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
ENST00000373644	[[70320412, 70320499], [70331973, 70334009], [70360737, 70360791], [70404454, 70406762], [70411602, 70411693], [70412257, 70412351], [70426801, 70427013], [70432651, 70432802], [70441155, 70441245], [70442592, 70442730], [70446112, 70446464], [70450564, 70454239]]	[[70332095, 70334009], [70360737, 70360791], [70404454, 70406762], [70411602, 70411693], [70412257, 70412351], [70426801, 70427013], [70432651, 70432802], [70441155, 70441245], [70442592, 70442730], [70446112, 70446464], [70450564, 70451571]]
NM_030625	[[70320116, 70320499], [70331973, 70334009], [70360737, 70360791], [70404454, 70406762], [70411602, 70411693], [70412257, 70412351], [70426801, 70427013], [70432651, 70432802], [70441155, 70441245], [70442592, 70442730], [70446112, 70446464], [70450564, 70454239]]	[[70332095, 70334009], [70360737, 70360791], [70404454, 70406762], [70411602, 70411693], [70412257, 70412351], [70426801, 70427013], [70432651, 70432802], [70441155, 70441245], [70442592, 70442730], [70446112, 70446464], [70450564, 70451571]]

Promoter

Chrom	Start	End	Description
chr10	70320041	70320065	CAGE_peak_2_at_TET1_5end
chr10	70320074	70320106	CAGE_peak_1_at_TET1_5end
chr10	70320115	70320126	CAGE_peak_3_at_TET1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I068526	68526176	68528415	2.1	[{'connected_gene': 'SLC25A16', 'score': 558.75}, {'connected_gene': 'DDX50', 'score': 34.02}, {'connected_gene': 'DNA2', 'score': 29.84}, {'connected_gene': 'CCAR1', 'score': 27.76}, {'connected_gene': 'HNRNPH3', 'score': 23.88}, {'connected_gene': 'HERC4', 'score': 23.84}, {'connected_gene': 'SIRT1', 'score': 20.89}, {'connected_gene': 'RPL26P27', 'score': 14.33}, {'connected_gene': 'SUPV3L1', 'score': 12.09}, {'connected_gene': 'MIR1254-1', 'score': 11.5}, {'connected_gene': 'TET1', 'score': 10.83}, {'connected_gene': 'DDX21', 'score': 9.7}, {'connected_gene': 'ENSG00000207438', 'score': 0.34}]
chr10	GH10I068550	68550864	68551053	0.83	[{'connected_gene': 'SLC25A16', 'score': 12.03}, {'connected_gene': 'CCAR1', 'score': 11.32}, {'connected_gene': 'DDX50', 'score': 11.06}, {'connected_gene': 'MIR1254-1', 'score': 10.56}, {'connected_gene': 'SNORD98', 'score': 9.97}, {'connected_gene': 'TMEM14DP', 'score': 0.44}, {'connected_gene': 'TET1', 'score': 0.44}]
chr10	GH10I068553	68553244	68553473	0.49	[{'connected_gene': 'SLC25A16', 'score': 12.0}, {'connected_gene': 'CCAR1', 'score': 11.33}, {'connected_gene': 'DDX50', 'score': 11.06}, {'connected_gene': 'MIR1254-1', 'score': 10.56}, {'connected_gene': 'SNORD98', 'score': 9.97}, {'connected_gene': 'TMEM14DP', 'score': 0.44}, {'connected_gene': 'TET1', 'score': 0.44}]
chr10	GH10I068559	68559684	68564017	2.07	[{'connected_gene': 'TET1', 'score': 550.77}, {'connected_gene': 'CCAR1', 'score': 51.11}, {'connected_gene': 'DDX50', 'score': 46.04}, {'connected_gene': 'HERC4', 'score': 44.35}, {'connected_gene': 'HNRNPH3', 'score': 21.91}, {'connected_gene': 'SIRT1', 'score': 21.54}, {'connected_gene': 'DNA2', 'score': 17.68}, {'connected_gene': 'RPL26P27', 'score': 11.17}, {'connected_gene': 'ATOH7', 'score': 4.14}, {'connected_gene': 'GC10P068600', 'score': 0.28}]
chr10	GH10I068566	68566444	68566593	0.2	[{'connected_gene': 'CCAR1', 'score': 11.14}, {'connected_gene': 'TET1', 'score': 0.44}, {'connected_gene': 'GC10P068600', 'score': 0.29}]
chr10	GH10I068119	68119294	68120402	0.77	[{'connected_gene': 'CCAR1', 'score': 120.4}, {'connected_gene': 'HNRNPH3', 'score': 90.09}, {'connected_gene': 'DDX50', 'score': 71.64}, {'connected_gene': 'SIRT1', 'score': 63.64}, {'connected_gene': 'HERC4', 'score': 60.42}, {'connected_gene': 'TET1', 'score': 20.33}, {'connected_gene': 'KIF1BP', 'score': 19.78}, {'connected_gene': 'RUFY2', 'score': 13.61}, {'connected_gene': 'ENSG00000260400', 'score': 11.11}, {'connected_gene': 'RPL26P27', 'score': 10.1}, {'connected_gene': 'RPS3AP38', 'score': 9.98}, {'connected_gene': 'RPL12P8', 'score': 9.84}, {'connected_gene': 'MYPN', 'score': 0.39}, {'connected_gene': 'RN7SKP202', 'score': 0.28}]
chr10	GH10I067790	67790601	67791247	1.12	[{'connected_gene': 'CCAR1', 'score': 18.01}, {'connected_gene': 'SIRT1', 'score': 17.69}, {'connected_gene': 'HNRNPH3', 'score': 16.01}, {'connected_gene': 'HERC4', 'score': 11.31}, {'connected_gene': 'TET1', 'score': 10.89}, {'connected_gene': 'RPL21P92', 'score': 0.77}, {'connected_gene': 'TRS-TGA1-1', 'score': 0.31}]
chr10	GH10I068405	68405428	68408216	2.03	[{'connected_gene': 'RUFY2', 'score': 550.77}, {'connected_gene': 'DDX50', 'score': 21.39}, {'connected_gene': 'SIRT1', 'score': 19.84}, {'connected_gene': 'DNA2', 'score': 18.69}, {'connected_gene': 'HNRNPH3', 'score': 13.16}, {'connected_gene': 'TET1', 'score': 10.64}, {'connected_gene': 'PBLD', 'score': 0.19}]
chr10	GH10I068327	68327728	68336812	2.63	[{'connected_gene': 'HNRNPH3', 'score': 595.67}, {'connected_gene': 'PBLD', 'score': 552.82}, {'connected_gene': 'DDX50', 'score': 46.3}, {'connected_gene': 'HERC4', 'score': 41.76}, {'connected_gene': 'CCAR1', 'score': 35.46}, {'connected_gene': 'SIRT1', 'score': 22.14}, {'connected_gene': 'DNA2', 'score': 19.78}, {'connected_gene': 'RPL26P27', 'score': 19.14}, {'connected_gene': 'TET1', 'score': 11.05}, {'connected_gene': 'RPS3AP38', 'score': 10.56}]
chr10	GH10I067763	67763062	67765648	1.28	[{'connected_gene': 'CTNNA3', 'score': 558.68}, {'connected_gene': 'TRS-TGA1-1', 'score': 550.77}, {'connected_gene': 'CCAR1', 'score': 29.23}, {'connected_gene': 'HNRNPH3', 'score': 24.68}, {'connected_gene': 'HERC4', 'score': 20.39}, {'connected_gene': 'SIRT1', 'score': 12.6}, {'connected_gene': 'RUFY2', 'score': 11.55}, {'connected_gene': 'RPL26P27', 'score': 10.98}, {'connected_gene': 'TET1', 'score': 10.03}]
chr10	GH10I068606	68606714	68607595	0.2	[{'connected_gene': 'KIF1BP', 'score': 5.11}, {'connected_gene': 'GC10P068600', 'score': 0.44}, {'connected_gene': 'COX20P1', 'score': 0.31}, {'connected_gene': 'TET1', 'score': 0.25}]
chr10	GH10I069343	69343933	69350450	1.08	[{'connected_gene': 'HK1', 'score': 15.81}, {'connected_gene': 'RUFY2', 'score': 13.57}, {'connected_gene': 'TET1', 'score': 12.37}, {'connected_gene': 'ENSG00000231748', 'score': 11.36}, {'connected_gene': 'ENSG00000260400', 'score': 11.11}, {'connected_gene': 'KIF1BP', 'score': 9.92}, {'connected_gene': 'RPL26P27', 'score': 5.5}, {'connected_gene': 'RPS15AP28', 'score': 0.25}, {'connected_gene': 'TACR2', 'score': 0.2}]
chr10	GH10I067855	67855600	67855852	1.06	[{'connected_gene': 'SIRT1', 'score': 24.86}, {'connected_gene': 'CCAR1', 'score': 17.15}, {'connected_gene': 'HNRNPH3', 'score': 14.53}, {'connected_gene': 'HERC4', 'score': 10.35}, {'connected_gene': 'TET1', 'score': 10.03}, {'connected_gene': 'GC10P067852', 'score': 0.77}, {'connected_gene': 'RNU6-523P', 'score': 0.77}]
chr10	GH10I067883	67883524	67886988	2.12	[{'connected_gene': 'SIRT1', 'score': 592.45}, {'connected_gene': 'HERC4', 'score': 33.72}, {'connected_gene': 'CCAR1', 'score': 23.43}, {'connected_gene': 'HNRNPH3', 'score': 14.32}, {'connected_gene': 'RPL12P8', 'score': 12.08}, {'connected_gene': 'TET1', 'score': 11.0}, {'connected_gene': 'RPS3AP38', 'score': 10.7}, {'connected_gene': 'RPL26P27', 'score': 9.8}, {'connected_gene': 'MYPN', 'score': 4.31}, {'connected_gene': 'GC10M067961', 'score': 0.18}]
chr10	GH10I068594	68594093	68594903	0.87	[{'connected_gene': 'STOX1', 'score': 13.09}, {'connected_gene': 'GC10P068600', 'score': 0.44}, {'connected_gene': 'TET1', 'score': 0.29}]
chr10	GH10I068684	68684564	68684713	0.38	[{'connected_gene': 'STOX1', 'score': 23.1}, {'connected_gene': 'CCAR1', 'score': 10.79}, {'connected_gene': 'MIR1254-1', 'score': 9.66}, {'connected_gene': 'GC10P068675', 'score': 0.39}, {'connected_gene': 'ENSG00000260400', 'score': 0.39}, {'connected_gene': 'TET1', 'score': 0.13}]
chr10	GH10I068647	68647276	68649147	0.79	[{'connected_gene': 'STOX1', 'score': 17.4}, {'connected_gene': 'CCAR1', 'score': 10.68}, {'connected_gene': 'MIR1254-1', 'score': 9.85}, {'connected_gene': 'GC10P068633', 'score': 0.37}, {'connected_gene': 'RPS3AP37', 'score': 0.31}, {'connected_gene': 'TET1', 'score': 0.17}]
chr10	GH10I068617	68617275	68619548	0.66	[{'connected_gene': 'STOX1', 'score': 9.84}, {'connected_gene': 'KIF1BP', 'score': 7.91}, {'connected_gene': 'DNA2', 'score': 5.76}, {'connected_gene': 'COX20P1', 'score': 0.39}, {'connected_gene': 'GC10P068600', 'score': 0.37}, {'connected_gene': 'TET1', 'score': 0.22}]
chr10	GH10I068665	68665650	68667356	0.66	[{'connected_gene': 'STOX1', 'score': 21.27}, {'connected_gene': 'RPS3AP37', 'score': 0.44}, {'connected_gene': 'GC10P068633', 'score': 0.29}, {'connected_gene': 'TET1', 'score': 0.14}]
chr10	GH10I068554	68554546	68555651	0.9	[{'connected_gene': 'DNA2', 'score': 18.27}, {'connected_gene': 'TET1', 'score': 0.44}, {'connected_gene': 'TMEM14DP', 'score': 0.39}]
chr10	GH10I068598	68598548	68602200	1.23	[{'connected_gene': 'GC10P068600', 'score': 550.77}, {'connected_gene': 'STOX1', 'score': 16.16}, {'connected_gene': 'TET1', 'score': 0.26}]
chr10	GH10I068630	68630552	68632542	0.57	[{'connected_gene': 'GC10P068633', 'score': 550.77}, {'connected_gene': 'COX20P1', 'score': 550.77}, {'connected_gene': 'CCAR1', 'score': 18.3}, {'connected_gene': 'STOX1', 'score': 16.74}, {'connected_gene': 'DDX50', 'score': 15.85}, {'connected_gene': 'SIRT1', 'score': 12.16}, {'connected_gene': 'HNRNPH3', 'score': 11.69}, {'connected_gene': 'HERC4', 'score': 11.29}, {'connected_gene': 'KIF1BP', 'score': 10.05}, {'connected_gene': 'ATOH7', 'score': 5.23}, {'connected_gene': 'MYPN', 'score': 4.95}, {'connected_gene': 'GC10P068600', 'score': 0.29}, {'connected_gene': 'TET1', 'score': 0.19}]