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
ENST00000361828 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193335572, 193335626], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415599]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193335572, 193335626], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
ENST00000361510 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193335572, 193335626], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415599]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193335572, 193335626], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
ENST00000361150 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415599]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
ENST00000361715 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193335572, 193335626], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415599]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193335572, 193335626], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
ENST00000361908 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415600]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
ENST00000392438 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415612]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
ENST00000392437 [[193311035, 193311198], [193332511, 193332830], [193333462, 193333559], [193336657, 193336709]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193336657, 193336709]]
ENST00000419435 [[193311069, 193311198], [193321288, 193321346], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193336657, 193336726]] [[193333483, 193333559], [193334966, 193335074], [193336657, 193336726]]
ENST00000392436 [[193311140, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193335572, 193335626], [193336657, 193336725], [193343880, 193343933]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193335572, 193335626], [193336657, 193336725], [193343880, 193343933]]
ENST00000487986 [[193332576, 193332830], [193333462, 193333559], [193334966, 193335074], [193336657, 193336725], [193346297, 193346333]] None
ENST00000434811 [[193332780, 193332830], [193333462, 193333559], [193334966, 193335074], [193335572, 193335626], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355001]] [[193332780, 193332830], [193333462, 193333559], [193334966, 193335074], [193335572, 193335626], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355001]]
ENST00000497189 [[193336615, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360774]] None
ENST00000495476 [[193343846, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355837]] None
ENST00000475899 [[193355004, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361940]] None
ENST00000483516 [[193363400, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193366249]] None
ENST00000482865 [[193366554, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377303]] None
ENST00000445863 [[193380679, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193385159, 193385244], [193386103, 193386720]] [[193380679, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193385159, 193385244], [193386103, 193386176]]
ENST00000429164 [[193384964, 193385069], [193386122, 193386410]] [[193384964, 193385069], [193386122, 193386410]]
ENST00000495261 [[193409182, 193409921], [193412394, 193415315]] None
NM_130831 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415600]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
NM_130833 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415600]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
NM_130832 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193335572, 193335626], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415600]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193335572, 193335626], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
NM_130835 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193335572, 193335626], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415600]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193335572, 193335626], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
NM_015560 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415600]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
NM_130836 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415600]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
NM_130834 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193335572, 193335626], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415600]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193335572, 193335626], [193336657, 193336725], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
NM_130837 [[193310932, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193335572, 193335626], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409921], [193412394, 193415600]] [[193311166, 193311198], [193332511, 193332830], [193333462, 193333559], [193334966, 193335074], [193335572, 193335626], [193336657, 193336725], [193343880, 193343991], [193349400, 193349454], [193353206, 193353311], [193354983, 193355070], [193355740, 193355854], [193360553, 193360634], [193360763, 193360838], [193361161, 193361233], [193361316, 193361416], [193361763, 193361894], [193363341, 193363414], [193363516, 193363589], [193364853, 193364969], [193365858, 193365923], [193366583, 193366660], [193372650, 193372816], [193374868, 193375021], [193376675, 193376784], [193377270, 193377350], [193380610, 193380751], [193382668, 193382785], [193384084, 193384178], [193384958, 193385069], [193409851, 193409916]]
Promoter
Chrom Start End Description
chr3 193310890 193310903 CAGE_peak_5_at_OPA1_5end
chr3 193310918 193310934 CAGE_peak_4_at_OPA1_5end
chr3 193310952 193310966 CAGE_peak_3_at_OPA1_5end
chr3 193310969 193311053 CAGE_peak_1_at_OPA1_5end
chr3 193311056 193311087 CAGE_peak_2_at_OPA1_5end
chr3 193311105 193311116 CAGE_peak_6_at_OPA1_5end

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