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
ENST00000435820 [[22235253, 22235437], [22243309, 22243430], [22255610, 22255737], [22256270, 22256366], [22270778, 22273905]] [[22235434, 22235437], [22243309, 22243414]]
ENST00000594363 [[22235285, 22235437], [22255610, 22255737], [22256270, 22256366], [22257173, 22257355]] [[22235434, 22235437], [22255610, 22255737], [22256270, 22256366], [22257173, 22257355]]
ENST00000597927 [[22235285, 22235437], [22270778, 22271178]] [[22270780, 22271178]]
ENST00000594947 [[22235290, 22235437], [22255610, 22255737], [22256270, 22256366], [22270778, 22274282]] [[22235434, 22235437], [22255610, 22255737], [22256270, 22256366], [22270778, 22272244]]
ENST00000597796 [[22235310, 22235437], [22243309, 22243430], [22255610, 22255737], [22256270, 22256366], [22258171, 22258667]] [[22235434, 22235437], [22243309, 22243414]]
ENST00000596471 [[22235325, 22235437], [22243309, 22243430], [22246880, 22247134]] None
ENST00000600162 [[22235337, 22235437], [22255610, 22255737], [22256270, 22256366], [22270332, 22270397], [22270778, 22271207]] [[22235434, 22235437], [22255610, 22255737], [22256270, 22256366], [22270332, 22270355]]
NM_001316998 [[22235249, 22235437], [22270778, 22273905]] [[22270780, 22272244]]
NM_033468 [[22235249, 22235437], [22255610, 22255737], [22256270, 22256366], [22270778, 22273905]] [[22235434, 22235437], [22255610, 22255737], [22256270, 22256366], [22270778, 22272244]]
NM_001316997 [[22235249, 22235437], [22255610, 22255737], [22256270, 22256366], [22270332, 22270397], [22270778, 22273905]] [[22270780, 22272244]]
NM_001316996 [[22235249, 22235437], [22243309, 22243430], [22255610, 22255737], [22256270, 22256366], [22270778, 22273905]] [[22255703, 22255737], [22256270, 22256366], [22270778, 22272244]]
Promoter
Chrom Start End Description
chr19 22235279 22235301 CAGE_peak_1_at_ZNF257_5end
chr19 22235310 22235319 CAGE_peak_2_at_ZNF257_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I022429 22427465 22427740 0.27 [{'connected_gene': 'ZNF208', 'score': 15.49}, {'connected_gene': 'ZNF98', 'score': 8.49}, {'connected_gene': 'ZNF257', 'score': 2.27}, {'connected_gene': 'ZNF492', 'score': 2.18}, {'connected_gene': 'ZNF676', 'score': 1.34}, {'connected_gene': 'GC19M022427', 'score': 0.77}, {'connected_gene': 'ENSG00000269796', 'score': 0.44}]
chr19 GH19I022541 22541814 22542054 0.22 [{'connected_gene': 'ZNF98', 'score': 2.92}, {'connected_gene': 'ZNF257', 'score': 1.67}, {'connected_gene': 'ZNF492', 'score': 1.41}, {'connected_gene': 'GC19M022543', 'score': 0.77}, {'connected_gene': 'LINC01233', 'score': 0.44}]
chr19 GH19I022051 22051839 22053400 1.72 [{'connected_gene': 'ZNF257', 'score': 566.83}, {'connected_gene': 'BNIP3P29', 'score': 11.14}, {'connected_gene': 'ZNF208', 'score': 5.36}, {'connected_gene': 'ENSG00000269199', 'score': 0.77}, {'connected_gene': 'PIR50216', 'score': 0.77}]