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
ENST00000401850	[[43088126, 43090003], [43090548, 43090992]]	[[43088895, 43089957]]
ENST00000249005	[[43088126, 43090003], [43091496, 43091639]]	[[43088895, 43089957]]
ENST00000381278	[[43088127, 43090003], [43091580, 43091639]]	[[43088895, 43089957]]
ENST00000483026	[[43089976, 43090003], [43091151, 43091639]]	None
ENST00000465765	[[43091176, 43091637], [43117170, 43117304]]	None
NM_017436	[[43088120, 43090003], [43091496, 43091637], [43116802, 43116916]]	[[43088895, 43089957]]
NM_001318038	[[43088120, 43090003], [43091496, 43091637], [43117170, 43117307]]	[[43088895, 43089957]]

Promoter

Chrom	Start	End	Description
chr22	43116819	43116859	CAGE_peak_2_at_A4GALT_5end
chr22	43116867	43116885	CAGE_peak_1_at_A4GALT_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr22	GH22I042696	42696223	42700282	1.23	[{'connected_gene': 'POLDIP3', 'score': 20.25}, {'connected_gene': 'RPL5P34', 'score': 12.88}, {'connected_gene': 'NAGA', 'score': 12.55}, {'connected_gene': 'A4GALT', 'score': 10.55}, {'connected_gene': 'RN7SKP80', 'score': 9.94}, {'connected_gene': 'CYB5R3', 'score': 8.48}, {'connected_gene': 'SERHL2', 'score': 6.27}, {'connected_gene': 'GC22M042670', 'score': 0.31}]
chr22	GH22I042742	42742800	42745832	0.96	[{'connected_gene': 'A4GALT', 'score': 48.71}, {'connected_gene': 'POLDIP3', 'score': 14.93}, {'connected_gene': 'RN7SKP80', 'score': 13.17}, {'connected_gene': 'NAGA', 'score': 11.61}, {'connected_gene': 'CYB5R3', 'score': 11.28}, {'connected_gene': 'ATP5MGL', 'score': 11.27}, {'connected_gene': 'RPL5P34', 'score': 11.27}, {'connected_gene': 'ENSG00000200448', 'score': 0.37}, {'connected_gene': 'GC22M042763', 'score': 0.37}]
chr22	GH22I042766	42766937	42767148	0.33	[{'connected_gene': 'A4GALT', 'score': 12.4}, {'connected_gene': 'MPPED1', 'score': 4.36}, {'connected_gene': 'NFAM1', 'score': 4.25}, {'connected_gene': 'ARFGAP3', 'score': 4.11}, {'connected_gene': 'POLDIP3', 'score': 1.53}, {'connected_gene': 'ENSG00000200448', 'score': 0.77}, {'connected_gene': 'GC22M042763', 'score': 0.77}, {'connected_gene': 'RPL5P34', 'score': 0.39}]
chr22	GH22I042847	42846099	42846584	0.2	[{'connected_gene': 'A4GALT', 'score': 5.03}, {'connected_gene': 'LOC692246', 'score': 0.44}, {'connected_gene': 'ARFGAP3', 'score': 0.39}, {'connected_gene': 'LOC100422416', 'score': 0.23}, {'connected_gene': 'PACSIN2', 'score': 0.1}]
chr22	GH22I042753	42753884	42756423	1.16	[{'connected_gene': 'A4GALT', 'score': 28.06}, {'connected_gene': 'NAGA', 'score': 4.07}, {'connected_gene': 'GC22M042763', 'score': 0.44}, {'connected_gene': 'ENSG00000200448', 'score': 0.44}]
chr22	GH22I042772	42772255	42772263	0.46	[{'connected_gene': 'A4GALT', 'score': 12.38}, {'connected_gene': 'GC22M042763', 'score': 0.44}, {'connected_gene': 'RPL5P34', 'score': 0.44}, {'connected_gene': 'ENSG00000200448', 'score': 0.44}]
chr22	GH22I042769	42769032	42771215	1.35	[{'connected_gene': 'A4GALT', 'score': 17.48}, {'connected_gene': 'ARFGAP3', 'score': 6.66}, {'connected_gene': 'TCF20', 'score': 4.41}, {'connected_gene': 'RRP7BP', 'score': 4.26}, {'connected_gene': 'NFAM1', 'score': 2.22}, {'connected_gene': 'GC22M042763', 'score': 0.44}, {'connected_gene': 'RPL5P34', 'score': 0.44}, {'connected_gene': 'ENSG00000200448', 'score': 0.44}]
chr22	GH22I042773	42773015	42774022	0.38	[{'connected_gene': 'A4GALT', 'score': 12.38}, {'connected_gene': 'ARFGAP3', 'score': 4.7}, {'connected_gene': 'RPL5P34', 'score': 0.77}, {'connected_gene': 'GC22M042763', 'score': 0.39}, {'connected_gene': 'ENSG00000200448', 'score': 0.39}]
chr22	GH22I042718	42718972	42721201	1.7	[{'connected_gene': 'A4GALT', 'score': 588.2}, {'connected_gene': 'SERHL2', 'score': 4.31}, {'connected_gene': 'CYB5R3', 'score': 1.85}, {'connected_gene': 'GC22M042670', 'score': 0.25}]
chr22	GH22I042681	42681607	42685036	0.97	[{'connected_gene': 'A4GALT', 'score': 24.25}, {'connected_gene': 'CYB5R3', 'score': 20.36}, {'connected_gene': 'POLDIP3', 'score': 17.0}, {'connected_gene': 'SERHL2', 'score': 9.31}, {'connected_gene': 'GC22M042670', 'score': 0.39}]
chr22	GH22I042675	42675801	42677400	1.27	[{'connected_gene': 'A4GALT', 'score': 23.93}, {'connected_gene': 'CYB5R3', 'score': 12.32}, {'connected_gene': 'ATP5MGL', 'score': 11.99}, {'connected_gene': 'ARFGAP3', 'score': 8.64}, {'connected_gene': 'NFAM1', 'score': 1.93}, {'connected_gene': 'GC22M042670', 'score': 0.44}]
chr22	GH22I042747	42747417	42749849	0.95	[{'connected_gene': 'A4GALT', 'score': 32.42}, {'connected_gene': 'CYB5R3', 'score': 11.27}, {'connected_gene': 'ATP5MGL', 'score': 11.26}, {'connected_gene': 'GC22M042763', 'score': 0.39}, {'connected_gene': 'ENSG00000200448', 'score': 0.39}]
chr22	GH22I042673	42673916	42674401	0.94	[{'connected_gene': 'A4GALT', 'score': 12.83}, {'connected_gene': 'CYB5R3', 'score': 12.35}, {'connected_gene': 'ATP5MGL', 'score': 12.0}, {'connected_gene': 'GC22M042670', 'score': 0.77}]
chr22	GH22I042828	42828575	42828724	0.2	[{'connected_gene': 'A4GALT', 'score': 11.37}, {'connected_gene': 'CYB5R3', 'score': 11.08}, {'connected_gene': 'ARFGAP3', 'score': 10.56}, {'connected_gene': 'LOC692246', 'score': 0.31}, {'connected_gene': 'LOC100422416', 'score': 0.29}]
chr22	GH22I042679	42679914	42681422	1.36	[{'connected_gene': 'A4GALT', 'score': 24.1}, {'connected_gene': 'CYB5R3', 'score': 19.09}, {'connected_gene': 'ARFGAP3', 'score': 17.93}, {'connected_gene': 'SERHL2', 'score': 5.32}, {'connected_gene': 'NFAM1', 'score': 3.11}, {'connected_gene': 'GC22M042670', 'score': 0.39}]
chr22	GH22I042680	42679480	42679670	0.23	[{'connected_gene': 'A4GALT', 'score': 12.76}, {'connected_gene': 'CYB5R3', 'score': 12.11}, {'connected_gene': 'ARFGAP3', 'score': 6.08}, {'connected_gene': 'NFAM1', 'score': 1.74}, {'connected_gene': 'GC22M042670', 'score': 0.44}]
chr22	GH22I042685	42685565	42690470	1.55	[{'connected_gene': 'A4GALT', 'score': 14.11}, {'connected_gene': 'CYB5R3', 'score': 11.97}, {'connected_gene': 'SERHL2', 'score': 7.2}, {'connected_gene': 'TSPO', 'score': 6.13}, {'connected_gene': 'MCAT', 'score': 1.59}, {'connected_gene': 'GC22M042670', 'score': 0.37}]
chr22	GH22I042691	42691876	42692838	0.8	[{'connected_gene': 'A4GALT', 'score': 8.94}, {'connected_gene': 'CYB5R3', 'score': 6.99}, {'connected_gene': 'GC22M042670', 'score': 0.34}]
chr22	GH22I042693	42693971	42694789	0.31	[{'connected_gene': 'A4GALT', 'score': 10.07}, {'connected_gene': 'CYB5R3', 'score': 6.31}, {'connected_gene': 'GC22M042670', 'score': 0.34}]
chr22	GH22I042695	42695257	42695937	1.01	[{'connected_gene': 'A4GALT', 'score': 560.24}, {'connected_gene': 'CYB5R3', 'score': 8.41}, {'connected_gene': 'GC22M042670', 'score': 0.31}]
chr22	GH22I042734	42734515	42734704	0.76	[{'connected_gene': 'A4GALT', 'score': 0.39}, {'connected_gene': 'GC22M042763', 'score': 0.31}, {'connected_gene': 'ENSG00000200448', 'score': 0.31}]
chr22	GH22I042740	42740452	42740797	0.54	[{'connected_gene': 'A4GALT', 'score': 9.25}, {'connected_gene': 'GC22M042763', 'score': 0.34}, {'connected_gene': 'ENSG00000200448', 'score': 0.34}]
chr22	GH22I042751	42751599	42753684	1.19	[{'connected_gene': 'A4GALT', 'score': 11.34}, {'connected_gene': 'GC22M042763', 'score': 0.39}, {'connected_gene': 'ENSG00000200448', 'score': 0.39}]
chr22	GH22I042759	42758824	42759455	0.63	[{'connected_gene': 'A4GALT', 'score': 5.37}, {'connected_gene': 'GC22M042763', 'score': 0.77}, {'connected_gene': 'ENSG00000200448', 'score': 0.77}]
chr22	GH22I042726	42726781	42728284	1.04	[{'connected_gene': 'A4GALT', 'score': 21.88}, {'connected_gene': 'GC22M042763', 'score': 0.28}, {'connected_gene': 'ENSG00000200448', 'score': 0.28}]
chr22	GH22I042716	42716112	42717800	1.22	[{'connected_gene': 'A4GALT', 'score': 37.5}, {'connected_gene': 'GC22M042670', 'score': 0.25}]
chr22	GH22I042703	42703436	42704257	0.2	[{'connected_gene': 'A4GALT', 'score': 0.37}, {'connected_gene': 'GC22M042670', 'score': 0.29}]
chr22	GH22I042714	42714617	42715226	0.46	[{'connected_gene': 'A4GALT', 'score': 14.71}, {'connected_gene': 'GC22M042670', 'score': 0.26}]
chr22	GH22I042719	42718695	42718844	0.51	[{'connected_gene': 'A4GALT', 'score': 8.79}, {'connected_gene': 'GC22M042670', 'score': 0.25}]
chr22	GH22I042711	42711287	42712925	0.76	[{'connected_gene': 'A4GALT', 'score': 36.09}, {'connected_gene': 'GC22M042670', 'score': 0.26}]
chr22	GH22I042664	42664894	42665643	0.65	[{'connected_gene': 'ATP5MGL', 'score': 12.48}, {'connected_gene': 'A4GALT', 'score': 12.37}, {'connected_gene': 'POLDIP3', 'score': 11.83}, {'connected_gene': 'ARFGAP3', 'score': 10.41}, {'connected_gene': 'CYB5R3', 'score': 8.89}, {'connected_gene': 'SERHL2', 'score': 6.81}, {'connected_gene': 'GC22M042670', 'score': 0.44}, {'connected_gene': 'GC22P042648', 'score': 0.37}]
chr22	GH22I042758	42758206	42758347	0.25	[{'connected_gene': 'ARFGAP3', 'score': 17.24}, {'connected_gene': 'A4GALT', 'score': 15.53}, {'connected_gene': 'NFAM1', 'score': 2.65}, {'connected_gene': 'GC22M042763', 'score': 0.77}, {'connected_gene': 'ENSG00000200448', 'score': 0.77}]
chr22	GH22I042999	42999602	43005902	1.27	[{'connected_gene': 'ARFGAP3', 'score': 27.19}, {'connected_gene': 'LOC100506679', 'score': 13.38}, {'connected_gene': 'RRP7BP', 'score': 12.3}, {'connected_gene': 'ENSG00000261251', 'score': 11.4}, {'connected_gene': 'MCAT', 'score': 10.51}, {'connected_gene': 'A4GALT', 'score': 10.11}, {'connected_gene': 'PACSIN2', 'score': 9.88}, {'connected_gene': 'PIR35633', 'score': 0.37}]
chr22	GH22I043066	43066853	43068204	1.07	[{'connected_gene': 'TTLL1', 'score': 13.04}, {'connected_gene': 'RPS25P10', 'score': 13.04}, {'connected_gene': 'BIK', 'score': 11.5}, {'connected_gene': 'A4GALT', 'score': 11.05}, {'connected_gene': 'MCAT', 'score': 10.93}, {'connected_gene': 'PIR49217', 'score': 0.37}, {'connected_gene': 'GC22P043084', 'score': 0.37}, {'connected_gene': 'GC22P043086', 'score': 0.37}, {'connected_gene': 'GC22P043085', 'score': 0.37}, {'connected_gene': 'LOC100506679', 'score': 0.31}]
chr22	GH22I042617	42617566	42618155	0.66	[{'connected_gene': 'SERHL2', 'score': 18.56}, {'connected_gene': 'A4GALT', 'score': 7.47}, {'connected_gene': 'RNU12', 'score': 0.77}, {'connected_gene': 'ENSG00000270022', 'score': 0.77}, {'connected_gene': 'ATP5MGL', 'score': 0.34}, {'connected_gene': 'CYB5R3', 'score': 0.29}]
chr22	GH22I042641	42641074	42650330	2.25	[{'connected_gene': 'CYB5R3', 'score': 560.95}, {'connected_gene': 'RRP7BP', 'score': 18.14}, {'connected_gene': 'RPL5P34', 'score': 12.82}, {'connected_gene': 'SERHL2', 'score': 11.26}, {'connected_gene': 'POLDIP3', 'score': 10.06}, {'connected_gene': 'RN7SKP80', 'score': 10.0}, {'connected_gene': 'A4GALT', 'score': 9.85}, {'connected_gene': 'GC22P042648', 'score': 0.77}, {'connected_gene': 'ATP5MGL', 'score': 0.44}]
chr22	GH22I042635	42635045	42637065	1	[{'connected_gene': 'CYB5R3', 'score': 11.32}, {'connected_gene': 'A4GALT', 'score': 10.03}, {'connected_gene': 'SERHL2', 'score': 7.29}, {'connected_gene': 'ATP5MGL', 'score': 0.77}, {'connected_gene': 'RNU12', 'score': 0.34}, {'connected_gene': 'ENSG00000270022', 'score': 0.34}]
chr22	GH22I042989	42989715	42998799	1.59	[{'connected_gene': 'PACSIN2', 'score': 16.7}, {'connected_gene': 'ARFGAP3', 'score': 14.98}, {'connected_gene': 'A4GALT', 'score': 5.11}, {'connected_gene': 'NDUFA6', 'score': 4.12}, {'connected_gene': 'PIR35633', 'score': 0.44}]
chr22	GH22I042671	42671025	42671948	1.24	[{'connected_gene': 'GC22M042670', 'score': 550.77}, {'connected_gene': 'A4GALT', 'score': 22.84}, {'connected_gene': 'CYB5R3', 'score': 12.35}, {'connected_gene': 'ATP5MGL', 'score': 12.0}, {'connected_gene': 'SERHL2', 'score': 5.94}, {'connected_gene': 'ARFGAP3', 'score': 3.13}, {'connected_gene': 'NFAM1', 'score': 1.75}, {'connected_gene': 'GC22P042648', 'score': 0.34}]