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
ENST00000455511	[[110810704, 110812138], [110813870, 110814021], [110815197, 110815422], [110819556, 110819753], [110820647, 110820765], [110824131, 110824274], [110825543, 110825697], [110826316, 110826428], [110832905, 110833025], [110834070, 110834257], [110841331, 110841535]]	[[110811948, 110812138], [110813870, 110814021], [110815197, 110815422], [110819556, 110819753], [110820647, 110820765], [110824131, 110824274], [110825543, 110825697], [110826316, 110826428], [110832905, 110833025], [110834070, 110834257]]
ENST00000481473	[[110811282, 110812138], [110813870, 110814021], [110815197, 110815422], [110816352, 110816956]]	None
ENST00000552087	[[110811486, 110812138], [110813870, 110814021], [110819556, 110819663]]	[[110811948, 110812138], [110813870, 110814021], [110819556, 110819663]]
ENST00000486321	[[110812050, 110812138], [110813870, 110814021], [110815197, 110815706]]	None
ENST00000452721	[[110813271, 110814021], [110815197, 110815902]]	None
ENST00000450008	[[110813281, 110814021], [110815197, 110815422], [110819556, 110819753], [110820647, 110820765], [110824131, 110824274], [110825543, 110825697], [110826316, 110826428], [110832905, 110833025], [110834070, 110834257], [110841331, 110841535]]	[[110813866, 110814021], [110815197, 110815422], [110819556, 110819753], [110820647, 110820765], [110824131, 110824274], [110825543, 110825697], [110826316, 110826428], [110832905, 110833025], [110834070, 110834257]]
ENST00000471602	[[110813936, 110814021], [110815197, 110815422], [110819556, 110819753], [110820647, 110821070]]	None
ENST00000547199	[[110815385, 110815422], [110815509, 110815819]]	None
ENST00000548234	[[110815395, 110815422], [110819556, 110819753], [110820647, 110820765], [110824131, 110825082]]	None
ENST00000546720	[[110824133, 110824274], [110825543, 110825697], [110826316, 110826428], [110832905, 110833025], [110834070, 110834315]]	None
ENST00000552170	[[110824219, 110824274], [110825543, 110825697], [110826316, 110826428], [110832905, 110833025], [110841331, 110841469]]	[[110833000, 110833025], [110841331, 110841469]]
ENST00000464697	[[110825433, 110825697], [110832905, 110833025], [110834070, 110834257], [110841331, 110841494]]	None
NM_016238	[[110810704, 110812138], [110813870, 110814021], [110815197, 110815422], [110819556, 110819753], [110820647, 110820765], [110824131, 110824274], [110825543, 110825697], [110826316, 110826428], [110832905, 110833025], [110834070, 110834257], [110841331, 110841535]]	[[110811948, 110812138], [110813870, 110814021], [110815197, 110815422], [110819556, 110819753], [110820647, 110820765], [110824131, 110824274], [110825543, 110825697], [110826316, 110826428], [110832905, 110833025], [110834070, 110834257]]
NM_001137664	[[110813271, 110814021], [110815197, 110815422], [110819556, 110819753], [110820647, 110820765], [110824131, 110824274], [110825543, 110825697], [110826316, 110826428], [110832905, 110833025], [110834070, 110834257], [110841331, 110841535]]	[[110813866, 110814021], [110815197, 110815422], [110819556, 110819753], [110820647, 110820765], [110824131, 110824274], [110825543, 110825697], [110826316, 110826428], [110832905, 110833025], [110834070, 110834257]]

Promoter

Chrom	Start	End	Description
chr12	110825247	110825251	CAGE_peak_3_at_ANAPC7_5end
chr12	110834219	110834259	CAGE_peak_5_at_ANAPC7_5end
chr12	110841411	110841420	CAGE_peak_4_at_ANAPC7_5end
chr12	110841441	110841452	CAGE_peak_2_at_ANAPC7_5end
chr12	110841462	110841540	CAGE_peak_1_at_ANAPC7_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I109993	109993895	109996985	2.23	[{'connected_gene': 'GIT2', 'score': 556.47}, {'connected_gene': 'IFT81', 'score': 29.5}, {'connected_gene': 'UBE3B', 'score': 28.25}, {'connected_gene': 'ALKBH2', 'score': 20.88}, {'connected_gene': 'RNU4-32P', 'score': 19.11}, {'connected_gene': 'ANAPC7', 'score': 10.15}, {'connected_gene': 'GLTP', 'score': 5.89}, {'connected_gene': 'ENSG00000277299', 'score': 0.25}]
chr12	GH12I109501	109501953	109505407	0.56	[{'connected_gene': 'SART3', 'score': 23.21}, {'connected_gene': 'KCTD10', 'score': 19.95}, {'connected_gene': 'IFT81', 'score': 12.76}, {'connected_gene': 'ALKBH2', 'score': 12.63}, {'connected_gene': 'UBE3B', 'score': 11.38}, {'connected_gene': 'ENSG00000255655', 'score': 10.96}, {'connected_gene': 'RNU4-32P', 'score': 10.69}, {'connected_gene': 'MVK', 'score': 10.69}, {'connected_gene': 'MMAB', 'score': 10.68}, {'connected_gene': 'ANAPC7', 'score': 10.67}, {'connected_gene': 'FAM222A', 'score': 10.55}, {'connected_gene': 'TRPV4', 'score': 10.32}, {'connected_gene': 'MYO1H', 'score': 7.45}, {'connected_gene': 'PIR31921', 'score': 0.44}, {'connected_gene': 'GC12P109501', 'score': 0.44}, {'connected_gene': 'PIR34953', 'score': 0.29}]
chr12	GH12I110660	110660277	110663411	1.21	[{'connected_gene': 'TCTN1', 'score': 12.54}, {'connected_gene': 'HVCN1', 'score': 11.17}, {'connected_gene': 'FAM216A', 'score': 10.48}, {'connected_gene': 'ANAPC7', 'score': 4.53}, {'connected_gene': 'RN7SL387P', 'score': 0.28}]
chr12	GH12I110887	110887401	110888746	1.08	[{'connected_gene': 'PCNPP1', 'score': 16.59}, {'connected_gene': 'IFT81', 'score': 11.13}, {'connected_gene': 'MAPKAPK5', 'score': 10.1}, {'connected_gene': 'ANAPC7', 'score': 9.79}, {'connected_gene': 'GC12P110917', 'score': 0.31}, {'connected_gene': 'CCDC63', 'score': 0.26}]
chr12	GH12I110499	110499048	110503028	2.13	[{'connected_gene': 'VPS29', 'score': 550.77}, {'connected_gene': 'RAD9B', 'score': 550.77}, {'connected_gene': 'ENSG00000278993', 'score': 550.77}, {'connected_gene': 'IFT81', 'score': 51.74}, {'connected_gene': 'ARPC3', 'score': 23.57}, {'connected_gene': 'FAM216A', 'score': 23.52}, {'connected_gene': 'ANAPC7', 'score': 19.92}, {'connected_gene': 'GPN3', 'score': 11.53}, {'connected_gene': 'RNU4-32P', 'score': 10.98}, {'connected_gene': 'HSPA8P14', 'score': 10.97}, {'connected_gene': 'ANKRD13A', 'score': 10.95}, {'connected_gene': 'TCHP', 'score': 9.69}, {'connected_gene': 'GC12M110497', 'score': 0.77}, {'connected_gene': 'ENSG00000202335', 'score': 0.77}]
chr12	GH12I110402	110402400	110404832	2.02	[{'connected_gene': 'ANAPC7', 'score': 550.77}, {'connected_gene': 'ARPC3', 'score': 13.09}, {'connected_gene': 'IFT81', 'score': 11.88}, {'connected_gene': 'FAM216A', 'score': 9.12}, {'connected_gene': 'PIR50479', 'score': 0.44}, {'connected_gene': 'GC12M110397', 'score': 0.44}, {'connected_gene': 'ENSG00000258210', 'score': 0.26}]
chr12	GH12I110377	110377154	110378252	0.43	[{'connected_gene': 'GPN3', 'score': 34.98}, {'connected_gene': 'FAM216A', 'score': 8.68}, {'connected_gene': 'PIR50264', 'score': 0.77}, {'connected_gene': 'PIR42470', 'score': 0.37}, {'connected_gene': 'ANAPC7', 'score': 0.31}]
chr12	GH12I110378	110378279	110380318	0.2	[{'connected_gene': 'FAM216A', 'score': 9.1}, {'connected_gene': 'PIR50264', 'score': 0.44}, {'connected_gene': 'PIR42470', 'score': 0.37}, {'connected_gene': 'ANAPC7', 'score': 0.34}]
chr12	GH12I110384	110384044	110385227	0.49	[{'connected_gene': 'ARPC3', 'score': 13.15}, {'connected_gene': 'GPN3', 'score': 11.4}, {'connected_gene': 'ANKRD13A', 'score': 11.29}, {'connected_gene': 'GIT2', 'score': 11.29}, {'connected_gene': 'C12orf76', 'score': 10.32}, {'connected_gene': 'GLTP', 'score': 4.31}, {'connected_gene': 'IFT81', 'score': 4.07}, {'connected_gene': 'PIR50264', 'score': 0.39}, {'connected_gene': 'PIR42470', 'score': 0.39}, {'connected_gene': 'ANAPC7', 'score': 0.37}]
chr12	GH12I110368	110368401	110368600	0.63	[{'connected_gene': 'GC12P110369', 'score': 550.77}, {'connected_gene': 'ANAPC7', 'score': 4.69}, {'connected_gene': 'IFT81', 'score': 4.07}, {'connected_gene': 'RN7SL769P', 'score': 0.44}, {'connected_gene': 'GC12M110365', 'score': 0.44}]
chr12	GH12I110375	110375839	110376473	0.2	[{'connected_gene': 'PIR50264', 'score': 550.77}, {'connected_gene': 'PIR42470', 'score': 0.34}, {'connected_gene': 'ANAPC7', 'score': 0.31}]
chr12	GH12I110372	110372778	110374542	0.51	[{'connected_gene': 'PIR50264', 'score': 550.77}, {'connected_gene': 'FAM216A', 'score': 8.66}, {'connected_gene': 'GC12P110369', 'score': 0.77}, {'connected_gene': 'ANAPC7', 'score': 0.29}]