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
ENST00000356940	[[27793196, 27793366], [27798803, 27798859], [27815756, 27815818], [27821435, 27821508], [27822663, 27822782], [27822856, 27822923], [27826804, 27831143]]	[[27793298, 27793366], [27798803, 27798859], [27815756, 27815818], [27821435, 27821508], [27822663, 27822782], [27822856, 27822923], [27826804, 27826980]]
ENST00000490236	[[27793227, 27793341], [27798803, 27799419]]	None
ENST00000535776	[[27793232, 27793366], [27798803, 27798859], [27815756, 27815818], [27822856, 27822923], [27826804, 27828203]]	[[27793298, 27793366], [27798803, 27798859], [27815756, 27815818], [27822856, 27822923], [27826804, 27826980]]
ENST00000375802	[[27793256, 27793366], [27798803, 27798859], [27822663, 27822782], [27822856, 27822923], [27826804, 27827069]]	[[27793298, 27793366], [27798803, 27798859], [27822663, 27822782], [27822856, 27822923], [27826804, 27826980]]
ENST00000465772	[[27793305, 27793366], [27798803, 27798859], [27815756, 27815818], [27821435, 27821508], [27822663, 27822782], [27826804, 27827418]]	None
ENST00000484281	[[27793322, 27793366], [27798803, 27798859], [27802891, 27803146]]	None
ENST00000423465	[[27793547, 27793653], [27793907, 27794119], [27798803, 27798859], [27815756, 27815818], [27820457, 27820544], [27821435, 27821508], [27822663, 27822782], [27822856, 27822923], [27826804, 27826895]]	[[27793547, 27793653], [27793907, 27794119], [27798803, 27798859], [27815756, 27815818], [27820457, 27820544], [27821435, 27821508], [27822663, 27822782], [27822856, 27822923], [27826804, 27826895]]
NM_001256415	[[27793102, 27793366], [27798803, 27798849], [27821435, 27821508], [27822663, 27822782], [27822856, 27822923], [27826804, 27831166]]	[[27793298, 27793366], [27798803, 27798849], [27821435, 27821508], [27822663, 27822782], [27822856, 27822923], [27826804, 27826980]]
NR_046172	[[27793102, 27793366], [27798803, 27798859], [27821435, 27821508], [27822663, 27822782], [27822856, 27822923], [27826804, 27831166]]	None
NM_001256412	[[27793102, 27793366], [27798803, 27798859], [27815756, 27815818], [27822856, 27822923], [27826804, 27831166]]	[[27793298, 27793366], [27798803, 27798859], [27815756, 27815818], [27822856, 27822923], [27826804, 27826980]]
NM_001256411	[[27793102, 27793366], [27798803, 27798859], [27815756, 27815818], [27821435, 27821508], [27822663, 27822782], [27826804, 27831166]]	[[27793298, 27793366], [27798803, 27798859], [27815756, 27815818], [27821435, 27821508], [27822663, 27822782], [27826804, 27827020]]
NM_021252	[[27793102, 27793366], [27798803, 27798859], [27815756, 27815818], [27821435, 27821508], [27822663, 27822782], [27822856, 27822923], [27826804, 27831166]]	[[27793298, 27793366], [27798803, 27798859], [27815756, 27815818], [27821435, 27821508], [27822663, 27822782], [27822856, 27822923], [27826804, 27826980]]
NM_001256410	[[27793102, 27793366], [27798803, 27798859], [27815756, 27815818], [27820457, 27820544], [27821435, 27821508], [27822663, 27822782], [27822856, 27822923], [27826804, 27831166]]	[[27793298, 27793366], [27798803, 27798859], [27815756, 27815818], [27820457, 27820544], [27821435, 27821508], [27822663, 27822782], [27822856, 27822923], [27826804, 27826980]]

Promoter

Chrom	Start	End	Description
chr10	27793209	27793247	CAGE_peak_1_at_RAB18_5end
chr10	27793259	27793275	CAGE_peak_2_at_RAB18_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I027535	27535347	27535762	0.2	[{'connected_gene': 'MASTL', 'score': 4.85}, {'connected_gene': 'GC10P027538', 'score': 0.77}, {'connected_gene': 'GC10P027539', 'score': 0.77}, {'connected_gene': 'GC10P027522', 'score': 0.39}, {'connected_gene': 'RAB18', 'score': 0.29}]
chr10	GH10I027500	27500164	27501266	0.31	[{'connected_gene': 'PTCHD3', 'score': 8.19}, {'connected_gene': 'RAB18', 'score': 0.77}]
chr10	GH10I027447	27447601	27448000	0.31	[{'connected_gene': 'PTCHD3', 'score': 0.29}, {'connected_gene': 'RAB18', 'score': 0.22}]
chr10	GH10I027485	27485539	27486687	0.2	[{'connected_gene': 'PTCHD3', 'score': 8.76}, {'connected_gene': 'RAB18', 'score': 4.57}]
chr10	GH10I027449	27449000	27449400	0.63	[{'connected_gene': 'PTCHD3', 'score': 13.19}, {'connected_gene': 'RAB18', 'score': 0.23}]
chr10	GH10I027446	27446123	27446622	0.74	[{'connected_gene': 'PTCHD3', 'score': 0.29}, {'connected_gene': 'RAB18', 'score': 0.22}]
chr10	GH10I027452	27452801	27453600	0.2	[{'connected_gene': 'PTCHD3', 'score': 11.8}, {'connected_gene': 'RAB18', 'score': 0.23}]
chr10	GH10I027463	27463519	27466306	0.51	[{'connected_gene': 'PTCHD3', 'score': 12.53}, {'connected_gene': 'ARMC4P1', 'score': 5.01}, {'connected_gene': 'RAB18', 'score': 0.28}]
chr10	GH10I027490	27490493	27491492	0.43	[{'connected_gene': 'PTCHD3', 'score': 8.66}, {'connected_gene': 'ARMC4P1', 'score': 4.38}, {'connected_gene': 'RAB18', 'score': 0.39}]
chr10	GH10I027531	27531088	27532177	0.31	[{'connected_gene': 'PTCHD3', 'score': 5.18}, {'connected_gene': 'FAM210CP', 'score': 4.86}, {'connected_gene': 'GC10P027538', 'score': 0.44}, {'connected_gene': 'GC10P027539', 'score': 0.44}, {'connected_gene': 'GC10P027522', 'score': 0.44}, {'connected_gene': 'RAB18', 'score': 0.31}]
chr10	GH10I027525	27525952	27526600	0.98	[{'connected_gene': 'RAB18', 'score': 1.97}, {'connected_gene': 'ACBD5', 'score': 1.88}, {'connected_gene': 'MASTL', 'score': 1.63}, {'connected_gene': 'GC10P027522', 'score': 0.77}, {'connected_gene': 'GC10P027538', 'score': 0.39}, {'connected_gene': 'GC10P027539', 'score': 0.39}]
chr10	GH10I027502	27502758	27506488	2.08	[{'connected_gene': 'RAB18', 'score': 550.77}, {'connected_gene': 'MASTL', 'score': 18.87}, {'connected_gene': 'YME1L1', 'score': 10.13}, {'connected_gene': 'GC10P027522', 'score': 0.37}]
chr10	GH10I027474	27474570	27476483	0.51	[{'connected_gene': 'RAB18', 'score': 0.31}, {'connected_gene': 'PTCHD3', 'score': 0.21}]
chr10	GH10I027482	27482170	27484487	0.66	[{'connected_gene': 'RAB18', 'score': 0.34}, {'connected_gene': 'PTCHD3', 'score': 0.2}]
chr10	GH10I027481	27481172	27482080	0.6	[{'connected_gene': 'RAB18', 'score': 0.34}, {'connected_gene': 'PTCHD3', 'score': 0.2}]
chr10	GH10I027540	27540526	27543510	0.49	[{'connected_gene': 'RAB18', 'score': 6.46}, {'connected_gene': 'FAM210CP', 'score': 4.37}, {'connected_gene': 'GC10P027538', 'score': 0.77}, {'connected_gene': 'GC10P027539', 'score': 0.77}, {'connected_gene': 'LOC105376463', 'score': 0.34}]
chr10	GH10I027513	27513537	27514439	0.49	[{'connected_gene': 'RAB18', 'score': 6.22}, {'connected_gene': 'GC10P027522', 'score': 0.44}]
chr10	GH10I027527	27527286	27530382	0.95	[{'connected_gene': 'GC10P027538', 'score': 0.44}, {'connected_gene': 'GC10P027539', 'score': 0.44}, {'connected_gene': 'GC10P027522', 'score': 0.44}, {'connected_gene': 'RAB18', 'score': 0.34}]