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
ENST00000278612	[[108027941, 108029746], [108031606, 108032741], [108032846, 108032907], [108040470, 108040579], [108040654, 108040770], [108042925, 108044578], [108046972, 108047101], [108047720, 108047817], [108055958, 108056046], [108056129, 108056221], [108057208, 108057296], [108058824, 108058906], [108059832, 108060057], [108061186, 108061227], [108062844, 108062917], [108064683, 108064744], [108068028, 108068147], [108093226, 108093369]]	[[108029668, 108029746], [108031606, 108032741], [108032846, 108032907], [108040470, 108040579], [108040654, 108040770], [108042925, 108044578], [108046972, 108047101], [108047720, 108047817], [108055958, 108056046], [108056129, 108056221], [108057208, 108057296], [108058824, 108058906], [108059832, 108060057], [108061186, 108061227], [108062844, 108062917], [108064683, 108064744], [108068028, 108068147], [108093226, 108093263]]
ENST00000530926	[[108029364, 108029746], [108032047, 108032410]]	None
ENST00000530859	[[108029519, 108029746], [108031606, 108032741], [108032846, 108032907], [108040470, 108040579], [108040654, 108040928]]	None
ENST00000527296	[[108031910, 108032762], [108032846, 108032892]]	[[108031910, 108032762], [108032846, 108032892]]
ENST00000610253	[[108041858, 108044578], [108046972, 108047101], [108047720, 108047817], [108055958, 108056046], [108056129, 108056221], [108057208, 108057296], [108058824, 108058906], [108059832, 108060064], [108061186, 108061227], [108062844, 108062917], [108064683, 108064744], [108068028, 108068147], [108093226, 108093363]]	None
ENST00000531384	[[108061186, 108061227], [108062844, 108062917], [108064683, 108064744], [108068028, 108068147], [108079147, 108079311], [108093226, 108093343]]	[[108079165, 108079311], [108093226, 108093263]]
NM_001321307	[[108027941, 108029746], [108031606, 108032762], [108032846, 108032907], [108040470, 108040579], [108040654, 108040770], [108042925, 108044578], [108046972, 108047101], [108047720, 108047817], [108055958, 108056046], [108056129, 108056221], [108057208, 108057296], [108058824, 108058906], [108059832, 108060057], [108061186, 108061227], [108062844, 108062917], [108064683, 108064744], [108068028, 108068147], [108093226, 108093365]]	[[108029668, 108029746], [108031606, 108032762], [108032846, 108032907], [108040470, 108040579], [108040654, 108040770], [108042925, 108044578], [108046972, 108047101], [108047720, 108047817], [108055958, 108056046], [108056129, 108056221], [108057208, 108057296], [108058824, 108058906], [108059832, 108060057], [108061186, 108061227], [108062844, 108062917], [108064683, 108064744], [108068028, 108068147], [108093226, 108093263]]
NM_002519	[[108028116, 108029746], [108031606, 108032741], [108032846, 108032907], [108040470, 108040579], [108040654, 108040770], [108042925, 108044578], [108046972, 108047101], [108047720, 108047817], [108055958, 108056046], [108056129, 108056221], [108057208, 108057296], [108058824, 108058906], [108059832, 108060057], [108061186, 108061227], [108062844, 108062917], [108064683, 108064744], [108068028, 108068147], [108093226, 108093365]]	[[108029668, 108029746], [108031606, 108032741], [108032846, 108032907], [108040470, 108040579], [108040654, 108040770], [108042925, 108044578], [108046972, 108047101], [108047720, 108047817], [108055958, 108056046], [108056129, 108056221], [108057208, 108057296], [108058824, 108058906], [108059832, 108060057], [108061186, 108061227], [108062844, 108062917], [108064683, 108064744], [108068028, 108068147], [108093226, 108093263]]

Promoter

Chrom	Start	End	Description
chr11	108093329	108093375	CAGE_peak_1_at_NPAT_5end
chr11	108093381	108093390	CAGE_peak_2_at_NPAT_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I107564	107564676	107566955	2.03	[{'connected_gene': 'ALKBH8', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 9.85}, {'connected_gene': 'SUCLG2P3', 'score': 0.34}]
chr11	GH11I108008	108008195	108011310	2.28	[{'connected_gene': 'CUL5', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 23.73}, {'connected_gene': 'CWF19L2', 'score': 13.15}, {'connected_gene': 'ALKBH8', 'score': 12.38}, {'connected_gene': 'DDX10', 'score': 11.58}, {'connected_gene': 'KDELC2', 'score': 10.92}, {'connected_gene': 'ACAT1', 'score': 9.73}, {'connected_gene': 'GC11P108085', 'score': 0.18}]
chr11	GH11I108251	108251507	108253740	0.38	[{'connected_gene': 'ACAT1', 'score': 21.37}, {'connected_gene': 'NPAT', 'score': 11.72}, {'connected_gene': 'ATM', 'score': 11.7}, {'connected_gene': 'ENSG00000255467', 'score': 10.35}, {'connected_gene': 'DDX10', 'score': 10.01}, {'connected_gene': 'GC11M108232', 'score': 0.34}, {'connected_gene': 'ENSG00000206967', 'score': 0.34}, {'connected_gene': 'PIR35860', 'score': 0.13}]
chr11	GH11I108246	108246344	108247842	0.56	[{'connected_gene': 'ACAT1', 'score': 21.51}, {'connected_gene': 'ATM', 'score': 11.75}, {'connected_gene': 'NPAT', 'score': 11.75}, {'connected_gene': 'ENSG00000255467', 'score': 10.36}, {'connected_gene': 'DDX10', 'score': 10.01}, {'connected_gene': 'C11orf65', 'score': 4.88}, {'connected_gene': 'GC11M108232', 'score': 0.37}, {'connected_gene': 'ENSG00000206967', 'score': 0.37}, {'connected_gene': 'PIR35860', 'score': 0.13}]
chr11	GH11I108248	108248398	108251331	0.31	[{'connected_gene': 'ACAT1', 'score': 20.4}, {'connected_gene': 'ATM', 'score': 11.72}, {'connected_gene': 'NPAT', 'score': 11.72}, {'connected_gene': 'ENSG00000255467', 'score': 10.36}, {'connected_gene': 'DDX10', 'score': 10.01}, {'connected_gene': 'GC11M108232', 'score': 0.34}, {'connected_gene': 'ENSG00000206967', 'score': 0.34}, {'connected_gene': 'PIR35860', 'score': 0.13}]
chr11	GH11I108245	108245028	108245813	0.38	[{'connected_gene': 'ACAT1', 'score': 14.51}, {'connected_gene': 'ATM', 'score': 11.75}, {'connected_gene': 'NPAT', 'score': 11.75}, {'connected_gene': 'ENSG00000255467', 'score': 10.36}, {'connected_gene': 'DDX10', 'score': 10.01}, {'connected_gene': 'GC11M108232', 'score': 0.37}, {'connected_gene': 'ENSG00000206967', 'score': 0.37}, {'connected_gene': 'PIR35860', 'score': 0.13}]
chr11	GH11I108204	108203954	108204799	0.58	[{'connected_gene': 'ACAT1', 'score': 12.16}, {'connected_gene': 'ATM', 'score': 0.37}, {'connected_gene': 'NPAT', 'score': 0.37}, {'connected_gene': 'ENSG00000255467', 'score': 0.18}]
chr11	GH11I108160	108160642	108161450	0.59	[{'connected_gene': 'ACAT1', 'score': 7.44}, {'connected_gene': 'ENSG00000255467', 'score': 0.28}, {'connected_gene': 'ATM', 'score': 0.21}, {'connected_gene': 'NPAT', 'score': 0.21}]
chr11	GH11I108191	108191412	108192862	0.31	[{'connected_gene': 'ACAT1', 'score': 14.85}, {'connected_gene': 'ATM', 'score': 10.94}, {'connected_gene': 'NPAT', 'score': 10.94}, {'connected_gene': 'ENSG00000255467', 'score': 0.19}]
chr11	GH11I108220	108219001	108219475	0.94	[{'connected_gene': 'ACAT1', 'score': 11.45}, {'connected_gene': 'ENSG00000255467', 'score': 11.45}, {'connected_gene': 'ATM', 'score': 0.77}, {'connected_gene': 'NPAT', 'score': 0.77}]
chr11	GH11I108187	108187013	108189070	0.2	[{'connected_gene': 'ACAT1', 'score': 12.83}, {'connected_gene': 'ATM', 'score': 9.49}, {'connected_gene': 'NPAT', 'score': 0.29}, {'connected_gene': 'ENSG00000255467', 'score': 0.2}]
chr11	GH11I108215	108215348	108217503	0.46	[{'connected_gene': 'ACAT1', 'score': 19.17}, {'connected_gene': 'ENSG00000255467', 'score': 10.9}, {'connected_gene': 'C11orf65', 'score': 5.11}, {'connected_gene': 'ATM', 'score': 0.44}, {'connected_gene': 'NPAT', 'score': 0.44}]
chr11	GH11I107718	107718934	107723495	0.66	[{'connected_gene': 'SLN', 'score': 559.71}, {'connected_gene': 'DDX10', 'score': 12.95}, {'connected_gene': 'NPAT', 'score': 9.94}, {'connected_gene': 'SLC35F2', 'score': 5.79}, {'connected_gene': 'LOC203930', 'score': 0.37}]
chr11	GH11I107927	107927601	107929601	1.96	[{'connected_gene': 'SLC35F2', 'score': 556.71}, {'connected_gene': 'RAB39A', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 34.06}, {'connected_gene': 'CWF19L2', 'score': 19.15}, {'connected_gene': 'CUL5', 'score': 10.34}, {'connected_gene': 'ALKBH8', 'score': 10.02}, {'connected_gene': 'DDX10', 'score': 9.91}, {'connected_gene': 'ASS1P13', 'score': 5.39}]
chr11	GH11I107839	107839002	107844577	1.17	[{'connected_gene': 'NPAT', 'score': 19.5}, {'connected_gene': 'SLC35F2', 'score': 13.68}, {'connected_gene': 'LOC105369477', 'score': 12.26}, {'connected_gene': 'RPLP2P3', 'score': 0.2}, {'connected_gene': 'LOC203930', 'score': 0.15}]
chr11	GH11I108219	108219775	108231947	2.31	[{'connected_gene': 'NPAT', 'score': 602.81}, {'connected_gene': 'ATM', 'score': 562.27}, {'connected_gene': 'ACAT1', 'score': 22.97}, {'connected_gene': 'DDX10', 'score': 19.44}, {'connected_gene': 'KDELC2', 'score': 17.39}, {'connected_gene': 'CWF19L2', 'score': 11.55}, {'connected_gene': 'ENSG00000255467', 'score': 10.92}, {'connected_gene': 'C11orf65', 'score': 4.91}, {'connected_gene': 'GC11M108232', 'score': 0.77}, {'connected_gene': 'ENSG00000206967', 'score': 0.77}]
chr11	GH11I108136	108136197	108136943	0.59	[{'connected_gene': 'ATM', 'score': 10.92}, {'connected_gene': 'NPAT', 'score': 10.92}, {'connected_gene': 'DDX10', 'score': 9.69}, {'connected_gene': 'ENSG00000255467', 'score': 0.39}, {'connected_gene': 'ACAT1', 'score': 0.37}]
chr11	GH11I108203	108203194	108203343	0.66	[{'connected_gene': 'ATM', 'score': 0.37}, {'connected_gene': 'NPAT', 'score': 0.37}, {'connected_gene': 'ENSG00000255467', 'score': 0.18}]
chr11	GH11I108465	108465922	108468650	2.03	[{'connected_gene': 'C11orf65', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 15.57}, {'connected_gene': 'KDELC2', 'score': 11.78}, {'connected_gene': 'DDX10', 'score': 10.06}, {'connected_gene': 'ACAT1', 'score': 9.33}, {'connected_gene': 'PIR35860', 'score': 0.16}]
chr11	GH11I108496	108496074	108499645	2.09	[{'connected_gene': 'KDELC2', 'score': 576.82}, {'connected_gene': 'LOC101928561', 'score': 550.77}, {'connected_gene': 'NPAT', 'score': 71.98}, {'connected_gene': 'DDX10', 'score': 14.8}, {'connected_gene': 'ACAT1', 'score': 11.57}, {'connected_gene': 'ATM', 'score': 11.56}, {'connected_gene': 'LOC105369479', 'score': 0.37}]
chr11	GH11I108198	108198547	108201216	1.27	[{'connected_gene': 'LOC105369477', 'score': 10.63}, {'connected_gene': 'DDX10', 'score': 9.71}, {'connected_gene': 'ATM', 'score': 0.34}, {'connected_gene': 'NPAT', 'score': 0.34}, {'connected_gene': 'ENSG00000255467', 'score': 0.18}]