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
ENST00000258198 [[66754795, 66757725], [66759730, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766377], [66768120, 66768214], [66769977, 66770147], [66776340, 66776571], [66783099, 66783216], [66785175, 66785249], [66785387, 66785701]] [[66757624, 66757725], [66759730, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766377], [66768120, 66768214], [66769977, 66770147], [66776340, 66776571], [66783099, 66783216], [66785175, 66785249], [66785387, 66785494]]
ENST00000379482 [[66757277, 66757330], [66770099, 66770147], [66776340, 66776571], [66783099, 66783216], [66785175, 66785249], [66785387, 66785500]] [[66757277, 66757330], [66770099, 66770147], [66776340, 66776571], [66783099, 66783216], [66785175, 66785249], [66785387, 66785494]]
ENST00000443351 [[66757380, 66757725], [66759730, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766377], [66768120, 66768214], [66769977, 66770147], [66783099, 66783216], [66785175, 66785249], [66785387, 66785504]] [[66757624, 66757725], [66759730, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766377], [66768120, 66768214], [66769977, 66770147], [66783099, 66783216], [66785175, 66785249], [66785387, 66785494]]
ENST00000563628 [[66757472, 66757725], [66762103, 66762145], [66762942, 66763002]] [[66757677, 66757725], [66762103, 66762145], [66762942, 66763002]]
ENST00000569320 [[66757487, 66757725], [66759730, 66759847], [66761590, 66761708], [66762942, 66763002], [66764014, 66764122]] [[66757624, 66757725], [66759730, 66759847], [66761590, 66761708], [66762942, 66763002], [66764014, 66764122]]
ENST00000564559 [[66757503, 66757725], [66758564, 66758651], [66759730, 66759847], [66761590, 66761708], [66762103, 66762122]] [[66758628, 66758651], [66759730, 66759847], [66761590, 66761708], [66762103, 66762122]]
ENST00000567499 [[66757503, 66757725], [66759730, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66767449]] None
ENST00000568453 [[66757508, 66757725], [66759730, 66759847], [66764014, 66764251]] None
ENST00000564833 [[66759751, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766540]] None
ENST00000565532 [[66761899, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766350], [66768120, 66768214], [66769977, 66770100]] None
ENST00000570201 [[66762942, 66763002], [66764014, 66764126], [66764817, 66764937]] None
ENST00000440564 [[66765911, 66766377], [66768120, 66768214], [66769977, 66770147], [66776340, 66776571], [66785175, 66785249], [66785387, 66785497]] [[66766237, 66766377], [66768120, 66768214], [66769977, 66770147], [66776340, 66776571], [66785175, 66785249], [66785387, 66785494]]
ENST00000561727 [[66767875, 66768214], [66769977, 66770140]] None
ENST00000566150 [[66770004, 66770147], [66776340, 66776457], [66783099, 66783216], [66785175, 66785249], [66785387, 66785504]] [[66770004, 66770147], [66776340, 66776457], [66783099, 66783216], [66785175, 66785249], [66785387, 66785494]]
ENST00000568180 [[66770070, 66770147], [66776340, 66776571], [66783099, 66783216], [66785175, 66785206], [66785387, 66785504]] [[66783183, 66783216], [66785175, 66785206], [66785387, 66785494]]
ENST00000564090 [[66776353, 66776571], [66783099, 66783216], [66785175, 66785289], [66785387, 66785504]] [[66785273, 66785289], [66785387, 66785494]]
NR_136658 [[66754795, 66757725], [66758564, 66758651], [66759730, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766377], [66768120, 66768214], [66769977, 66770147], [66776340, 66776571], [66783099, 66783216], [66785175, 66785249], [66785387, 66785731]] None
NM_001323955 [[66754795, 66757725], [66759730, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766377], [66768120, 66768214], [66769977, 66770147], [66776340, 66776571], [66785175, 66785249], [66785387, 66785731]] [[66757624, 66757725], [66759730, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766377], [66768120, 66768214], [66769977, 66770147], [66776340, 66776571], [66785175, 66785249], [66785387, 66785494]]
NM_006141 [[66754798, 66757725], [66759730, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766377], [66768120, 66768214], [66769977, 66770147], [66776340, 66776571], [66783099, 66783216], [66785175, 66785249], [66785387, 66785525]] [[66757624, 66757725], [66759730, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766377], [66768120, 66768214], [66769977, 66770147], [66776340, 66776571], [66783099, 66783216], [66785175, 66785249], [66785387, 66785494]]
NM_001286157 [[66754798, 66757725], [66759730, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766377], [66768120, 66768214], [66769977, 66770147], [66783099, 66783216], [66785175, 66785249], [66785387, 66785525]] [[66757624, 66757725], [66759730, 66759847], [66761590, 66761708], [66762103, 66762145], [66762942, 66763002], [66764014, 66764126], [66766241, 66766377], [66768120, 66768214], [66769977, 66770147], [66783099, 66783216], [66785175, 66785249], [66785387, 66785494]]
Promoter
Chrom Start End Description
chr16 66756823 66756840 CAGE_peak_3_at_DYNC1LI2_5end
chr16 66785497 66785529 CAGE_peak_1_at_DYNC1LI2_5end
chr16 66785699 66785759 CAGE_peak_2_at_DYNC1LI2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I066996 66996292 66997858 1.54 [{'connected_gene': 'ATP6V0D1', 'score': 7.98}, {'connected_gene': 'CES4A', 'score': 5.15}, {'connected_gene': 'DYNC1LI2', 'score': 4.82}, {'connected_gene': 'CA7', 'score': 2.54}, {'connected_gene': 'CMTM4', 'score': 1.32}, {'connected_gene': 'HSF4', 'score': 1.22}, {'connected_gene': 'PIR35653', 'score': 0.44}, {'connected_gene': 'GC16P067006', 'score': 0.44}, {'connected_gene': 'GC16P066989', 'score': 0.44}]
chr16 GH16I066871 66871289 66876391 1.89 [{'connected_gene': 'NAE1', 'score': 550.77}, {'connected_gene': 'CES2', 'score': 24.74}, {'connected_gene': 'E2F4', 'score': 16.72}, {'connected_gene': 'CA7', 'score': 15.97}, {'connected_gene': 'PLEKHG4', 'score': 12.66}, {'connected_gene': 'ZDHHC1', 'score': 12.48}, {'connected_gene': 'ENSG00000260465', 'score': 11.29}, {'connected_gene': 'FAM96B', 'score': 10.87}, {'connected_gene': 'FBXL8', 'score': 10.25}, {'connected_gene': 'CTCF', 'score': 10.19}, {'connected_gene': 'TRADD', 'score': 10.12}, {'connected_gene': 'FHOD1', 'score': 7.82}, {'connected_gene': 'B3GNT9', 'score': 7.27}, {'connected_gene': 'LINC00920', 'score': 5.85}, {'connected_gene': 'CDH16', 'score': 5.19}, {'connected_gene': 'TERB1', 'score': 4.89}, {'connected_gene': 'PDP2', 'score': 3.26}, {'connected_gene': 'CMTM4', 'score': 3.03}, {'connected_gene': 'CES4A', 'score': 2.92}, {'connected_gene': 'DYNC1LI2', 'score': 2.27}, {'connected_gene': 'SLC9A5', 'score': 2.14}, {'connected_gene': 'CES3', 'score': 2.09}, {'connected_gene': 'KIAA0895L', 'score': 1.66}, {'connected_gene': 'CBFB', 'score': 1.19}]
chr16 GH16I066826 66826531 66826590 0.5 [{'connected_gene': 'NAE1', 'score': 550.25}, {'connected_gene': 'TERB1', 'score': 12.25}, {'connected_gene': 'LOC106699570', 'score': 10.91}, {'connected_gene': 'DYNC1LI2', 'score': 10.91}, {'connected_gene': 'CA7', 'score': 0.37}]
chr16 GH16I066728 66728548 66729987 0.77 [{'connected_gene': 'CES2', 'score': 10.77}, {'connected_gene': 'TERB1', 'score': 8.53}, {'connected_gene': 'CMTM3', 'score': 7.88}, {'connected_gene': 'ENSG00000260558', 'score': 0.44}, {'connected_gene': 'ENSG00000260465', 'score': 0.44}, {'connected_gene': 'DYNC1LI2', 'score': 0.34}]
chr16 GH16I066730 66730026 66733459 0.31 [{'connected_gene': 'CES2', 'score': 11.98}, {'connected_gene': 'CMTM4', 'score': 11.26}, {'connected_gene': 'CA7', 'score': 10.69}, {'connected_gene': 'BEAN1', 'score': 9.23}, {'connected_gene': 'TERB1', 'score': 8.54}, {'connected_gene': 'CMTM3', 'score': 7.88}, {'connected_gene': 'ENSG00000260558', 'score': 0.44}, {'connected_gene': 'ENSG00000260465', 'score': 0.39}, {'connected_gene': 'DYNC1LI2', 'score': 0.34}]
chr16 GH16I066801 66801574 66801633 0.61 [{'connected_gene': 'TERB1', 'score': 550.77}, {'connected_gene': 'DYNC1LI2', 'score': 0.25}]
chr16 GH16I066716 66716832 66718741 0.89 [{'connected_gene': 'TERB1', 'score': 19.66}, {'connected_gene': 'LOC106699570', 'score': 11.76}, {'connected_gene': 'DYNC1LI2', 'score': 11.76}, {'connected_gene': 'CMTM4', 'score': 11.5}, {'connected_gene': 'ENSG00000260465', 'score': 0.77}, {'connected_gene': 'GC16M066696', 'score': 0.39}]
chr16 GH16I066746 66746708 66747007 0.76 [{'connected_gene': 'TERB1', 'score': 8.57}, {'connected_gene': 'LOC106699570', 'score': 0.77}, {'connected_gene': 'DYNC1LI2', 'score': 0.77}, {'connected_gene': 'ENSG00000260558', 'score': 0.44}]
chr16 GH16I066714 66714189 66715582 0.43 [{'connected_gene': 'DYNC1LI2', 'score': 11.1}, {'connected_gene': 'LOC106699570', 'score': 11.1}, {'connected_gene': 'CA7', 'score': 10.47}, {'connected_gene': 'BEAN1', 'score': 9.84}, {'connected_gene': 'TERB1', 'score': 8.59}, {'connected_gene': 'CMTM3', 'score': 7.89}, {'connected_gene': 'ENSG00000260465', 'score': 0.44}, {'connected_gene': 'GC16M066696', 'score': 0.44}]
chr16 GH16I066650 66650559 66651663 1.08 [{'connected_gene': 'BEAN1', 'score': 13.76}, {'connected_gene': 'CMTM4', 'score': 12.51}, {'connected_gene': 'DYNC1LI2', 'score': 10.9}, {'connected_gene': 'LOC106699570', 'score': 10.9}, {'connected_gene': 'TK2', 'score': 8.05}, {'connected_gene': 'CMTM3', 'score': 6.99}, {'connected_gene': 'GC16P066646', 'score': 0.77}, {'connected_gene': 'GC16M066667', 'score': 0.34}]
chr16 GH16I066739 66739458 66743399 1.28 [{'connected_gene': 'CMTM4', 'score': 11.81}, {'connected_gene': 'BEAN1', 'score': 10.94}, {'connected_gene': 'CA7', 'score': 10.87}, {'connected_gene': 'CES2', 'score': 10.77}, {'connected_gene': 'TERB1', 'score': 8.92}, {'connected_gene': 'ENSG00000260558', 'score': 0.77}, {'connected_gene': 'LOC106699570', 'score': 0.39}, {'connected_gene': 'DYNC1LI2', 'score': 0.39}]
chr16 GH16I066659 66659979 66662800 1.21 [{'connected_gene': 'CMTM4', 'score': 17.0}, {'connected_gene': 'BEAN1', 'score': 13.73}, {'connected_gene': 'DYNC1LI2', 'score': 10.39}, {'connected_gene': 'LOC106699570', 'score': 10.39}, {'connected_gene': 'CA7', 'score': 10.06}, {'connected_gene': 'CES2', 'score': 8.24}, {'connected_gene': 'TK2', 'score': 4.5}, {'connected_gene': 'GC16M066667', 'score': 0.39}, {'connected_gene': 'GC16P066646', 'score': 0.39}]
chr16 GH16I066649 66649511 66650512 0.38 [{'connected_gene': 'CMTM4', 'score': 18.04}, {'connected_gene': 'LOC106699570', 'score': 10.9}, {'connected_gene': 'DYNC1LI2', 'score': 10.9}, {'connected_gene': 'TK2', 'score': 8.05}, {'connected_gene': 'GC16P066646', 'score': 0.77}, {'connected_gene': 'GC16M066667', 'score': 0.34}]
chr16 GH16I066652 66652001 66652400 0.2 [{'connected_gene': 'CMTM4', 'score': 12.53}, {'connected_gene': 'LOC106699570', 'score': 10.91}, {'connected_gene': 'DYNC1LI2', 'score': 10.91}, {'connected_gene': 'GC16P066646', 'score': 0.44}, {'connected_gene': 'GC16M066667', 'score': 0.34}]
chr16 GH16I066749 66749802 66752487 2.18 [{'connected_gene': 'LOC106699570', 'score': 550.77}, {'connected_gene': 'DYNC1LI2', 'score': 550.77}, {'connected_gene': 'CES2', 'score': 10.66}, {'connected_gene': 'TERB1', 'score': 8.57}, {'connected_gene': 'CMTM3', 'score': 7.39}, {'connected_gene': 'NAE1', 'score': 6.89}, {'connected_gene': 'ENSG00000260558', 'score': 0.39}]
chr16 GH16I066399 66399215 66400804 0.66 [{'connected_gene': 'LINC00920', 'score': 35.35}, {'connected_gene': 'CDH5', 'score': 13.5}, {'connected_gene': 'BEAN1', 'score': 12.23}, {'connected_gene': 'CMTM3', 'score': 11.29}, {'connected_gene': 'DYNC1LI2', 'score': 9.99}, {'connected_gene': 'LOC106699570', 'score': 9.99}, {'connected_gene': 'GC16M066396', 'score': 0.39}, {'connected_gene': 'GC16P066378', 'score': 0.34}]
chr16 GH16I066406 66406025 66410115 1.59 [{'connected_gene': 'LINC00920', 'score': 595.43}, {'connected_gene': 'CDH5', 'score': 11.96}, {'connected_gene': 'CMTM2', 'score': 10.69}, {'connected_gene': 'CMTM4', 'score': 9.79}, {'connected_gene': 'DYNC1LI2', 'score': 9.55}, {'connected_gene': 'LOC106699570', 'score': 9.55}, {'connected_gene': 'CA7', 'score': 9.3}, {'connected_gene': 'RRAD', 'score': 5.48}, {'connected_gene': 'CMTM3', 'score': 1.62}, {'connected_gene': 'GC16M066396', 'score': 0.77}, {'connected_gene': 'GC16P066378', 'score': 0.31}]
chr16 GH16I066675 66675452 66675471 0.26 [{'connected_gene': 'GC16M066667', 'score': 550.77}, {'connected_gene': 'DYNC1LI2', 'score': 2.52}, {'connected_gene': 'CMTM4', 'score': 0.34}]
chr16 GH16I066729 66728218 66728447 0.79 [{'connected_gene': 'ENSG00000260558', 'score': 0.44}, {'connected_gene': 'ENSG00000260465', 'score': 0.44}, {'connected_gene': 'DYNC1LI2', 'score': 0.34}]
chr16 GH16I066735 66735952 66738410 0.38 [{'connected_gene': 'ENSG00000260558', 'score': 550.77}, {'connected_gene': 'CMTM4', 'score': 11.33}, {'connected_gene': 'CA7', 'score': 10.71}, {'connected_gene': 'TERB1', 'score': 9.29}, {'connected_gene': 'BEAN1', 'score': 9.23}, {'connected_gene': 'CMTM3', 'score': 8.19}, {'connected_gene': 'DYNC1LI2', 'score': 0.39}, {'connected_gene': 'ENSG00000260465', 'score': 0.37}]
chr16 GH16I066743 66743547 66744217 0.2 [{'connected_gene': 'ENSG00000260558', 'score': 0.44}, {'connected_gene': 'LOC106699570', 'score': 0.44}, {'connected_gene': 'DYNC1LI2', 'score': 0.44}]

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