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
ENST00000453409	[[130279177, 130279272], [130281911, 130282508], [130283837, 130284458], [130285545, 130286106], [130286890, 130287448], [130289661, 130290237], [130292799, 130293369], [130300404, 130300748], [130300833, 130300912], [130305349, 130305504], [130307933, 130308026], [130309884, 130309938], [130311384, 130311456], [130311539, 130311566], [130311904, 130311949], [130312042, 130312096], [130313124, 130313187], [130317208, 130317274], [130318600, 130318654], [130325774, 130325810], [130327745, 130327808], [130329492, 130329555], [130340664, 130340727], [130345328, 130345391], [130346162, 130346213], [130353433, 130353469], [130354542, 130354605], [130360495, 130360558], [130361675, 130361711], [130361830, 130361866], [130365222, 130365235], [130367912, 130368406], [130377519, 130377616], [130380480, 130381152], [130383846, 130383940], [130394045, 130395876]]	[[130279208, 130279272], [130281911, 130282508], [130283837, 130284458], [130285545, 130286106], [130286890, 130287448], [130289661, 130290237], [130292799, 130293369], [130300404, 130300748], [130300833, 130300912], [130305349, 130305504], [130307933, 130308026], [130309884, 130309938], [130311384, 130311456], [130311539, 130311566], [130311904, 130311949], [130312042, 130312096], [130313124, 130313187], [130317208, 130317274], [130318600, 130318654], [130325774, 130325810], [130327745, 130327808], [130329492, 130329555], [130340664, 130340727], [130345328, 130345391], [130346162, 130346213], [130353433, 130353469], [130354542, 130354605], [130360495, 130360558], [130361675, 130361711], [130361830, 130361866], [130365222, 130365235], [130367912, 130368406], [130377519, 130377616], [130380480, 130381152], [130383846, 130383940], [130394045, 130394241]]
ENST00000358511	[[130279177, 130279272], [130281911, 130282508], [130283837, 130284458], [130285545, 130286106], [130286890, 130287448], [130289661, 130290237], [130292799, 130293369], [130300404, 130300748], [130300833, 130300912], [130305349, 130305504], [130307933, 130308026], [130309884, 130309938], [130311384, 130311456], [130311539, 130311566], [130311904, 130311949], [130312042, 130312096], [130313124, 130313187], [130317208, 130317274], [130318600, 130318654], [130325774, 130325810], [130327745, 130327808], [130329492, 130329555], [130340664, 130340727], [130345328, 130345391], [130346162, 130346213], [130353433, 130353469], [130354542, 130354605], [130360495, 130360558], [130361675, 130361711], [130361830, 130361867], [130363834, 130363846], [130367912, 130368406], [130377519, 130377616], [130380480, 130381152], [130383846, 130383940], [130394045, 130396999]]	[[130279208, 130279272], [130281911, 130282508], [130283837, 130284458], [130285545, 130286106], [130286890, 130287448], [130289661, 130290237], [130292799, 130293369], [130300404, 130300748], [130300833, 130300912], [130305349, 130305504], [130307933, 130308026], [130309884, 130309938], [130311384, 130311456], [130311539, 130311566], [130311904, 130311949], [130312042, 130312096], [130313124, 130313187], [130317208, 130317274], [130318600, 130318654], [130325774, 130325810], [130327745, 130327808], [130329492, 130329555], [130340664, 130340727], [130345328, 130345391], [130346162, 130346213], [130353433, 130353469], [130354542, 130354605], [130360495, 130360558], [130361675, 130361711], [130361830, 130361867], [130363834, 130363846], [130367912, 130368406], [130377519, 130377616], [130380480, 130381152], [130383846, 130383940], [130394045, 130394241]]
ENST00000506143	[[130300525, 130300748], [130300833, 130300912], [130305349, 130305504], [130307933, 130308026], [130309884, 130309938], [130311384, 130311456], [130311539, 130311566], [130311904, 130311949], [130312042, 130312096], [130313124, 130313263], [130317208, 130317274], [130318600, 130318654], [130325774, 130325810], [130327745, 130327808], [130329492, 130329555], [130340664, 130340727], [130345328, 130345391], [130346162, 130346213], [130353433, 130353469], [130354542, 130354605], [130360495, 130360558], [130361675, 130361711], [130361830, 130361867], [130363834, 130363846], [130377519, 130377616], [130380480, 130381152], [130383846, 130383940], [130394045, 130395888]]	[[130300525, 130300748], [130300833, 130300912], [130305349, 130305504], [130307933, 130308026], [130309884, 130309938], [130311384, 130311456], [130311539, 130311566], [130311904, 130311949], [130312042, 130312096], [130313124, 130313217]]
ENST00000511332	[[130300584, 130300748], [130300833, 130300912], [130305349, 130305504], [130307933, 130308026], [130308817, 130308880], [130309884, 130309938], [130311384, 130311456], [130311539, 130311566], [130311904, 130311949], [130312042, 130312068]]	[[130300584, 130300748], [130300833, 130300912], [130305349, 130305504], [130307933, 130308026], [130308817, 130308880], [130309884, 130309938], [130311384, 130311456], [130311539, 130311566], [130311904, 130311949], [130312042, 130312068]]
NM_001102608	[[130279177, 130279272], [130281911, 130282508], [130283837, 130284458], [130285545, 130286106], [130286890, 130287448], [130289661, 130290237], [130292799, 130293369], [130300404, 130300748], [130300833, 130300912], [130305349, 130305504], [130307933, 130308026], [130309884, 130309938], [130311384, 130311456], [130311539, 130311566], [130311904, 130311949], [130312042, 130312096], [130313124, 130313187], [130317208, 130317274], [130318600, 130318654], [130325774, 130325810], [130327745, 130327808], [130329492, 130329555], [130340664, 130340727], [130345328, 130345391], [130346162, 130346213], [130353433, 130353469], [130354542, 130354605], [130360495, 130360558], [130361675, 130361711], [130361830, 130361867], [130363834, 130363846], [130367912, 130368406], [130377519, 130377616], [130380480, 130381152], [130383846, 130383940], [130394045, 130395888]]	[[130279208, 130279272], [130281911, 130282508], [130283837, 130284458], [130285545, 130286106], [130286890, 130287448], [130289661, 130290237], [130292799, 130293369], [130300404, 130300748], [130300833, 130300912], [130305349, 130305504], [130307933, 130308026], [130309884, 130309938], [130311384, 130311456], [130311539, 130311566], [130311904, 130311949], [130312042, 130312096], [130313124, 130313187], [130317208, 130317274], [130318600, 130318654], [130325774, 130325810], [130327745, 130327808], [130329492, 130329555], [130340664, 130340727], [130345328, 130345391], [130346162, 130346213], [130353433, 130353469], [130354542, 130354605], [130360495, 130360558], [130361675, 130361711], [130361830, 130361867], [130363834, 130363846], [130367912, 130368406], [130377519, 130377616], [130380480, 130381152], [130383846, 130383940], [130394045, 130394241]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr3	GH03I130657	130657725	130663440	1	[{'connected_gene': 'PIK3R4', 'score': 17.58}, {'connected_gene': 'GC03P130677', 'score': 0.37}, {'connected_gene': 'GC03P130602', 'score': 0.22}, {'connected_gene': 'COL6A6', 'score': 0.11}]
chr3	GH03I130576	130576697	130576886	0.2	[{'connected_gene': 'COL6A6', 'score': 11.81}, {'connected_gene': 'GC03P130592', 'score': 0.37}]
chr3	GH03I130537	130537897	130538046	0.31	[{'connected_gene': 'COL6A6', 'score': 0.34}, {'connected_gene': 'GC03P130592', 'score': 0.23}]
chr3	GH03I130582	130582057	130582957	0.43	[{'connected_gene': 'COL6A6', 'score': 11.82}, {'connected_gene': 'GC03P130592', 'score': 0.39}]
chr3	GH03I130516	130516789	130518054	0.64	[{'connected_gene': 'COL6A6', 'score': 550.77}, {'connected_gene': 'GC03P130592', 'score': 0.18}]
chr3	GH03I130508	130508705	130509528	0.38	[{'connected_gene': 'COL6A6', 'score': 9.51}, {'connected_gene': 'GC03M130467', 'score': 0.26}]
chr3	GH03I130469	130469626	130470866	0.2	[{'connected_gene': 'GC03M130467', 'score': 550.77}, {'connected_gene': 'COL6A6', 'score': 0.25}, {'connected_gene': 'COL6A5', 'score': 0.13}]
chr3	GH03I130625	130625571	130627540	0.49	[{'connected_gene': 'GC03P130602', 'score': 0.34}, {'connected_gene': 'GC03P130677', 'score': 0.23}, {'connected_gene': 'COL6A6', 'score': 0.14}]
chr3	GH03I130569	130569591	130571869	0.2	[{'connected_gene': 'GC03P130592', 'score': 0.34}, {'connected_gene': 'COL6A6', 'score': 0.23}]
chr3	GH03I130608	130608730	130610791	0.38	[{'connected_gene': 'GC03P130602', 'score': 0.44}, {'connected_gene': 'GC03P130677', 'score': 0.2}, {'connected_gene': 'COL6A6', 'score': 0.16}]
chr3	GH03I130620	130620800	130622449	0.2	[{'connected_gene': 'GC03P130602', 'score': 0.37}, {'connected_gene': 'GC03P130677', 'score': 0.22}, {'connected_gene': 'COL6A6', 'score': 0.15}]
chr3	GH03I130627	130627577	130627726	0.31	[{'connected_gene': 'GC03P130602', 'score': 0.31}, {'connected_gene': 'GC03P130677', 'score': 0.23}, {'connected_gene': 'COL6A6', 'score': 0.14}]
chr3	GH03I130600	130600590	130602449	0.59	[{'connected_gene': 'GC03P130602', 'score': 550.77}, {'connected_gene': 'GC03M130583', 'score': 0.44}, {'connected_gene': 'COL6A6', 'score': 0.18}]