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
ENST00000196371	[[41730166, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794778, 41794851], [41801123, 41801172], [41803170, 41803265], [41805668, 41805783], [41807432, 41807540], [41840552, 41840613], [41842776, 41842883], [41850131, 41850281], [41853520, 41853656], [41861415, 41861506], [41862743, 41862852], [41870382, 41870621]]	[[41731830, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794778, 41794851], [41801123, 41801172], [41803170, 41803265], [41805668, 41805783], [41807432, 41807540], [41840552, 41840613], [41842776, 41842883], [41850131, 41850281], [41853520, 41853656], [41861415, 41861506], [41862743, 41862852], [41870382, 41870460]]
ENST00000509987	[[41731471, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794778, 41794851], [41801123, 41801172], [41803170, 41803265], [41805668, 41805783], [41807432, 41807540], [41840552, 41840613], [41842776, 41842883], [41843676, 41843759]]	[[41731830, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794778, 41794851], [41801123, 41801172], [41803170, 41803265], [41805668, 41805783], [41807432, 41807540], [41840552, 41840613], [41842776, 41842883], [41843676, 41843682]]
ENST00000514723	[[41749702, 41749709], [41762212, 41762302], [41840552, 41840613], [41842776, 41842859]]	None
ENST00000512084	[[41730842, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794268, 41794482]]	[[41731830, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794161]]
ENST00000510634	[[41730942, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794523, 41794685]]	[[41731830, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794161]]
ENST00000508557	[[41731682, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794237]]	None
ENST00000503374	[[41731840, 41731872], [41739491, 41739823]]	None
ENST00000513081	[[41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794642, 41794745]]	None
NM_000436	[[41730166, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794778, 41794851], [41801123, 41801172], [41803170, 41803265], [41805668, 41805783], [41807432, 41807540], [41840552, 41840613], [41842776, 41842883], [41850131, 41850281], [41853520, 41853656], [41861415, 41861506], [41862743, 41862852], [41870382, 41870791]]	[[41731830, 41731872], [41739491, 41739593], [41749628, 41749709], [41762212, 41762302], [41794104, 41794180], [41794778, 41794851], [41801123, 41801172], [41803170, 41803265], [41805668, 41805783], [41807432, 41807540], [41840552, 41840613], [41842776, 41842883], [41850131, 41850281], [41853520, 41853656], [41861415, 41861506], [41862743, 41862852], [41870382, 41870460]]

Promoter

Chrom	Start	End	Description
chr5	41794313	41794348	CAGE_peak_14_at_OXCT1_5end
chr5	41794663	41794702	CAGE_peak_7_at_OXCT1_5end
chr5	41870475	41870494	CAGE_peak_2_at_OXCT1_5end
chr5	41870495	41870512	CAGE_peak_4_at_OXCT1_5end
chr5	41870518	41870535	CAGE_peak_1_at_OXCT1_5end
chr5	41870568	41870569	CAGE_peak_6_at_OXCT1_5end
chr5	41870593	41870606	CAGE_peak_3_at_OXCT1_5end
chr5	41870631	41870644	CAGE_peak_5_at_OXCT1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr5	GH05I041656	41656238	41657259	0.38	[{'connected_gene': 'OXCT1', 'score': 8.69}, {'connected_gene': 'TCP1P2', 'score': 0.2}, {'connected_gene': 'GC05M041733', 'score': 0.18}]
chr5	GH05I041908	41908301	41909229	0.31	[{'connected_gene': 'OXCT1', 'score': 12.38}, {'connected_gene': 'C5orf51', 'score': 0.77}, {'connected_gene': 'PIR36450', 'score': 0.39}, {'connected_gene': 'GC05P041926', 'score': 0.39}]
chr5	GH05I042359	42359931	42361748	0.38	[{'connected_gene': 'OXCT1', 'score': 5.11}, {'connected_gene': 'GC05M042277', 'score': 0.25}, {'connected_gene': 'GHR', 'score': 0.21}]
chr5	GH05I041844	41844939	41844953	0.35	[{'connected_gene': 'OXCT1', 'score': 3.87}, {'connected_gene': 'FBXO4', 'score': 1.32}, {'connected_gene': 'LOC102723752', 'score': 0.34}, {'connected_gene': 'GC05M041733', 'score': 0.14}]
chr5	GH05I041869	41869015	41871603	1.99	[{'connected_gene': 'OXCT1', 'score': 556.04}, {'connected_gene': 'LOC102723752', 'score': 550.77}, {'connected_gene': 'OXCT1-AS1', 'score': 550.77}, {'connected_gene': 'FBXO4', 'score': 20.72}, {'connected_gene': 'C5orf51', 'score': 11.54}]
chr5	GH05I041792	41792349	41796476	1.11	[{'connected_gene': 'OXCT1', 'score': 4.76}, {'connected_gene': 'GC05M041733', 'score': 0.21}, {'connected_gene': 'LOC102723752', 'score': 0.19}]
chr5	GH05I041788	41788349	41790135	0.87	[{'connected_gene': 'OXCT1', 'score': 4.42}, {'connected_gene': 'GC05M041733', 'score': 0.22}, {'connected_gene': 'LOC102723752', 'score': 0.18}]
chr5	GH05I041834	41834568	41836907	0.82	[{'connected_gene': 'OXCT1', 'score': 4.84}, {'connected_gene': 'LOC102723752', 'score': 0.29}, {'connected_gene': 'GC05M041733', 'score': 0.15}]
chr5	GH05I041826	41826631	41826653	0.24	[{'connected_gene': 'OXCT1', 'score': 0.26}, {'connected_gene': 'LOC102723752', 'score': 0.26}, {'connected_gene': 'GC05M041733', 'score': 0.16}]
chr5	GH05I041871	41871697	41872048	0.89	[{'connected_gene': 'OXCT1', 'score': 550.77}, {'connected_gene': 'OXCT1-AS1', 'score': 550.77}, {'connected_gene': 'C5orf51', 'score': 11.54}, {'connected_gene': 'FBXO4', 'score': 10.79}, {'connected_gene': 'LOC102723752', 'score': 0.77}, {'connected_gene': 'RPS2P22', 'score': 0.34}]
chr5	GH05I042530	42530019	42532909	0.31	[{'connected_gene': 'GHR', 'score': 7.13}, {'connected_gene': 'OXCT1', 'score': 4.11}, {'connected_gene': 'GC05P042548', 'score': 0.37}, {'connected_gene': 'GC05P042485', 'score': 0.25}, {'connected_gene': 'GC05P042487', 'score': 0.25}]
chr5	GH05I041924	41924200	41926341	2.1	[{'connected_gene': 'FBXO4', 'score': 561.44}, {'connected_gene': 'OXCT1', 'score': 12.2}, {'connected_gene': 'RPSAP38', 'score': 0.31}]
chr5	GH05I041856	41856759	41856928	0.9	[{'connected_gene': 'FBXO4', 'score': 10.99}, {'connected_gene': 'C5orf51', 'score': 10.69}, {'connected_gene': 'OXCT1', 'score': 0.39}, {'connected_gene': 'LOC102723752', 'score': 0.39}, {'connected_gene': 'GC05M041733', 'score': 0.13}]
chr5	GH05I041921	41921021	41921958	0.57	[{'connected_gene': 'LOC100419715', 'score': 550.77}, {'connected_gene': 'PIR60775', 'score': 550.77}, {'connected_gene': 'GC05P041927', 'score': 550.77}, {'connected_gene': 'OXCT1', 'score': 18.13}, {'connected_gene': 'OXCT1-AS1', 'score': 10.75}, {'connected_gene': 'FBXO4', 'score': 0.77}, {'connected_gene': 'C5orf51', 'score': 0.37}]
chr5	GH05I041922	41922000	41922201	0.46	[{'connected_gene': 'LOC100419715', 'score': 550.77}, {'connected_gene': 'PIR60775', 'score': 550.77}, {'connected_gene': 'GC05P041927', 'score': 550.77}, {'connected_gene': 'OXCT1', 'score': 10.75}, {'connected_gene': 'OXCT1-AS1', 'score': 10.75}, {'connected_gene': 'FBXO4', 'score': 0.77}]
chr5	GH05I042518	42518471	42520000	0.58	[{'connected_gene': 'CCDC152', 'score': 5.22}, {'connected_gene': 'OXCT1', 'score': 4.57}, {'connected_gene': 'GC05P042548', 'score': 0.31}, {'connected_gene': 'GC05P042485', 'score': 0.29}, {'connected_gene': 'GC05P042487', 'score': 0.29}, {'connected_gene': 'GHR', 'score': 0.15}]
chr5	GH05I042720	42720201	42721250	0.38	[{'connected_gene': 'CCDC152', 'score': 7.74}, {'connected_gene': 'GHR', 'score': 5.61}, {'connected_gene': 'OXCT1', 'score': 4.59}, {'connected_gene': 'PIR62948', 'score': 0.44}, {'connected_gene': 'GC05M042543', 'score': 0.14}]
chr5	GH05I041762	41762503	41764112	0.79	[{'connected_gene': 'GC05M041733', 'score': 0.31}, {'connected_gene': 'OXCT1', 'score': 0.14}, {'connected_gene': 'LOC102723752', 'score': 0.14}]
chr5	GH05I041748	41748839	41748848	0.72	[{'connected_gene': 'GC05M041733', 'score': 0.39}, {'connected_gene': 'LOC102723752', 'score': 0.13}, {'connected_gene': 'OXCT1', 'score': 0.13}]