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
ENST00000310248	[[48596080, 48597170]]	[[48596121, 48597075]]
NM_001004134	[[48596121, 48597075]]	[[48596121, 48597075]]

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I047899	47899297	47902394	1.23	[{'connected_gene': 'VDR', 'score': 19.28}, {'connected_gene': 'TMEM106C', 'score': 5.33}, {'connected_gene': 'ZNF641', 'score': 1.79}, {'connected_gene': 'OR10AD1', 'score': 1.15}, {'connected_gene': 'GC12P047906', 'score': 0.77}, {'connected_gene': 'ENSG00000205537', 'score': 0.37}]
chr12	GH12I048022	48021606	48021638	0.53	[{'connected_gene': 'VDR', 'score': 10.07}, {'connected_gene': 'ENSG00000205537', 'score': 9.18}, {'connected_gene': 'OR10AD1', 'score': 8.53}, {'connected_gene': 'ENSG00000257955', 'score': 0.77}, {'connected_gene': 'COL2A1', 'score': 0.77}, {'connected_gene': 'LOC105369750', 'score': 0.39}]
chr12	GH12I047891	47891467	47891610	0.76	[{'connected_gene': 'VDR', 'score': 3.26}, {'connected_gene': 'ZNF641', 'score': 2.61}, {'connected_gene': 'ASB8', 'score': 2.03}, {'connected_gene': 'OR10AD1', 'score': 1.3}, {'connected_gene': 'ENSG00000205537', 'score': 0.44}, {'connected_gene': 'GC12P047906', 'score': 0.39}]
chr12	GH12I047804	47804931	47830565	2.8	[{'connected_gene': 'HDAC7', 'score': 569.37}, {'connected_gene': 'ENSG00000274737', 'score': 550.77}, {'connected_gene': 'LOC390314', 'score': 23.54}, {'connected_gene': 'KANSL2', 'score': 22.42}, {'connected_gene': 'CCNT1', 'score': 16.32}, {'connected_gene': 'RAPGEF3', 'score': 16.3}, {'connected_gene': 'ASB8', 'score': 13.73}, {'connected_gene': 'VDR', 'score': 11.95}, {'connected_gene': 'SENP1', 'score': 11.72}, {'connected_gene': 'SLC48A1', 'score': 11.5}, {'connected_gene': 'LOC102725258', 'score': 11.22}, {'connected_gene': 'RPL37P19', 'score': 11.15}, {'connected_gene': 'ENSG00000205537', 'score': 11.13}, {'connected_gene': 'ENSG00000268069', 'score': 10.67}, {'connected_gene': 'ENDOU', 'score': 10.41}, {'connected_gene': 'TMEM106C', 'score': 10.15}, {'connected_gene': 'CCDC184', 'score': 9.59}, {'connected_gene': 'PFKM', 'score': 4.59}, {'connected_gene': 'OR10AD1', 'score': 3.25}, {'connected_gene': 'RPAP3', 'score': 2.28}, {'connected_gene': 'LINC02354', 'score': 0.44}, {'connected_gene': 'ENSG00000276691', 'score': 0.31}]
chr12	GH12I047831	47831852	47836802	1.55	[{'connected_gene': 'HDAC7', 'score': 565.29}, {'connected_gene': 'LOC390314', 'score': 25.44}, {'connected_gene': 'SENP1', 'score': 22.41}, {'connected_gene': 'LOC102725258', 'score': 21.42}, {'connected_gene': 'CCNT1', 'score': 16.64}, {'connected_gene': 'CCDC184', 'score': 15.2}, {'connected_gene': 'H1FNT', 'score': 12.05}, {'connected_gene': 'KANSL2', 'score': 11.74}, {'connected_gene': 'RPAP3', 'score': 11.51}, {'connected_gene': 'CACNB3', 'score': 11.43}, {'connected_gene': 'RPL37P19', 'score': 11.15}, {'connected_gene': 'OR5BK1P', 'score': 10.31}, {'connected_gene': 'ENSG00000268069', 'score': 5.65}, {'connected_gene': 'OR10AD1', 'score': 2.74}, {'connected_gene': 'LINC02354', 'score': 0.44}, {'connected_gene': 'ENSG00000205537', 'score': 0.25}]
chr12	GH12I048216	48216938	48217087	0.38	[{'connected_gene': 'ASB8', 'score': 10.67}, {'connected_gene': 'CCDC184', 'score': 10.41}, {'connected_gene': 'ZNF641', 'score': 7.84}, {'connected_gene': 'OR10AD1', 'score': 0.39}, {'connected_gene': 'LOC102725258', 'score': 0.34}, {'connected_gene': 'LOC105369753', 'score': 0.16}]
chr12	GH12I048282	48282201	48283600	0.59	[{'connected_gene': 'ZNF641', 'score': 62.8}, {'connected_gene': 'LOC105369753', 'score': 0.34}, {'connected_gene': 'OR10AD1', 'score': 0.18}]
chr12	GH12I048186	48186195	48186561	0.64	[{'connected_gene': 'ZNF641', 'score': 12.36}, {'connected_gene': 'LOC102725258', 'score': 11.71}, {'connected_gene': 'OR10AD1', 'score': 7.02}, {'connected_gene': 'RPL32P27', 'score': 4.32}, {'connected_gene': 'OR8S1', 'score': 3.29}, {'connected_gene': 'ENSG00000279875', 'score': 0.77}, {'connected_gene': 'CCDC184', 'score': 0.77}]
chr12	GH12I048296	48296118	48297641	1.05	[{'connected_gene': 'ZNF641', 'score': 32.85}, {'connected_gene': 'RPL37P19', 'score': 21.84}, {'connected_gene': 'DDX23', 'score': 15.81}, {'connected_gene': 'CCNT1', 'score': 13.31}, {'connected_gene': 'LOC390314', 'score': 11.3}, {'connected_gene': 'LMBR1L', 'score': 10.19}, {'connected_gene': 'SENP1', 'score': 10.07}, {'connected_gene': 'HDAC7', 'score': 10.01}, {'connected_gene': 'KMT2D', 'score': 9.8}, {'connected_gene': 'CCDC184', 'score': 9.63}, {'connected_gene': 'ASB8', 'score': 9.62}, {'connected_gene': 'LOC105369753', 'score': 0.39}, {'connected_gene': 'OR10AD1', 'score': 0.16}]
chr12	GH12I048212	48212377	48214200	0.83	[{'connected_gene': 'ZNF641', 'score': 35.29}, {'connected_gene': 'RPL37P19', 'score': 20.69}, {'connected_gene': 'H1FNT', 'score': 19.41}, {'connected_gene': 'ASB8', 'score': 10.69}, {'connected_gene': 'CCDC184', 'score': 10.43}, {'connected_gene': 'OR10AD1', 'score': 0.44}, {'connected_gene': 'LOC102725258', 'score': 0.37}, {'connected_gene': 'LOC105369753', 'score': 0.16}]
chr12	GH12I048278	48278952	48280845	0.66	[{'connected_gene': 'ZNF641', 'score': 62.79}, {'connected_gene': 'RPL37P19', 'score': 21.84}, {'connected_gene': 'LOC102725258', 'score': 12.7}, {'connected_gene': 'H1FNT', 'score': 11.25}, {'connected_gene': 'LOC105369753', 'score': 0.31}, {'connected_gene': 'OR10AD1', 'score': 0.19}]
chr12	GH12I048196	48196977	48201377	1.73	[{'connected_gene': 'ZNF641', 'score': 28.72}, {'connected_gene': 'RPL37P19', 'score': 27.62}, {'connected_gene': 'LOC102725258', 'score': 24.62}, {'connected_gene': 'SENP1', 'score': 20.24}, {'connected_gene': 'LMBR1L', 'score': 18.58}, {'connected_gene': 'DDX23', 'score': 15.81}, {'connected_gene': 'CCNT1', 'score': 13.29}, {'connected_gene': 'LOC390314', 'score': 11.3}, {'connected_gene': 'LOC105369760', 'score': 10.63}, {'connected_gene': 'PFKM', 'score': 10.25}, {'connected_gene': 'HDAC7', 'score': 10.02}, {'connected_gene': 'KMT2D', 'score': 9.8}, {'connected_gene': 'H1FNT', 'score': 5.07}, {'connected_gene': 'OR10AD1', 'score': 0.44}]
chr12	GH12I048283	48282034	48282127	0.65	[{'connected_gene': 'LOC105369753', 'score': 0.31}, {'connected_gene': 'OR10AD1', 'score': 0.18}]
chr12	GH12I048286	48286172	48286629	0.6	[{'connected_gene': 'LOC102725258', 'score': 12.31}, {'connected_gene': 'LOC105369753', 'score': 0.34}, {'connected_gene': 'OR10AD1', 'score': 0.18}]