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
ENST00000458291	[[7326888, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7356257, 7356362], [7365700, 7365863], [7366036, 7366117], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387429], [7389434, 7389623]]	[[7365845, 7365863], [7366036, 7366117], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387406]]
ENST00000379918	[[7326891, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7356257, 7356362], [7365700, 7365808], [7366036, 7366117], [7368986, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387429], [7389434, 7389635]]	[[7327090, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7356257, 7356362], [7365700, 7365808], [7366036, 7366117], [7368986, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387406]]
ENST00000502583	[[7326891, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7356257, 7356362], [7365700, 7365808], [7366036, 7366117], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387429], [7389434, 7389976]]	[[7327090, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7356257, 7356362], [7365700, 7365808], [7366036, 7366117], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387406]]
ENST00000296742	[[7326916, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7365700, 7365808], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7389434, 7389942]]	[[7327090, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7365700, 7365808], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379128]]
ENST00000442019	[[7326974, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7356257, 7356362], [7365700, 7365808], [7366036, 7366117], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378854, 7379253], [7386017, 7386105], [7387211, 7387408], [7389434, 7389633]]	[[7374317, 7374364], [7378854, 7379253], [7386017, 7386105], [7387211, 7387406]]
ENST00000512086	[[7327090, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7365700, 7365808], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387408], [7389434, 7389635]]	[[7327090, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7365700, 7365808], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387406]]
ENST00000338150	[[7329329, 7329499], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7365700, 7365808], [7366036, 7366117], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387429], [7389434, 7389639]]	[[7329397, 7329499], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7365700, 7365808], [7366036, 7366117], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387406]]
ENST00000512691	[[7373413, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387429], [7389515, 7389635]]	[[7373413, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387429], [7389515, 7389528]]
ENST00000509324	[[7374185, 7374364], [7386017, 7386105], [7387211, 7387429], [7389434, 7389635]]	None
NM_001170692	[[7326886, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7356257, 7356362], [7365700, 7365808], [7366036, 7366117], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387429], [7389434, 7389942]]	[[7327090, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7356257, 7356362], [7365700, 7365808], [7366036, 7366117], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387406]]
NM_205864	[[7326886, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7365700, 7365808], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7389434, 7389942]]	[[7327090, 7327132], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7365700, 7365808], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379128]]
NM_001170693	[[7329329, 7329499], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7365700, 7365808], [7366036, 7366117], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387429], [7389434, 7389942]]	[[7329397, 7329499], [7330081, 7330121], [7334254, 7334323], [7355273, 7355344], [7365700, 7365808], [7366036, 7366117], [7368920, 7369031], [7370151, 7370298], [7373305, 7374364], [7378849, 7379253], [7386017, 7386105], [7387211, 7387406]]

Promoter

Chrom	Start	End	Description
chr6	7389625	7389642	CAGE_peak_2_at_CAGE1_5end
chr6	7389966	7389993	CAGE_peak_1_at_CAGE1_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr6	GH06I007388	7388279	7391394	2.08	[{'connected_gene': 'RIOK1', 'score': 575.79}, {'connected_gene': 'CAGE1', 'score': 550.77}, {'connected_gene': 'SSR1', 'score': 22.36}, {'connected_gene': 'DSP', 'score': 15.46}, {'connected_gene': 'RREB1', 'score': 13.78}, {'connected_gene': 'ENSG00000225092', 'score': 11.19}, {'connected_gene': 'ENSG00000238221', 'score': 10.78}, {'connected_gene': 'GC06P007402', 'score': 0.39}]
chr6	GH06I007412	7412565	7415662	0.46	[{'connected_gene': 'RIOK1', 'score': 24.24}, {'connected_gene': 'DSP', 'score': 15.96}, {'connected_gene': 'CAGE1', 'score': 11.75}, {'connected_gene': 'SSR1', 'score': 10.88}, {'connected_gene': 'ENSG00000238221', 'score': 10.88}, {'connected_gene': 'SNRNP48', 'score': 10.5}, {'connected_gene': 'GC06P007411', 'score': 0.77}, {'connected_gene': 'GC06M007418', 'score': 0.77}]
chr6	GH06I007163	7163688	7174799	2.13	[{'connected_gene': 'RIOK1', 'score': 13.92}, {'connected_gene': 'SNRNP48', 'score': 12.13}, {'connected_gene': 'RREB1', 'score': 5.06}, {'connected_gene': 'CAGE1', 'score': 1.92}, {'connected_gene': 'ENSG00000225092', 'score': 0.39}]
chr6	GH06I007311	7311320	7314624	2.1	[{'connected_gene': 'SSR1', 'score': 571.08}, {'connected_gene': 'GC06M007189', 'score': 550.77}, {'connected_gene': 'CAGE1', 'score': 12.32}, {'connected_gene': 'RIOK1', 'score': 12.32}, {'connected_gene': 'ENSG00000238221', 'score': 12.11}, {'connected_gene': 'SNRNP48', 'score': 10.9}, {'connected_gene': 'GC06M007303', 'score': 0.44}]
chr6	GH06I007347	7347061	7348466	0.75	[{'connected_gene': 'SSR1', 'score': 550.77}, {'connected_gene': 'DSP', 'score': 15.02}, {'connected_gene': 'GC06P007345', 'score': 0.77}, {'connected_gene': 'GC06M007374', 'score': 0.31}, {'connected_gene': 'CAGE1', 'score': 0.26}]
chr6	GH06I007134	7134782	7149599	1.81	[{'connected_gene': 'RREB1', 'score': 16.85}, {'connected_gene': 'SSR1', 'score': 11.46}, {'connected_gene': 'RIOK1', 'score': 11.2}, {'connected_gene': 'CAGE1', 'score': 6.96}, {'connected_gene': 'ENSG00000225092', 'score': 0.26}]
chr6	GH06I007112	7112198	7113959	1.42	[{'connected_gene': 'CAGE1', 'score': 8.79}, {'connected_gene': 'RREB1', 'score': 6.78}, {'connected_gene': 'RIOK1', 'score': 1.35}, {'connected_gene': 'ENSG00000225092', 'score': 0.19}]
chr6	GH06I007339	7339228	7339377	0.78	[{'connected_gene': 'RPS3P4', 'score': 550.77}, {'connected_gene': 'ENSG00000238221', 'score': 11.72}, {'connected_gene': 'CAGE1', 'score': 11.02}, {'connected_gene': 'RIOK1', 'score': 11.02}, {'connected_gene': 'ENSG00000219375', 'score': 0.44}, {'connected_gene': 'SSR1', 'score': 0.44}]
chr6	GH06I007332	7332000	7332600	0.52	[{'connected_gene': 'ENSG00000219375', 'score': 550.77}, {'connected_gene': 'RIOK1', 'score': 16.14}, {'connected_gene': 'ENSG00000238221', 'score': 11.12}, {'connected_gene': 'CAGE1', 'score': 10.55}, {'connected_gene': 'DSP', 'score': 6.5}, {'connected_gene': 'RPS3P4', 'score': 0.44}, {'connected_gene': 'SSR1', 'score': 0.37}]
chr6	GH06I007417	7417420	7418906	0.79	[{'connected_gene': 'GC06M007418', 'score': 550.77}, {'connected_gene': 'DSP', 'score': 16.05}, {'connected_gene': 'CAGE1', 'score': 11.72}, {'connected_gene': 'RIOK1', 'score': 11.72}, {'connected_gene': 'ENSG00000238221', 'score': 10.87}, {'connected_gene': 'SSR1', 'score': 10.87}, {'connected_gene': 'SNRNP48', 'score': 10.5}, {'connected_gene': 'GC06P007411', 'score': 0.44}]
chr6	GH06I007328	7328268	7328417	0.64	[{'connected_gene': 'ENSG00000238221', 'score': 11.43}, {'connected_gene': 'SNRNP48', 'score': 9.5}, {'connected_gene': 'SSR1', 'score': 7.45}, {'connected_gene': 'ENSG00000219375', 'score': 0.77}, {'connected_gene': 'GC06M007189', 'score': 0.39}, {'connected_gene': 'CAGE1', 'score': 0.21}]