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
ENST00000540363	[[73946845, 73947036], [73954432, 73954613], [73958907, 73958955]]	None
ENST00000524388	[[73958531, 73959046], [73970967, 73971181], [73978225, 73978363], [73979189, 73979286], [73980696, 73980765], [73984589, 73984652], [73988029, 73988189], [73990432, 73990497], [73996853, 73997030], [73997272, 73997436], [73998160, 73998336], [74000123, 74000175], [74009256, 74009406], [74013413, 74013637], [74015314, 74015457], [74022456, 74022676]]	[[73998331, 73998336], [74000123, 74000175], [74009256, 74009406], [74013413, 74013637], [74015314, 74015457], [74022456, 74022656]]
ENST00000532689	[[73970885, 73971181], [73978225, 73978363], [73979189, 73979286], [73980696, 73980714]]	[[73978292, 73978363], [73979189, 73979286], [73980696, 73980714]]
ENST00000331597	[[73977699, 73978363], [73979189, 73979286], [73980696, 73980765], [73984589, 73984652], [73988029, 73988189], [73990432, 73990497], [73996853, 73997030], [73997272, 73997436], [74000123, 74000175], [74009256, 74009406], [74013413, 74013637], [74015314, 74015457], [74022456, 74022702]]	[[73978292, 73978363], [73979189, 73979286], [73980696, 73980765], [73984589, 73984652], [73988029, 73988189], [73990432, 73990497], [73996853, 73997030], [73997272, 73997436], [74000123, 74000175], [74009256, 74009406], [74013413, 74013637], [74015314, 74015457], [74022456, 74022656]]
ENST00000525968	[[73977701, 73978363], [73979189, 73979286], [73980696, 73980765], [73984589, 73984652], [73990432, 73990497], [73996853, 73997030], [73997272, 73997436], [74000123, 74000175], [74009256, 74009406], [74013413, 74013637], [74015348, 74015457], [74022456, 74022669]]	[[74013631, 74013637], [74015348, 74015457], [74022456, 74022656]]
ENST00000427714	[[73977701, 73978363], [73979189, 73979279], [73980696, 73980765], [73984589, 73984652], [73988029, 73988189], [73990432, 73990497], [73996853, 73997030], [73997272, 73997436], [74000123, 74000175], [74009256, 74009406], [74013413, 74013637], [74015314, 74015457], [74022456, 74022685]]	[[73978105, 73978363], [73979189, 73979279], [73980696, 73980765], [73984589, 73984652], [73988029, 73988189], [73990432, 73990497], [73996853, 73997030], [73997272, 73997436], [74000123, 74000175], [74009256, 74009406], [74013413, 74013637], [74015314, 74015457], [74022456, 74022656]]
ENST00000531716	[[73996477, 73997030], [73997272, 73997300]]	None
NM_182904	[[73977693, 73978363], [73979189, 73979286], [73980696, 73980765], [73984589, 73984652], [73988029, 73988189], [73990432, 73990497], [73996853, 73997030], [73997272, 73997436], [74000123, 74000175], [74009256, 74009406], [74013413, 74013637], [74015314, 74015457], [74022456, 74022721]]	[[73978292, 73978363], [73979189, 73979286], [73980696, 73980765], [73984589, 73984652], [73988029, 73988189], [73990432, 73990497], [73996853, 73997030], [73997272, 73997436], [74000123, 74000175], [74009256, 74009406], [74013413, 74013637], [74015314, 74015457], [74022456, 74022656]]
NM_001288748	[[73977693, 73978363], [73979189, 73979279], [73980696, 73980765], [73984589, 73984652], [73988029, 73988189], [73990432, 73990497], [73996853, 73997030], [73997272, 73997436], [74000123, 74000175], [74009256, 74009406], [74013413, 74013637], [74015314, 74015457], [74022456, 74022721]]	[[73978105, 73978363], [73979189, 73979279], [73980696, 73980765], [73984589, 73984652], [73988029, 73988189], [73990432, 73990497], [73996853, 73997030], [73997272, 73997436], [74000123, 74000175], [74009256, 74009406], [74013413, 74013637], [74015314, 74015457], [74022456, 74022656]]
NR_110031	[[73977693, 73978363], [73979189, 73979286], [73980696, 73980765], [73984589, 73984652], [73990432, 73990497], [73996853, 73997030], [73997272, 73997436], [74000123, 74000175], [74009256, 74009406], [74013413, 74013637], [74015348, 74015457], [74022456, 74022721]]	None

Promoter

Chrom	Start	End	Description
chr11	74022658	74022704	CAGE_peak_1_at_P4HA3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I073375	73375301	73390293	2.62	[{'connected_gene': 'RELT', 'score': 562.44}, {'connected_gene': 'ENSG00000206913', 'score': 50.94}, {'connected_gene': 'C2CD3', 'score': 29.55}, {'connected_gene': 'ARPC3P4', 'score': 29.47}, {'connected_gene': 'ARHGEF17', 'score': 15.87}, {'connected_gene': 'ENSG00000256448', 'score': 13.6}, {'connected_gene': 'P4HA3', 'score': 9.96}, {'connected_gene': 'FAM168A', 'score': 6.42}, {'connected_gene': 'PAAF1', 'score': 6.17}, {'connected_gene': 'RAB6A', 'score': 4.35}, {'connected_gene': 'FCHSD2', 'score': 2.94}, {'connected_gene': 'P2RY2', 'score': 1.71}, {'connected_gene': 'ENSG00000256928', 'score': 0.39}, {'connected_gene': 'GC11P073353', 'score': 0.31}]
chr11	GH11I074030	74030107	74031467	0.51	[{'connected_gene': 'UCP3', 'score': 12.33}, {'connected_gene': 'UCP2', 'score': 11.59}, {'connected_gene': 'ENSG00000255847', 'score': 11.16}, {'connected_gene': 'ENSG00000206913', 'score': 9.4}, {'connected_gene': 'P4HA3', 'score': 4.77}, {'connected_gene': 'ENSG00000256098', 'score': 0.14}, {'connected_gene': 'C2CD3', 'score': 0.11}]
chr11	GH11I073968	73968097	73985029	2.52	[{'connected_gene': 'UCP2', 'score': 559.72}, {'connected_gene': 'POLD3', 'score': 27.32}, {'connected_gene': 'ENSG00000206913', 'score': 20.72}, {'connected_gene': 'RNF169', 'score': 20.39}, {'connected_gene': 'UCP3', 'score': 11.68}, {'connected_gene': 'RN7SL239P', 'score': 9.76}, {'connected_gene': 'MRPL48', 'score': 8.49}, {'connected_gene': 'DNAJB13', 'score': 8.09}, {'connected_gene': 'P4HA3', 'score': 7.96}, {'connected_gene': 'PPME1', 'score': 7.74}, {'connected_gene': 'LOC100421622', 'score': 7.26}, {'connected_gene': 'PAAF1', 'score': 6.92}, {'connected_gene': 'ENSG00000255847', 'score': 0.44}]
chr11	GH11I073645	73645201	73649017	2.31	[{'connected_gene': 'PLEKHB1', 'score': 565.52}, {'connected_gene': 'MRPL48', 'score': 14.07}, {'connected_gene': 'PPME1', 'score': 5.39}, {'connected_gene': 'FAM168A', 'score': 4.9}, {'connected_gene': 'P4HA3', 'score': 4.2}, {'connected_gene': 'GC11M073664', 'score': 0.37}]
chr11	GH11I073786	73786738	73789983	2.14	[{'connected_gene': 'MRPL48', 'score': 568.12}, {'connected_gene': 'POLD3', 'score': 58.83}, {'connected_gene': 'ENSG00000206913', 'score': 43.22}, {'connected_gene': 'RNF169', 'score': 29.89}, {'connected_gene': 'ARPC3P4', 'score': 25.4}, {'connected_gene': 'RAB6A', 'score': 22.67}, {'connected_gene': 'C2CD3', 'score': 20.55}, {'connected_gene': 'P4HA3', 'score': 12.73}, {'connected_gene': 'ENSG00000256034', 'score': 11.57}, {'connected_gene': 'ENSG00000254837', 'score': 10.7}, {'connected_gene': 'PLEKHB1', 'score': 8.09}, {'connected_gene': 'GC11M073833', 'score': 0.26}, {'connected_gene': 'RN7SKP243', 'score': 0.26}]
chr11	GH11I074068	74068450	74071824	0.9	[{'connected_gene': 'PPME1', 'score': 16.8}, {'connected_gene': 'P4HA3', 'score': 15.93}, {'connected_gene': 'UCP3', 'score': 10.75}, {'connected_gene': 'UCP2', 'score': 10.65}, {'connected_gene': 'ENSG00000256098', 'score': 0.19}, {'connected_gene': 'C2CD3', 'score': 0.15}]
chr11	GH11I074085	74085497	74086427	0.9	[{'connected_gene': 'PPME1', 'score': 14.42}, {'connected_gene': 'P4HA3', 'score': 8.92}, {'connected_gene': 'ENSG00000256098', 'score': 0.22}, {'connected_gene': 'UCP3', 'score': 0.18}, {'connected_gene': 'C2CD3', 'score': 0.17}]
chr11	GH11I074003	74003998	74006509	0.92	[{'connected_gene': 'PPME1', 'score': 17.68}, {'connected_gene': 'P4HA3', 'score': 15.93}, {'connected_gene': 'UCP3', 'score': 0.77}, {'connected_gene': 'LOC100421622', 'score': 0.44}]
chr11	GH11I074133	74133138	74143376	1.34	[{'connected_gene': 'PPME1', 'score': 32.29}, {'connected_gene': 'P4HA3', 'score': 20.66}, {'connected_gene': 'C2CD3', 'score': 15.15}, {'connected_gene': 'UCP3', 'score': 10.63}, {'connected_gene': 'UCP2', 'score': 10.63}, {'connected_gene': 'ENSG00000206913', 'score': 9.91}, {'connected_gene': 'ENSG00000256098', 'score': 0.77}]
chr11	GH11I074146	74146895	74148133	0.74	[{'connected_gene': 'PPME1', 'score': 14.62}, {'connected_gene': 'P4HA3', 'score': 10.73}, {'connected_gene': 'ENSG00000256098', 'score': 0.44}, {'connected_gene': 'C2CD3', 'score': 0.34}]
chr11	GH11I074169	74169692	74173227	2.28	[{'connected_gene': 'PPME1', 'score': 567.2}, {'connected_gene': 'C2CD3', 'score': 558.32}, {'connected_gene': 'GC11P074171', 'score': 550.77}, {'connected_gene': 'POLD3', 'score': 43.38}, {'connected_gene': 'ENSG00000206913', 'score': 42.01}, {'connected_gene': 'RNF169', 'score': 28.49}, {'connected_gene': 'P4HA3', 'score': 20.46}, {'connected_gene': 'PAAF1', 'score': 9.76}, {'connected_gene': 'RN7SL239P', 'score': 9.76}]
chr11	GH11I074370	74370008	74372804	0.72	[{'connected_gene': 'PGM2L1', 'score': 12.33}, {'connected_gene': 'ENSG00000254631', 'score': 12.33}, {'connected_gene': 'KCNE3', 'score': 10.91}, {'connected_gene': 'ENSG00000206913', 'score': 10.67}, {'connected_gene': 'ENSG00000254928', 'score': 10.61}, {'connected_gene': 'P4HA3', 'score': 8.09}, {'connected_gene': 'LOC100421622', 'score': 4.86}, {'connected_gene': 'ARRB1', 'score': 4.78}, {'connected_gene': 'HNRNPA1P40', 'score': 0.37}]
chr11	GH11I074257	74257989	74258725	0.38	[{'connected_gene': 'P4HA3', 'score': 19.7}, {'connected_gene': 'PAAF1', 'score': 10.43}, {'connected_gene': 'C2CD3', 'score': 5.15}, {'connected_gene': 'PIR36741', 'score': 0.77}, {'connected_gene': 'GC11P074254', 'score': 0.77}, {'connected_gene': 'P4HA3-AS1', 'score': 0.23}]
chr11	GH11I074024	74024256	74027289	1.42	[{'connected_gene': 'P4HA3', 'score': 18.41}, {'connected_gene': 'ENSG00000255440', 'score': 4.58}, {'connected_gene': 'UCP3', 'score': 0.37}, {'connected_gene': 'ENSG00000256098', 'score': 0.13}, {'connected_gene': 'C2CD3', 'score': 0.11}]
chr11	GH11I074017	74017558	74023689	1.6	[{'connected_gene': 'P4HA3', 'score': 16.72}, {'connected_gene': 'PPME1', 'score': 6.53}, {'connected_gene': 'PAAF1', 'score': 4.86}, {'connected_gene': 'ENSG00000254631', 'score': 4.13}, {'connected_gene': 'FAM168A', 'score': 4.13}, {'connected_gene': 'UCP3', 'score': 0.39}, {'connected_gene': 'ENSG00000256098', 'score': 0.13}, {'connected_gene': 'C2CD3', 'score': 0.1}]
chr11	GH11I073999	73999072	74003319	0.54	[{'connected_gene': 'P4HA3', 'score': 15.77}, {'connected_gene': 'PPME1', 'score': 12.4}, {'connected_gene': 'ENSG00000255847', 'score': 11.28}, {'connected_gene': 'MRPL48', 'score': 6.84}, {'connected_gene': 'PLEKHB1', 'score': 4.84}, {'connected_gene': 'UCP3', 'score': 0.44}, {'connected_gene': 'LOC100421622', 'score': 0.44}]
chr11	GH11I074154	74154185	74155254	0.74	[{'connected_gene': 'P4HA3', 'score': 20.6}, {'connected_gene': 'PPME1', 'score': 20.38}, {'connected_gene': 'ENSG00000255847', 'score': 10.42}, {'connected_gene': 'ENSG00000206913', 'score': 9.43}, {'connected_gene': 'ENSG00000256098', 'score': 0.39}, {'connected_gene': 'C2CD3', 'score': 0.37}]
chr11	GH11I075174	75174303	75175799	1.35	[{'connected_gene': 'P4HA3', 'score': 12.73}, {'connected_gene': 'ENSG00000206913', 'score': 10.6}, {'connected_gene': 'POLD3', 'score': 10.51}, {'connected_gene': 'NEU3', 'score': 9.36}, {'connected_gene': 'XRRA1', 'score': 4.87}, {'connected_gene': 'SPCS2', 'score': 2.81}, {'connected_gene': 'ARRB1', 'score': 1.3}, {'connected_gene': 'RNF169', 'score': 1.27}, {'connected_gene': 'ENSG00000255395', 'score': 0.29}, {'connected_gene': 'ZDHHC20P3', 'score': 0.23}, {'connected_gene': 'SLCO2B1', 'score': 0.19}]
chr11	GH11I074276	74276649	74280784	0.88	[{'connected_gene': 'P4HA3', 'score': 37.44}, {'connected_gene': 'ENSG00000206913', 'score': 11.56}, {'connected_gene': 'P4HA3-AS1', 'score': 11.15}, {'connected_gene': 'KCNE3', 'score': 10.12}, {'connected_gene': 'ENSG00000254928', 'score': 9.88}, {'connected_gene': 'PPME1', 'score': 7.61}, {'connected_gene': 'PGM2L1', 'score': 5.02}, {'connected_gene': 'PIR36741', 'score': 0.34}, {'connected_gene': 'GC11P074254', 'score': 0.34}]
chr11	GH11I074268	74268200	74270065	0.57	[{'connected_gene': 'P4HA3', 'score': 10.89}, {'connected_gene': 'P4HA3-AS1', 'score': 10.89}, {'connected_gene': 'KCNE3', 'score': 10.12}, {'connected_gene': 'PPME1', 'score': 7.05}, {'connected_gene': 'PIR36741', 'score': 0.37}, {'connected_gene': 'GC11P074254', 'score': 0.37}]
chr11	GH11I074287	74287649	74289422	0.97	[{'connected_gene': 'P4HA3', 'score': 11.57}, {'connected_gene': 'P4HA3-AS1', 'score': 11.57}, {'connected_gene': 'ENSG00000206913', 'score': 11.05}, {'connected_gene': 'KCNE3', 'score': 9.74}, {'connected_gene': 'PGM2L1', 'score': 5.03}, {'connected_gene': 'PIR36741', 'score': 0.29}, {'connected_gene': 'GC11P074254', 'score': 0.29}]
chr11	GH11I074311	74311244	74311963	1.66	[{'connected_gene': 'P4HA3', 'score': 569.05}, {'connected_gene': 'P4HA3-AS1', 'score': 550.77}]
chr11	GH11I074318	74318003	74320204	0.79	[{'connected_gene': 'P4HA3', 'score': 24.16}, {'connected_gene': 'ENSG00000206913', 'score': 11.34}, {'connected_gene': 'KCNE3', 'score': 9.59}, {'connected_gene': 'PPME1', 'score': 9.17}, {'connected_gene': 'PGM2L1', 'score': 4.7}, {'connected_gene': 'P4HA3-AS1', 'score': 0.44}, {'connected_gene': 'LOC105369385', 'score': 0.44}]
chr11	GH11I074325	74325296	74326827	0.58	[{'connected_gene': 'P4HA3', 'score': 23.02}, {'connected_gene': 'ENSG00000206913', 'score': 10.72}, {'connected_gene': 'KCNE3', 'score': 10.03}, {'connected_gene': 'PPME1', 'score': 7.64}, {'connected_gene': 'LOC105369385', 'score': 0.77}]
chr11	GH11I074322	74322689	74322976	0.2	[{'connected_gene': 'P4HA3', 'score': 23.11}, {'connected_gene': 'ENSG00000206913', 'score': 10.72}, {'connected_gene': 'KCNE3', 'score': 10.03}, {'connected_gene': 'LOC100421622', 'score': 4.68}, {'connected_gene': 'LOC105369385', 'score': 0.44}, {'connected_gene': 'P4HA3-AS1', 'score': 0.39}]
chr11	GH11I074747	74747610	74750509	2.05	[{'connected_gene': 'RNF169', 'score': 565.2}, {'connected_gene': 'XRRA1', 'score': 119.21}, {'connected_gene': 'ARPC3P4', 'score': 18.64}, {'connected_gene': 'RPS3', 'score': 14.29}, {'connected_gene': 'ENSG00000206913', 'score': 14.25}, {'connected_gene': 'C2CD3', 'score': 12.83}, {'connected_gene': 'POLD3', 'score': 12.5}, {'connected_gene': 'SNORD15B', 'score': 12.36}, {'connected_gene': 'P4HA3', 'score': 11.83}, {'connected_gene': 'LOC105369391', 'score': 10.57}, {'connected_gene': 'RN7SL239P', 'score': 10.35}, {'connected_gene': 'ENSG00000254837', 'score': 10.17}, {'connected_gene': 'ENSG00000278879', 'score': 0.18}]
chr11	GH11I075029	75029695	75032716	1.48	[{'connected_gene': 'XRRA1', 'score': 103.46}, {'connected_gene': 'ENSG00000206913', 'score': 22.3}, {'connected_gene': 'POLD3', 'score': 22.06}, {'connected_gene': 'RPS3', 'score': 14.04}, {'connected_gene': 'RNF169', 'score': 13.01}, {'connected_gene': 'P4HA3', 'score': 12.73}, {'connected_gene': 'SNORD15B', 'score': 11.62}, {'connected_gene': 'OR2AT4', 'score': 11.23}, {'connected_gene': 'SLCO2B1', 'score': 11.0}, {'connected_gene': 'RN7SL239P', 'score': 10.3}, {'connected_gene': 'ARRB1', 'score': 1.33}, {'connected_gene': 'PIR37723', 'score': 0.39}, {'connected_gene': 'PIR50270', 'score': 0.37}]
chr11	GH11I075154	75154316	75166323	2.08	[{'connected_gene': 'SLCO2B1', 'score': 560.45}, {'connected_gene': 'C2CD3', 'score': 12.83}, {'connected_gene': 'P4HA3', 'score': 11.81}, {'connected_gene': 'ENSG00000255395', 'score': 9.93}, {'connected_gene': 'XRRA1', 'score': 9.25}, {'connected_gene': 'OR2AT4', 'score': 1.48}, {'connected_gene': 'ZDHHC20P3', 'score': 0.2}]
chr11	GH11I073992	73992885	73998299	1.4	[{'connected_gene': 'LOC100421622', 'score': 550.77}, {'connected_gene': 'P4HA3', 'score': 16.52}, {'connected_gene': 'PPME1', 'score': 12.16}, {'connected_gene': 'ENSG00000255847', 'score': 11.91}, {'connected_gene': 'PAAF1', 'score': 5.71}, {'connected_gene': 'UCP2', 'score': 5.06}, {'connected_gene': 'LIPT2', 'score': 4.53}, {'connected_gene': 'C2CD3', 'score': 1.95}, {'connected_gene': 'LOC100037267', 'score': 0.77}]
chr11	GH11I074366	74366376	74367401	0.2	[{'connected_gene': 'ENSG00000254631', 'score': 11.92}, {'connected_gene': 'PGM2L1', 'score': 11.92}, {'connected_gene': 'ENSG00000206913', 'score': 10.68}, {'connected_gene': 'P4HA3', 'score': 8.03}, {'connected_gene': 'HNRNPA1P40', 'score': 0.39}, {'connected_gene': 'LOC105369385', 'score': 0.28}]
chr11	GH11I074255	74255876	74256025	0.72	[{'connected_gene': 'PIR36741', 'score': 0.77}, {'connected_gene': 'GC11P074254', 'score': 0.77}, {'connected_gene': 'P4HA3', 'score': 0.22}, {'connected_gene': 'P4HA3-AS1', 'score': 0.22}]
chr11	GH11I074321	74321495	74322645	0.82	[{'connected_gene': 'ENSG00000206913', 'score': 11.34}, {'connected_gene': 'KCNE3', 'score': 10.03}, {'connected_gene': 'PPME1', 'score': 9.96}, {'connected_gene': 'P4HA3', 'score': 8.26}, {'connected_gene': 'PGM2L1', 'score': 4.69}, {'connected_gene': 'LOC105369385', 'score': 0.44}, {'connected_gene': 'P4HA3-AS1', 'score': 0.39}]
chr11	GH11I074339	74339116	74339225	0.38	[{'connected_gene': 'ENSG00000206913', 'score': 10.91}, {'connected_gene': 'KCNE3', 'score': 10.66}, {'connected_gene': 'P4HA3', 'score': 9.39}, {'connected_gene': 'HNRNPA1P40', 'score': 9.17}, {'connected_gene': 'LOC105369385', 'score': 0.39}, {'connected_gene': 'PGM2L1', 'score': 0.22}]