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
ENST00000489711	[[121612935, 121613428], [121615252, 121615340], [121616234, 121616376], [121630420, 121630513], [121631867, 121631967], [121634073, 121634164], [121634462, 121634540], [121641066, 121641149], [121641621, 121641708], [121641886, 121641976], [121642068, 121642113], [121643197, 121643230], [121643791, 121643880], [121646604, 121646686], [121647267, 121647402], [121647828, 121647993], [121648148, 121648195], [121649686, 121649797], [121650485, 121650582], [121658195, 121658342], [121659230, 121659335], [121659677, 121662949]]	[[121613323, 121613428], [121615252, 121615340], [121616234, 121616376], [121630420, 121630513], [121631867, 121631967], [121634073, 121634164], [121634462, 121634540], [121641066, 121641149], [121641621, 121641708], [121641886, 121641976], [121642068, 121642113], [121643197, 121643230], [121643791, 121643880], [121646604, 121646686], [121647267, 121647402], [121647828, 121647993], [121648148, 121648195], [121649686, 121649797], [121650485, 121650582], [121658195, 121658342], [121659230, 121659335], [121659677, 121659854]]
ENST00000295605	[[121613286, 121613428], [121615252, 121615340], [121616234, 121616376], [121631867, 121631967], [121634073, 121634164], [121634462, 121634540], [121641066, 121641149], [121641621, 121641708], [121641886, 121641976], [121642068, 121642113], [121643197, 121643230], [121643791, 121643880], [121646604, 121646686], [121647267, 121647402], [121647828, 121647993], [121648148, 121648195], [121649686, 121649797], [121650485, 121650582], [121658195, 121658342], [121659230, 121659335], [121659677, 121660099]]	[[121613323, 121613428], [121615252, 121615340], [121616234, 121616376], [121631867, 121631967], [121634073, 121634164], [121634462, 121634540], [121641066, 121641149], [121641621, 121641708], [121641886, 121641976], [121642068, 121642113], [121643197, 121643230], [121643791, 121643880], [121646604, 121646686], [121647267, 121647402], [121647828, 121647993], [121648148, 121648195], [121649686, 121649797], [121650485, 121650582], [121658195, 121658342], [121659230, 121659335], [121659677, 121659854]]
ENST00000489886	[[121633771, 121633887], [121634073, 121634164], [121634462, 121634540], [121641066, 121641149], [121641621, 121641708], [121641886, 121641977]]	None
ENST00000469013	[[121614185, 121614219], [121615252, 121615340], [121616234, 121616376], [121630420, 121630513], [121631867, 121631967], [121634073, 121634164], [121634462, 121634486]]	[[121615333, 121615340], [121616234, 121616376], [121630420, 121630513], [121631867, 121631967], [121634073, 121634164], [121634462, 121634486]]
ENST00000489957	[[121646505, 121646686], [121647267, 121647385]]	None
ENST00000465060	[[121647138, 121647402], [121647828, 121647993], [121648148, 121648195], [121649686, 121649796]]	None
ENST00000469422	[[121658037, 121658342], [121659230, 121659335], [121659677, 121659829]]	None
NM_001145998	[[121613170, 121613428], [121615252, 121615340], [121616234, 121616376], [121631867, 121631967], [121634073, 121634164], [121634462, 121634540], [121641066, 121641149], [121641621, 121641708], [121641886, 121641976], [121642068, 121642113], [121643197, 121643230], [121643791, 121643880], [121646604, 121646686], [121647267, 121647402], [121647828, 121647993], [121648148, 121648195], [121649686, 121649797], [121650485, 121650582], [121658195, 121658342], [121659230, 121659335], [121659677, 121663034]]	[[121613323, 121613428], [121615252, 121615340], [121616234, 121616376], [121631867, 121631967], [121634073, 121634164], [121634462, 121634540], [121641066, 121641149], [121641621, 121641708], [121641886, 121641976], [121642068, 121642113], [121643197, 121643230], [121643791, 121643880], [121646604, 121646686], [121647267, 121647402], [121647828, 121647993], [121648148, 121648195], [121649686, 121649797], [121650485, 121650582], [121658195, 121658342], [121659230, 121659335], [121659677, 121659854]]
NM_021082	[[121613170, 121613428], [121615252, 121615340], [121616234, 121616376], [121630420, 121630513], [121631867, 121631967], [121634073, 121634164], [121634462, 121634540], [121641066, 121641149], [121641621, 121641708], [121641886, 121641976], [121642068, 121642113], [121643197, 121643230], [121643791, 121643880], [121646604, 121646686], [121647267, 121647402], [121647828, 121647993], [121648148, 121648195], [121649686, 121649797], [121650485, 121650582], [121658195, 121658342], [121659230, 121659335], [121659677, 121663034]]	[[121613323, 121613428], [121615252, 121615340], [121616234, 121616376], [121630420, 121630513], [121631867, 121631967], [121634073, 121634164], [121634462, 121634540], [121641066, 121641149], [121641621, 121641708], [121641886, 121641976], [121642068, 121642113], [121643197, 121643230], [121643791, 121643880], [121646604, 121646686], [121647267, 121647402], [121647828, 121647993], [121648148, 121648195], [121649686, 121649797], [121650485, 121650582], [121658195, 121658342], [121659230, 121659335], [121659677, 121659854]]

Promoter

Chrom	Start	End	Description
chr3	121613201	121613210	CAGE_peak_6_at_SLC15A2_5end
chr3	121613224	121613254	CAGE_peak_2_at_SLC15A2_5end
chr3	121613265	121613295	CAGE_peak_1_at_SLC15A2_5end
chr3	121613301	121613313	CAGE_peak_3_at_SLC15A2_5end
chr3	121613362	121613373	CAGE_peak_4_at_SLC15A2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I122002	122002601	122005524	1.31	[{'connected_gene': 'IQCB1', 'score': 20.59}, {'connected_gene': 'SLC15A2', 'score': 14.73}, {'connected_gene': 'CD86', 'score': 13.94}, {'connected_gene': 'ENSG00000202388', 'score': 13.28}, {'connected_gene': 'ILDR1', 'score': 13.16}, {'connected_gene': 'CSTA', 'score': 1.54}, {'connected_gene': 'EAF2', 'score': 1.53}, {'connected_gene': 'HCLS1', 'score': 1.53}, {'connected_gene': 'LOC101927010', 'score': 0.37}, {'connected_gene': 'GC03M121324', 'score': 0.28}]
chr3	GH03I121994	121994028	121996283	1.21	[{'connected_gene': 'IQCB1', 'score': 21.22}, {'connected_gene': 'SLC15A2', 'score': 17.81}, {'connected_gene': 'EAF2', 'score': 12.82}, {'connected_gene': 'CD86', 'score': 10.88}, {'connected_gene': 'HCLS1', 'score': 1.43}, {'connected_gene': 'CSTA', 'score': 1.32}, {'connected_gene': 'LOC101927010', 'score': 0.44}, {'connected_gene': 'ENSG00000202388', 'score': 0.29}, {'connected_gene': 'GC03M121324', 'score': 0.26}, {'connected_gene': 'ILDR1', 'score': 0.2}]
chr3	GH03I121624	121624141	121625413	0.31	[{'connected_gene': 'IQCB1', 'score': 23.38}, {'connected_gene': 'SLC15A2', 'score': 6.37}, {'connected_gene': 'HCLS1', 'score': 5.89}, {'connected_gene': 'RN7SL172P', 'score': 0.31}, {'connected_gene': 'FBXO40', 'score': 0.29}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3	GH03I121625	121625611	121628282	0.2	[{'connected_gene': 'IQCB1', 'score': 23.38}, {'connected_gene': 'SLC15A2', 'score': 6.37}, {'connected_gene': 'HCLS1', 'score': 6.06}, {'connected_gene': 'RN7SL172P', 'score': 0.31}, {'connected_gene': 'FBXO40', 'score': 0.29}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3	GH03I121802	121802958	121805262	0.38	[{'connected_gene': 'IQCB1', 'score': 39.08}, {'connected_gene': 'EAF2', 'score': 11.25}, {'connected_gene': 'SLC15A2', 'score': 9.53}, {'connected_gene': 'CSTA', 'score': 4.05}, {'connected_gene': 'GOLGB1', 'score': 0.23}, {'connected_gene': 'GC03M121324', 'score': 0.07}]
chr3	GH03I121896	121896592	121896700	0.2	[{'connected_gene': 'IQCB1', 'score': 10.33}, {'connected_gene': 'EAF2', 'score': 10.33}, {'connected_gene': 'SLC15A2', 'score': 0.77}, {'connected_gene': 'GC03P121966', 'score': 0.2}, {'connected_gene': 'GC03M121324', 'score': 0.11}]
chr3	GH03I121833	121833858	121837075	1.98	[{'connected_gene': 'IQCB1', 'score': 587.34}, {'connected_gene': 'EAF2', 'score': 550.77}, {'connected_gene': 'GOLGB1', 'score': 11.59}, {'connected_gene': 'HCLS1', 'score': 5.54}, {'connected_gene': 'SLC15A2', 'score': 4.11}, {'connected_gene': 'GC03M121324', 'score': 0.08}]
chr3	GH03I121957	121957777	121958200	1.04	[{'connected_gene': 'CD86', 'score': 13.08}, {'connected_gene': 'IQCB1', 'score': 11.47}, {'connected_gene': 'HCLS1', 'score': 2.53}, {'connected_gene': 'EAF2', 'score': 1.57}, {'connected_gene': 'CSTA', 'score': 1.21}, {'connected_gene': 'GC03P121966', 'score': 0.44}, {'connected_gene': 'SLC15A2', 'score': 0.21}, {'connected_gene': 'GC03M121324', 'score': 0.18}]
chr3	GH03I121893	121893814	121895383	1.22	[{'connected_gene': 'SLC15A2', 'score': 555.92}, {'connected_gene': 'IQCB1', 'score': 23.45}, {'connected_gene': 'EAF2', 'score': 10.34}, {'connected_gene': 'GC03P121966', 'score': 0.19}, {'connected_gene': 'GC03M121324', 'score': 0.11}]
chr3	GH03I121607	121607719	121608837	0.2	[{'connected_gene': 'SLC15A2', 'score': 4.9}, {'connected_gene': 'IQCB1', 'score': 4.43}, {'connected_gene': 'FBXO40', 'score': 0.37}, {'connected_gene': 'RN7SL172P', 'score': 0.25}, {'connected_gene': 'GC03M121324', 'score': 0.04}]
chr3	GH03I121973	121973471	121976539	0.54	[{'connected_gene': 'SLC15A2', 'score': 18.61}, {'connected_gene': 'IQCB1', 'score': 11.46}, {'connected_gene': 'GC03P121966', 'score': 0.44}, {'connected_gene': 'LOC101927010', 'score': 0.39}, {'connected_gene': 'GC03M121324', 'score': 0.21}]
chr3	GH03I121913	121913601	121914600	0.2	[{'connected_gene': 'SLC15A2', 'score': 30.3}, {'connected_gene': 'IQCB1', 'score': 11.74}, {'connected_gene': 'GC03P121966', 'score': 0.23}, {'connected_gene': 'GC03M121324', 'score': 0.13}]
chr3	GH03I121997	121997402	121999599	1.28	[{'connected_gene': 'SLC15A2', 'score': 13.72}, {'connected_gene': 'CD86', 'score': 13.51}, {'connected_gene': 'EAF2', 'score': 11.77}, {'connected_gene': 'ENSG00000202388', 'score': 11.74}, {'connected_gene': 'ILDR1', 'score': 11.64}, {'connected_gene': 'IQCB1', 'score': 10.46}, {'connected_gene': 'CSTA', 'score': 1.56}, {'connected_gene': 'HCLS1', 'score': 1.45}, {'connected_gene': 'LOC101927010', 'score': 0.39}, {'connected_gene': 'GC03M121324', 'score': 0.26}]
chr3	GH03I121919	121919202	121919399	0.54	[{'connected_gene': 'SLC15A2', 'score': 18.23}, {'connected_gene': 'CSTA', 'score': 2.72}, {'connected_gene': 'ILDR1', 'score': 1.78}, {'connected_gene': 'GC03P121966', 'score': 0.25}, {'connected_gene': 'GC03M121324', 'score': 0.13}]
chr3	GH03I121942	121942514	121942663	0.46	[{'connected_gene': 'SLC15A2', 'score': 11.36}, {'connected_gene': 'GC03P121966', 'score': 0.34}, {'connected_gene': 'GC03M121324', 'score': 0.15}]
chr3	GH03I121943	121942274	121942403	0.38	[{'connected_gene': 'SLC15A2', 'score': 11.36}, {'connected_gene': 'GC03P121966', 'score': 0.34}, {'connected_gene': 'GC03M121324', 'score': 0.15}]
chr3	GH03I121658	121658100	121662040	2.32	[{'connected_gene': 'HCLS1', 'score': 563.94}, {'connected_gene': 'IQCB1', 'score': 28.61}, {'connected_gene': 'SLC15A2', 'score': 4.12}, {'connected_gene': 'GOLGB1', 'score': 2.14}, {'connected_gene': 'CD86', 'score': 1.41}, {'connected_gene': 'RNU4-62P', 'score': 0.77}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3	GH03I121757	121756659	121758333	0.31	[{'connected_gene': 'HCLS1', 'score': 16.62}, {'connected_gene': 'IQCB1', 'score': 13.62}, {'connected_gene': 'RN7SL172P', 'score': 11.41}, {'connected_gene': 'RNU4-62P', 'score': 11.41}, {'connected_gene': 'SLC15A2', 'score': 4.65}, {'connected_gene': 'GOLGB1', 'score': 0.44}, {'connected_gene': 'GC03M121324', 'score': 0.06}]
chr3	GH03I122009	122009675	122011971	0.49	[{'connected_gene': 'ILDR1', 'score': 13.18}, {'connected_gene': 'IQCB1', 'score': 10.87}, {'connected_gene': 'SLC15A2', 'score': 9.78}, {'connected_gene': 'ENSG00000202388', 'score': 0.39}, {'connected_gene': 'LOC101927010', 'score': 0.34}, {'connected_gene': 'GC03M121324', 'score': 0.31}]
chr3	GH03I121654	121654003	121655253	0.88	[{'connected_gene': 'RN7SL172P', 'score': 550.77}, {'connected_gene': 'RNU4-62P', 'score': 550.77}, {'connected_gene': 'IQCB1', 'score': 13.78}, {'connected_gene': 'SLC15A2', 'score': 6.61}, {'connected_gene': 'HCLS1', 'score': 5.81}, {'connected_gene': 'GC03M121324', 'score': 0.05}]
chr3	GH03I121655	121655530	121655701	0.73	[{'connected_gene': 'RN7SL172P', 'score': 550.77}, {'connected_gene': 'RNU4-62P', 'score': 550.77}, {'connected_gene': 'GOLGB1', 'score': 16.28}, {'connected_gene': 'IQCB1', 'score': 15.84}, {'connected_gene': 'LOC102723582', 'score': 14.79}, {'connected_gene': 'HCLS1', 'score': 10.29}, {'connected_gene': 'SLC15A2', 'score': 6.65}, {'connected_gene': 'EAF2', 'score': 1.17}, {'connected_gene': 'GC03M121324', 'score': 0.05}]