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
ENST00000263035	[[12110970, 12111186], [12123470, 12123626], [12126538, 12126750], [12129533, 12129728], [12130984, 12131254], [12133511, 12133683], [12136071, 12136270], [12139682, 12139995], [12142176, 12142261], [12143040, 12143180], [12148244, 12148395], [12149907, 12150014], [12154898, 12155063], [12159671, 12159754], [12160747, 12160917], [12162180, 12162266], [12162785, 12165224]]	[[12111032, 12111186], [12123470, 12123626], [12126538, 12126750], [12129533, 12129728], [12130984, 12131254], [12133511, 12133683], [12136071, 12136270], [12139682, 12139995], [12142176, 12142261], [12143040, 12143180], [12148244, 12148395], [12149907, 12150014], [12154898, 12155063], [12159671, 12159754], [12160747, 12160917], [12162180, 12162266], [12162785, 12162887]]
ENST00000437298	[[12111022, 12111186], [12123470, 12123626], [12126538, 12126750], [12130984, 12131254], [12133511, 12133642]]	[[12111032, 12111186], [12123470, 12123626], [12126538, 12126750], [12130984, 12131254], [12133511, 12133642]]
ENST00000465617	[[12123522, 12123626], [12129533, 12129728], [12136071, 12136270], [12139682, 12139957]]	None
ENST00000415935	[[12131173, 12131254], [12133511, 12133683], [12136071, 12136300]]	[[12131173, 12131254], [12133511, 12133683], [12136071, 12136300]]
ENST00000448829	[[12136258, 12136270], [12139682, 12139995], [12142176, 12142261], [12143040, 12143180], [12149907, 12150014], [12154898, 12155028]]	[[12136258, 12136270], [12139682, 12139995], [12142176, 12142261], [12143040, 12143180], [12149907, 12150000]]
ENST00000479283	[[12160777, 12160917], [12162180, 12162358]]	None
NM_018706	[[12110915, 12111186], [12123470, 12123626], [12126538, 12126750], [12129533, 12129728], [12130984, 12131254], [12133511, 12133683], [12136071, 12136270], [12139682, 12139995], [12142176, 12142261], [12143040, 12143180], [12148244, 12148395], [12149907, 12150014], [12154898, 12155063], [12159671, 12159754], [12160747, 12160917], [12162180, 12162266], [12162785, 12165227]]	[[12111032, 12111186], [12123470, 12123626], [12126538, 12126750], [12129533, 12129728], [12130984, 12131254], [12133511, 12133683], [12136071, 12136270], [12139682, 12139995], [12142176, 12142261], [12143040, 12143180], [12148244, 12148395], [12149907, 12150014], [12154898, 12155063], [12159671, 12159754], [12160747, 12160917], [12162180, 12162266], [12162785, 12162887]]

Promoter

Chrom	Start	End	Description
chr10	12110929	12110940	CAGE_peak_3_at_DHTKD1_5end
chr10	12110942	12110962	CAGE_peak_2_at_DHTKD1_5end
chr10	12110963	12111034	CAGE_peak_1_at_DHTKD1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I011995	11995347	11995962	0.2	[{'connected_gene': 'DHTKD1', 'score': 11.75}, {'connected_gene': 'UPF2', 'score': 6.09}, {'connected_gene': 'GC10M012019', 'score': 0.34}, {'connected_gene': 'GC10M011946', 'score': 0.34}]
chr10	GH10I011993	11993251	11995059	0.62	[{'connected_gene': 'DHTKD1', 'score': 11.75}, {'connected_gene': 'GC10M011946', 'score': 0.34}, {'connected_gene': 'GC10M012019', 'score': 0.31}, {'connected_gene': 'UPF2', 'score': 0.25}]
chr10	GH10I012067	12067166	12070138	2.25	[{'connected_gene': 'DHTKD1', 'score': 550.77}, {'connected_gene': 'ENSG00000228302', 'score': 11.97}, {'connected_gene': 'PROSER2-AS1', 'score': 5.24}, {'connected_gene': 'GC10P012052', 'score': 0.37}]
chr10	GH10I012111	12111734	12113751	0.82	[{'connected_gene': 'DHTKD1', 'score': 12.62}, {'connected_gene': 'NUDT5', 'score': 4.94}, {'connected_gene': 'RNU6-88P', 'score': 0.77}, {'connected_gene': 'GC10M012117', 'score': 0.77}, {'connected_gene': 'GC10P012093', 'score': 0.37}]
chr10	GH10I012179	12179689	12182468	0.69	[{'connected_gene': 'SEC61A2', 'score': 21.23}, {'connected_gene': 'DHTKD1', 'score': 10.9}, {'connected_gene': 'NUDT5', 'score': 9.58}, {'connected_gene': 'PIR56929', 'score': 0.44}, {'connected_gene': 'CDC123', 'score': 0.39}]
chr10	GH10I012190	12190696	12192417	0.6	[{'connected_gene': 'SEC61A2', 'score': 11.07}, {'connected_gene': 'DHTKD1', 'score': 11.04}, {'connected_gene': 'NUDT5', 'score': 9.72}, {'connected_gene': 'CDC123', 'score': 0.77}, {'connected_gene': 'PIR56929', 'score': 0.37}]
chr10	GH10I012194	12193382	12193571	0.79	[{'connected_gene': 'SEC61A2', 'score': 11.07}, {'connected_gene': 'DHTKD1', 'score': 11.04}, {'connected_gene': 'NUDT5', 'score': 9.7}, {'connected_gene': 'CDC123', 'score': 0.77}, {'connected_gene': 'PIR56929', 'score': 0.37}]
chr10	GH10I012153	12153132	12153252	0.26	[{'connected_gene': 'SEC61A2', 'score': 11.85}, {'connected_gene': 'DHTKD1', 'score': 11.25}, {'connected_gene': 'MIR548Q', 'score': 10.22}, {'connected_gene': 'CAMK1D', 'score': 5.41}, {'connected_gene': 'MIR548AK', 'score': 0.34}, {'connected_gene': 'PIR56929', 'score': 0.34}]
chr10	GH10I012073	12073530	12075876	0.63	[{'connected_gene': 'SEC61A2', 'score': 11.77}, {'connected_gene': 'UPF2', 'score': 11.75}, {'connected_gene': 'PROSER2-AS1', 'score': 5.52}, {'connected_gene': 'DHTKD1', 'score': 0.44}, {'connected_gene': 'GC10P012093', 'score': 0.37}]
chr10	GH10I012128	12128536	12130715	1.95	[{'connected_gene': 'SEC61A2', 'score': 560.94}, {'connected_gene': 'MIR548AK', 'score': 550.77}, {'connected_gene': 'GC10P012129', 'score': 550.77}, {'connected_gene': 'DHTKD1', 'score': 11.83}, {'connected_gene': 'NUDT5', 'score': 9.17}]
chr10	GH10I012022	12022242	12023173	0.6	[{'connected_gene': 'UPF2', 'score': 13.34}, {'connected_gene': 'DHTKD1', 'score': 11.86}, {'connected_gene': 'SEC61A2', 'score': 11.81}, {'connected_gene': 'GC10M012019', 'score': 0.77}]
chr10	GH10I012040	12040706	12044760	2.36	[{'connected_gene': 'UPF2', 'score': 556.72}, {'connected_gene': 'DHTKD1', 'score': 12.59}, {'connected_gene': 'PROSER2-AS1', 'score': 4.72}, {'connected_gene': 'USP6NL', 'score': 3.68}, {'connected_gene': 'CAMK1D', 'score': 3.37}, {'connected_gene': 'LOC105376416', 'score': 0.77}, {'connected_gene': 'GC10M012019', 'score': 0.34}]
chr10	GH10I012077	12077238	12079089	0.6	[{'connected_gene': 'UPF2', 'score': 12.02}, {'connected_gene': 'DHTKD1', 'score': 0.44}, {'connected_gene': 'GC10P012093', 'score': 0.37}]
chr10	GH10I012082	12082342	12082491	0.46	[{'connected_gene': 'UPF2', 'score': 12.0}, {'connected_gene': 'GC10P012093', 'score': 0.39}, {'connected_gene': 'DHTKD1', 'score': 0.39}]
chr10	GH10I011936	11936439	11937141	0.46	[{'connected_gene': 'PROSER2-AS1', 'score': 11.29}, {'connected_gene': 'DHTKD1', 'score': 10.45}, {'connected_gene': 'GC10M011916', 'score': 0.39}, {'connected_gene': 'GC10M011946', 'score': 0.28}, {'connected_gene': 'UPF2', 'score': 0.14}]
chr10	GH10I012056	12056564	12057099	0.2	[{'connected_gene': 'NUDT5', 'score': 4.56}, {'connected_gene': 'GC10P012052', 'score': 0.77}, {'connected_gene': 'DHTKD1', 'score': 0.39}]
chr10	GH10I012121	12121563	12124458	0.83	[{'connected_gene': 'NUDT5', 'score': 9.27}, {'connected_gene': 'SEC61A2', 'score': 8.28}, {'connected_gene': 'DHTKD1', 'score': 5.84}, {'connected_gene': 'PIR36950', 'score': 0.77}, {'connected_gene': 'GC10P012129', 'score': 0.44}]
chr10	GH10I011912	11912720	11913951	0.52	[{'connected_gene': 'GC10P011915', 'score': 550.77}, {'connected_gene': 'ECHDC3', 'score': 9.95}, {'connected_gene': 'DHTKD1', 'score': 9.6}, {'connected_gene': 'PROSER2-AS1', 'score': 7.77}, {'connected_gene': 'PIR36850', 'score': 0.37}]
chr10	GH10I012052	12052718	12054666	1.07	[{'connected_gene': 'GC10P012052', 'score': 550.77}, {'connected_gene': 'ECHDC3', 'score': 6.64}, {'connected_gene': 'DHTKD1', 'score': 0.37}]
chr10	GH10I011113	11113298	11113447	0.46	[{'connected_gene': 'ENSG00000230322', 'score': 11.95}, {'connected_gene': 'DHTKD1', 'score': 5.13}, {'connected_gene': 'CELF2-AS2', 'score': 0.44}, {'connected_gene': 'GC10M011141', 'score': 0.31}, {'connected_gene': 'CELF2', 'score': 0.06}]