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
ENST00000526421	[[102188214, 102188302], [102190607, 102190737], [102192567, 102192973]]	None
ENST00000263464	[[102188225, 102188302], [102192567, 102196093], [102196196, 102196296], [102198782, 102198861], [102199627, 102199676], [102201729, 102201972], [102206696, 102206951], [102207490, 102207532], [102207639, 102208465]]	[[102195240, 102196093], [102196196, 102196296], [102198782, 102198861], [102199627, 102199676], [102201729, 102201972], [102206696, 102206951], [102207490, 102207532], [102207639, 102207833]]
ENST00000528940	[[102188232, 102188302], [102190607, 102190737], [102191016, 102191131], [102192567, 102192859]]	None
ENST00000532808	[[102188293, 102188302], [102192567, 102192631], [102195191, 102196093], [102196196, 102196296], [102198782, 102198861], [102199627, 102199676], [102201729, 102201972], [102206696, 102206951], [102207490, 102207532], [102207639, 102210134]]	[[102195240, 102196093], [102196196, 102196296], [102198782, 102198861], [102199627, 102199676], [102201729, 102201972], [102206696, 102206951], [102207490, 102207532], [102207639, 102207833]]
ENST00000527309	[[102195951, 102196093], [102196196, 102196296], [102197459, 102197582], [102198782, 102198861], [102199627, 102199676], [102201729, 102201785]]	[[102195951, 102196093], [102196196, 102196296], [102197459, 102197582], [102198782, 102198861], [102199627, 102199676], [102201729, 102201785]]
ENST00000527336	[[102207251, 102207532], [102207639, 102208022]]	None
NM_182962	[[102188180, 102188302], [102192567, 102192631], [102195191, 102196093], [102196196, 102196296], [102198782, 102198861], [102199627, 102199676], [102201729, 102201972], [102206696, 102206951], [102207490, 102207532], [102207639, 102210134]]	[[102195240, 102196093], [102196196, 102196296], [102198782, 102198861], [102199627, 102199676], [102201729, 102201972], [102206696, 102206951], [102207490, 102207532], [102207639, 102207833]]
NM_001165	[[102188180, 102188302], [102192567, 102196093], [102196196, 102196296], [102198782, 102198861], [102199627, 102199676], [102201729, 102201972], [102206696, 102206951], [102207490, 102207532], [102207639, 102210134]]	[[102195240, 102196093], [102196196, 102196296], [102198782, 102198861], [102199627, 102199676], [102201729, 102201972], [102206696, 102206951], [102207490, 102207532], [102207639, 102207833]]

Promoter

Chrom	Start	End	Description
chr11	102188181	102188222	CAGE_peak_1_at_BIRC3_5end
chr11	102188224	102188235	CAGE_peak_3_at_BIRC3_5end
chr11	102188241	102188255	CAGE_peak_2_at_BIRC3_5end
chr11	102188272	102188281	CAGE_peak_4_at_BIRC3_5end
chr11	102195211	102195230	CAGE_peak_5_at_BIRC3_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr11	GH11I102727	102727401	102728851	0.89	[{'connected_gene': 'MMP8', 'score': 550.77}, {'connected_gene': 'MMP27', 'score': 19.15}, {'connected_gene': 'MMP10', 'score': 11.07}, {'connected_gene': 'MMP1', 'score': 10.46}, {'connected_gene': 'MMP3', 'score': 9.91}, {'connected_gene': 'RNU7-159P', 'score': 9.49}, {'connected_gene': 'BIRC2', 'score': 8.01}, {'connected_gene': 'TMEM123', 'score': 1.75}, {'connected_gene': 'BIRC3', 'score': 1.47}, {'connected_gene': 'WTAPP1', 'score': 0.37}]
chr11	GH11I102558	102558892	102562276	1.39	[{'connected_gene': 'MMP7', 'score': 19.3}, {'connected_gene': 'MMP20', 'score': 13.11}, {'connected_gene': 'ENSG00000256916', 'score': 11.17}, {'connected_gene': 'BIRC2', 'score': 10.59}, {'connected_gene': 'MMP10', 'score': 4.61}, {'connected_gene': 'ANGPTL5', 'score': 4.11}, {'connected_gene': 'BIRC3', 'score': 1.85}]
chr11	GH11I102311	102311053	102324271	2.74	[{'connected_gene': 'BIRC3', 'score': 573.47}, {'connected_gene': 'BIRC2', 'score': 32.93}, {'connected_gene': 'ENSG00000256916', 'score': 10.4}, {'connected_gene': 'MMP20', 'score': 10.4}, {'connected_gene': 'MMP7', 'score': 9.82}, {'connected_gene': 'TMEM123', 'score': 2.02}, {'connected_gene': 'RNU6-952P', 'score': 0.77}]
chr11	GH11I102300	102300546	102301274	0.31	[{'connected_gene': 'BIRC3', 'score': 19.99}, {'connected_gene': 'BIRC2', 'score': 11.38}, {'connected_gene': 'ENSG00000270868', 'score': 0.44}, {'connected_gene': 'RPS6P17', 'score': 0.44}]
chr11	GH11I102301	102301480	102302962	0.31	[{'connected_gene': 'BIRC3', 'score': 20.03}, {'connected_gene': 'BIRC2', 'score': 11.1}, {'connected_gene': 'ENSG00000270868', 'score': 0.77}, {'connected_gene': 'RPS6P17', 'score': 0.44}]
chr11	GH11I102329	102329744	102335176	0.49	[{'connected_gene': 'BIRC3', 'score': 14.44}, {'connected_gene': 'BIRC2', 'score': 7.78}, {'connected_gene': 'TMEM123', 'score': 6.82}]
chr11	GH11I102325	102325931	102327212	0.2	[{'connected_gene': 'BIRC3', 'score': 0.44}, {'connected_gene': 'BIRC2', 'score': 0.34}]
chr11	GH11I102324	102324902	102325633	0.69	[{'connected_gene': 'BIRC3', 'score': 0.44}, {'connected_gene': 'BIRC2', 'score': 0.34}]
chr11	GH11I102335	102335720	102340236	0.54	[{'connected_gene': 'BIRC3', 'score': 14.83}, {'connected_gene': 'BIRC2', 'score': 5.11}]
chr11	GH11I102327	102327414	102329024	0.43	[{'connected_gene': 'BIRC3', 'score': 11.59}, {'connected_gene': 'BIRC2', 'score': 0.37}]
chr11	GH11I102287	102287108	102290936	1.19	[{'connected_gene': 'BIRC3', 'score': 20.43}, {'connected_gene': 'RPS6P17', 'score': 0.44}, {'connected_gene': 'LOC105369460', 'score': 0.34}]
chr11	GH11I102341	102341550	102342201	1.4	[{'connected_gene': 'BIRC3', 'score': 12.07}, {'connected_gene': 'RNU6-952P', 'score': 12.04}, {'connected_gene': 'TMEM123', 'score': 5.09}, {'connected_gene': 'BIRC2', 'score': 0.44}]
chr11	GH11I102592	102592260	102592308	0.22	[{'connected_gene': 'BIRC2', 'score': 13.72}, {'connected_gene': 'MMP20', 'score': 12.11}, {'connected_gene': 'MMP7', 'score': 11.13}, {'connected_gene': 'MMP8', 'score': 9.14}, {'connected_gene': 'BIRC3', 'score': 1.62}, {'connected_gene': 'ENSG00000256916', 'score': 0.39}]
chr11	GH11I102278	102278969	102281501	1.3	[{'connected_gene': 'BIRC2', 'score': 11.21}, {'connected_gene': 'ENSG00000254422', 'score': 10.83}, {'connected_gene': 'ENSG00000256916', 'score': 10.21}, {'connected_gene': 'MMP20', 'score': 10.21}, {'connected_gene': 'MMP7', 'score': 10.13}, {'connected_gene': 'BIRC3', 'score': 8.98}, {'connected_gene': 'LOC105369460', 'score': 0.39}, {'connected_gene': 'RPS6P17', 'score': 0.39}]
chr11	GH11I102589	102589075	102589362	1.01	[{'connected_gene': 'BIRC2', 'score': 15.01}, {'connected_gene': 'MMP7', 'score': 11.14}, {'connected_gene': 'MMP20', 'score': 10.25}, {'connected_gene': 'MMP8', 'score': 9.14}, {'connected_gene': 'BIRC3', 'score': 6.86}, {'connected_gene': 'TMEM123', 'score': 1.36}, {'connected_gene': 'ENSG00000256916', 'score': 0.37}]
chr11	GH11I102413	102413264	102413595	0.44	[{'connected_gene': 'BIRC2', 'score': 2.94}, {'connected_gene': 'TMEM123', 'score': 1.91}, {'connected_gene': 'MMP20', 'score': 1.62}, {'connected_gene': 'BIRC3', 'score': 1.24}, {'connected_gene': 'GC11P102396', 'score': 0.37}, {'connected_gene': 'LOC101928424', 'score': 0.28}]
chr11	GH11I102343	102343961	102350423	2.58	[{'connected_gene': 'BIRC2', 'score': 564.74}, {'connected_gene': 'TMEM123', 'score': 9.1}, {'connected_gene': 'BIRC3', 'score': 2.81}, {'connected_gene': 'GC11P102396', 'score': 0.25}]
chr11	GH11I102293	102293635	102296182	1.14	[{'connected_gene': 'RPS6P17', 'score': 550.77}, {'connected_gene': 'BIRC3', 'score': 20.01}, {'connected_gene': 'BIRC2', 'score': 11.37}, {'connected_gene': 'LOC105369460', 'score': 0.31}]
chr11	GH11I102360	102360749	102362586	0.87	[{'connected_gene': 'TMEM123', 'score': 19.64}, {'connected_gene': 'LOC102723838', 'score': 10.99}, {'connected_gene': 'LOC101928424', 'score': 10.89}, {'connected_gene': 'MMP7', 'score': 10.25}, {'connected_gene': 'ENSG00000256916', 'score': 10.12}, {'connected_gene': 'MMP20', 'score': 10.12}, {'connected_gene': 'BIRC2', 'score': 4.41}, {'connected_gene': 'BIRC3', 'score': 2.44}, {'connected_gene': 'GC11P102396', 'score': 0.29}]
chr11	GH11I102445	102445953	102457159	2.78	[{'connected_gene': 'TMEM123', 'score': 561.31}, {'connected_gene': 'LOC101928424', 'score': 550.77}, {'connected_gene': 'BIRC2', 'score': 31.68}, {'connected_gene': 'MMP7', 'score': 10.04}, {'connected_gene': 'ENSG00000256916', 'score': 9.81}, {'connected_gene': 'MMP20', 'score': 9.8}, {'connected_gene': 'BIRC3', 'score': 2.07}, {'connected_gene': 'GC11P102396', 'score': 0.22}]
chr11	GH11I102426	102426669	102427082	0.59	[{'connected_gene': 'TMEM123', 'score': 20.96}, {'connected_gene': 'LOC101928424', 'score': 13.03}, {'connected_gene': 'BIRC2', 'score': 3.89}, {'connected_gene': 'BIRC3', 'score': 2.75}, {'connected_gene': 'MMP20', 'score': 2.27}, {'connected_gene': 'GC11P102396', 'score': 0.29}]
chr11	GH11I102267	102267098	102270974	1.59	[{'connected_gene': 'LOC105369460', 'score': 550.77}, {'connected_gene': 'DYNC2H1', 'score': 12.2}, {'connected_gene': 'ENSG00000254422', 'score': 10.39}, {'connected_gene': 'BIRC2', 'score': 6.75}, {'connected_gene': 'BIRC3', 'score': 5.88}, {'connected_gene': 'RPS6P17', 'score': 0.31}]
chr11	GH11I102580	102580197	102580523	0.92	[{'connected_gene': 'ENSG00000256916', 'score': 12.3}, {'connected_gene': 'MMP20', 'score': 12.25}, {'connected_gene': 'MMP7', 'score': 10.51}, {'connected_gene': 'BIRC2', 'score': 8.34}, {'connected_gene': 'BIRC3', 'score': 2.06}, {'connected_gene': 'TMEM123', 'score': 1.65}]
chr11	GH11I102303	102303576	102308264	1.47	[{'connected_gene': 'ENSG00000270868', 'score': 550.77}, {'connected_gene': 'BIRC3', 'score': 19.52}, {'connected_gene': 'BIRC2', 'score': 12.41}, {'connected_gene': 'MMP7', 'score': 10.34}, {'connected_gene': 'RPS6P17', 'score': 0.39}]
chr11	GH11I102396	102396865	102397975	0.49	[{'connected_gene': 'GC11P102396', 'score': 550.77}, {'connected_gene': 'TMEM123', 'score': 8.78}, {'connected_gene': 'BIRC3', 'score': 4.88}, {'connected_gene': 'LOC101928424', 'score': 0.22}]