', 'score': 0.34}, {'connected_gene': 'GC10P074056', 'score': 0.28}]
chr10	GH10I073922	73922103	73922252	0.49	[{'connected_gene': 'C10orf55', 'score': 550.77}, {'connected_gene': 'PLAU', 'score': 0.39}]
chr10	GH10I073924	73924083	73924232	0.38	[{'connected_gene': 'C10orf55', 'score': 550.77}, {'connected_gene': 'FUT11', 'score': 9.32}, {'connected_gene': 'GC10P073930', 'score': 0.44}]
chr10	GH10I073964	73964099	73970299	2.07	[{'connected_gene': 'GLUD1P3', 'score': 16.84}, {'connected_gene': 'RPL17P50', 'score': 15.5}, {'connected_gene': 'DUSP8P5', 'score': 15.11}, {'connected_gene': 'DNAJC9', 'score': 14.97}, {'connected_gene': 'ADK', 'score': 13.78}, {'connected_gene': 'AP3M1', 'score': 13.12}, {'connected_gene': 'VCL', 'score': 12.91}, {'connected_gene': 'ENSG00000272140', 'score': 12.56}, {'connected_gene': 'PLAU', 'score': 12.33}, {'connected_gene': 'ECD', 'score': 11.75}, {'connected_gene': 'C10orf55', 'score': 11.73}, {'connected_gene': 'KAT6B', 'score': 11.45}, {'connected_gene': 'SEC24C', 'score': 11.11}, {'connected_gene': 'BMS1P4', 'score': 11.08}, {'connected_gene': 'CAMK2G', 'score': 11.04}, {'connected_gene': 'ENSG00000229990', 'score': 10.51}, {'connected_gene': 'ENSG00000242288', 'score': 9.95}, {'connected_gene': 'RPL26P6', 'score': 9.69}, {'connected_gene': 'ANXA7', 'score': 5.21}, {'connected_gene': 'LOC105378360', 'score': 4.62}, {'connected_gene': 'CFAP70', 'score': 4.48}, {'connected_gene': 'GC10M073941', 'score': 0.31}]
chr10	GH10I074028	74028866	74030052	1	[{'connected_gene': 'DNAJC9', 'score': 14.97}, {'connected_gene': 'VCL', 'score': 12.6}, {'connected_gene': 'C10orf55', 'score': 10.85}, {'connected_gene': 'CAMK2G', 'score': 10.48}, {'connected_gene': 'ENSG00000229990', 'score': 10.46}, {'connected_gene': 'RPL26P6', 'score': 9.69}, {'connected_gene': 'ENSG00000225761', 'score': 0.34}, {'connected_gene': 'GC10P074056', 'score': 0.31}]
chr10	GH10I074023	74023272	74024536	0.84	[{'connected_gene': 'DNAJC9', 'score': 18.43}, {'connected_gene': 'ENSG00000272630', 'score': 14.21}, {'connected_gene': 'VCL', 'score': 12.27}, {'connected_gene': 'ENSG00000227540', 'score': 12.21}, {'connected_gene': 'FAM149B1', 'score': 12.0}, {'connected_gene': 'C10orf55', 'score': 10.86}, {'connected_gene': 'KAT6B', 'score': 10.71}, {'connected_gene': 'CAMK2G', 'score': 10.49}, {'connected_gene': 'ENSG00000229990', 'score': 10.46}, {'connected_gene': 'ADK', 'score': 8.49}, {'connected_gene': 'ENSG00000225761', 'score': 0.37}, {'connected_gene': 'GC10P074056', 'score': 0.29}]
chr10	GH10I073576	73575793	73578824	1.43	[{'connected_gene': 'USP54', 'score': 15.82}, {'connected_gene': 'SYNPO2L', 'score': 11.09}, {'connected_gene': 'RNU6-883P', 'score': 11.09}, {'connected_gene': 'NUDT13', 'score': 10.37}, {'connected_gene': 'PPP3CB', 'score': 2.68}, {'connected_gene': 'CAMK2G', 'score': 2.3}, {'connected_gene': 'CFAP70', 'score': 2.03}, {'connected_gene': 'C10orf55', 'score': 1.17}, {'connected_gene': 'GC10P073575', 'score': 0.77}, {'connected_gene': 'GC10P073587', 'score': 0.44}]
chr10	GH10I074049	74049587	74050866	1.03	[{'connected_gene': 'ADK', 'score': 33.35}, {'connected_gene': 'VCL', 'score': 11.88}, {'connected_gene': 'CAMK2G', 'score': 11.53}, {'connected_gene': 'C10orf55', 'score': 11.31}, {'connected_gene': 'GC10P074056', 'score': 0.44}, {'connected_gene': 'ENSG00000225761', 'score': 0.25}]
chr10	GH10I074020	74020385	74022435	1.39	[{'connected_gene': 'ADK', 'score': 17.34}, {'connected_gene': 'VCL', 'score': 12.41}, {'connected_gene': 'C10orf55', 'score': 11.15}, {'connected_gene': 'PLAU', 'score': 11.03}, {'connected_gene': 'CAMK2G', 'score': 10.49}, {'connected_gene': 'ENSG00000229990', 'score': 10.47}, {'connected_gene': 'ENSG00000225761', 'score': 0.37}, {'connected_gene': 'GC10P074056', 'score': 0.28}]
chr10	GH10I074007	74007763	74009312	1.21	[{'connected_gene': 'ADK', 'score': 13.73}, {'connected_gene': 'C10orf55', 'score': 11.24}, {'connected_gene': 'ENSG00000225761', 'score': 0.77}, {'connected_gene': 'VCL', 'score': 0.39}, {'connected_gene': 'GC10P074056', 'score': 0.25}]
chr10	GH10I074206	74206280	74209907	0.94	[{'connected_gene': 'ADK', 'score': 27.52}, {'connected_gene': 'AP3M1', 'score': 11.87}, {'connected_gene': 'DNAJC9', 'score': 11.56}, {'connected_gene': 'ZSWIM8-AS1', 'score': 11.29}, {'connected_gene': 'C10orf55', 'score': 9.62}, {'connected_gene': 'ENSG00000272140', 'score': 4.22}, {'connected_gene': 'GC10P074285', 'score': 0.18}]
chr10	GH10I074003	74003923	74005036	0.49	[{'connected_gene': 'ENSG00000225761', 'score': 550.77}, {'connected_gene': 'C10orf55', 'score': 11.25}, {'connected_gene': 'CAMK2G', 'score': 10.51}, {'connected_gene': 'PLAU', 'score': 5.02}, {'connected_gene': 'VCL', 'score': 0.44}]
chr10	GH10I074006	74006033	74006975	0.57	[{'connected_gene': 'ENSG00000225761', 'score': 550.77}, {'connected_gene': 'C10orf55', 'score': 11.25}, {'connected_gene': 'VCL', 'score': 0.39}, {'connected_gene': 'GC10P074056', 'score': 0.23}]
chr10	GH10I073930	73930215	73931400	1.15	[{'connected_gene': 'GC10P073930', 'score': 550.77}, {'connected_gene': 'GLUD1P3', 'score': 38.66}, {'connected_gene': 'ECD', 'score': 37.41}, {'connected_gene': 'ENSG00000272140', 'score': 37.08}, {'connected_gene': 'AGAP5', 'score': 36.9}, {'connected_gene': 'DUSP8P5', 'score': 36.9}, {'connected_gene': 'SEC24C', 'score': 34.13}, {'connected_gene': 'ZSWIM8', 'score': 28.47}, {'connected_gene': 'KAT6B', 'score': 22.99}, {'connected_gene': 'AP3M1', 'score': 22.74}, {'connected_gene': 'BMS1P4', 'score': 20.91}, {'connected_gene': 'ENSG00000242288', 'score': 19.98}, {'connected_gene': 'ENSG00000268584', 'score': 19.02}, {'connected_gene': 'NDST2', 'score': 16.33}, {'connected_gene': 'ZSWIM8-AS1', 'score': 16.03}, {'connected_gene': 'RPL17P50', 'score': 13.61}, {'connected_gene': 'ENSG00000272791', 'score': 13.03}, {'connected_gene': 'ENSG00000224195', 'score': 12.17}, {'connected_gene': 'ENSG00000272599', 'score': 11.71}, {'connected_gene': 'ENSG00000227540', 'score': 9.77}, {'connected_gene': 'FUT11', 'score': 8.96}, {'connected_gene': 'C10orf55', 'score': 0.44}]
chr10	GH10I073784	73784723	73787001	2.06	[{'connected_gene': 'GC10P073790', 'score': 550.77}, {'connected_gene': 'GC10P073789', 'score': 550.77}, {'connected_gene': 'ZSWIM8', 'score': 550.77}, {'connected_gene': 'MYOZ1', 'score': 16.4}, {'connected_gene': 'NDST2', 'score': 12.81}, {'connected_gene': 'ENSG00000224195', 'score': 12.81}, {'connected_gene': 'CAMK2G', 'score': 12.66}, {'connected_gene': 'SEC24C', 'score': 12.35}, {'connected_gene': 'ENSG00000229990', 'score': 11.51}, {'connected_gene': 'C10orf55', 'score': 10.18}, {'connected_gene': 'FUT11', 'score': 7.92}, {'connected_gene': 'CFAP70', 'score': 4.52}]
chr10	GH10I074054	74054675	74058999	1.32	[{'connected_gene': 'GC10P074056', 'score': 550.77}, {'connected_gene': 'ADK', 'score': 33.82}, {'connected_gene': 'VCL', 'score': 16.29}, {'connected_gene': 'C10orf55', 'score': 11.4}, {'connected_gene': 'CAMK2G', 'score': 10.67}, {'connected_gene': 'ENSG00000229990', 'score': 10.66}, {'connected_gene': 'GC10M074121', 'score': 0.21}]