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
ENST00000261233	[[66582658, 66583212], [66597490, 66597673], [66603235, 66603300], [66603926, 66603981], [66605225, 66605377], [66610950, 66611015], [66620502, 66620617], [66622031, 66622150], [66638265, 66638464], [66638727, 66638790], [66638877, 66639042], [66641474, 66648402]]	[[66583079, 66583212], [66597490, 66597673], [66603235, 66603300], [66603926, 66603981], [66605225, 66605377], [66610950, 66611015], [66620502, 66620617], [66622031, 66622150], [66638265, 66638464], [66638727, 66638790], [66638877, 66639042], [66641474, 66641951]]
ENST00000545837	[[66582974, 66583212], [66590659, 66592000]]	[[66583079, 66583212], [66590659, 66590808]]
ENST00000457197	[[66583036, 66583212], [66603235, 66603300], [66603926, 66603981], [66605225, 66605377], [66610950, 66611015], [66620502, 66620617], [66622031, 66622150], [66638265, 66638464], [66638727, 66638790], [66638877, 66639042], [66641474, 66642153]]	[[66583079, 66583212], [66603235, 66603300], [66603926, 66603981], [66605225, 66605377], [66610950, 66611015], [66620502, 66620617], [66622031, 66622150], [66638265, 66638464], [66638727, 66638790], [66638877, 66639042], [66641474, 66641951]]
NM_001142523	[[66582977, 66583212], [66603235, 66603300], [66603926, 66603981], [66605225, 66605377], [66610950, 66611015], [66620502, 66620617], [66622031, 66622150], [66638265, 66638464], [66638727, 66638790], [66638877, 66639042], [66641474, 66648402]]	[[66583079, 66583212], [66603235, 66603300], [66603926, 66603981], [66605225, 66605377], [66610950, 66611015], [66620502, 66620617], [66622031, 66622150], [66638265, 66638464], [66638727, 66638790], [66638877, 66639042], [66641474, 66641951]]
NM_007199	[[66582977, 66583212], [66597490, 66597673], [66603235, 66603300], [66603926, 66603981], [66605225, 66605377], [66610950, 66611015], [66620502, 66620617], [66622031, 66622150], [66638265, 66638464], [66638727, 66638790], [66638877, 66639042], [66641474, 66648402]]	[[66583079, 66583212], [66597490, 66597673], [66603235, 66603300], [66603926, 66603981], [66605225, 66605377], [66610950, 66611015], [66620502, 66620617], [66622031, 66622150], [66638265, 66638464], [66638727, 66638790], [66638877, 66639042], [66641474, 66641951]]

Promoter

Chrom	Start	End	Description
chr12	66582919	66583077	CAGE_peak_1_at_IRAK3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I066267	66267601	66270106	1.21	[{'connected_gene': 'HELB', 'score': 29.86}, {'connected_gene': 'IRAK3', 'score': 26.24}, {'connected_gene': 'TMBIM4', 'score': 3.84}, {'connected_gene': 'PDCL3P7', 'score': 0.44}, {'connected_gene': 'ENSG00000256072', 'score': 0.39}]
chr12	GH12I066234	66234512	66236201	1.86	[{'connected_gene': 'RBMS1P1', 'score': 550.77}, {'connected_gene': 'IRAK3', 'score': 21.81}, {'connected_gene': 'TMBIM4', 'score': 14.06}, {'connected_gene': 'ENSG00000228144', 'score': 11.72}, {'connected_gene': 'HELB', 'score': 11.41}, {'connected_gene': 'ENSG00000256072', 'score': 11.38}, {'connected_gene': 'LLPH-AS1', 'score': 10.32}, {'connected_gene': 'LLPH', 'score': 10.32}, {'connected_gene': 'MIR6502', 'score': 0.37}]
chr12	GH12I066235	66234101	66234270	1.04	[{'connected_gene': 'RBMS1P1', 'score': 550.77}, {'connected_gene': 'IRAK3', 'score': 12.46}, {'connected_gene': 'TMBIM4', 'score': 11.73}, {'connected_gene': 'ENSG00000228144', 'score': 11.73}, {'connected_gene': 'ENSG00000256072', 'score': 11.38}, {'connected_gene': 'LLPH-AS1', 'score': 10.32}, {'connected_gene': 'LLPH', 'score': 10.32}, {'connected_gene': 'HELB', 'score': 10.3}, {'connected_gene': 'PIR44949', 'score': 0.44}]
chr12	GH12I066240	66240001	66242400	0.97	[{'connected_gene': 'IRAK3', 'score': 18.27}, {'connected_gene': 'HELB', 'score': 10.93}, {'connected_gene': 'LLPH-AS1', 'score': 6.58}, {'connected_gene': 'MIR6502', 'score': 0.44}, {'connected_gene': 'RBMS1P1', 'score': 0.44}]
chr12	GH12I065694	65694533	65697022	1.42	[{'connected_gene': 'IRAK3', 'score': 5.76}, {'connected_gene': 'GC12M065700', 'score': 0.44}, {'connected_gene': 'PCNPP3', 'score': 0.25}]
chr12	GH12I066204	66204314	66205638	0.2	[{'connected_gene': 'IRAK3', 'score': 7.42}, {'connected_gene': 'TMBIM4', 'score': 6.46}, {'connected_gene': 'PIR44949', 'score': 0.34}]
chr12	GH12I066186	66186992	66191814	2.29	[{'connected_gene': 'IRAK3', 'score': 591.97}, {'connected_gene': 'LLPH-AS1', 'score': 30.74}, {'connected_gene': 'LLPH', 'score': 10.32}, {'connected_gene': 'ENSG00000256072', 'score': 9.84}, {'connected_gene': 'TMBIM4', 'score': 2.38}, {'connected_gene': 'HELB', 'score': 1.22}, {'connected_gene': 'PIR44949', 'score': 0.28}]
chr12	GH12I065923	65923212	65923542	0.62	[{'connected_gene': 'IRAK3', 'score': 17.28}, {'connected_gene': 'ENSG00000256083', 'score': 12.01}, {'connected_gene': 'LOC100129940', 'score': 11.52}, {'connected_gene': 'HMGA2', 'score': 10.44}, {'connected_gene': 'RPSAP52', 'score': 10.44}, {'connected_gene': 'GC12P065889', 'score': 0.29}]
chr12	GH12I066217	66217421	66217570	0.4	[{'connected_gene': 'IRAK3', 'score': 11.77}, {'connected_gene': 'ENSG00000256072', 'score': 10.28}, {'connected_gene': 'PIR44949', 'score': 0.44}]
chr12	GH12I066213	66213127	66213392	0.31	[{'connected_gene': 'IRAK3', 'score': 19.78}, {'connected_gene': 'PIR44949', 'score': 0.39}]
chr12	GH12I066191	66191841	66191885	0.58	[{'connected_gene': 'LLPH-AS1', 'score': 10.51}, {'connected_gene': 'LLPH', 'score': 10.51}, {'connected_gene': 'ENSG00000256072', 'score': 10.49}, {'connected_gene': 'HELB', 'score': 9.94}, {'connected_gene': 'IRAK3', 'score': 0.77}, {'connected_gene': 'PIR44949', 'score': 0.29}]
chr12	GH12I066195	66195140	66196658	0.71	[{'connected_gene': 'LLPH-AS1', 'score': 10.64}, {'connected_gene': 'LLPH', 'score': 10.64}, {'connected_gene': 'ENSG00000256072', 'score': 10.5}, {'connected_gene': 'HELB', 'score': 10.02}, {'connected_gene': 'IRAK3', 'score': 0.44}, {'connected_gene': 'PIR44949', 'score': 0.31}]
chr12	GH12I066193	66193601	66194400	0.66	[{'connected_gene': 'LLPH-AS1', 'score': 10.51}, {'connected_gene': 'LLPH', 'score': 10.51}, {'connected_gene': 'ENSG00000256072', 'score': 10.5}, {'connected_gene': 'HELB', 'score': 9.95}, {'connected_gene': 'IRAK3', 'score': 0.44}, {'connected_gene': 'PIR44949', 'score': 0.29}]
chr12	GH12I066239	66239201	66239600	0.51	[{'connected_gene': 'LLPH-AS1', 'score': 5.54}, {'connected_gene': 'RBMS1P1', 'score': 0.77}, {'connected_gene': 'MIR6502', 'score': 0.39}, {'connected_gene': 'IRAK3', 'score': 0.23}]
chr12	GH12I066150	66150061	66150830	0.83	[{'connected_gene': 'LLPH-AS1', 'score': 35.06}, {'connected_gene': 'IRAK3', 'score': 11.68}, {'connected_gene': 'ENSG00000256072', 'score': 10.75}, {'connected_gene': 'HELB', 'score': 10.15}, {'connected_gene': 'TMBIM4', 'score': 7.07}, {'connected_gene': 'LLPH', 'score': 0.37}, {'connected_gene': 'ENSG00000228144', 'score': 0.37}]
chr12	GH12I066249	66249678	66251729	0.2	[{'connected_gene': 'MIR6502', 'score': 550.77}, {'connected_gene': 'GC12P066255', 'score': 550.77}, {'connected_gene': 'HELB', 'score': 10.76}, {'connected_gene': 'RBMS1P1', 'score': 0.37}, {'connected_gene': 'IRAK3', 'score': 0.21}]
chr12	GH12I066196	66196770	66197997	0.89	[{'connected_gene': 'ENSG00000256072', 'score': 10.7}, {'connected_gene': 'HELB', 'score': 10.02}, {'connected_gene': 'IRAK3', 'score': 8.02}, {'connected_gene': 'TMBIM4', 'score': 5.66}, {'connected_gene': 'LLPH-AS1', 'score': 5.14}, {'connected_gene': 'PIR44949', 'score': 0.31}]
chr12	GH12I066172	66172801	66173200	0.51	[{'connected_gene': 'ENSG00000256072', 'score': 9.84}, {'connected_gene': 'HELB', 'score': 9.64}, {'connected_gene': 'LLPH-AS1', 'score': 8.94}, {'connected_gene': 'TMBIM4', 'score': 0.77}, {'connected_gene': 'IRAK3', 'score': 0.37}]
chr12	GH12I065888	65888890	65900892	2.06	[{'connected_gene': 'ENSG00000256083', 'score': 11.49}, {'connected_gene': 'RPSAP52', 'score': 11.28}, {'connected_gene': 'HMGA2', 'score': 11.26}, {'connected_gene': 'IRAK3', 'score': 6.18}, {'connected_gene': 'GC12P065889', 'score': 0.44}]
chr12	GH12I066226	66226460	66227200	0.2	[{'connected_gene': 'PIR44949', 'score': 550.77}, {'connected_gene': 'IRAK3', 'score': 12.08}, {'connected_gene': 'ENSG00000256072', 'score': 11.19}, {'connected_gene': 'HELB', 'score': 10.78}, {'connected_gene': 'RBMS1P1', 'score': 0.44}]
chr12	GH12I066223	66223891	66225442	0.2	[{'connected_gene': 'PIR44949', 'score': 550.77}, {'connected_gene': 'ENSG00000256072', 'score': 11.03}, {'connected_gene': 'IRAK3', 'score': 7.29}, {'connected_gene': 'TMBIM4', 'score': 6.37}, {'connected_gene': 'LLPH-AS1', 'score': 4.95}]
chr12	GH12I066215	66215641	66215790	0.63	[{'connected_gene': 'PIR44949', 'score': 0.44}, {'connected_gene': 'IRAK3', 'score': 0.31}]
chr12	GH12I066210	66210981	66211130	0.8	[{'connected_gene': 'PIR44949', 'score': 0.39}, {'connected_gene': 'IRAK3', 'score': 0.34}]
chr12	GH12I065924	65924756	65928459	1.43	[{'connected_gene': 'ENSG00000256083', 'score': 12.15}, {'connected_gene': 'LOC100129940', 'score': 11.62}, {'connected_gene': 'RPSAP52', 'score': 11.24}, {'connected_gene': 'HMGA2', 'score': 11.23}, {'connected_gene': 'IRAK3', 'score': 7.9}, {'connected_gene': 'HELB', 'score': 5.79}, {'connected_gene': 'GC12P065889', 'score': 0.28}]