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
ENST00000249883	[[134074715, 134076605], [134077381, 134077561], [134078124, 134078345], [134078947, 134079255], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090336], [134093183, 134093436]]	[[134076546, 134076605], [134077381, 134077561], [134078124, 134078345], [134078947, 134079255], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090275]]
ENST00000422605	[[134074718, 134076605], [134077381, 134077558], [134078124, 134078345], [134078947, 134079255], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090336], [134093183, 134093289]]	[[134076546, 134076605], [134077381, 134077558], [134078124, 134078345], [134078947, 134079255], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090275]]
ENST00000514516	[[134074718, 134076605], [134077381, 134077558], [134078124, 134078345], [134078947, 134079255], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090336], [134094029, 134094321]]	[[134076546, 134076605], [134077381, 134077558], [134078124, 134078345], [134078947, 134079255], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090336], [134094029, 134094142]]
ENST00000513145	[[134076392, 134076605], [134077381, 134077558], [134078124, 134078345], [134078947, 134079249], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090336], [134093183, 134093287]]	[[134076546, 134076605], [134077381, 134077558], [134078124, 134078345], [134078947, 134079249], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090275]]
ENST00000512955	[[134086495, 134086645], [134090154, 134090336], [134093183, 134093402]]	None
ENST00000511759	[[134086594, 134086645], [134090031, 134090336], [134093183, 134093404]]	None
ENST00000506326	[[134075026, 134076605], [134077381, 134077561], [134078124, 134078345], [134078947, 134079255], [134080353, 134080649], [134084658, 134084751], [134085124, 134085683]]	None
ENST00000510560	[[134089681, 134090336], [134092357, 134092444], [134092527, 134092630]]	[[134089681, 134090275]]
ENST00000504234	[[134089822, 134090336], [134092527, 134092636]]	[[134089822, 134090275]]
ENST00000505596	[[134089841, 134090336], [134090722, 134090754]]	[[134089841, 134090275]]
ENST00000506107	[[134089893, 134090336], [134093659, 134093760]]	[[134089893, 134090275]]
ENST00000515172	[[134089905, 134090336], [134092357, 134092639]]	[[134089905, 134090275]]
ENST00000502491	[[134090176, 134090336], [134090523, 134090685], [134092883, 134093096]]	[[134090176, 134090275]]
NM_016201	[[134074186, 134076605], [134077381, 134077561], [134078124, 134078345], [134078947, 134079255], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090336], [134093183, 134093427]]	[[134076546, 134076605], [134077381, 134077561], [134078124, 134078345], [134078947, 134079255], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090275]]
NM_001278685	[[134074186, 134076605], [134077381, 134077558], [134078124, 134078345], [134078947, 134079249], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090336], [134093183, 134093427]]	[[134076546, 134076605], [134077381, 134077558], [134078124, 134078345], [134078947, 134079249], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090275]]
NM_001278683	[[134074186, 134076605], [134077381, 134077558], [134078124, 134078345], [134078947, 134079255], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090336], [134094029, 134094259]]	[[134076546, 134076605], [134077381, 134077558], [134078124, 134078345], [134078947, 134079255], [134080353, 134080649], [134084658, 134084751], [134085124, 134085269], [134086338, 134086645], [134089541, 134090336], [134094029, 134094142]]

Promoter

Chrom	Start	End	Description
chr3	134075173	134075223	CAGE_peak_1_at_RPL39P5_5end,CAGE_peak_6_at_AMOTL2_5end
chr3	134075540	134075552	CAGE_peak_11_at_AMOTL2_5end,CAGE_peak_3_at_RPL39P5_5end
chr3	134092561	134092579	CAGE_peak_3_at_AMOTL2_5end
chr3	134093254	134093271	CAGE_peak_4_at_AMOTL2_5end
chr3	134093275	134093299	CAGE_peak_1_at_AMOTL2_5end
chr3	134093301	134093311	CAGE_peak_7_at_AMOTL2_5end
chr3	134093314	134093380	CAGE_peak_2_at_AMOTL2_5end
chr3	134093395	134093422	CAGE_peak_5_at_AMOTL2_5end
chr3	134093738	134093769	CAGE_peak_9_at_AMOTL2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I134299	134299401	134299801	0.52	[{'connected_gene': 'AMOTL2', 'score': 11.23}, {'connected_gene': 'CEP63', 'score': 11.12}, {'connected_gene': 'ANAPC13', 'score': 11.12}, {'connected_gene': 'RYK', 'score': 10.6}, {'connected_gene': 'ENSG00000260633', 'score': 4.85}, {'connected_gene': 'LINC02004', 'score': 0.39}]
chr3	GH03I134347	134347217	134376466	2.71	[{'connected_gene': 'AMOTL2', 'score': 553.54}, {'connected_gene': 'ENSG00000260633', 'score': 60.85}, {'connected_gene': 'RYK', 'score': 24.55}, {'connected_gene': 'TOPBP1', 'score': 10.59}, {'connected_gene': 'TFP1', 'score': 10.24}, {'connected_gene': 'RAB6B', 'score': 5.04}, {'connected_gene': 'RPL39P5', 'score': 0.44}, {'connected_gene': 'MIR6827', 'score': 0.44}]
chr3	GH03I134376	134376504	134377145	0.63	[{'connected_gene': 'AMOTL2', 'score': 550.77}, {'connected_gene': 'GC03P134378', 'score': 550.77}, {'connected_gene': 'RYK', 'score': 9.93}, {'connected_gene': 'ENSG00000260633', 'score': 9.54}]
chr3	GH03I134322	134322711	134337789	1.63	[{'connected_gene': 'AMOTL2', 'score': 17.77}, {'connected_gene': 'ENSG00000260633', 'score': 12.83}, {'connected_gene': 'ANAPC13', 'score': 5.0}, {'connected_gene': 'LOC105374118', 'score': 0.77}]
chr3	GH03I134340	134340801	134341200	0.58	[{'connected_gene': 'AMOTL2', 'score': 11.86}, {'connected_gene': 'ANAPC13', 'score': 4.48}, {'connected_gene': 'ENSG00000260633', 'score': 0.44}, {'connected_gene': 'LOC105374118', 'score': 0.39}]
chr3	GH03I134344	134344980	134346064	0.2	[{'connected_gene': 'AMOTL2', 'score': 12.8}, {'connected_gene': 'ENSG00000260633', 'score': 0.77}, {'connected_gene': 'LOC105374118', 'score': 0.37}]
chr3	GH03I134393	134393943	134397445	0.31	[{'connected_gene': 'AMOTL2', 'score': 12.06}, {'connected_gene': 'HMGN1P9', 'score': 7.64}, {'connected_gene': 'ANAPC13', 'score': 7.3}, {'connected_gene': 'CEP63', 'score': 6.79}, {'connected_gene': 'ENSG00000260633', 'score': 6.42}, {'connected_gene': 'HMGB3P13', 'score': 0.26}]
chr3	GH03I134460	134460112	134466940	1.29	[{'connected_gene': 'ANAPC13', 'score': 68.69}, {'connected_gene': 'AMOTL2', 'score': 1.5}, {'connected_gene': 'CEP63', 'score': 0.34}, {'connected_gene': 'MIR4788', 'score': 0.31}]
chr3	GH03I134377	134377355	134377736	0.43	[{'connected_gene': 'GC03P134378', 'score': 550.77}, {'connected_gene': 'ENSG00000260633', 'score': 22.61}, {'connected_gene': 'RYK', 'score': 9.93}, {'connected_gene': 'AMOTL2', 'score': 0.77}]
chr3	GH03I134378	134378499	134378648	0.89	[{'connected_gene': 'GC03P134378', 'score': 550.77}, {'connected_gene': 'RYK', 'score': 9.93}, {'connected_gene': 'AMOTL2', 'score': 0.77}]
chr3	GH03I134346	134346121	134346910	0.2	[{'connected_gene': 'ENSG00000260633', 'score': 56.53}, {'connected_gene': 'AMOTL2', 'score': 12.8}, {'connected_gene': 'LOC105374118', 'score': 0.37}]