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
ENST00000464451	[[127770483, 127770753], [127771677, 127771745], [127774358, 127774424], [127774515, 127774594], [127775551, 127775683], [127778944, 127779054], [127779350, 127779504], [127783719, 127783880], [127785796, 127785994], [127786263, 127786455], [127786825, 127786902], [127788318, 127788682]]	[[127770728, 127770753], [127771677, 127771745], [127774358, 127774424], [127774515, 127774594], [127775551, 127775683], [127778944, 127779054], [127779350, 127779504], [127783719, 127783880], [127785796, 127785994], [127786263, 127786455], [127786825, 127786902], [127788318, 127788505]]
ENST00000243253	[[127771211, 127771402], [127771677, 127771745], [127774358, 127774424], [127774515, 127774594], [127775551, 127775683], [127778944, 127779054], [127779350, 127779504], [127783719, 127783880], [127785796, 127785994], [127786263, 127786455], [127786825, 127786902], [127788318, 127790525]]	[[127771395, 127771402], [127771677, 127771745], [127774358, 127774424], [127774515, 127774594], [127775551, 127775683], [127778944, 127779054], [127779350, 127779504], [127783719, 127783880], [127785796, 127785994], [127786263, 127786455], [127786825, 127786902], [127788318, 127788505]]
ENST00000481210	[[127771268, 127771402], [127774358, 127774424], [127774515, 127774594], [127775551, 127775683], [127778944, 127779054]]	[[127774533, 127774594], [127775551, 127775683], [127778944, 127779054]]
ENST00000491668	[[127771331, 127771745], [127774358, 127774424], [127774515, 127774593]]	None
ENST00000424880	[[127771601, 127771745], [127778944, 127779054], [127779350, 127779504], [127783719, 127783880], [127785796, 127785994], [127786263, 127786455], [127786825, 127786902], [127788318, 127790520]]	[[127778952, 127779054], [127779350, 127779504], [127783719, 127783880], [127785796, 127785994], [127786263, 127786455], [127786825, 127786902], [127788318, 127788505]]
ENST00000483956	[[127783741, 127783781], [127783863, 127784099], [127785451, 127785546], [127785796, 127785994], [127786263, 127786455], [127786825, 127786902], [127788318, 127790526]]	None
ENST00000498837	[[127786623, 127786902], [127788318, 127788594]]	None
NM_013336	[[127771211, 127771402], [127771677, 127771745], [127774358, 127774424], [127774515, 127774594], [127775551, 127775683], [127778944, 127779054], [127779350, 127779504], [127783719, 127783880], [127785796, 127785994], [127786263, 127786455], [127786825, 127786902], [127788318, 127790526]]	[[127771395, 127771402], [127771677, 127771745], [127774358, 127774424], [127774515, 127774594], [127775551, 127775683], [127778944, 127779054], [127779350, 127779504], [127783719, 127783880], [127785796, 127785994], [127786263, 127786455], [127786825, 127786902], [127788318, 127788505]]

Promoter

Chrom	Start	End	Description
chr3	127770455	127770491	CAGE_peak_4_at_SEC61A1_5end
chr3	127771233	127771316	CAGE_peak_1_at_SEC61A1_5end
chr3	127783792	127783816	CAGE_peak_2_at_SEC61A1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I128111	128111519	128115107	1.2	[{'connected_gene': 'RUVBL1', 'score': 14.7}, {'connected_gene': 'RUVBL1-AS1', 'score': 11.85}, {'connected_gene': 'RNU2-37P', 'score': 11.85}, {'connected_gene': 'RNU6-823P', 'score': 11.7}, {'connected_gene': 'EEFSEC', 'score': 6.92}, {'connected_gene': 'SEC61A1', 'score': 4.44}, {'connected_gene': 'GATA2', 'score': 3.82}, {'connected_gene': 'PIR39032', 'score': 0.31}]
chr3	GH03I128005	128005916	128006975	0.49	[{'connected_gene': 'EEFSEC', 'score': 6.57}, {'connected_gene': 'GC03P127973', 'score': 0.29}, {'connected_gene': 'SEC61A1', 'score': 0.25}]
chr3	GH03I128067	128067705	128068186	0.6	[{'connected_gene': 'MCM2', 'score': 9.58}, {'connected_gene': 'TPRA1', 'score': 9.58}, {'connected_gene': 'SEC61A1', 'score': 9.15}, {'connected_gene': 'RNU2-37P', 'score': 0.44}, {'connected_gene': 'GC03M128076', 'score': 0.44}, {'connected_gene': 'LOC102723759', 'score': 0.37}, {'connected_gene': 'RUVBL1', 'score': 0.17}]
chr3	GH03I128058	128058656	128063041	0.66	[{'connected_gene': 'SEC61A1', 'score': 13.46}, {'connected_gene': 'RNU6-823P', 'score': 10.55}, {'connected_gene': 'PODXL2', 'score': 9.6}, {'connected_gene': 'EEFSEC', 'score': 7.21}, {'connected_gene': 'ACAD9', 'score': 4.19}, {'connected_gene': 'LOC102723759', 'score': 0.44}, {'connected_gene': 'GC03M128076', 'score': 0.39}, {'connected_gene': 'RNU2-37P', 'score': 0.39}]
chr3	GH03I128086	128086762	128087812	0.2	[{'connected_gene': 'SEC61A1', 'score': 13.3}, {'connected_gene': 'RNU6-823P', 'score': 10.91}, {'connected_gene': 'PODXL2', 'score': 9.43}, {'connected_gene': 'RUVBL1-AS1', 'score': 0.39}, {'connected_gene': 'PIR39032', 'score': 0.23}, {'connected_gene': 'RUVBL1', 'score': 0.2}]
chr3	GH03I128070	128070244	128071671	0.43	[{'connected_gene': 'SEC61A1', 'score': 9.15}, {'connected_gene': 'RNU2-37P', 'score': 0.77}, {'connected_gene': 'GC03M128076', 'score': 0.77}, {'connected_gene': 'LOC102723759', 'score': 0.37}, {'connected_gene': 'RUVBL1', 'score': 0.18}]
chr3	GH03I128063	128063768	128064308	0.2	[{'connected_gene': 'SEC61A1', 'score': 9.18}, {'connected_gene': 'RNU2-37P', 'score': 0.39}, {'connected_gene': 'GC03M128076', 'score': 0.39}, {'connected_gene': 'LOC102723759', 'score': 0.39}]
chr3	GH03I128051	128051098	128055940	2.22	[{'connected_gene': 'SEC61A1', 'score': 563.13}, {'connected_gene': 'PIR34686', 'score': 550.77}, {'connected_gene': 'GC03M128050', 'score': 550.77}, {'connected_gene': 'LOC102723759', 'score': 550.77}, {'connected_gene': 'RUVBL1-AS1', 'score': 11.69}, {'connected_gene': 'RNU2-37P', 'score': 11.69}, {'connected_gene': 'GC03M128076', 'score': 0.34}]
chr3	GH03I128084	128084006	128085423	0.83	[{'connected_gene': 'SEC61A1', 'score': 9.52}, {'connected_gene': 'RUVBL1-AS1', 'score': 0.44}, {'connected_gene': 'PIR39032', 'score': 0.22}, {'connected_gene': 'RUVBL1', 'score': 0.2}]
chr3	GH03I128079	128079065	128082560	1.36	[{'connected_gene': 'GATA2', 'score': 22.67}, {'connected_gene': 'TPRA1', 'score': 14.36}, {'connected_gene': 'EFCC1', 'score': 10.6}, {'connected_gene': 'SEC61A1', 'score': 9.53}, {'connected_gene': 'EEFSEC', 'score': 7.24}, {'connected_gene': 'DNAJB8', 'score': 2.52}, {'connected_gene': 'RUVBL1-AS1', 'score': 0.44}, {'connected_gene': 'PIR39032', 'score': 0.22}, {'connected_gene': 'RUVBL1', 'score': 0.19}]
chr3	GH03I128010	128010473	128010528	0.92	[{'connected_gene': 'DNAJB8', 'score': 4.51}, {'connected_gene': 'GC03P127973', 'score': 0.28}, {'connected_gene': 'SEC61A1', 'score': 0.26}]
chr3	GH03I127779	127779459	127782825	1.14	[{'connected_gene': 'TPRA1', 'score': 20.68}, {'connected_gene': 'SEC61A1', 'score': 10.4}, {'connected_gene': 'MGLL', 'score': 0.26}, {'connected_gene': 'GC03M127760', 'score': 0.23}, {'connected_gene': 'ABTB1', 'score': 0.14}]
chr3	GH03I128073	128073520	128074711	0.58	[{'connected_gene': 'RUVBL1-AS1', 'score': 550.77}, {'connected_gene': 'RNU2-37P', 'score': 550.77}, {'connected_gene': 'GC03M128076', 'score': 550.77}, {'connected_gene': 'SEC61A1', 'score': 10.07}, {'connected_gene': 'LOC102723759', 'score': 0.34}, {'connected_gene': 'RUVBL1', 'score': 0.18}]
chr3	GH03I128074	128074944	128078643	1.96	[{'connected_gene': 'RUVBL1-AS1', 'score': 550.77}, {'connected_gene': 'RNU2-37P', 'score': 550.77}, {'connected_gene': 'GC03M128076', 'score': 550.77}, {'connected_gene': 'GATA2', 'score': 15.73}, {'connected_gene': 'SEC61A1', 'score': 9.55}, {'connected_gene': 'RUVBL1', 'score': 4.74}, {'connected_gene': 'DNAJB8', 'score': 2.17}, {'connected_gene': 'PIR39032', 'score': 0.21}]
chr3	GH03I128266	128266308	128271011	0.52	[{'connected_gene': 'GC03P128267', 'score': 550.77}, {'connected_gene': 'RUVBL1', 'score': 14.1}, {'connected_gene': 'RNU6-823P', 'score': 9.81}, {'connected_gene': 'EEFSEC', 'score': 7.18}, {'connected_gene': 'SEC61A1', 'score': 6.72}, {'connected_gene': 'GC03P128276', 'score': 0.44}, {'connected_gene': 'PIR55811', 'score': 0.44}, {'connected_gene': 'GC03P128260', 'score': 0.44}]
chr3	GH03I128011	128011238	128011447	0.76	[{'connected_gene': 'GC03P127973', 'score': 0.28}, {'connected_gene': 'SEC61A1', 'score': 0.26}]
chr3	GH03I128419	128419199	128419887	0.52	[{'connected_gene': 'GC03M128409', 'score': 550.77}, {'connected_gene': 'RPL32P3', 'score': 12.73}, {'connected_gene': 'H1FX-AS1', 'score': 10.93}, {'connected_gene': 'SEC61A1', 'score': 4.25}, {'connected_gene': 'GC03P128459', 'score': 0.28}, {'connected_gene': 'EEFSEC', 'score': 0.06}]