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
ENST00000439458 [[210636716, 210636888], [210637817, 210637866], [210640612, 210640769], [210641981, 210642283], [210650789, 210650913], [210654255, 210654329], [210658443, 210658583], [210678303, 210678565], [210679980, 210680115], [210681632, 210681849], [210682535, 210682676], [210683716, 210683985], [210685034, 210685403], [210690630, 210690777], [210693955, 210694103], [210696166, 210696315], [210698725, 210698892], [210699635, 210699734], [210703945, 210704160], [210705265, 210705372], [210707073, 210707170], [210714174, 210714347], [210737481, 210737694], [210742677, 210742813], [210745684, 210745818], [210752818, 210752984], [210761036, 210761137], [210769488, 210769689], [210777283, 210777391], [210778525, 210778664], [210782500, 210782682], [210783255, 210783387], [210786223, 210786410], [210786975, 210787107], [210791566, 210791710], [210794594, 210794695], [210795691, 210795778], [210798545, 210798729], [210800437, 210800532], [210801567, 210801657], [210802252, 210802354], [210804195, 210804376], [210805944, 210806213], [210808103, 210808238], [210809774, 210809913], [210810570, 210810667], [210818823, 210818994], [210822367, 210822460], [210823842, 210823878], [210824212, 210824431], [210832160, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847041], [210849579, 210849636], [210856889, 210856971], [210858038, 210858150], [210858788, 210858988], [210860052, 210864024]] [[210636796, 210636888], [210637817, 210637866], [210640612, 210640769], [210641981, 210642283], [210650789, 210650913], [210654255, 210654329], [210658443, 210658583], [210678303, 210678565], [210679980, 210680115], [210681632, 210681849], [210682535, 210682676], [210683716, 210683985], [210685034, 210685403], [210690630, 210690777], [210693955, 210694103], [210696166, 210696315], [210698725, 210698892], [210699635, 210699734], [210703945, 210704160], [210705265, 210705372], [210707073, 210707170], [210714174, 210714347], [210737481, 210737694], [210742677, 210742813], [210745684, 210745818], [210752818, 210752984], [210761036, 210761137], [210769488, 210769689], [210777283, 210777391], [210778525, 210778664], [210782500, 210782682], [210783255, 210783387], [210786223, 210786410], [210786975, 210787107], [210791566, 210791710], [210794594, 210794695], [210795691, 210795778], [210798545, 210798729], [210800437, 210800532], [210801567, 210801657], [210802252, 210802354], [210804195, 210804376], [210805944, 210806213], [210808103, 210808238], [210809774, 210809913], [210810570, 210810667], [210818823, 210818994], [210822367, 210822460], [210823842, 210823878], [210824212, 210824431], [210832160, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847041], [210849579, 210849636], [210856889, 210856971], [210858038, 210858150], [210858788, 210858988], [210860052, 210860319]]
ENST00000272845 [[210636762, 210636888], [210637817, 210637866], [210640612, 210640769], [210641981, 210642283], [210650789, 210650913], [210654255, 210654329], [210658443, 210658583], [210678303, 210678565], [210679980, 210680115], [210681632, 210681849], [210682535, 210682676], [210683716, 210683985], [210685034, 210685403], [210690630, 210690762], [210693955, 210694103], [210696166, 210696315], [210698725, 210698892], [210699635, 210699734], [210703945, 210704160], [210705265, 210705372], [210707073, 210707170], [210714174, 210714347], [210737481, 210737694], [210742677, 210742813], [210745684, 210745818], [210752818, 210752984], [210761036, 210761137], [210769488, 210769689], [210777283, 210777391], [210778525, 210778664], [210782500, 210782682], [210783255, 210783387], [210786223, 210786410], [210786975, 210787107], [210791566, 210791710], [210794594, 210794695], [210795691, 210795778], [210798545, 210798729], [210800437, 210800532], [210801567, 210801657], [210802252, 210802354], [210804195, 210804376], [210805944, 210806213], [210808103, 210808238], [210809774, 210809913], [210810570, 210810667], [210818823, 210818994], [210822367, 210822460], [210823842, 210823878], [210824212, 210824431], [210832160, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847041], [210856889, 210856971], [210858038, 210858150], [210858788, 210858988], [210860052, 210864020]] [[210636796, 210636888], [210637817, 210637866], [210640612, 210640769], [210641981, 210642283], [210650789, 210650913], [210654255, 210654329], [210658443, 210658583], [210678303, 210678565], [210679980, 210680115], [210681632, 210681849], [210682535, 210682676], [210683716, 210683985], [210685034, 210685403], [210690630, 210690762], [210693955, 210694103], [210696166, 210696315], [210698725, 210698892], [210699635, 210699734], [210703945, 210704160], [210705265, 210705372], [210707073, 210707170], [210714174, 210714347], [210737481, 210737694], [210742677, 210742813], [210745684, 210745818], [210752818, 210752984], [210761036, 210761137], [210769488, 210769689], [210777283, 210777391], [210778525, 210778664], [210782500, 210782682], [210783255, 210783387], [210786223, 210786410], [210786975, 210787107], [210791566, 210791710], [210794594, 210794695], [210795691, 210795778], [210798545, 210798729], [210800437, 210800532], [210801567, 210801657], [210802252, 210802354], [210804195, 210804376], [210805944, 210806213], [210808103, 210808238], [210809774, 210809913], [210810570, 210810667], [210818823, 210818994], [210822367, 210822460], [210823842, 210823878], [210824212, 210824431], [210832160, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847041], [210856889, 210856971], [210858038, 210858150], [210858788, 210858988], [210860052, 210860319]]
ENST00000489023 [[210693952, 210694103], [210696166, 210696315], [210698725, 210698892], [210699635, 210699734], [210703945, 210704160], [210705265, 210705372], [210707073, 210707170], [210714174, 210714347], [210737481, 210737694], [210742677, 210742813], [210745684, 210745818], [210752818, 210752984], [210761036, 210761137], [210769488, 210769689], [210777283, 210777391], [210778525, 210778664], [210782500, 210782682], [210783255, 210783387], [210786223, 210786410], [210786975, 210787107], [210791566, 210791710], [210794594, 210794695], [210795691, 210795778], [210798545, 210798729], [210800437, 210800532], [210801567, 210801657], [210802252, 210802354], [210804195, 210804376], [210805944, 210806213], [210808103, 210808238], [210809774, 210809913], [210810570, 210810667], [210818823, 210818994], [210822367, 210822460], [210823842, 210823878], [210824212, 210824431], [210832160, 210835038]] None
ENST00000478701 [[210636716, 210636888], [210637817, 210637866], [210640612, 210640769], [210641981, 210642283], [210650789, 210650913], [210654255, 210654329], [210658443, 210658583], [210659518, 210661271]] None
ENST00000477301 [[210709828, 210709958], [210714174, 210714347], [210733828, 210733958], [210737481, 210737598]] None
ENST00000481494 [[210816189, 210816298], [210818823, 210818994], [210819108, 210819155], [210822367, 210822460], [210823842, 210823878], [210824212, 210824282]] None
ENST00000333907 [[210824246, 210824431], [210832160, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847657]] [[210824246, 210824431], [210832160, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847045]]
ENST00000477924 [[210825654, 210825750], [210825889, 210826148], [210832160, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847041], [210856889, 210856971], [210858038, 210858150], [210858788, 210858988], [210860052, 210860537]] None
ENST00000539183 [[210826021, 210826148], [210832160, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847495]] [[210832215, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847045]]
NM_182587 [[210636716, 210636888], [210637817, 210637866], [210640612, 210640769], [210641981, 210642283], [210650789, 210650913], [210654255, 210654329], [210658443, 210658583], [210678303, 210678565], [210679980, 210680115], [210681632, 210681849], [210682535, 210682676], [210683716, 210683985], [210685034, 210685403], [210690630, 210690762], [210693955, 210694103], [210696166, 210696315], [210698725, 210698892], [210699635, 210699734], [210703945, 210704160], [210705265, 210705372], [210707073, 210707170], [210714174, 210714347], [210737481, 210737694], [210742677, 210742813], [210745684, 210745818], [210752818, 210752984], [210761036, 210761137], [210769488, 210769689], [210777283, 210777391], [210778525, 210778664], [210782500, 210782682], [210783255, 210783387], [210786223, 210786410], [210786975, 210787107], [210791566, 210791710], [210794594, 210794695], [210795691, 210795778], [210798545, 210798729], [210800437, 210800532], [210801567, 210801657], [210802252, 210802354], [210804195, 210804376], [210805944, 210806213], [210808103, 210808238], [210809774, 210809913], [210810570, 210810667], [210818823, 210818994], [210822367, 210822460], [210823842, 210823878], [210824212, 210824431], [210832160, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847041], [210856889, 210856971], [210858038, 210858150], [210858788, 210858988], [210860052, 210864024]] [[210636796, 210636888], [210637817, 210637866], [210640612, 210640769], [210641981, 210642283], [210650789, 210650913], [210654255, 210654329], [210658443, 210658583], [210678303, 210678565], [210679980, 210680115], [210681632, 210681849], [210682535, 210682676], [210683716, 210683985], [210685034, 210685403], [210690630, 210690762], [210693955, 210694103], [210696166, 210696315], [210698725, 210698892], [210699635, 210699734], [210703945, 210704160], [210705265, 210705372], [210707073, 210707170], [210714174, 210714347], [210737481, 210737694], [210742677, 210742813], [210745684, 210745818], [210752818, 210752984], [210761036, 210761137], [210769488, 210769689], [210777283, 210777391], [210778525, 210778664], [210782500, 210782682], [210783255, 210783387], [210786223, 210786410], [210786975, 210787107], [210791566, 210791710], [210794594, 210794695], [210795691, 210795778], [210798545, 210798729], [210800437, 210800532], [210801567, 210801657], [210802252, 210802354], [210804195, 210804376], [210805944, 210806213], [210808103, 210808238], [210809774, 210809913], [210810570, 210810667], [210818823, 210818994], [210822367, 210822460], [210823842, 210823878], [210824212, 210824431], [210832160, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847041], [210856889, 210856971], [210858038, 210858150], [210858788, 210858988], [210860052, 210860319]]
NM_032504 [[210636716, 210636888], [210637817, 210637866], [210640612, 210640769], [210641981, 210642283], [210650789, 210650913], [210654255, 210654329], [210658443, 210658583], [210678303, 210678565], [210679980, 210680115], [210681632, 210681849], [210682535, 210682676], [210683716, 210683985], [210685034, 210685403], [210690630, 210690777], [210693955, 210694103], [210696166, 210696315], [210698725, 210698892], [210699635, 210699734], [210703945, 210704160], [210705265, 210705372], [210707073, 210707170], [210714174, 210714347], [210737481, 210737694], [210742677, 210742813], [210745684, 210745818], [210752818, 210752984], [210761036, 210761137], [210769488, 210769689], [210777283, 210777391], [210778525, 210778664], [210782500, 210782682], [210783255, 210783387], [210786223, 210786410], [210786975, 210787107], [210791566, 210791710], [210794594, 210794695], [210795691, 210795778], [210798545, 210798729], [210800437, 210800532], [210801567, 210801657], [210802252, 210802354], [210804195, 210804376], [210805944, 210806213], [210808103, 210808238], [210809774, 210809913], [210810570, 210810667], [210818823, 210818994], [210822367, 210822460], [210823842, 210823878], [210824212, 210824431], [210832160, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847041], [210849579, 210849636], [210856889, 210856971], [210858038, 210858150], [210858788, 210858988], [210860052, 210864024]] [[210636796, 210636888], [210637817, 210637866], [210640612, 210640769], [210641981, 210642283], [210650789, 210650913], [210654255, 210654329], [210658443, 210658583], [210678303, 210678565], [210679980, 210680115], [210681632, 210681849], [210682535, 210682676], [210683716, 210683985], [210685034, 210685403], [210690630, 210690777], [210693955, 210694103], [210696166, 210696315], [210698725, 210698892], [210699635, 210699734], [210703945, 210704160], [210705265, 210705372], [210707073, 210707170], [210714174, 210714347], [210737481, 210737694], [210742677, 210742813], [210745684, 210745818], [210752818, 210752984], [210761036, 210761137], [210769488, 210769689], [210777283, 210777391], [210778525, 210778664], [210782500, 210782682], [210783255, 210783387], [210786223, 210786410], [210786975, 210787107], [210791566, 210791710], [210794594, 210794695], [210795691, 210795778], [210798545, 210798729], [210800437, 210800532], [210801567, 210801657], [210802252, 210802354], [210804195, 210804376], [210805944, 210806213], [210808103, 210808238], [210809774, 210809913], [210810570, 210810667], [210818823, 210818994], [210822367, 210822460], [210823842, 210823878], [210824212, 210824431], [210832160, 210832361], [210834491, 210834615], [210835555, 210835681], [210836924, 210837048], [210837787, 210837994], [210840842, 210841027], [210841636, 210841802], [210843252, 210843432], [210846902, 210847041], [210849579, 210849636], [210856889, 210856971], [210858038, 210858150], [210858788, 210858988], [210860052, 210860319]]
Promoter
Chrom Start End Description
chr2 210636266 210636306 CAGE_peak_4_at_UNC80_5end
chr2 210636313 210636335 CAGE_peak_3_at_UNC80_5end
chr2 210636549 210636603 CAGE_peak_2_at_UNC80_5end
chr2 210636642 210636655 CAGE_peak_7_at_UNC80_5end
chr2 210636664 210636678 CAGE_peak_6_at_UNC80_5end
chr2 210636697 210636762 CAGE_peak_1_at_UNC80_5end
chr2 210636766 210636780 CAGE_peak_5_at_UNC80_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I209943 209943401 209943600 0.31 [{'connected_gene': 'RPE', 'score': 0.22}, {'connected_gene': 'GC02M209861', 'score': 0.19}, {'connected_gene': 'UNC80', 'score': 0.09}]
chr2 GH02I209985 209985601 209986400 0.38 [{'connected_gene': 'RPE', 'score': 0.37}, {'connected_gene': 'GC02M209962', 'score': 0.29}, {'connected_gene': 'GC02M209861', 'score': 0.14}, {'connected_gene': 'UNC80', 'score': 0.08}]
chr2 GH02I209938 209938997 209939146 0.2 [{'connected_gene': 'RPE', 'score': 0.21}, {'connected_gene': 'GC02M209861', 'score': 0.2}, {'connected_gene': 'UNC80', 'score': 0.1}]
chr2 GH02I209960 209960052 209961373 0.62 [{'connected_gene': 'ACADL', 'score': 9.86}, {'connected_gene': 'RPE', 'score': 0.26}, {'connected_gene': 'GC02M209861', 'score': 0.17}, {'connected_gene': 'UNC80', 'score': 0.09}]
chr2 GH02I209988 209988201 209988400 0.75 [{'connected_gene': 'ACADL', 'score': 10.46}, {'connected_gene': 'RPE', 'score': 0.39}, {'connected_gene': 'GC02M209962', 'score': 0.29}, {'connected_gene': 'GC02M209861', 'score': 0.13}, {'connected_gene': 'UNC80', 'score': 0.08}]
chr2 GH02I209771 209771401 209772201 1.94 [{'connected_gene': 'UNC80', 'score': 555.39}, {'connected_gene': 'RNA5SP118', 'score': 0.25}]
chr2 GH02I209682 209682700 209683096 0.35 [{'connected_gene': 'MAP2', 'score': 4.31}, {'connected_gene': 'UNC80', 'score': 1.6}, {'connected_gene': 'GC02P209686', 'score': 0.77}, {'connected_gene': 'GC02P209534', 'score': 0.11}]
chr2 GH02I209430 209430647 209432848 0.31 [{'connected_gene': 'MAP2', 'score': 6.77}, {'connected_gene': 'UNC80', 'score': 5.19}, {'connected_gene': 'GC02M209529', 'score': 0.15}]
chr2 GH02I209817 209817546 209818568 0.38 [{'connected_gene': 'SNAI1P1', 'score': 0.44}, {'connected_gene': 'UNC80', 'score': 0.25}, {'connected_gene': 'GC02M209861', 'score': 0.23}]
chr2 GH02I209933 209933485 209934897 0.51 [{'connected_gene': 'LOC101928020', 'score': 4.48}, {'connected_gene': 'GC02M209861', 'score': 0.21}, {'connected_gene': 'RPE', 'score': 0.2}, {'connected_gene': 'UNC80', 'score': 0.1}]
chr2 GH02I209726 209726047 209726939 0.2 [{'connected_gene': 'RNA5SP118', 'score': 0.77}, {'connected_gene': 'UNC80', 'score': 0.25}, {'connected_gene': 'MAP2', 'score': 0.06}]
chr2 GH02I209872 209872757 209872926 0.59 [{'connected_gene': 'GC02M209861', 'score': 550.77}, {'connected_gene': 'UNC80', 'score': 0.15}, {'connected_gene': 'RPE', 'score': 0.13}]
chr2 GH02I209790 209790002 209790399 0.31 [{'connected_gene': 'GC02P209775', 'score': 0.39}, {'connected_gene': 'SNAI1P1', 'score': 0.37}, {'connected_gene': 'UNC80', 'score': 0.37}]

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