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
ENST00000555290 [[76127334, 76127369], [76129397, 76129566], [76135758, 76135865], [76147887, 76147970], [76149892, 76149999], [76156534, 76156625]] None
ENST00000557636 [[76127610, 76127730], [76129397, 76129566], [76135758, 76135865], [76147887, 76147970], [76149892, 76149999], [76156534, 76156665], [76165530, 76165613], [76173360, 76173430], [76173965, 76174050], [76184203, 76184305], [76186077, 76186169], [76186938, 76187046], [76198680, 76198762], [76200331, 76200393], [76201537, 76201632], [76203908, 76203950], [76211437, 76211551], [76211832, 76211924], [76219235, 76219298], [76230957, 76231115], [76232404, 76232711], [76238076, 76238197], [76241826, 76241973], [76243089, 76243193], [76245917, 76246045], [76248829, 76248916], [76249489, 76249873], [76259255, 76259443], [76286349, 76286504], [76330009, 76330205], [76349027, 76349245], [76353042, 76353210]] [[76129492, 76129566], [76135758, 76135865], [76147887, 76147970], [76149892, 76149999], [76156534, 76156665], [76165530, 76165613], [76173360, 76173430], [76173965, 76174050], [76184203, 76184305], [76186077, 76186169], [76186938, 76187046], [76198680, 76198762], [76200331, 76200393], [76201537, 76201632], [76203908, 76203950], [76211437, 76211551], [76211832, 76211924], [76219235, 76219298], [76230957, 76231115], [76232404, 76232711], [76238076, 76238197], [76241826, 76241973], [76243089, 76243193], [76245917, 76246045], [76248829, 76248916], [76249489, 76249873], [76259255, 76259443], [76286349, 76286504], [76330009, 76330205], [76349027, 76349245], [76353042, 76353103]]
ENST00000286650 [[76127620, 76127730], [76129397, 76129566], [76135758, 76135865], [76147887, 76147970], [76149892, 76149999], [76156534, 76156665], [76165530, 76165613], [76173360, 76173430], [76173965, 76174050], [76175521, 76176171]] [[76129492, 76129566], [76135758, 76135865], [76147887, 76147970], [76149892, 76149999], [76156534, 76156665], [76165530, 76165613], [76173360, 76173430], [76173965, 76174050], [76175521, 76175591]]
ENST00000298832 [[76127620, 76127730], [76129397, 76129566], [76135758, 76135865], [76147887, 76147970], [76149892, 76149999], [76156534, 76156665], [76165530, 76165613], [76173360, 76173430], [76173965, 76174050], [76184203, 76184305], [76186077, 76186169], [76186938, 76187046], [76198680, 76198762], [76200331, 76200393], [76201537, 76201632], [76211437, 76211551], [76211832, 76211924], [76219235, 76219298], [76230957, 76231115], [76232404, 76232711], [76238076, 76238197], [76241826, 76241973], [76243089, 76243193], [76245917, 76246045], [76248829, 76248916], [76249489, 76249873], [76259258, 76259443], [76286349, 76286504], [76330009, 76330205], [76349027, 76349245], [76368484, 76368567], [76420766, 76421421]] [[76129492, 76129566], [76135758, 76135865], [76147887, 76147970], [76149892, 76149999], [76156534, 76156665], [76165530, 76165613], [76173360, 76173430], [76173965, 76174050], [76184203, 76184305], [76186077, 76186169], [76186938, 76187046], [76198680, 76198762], [76200331, 76200393], [76201537, 76201632], [76211437, 76211551], [76211832, 76211924], [76219235, 76219298], [76230957, 76231115], [76232404, 76232711], [76238076, 76238197], [76241826, 76241973], [76243089, 76243193], [76245917, 76246045], [76248829, 76248916], [76249489, 76249873], [76259258, 76259443], [76286349, 76286504], [76330009, 76330205], [76349027, 76349245], [76368484, 76368567], [76420766, 76420789]]
ENST00000556173 [[76135758, 76135865], [76147887, 76147970], [76149892, 76149999], [76156534, 76156665], [76165530, 76165613], [76173360, 76173430], [76173965, 76174050], [76175521, 76178844]] None
ENST00000556893 [[76211472, 76211551], [76211832, 76211924], [76219235, 76219298], [76224173, 76224212], [76230957, 76231115], [76232404, 76232711], [76238076, 76238197], [76241826, 76241973], [76243089, 76243193], [76245917, 76246045], [76248829, 76248916], [76249489, 76249873], [76259258, 76259443], [76286349, 76286504], [76330009, 76330205], [76349027, 76349245], [76353042, 76353639]] [[76211542, 76211551], [76211832, 76211924], [76219235, 76219298], [76224173, 76224212], [76230957, 76231115], [76232404, 76232711], [76238076, 76238197], [76241826, 76241973], [76243089, 76243193], [76245917, 76246045], [76248829, 76248916], [76249489, 76249873], [76259258, 76259443], [76286349, 76286504], [76330009, 76330205], [76349027, 76349245], [76353042, 76353103]]
ENST00000554510 [[76211830, 76211924], [76219235, 76219298], [76224173, 76224212], [76230957, 76231115], [76232404, 76232711], [76238076, 76238197], [76241826, 76241973], [76243089, 76243193], [76245917, 76246045], [76248829, 76248916], [76249489, 76249873], [76259258, 76259443], [76286349, 76286504], [76330009, 76330205], [76349027, 76349245], [76353042, 76353280]] [[76219260, 76219298], [76224173, 76224212], [76230957, 76231115], [76232404, 76232711], [76238076, 76238197], [76241826, 76241973], [76243089, 76243193], [76245917, 76246045], [76248829, 76248916], [76249489, 76249873], [76259258, 76259443], [76286349, 76286504], [76330009, 76330205], [76349027, 76349245], [76353042, 76353103]]
ENST00000555018 [[76259425, 76259443], [76286349, 76286504], [76286945, 76287111]] None
ENST00000608522 [[76269486, 76269596], [76286349, 76286504], [76286945, 76287111]] None
ENST00000554972 [[76349137, 76349245], [76368484, 76368567], [76372897, 76373020], [76420766, 76421171]] None
ENST00000554487 [[76368482, 76368567], [76407766, 76407837], [76420766, 76421166]] None
ENST00000556265 [[76099967, 76100039], [76101252, 76101356], [76129397, 76129507]] None
ENST00000554132 [[76099967, 76100039], [76129397, 76129507]] None
ENST00000556977 [[76127566, 76127730], [76129397, 76129566], [76135758, 76135865], [76147887, 76147970], [76149892, 76151330]] [[76129492, 76129566], [76135758, 76135865], [76147887, 76147970], [76149892, 76150003]]
ENST00000556685 [[76127575, 76127980], [76129397, 76129566], [76135758, 76135873]] None
ENST00000554185 [[76155763, 76156204], [76156534, 76156665]] None
ENST00000555422 [[76165559, 76165613], [76173360, 76173430], [76173965, 76174050], [76175521, 76175582], [76198498, 76198576], [76198680, 76198762], [76200331, 76200393], [76201537, 76201632], [76211437, 76211551], [76211832, 76211924], [76219235, 76219298], [76230957, 76231115], [76232404, 76232711], [76238076, 76238197], [76241826, 76241973], [76243047, 76243193], [76245921, 76246045], [76248829, 76248916], [76249489, 76249698]] None
ENST00000554935 [[76184154, 76184305], [76186077, 76186169], [76186938, 76187046], [76198680, 76198762], [76200331, 76200393], [76201537, 76201570]] None
ENST00000554148 [[76186121, 76186169], [76186938, 76187046], [76198680, 76198762], [76200331, 76200393], [76201537, 76201632], [76203908, 76203950], [76211437, 76211551], [76211832, 76211924], [76219235, 76219297]] None
ENST00000554878 [[76201537, 76201632], [76210719, 76211069]] None
ENST00000556976 [[76211461, 76211551], [76211832, 76211924], [76219235, 76219298], [76224173, 76224212], [76230957, 76231115], [76232404, 76232475]] None
ENST00000557219 [[76349061, 76349245], [76368484, 76368847]] None
NM_015072 [[76127550, 76127730], [76129397, 76129566], [76135758, 76135865], [76147887, 76147970], [76149892, 76149999], [76156534, 76156665], [76165530, 76165613], [76173360, 76173430], [76173965, 76174050], [76184203, 76184305], [76186077, 76186169], [76186938, 76187046], [76198680, 76198762], [76200331, 76200393], [76201537, 76201632], [76211437, 76211551], [76211832, 76211924], [76219235, 76219298], [76230957, 76231115], [76232404, 76232711], [76238076, 76238197], [76241826, 76241973], [76243089, 76243193], [76245917, 76246045], [76248829, 76248916], [76249489, 76249873], [76259258, 76259443], [76286349, 76286504], [76330009, 76330205], [76349027, 76349245], [76368484, 76368567], [76420766, 76421425]] [[76129492, 76129566], [76135758, 76135865], [76147887, 76147970], [76149892, 76149999], [76156534, 76156665], [76165530, 76165613], [76173360, 76173430], [76173965, 76174050], [76184203, 76184305], [76186077, 76186169], [76186938, 76187046], [76198680, 76198762], [76200331, 76200393], [76201537, 76201632], [76211437, 76211551], [76211832, 76211924], [76219235, 76219298], [76230957, 76231115], [76232404, 76232711], [76238076, 76238197], [76241826, 76241973], [76243089, 76243193], [76245917, 76246045], [76248829, 76248916], [76249489, 76249873], [76259258, 76259443], [76286349, 76286504], [76330009, 76330205], [76349027, 76349245], [76368484, 76368567], [76420766, 76420789]]
Promoter
Chrom Start End Description
chr14 76127312 76127351 CAGE_peak_3_at_TTLL5_5end
chr14 76127381 76127402 CAGE_peak_5_at_TTLL5_5end
chr14 76127529 76127647 CAGE_peak_1_at_TTLL5_5end
chr14 76127798 76127841 CAGE_peak_2_at_TTLL5_5end