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
ENST00000581184 [[29765031, 29765139], [29771784, 29771803], [29772608, 29772653], [29772736, 29772780], [29775369, 29775448], [29782855, 29782973], [29784144, 29784214]] [[29772622, 29772653], [29772736, 29772780], [29775369, 29775448], [29782855, 29782973], [29784144, 29784214]]
ENST00000269202 [[29769986, 29770096], [29771784, 29771803], [29772608, 29772653], [29772736, 29772780], [29775369, 29775448], [29782855, 29782973], [29784144, 29784323], [29787214, 29787433], [29788081, 29788234], [29790463, 29790679], [29793078, 29793522], [29795044, 29795224], [29796953, 29797080], [29797723, 29797928], [29800193, 29800367]] [[29770033, 29770096], [29771784, 29771803], [29772608, 29772653], [29772736, 29772780], [29775369, 29775448], [29782855, 29782973], [29784144, 29784323], [29787214, 29787433], [29788081, 29788234], [29790463, 29790679], [29793078, 29793522], [29795044, 29795224], [29796953, 29797080], [29797723, 29797928], [29800193, 29800208]]
ENST00000581447 [[29769987, 29770096], [29771784, 29771803], [29772608, 29772653], [29772736, 29772780], [29775369, 29775448], [29782855, 29782973], [29784144, 29784323], [29787214, 29787433], [29788081, 29788234], [29790463, 29790679], [29793078, 29793522], [29795044, 29795224], [29796953, 29797080], [29797723, 29797928], [29800196, 29800367]] [[29770033, 29770096], [29771784, 29771803], [29772608, 29772653], [29772736, 29772780], [29775369, 29775448], [29782855, 29782973], [29784144, 29784323], [29787214, 29787433], [29788081, 29788234], [29790463, 29790679], [29793078, 29793522], [29795044, 29795224], [29796953, 29797080], [29797723, 29797928], [29800196, 29800208]]
ENST00000579919 [[29770001, 29770096], [29771784, 29771803], [29772608, 29772653], [29772736, 29772780], [29775369, 29775448], [29782855, 29783136]] None
NM_001308171 [[29769986, 29770096], [29771784, 29771803], [29772608, 29772653], [29772736, 29772780], [29775369, 29775448], [29782855, 29782973], [29784144, 29784323], [29787214, 29787433], [29788081, 29788234], [29790463, 29790679], [29793078, 29793522], [29795044, 29795224], [29796953, 29797080], [29797723, 29797928], [29800196, 29800367]] [[29770033, 29770096], [29771784, 29771803], [29772608, 29772653], [29772736, 29772780], [29775369, 29775448], [29782855, 29782973], [29784144, 29784323], [29787214, 29787433], [29788081, 29788234], [29790463, 29790679], [29793078, 29793522], [29795044, 29795224], [29796953, 29797080], [29797723, 29797928], [29800196, 29800208]]
NM_005925 [[29769986, 29770096], [29771784, 29771803], [29772608, 29772653], [29772736, 29772780], [29775369, 29775448], [29782855, 29782973], [29784144, 29784323], [29787214, 29787433], [29788081, 29788234], [29790463, 29790679], [29793078, 29793522], [29795044, 29795224], [29796953, 29797080], [29797723, 29797928], [29800193, 29800367]] [[29770033, 29770096], [29771784, 29771803], [29772608, 29772653], [29772736, 29772780], [29775369, 29775448], [29782855, 29782973], [29784144, 29784323], [29787214, 29787433], [29788081, 29788234], [29790463, 29790679], [29793078, 29793522], [29795044, 29795224], [29796953, 29797080], [29797723, 29797928], [29800193, 29800208]]
Promoter
Chrom Start End Description
chr18 29769978 29769989 CAGE_peak_2_at_MEP1B_5end
chr18 29769995 29770009 CAGE_peak_1_at_MEP1B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I032189 32189990 32190049 0.68 [{'connected_gene': 'MEP1B', 'score': 550.77}, {'connected_gene': 'CLUHP6', 'score': 0.44}, {'connected_gene': 'GAREM1', 'score': 0.06}]
chr18 GH18I032206 32206967 32210495 0.69 [{'connected_gene': 'TRAPPC8', 'score': 5.82}, {'connected_gene': 'GC18M032197', 'score': 0.44}, {'connected_gene': 'PIR59136', 'score': 0.44}, {'connected_gene': 'MEP1B', 'score': 0.34}, {'connected_gene': 'GAREM1', 'score': 0.07}]
chr18 GH18I032213 32213233 32215103 0.8 [{'connected_gene': 'PIR59136', 'score': 550.77}, {'connected_gene': 'MEP1B', 'score': 11.99}, {'connected_gene': 'GC18M032197', 'score': 0.37}, {'connected_gene': 'GAREM1', 'score': 0.07}]
chr18 GH18I032201 32201809 32202509 0.54 [{'connected_gene': 'GC18M032197', 'score': 0.77}, {'connected_gene': 'PIR59136', 'score': 0.39}, {'connected_gene': 'MEP1B', 'score': 0.37}, {'connected_gene': 'GAREM1', 'score': 0.06}]
chr18 GH18I032204 32204804 32205870 0.2 [{'connected_gene': 'GC18M032197', 'score': 0.44}, {'connected_gene': 'PIR59136', 'score': 0.44}, {'connected_gene': 'MEP1B', 'score': 0.34}, {'connected_gene': 'GAREM1', 'score': 0.06}]