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
ENST00000275159 [[121401382, 121402036], [121411998, 121412187], [121427168, 121427309], [121433650, 121433805], [121434207, 121434323], [121436317, 121436387], [121447523, 121447607], [121452772, 121452898], [121481155, 121481249], [121482093, 121482202], [121491550, 121491673], [121526220, 121526309], [121544381, 121544498], [121560215, 121560334], [121562610, 121562698], [121563346, 121563485], [121576473, 121576556], [121577229, 121577431], [121600266, 121600391], [121602689, 121602832], [121604963, 121605056], [121613198, 121613339], [121615715, 121615806], [121620591, 121620651], [121624762, 121624907], [121625510, 121625572], [121625667, 121625771], [121625900, 121625979], [121629121, 121629247], [121631924, 121631993], [121638640, 121638818], [121642778, 121642940], [121655421, 121655576]] [[121401916, 121402036], [121411998, 121412187], [121427168, 121427309], [121433650, 121433805], [121434207, 121434323], [121436317, 121436387], [121447523, 121447607], [121452772, 121452898], [121481155, 121481249], [121482093, 121482202], [121491550, 121491673], [121526220, 121526309], [121544381, 121544498], [121560215, 121560334], [121562610, 121562698], [121563346, 121563485], [121576473, 121576556], [121577229, 121577431], [121600266, 121600391], [121602689, 121602832], [121604963, 121605056], [121613198, 121613339], [121615715, 121615806], [121620591, 121620651], [121624762, 121624907], [121625510, 121625572], [121625667, 121625771], [121625900, 121625979], [121629121, 121629247], [121631924, 121631993], [121638640, 121638818], [121642778, 121642940], [121655421, 121655576]]
ENST00000464622 [[121401382, 121402036], [121411998, 121412187], [121427168, 121427309], [121433650, 121433805], [121434207, 121434323], [121436317, 121436893], [121447523, 121447607], [121452772, 121452898], [121460919, 121460982], [121481155, 121481249], [121482093, 121482202], [121491550, 121491673], [121513520, 121513688], [121526220, 121526309], [121544381, 121544498], [121545508, 121545597], [121560215, 121560334], [121562610, 121562698], [121563346, 121563485], [121576473, 121576556], [121577229, 121577431], [121600266, 121600391], [121602689, 121602832], [121604963, 121605056], [121613198, 121613339], [121615715, 121615806], [121620591, 121620651], [121624762, 121624907], [121625510, 121625572], [121625667, 121625771], [121625900, 121625979], [121629121, 121629247], [121631924, 121631993], [121638640, 121638836], [121642778, 121642940], [121655421, 121655624]] [[121638826, 121638836], [121642778, 121642940], [121655421, 121655576]]
ENST00000398212 [[121401916, 121402036], [121411998, 121412187], [121427168, 121427309], [121433650, 121433805], [121434207, 121434323], [121436317, 121436387], [121447523, 121447607], [121452772, 121452898], [121481155, 121481249], [121482093, 121482202], [121526220, 121526309], [121544381, 121544498], [121560215, 121560334], [121562610, 121562698], [121563346, 121563485], [121576473, 121576556], [121577229, 121577431], [121600266, 121600391], [121602689, 121602832], [121604963, 121605056], [121613198, 121613339], [121615715, 121615806], [121620591, 121620651], [121624762, 121624907], [121625510, 121625572], [121625667, 121625771], [121625900, 121625979], [121629121, 121629247], [121631924, 121631993], [121638640, 121638818], [121642778, 121642940], [121655421, 121655626]] [[121401916, 121402036], [121411998, 121412187], [121427168, 121427309], [121433650, 121433805], [121434207, 121434323], [121436317, 121436387], [121447523, 121447607], [121452772, 121452898], [121481155, 121481249], [121482093, 121482202], [121526220, 121526309], [121544381, 121544498], [121560215, 121560334], [121562610, 121562698], [121563346, 121563485], [121576473, 121576556], [121577229, 121577431], [121600266, 121600391], [121602689, 121602832], [121604963, 121605056], [121613198, 121613339], [121615715, 121615806], [121620591, 121620651], [121624762, 121624907], [121625510, 121625572], [121625667, 121625771], [121625900, 121625979], [121629121, 121629247], [121631924, 121631993], [121638640, 121638818], [121642778, 121642940], [121655421, 121655576]]
ENST00000422369 [[121629170, 121629247], [121631924, 121631993], [121638640, 121638818], [121642778, 121642940], [121655421, 121655577], [121655763, 121655891]] [[121629170, 121629247], [121631924, 121631993], [121638640, 121638818], [121642778, 121642940]]
ENST00000398197 [[121400639, 121402036], [121411998, 121412187], [121427168, 121427309], [121433650, 121433805], [121434207, 121434323], [121436317, 121436387], [121447523, 121447607], [121452772, 121452898], [121481155, 121481249], [121482093, 121482202], [121544381, 121544498], [121558116, 121558208]] None
ENST00000519972 [[121402004, 121402036], [121411998, 121412187], [121427168, 121427316]] None
ENST00000368464 [[121417055, 121417404], [121427168, 121427309], [121433650, 121433805], [121434207, 121434323], [121436317, 121436462]] None
ENST00000509492 [[121433531, 121433805], [121434207, 121434323], [121436317, 121436387], [121447523, 121447607], [121451014, 121451070], [121452772, 121452898], [121481155, 121481183]] [[121451020, 121451070], [121452772, 121452898], [121481155, 121481183]]
ENST00000523345 [[121447600, 121447607], [121452772, 121452898], [121481155, 121481249], [121482093, 121482202], [121484115, 121484208]] None
NR_104452 [[121400639, 121402036], [121411998, 121412187], [121427168, 121427309], [121433650, 121433805], [121434207, 121434323], [121436317, 121436893], [121447523, 121447607], [121452772, 121452898], [121460919, 121460982], [121481155, 121481249], [121482093, 121482202], [121491550, 121491673], [121513520, 121513688], [121526220, 121526309], [121544381, 121544498], [121545508, 121545597], [121560215, 121560334], [121562610, 121562698], [121563346, 121563485], [121576473, 121576556], [121577229, 121577431], [121600266, 121600391], [121602689, 121602832], [121604963, 121605056], [121613198, 121613339], [121615715, 121615806], [121620591, 121620651], [121624762, 121624907], [121625510, 121625572], [121625667, 121625771], [121625900, 121625979], [121629121, 121629247], [121631924, 121631993], [121638640, 121638836], [121642778, 121642940], [121655421, 121655646]] None
NM_152730 [[121400639, 121402036], [121411998, 121412187], [121427168, 121427309], [121433650, 121433805], [121434207, 121434323], [121436317, 121436387], [121447523, 121447607], [121452772, 121452898], [121481155, 121481249], [121482093, 121482202], [121526220, 121526309], [121544381, 121544498], [121560215, 121560334], [121562610, 121562698], [121563346, 121563485], [121576473, 121576556], [121577229, 121577431], [121600266, 121600391], [121602689, 121602832], [121604963, 121605056], [121613198, 121613339], [121615715, 121615806], [121620591, 121620651], [121624762, 121624907], [121625510, 121625572], [121625667, 121625771], [121625900, 121625979], [121629121, 121629247], [121631924, 121631993], [121638640, 121638818], [121642778, 121642940], [121655421, 121655646]] [[121401916, 121402036], [121411998, 121412187], [121427168, 121427309], [121433650, 121433805], [121434207, 121434323], [121436317, 121436387], [121447523, 121447607], [121452772, 121452898], [121481155, 121481249], [121482093, 121482202], [121526220, 121526309], [121544381, 121544498], [121560215, 121560334], [121562610, 121562698], [121563346, 121563485], [121576473, 121576556], [121577229, 121577431], [121600266, 121600391], [121602689, 121602832], [121604963, 121605056], [121613198, 121613339], [121615715, 121615806], [121620591, 121620651], [121624762, 121624907], [121625510, 121625572], [121625667, 121625771], [121625900, 121625979], [121629121, 121629247], [121631924, 121631993], [121638640, 121638818], [121642778, 121642940], [121655421, 121655576]]
Promoter
Chrom Start End Description
chr6 121655552 121655592 CAGE_peak_4_at_C6orf170_5end
chr6 121655593 121655661 CAGE_peak_1_at_C6orf170_5end
chr6 121655850 121655885 CAGE_peak_2_at_C6orf170_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I121434 121434400 121440654 2.54 [{'connected_gene': 'GJA1', 'score': 560.6}, {'connected_gene': 'GC06P121435', 'score': 550.77}, {'connected_gene': 'RNU2-8P', 'score': 9.84}, {'connected_gene': 'TBC1D32', 'score': 5.12}, {'connected_gene': 'GC06P121443', 'score': 0.44}]
chr6 GH06I121078 121078574 121078792 0.22 [{'connected_gene': 'TBC1D32', 'score': 9.46}, {'connected_gene': 'LOC105377977', 'score': 0.19}]
chr6 GH06I121333 121333191 121335849 2.04 [{'connected_gene': 'TBC1D32', 'score': 557.3}, {'connected_gene': 'LOC105377977', 'score': 0.06}]
chr6 GH06I121075 121075582 121075966 0.39 [{'connected_gene': 'TBC1D32', 'score': 1.44}, {'connected_gene': 'LOC105377977', 'score': 0.19}]
chr6 GH06I121187 121187915 121188064 0.69 [{'connected_gene': 'TBC1D32', 'score': 0.11}, {'connected_gene': 'LOC105377977', 'score': 0.09}]
chr6 GH06I121309 121309004 121311261 0.31 [{'connected_gene': 'TBC1D32', 'score': 16.23}, {'connected_gene': 'LOC105377977', 'score': 0.06}]
chr6 GH06I121077 121077455 121077805 0.22 [{'connected_gene': 'TBC1D32', 'score': 4.71}, {'connected_gene': 'LOC105377977', 'score': 0.19}]
chr6 GH06I121042 121042665 121044424 0.57 [{'connected_gene': 'LOC105377977', 'score': 0.28}, {'connected_gene': 'TBC1D32', 'score': 0.06}]
chr6 GH06I121381 121381613 121384568 0.62 [{'connected_gene': 'GC06P121382', 'score': 550.77}, {'connected_gene': 'RPS15AP21', 'score': 550.77}, {'connected_gene': 'TBC1D32', 'score': 11.45}, {'connected_gene': 'ENSG00000272714', 'score': 0.44}]