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
ENST00000380243	[[99977602, 99981672], [99982524, 99982623], [99983424, 99983520], [99988469, 99988577], [100002351, 100002425], [100069503, 100070363]]	[[99981582, 99981672], [99982524, 99982623], [99983424, 99983520], [99988469, 99988577], [100002351, 100002425], [100069503, 100070296]]
ENST00000554996	[[99981536, 99981672], [99982524, 99982623], [99983424, 99983520], [99988469, 99988577], [100002351, 100002425], [100046357, 100046463]]	[[99981582, 99981672], [99982524, 99982623], [99983424, 99983520], [99988469, 99988577], [100002351, 100002425], [100046357, 100046463]]
ENST00000554877	[[99981636, 99981672], [99982524, 99982623], [99983424, 99983520], [99988469, 99988577], [100002351, 100002425], [100042799, 100042929]]	[[99981636, 99981672], [99982524, 99982623], [99983424, 99983430]]
ENST00000556348	[[99982601, 99982623], [99983424, 99983520], [99988469, 99988577], [100002351, 100002425], [100039056, 100039312]]	[[99982601, 99982623], [99983424, 99983520], [99988469, 99988577], [100002351, 100002425], [100039056, 100039105]]
ENST00000557769	[[99978368, 99981672], [99982524, 99982623], [99983424, 99983520], [99988469, 99988577], [99988714, 99988900]]	[[99981582, 99981672], [99982524, 99982623], [99983424, 99983430]]
ENST00000557576	[[99981297, 99981672], [99982524, 99982623], [99988469, 99988577], [100002351, 100002425]]	[[99981582, 99981672], [99982524, 99982623], [99988469, 99988577], [100002351, 100002425]]
ENST00000555822	[[99981423, 99981672], [99982524, 99982623], [99983424, 99983520], [99988469, 99988577], [99988904, 99989282]]	[[99981582, 99981672], [99982524, 99982623], [99983424, 99983430]]
NM_001144995	[[99977602, 99981672], [99982524, 99982623], [99983424, 99983520], [99988469, 99988577], [100002351, 100002425], [100069503, 100070727]]	[[99981582, 99981672], [99982524, 99982623], [99983424, 99983520], [99988469, 99988577], [100002351, 100002425], [100069503, 100070296]]

Promoter

Chrom	Start	End	Description
chr14	100070458	100070467	CAGE_peak_2_at_CCDC85C_5end
chr14	100070508	100070561	CAGE_peak_1_at_CCDC85C_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr14	GH14I099539	99539908	99543012	0.74	[{'connected_gene': 'CCNK', 'score': 12.02}, {'connected_gene': 'CCDC85C', 'score': 9.16}, {'connected_gene': 'GC14M099518', 'score': 0.44}, {'connected_gene': 'GC14P099584', 'score': 0.26}]
chr14	GH14I099544	99544272	99545294	0.63	[{'connected_gene': 'HHIPL1', 'score': 11.37}, {'connected_gene': 'CCDC85C', 'score': 9.35}, {'connected_gene': 'GC14M099518', 'score': 0.44}, {'connected_gene': 'GC14P099584', 'score': 0.28}]
chr14	GH14I099545	99545724	99545873	0.49	[{'connected_gene': 'HHIPL1', 'score': 11.37}, {'connected_gene': 'GC14M099518', 'score': 0.44}, {'connected_gene': 'GC14P099584', 'score': 0.28}, {'connected_gene': 'CCDC85C', 'score': 0.22}]
chr14	GH14I099615	99615310	99617597	0.85	[{'connected_gene': 'HHIPL1', 'score': 13.91}, {'connected_gene': 'EML1', 'score': 9.94}, {'connected_gene': 'BEGAIN', 'score': 9.74}, {'connected_gene': 'ENSG00000247970', 'score': 8.69}, {'connected_gene': 'CCDC85C', 'score': 5.94}, {'connected_gene': 'EVL', 'score': 5.24}, {'connected_gene': 'WARS', 'score': 4.64}, {'connected_gene': 'GC14P099614', 'score': 0.77}, {'connected_gene': 'GC14P099640', 'score': 0.34}]
chr14	GH14I099550	99550362	99556407	1.18	[{'connected_gene': 'YY1', 'score': 12.28}, {'connected_gene': 'WDR25', 'score': 10.5}, {'connected_gene': 'CCDC85C', 'score': 10.12}, {'connected_gene': 'GC14M099518', 'score': 0.37}, {'connected_gene': 'GC14P099584', 'score': 0.31}]
chr14	GH14I099521	99521902	99523948	1.15	[{'connected_gene': 'RPL3P4', 'score': 11.0}, {'connected_gene': 'WDR25', 'score': 9.98}, {'connected_gene': 'CCNK', 'score': 5.63}, {'connected_gene': 'PIR34457', 'score': 0.44}, {'connected_gene': 'LOC105370661', 'score': 0.39}, {'connected_gene': 'GC14M099518', 'score': 0.39}, {'connected_gene': 'CCDC85C', 'score': 0.18}]
chr14	GH14I099560	99560023	99577989	2.14	[{'connected_gene': 'CCDC85C', 'score': 23.67}, {'connected_gene': 'CCNK', 'score': 14.59}, {'connected_gene': 'ENSG00000234648', 'score': 12.81}, {'connected_gene': 'ENSG00000247970', 'score': 12.0}, {'connected_gene': 'HHIPL1', 'score': 11.22}, {'connected_gene': 'RPL3P4', 'score': 11.18}, {'connected_gene': 'EML1', 'score': 10.12}, {'connected_gene': 'SETD3', 'score': 1.64}, {'connected_gene': 'GC14P099584', 'score': 0.39}, {'connected_gene': 'GC14M099518', 'score': 0.29}]
chr14	GH14I099594	99594642	99606693	2.73	[{'connected_gene': 'CCDC85C', 'score': 558.0}, {'connected_gene': 'HHIPL1', 'score': 14.29}, {'connected_gene': 'WDR25', 'score': 14.17}, {'connected_gene': 'CCNK', 'score': 12.65}, {'connected_gene': 'ENSG00000247970', 'score': 11.56}, {'connected_gene': 'BEGAIN', 'score': 9.75}, {'connected_gene': 'WARS', 'score': 4.64}, {'connected_gene': 'PIR41630', 'score': 0.77}]
chr14	GH14I099548	99548236	99550238	0.81	[{'connected_gene': 'CCDC85C', 'score': 19.6}, {'connected_gene': 'ENSG00000247970', 'score': 11.84}, {'connected_gene': 'HHIPL1', 'score': 11.37}, {'connected_gene': 'EML1', 'score': 10.74}, {'connected_gene': 'GC14M099518', 'score': 0.39}, {'connected_gene': 'GC14P099584', 'score': 0.29}]
chr14	GH14I099530	99530259	99532494	1.02	[{'connected_gene': 'CCDC85C', 'score': 7.75}, {'connected_gene': 'LOC105370661', 'score': 0.77}, {'connected_gene': 'GC14M099518', 'score': 0.77}, {'connected_gene': 'PIR34457', 'score': 0.39}, {'connected_gene': 'CCNK', 'score': 0.23}]
chr14	GH14I099538	99538725	99539341	0.69	[{'connected_gene': 'CCDC85C', 'score': 7.72}, {'connected_gene': 'LOC105370661', 'score': 0.77}, {'connected_gene': 'GC14M099518', 'score': 0.77}, {'connected_gene': 'GC14P099584', 'score': 0.26}]
chr14	GH14I099559	99559468	99559912	0.38	[{'connected_gene': 'CCDC85C', 'score': 9.38}, {'connected_gene': 'GC14P099584', 'score': 0.34}, {'connected_gene': 'GC14M099518', 'score': 0.34}]
chr14	GH14I099557	99557162	99557736	0.31	[{'connected_gene': 'CCDC85C', 'score': 10.14}, {'connected_gene': 'GC14M099518', 'score': 0.34}, {'connected_gene': 'GC14P099584', 'score': 0.31}]
chr14	GH14I099578	99578221	99581676	1.44	[{'connected_gene': 'CCDC85C', 'score': 1.58}, {'connected_gene': 'GC14P099584', 'score': 0.77}, {'connected_gene': 'GC14M099518', 'score': 0.26}]
chr14	GH14I099558	99558425	99559270	0.31	[{'connected_gene': 'CCDC85C', 'score': 9.57}, {'connected_gene': 'GC14P099584', 'score': 0.34}, {'connected_gene': 'GC14M099518', 'score': 0.34}]
chr14	GH14I099531	99530218	99530253	0.51	[{'connected_gene': 'LOC105370661', 'score': 0.44}, {'connected_gene': 'GC14M099518', 'score': 0.44}, {'connected_gene': 'PIR34457', 'score': 0.39}, {'connected_gene': 'CCNK', 'score': 0.25}, {'connected_gene': 'CCDC85C', 'score': 0.19}]
chr14	GH14I099534	99534391	99535770	0.63	[{'connected_gene': 'LOC105370661', 'score': 550.77}, {'connected_gene': 'GC14M099518', 'score': 550.77}, {'connected_gene': 'PIR34457', 'score': 0.37}, {'connected_gene': 'CCNK', 'score': 0.23}, {'connected_gene': 'CCDC85C', 'score': 0.2}]
chr14	GH14I099536	99536947	99538699	1	[{'connected_gene': 'LOC105370661', 'score': 550.77}, {'connected_gene': 'GC14M099518', 'score': 550.77}, {'connected_gene': 'CCDC85C', 'score': 8.33}, {'connected_gene': 'GC14P099584', 'score': 0.25}]
chr14	GH14I099502	99502357	99504315	0.58	[{'connected_gene': 'GC14M099501', 'score': 550.77}, {'connected_gene': 'CCNK', 'score': 11.29}, {'connected_gene': 'SETD3', 'score': 11.29}, {'connected_gene': 'ENSG00000247970', 'score': 10.61}, {'connected_gene': 'CCDC85C', 'score': 10.61}, {'connected_gene': 'ENSG00000258749', 'score': 0.44}]
chr14	GH14I099509	99509344	99509473	0.58	[{'connected_gene': 'ENSG00000258749', 'score': 0.77}, {'connected_gene': 'GC14M099501', 'score': 0.44}, {'connected_gene': 'CCNK', 'score': 0.31}, {'connected_gene': 'CCDC85C', 'score': 0.16}]
chr14	GH14I099510	99509004	99509113	0.8	[{'connected_gene': 'ENSG00000258749', 'score': 0.77}, {'connected_gene': 'GC14M099501', 'score': 0.44}, {'connected_gene': 'CCNK', 'score': 0.31}, {'connected_gene': 'CCDC85C', 'score': 0.15}]
chr14	GH14I099512	99511104	99512613	0.4	[{'connected_gene': 'ENSG00000258749', 'score': 550.77}, {'connected_gene': 'GC14M099501', 'score': 0.44}, {'connected_gene': 'CCNK', 'score': 0.29}, {'connected_gene': 'CCDC85C', 'score': 0.16}]
chr14	GH14I099511	99509571	99510306	0.38	[{'connected_gene': 'ENSG00000258749', 'score': 0.77}, {'connected_gene': 'GC14M099501', 'score': 0.44}, {'connected_gene': 'CCNK', 'score': 0.31}, {'connected_gene': 'CCDC85C', 'score': 0.16}]
chr14	GH14I099516	99516394	99517309	0.46	[{'connected_gene': 'PIR34457', 'score': 550.77}, {'connected_gene': 'SETD3', 'score': 5.57}, {'connected_gene': 'LOC105370661', 'score': 0.37}, {'connected_gene': 'CCNK', 'score': 0.28}, {'connected_gene': 'CCDC85C', 'score': 0.17}]
chr14	GH14I099593	99593433	99593808	0.2	[{'connected_gene': 'PIR41630', 'score': 0.77}, {'connected_gene': 'ENSG00000200506', 'score': 0.39}, {'connected_gene': 'CCDC85C', 'score': 0.39}]
chr14	GH14I099585	99585197	99587400	0.99	[{'connected_gene': 'ENSG00000200506', 'score': 0.77}, {'connected_gene': 'PIR41630', 'score': 0.44}, {'connected_gene': 'CCDC85C', 'score': 0.37}]
chr14	GH14I099589	99589944	99590093	0.51	[{'connected_gene': 'PIR41630', 'score': 0.44}, {'connected_gene': 'ENSG00000200506', 'score': 0.44}, {'connected_gene': 'CCDC85C', 'score': 0.39}]
chr14	GH14I099590	99590535	99591426	1.03	[{'connected_gene': 'PIR41630', 'score': 0.44}, {'connected_gene': 'ENSG00000200506', 'score': 0.44}, {'connected_gene': 'CCDC85C', 'score': 0.39}]
chr14	GH14I099588	99588537	99589453	0.69	[{'connected_gene': 'PIR41630', 'score': 0.44}, {'connected_gene': 'ENSG00000200506', 'score': 0.44}, {'connected_gene': 'CCDC85C', 'score': 0.37}]
chr14	GH14I099592	99592401	99593000	0.58	[{'connected_gene': 'PIR41630', 'score': 0.77}, {'connected_gene': 'ENSG00000200506', 'score': 0.44}, {'connected_gene': 'CCDC85C', 'score': 0.39}]
chr14	GH14I099519	99519828	99520340	0.49	[{'connected_gene': 'PIR34457', 'score': 0.77}, {'connected_gene': 'LOC105370661', 'score': 0.37}, {'connected_gene': 'GC14M099518', 'score': 0.37}, {'connected_gene': 'CCNK', 'score': 0.28}, {'connected_gene': 'CCDC85C', 'score': 0.18}]
chr14	GH14I099518	99518504	99518673	1.01	[{'connected_gene': 'PIR34457', 'score': 0.77}, {'connected_gene': 'LOC105370661', 'score': 0.37}, {'connected_gene': 'GC14M099518', 'score': 0.37}, {'connected_gene': 'CCNK', 'score': 0.28}, {'connected_gene': 'CCDC85C', 'score': 0.17}]
chr14	GH14I099524	99524324	99525515	1.15	[{'connected_gene': 'PIR34457', 'score': 0.44}, {'connected_gene': 'LOC105370661', 'score': 0.39}, {'connected_gene': 'GC14M099518', 'score': 0.39}, {'connected_gene': 'CCNK', 'score': 0.26}, {'connected_gene': 'CCDC85C', 'score': 0.18}]
chr14	GH14I099520	99520884	99521013	0.69	[{'connected_gene': 'PIR34457', 'score': 0.77}, {'connected_gene': 'LOC105370661', 'score': 0.37}, {'connected_gene': 'GC14M099518', 'score': 0.37}, {'connected_gene': 'CCNK', 'score': 0.28}, {'connected_gene': 'CCDC85C', 'score': 0.18}]