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
ENST00000407106	[[80445121, 80445247], [80445367, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452801], [80454587, 80454678], [80460393, 80460491], [80460605, 80460658], [80464490, 80464590], [80465355, 80465486], [80467357, 80467433], [80469878, 80469925], [80472465, 80472567], [80473383, 80473501], [80478471, 80479288]]	[[80445396, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452801], [80454587, 80454678], [80460393, 80460491], [80460605, 80460658], [80464490, 80464590], [80465355, 80465486], [80467357, 80467433], [80469878, 80469925], [80472465, 80472567], [80473383, 80473501], [80478471, 80478551]]
ENST00000261755	[[80445135, 80445183], [80445367, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452801], [80454587, 80454678], [80460393, 80460491], [80460605, 80460658], [80464490, 80464590], [80465355, 80465486], [80467357, 80467433], [80469878, 80469925], [80472465, 80472567], [80473383, 80473501], [80478471, 80478685]]	[[80445396, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452801], [80454587, 80454678], [80460393, 80460491], [80460605, 80460658], [80464490, 80464590], [80465355, 80465486], [80467357, 80467433], [80469878, 80469925], [80472465, 80472567], [80473383, 80473501], [80478471, 80478551]]
ENST00000561421	[[80445238, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452801], [80454587, 80454678], [80460393, 80460491], [80460605, 80460658], [80464490, 80464590], [80465355, 80465486], [80467357, 80467433], [80469878, 80469925], [80472465, 80472567], [80473383, 80473501], [80478471, 80478682]]	[[80445396, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452801], [80454587, 80454678], [80460393, 80460491], [80460605, 80460658], [80464490, 80464590], [80465355, 80465486], [80467357, 80467433], [80469878, 80469925], [80472465, 80472567], [80473383, 80473501], [80478471, 80478551]]
ENST00000539156	[[80448292, 80450512], [80452097, 80452219], [80452751, 80452801], [80454587, 80454678], [80460393, 80460491], [80460605, 80460658], [80464490, 80464590], [80465355, 80465486], [80467357, 80467433], [80469878, 80469925], [80472465, 80472567], [80473383, 80473501], [80478471, 80478690]]	[[80452115, 80452219], [80452751, 80452801], [80454587, 80454678], [80460393, 80460491], [80460605, 80460658], [80464490, 80464590], [80465355, 80465486], [80467357, 80467433], [80469878, 80469925], [80472465, 80472567], [80473383, 80473501], [80478471, 80478551]]
ENST00000559217	[[80469748, 80469925], [80472465, 80472567], [80473383, 80473501], [80478471, 80478693]]	None
ENST00000558022	[[80444831, 80444887], [80445367, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452801], [80454587, 80454678], [80460393, 80460421]]	[[80445396, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452801], [80454587, 80454678], [80460393, 80460421]]
ENST00000537726	[[80445130, 80445183], [80445367, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452865], [80454587, 80455473]]	None
ENST00000558767	[[80445135, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452801], [80454587, 80456049]]	None
ENST00000561369	[[80445196, 80445247], [80445367, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452865], [80454587, 80454825]]	None
ENST00000558627	[[80452399, 80452641], [80452751, 80452801], [80454587, 80454678], [80460393, 80460491], [80460605, 80460658], [80464490, 80464590], [80465355, 80465486], [80467357, 80467434]]	None
ENST00000558514	[[80460392, 80460491], [80460605, 80460761]]	None
ENST00000559542	[[80464548, 80464590], [80465355, 80466095]]	None
ENST00000561353	[[80467422, 80467433], [80469878, 80469925], [80472465, 80472672], [80473383, 80473442]]	[[80467422, 80467433], [80469878, 80469925], [80472465, 80472588]]
NM_000137	[[80445232, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452801], [80454587, 80454678], [80460393, 80460491], [80460605, 80460658], [80464490, 80464590], [80465355, 80465486], [80467357, 80467433], [80469878, 80469925], [80472465, 80472567], [80473383, 80473501], [80478471, 80478924]]	[[80445396, 80445477], [80450401, 80450512], [80452097, 80452219], [80452751, 80452801], [80454587, 80454678], [80460393, 80460491], [80460605, 80460658], [80464490, 80464590], [80465355, 80465486], [80467357, 80467433], [80469878, 80469925], [80472465, 80472567], [80473383, 80473501], [80478471, 80478551]]

Promoter

Chrom	Start	End	Description
chr15	80445113	80445170	CAGE_peak_2_at_FAH_5end
chr15	80445232	80445254	CAGE_peak_3_at_FAH_5end
chr15	80445261	80445274	CAGE_peak_5_at_FAH_5end
chr15	80445320	80445379	CAGE_peak_1_at_FAH_5end
chr15	80469727	80469736	CAGE_peak_8_at_FAH_5end
chr15	80469741	80469772	CAGE_peak_6_at_FAH_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr15	GH15I080141	80141060	80141064	0.57	[{'connected_gene': 'BCL2A1', 'score': 7.61}, {'connected_gene': 'ZFAND6', 'score': 2.83}, {'connected_gene': 'GC15M080141', 'score': 0.77}, {'connected_gene': 'FAH', 'score': 0.39}]
chr15	GH15I080064	80064645	80064984	0.38	[{'connected_gene': 'BCL2A1', 'score': 10.69}, {'connected_gene': 'FAH', 'score': 6.66}, {'connected_gene': 'ZFAND6', 'score': 0.44}, {'connected_gene': 'GC15M080141', 'score': 0.19}]
chr15	GH15I080058	80058532	80063520	2.03	[{'connected_gene': 'ZFAND6', 'score': 561.16}, {'connected_gene': 'BCL2A1', 'score': 10.7}, {'connected_gene': 'FAH', 'score': 9.76}, {'connected_gene': 'TLNRD1', 'score': 5.5}, {'connected_gene': 'GC15M080141', 'score': 0.18}]
chr15	GH15I080070	80070786	80073476	2.1	[{'connected_gene': 'ZFAND6', 'score': 560.78}, {'connected_gene': 'BCL2A1', 'score': 10.76}, {'connected_gene': 'FAH', 'score': 9.37}, {'connected_gene': 'GC15M080141', 'score': 0.2}]
chr15	GH15I080178	80178659	80181027	1.02	[{'connected_gene': 'ZFAND6', 'score': 10.53}, {'connected_gene': 'FAH', 'score': 8.11}, {'connected_gene': 'CTXND1', 'score': 5.6}, {'connected_gene': 'GC15P080189', 'score': 0.44}, {'connected_gene': 'ENSG00000259967', 'score': 0.39}]
chr15	GH15I080173	80173419	80173588	1.04	[{'connected_gene': 'ZFAND6', 'score': 11.73}, {'connected_gene': 'RNU6-667P', 'score': 10.23}, {'connected_gene': 'FAH', 'score': 8.39}, {'connected_gene': 'ENSG00000259967', 'score': 0.44}, {'connected_gene': 'GC15P080189', 'score': 0.37}]
chr15	GH15I080159	80159597	80163275	1.67	[{'connected_gene': 'FAH', 'score': 9.87}, {'connected_gene': 'BCL2A1', 'score': 3.7}, {'connected_gene': 'ZFAND6', 'score': 2.92}, {'connected_gene': 'ENSG00000259967', 'score': 0.77}]
chr15	GH15I080174	80173632	80175239	1.23	[{'connected_gene': 'FAH', 'score': 15.34}, {'connected_gene': 'ZFAND6', 'score': 11.73}, {'connected_gene': 'RNU6-667P', 'score': 10.23}, {'connected_gene': 'ENSG00000259967', 'score': 0.44}, {'connected_gene': 'GC15P080189', 'score': 0.39}]
chr15	GH15I080105	80105033	80106783	0.63	[{'connected_gene': 'FAH', 'score': 9.73}, {'connected_gene': 'GC15M080141', 'score': 0.29}, {'connected_gene': 'ZFAND6', 'score': 0.25}]
chr15	GH15I080151	80151605	80156685	2.27	[{'connected_gene': 'FAH', 'score': 561.86}, {'connected_gene': 'ENSG00000259649', 'score': 24.42}, {'connected_gene': 'ZFAND6', 'score': 10.61}, {'connected_gene': 'ENSG00000259967', 'score': 0.39}]
chr15	GH15I080191	80191556	80193288	0.71	[{'connected_gene': 'FAH', 'score': 8.67}, {'connected_gene': 'GC15P080189', 'score': 0.77}, {'connected_gene': 'CTXND1', 'score': 0.22}]
chr15	GH15I080193	80193721	80194849	0.2	[{'connected_gene': 'FAH', 'score': 8.11}, {'connected_gene': 'GC15P080189', 'score': 0.44}, {'connected_gene': 'CTXND1', 'score': 0.22}]
chr15	GH15I080245	80245787	80247588	0.67	[{'connected_gene': 'FAH', 'score': 6.44}, {'connected_gene': 'CTXND1', 'score': 6.29}, {'connected_gene': 'GC15P080189', 'score': 0.22}]
chr15	GH15I080053	80053629	80054521	0.83	[{'connected_gene': 'FAH', 'score': 6.86}, {'connected_gene': 'ENSG00000275460', 'score': 0.77}, {'connected_gene': 'ENSG00000279705', 'score': 0.28}]
chr15	GH15I080207	80207596	80209308	0.76	[{'connected_gene': 'RNU6-667P', 'score': 9.72}, {'connected_gene': 'FAH', 'score': 8.97}, {'connected_gene': 'ENSG00000259967', 'score': 5.14}, {'connected_gene': 'GC15P080189', 'score': 0.37}, {'connected_gene': 'CTXND1', 'score': 0.26}]
chr15	GH15I081116	81116080	81117345	0.38	[{'connected_gene': 'ANP32BP3', 'score': 550.77}, {'connected_gene': 'TLNRD1', 'score': 11.12}, {'connected_gene': 'TMC3', 'score': 10.75}, {'connected_gene': 'IL16', 'score': 5.46}, {'connected_gene': 'FAH', 'score': 4.19}, {'connected_gene': 'GC15P081073', 'score': 0.25}, {'connected_gene': 'CFAP161', 'score': 0.14}]
chr15	GH15I080183	80182041	80182138	0.2	[{'connected_gene': 'GC15P080189', 'score': 0.44}, {'connected_gene': 'ENSG00000259967', 'score': 0.37}, {'connected_gene': 'FAH', 'score': 0.31}]
chr15	GH15I080182	80182410	80183694	0.58	[{'connected_gene': 'ENSG00000259967', 'score': 6.05}, {'connected_gene': 'GC15P080189', 'score': 0.44}, {'connected_gene': 'FAH', 'score': 0.29}]