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

Promoter

Chrom	Start	End	Description
chr12	113772902	113772954	CAGE_peak_1_at_SLC24A6_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I113303	113303016	113303185	0.66	[{'connected_gene': 'RBM19', 'score': 20.53}, {'connected_gene': 'DDX54', 'score': 9.92}, {'connected_gene': 'RASAL1', 'score': 8.13}, {'connected_gene': 'GC12P113300', 'score': 0.77}, {'connected_gene': 'GC12M113308', 'score': 0.39}, {'connected_gene': 'SLC8B1', 'score': 0.22}]
chr12	GH12I113127	113127566	113128817	0.87	[{'connected_gene': 'RBM19', 'score': 43.76}, {'connected_gene': 'DDX54', 'score': 18.36}, {'connected_gene': 'RPL6', 'score': 13.71}, {'connected_gene': 'RASAL1', 'score': 12.13}, {'connected_gene': 'SLC8B1', 'score': 12.05}, {'connected_gene': 'GC12P113070', 'score': 0.22}]
chr12	GH12I113183	113183796	113187512	2.09	[{'connected_gene': 'RITA1', 'score': 563.38}, {'connected_gene': 'DDX54', 'score': 560.78}, {'connected_gene': 'HECTD4', 'score': 26.35}, {'connected_gene': 'RBM19', 'score': 23.1}, {'connected_gene': 'RPL6', 'score': 13.7}, {'connected_gene': 'SLC8B1', 'score': 12.07}, {'connected_gene': 'CFAP73', 'score': 11.1}, {'connected_gene': 'DYNLL1P4', 'score': 10.28}, {'connected_gene': 'GC12M113186', 'score': 0.77}, {'connected_gene': 'ENSG00000257286', 'score': 0.44}]
chr12	GH12I113213	113213828	113216284	1.62	[{'connected_gene': 'RITA1', 'score': 11.49}, {'connected_gene': 'SDSL', 'score': 11.4}, {'connected_gene': 'SLC8B1', 'score': 6.25}, {'connected_gene': 'TPCN1', 'score': 1.98}, {'connected_gene': 'OAS2', 'score': 1.45}, {'connected_gene': 'OAS3', 'score': 1.39}, {'connected_gene': 'OAS1', 'score': 1.27}, {'connected_gene': 'IQCD', 'score': 0.44}, {'connected_gene': 'PIR59579', 'score': 0.44}]
chr12	GH12I113333	113333363	113335765	1.98	[{'connected_gene': 'SLC8B1', 'score': 561.95}, {'connected_gene': 'RBM19', 'score': 34.55}, {'connected_gene': 'PLBD2', 'score': 12.05}, {'connected_gene': 'RPL6', 'score': 10.12}, {'connected_gene': 'GC12M113308', 'score': 0.37}]
chr12	GH12I112407	112407240	112410226	2.28	[{'connected_gene': 'RPL6', 'score': 572.02}, {'connected_gene': 'ADAM1A', 'score': 30.79}, {'connected_gene': 'MAPKAPK5', 'score': 25.9}, {'connected_gene': 'SLC8B1', 'score': 20.09}, {'connected_gene': 'NAA25', 'score': 13.64}, {'connected_gene': 'RPS2P41', 'score': 9.78}, {'connected_gene': 'TMEM116', 'score': 5.17}, {'connected_gene': 'PTPN11', 'score': 0.44}, {'connected_gene': 'GC12M112409', 'score': 0.39}, {'connected_gene': 'HECTD4', 'score': 0.31}]
chr12	GH12I112976	112976522	112981639	2.07	[{'connected_gene': 'OAS2', 'score': 566.9}, {'connected_gene': 'GC12M112972', 'score': 550.77}, {'connected_gene': 'OAS3', 'score': 41.63}, {'connected_gene': 'DTX1', 'score': 11.33}, {'connected_gene': 'OAS1', 'score': 6.12}, {'connected_gene': 'SLC8B1', 'score': 3.04}, {'connected_gene': 'SDSL', 'score': 2.45}, {'connected_gene': 'GC12M112984', 'score': 0.44}, {'connected_gene': 'ENSG00000257452', 'score': 0.28}]
chr12	GH12I113356	113356590	113360621	2.24	[{'connected_gene': 'PLBD2', 'score': 579.24}, {'connected_gene': 'SLC8B1', 'score': 558.54}, {'connected_gene': 'RBM19', 'score': 26.3}, {'connected_gene': 'SDSL', 'score': 20.86}, {'connected_gene': 'RITA1', 'score': 10.66}, {'connected_gene': 'DDX54', 'score': 10.66}, {'connected_gene': 'ENSG00000201208', 'score': 10.65}, {'connected_gene': 'RPL6', 'score': 10.13}, {'connected_gene': 'SDS', 'score': 1.43}, {'connected_gene': 'LOC105369989', 'score': 0.77}]
chr12	GH12I113349	113349163	113349945	0.49	[{'connected_gene': 'PLBD2', 'score': 6.91}, {'connected_gene': 'SLC8B1', 'score': 0.44}, {'connected_gene': 'GC12M113308', 'score': 0.29}]
chr12	GH12I113325	113325420	113327579	0.72	[{'connected_gene': 'PLBD2', 'score': 11.64}, {'connected_gene': 'IQCD', 'score': 11.26}, {'connected_gene': 'TPCN1', 'score': 11.26}, {'connected_gene': 'GC12M113308', 'score': 0.44}, {'connected_gene': 'SLC8B1', 'score': 0.29}]
chr12	GH12I113421	113421256	113423684	2.03	[{'connected_gene': 'SDSL', 'score': 569.81}, {'connected_gene': 'RBM19', 'score': 29.37}, {'connected_gene': 'PLBD2', 'score': 10.92}, {'connected_gene': 'SLC8B1', 'score': 10.38}, {'connected_gene': 'SDS', 'score': 0.77}]
chr12	GH12I113141	113141449	113143564	1.14	[{'connected_gene': 'SDSL', 'score': 20.77}, {'connected_gene': 'RASAL1', 'score': 13.64}, {'connected_gene': 'SLC8B1', 'score': 9.17}, {'connected_gene': 'CFAP73', 'score': 5.07}, {'connected_gene': 'OAS2', 'score': 3.74}, {'connected_gene': 'OAS3', 'score': 3.47}, {'connected_gene': 'OAS1', 'score': 3.11}, {'connected_gene': 'SDS', 'score': 1.42}]
chr12	GH12I113417	113417937	113418888	1.32	[{'connected_gene': 'SDSL', 'score': 31.31}, {'connected_gene': 'PLBD2', 'score': 10.94}, {'connected_gene': 'SLC8B1', 'score': 9.69}, {'connected_gene': 'SDS', 'score': 1.9}, {'connected_gene': 'OAS2', 'score': 1.56}, {'connected_gene': 'OAS3', 'score': 1.42}, {'connected_gene': 'LOC105369989', 'score': 0.22}]
chr12	GH12I113420	113420583	113420708	0.34	[{'connected_gene': 'SDSL', 'score': 574.74}, {'connected_gene': 'PLBD2', 'score': 10.92}, {'connected_gene': 'SLC8B1', 'score': 4.39}, {'connected_gene': 'SDS', 'score': 0.44}, {'connected_gene': 'LOC105369989', 'score': 0.22}]
chr12	GH12I113298	113297853	113300822	1.27	[{'connected_gene': 'GC12P113300', 'score': 550.77}, {'connected_gene': 'GC12M113299', 'score': 550.77}, {'connected_gene': 'RITA1', 'score': 11.04}, {'connected_gene': 'RASAL1', 'score': 10.73}, {'connected_gene': 'MIR6762', 'score': 0.44}, {'connected_gene': 'SLC8B1', 'score': 0.21}, {'connected_gene': 'TPCN1', 'score': 0.18}]
chr12	GH12I113039	113039973	113041603	1.12	[{'connected_gene': 'ENSG00000201208', 'score': 11.35}, {'connected_gene': 'RITA1', 'score': 11.34}, {'connected_gene': 'DDX54', 'score': 11.34}, {'connected_gene': 'OAS3', 'score': 5.52}, {'connected_gene': 'ENSG00000257452', 'score': 5.34}, {'connected_gene': 'SDSL', 'score': 4.95}, {'connected_gene': 'DTX1', 'score': 4.94}, {'connected_gene': 'SLC8B1', 'score': 2.98}, {'connected_gene': 'OAS2', 'score': 2.54}, {'connected_gene': 'OAS1', 'score': 1.3}, {'connected_gene': 'RPS15AP32', 'score': 0.39}]
chr12	GH12I113322	113322021	113323351	0.52	[{'connected_gene': 'GC12M113308', 'score': 0.77}, {'connected_gene': 'SLC8B1', 'score': 0.28}, {'connected_gene': 'PLBD2', 'score': 0.28}]
chr12	GH12I113312	113312636	113312785	0.8	[{'connected_gene': 'GC12M113308', 'score': 0.77}, {'connected_gene': 'GC12P113300', 'score': 0.39}, {'connected_gene': 'SLC8B1', 'score': 0.25}]
chr12	GH12I113270	113270881	113273195	1.51	[{'connected_gene': 'GC12M113256', 'score': 550.77}, {'connected_gene': 'SDSL', 'score': 19.16}, {'connected_gene': 'RASAL1', 'score': 13.23}, {'connected_gene': 'RITA1', 'score': 11.9}, {'connected_gene': 'SLC8B1', 'score': 10.88}, {'connected_gene': 'RBM19', 'score': 9.7}, {'connected_gene': 'OAS2', 'score': 3.59}, {'connected_gene': 'OAS3', 'score': 3.12}, {'connected_gene': 'OAS1', 'score': 2.39}, {'connected_gene': 'PLBD2', 'score': 1.53}, {'connected_gene': 'SDS', 'score': 1.28}, {'connected_gene': 'GC12P113288', 'score': 0.37}, {'connected_gene': 'TPCN1', 'score': 0.23}]

Transcript ID	Transcript exon region	Coding exon region
ENST00000552014	[[113736563, 113737779], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758135, 113758303], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770765], [113772247, 113772643], [113772797, 113772835]]	[[113737581, 113737779], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758135, 113758303], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770683]]
ENST00000202831	[[113736571, 113737779], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758135, 113758303], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770765], [113772797, 113772925]]	[[113737581, 113737779], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758135, 113758303], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770683]]
ENST00000546737	[[113737581, 113737779], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770752]]	[[113737581, 113737779], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770683]]
ENST00000553238	[[113745604, 113745717], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770765], [113772247, 113772638]]	None
ENST00000551230	[[113753146, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113772797, 113772912]]	None
ENST00000548477	[[113757778, 113758712], [113758860, 113758913], [113759000, 113759153], [113770553, 113770765], [113772247, 113772948]]	None
ENST00000549181	[[113758135, 113758303], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770765], [113772797, 113772946]]	[[113758135, 113758303], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770683]]
ENST00000549605	[[113758165, 113758303], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770553, 113770765], [113772797, 113772927]]	[[113759121, 113759153], [113770553, 113770683]]
ENST00000552613	[[113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770553, 113770765], [113772247, 113772418]]	[[113759121, 113759153], [113770553, 113770683]]
ENST00000548186	[[113758680, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770765], [113772247, 113772640], [113772797, 113772924]]	[[113758680, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770683]]
ENST00000549372	[[113759000, 113759153], [113770527, 113770765], [113797134, 113797298]]	[[113759000, 113759153], [113770527, 113770683]]
ENST00000552565	[[113736577, 113737779], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754429], [113754746, 113754806], [113756768, 113757130]]	None
ENST00000550672	[[113736581, 113737779], [113739944, 113740505], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758135, 113758303], [113758385, 113758491], [113758654, 113758683]]	[[113740457, 113740505], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758135, 113758303], [113758385, 113758491], [113758654, 113758683]]
ENST00000550047	[[113736585, 113737779], [113742125, 113742190], [113744299, 113744380], [113745495, 113746648]]	[[113737581, 113737779], [113742125, 113742190], [113744299, 113744336]]
ENST00000549069	[[113737136, 113737779], [113742125, 113742190], [113744299, 113744649]]	[[113737581, 113737779], [113742125, 113742190], [113744299, 113744468]]
ENST00000548518	[[113772476, 113772640], [113776030, 113776299], [113791479, 113791573], [113797134, 113797271]]	None
NM_001330466	[[113736570, 113737779], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770765], [113772247, 113772973]]	[[113737581, 113737779], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770683]]
NM_024959	[[113736570, 113737779], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758135, 113758303], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770765], [113772797, 113772973]]	[[113737581, 113737779], [113742125, 113742190], [113744299, 113744380], [113745495, 113745649], [113748038, 113748160], [113753139, 113753281], [113754330, 113754461], [113754746, 113754806], [113756768, 113756876], [113758135, 113758303], [113758385, 113758491], [113758654, 113758712], [113758860, 113758913], [113759000, 113759153], [113770527, 113770683]]