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
ENST00000494664	[[119217378, 119217774], [119219541, 119219707], [119222378, 119222467], [119222800, 119222868], [119232487, 119232566], [119236051, 119236162], [119242452, 119243937]]	[[119217580, 119217774], [119219541, 119219707], [119222378, 119222467], [119222800, 119222868], [119232487, 119232566], [119236051, 119236162], [119242452, 119242603]]
ENST00000493694	[[119217393, 119217774], [119236051, 119236162], [119242452, 119242670]]	[[119217580, 119217774], [119236051, 119236162], [119242452, 119242603]]
ENST00000264244	[[119217398, 119217774], [119219541, 119219707], [119222378, 119222467], [119222800, 119222868], [119236051, 119236162], [119242452, 119242913]]	[[119217580, 119217774], [119219541, 119219707], [119222378, 119222467], [119222800, 119222868], [119236051, 119236062]]
ENST00000486418	[[119217413, 119217774], [119232487, 119232566], [119236051, 119236162]]	[[119217580, 119217774], [119232487, 119232509]]
ENST00000492164	[[119217421, 119217774], [119222378, 119222467], [119222800, 119222868], [119232487, 119232566], [119236051, 119236162], [119242452, 119242477]]	[[119217580, 119217774], [119222378, 119222457]]
ENST00000466984	[[119217427, 119217774], [119222800, 119222868], [119232487, 119232566], [119236051, 119236162]]	[[119217580, 119217774], [119222800, 119222868], [119232487, 119232566], [119236051, 119236162]]
ENST00000463927	[[119217429, 119217789], [119219541, 119219707], [119236051, 119236162], [119242452, 119242485]]	[[119217580, 119217778]]
ENST00000498399	[[119217663, 119217780], [119236051, 119236162], [119242452, 119242908]]	[[119217663, 119217778]]
ENST00000469324	[[119219220, 119219707], [119222800, 119222868], [119232487, 119232566]]	None
NM_016589	[[119217367, 119217774], [119219541, 119219707], [119222378, 119222467], [119222800, 119222868], [119232487, 119232566], [119236051, 119236162], [119242452, 119243128]]	[[119217580, 119217774], [119219541, 119219707], [119222378, 119222467], [119222800, 119222868], [119232487, 119232566], [119236051, 119236162], [119242452, 119242603]]

Promoter

Chrom	Start	End	Description
chr3	119217376	119217421	CAGE_peak_1_at_TIMMDC1_5end
chr3	119217422	119217447	CAGE_peak_2_at_TIMMDC1_5end
chr3	119217454	119217479	CAGE_peak_3_at_TIMMDC1_5end
chr3	119217492	119217503	CAGE_peak_4_at_TIMMDC1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I119480	119480694	119481966	0.2	[{'connected_gene': 'CD80', 'score': 10.82}, {'connected_gene': 'TIMMDC1', 'score': 5.2}, {'connected_gene': 'POGLUT1', 'score': 4.53}, {'connected_gene': 'ENSG00000272662', 'score': 0.37}]
chr3	GH03I119518	119518509	119518999	0.25	[{'connected_gene': 'CD80', 'score': 28.27}, {'connected_gene': 'ADPRH', 'score': 12.73}, {'connected_gene': 'POGLUT1', 'score': 8.28}, {'connected_gene': 'COX17', 'score': 1.61}, {'connected_gene': 'TMEM39A', 'score': 1.54}, {'connected_gene': 'ARHGAP31', 'score': 1.54}, {'connected_gene': 'CSRP2P1', 'score': 0.39}, {'connected_gene': 'PIR33513', 'score': 0.37}, {'connected_gene': 'GC03P119501', 'score': 0.37}, {'connected_gene': 'TIMMDC1', 'score': 0.34}]
chr3	GH03I119468	119468013	119470237	2.01	[{'connected_gene': 'POGLUT1', 'score': 591.92}, {'connected_gene': 'TMEM39A', 'score': 561.68}, {'connected_gene': 'RPS26P21', 'score': 14.74}, {'connected_gene': 'B4GALT4', 'score': 11.11}, {'connected_gene': 'CD80', 'score': 10.83}, {'connected_gene': 'FSTL1', 'score': 10.7}, {'connected_gene': 'TIMMDC1', 'score': 4.57}, {'connected_gene': 'ENSG00000272662', 'score': 0.31}]
chr3	GH03I119507	119507703	119508807	0.67	[{'connected_gene': 'POGLUT1', 'score': 6.76}, {'connected_gene': 'TIMMDC1', 'score': 6.38}, {'connected_gene': 'PIR33513', 'score': 0.44}, {'connected_gene': 'GC03P119501', 'score': 0.44}, {'connected_gene': 'CSRP2P1', 'score': 0.34}]
chr3	GH03I119462	119462057	119464818	2.08	[{'connected_gene': 'TMEM39A', 'score': 550.44}, {'connected_gene': 'POGLUT1', 'score': 30.64}, {'connected_gene': 'TIMMDC1', 'score': 11.56}, {'connected_gene': 'GC03P119428', 'score': 0.29}]
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	GH03I119554	119554952	119556982	1.33	[{'connected_gene': 'ADPRH', 'score': 14.2}, {'connected_gene': 'ARHGAP31', 'score': 10.86}, {'connected_gene': 'CD80', 'score': 10.74}, {'connected_gene': 'TIMMDC1', 'score': 5.58}, {'connected_gene': 'COX17', 'score': 1.67}, {'connected_gene': 'GC03M119536', 'score': 0.77}]
chr3	GH03I119548	119548975	119552269	0.69	[{'connected_gene': 'GC03M119536', 'score': 550.77}, {'connected_gene': 'POGLUT1', 'score': 6.22}, {'connected_gene': 'TIMMDC1', 'score': 5.95}, {'connected_gene': 'GSK3B', 'score': 4.4}, {'connected_gene': 'CD80', 'score': 0.44}, {'connected_gene': 'CSRP2P1', 'score': 0.37}]