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
ENST00000549335	[[105413567, 105418257], [105420322, 105420522], [105424101, 105424207], [105425546, 105425712], [105428077, 105428176], [105431880, 105431980], [105433490, 105433584], [105434384, 105434472], [105440487, 105440593], [105440676, 105440747], [105443685, 105444485], [105445867, 105445995], [105446589, 105446709], [105451850, 105451998], [105454758, 105454850], [105455404, 105455530], [105456665, 105456800], [105459044, 105459134], [105460345, 105460383]]	None
ENST00000258494	[[105413567, 105418257], [105420322, 105420522], [105424101, 105424207], [105425546, 105425712], [105428077, 105428176], [105431880, 105431980], [105433490, 105433584], [105434384, 105434472], [105440487, 105440593], [105440676, 105440747], [105443685, 105443836], [105445867, 105445995], [105446589, 105446709], [105451850, 105451998], [105454758, 105454850], [105455404, 105455530], [105456665, 105456800], [105459044, 105459134], [105460345, 105460447], [105462496, 105462662], [105464347, 105464582], [105467638, 105467783], [105478166, 105478355]]	[[105418201, 105418257], [105420322, 105420522], [105424101, 105424207], [105425546, 105425712], [105428077, 105428176], [105431880, 105431980], [105433490, 105433584], [105434384, 105434472], [105440487, 105440593], [105440676, 105440747], [105443685, 105443836], [105445867, 105445995], [105446589, 105446709], [105451850, 105451998], [105454758, 105454850], [105455404, 105455530], [105456665, 105456800], [105459044, 105459134], [105460345, 105460447], [105462496, 105462662], [105464347, 105464582], [105467638, 105467783], [105478166, 105478214]]
ENST00000552270	[[105418201, 105418257], [105420322, 105420522], [105424101, 105424207], [105425546, 105425668], [105428077, 105428176], [105431880, 105431980], [105433490, 105433584], [105434384, 105434472], [105440487, 105440593], [105440676, 105440747], [105443685, 105443836], [105445867, 105445995], [105446589, 105446709], [105451850, 105451998], [105454758, 105454850], [105455404, 105455530], [105456665, 105456800], [105459044, 105459134], [105460345, 105460443], [105462496, 105462662], [105464347, 105464582], [105467638, 105467783], [105478166, 105478236]]	[[105460425, 105460443], [105462496, 105462662], [105464347, 105464582], [105467638, 105467783], [105478166, 105478214]]
ENST00000548418	[[105423847, 105424207], [105425546, 105425713]]	[[105424097, 105424207], [105425546, 105425713]]
ENST00000424857	[[105444469, 105444485], [105445867, 105445995], [105446589, 105446709], [105451850, 105451998], [105454758, 105454850], [105455404, 105455530], [105456665, 105456800], [105459044, 105459134], [105460345, 105460447], [105462496, 105462662], [105464347, 105464582], [105467638, 105467783], [105478166, 105478341]]	[[105444469, 105444485], [105445867, 105445995], [105446589, 105446709], [105451850, 105451998], [105454758, 105454850], [105455404, 105455530], [105456665, 105456800], [105459044, 105459134], [105460345, 105460447], [105462496, 105462662], [105464347, 105464582], [105467638, 105467783], [105478166, 105478214]]
ENST00000552427	[[105464297, 105464582], [105467638, 105467783], [105478166, 105478222]]	None
NM_001034173	[[105413561, 105418257], [105420322, 105420522], [105424101, 105424207], [105425546, 105425712], [105428077, 105428176], [105431880, 105431980], [105433490, 105433584], [105434384, 105434472], [105440487, 105440593], [105440676, 105440747], [105443685, 105443836], [105445867, 105445995], [105446589, 105446709], [105451850, 105451998], [105454758, 105454850], [105455404, 105455530], [105456665, 105456800], [105459044, 105459134], [105460345, 105460447], [105462496, 105462662], [105464347, 105464582], [105467638, 105467783], [105478166, 105478341]]	[[105418201, 105418257], [105420322, 105420522], [105424101, 105424207], [105425546, 105425712], [105428077, 105428176], [105431880, 105431980], [105433490, 105433584], [105434384, 105434472], [105440487, 105440593], [105440676, 105440747], [105443685, 105443836], [105445867, 105445995], [105446589, 105446709], [105451850, 105451998], [105454758, 105454850], [105455404, 105455530], [105456665, 105456800], [105459044, 105459134], [105460345, 105460447], [105462496, 105462662], [105464347, 105464582], [105467638, 105467783], [105478166, 105478214]]
NR_027752	[[105413561, 105418257], [105420322, 105420522], [105424101, 105424207], [105425546, 105425668], [105428077, 105428176], [105431880, 105431980], [105433490, 105433584], [105434384, 105434472], [105440487, 105440593], [105440676, 105440747], [105443685, 105443836], [105445867, 105445995], [105446589, 105446709], [105451850, 105451998], [105454758, 105454850], [105455404, 105455530], [105456665, 105456800], [105459044, 105459134], [105460345, 105460443], [105462496, 105462662], [105464347, 105464582], [105467638, 105467783], [105478166, 105478341]]	None

Promoter

Chrom	Start	End	Description
chr12	105415655	105415668	CAGE_peak_5_at_ALDH1L2_5end
chr12	105478218	105478244	CAGE_peak_1_at_ALDH1L2_5end
chr12	105478259	105478266	CAGE_peak_4_at_ALDH1L2_5end
chr12	105478305	105478329	CAGE_peak_3_at_ALDH1L2_5end
chr12	105478339	105478361	CAGE_peak_2_at_ALDH1L2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr12	GH12I105036	105036748	105038343	0.46	[{'connected_gene': 'SLC41A2', 'score': 18.06}, {'connected_gene': 'ALDH1L2', 'score': 11.75}, {'connected_gene': 'CHST11', 'score': 9.86}, {'connected_gene': 'C12orf45', 'score': 8.22}, {'connected_gene': 'PIR40149', 'score': 0.39}]
chr12	GH12I105031	105031001	105031600	0.56	[{'connected_gene': 'SLC41A2', 'score': 17.6}, {'connected_gene': 'PIR40149', 'score': 0.77}, {'connected_gene': 'C12orf45', 'score': 0.26}, {'connected_gene': 'ALDH1L2', 'score': 0.23}]
chr12	GH12I105090	105090443	105090732	0.43	[{'connected_gene': 'APPL2', 'score': 7.14}, {'connected_gene': 'ALDH1L2', 'score': 0.44}, {'connected_gene': 'WASHC4', 'score': 0.37}]
chr12	GH12I105091	105091407	105093186	1.02	[{'connected_gene': 'WASHC4', 'score': 32.36}, {'connected_gene': 'APPL2', 'score': 24.09}, {'connected_gene': 'C12orf75', 'score': 22.9}, {'connected_gene': 'ALDH1L2', 'score': 0.44}]
chr12	GH12I105100	105100597	105100930	0.62	[{'connected_gene': 'WASHC4', 'score': 0.44}, {'connected_gene': 'ALDH1L2', 'score': 0.37}]
chr12	GH12I105082	105082971	105085026	2.08	[{'connected_gene': 'ALDH1L2', 'score': 554.33}, {'connected_gene': 'WASHC4', 'score': 31.48}, {'connected_gene': 'C12orf75', 'score': 6.05}, {'connected_gene': 'PIR40149', 'score': 0.22}]
chr12	GH12I105020	105020186	105020329	0.31	[{'connected_gene': 'C12orf45', 'score': 11.24}, {'connected_gene': 'SLC41A2', 'score': 10.86}, {'connected_gene': 'PIR45033', 'score': 0.77}, {'connected_gene': 'PIR40149', 'score': 0.44}, {'connected_gene': 'ALDH1L2', 'score': 0.21}]
chr12	GH12I105021	105020604	105021527	0.31	[{'connected_gene': 'C12orf45', 'score': 19.61}, {'connected_gene': 'SLC41A2', 'score': 17.99}, {'connected_gene': 'PIR45033', 'score': 0.77}, {'connected_gene': 'PIR40149', 'score': 0.44}, {'connected_gene': 'ALDH1L2', 'score': 0.21}]
chr12	GH12I105024	105024151	105026641	0.6	[{'connected_gene': 'C12orf45', 'score': 19.8}, {'connected_gene': 'SLC41A2', 'score': 8.53}, {'connected_gene': 'PIR40149', 'score': 0.77}, {'connected_gene': 'PIR45033', 'score': 0.44}, {'connected_gene': 'ALDH1L2', 'score': 0.22}]
chr12	GH12I104985	104985619	104987903	1.98	[{'connected_gene': 'C12orf45', 'score': 561.39}, {'connected_gene': 'LOC105369952', 'score': 550.77}, {'connected_gene': 'SLC41A2', 'score': 15.43}, {'connected_gene': 'NFYB', 'score': 11.73}, {'connected_gene': 'ALDH1L2', 'score': 10.58}, {'connected_gene': 'PIR60982', 'score': 0.77}, {'connected_gene': 'GC12M104965', 'score': 0.44}]
chr12	GH12I105053	105053163	105053332	0.77	[{'connected_gene': 'PIR40149', 'score': 0.31}, {'connected_gene': 'ALDH1L2', 'score': 0.29}, {'connected_gene': 'C12orf45', 'score': 0.2}]