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
ENST00000302558	[[113127668, 113127789], [113135629, 113135831], [113138400, 113138540], [113145600, 113147824], [113148551, 113148646], [113152194, 113152330], [113155498, 113155582], [113155675, 113155855], [113156799, 113156946], [113157208, 113157346], [113157612, 113157771], [113158693, 113158817], [113158984, 113159160], [113159243, 113159425], [113161542, 113161752], [113163873, 113163961], [113170007, 113170203], [113174769, 113174915], [113175260, 113175491], [113179536, 113179689], [113180124, 113180236], [113181816, 113181884], [113190958, 113191222]]	[[113127754, 113127789], [113135629, 113135831], [113138400, 113138540], [113145600, 113147824], [113148551, 113148646], [113152194, 113152330], [113155498, 113155582], [113155675, 113155855], [113156799, 113156946], [113157208, 113157346], [113157612, 113157771], [113158693, 113158817], [113158984, 113159160], [113159243, 113159425], [113161542, 113161752], [113163873, 113163961], [113170007, 113170203], [113174769, 113174915], [113175260, 113175491], [113179536, 113179689], [113180124, 113180236], [113181816, 113181884], [113190958, 113191030]]
ENST00000409750	[[113127668, 113127789], [113135629, 113135831], [113138400, 113138540], [113145600, 113147824], [113148551, 113148646], [113152194, 113152330], [113155498, 113155582], [113155675, 113155855], [113156799, 113156946], [113157208, 113157346], [113157612, 113157771], [113158693, 113158817], [113158984, 113159160], [113159243, 113159425], [113161542, 113161752], [113163873, 113163961], [113175260, 113175491], [113179536, 113179689], [113180124, 113180236], [113181816, 113181884], [113191198, 113191331], [113191624, 113192065]]	[[113127754, 113127789], [113135629, 113135831], [113138400, 113138540], [113145600, 113147824], [113148551, 113148646], [113152194, 113152330], [113155498, 113155582], [113155675, 113155855], [113156799, 113156946], [113157208, 113157346], [113157612, 113157771], [113158693, 113158817], [113158984, 113159160], [113159243, 113159425], [113161542, 113161752], [113163873, 113163961], [113175260, 113175491], [113179536, 113179689], [113180124, 113180236], [113181816, 113181878]]
ENST00000522286	[[113147726, 113147824], [113148551, 113148646], [113152194, 113152330], [113155498, 113155582], [113155675, 113155855], [113156799, 113156946], [113157208, 113157346], [113157612, 113157771], [113158693, 113158837], [113158984, 113159160], [113159243, 113159425], [113161542, 113161607], [113163873, 113163961], [113170007, 113170203], [113175260, 113175491], [113179536, 113179596]]	[[113170197, 113170203], [113175260, 113175491], [113179536, 113179596]]
ENST00000330575	[[113150627, 113150796], [113152194, 113152330], [113155498, 113155582], [113155675, 113155855], [113156799, 113156946], [113157208, 113157346], [113157612, 113157771], [113158693, 113158817], [113158984, 113159160], [113159243, 113159425], [113161542, 113161752], [113163873, 113163961], [113170007, 113170203], [113174769, 113174915], [113175260, 113175491], [113179536, 113179689], [113180124, 113180236], [113181816, 113181884], [113190958, 113191107]]	[[113150683, 113150796], [113152194, 113152330], [113155498, 113155582], [113155675, 113155855], [113156799, 113156946], [113157208, 113157346], [113157612, 113157771], [113158693, 113158817], [113158984, 113159160], [113159243, 113159425], [113161542, 113161752], [113163873, 113163961], [113170007, 113170203], [113174769, 113174915], [113175260, 113175491], [113179536, 113179689], [113180124, 113180236], [113181816, 113181884], [113190958, 113191030]]
ENST00000482903	[[113157671, 113157771], [113158693, 113159137]]	None
ENST00000496537	[[113175353, 113175491], [113179536, 113179689], [113180124, 113180236], [113190958, 113191096]]	[[113175353, 113175491], [113179536, 113179689], [113180124, 113180236], [113190958, 113191011]]
ENST00000471422	[[113179112, 113179689], [113180124, 113180193]]	None
NM_001164463	[[113125945, 113127789], [113135629, 113135831], [113138400, 113138540], [113145600, 113147824], [113148551, 113148646], [113152194, 113152330], [113155498, 113155582], [113155675, 113155855], [113156799, 113156946], [113157208, 113157346], [113157612, 113157771], [113158693, 113158817], [113158984, 113159160], [113159243, 113159425], [113161542, 113161752], [113163873, 113163961], [113170007, 113170203], [113174769, 113174915], [113175260, 113175491], [113179536, 113179689], [113180124, 113180236], [113181816, 113181884], [113190958, 113191222]]	[[113127754, 113127789], [113135629, 113135831], [113138400, 113138540], [113145600, 113147824], [113148551, 113148646], [113152194, 113152330], [113155498, 113155582], [113155675, 113155855], [113156799, 113156946], [113157208, 113157346], [113157612, 113157771], [113158693, 113158817], [113158984, 113159160], [113159243, 113159425], [113161542, 113161752], [113163873, 113163961], [113170007, 113170203], [113174769, 113174915], [113175260, 113175491], [113179536, 113179689], [113180124, 113180236], [113181816, 113181884], [113190958, 113191030]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr2	GH02I112091	112091985	112093945	0.43	[{'connected_gene': 'TMEM87B', 'score': 11.89}, {'connected_gene': 'ZC3H6', 'score': 10.7}, {'connected_gene': 'MERTK', 'score': 8.37}, {'connected_gene': 'RGPD8', 'score': 4.49}, {'connected_gene': 'LOC105373560', 'score': 0.31}, {'connected_gene': 'GC02P113650', 'score': 0.29}]
chr2	GH02I112053	112053336	112058617	2.75	[{'connected_gene': 'TMEM87B', 'score': 566.9}, {'connected_gene': 'GC02M112043', 'score': 550.77}, {'connected_gene': 'MERTK', 'score': 17.78}, {'connected_gene': 'POLR1B', 'score': 15.17}, {'connected_gene': 'RGPD8', 'score': 8.21}, {'connected_gene': 'CKAP2L', 'score': 4.93}, {'connected_gene': 'ZC3H6', 'score': 1.7}]
chr2	GH02I112582	112582587	112585847	2.33	[{'connected_gene': 'CHCHD5', 'score': 563.98}, {'connected_gene': 'PIR48157', 'score': 550.77}, {'connected_gene': 'GC02M112581', 'score': 550.77}, {'connected_gene': 'LOC101927330', 'score': 550.77}, {'connected_gene': 'POLR1B', 'score': 35.22}, {'connected_gene': 'TMEM87B', 'score': 22.1}, {'connected_gene': 'RPS20P11', 'score': 20.78}, {'connected_gene': 'ANAPC1', 'score': 12.36}, {'connected_gene': 'RGPD8', 'score': 8.98}, {'connected_gene': 'ZC3H6', 'score': 4.26}]
chr2	GH02I112541	112541120	112544038	2.09	[{'connected_gene': 'POLR1B', 'score': 601.99}, {'connected_gene': 'LOC105373562', 'score': 550.77}, {'connected_gene': 'CHCHD5', 'score': 24.79}, {'connected_gene': 'ANAPC1', 'score': 20.56}, {'connected_gene': 'RGPD8', 'score': 14.24}, {'connected_gene': 'RPS20P11', 'score': 11.87}, {'connected_gene': 'TMEM87B', 'score': 11.46}, {'connected_gene': 'ENSG00000207383', 'score': 11.15}, {'connected_gene': 'ENSG00000243389', 'score': 11.12}, {'connected_gene': 'ZC3H8', 'score': 11.09}, {'connected_gene': 'PIR56853', 'score': 0.28}, {'connected_gene': 'TTL', 'score': 0.21}]
chr2	GH02I112257	112257800	112258000	0.49	[{'connected_gene': 'RGPD8', 'score': 6.23}, {'connected_gene': 'ZC3H8', 'score': 0.77}, {'connected_gene': 'ZC3H6', 'score': 0.37}]
chr2	GH02I112493	112493414	112494917	0.67	[{'connected_gene': 'RGPD8', 'score': 20.42}, {'connected_gene': 'POLR1B', 'score': 16.31}, {'connected_gene': 'CHCHD5', 'score': 9.8}, {'connected_gene': 'IL37', 'score': 9.09}, {'connected_gene': 'TTL', 'score': 0.39}]
chr2	GH02I112599	112599794	112601058	1.14	[{'connected_gene': 'RGPD8', 'score': 11.53}, {'connected_gene': 'SLC20A1', 'score': 11.41}, {'connected_gene': 'FLJ42351', 'score': 11.41}, {'connected_gene': 'GC02P113653', 'score': 0.77}, {'connected_gene': 'GC02P113648', 'score': 0.44}, {'connected_gene': 'ENSG00000243389', 'score': 0.39}]
chr2	GH02I112271	112271832	112273834	0.88	[{'connected_gene': 'RGPD8', 'score': 6.28}, {'connected_gene': 'ZC3H6', 'score': 0.77}, {'connected_gene': 'ZC3H8', 'score': 0.37}]
chr2	GH02I112251	112251421	112251706	0.35	[{'connected_gene': 'RGPD8', 'score': 20.86}, {'connected_gene': 'ZC3H6', 'score': 1.66}, {'connected_gene': 'ZC3H8', 'score': 0.77}, {'connected_gene': 'PIR62235', 'score': 0.31}]
chr2	GH02I112340	112340013	112340937	0.2	[{'connected_gene': 'RGPD8', 'score': 17.4}, {'connected_gene': 'ZC3H6', 'score': 10.82}, {'connected_gene': 'CHCHD5', 'score': 4.41}, {'connected_gene': 'LOC100418696', 'score': 0.44}, {'connected_gene': 'GC02P113641', 'score': 0.44}, {'connected_gene': 'PIR52770', 'score': 0.37}]
chr2	GH02I112431	112431800	112434253	1.8	[{'connected_gene': 'RGPD8', 'score': 603.82}, {'connected_gene': 'ZC3H6', 'score': 11.55}, {'connected_gene': 'ENSG00000207383', 'score': 10.48}, {'connected_gene': 'CHCHD5', 'score': 10.47}, {'connected_gene': 'ENSG00000243389', 'score': 10.47}, {'connected_gene': 'GC02M112369', 'score': 0.21}]
chr2	GH02I112300	112300724	112302570	0.83	[{'connected_gene': 'RGPD8', 'score': 17.34}, {'connected_gene': 'ZC3H6', 'score': 16.07}, {'connected_gene': 'NDUFB4P6', 'score': 0.37}, {'connected_gene': 'PIR52770', 'score': 0.34}]
chr2	GH02I112173	112173164	112174562	0.46	[{'connected_gene': 'RGPD8', 'score': 7.72}, {'connected_gene': 'ENSG00000278962', 'score': 0.39}, {'connected_gene': 'FBLN7', 'score': 0.28}]
chr2	GH02I112181	112181430	112183994	0.86	[{'connected_gene': 'RGPD8', 'score': 8.32}, {'connected_gene': 'MERTK', 'score': 6.4}, {'connected_gene': 'POLR1B', 'score': 6.24}, {'connected_gene': 'ENSG00000278962', 'score': 0.44}, {'connected_gene': 'FBLN7', 'score': 0.26}]
chr2	GH02I111434	111434402	111446399	0.95	[{'connected_gene': 'ANAPC1', 'score': 16.27}, {'connected_gene': 'RGPD6', 'score': 14.13}, {'connected_gene': 'RGPD8', 'score': 11.18}, {'connected_gene': 'ZC3H6', 'score': 10.33}, {'connected_gene': 'TMEM87B', 'score': 10.08}, {'connected_gene': 'GC02P113652', 'score': 0.39}, {'connected_gene': 'ENSG00000280878', 'score': 0.31}, {'connected_gene': 'MIR4435-2HG', 'score': 0.23}]
chr2	GH02I112724	112724800	112727473	1.21	[{'connected_gene': 'ANAPC1', 'score': 12.36}, {'connected_gene': 'SLC20A1', 'score': 11.95}, {'connected_gene': 'FLJ42351', 'score': 11.95}, {'connected_gene': 'RPS20P11', 'score': 11.84}, {'connected_gene': 'ENSG00000243389', 'score': 11.49}, {'connected_gene': 'ENSG00000207383', 'score': 11.48}, {'connected_gene': 'CHCHD5', 'score': 11.48}, {'connected_gene': 'TMEM87B', 'score': 11.44}, {'connected_gene': 'IL1B', 'score': 11.33}, {'connected_gene': 'CKAP2L', 'score': 10.34}, {'connected_gene': 'IL37', 'score': 10.23}, {'connected_gene': 'NT5DC4', 'score': 6.9}, {'connected_gene': 'RGPD8', 'score': 4.49}, {'connected_gene': 'GC02P113658', 'score': 0.37}]
chr2	GH02I112682	112682219	112685839	1.36	[{'connected_gene': 'FLJ42351', 'score': 18.91}, {'connected_gene': 'NT5DC4', 'score': 13.05}, {'connected_gene': 'SLC20A1', 'score': 12.83}, {'connected_gene': 'ANAPC1', 'score': 11.12}, {'connected_gene': 'ENSG00000243389', 'score': 10.88}, {'connected_gene': 'CHCHD5', 'score': 10.87}, {'connected_gene': 'ENSG00000207383', 'score': 10.87}, {'connected_gene': 'IL37', 'score': 9.76}, {'connected_gene': 'RGPD8', 'score': 4.34}, {'connected_gene': 'LOC102724955', 'score': 0.44}]
chr2	GH02I112438	112438001	112438200	0.2	[{'connected_gene': 'ZC3H6', 'score': 11.54}, {'connected_gene': 'CHCHD5', 'score': 10.48}, {'connected_gene': 'ENSG00000207383', 'score': 10.48}, {'connected_gene': 'ENSG00000243389', 'score': 10.47}, {'connected_gene': 'RGPD8', 'score': 0.77}, {'connected_gene': 'ENSG00000283698', 'score': 0.29}]
chr2	GH02I112432	112431001	112431200	0.2	[{'connected_gene': 'ZC3H6', 'score': 11.55}, {'connected_gene': 'ENSG00000207383', 'score': 10.48}, {'connected_gene': 'CHCHD5', 'score': 10.47}, {'connected_gene': 'ENSG00000243389', 'score': 10.47}, {'connected_gene': 'RGPD8', 'score': 0.77}, {'connected_gene': 'GC02M112369', 'score': 0.21}]
chr2	GH02I112274	112274501	112277134	2.13	[{'connected_gene': 'ZC3H6', 'score': 561.68}, {'connected_gene': 'RGPD8', 'score': 26.79}, {'connected_gene': 'ANAPC1', 'score': 24.37}, {'connected_gene': 'POLR1B', 'score': 14.94}, {'connected_gene': 'RPS20P11', 'score': 10.2}, {'connected_gene': 'NDUFB4P6', 'score': 0.39}]
chr2	GH02I112149	112149208	112151619	0.86	[{'connected_gene': 'ZC3H6', 'score': 11.41}, {'connected_gene': 'FBLN7', 'score': 10.79}, {'connected_gene': 'TMEM87B', 'score': 7.59}, {'connected_gene': 'RGPD8', 'score': 5.29}, {'connected_gene': 'ENSG00000278962', 'score': 0.28}]
chr2	GH02I112867	112867432	112871048	1.38	[{'connected_gene': 'IL1B', 'score': 26.0}, {'connected_gene': 'WASH2P', 'score': 23.05}, {'connected_gene': 'IL1A', 'score': 20.83}, {'connected_gene': 'RABL2A', 'score': 16.67}, {'connected_gene': 'IL37', 'score': 15.92}, {'connected_gene': 'RGPD8', 'score': 12.95}, {'connected_gene': 'CKAP2L', 'score': 11.05}, {'connected_gene': 'ZC3H8', 'score': 10.53}, {'connected_gene': 'PIR40727', 'score': 0.39}, {'connected_gene': 'XIAPP3', 'score': 0.37}]
chr2	GH02I112792	112792576	112796958	1.74	[{'connected_gene': 'IL1B', 'score': 58.89}, {'connected_gene': 'IL1RN', 'score': 30.46}, {'connected_gene': 'ANAPC1', 'score': 16.25}, {'connected_gene': 'IL1A', 'score': 15.77}, {'connected_gene': 'CKAP2L', 'score': 12.04}, {'connected_gene': 'CBWD2', 'score': 11.28}, {'connected_gene': 'RGPD8', 'score': 11.21}, {'connected_gene': 'IL36G', 'score': 11.02}, {'connected_gene': 'ZC3H6', 'score': 10.33}, {'connected_gene': 'TMEM87B', 'score': 10.08}, {'connected_gene': 'IL36B', 'score': 7.97}, {'connected_gene': 'FLJ42351', 'score': 4.25}, {'connected_gene': 'IL36RN', 'score': 1.22}, {'connected_gene': 'GC02M112788', 'score': 0.44}, {'connected_gene': 'GC02P113658', 'score': 0.23}]
chr2	GH02I113164	113164695	113170046	1.64	[{'connected_gene': 'PSD4', 'score': 20.67}, {'connected_gene': 'RABL2A', 'score': 11.07}, {'connected_gene': 'PAX8-AS1', 'score': 10.96}, {'connected_gene': 'RGPD8', 'score': 10.66}, {'connected_gene': 'RNU6-1180P', 'score': 10.45}, {'connected_gene': 'ZC3H6', 'score': 10.16}, {'connected_gene': 'IL1RN', 'score': 5.29}, {'connected_gene': 'IL1B', 'score': 3.93}, {'connected_gene': 'IL1A', 'score': 3.57}, {'connected_gene': 'IL36B', 'score': 2.1}, {'connected_gene': 'IL36G', 'score': 1.76}, {'connected_gene': 'CBWD2', 'score': 1.26}, {'connected_gene': 'ENSG00000234174', 'score': 0.44}]
chr2	GH02I112762	112762481	112765802	2.02	[{'connected_gene': 'CKAP2L', 'score': 550.77}, {'connected_gene': 'ANAPC1', 'score': 32.76}, {'connected_gene': 'POLR1B', 'score': 25.63}, {'connected_gene': 'RGPD8', 'score': 12.29}, {'connected_gene': 'ENSG00000227359', 'score': 10.4}, {'connected_gene': 'PSD4', 'score': 6.06}, {'connected_gene': 'IL1A', 'score': 5.54}, {'connected_gene': 'NT5DC4', 'score': 5.0}, {'connected_gene': 'FLJ42351', 'score': 4.16}, {'connected_gene': 'GC02P113658', 'score': 0.34}]
chr2	GH02I112480	112480470	112484153	2.04	[{'connected_gene': 'TTL', 'score': 556.33}, {'connected_gene': 'RGPD8', 'score': 31.52}, {'connected_gene': 'POLR1B', 'score': 11.37}, {'connected_gene': 'ENSG00000207383', 'score': 10.98}, {'connected_gene': 'CHCHD5', 'score': 10.97}, {'connected_gene': 'ENSG00000243389', 'score': 10.97}]
chr2	GH02I112154	112154552	112157180	0.96	[{'connected_gene': 'FBLN7', 'score': 13.88}, {'connected_gene': 'RGPD8', 'score': 8.95}, {'connected_gene': 'MERTK', 'score': 7.98}, {'connected_gene': 'TMEM87B', 'score': 7.6}, {'connected_gene': 'ENSG00000278962', 'score': 0.29}]
chr2	GH02I112137	112137377	112139801	1.7	[{'connected_gene': 'FBLN7', 'score': 566.19}, {'connected_gene': 'RGPD8', 'score': 9.08}, {'connected_gene': 'ENSG00000278962', 'score': 0.25}]
chr2	GH02I112064	112064672	112066677	0.49	[{'connected_gene': 'LOC105373560', 'score': 550.77}, {'connected_gene': 'MERTK', 'score': 16.34}, {'connected_gene': 'TMEM87B', 'score': 15.41}, {'connected_gene': 'RGPD8', 'score': 12.07}, {'connected_gene': 'GC02P113650', 'score': 0.22}]
chr2	GH02I111897	111897429	111901193	2.03	[{'connected_gene': 'MERTK', 'score': 569.67}, {'connected_gene': 'TMEM87B', 'score': 22.14}, {'connected_gene': 'RGPD8', 'score': 20.81}, {'connected_gene': 'ZC3H6', 'score': 19.52}, {'connected_gene': 'ANAPC1', 'score': 14.59}, {'connected_gene': 'POLR1B', 'score': 10.96}, {'connected_gene': 'FBLN7', 'score': 5.65}, {'connected_gene': 'RN7SL297P', 'score': 0.29}]
chr2	GH02I112040	112040057	112043811	0.72	[{'connected_gene': 'MERTK', 'score': 16.65}, {'connected_gene': 'TMEM87B', 'score': 11.31}, {'connected_gene': 'RGPD8', 'score': 8.04}, {'connected_gene': 'CKAP2L', 'score': 4.92}, {'connected_gene': 'GC02M112043', 'score': 0.39}, {'connected_gene': 'LOC100422091', 'score': 0.17}]
chr2	GH02I112587	112587309	112589305	0.6	[{'connected_gene': 'ENSG00000243389', 'score': 556.66}, {'connected_gene': 'PIR60450', 'score': 550.77}, {'connected_gene': 'CHCHD5', 'score': 12.78}, {'connected_gene': 'SLC20A1', 'score': 11.56}, {'connected_gene': 'FLJ42351', 'score': 11.56}, {'connected_gene': 'RGPD8', 'score': 9.24}, {'connected_gene': 'PIR48157', 'score': 0.77}]
chr2	GH02I112186	112186650	112189560	1.3	[{'connected_gene': 'ENSG00000278962', 'score': 550.77}, {'connected_gene': 'RGPD8', 'score': 33.69}, {'connected_gene': 'ZC3H6', 'score': 11.13}, {'connected_gene': 'FBLN7', 'score': 0.25}]
chr2	GH02I112590	112590251	112592452	0.64	[{'connected_gene': 'PIR60450', 'score': 550.77}, {'connected_gene': 'ENSG00000228251', 'score': 550.77}, {'connected_gene': 'SLC20A1', 'score': 11.57}, {'connected_gene': 'FLJ42351', 'score': 11.57}, {'connected_gene': 'IL1B', 'score': 9.71}, {'connected_gene': 'RGPD8', 'score': 9.56}, {'connected_gene': 'GC02P113653', 'score': 0.77}, {'connected_gene': 'ENSG00000243389', 'score': 0.77}]