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
ENST00000551118	[[70173820, 70174864], [70176463, 70176612], [70178790, 70178970], [70179559, 70179649], [70191618, 70191728], [70191962, 70192072], [70192150, 70192267], [70196767, 70196998], [70202673, 70202868], [70204677, 70204840], [70206052, 70206170], [70209784, 70210004], [70218860, 70218992], [70225423, 70225569], [70227879, 70228063], [70229737, 70229920], [70231547, 70231643]]	[[70176463, 70176612], [70178790, 70178970], [70179559, 70179649], [70191618, 70191728], [70191962, 70192072], [70192150, 70192267], [70196767, 70196998], [70202673, 70202868], [70204677, 70204840], [70206052, 70206170], [70209784, 70210004], [70218860, 70218992], [70225423, 70225569], [70227879, 70228063], [70229737, 70229920], [70231547, 70231621]]
ENST00000399180	[[70173820, 70174864], [70176465, 70176612], [70178790, 70178970], [70179559, 70179649], [70181981, 70182186], [70182271, 70182361], [70182453, 70182647], [70190192, 70190417], [70191618, 70191728], [70191962, 70192072], [70192150, 70192267], [70196767, 70196998], [70202673, 70202868], [70204677, 70204840], [70206052, 70206170], [70209784, 70210004], [70218860, 70218992], [70225423, 70225569], [70227879, 70228063], [70229737, 70229920], [70231547, 70231879]]	[[70174795, 70174864], [70176465, 70176612], [70178790, 70178970], [70179559, 70179649], [70181981, 70182186], [70182271, 70182361], [70182453, 70182647], [70190192, 70190417], [70191618, 70191728], [70191962, 70192072], [70192150, 70192267], [70196767, 70196998], [70202673, 70202868], [70204677, 70204840], [70206052, 70206170], [70209784, 70210004], [70218860, 70218992], [70225423, 70225569], [70227879, 70228063], [70229737, 70229920], [70231547, 70231879]]
ENST00000399179	[[70173820, 70174864], [70176465, 70176612], [70178790, 70178970], [70179559, 70179649], [70191618, 70191728], [70191962, 70192072], [70192150, 70192267], [70196767, 70196998], [70202673, 70202868], [70204677, 70204840], [70206052, 70206170], [70209784, 70210004], [70218860, 70218992], [70225423, 70225569], [70227879, 70228063], [70229737, 70229920], [70231547, 70231879]]	[[70174795, 70174864], [70176465, 70176612], [70178790, 70178970], [70179559, 70179649], [70191618, 70191728], [70191962, 70192072], [70192150, 70192267], [70196767, 70196998], [70202673, 70202868], [70204677, 70204840], [70206052, 70206170], [70209784, 70210004], [70218860, 70218992], [70225423, 70225569], [70227879, 70228063], [70229737, 70229920], [70231547, 70231621]]
ENST00000358410	[[70173821, 70174864], [70176465, 70176612], [70178790, 70178970], [70179559, 70179649], [70181981, 70182186], [70182271, 70182361], [70182453, 70182647], [70190192, 70190412], [70191613, 70191728], [70191962, 70192072], [70192150, 70192267], [70196767, 70196998], [70202673, 70202868], [70204677, 70204840], [70206052, 70206170], [70209784, 70210004], [70218860, 70218992], [70225423, 70225569], [70227879, 70228063], [70229737, 70229920], [70231547, 70231672]]	[[70174795, 70174864], [70176465, 70176612], [70178790, 70178970], [70179559, 70179649], [70181981, 70182186], [70182271, 70182361], [70182453, 70182647], [70190192, 70190412], [70191613, 70191728], [70191962, 70192072], [70192150, 70192267], [70196767, 70196998], [70202673, 70202868], [70204677, 70204840], [70206052, 70206170], [70209784, 70210004], [70218860, 70218992], [70225423, 70225569], [70227879, 70228063], [70229737, 70229920], [70231547, 70231621]]
ENST00000440722	[[70176371, 70176612], [70178790, 70178970], [70179559, 70179649], [70181981, 70182186], [70182271, 70182361], [70182453, 70182647], [70190192, 70190364]]	[[70176417, 70176612], [70178790, 70178970], [70179559, 70179649], [70181981, 70182186], [70182271, 70182361], [70182453, 70182647], [70190192, 70190364]]
ENST00000550545	[[70176442, 70176612], [70178790, 70179180]]	None
ENST00000478029	[[70196610, 70196998], [70202673, 70202763]]	None
ENST00000550357	[[70227923, 70228063], [70229737, 70229920], [70230245, 70230369], [70231547, 70231643]]	[[70230323, 70230369], [70231547, 70231621]]
NM_001080449	[[70173820, 70174864], [70176465, 70176612], [70178790, 70178970], [70179559, 70179649], [70181981, 70182186], [70182271, 70182361], [70182453, 70182647], [70190192, 70190417], [70191618, 70191728], [70191962, 70192072], [70192150, 70192267], [70196767, 70196998], [70202673, 70202868], [70204677, 70204840], [70206052, 70206170], [70209784, 70210004], [70218860, 70218992], [70225423, 70225569], [70227879, 70228063], [70229737, 70229920], [70231547, 70231730]]	[[70174795, 70174864], [70176465, 70176612], [70178790, 70178970], [70179559, 70179649], [70181981, 70182186], [70182271, 70182361], [70182453, 70182647], [70190192, 70190417], [70191618, 70191728], [70191962, 70192072], [70192150, 70192267], [70196767, 70196998], [70202673, 70202868], [70204677, 70204840], [70206052, 70206170], [70209784, 70210004], [70218860, 70218992], [70225423, 70225569], [70227879, 70228063], [70229737, 70229920], [70231547, 70231621]]
NR_102264	[[70173820, 70174864], [70176465, 70176612], [70178790, 70178970], [70179559, 70179649], [70181981, 70182186], [70182271, 70182361], [70182453, 70182647], [70190192, 70190297], [70191613, 70191728], [70191962, 70192072], [70192150, 70192267], [70196767, 70196998], [70202673, 70202868], [70204677, 70204840], [70206052, 70206170], [70209784, 70210004], [70218860, 70218992], [70225423, 70225569], [70227879, 70228063], [70229737, 70229920], [70231547, 70231642], [70231810, 70231878]]	None

Promoter

Chrom	Start	End	Description
chr10	70231639	70231735	CAGE_peak_1_at_DNA2_5end

Enhancer

Chrom	Start	End	Genehancer ID	Score	Attributes
chr10	GH10I068150	68150878	68158393	1.68	[{'connected_gene': 'MYPN', 'score': 23.23}, {'connected_gene': 'SIRT1', 'score': 16.98}, {'connected_gene': 'HERC4', 'score': 10.77}, {'connected_gene': 'ATOH7', 'score': 10.54}, {'connected_gene': 'ENSG00000233590', 'score': 10.52}, {'connected_gene': 'RN7SKP202', 'score': 6.89}, {'connected_gene': 'DNA2', 'score': 5.97}, {'connected_gene': 'PBLD', 'score': 1.68}, {'connected_gene': 'HNRNPH3', 'score': 1.46}]
chr10	GH10I068161	68160750	68161367	0.31	[{'connected_gene': 'MYPN', 'score': 12.36}, {'connected_gene': 'DNA2', 'score': 7.81}, {'connected_gene': 'RN7SKP202', 'score': 0.77}, {'connected_gene': 'GC10M068220', 'score': 0.22}]
chr10	GH10I068526	68526176	68528415	2.1	[{'connected_gene': 'SLC25A16', 'score': 558.75}, {'connected_gene': 'DDX50', 'score': 34.02}, {'connected_gene': 'DNA2', 'score': 29.84}, {'connected_gene': 'CCAR1', 'score': 27.76}, {'connected_gene': 'HNRNPH3', 'score': 23.88}, {'connected_gene': 'HERC4', 'score': 23.84}, {'connected_gene': 'SIRT1', 'score': 20.89}, {'connected_gene': 'RPL26P27', 'score': 14.33}, {'connected_gene': 'SUPV3L1', 'score': 12.09}, {'connected_gene': 'MIR1254-1', 'score': 11.5}, {'connected_gene': 'TET1', 'score': 10.83}, {'connected_gene': 'DDX21', 'score': 9.7}, {'connected_gene': 'ENSG00000207438', 'score': 0.34}]
chr10	GH10I068496	68496124	68496313	0.31	[{'connected_gene': 'SLC25A16', 'score': 12.12}, {'connected_gene': 'RPL26P27', 'score': 0.77}, {'connected_gene': 'DNA2', 'score': 0.34}]
chr10	GH10I068559	68559684	68564017	2.07	[{'connected_gene': 'TET1', 'score': 550.77}, {'connected_gene': 'CCAR1', 'score': 51.11}, {'connected_gene': 'DDX50', 'score': 46.04}, {'connected_gene': 'HERC4', 'score': 44.35}, {'connected_gene': 'HNRNPH3', 'score': 21.91}, {'connected_gene': 'SIRT1', 'score': 21.54}, {'connected_gene': 'DNA2', 'score': 17.68}, {'connected_gene': 'RPL26P27', 'score': 11.17}, {'connected_gene': 'ATOH7', 'score': 4.14}, {'connected_gene': 'GC10P068600', 'score': 0.28}]
chr10	GH10I068173	68173062	68174013	0.7	[{'connected_gene': 'CCAR1', 'score': 17.48}, {'connected_gene': 'MYPN', 'score': 12.9}, {'connected_gene': 'HERC4', 'score': 12.05}, {'connected_gene': 'HNRNPH3', 'score': 11.15}, {'connected_gene': 'DDX50', 'score': 11.1}, {'connected_gene': 'SIRT1', 'score': 10.29}, {'connected_gene': 'DNA2', 'score': 4.69}, {'connected_gene': 'RN7SKP202', 'score': 0.37}, {'connected_gene': 'GC10M068220', 'score': 0.25}]
chr10	GH10I068405	68405428	68408216	2.03	[{'connected_gene': 'RUFY2', 'score': 550.77}, {'connected_gene': 'DDX50', 'score': 21.39}, {'connected_gene': 'SIRT1', 'score': 19.84}, {'connected_gene': 'DNA2', 'score': 18.69}, {'connected_gene': 'HNRNPH3', 'score': 13.16}, {'connected_gene': 'TET1', 'score': 10.64}, {'connected_gene': 'PBLD', 'score': 0.19}]
chr10	GH10I068327	68327728	68336812	2.63	[{'connected_gene': 'HNRNPH3', 'score': 595.67}, {'connected_gene': 'PBLD', 'score': 552.82}, {'connected_gene': 'DDX50', 'score': 46.3}, {'connected_gene': 'HERC4', 'score': 41.76}, {'connected_gene': 'CCAR1', 'score': 35.46}, {'connected_gene': 'SIRT1', 'score': 22.14}, {'connected_gene': 'DNA2', 'score': 19.78}, {'connected_gene': 'RPL26P27', 'score': 19.14}, {'connected_gene': 'TET1', 'score': 11.05}, {'connected_gene': 'RPS3AP38', 'score': 10.56}]
chr10	GH10I068188	68188103	68188428	0.24	[{'connected_gene': 'ATOH7', 'score': 11.27}, {'connected_gene': 'ENSG00000233590', 'score': 11.24}, {'connected_gene': 'PBLD', 'score': 9.78}, {'connected_gene': 'HNRNPH3', 'score': 9.78}, {'connected_gene': 'DNA2', 'score': 9.16}, {'connected_gene': 'MYPN', 'score': 3.38}, {'connected_gene': 'RUFY2', 'score': 1.42}, {'connected_gene': 'GC10M068220', 'score': 0.29}, {'connected_gene': 'RN7SKP202', 'score': 0.29}]
chr10	GH10I068617	68617275	68619548	0.66	[{'connected_gene': 'STOX1', 'score': 9.84}, {'connected_gene': 'KIF1BP', 'score': 7.91}, {'connected_gene': 'DNA2', 'score': 5.76}, {'connected_gene': 'COX20P1', 'score': 0.39}, {'connected_gene': 'GC10P068600', 'score': 0.37}, {'connected_gene': 'TET1', 'score': 0.22}]
chr10	GH10I068516	68516122	68518120	0.49	[{'connected_gene': 'DNA2', 'score': 27.95}, {'connected_gene': 'ENSG00000207438', 'score': 0.39}, {'connected_gene': 'SLC25A16', 'score': 0.39}]
chr10	GH10I068554	68554546	68555651	0.9	[{'connected_gene': 'DNA2', 'score': 18.27}, {'connected_gene': 'TET1', 'score': 0.44}, {'connected_gene': 'TMEM14DP', 'score': 0.39}]
chr10	GH10I068470	68470121	68472593	2.06	[{'connected_gene': 'DNA2', 'score': 585.55}, {'connected_gene': 'GC10P068471', 'score': 550.77}, {'connected_gene': 'DDX50', 'score': 19.84}, {'connected_gene': 'HERC4', 'score': 12.96}, {'connected_gene': 'SLC25A16', 'score': 11.9}, {'connected_gene': 'CCAR1', 'score': 10.03}, {'connected_gene': 'MIR1254-1', 'score': 10.03}, {'connected_gene': 'RNA5SP319', 'score': 0.44}]
chr10	GH10I068347	68347385	68348167	0.46	[{'connected_gene': 'DNA2', 'score': 18.56}, {'connected_gene': 'HERC4', 'score': 9.93}, {'connected_gene': 'CCAR1', 'score': 9.92}, {'connected_gene': 'MIR1254-1', 'score': 9.91}, {'connected_gene': 'SNORD98', 'score': 9.58}, {'connected_gene': 'PBLD', 'score': 0.39}, {'connected_gene': 'RUFY2', 'score': 0.22}]
chr10	GH10I068318	68318113	68319768	0.68	[{'connected_gene': 'DNA2', 'score': 14.39}, {'connected_gene': 'ATOH7', 'score': 4.77}, {'connected_gene': 'PBLD', 'score': 0.39}, {'connected_gene': 'HNRNPH3', 'score': 0.39}, {'connected_gene': 'KRT19P4', 'score': 0.22}]
chr10	GH10I068423	68423544	68423693	0.2	[{'connected_gene': 'RPL26P29', 'score': 550.77}, {'connected_gene': 'GC10P068413', 'score': 0.39}, {'connected_gene': 'DNA2', 'score': 0.25}]
chr10	GH10I068303	68303924	68307474	0.74	[{'connected_gene': 'ENSG00000233590', 'score': 23.33}, {'connected_gene': 'SIRT1', 'score': 14.39}, {'connected_gene': 'ATOH7', 'score': 11.96}, {'connected_gene': 'PBLD', 'score': 11.6}, {'connected_gene': 'HNRNPH3', 'score': 11.6}, {'connected_gene': 'CCAR1', 'score': 5.78}, {'connected_gene': 'DNA2', 'score': 4.96}, {'connected_gene': 'RUFY2', 'score': 4.54}, {'connected_gene': 'KRT19P4', 'score': 0.25}]
chr10	GH10I068299	68299909	68301600	0.63	[{'connected_gene': 'ENSG00000233590', 'score': 22.95}, {'connected_gene': 'ATOH7', 'score': 11.97}, {'connected_gene': 'PBLD', 'score': 11.45}, {'connected_gene': 'HNRNPH3', 'score': 11.45}, {'connected_gene': 'DNA2', 'score': 8.51}, {'connected_gene': 'KRT19P4', 'score': 0.26}]