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
ENST00000468630	[[119421868, 119422069], [119425655, 119425732], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459650]]	None
ENST00000482573	[[119421868, 119422069], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749], [119469783, 119469945], [119483898, 119485949]]	[[119421945, 119422069], [119426250, 119426270]]
ENST00000273390	[[119421868, 119422069], [119425655, 119425732], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749], [119469783, 119469945], [119483898, 119485949]]	[[119421945, 119422069], [119425655, 119425732], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749]]
ENST00000463700	[[119421879, 119422069], [119425655, 119425732], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434781]]	[[119421945, 119422069], [119425655, 119425732], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434625]]
ENST00000482927	[[119421882, 119422118], [119425655, 119425732], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749], [119469783, 119469945], [119483898, 119484193]]	[[119421945, 119422113]]
ENST00000488533	[[119421890, 119422069], [119425655, 119425951]]	None
ENST00000469659	[[119421890, 119422069], [119425655, 119425732], [119426250, 119426408], [119427437, 119427521], [119428685, 119429208]]	None
ENST00000475093	[[119421897, 119422069], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749], [119469783, 119469945], [119483898, 119484133]]	[[119421945, 119422069], [119427437, 119427521], [119428685, 119428742], [119434408, 119434539]]
ENST00000483134	[[119424819, 119426408], [119427437, 119427521], [119428685, 119428742], [119431987, 119432109], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459650]]	None
ENST00000498167	[[119426355, 119426408], [119427456, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195]]	[[119426355, 119426408], [119427456, 119427521], [119428685, 119428742], [119434408, 119434539]]
ENST00000461322	[[119452215, 119452353], [119456212, 119456329], [119458101, 119458227]]	None
ENST00000470948	[[119466476, 119466551], [119466657, 119466749], [119469783, 119469945], [119483898, 119484123]]	None
ENST00000482995	[[119469289, 119469315], [119469783, 119469945], [119471147, 119471223], [119483898, 119484088]]	None
ENST00000472117	[[119469304, 119469446], [119469783, 119469945], [119483898, 119484543]]	None
ENST00000496010	[[119469310, 119469446], [119469783, 119469945], [119471147, 119471223], [119483898, 119484087]]	None
ENST00000475543	[[119469319, 119469467], [119469783, 119469945], [119483898, 119484433]]	None
NM_001320318	[[119421868, 119422069], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749], [119469783, 119469945], [119483898, 119485949]]	[[119427456, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749]]
NM_001320317	[[119421868, 119422069], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749], [119469783, 119469945], [119483898, 119485949]]	[[119422054, 119422069], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749]]
NM_033364	[[119421868, 119422069], [119425655, 119425732], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749], [119469783, 119469945], [119483898, 119485949]]	[[119421945, 119422069], [119425655, 119425732], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749]]
NM_001320316	[[119421868, 119422118], [119425655, 119425732], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749], [119469783, 119469945], [119483898, 119485949]]	[[119422054, 119422118], [119425655, 119425732], [119426250, 119426408], [119427437, 119427521], [119428685, 119428742], [119434408, 119434590], [119445017, 119445195], [119449066, 119449224], [119451140, 119451323], [119452210, 119452353], [119456212, 119456329], [119458101, 119458173], [119459395, 119459542], [119462821, 119463043], [119465961, 119466110], [119466657, 119466749]]

Promoter

Chrom	Start	End	Description
chr3	119421849	119421962	CAGE_peak_1_at_C3orf15_5end
chr3	119466528	119466536	CAGE_peak_4_at_C3orf15_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I119655	119655442	119656140	0.2	[{'connected_gene': 'CD80', 'score': 10.86}, {'connected_gene': 'MAATS1', 'score': 4.78}, {'connected_gene': 'PLA1A', 'score': 4.45}, {'connected_gene': 'POPDC2', 'score': 0.44}, {'connected_gene': 'RPL10P7', 'score': 0.37}, {'connected_gene': 'COX17', 'score': 0.34}]
chr3	GH03I119582	119582294	119582443	0.85	[{'connected_gene': 'CD80', 'score': 11.55}, {'connected_gene': 'MAATS1', 'score': 9.49}, {'connected_gene': 'ENSG00000272967', 'score': 0.77}, {'connected_gene': 'ADPRH', 'score': 0.77}, {'connected_gene': 'PLA1A', 'score': 0.37}]
chr3	GH03I119794	119794331	119797766	1.64	[{'connected_gene': 'MAATS1', 'score': 15.99}, {'connected_gene': 'ENSG00000239994', 'score': 10.39}, {'connected_gene': 'NR1I2', 'score': 6.73}, {'connected_gene': 'ARHGAP31', 'score': 4.85}, {'connected_gene': 'PHBP8', 'score': 0.77}, {'connected_gene': 'GC03P119973', 'score': 0.1}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3	GH03I119715	119715720	119718227	0.98	[{'connected_gene': 'MAATS1', 'score': 33.23}, {'connected_gene': 'ENSG00000239994', 'score': 12.33}, {'connected_gene': 'RPL10P7', 'score': 6.35}, {'connected_gene': 'PLA1A', 'score': 5.23}, {'connected_gene': 'LRRC58', 'score': 4.49}, {'connected_gene': 'NR1I2', 'score': 2.66}]
chr3	GH03I119786	119786166	119787290	0.84	[{'connected_gene': 'MAATS1', 'score': 18.24}, {'connected_gene': 'ENSG00000239994', 'score': 11.14}, {'connected_gene': 'RPL10P7', 'score': 6.02}, {'connected_gene': 'PHBP8', 'score': 0.44}, {'connected_gene': 'NR1I2', 'score': 0.44}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3	GH03I119651	119651738	119652872	0.51	[{'connected_gene': 'MAATS1', 'score': 19.31}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'RPL10P7', 'score': 5.18}, {'connected_gene': 'POPDC2', 'score': 0.39}]
chr3	GH03I119699	119699765	119701753	1	[{'connected_gene': 'MAATS1', 'score': 33.95}, {'connected_gene': 'ENSG00000239994', 'score': 10.38}, {'connected_gene': 'LRRC58', 'score': 5.25}, {'connected_gene': 'PLA1A', 'score': 5.13}, {'connected_gene': 'LOC105374064', 'score': 0.77}, {'connected_gene': 'PIR40954', 'score': 0.39}]
chr3	GH03I119702	119702494	119703543	1.75	[{'connected_gene': 'MAATS1', 'score': 583.95}, {'connected_gene': 'LOC105374064', 'score': 550.77}, {'connected_gene': 'LRRC58', 'score': 4.54}]
chr3	GH03I119669	119669903	119670706	0.31	[{'connected_gene': 'MAATS1', 'score': 9.88}, {'connected_gene': 'LOC105374063', 'score': 0.77}, {'connected_gene': 'COX17', 'score': 0.44}]
chr3	GH03I119679	119679507	119680351	0.56	[{'connected_gene': 'MAATS1', 'score': 9.45}, {'connected_gene': 'COX17', 'score': 0.77}, {'connected_gene': 'PIR40954', 'score': 0.44}]
chr3	GH03I119788	119788582	119790114	0.2	[{'connected_gene': 'MAATS1', 'score': 5.72}, {'connected_gene': 'PHBP8', 'score': 0.77}, {'connected_gene': 'NR1I2', 'score': 0.44}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3	GH03I119768	119768948	119771116	0.38	[{'connected_gene': 'MAATS1', 'score': 11.9}, {'connected_gene': 'PIR58327', 'score': 0.77}, {'connected_gene': 'ENSG00000239994', 'score': 0.37}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3	GH03I119779	119779889	119783931	1.46	[{'connected_gene': 'NR1I2', 'score': 550.77}, {'connected_gene': 'MAATS1', 'score': 16.37}, {'connected_gene': 'ENSG00000239994', 'score': 10.53}, {'connected_gene': 'PHBP8', 'score': 0.44}, {'connected_gene': 'GC03M119752', 'score': 0.06}]
chr3	GH03I119659	119659128	119663853	1.5	[{'connected_gene': 'POPDC2', 'score': 571.71}, {'connected_gene': 'RPL10P7', 'score': 13.77}, {'connected_gene': 'CD80', 'score': 10.14}, {'connected_gene': 'MAATS1', 'score': 9.85}, {'connected_gene': 'ARHGAP31', 'score': 6.01}, {'connected_gene': 'PLA1A', 'score': 4.44}, {'connected_gene': 'COX17', 'score': 0.37}]
chr3	GH03I119664	119664000	119665800	1.09	[{'connected_gene': 'POPDC2', 'score': 560.43}, {'connected_gene': 'LOC105374063', 'score': 550.77}, {'connected_gene': 'MAATS1', 'score': 9.39}, {'connected_gene': 'RPL10P7', 'score': 5.02}, {'connected_gene': 'COX17', 'score': 0.39}]
chr3	GH03I119656	119656194	119658738	0.54	[{'connected_gene': 'POPDC2', 'score': 21.68}, {'connected_gene': 'COX17', 'score': 18.32}, {'connected_gene': 'CD80', 'score': 10.86}, {'connected_gene': 'MAATS1', 'score': 9.84}, {'connected_gene': 'ADPRH', 'score': 5.1}, {'connected_gene': 'RPL10P7', 'score': 5.05}, {'connected_gene': 'PLA1A', 'score': 4.26}]
chr3	GH03I119742	119742322	119742488	0.35	[{'connected_gene': 'ARHGAP31', 'score': 7.06}, {'connected_gene': 'ADPRH', 'score': 6.75}, {'connected_gene': 'COX17', 'score': 1.88}, {'connected_gene': 'CD80', 'score': 1.6}, {'connected_gene': 'GSK3B', 'score': 1.45}, {'connected_gene': 'ENSG00000239994', 'score': 0.44}, {'connected_gene': 'MAATS1', 'score': 0.28}]
chr3	GH03I119497	119497379	119501067	2.05	[{'connected_gene': 'TIMMDC1', 'score': 556.72}, {'connected_gene': 'PIR33513', 'score': 550.77}, {'connected_gene': 'GC03P119501', 'score': 550.77}, {'connected_gene': 'ENSG00000272662', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 39.23}, {'connected_gene': 'CD80', 'score': 11.47}, {'connected_gene': 'TMEM39A', 'score': 11.32}, {'connected_gene': 'ADPRH', 'score': 10.97}, {'connected_gene': 'POPDC2', 'score': 10.54}, {'connected_gene': 'MAATS1', 'score': 9.67}, {'connected_gene': 'IGSF11', 'score': 3.96}, {'connected_gene': 'CSRP2P1', 'score': 0.29}]
chr3	GH03I119672	119672696	119675085	0.31	[{'connected_gene': 'RPL10P7', 'score': 16.63}, {'connected_gene': 'MAATS1', 'score': 12.76}, {'connected_gene': 'COX17', 'score': 12.3}, {'connected_gene': 'PLA1A', 'score': 11.41}, {'connected_gene': 'LOC105374063', 'score': 0.44}]
chr3	GH03I119652	119651068	119651376	0.61	[{'connected_gene': 'RPL10P7', 'score': 15.02}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.2}, {'connected_gene': 'NR1I2', 'score': 7.26}, {'connected_gene': 'POPDC2', 'score': 0.39}]
chr3	GH03I119635	119635913	119640405	1.77	[{'connected_gene': 'RPL10P7', 'score': 566.9}, {'connected_gene': 'ADPRH', 'score': 16.22}, {'connected_gene': 'COX17', 'score': 12.37}, {'connected_gene': 'ARHGAP31', 'score': 11.64}, {'connected_gene': 'MAATS1', 'score': 9.8}, {'connected_gene': 'PLA1A', 'score': 4.5}, {'connected_gene': 'GSK3B', 'score': 2.07}, {'connected_gene': 'GC03M119637', 'score': 0.77}, {'connected_gene': 'POPDC2', 'score': 0.31}]
chr3	GH03I119649	119649987	119650358	0.75	[{'connected_gene': 'ADPRH', 'score': 17.06}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.2}, {'connected_gene': 'NR1I2', 'score': 1.72}, {'connected_gene': 'RPL10P7', 'score': 0.39}, {'connected_gene': 'POPDC2', 'score': 0.37}]
chr3	GH03I119578	119578638	119581053	2.07	[{'connected_gene': 'ADPRH', 'score': 571.02}, {'connected_gene': 'ENSG00000272967', 'score': 550.77}, {'connected_gene': 'CD80', 'score': 17.36}, {'connected_gene': 'MAATS1', 'score': 9.49}, {'connected_gene': 'PLA1A', 'score': 0.37}]
chr3	GH03I119626	119626787	119631999	1.5	[{'connected_gene': 'ADPRH', 'score': 32.83}, {'connected_gene': 'MAATS1', 'score': 19.08}, {'connected_gene': 'RPL10P7', 'score': 16.7}, {'connected_gene': 'COX17', 'score': 13.97}, {'connected_gene': 'CD80', 'score': 12.06}, {'connected_gene': 'POPDC2', 'score': 11.76}, {'connected_gene': 'ARHGAP31', 'score': 11.07}, {'connected_gene': 'PLA1A', 'score': 5.9}, {'connected_gene': 'GPR156', 'score': 5.1}, {'connected_gene': 'GSK3B', 'score': 1.98}, {'connected_gene': 'GC03M119637', 'score': 0.44}, {'connected_gene': 'LOC105374062', 'score': 0.34}]
chr3	GH03I119627	119626334	119626547	0.44	[{'connected_gene': 'ADPRH', 'score': 19.09}, {'connected_gene': 'POPDC2', 'score': 11.76}, {'connected_gene': 'CD80', 'score': 10.96}, {'connected_gene': 'MAATS1', 'score': 9.77}, {'connected_gene': 'PLA1A', 'score': 5.57}, {'connected_gene': 'ARHGAP31', 'score': 5.12}, {'connected_gene': 'GSK3B', 'score': 1.45}, {'connected_gene': 'GC03M119637', 'score': 0.44}, {'connected_gene': 'LOC105374062', 'score': 0.34}]
chr3	GH03I119675	119675594	119678214	2.23	[{'connected_gene': 'COX17', 'score': 565.02}, {'connected_gene': 'MAATS1', 'score': 20.23}, {'connected_gene': 'POPDC2', 'score': 12.21}, {'connected_gene': 'CD80', 'score': 11.0}, {'connected_gene': 'LOC105374063', 'score': 0.39}]
chr3	GH03I119654	119653180	119653499	0.2	[{'connected_gene': 'COX17', 'score': 11.81}, {'connected_gene': 'ADPRH', 'score': 11.62}, {'connected_gene': 'CD80', 'score': 10.71}, {'connected_gene': 'MAATS1', 'score': 10.21}, {'connected_gene': 'POPDC2', 'score': 0.39}, {'connected_gene': 'RPL10P7', 'score': 0.37}]
chr3	GH03I119653	119653655	119655195	0.2	[{'connected_gene': 'COX17', 'score': 18.29}, {'connected_gene': 'ADPRH', 'score': 11.61}, {'connected_gene': 'CD80', 'score': 10.86}, {'connected_gene': 'MAATS1', 'score': 10.21}, {'connected_gene': 'PLA1A', 'score': 4.46}, {'connected_gene': 'POPDC2', 'score': 0.39}, {'connected_gene': 'RPL10P7', 'score': 0.37}]
chr3	GH03I120347	120347723	120351131	2.04	[{'connected_gene': 'LOC100130701', 'score': 575.85}, {'connected_gene': 'LRRC58', 'score': 550.77}, {'connected_gene': 'GPR156', 'score': 18.99}, {'connected_gene': 'TMEM39A', 'score': 11.91}, {'connected_gene': 'MAATS1', 'score': 10.11}, {'connected_gene': 'LOC442087', 'score': 5.63}]