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
ENST00000368972 [[109169618, 109169749], [109175427, 109175688], [109190026, 109190198], [109197345, 109197553], [109215669, 109215746], [109220896, 109220995], [109225432, 109225608], [109232101, 109232204], [109233537, 109233761], [109249290, 109249436], [109258102, 109258202], [109274235, 109274554], [109282774, 109282897], [109283216, 109283330], [109285382, 109285515], [109286182, 109286343], [109294559, 109294985]] [[109197377, 109197553], [109215669, 109215746], [109220896, 109220995], [109225432, 109225608], [109232101, 109232204], [109233537, 109233761], [109249290, 109249436], [109258102, 109258202], [109274235, 109274554], [109282774, 109282897], [109283216, 109283330], [109285382, 109285515], [109286182, 109286343], [109294559, 109294717]]
ENST00000392644 [[109169624, 109169749], [109175427, 109175688], [109179401, 109179474], [109190026, 109190198], [109197345, 109197553], [109215669, 109215746], [109220896, 109220995], [109225432, 109225608], [109232101, 109232204], [109233537, 109233761], [109249290, 109249436], [109258102, 109258202], [109274235, 109274554], [109282774, 109282897], [109283216, 109283330], [109285382, 109285515], [109286182, 109286343], [109294559, 109295186]] [[109175470, 109175688], [109179401, 109179474], [109190026, 109190198], [109197345, 109197553], [109215669, 109215746], [109220896, 109220995], [109225432, 109225608], [109232101, 109232204], [109233537, 109233761], [109249290, 109249436], [109258102, 109258202], [109274235, 109274554], [109282774, 109282897], [109283216, 109283330], [109285382, 109285515], [109286182, 109286343], [109294559, 109294717]]
ENST00000237512 [[109169899, 109170024], [109175427, 109175688], [109179401, 109179474], [109190026, 109190198], [109197345, 109197550]] [[109175470, 109175688], [109179401, 109179474], [109190026, 109190198], [109197345, 109197550]]
ENST00000414610 [[109190180, 109190198], [109197345, 109197553], [109201130, 109201459]] [[109190180, 109190198], [109197345, 109197553], [109201130, 109201161]]
ENST00000481850 [[109280662, 109280722], [109282774, 109282897], [109283216, 109283330], [109285382, 109285515], [109286182, 109286320]] None
NM_001286609 [[109169618, 109169749], [109175427, 109175688], [109190026, 109190198], [109197345, 109197553], [109215669, 109215746], [109220896, 109220995], [109225432, 109225608], [109232101, 109232204], [109233537, 109233761], [109249290, 109249436], [109258102, 109258202], [109274235, 109274554], [109282774, 109282897], [109283216, 109283330], [109285382, 109285515], [109286182, 109286343], [109294559, 109295675]] [[109197377, 109197553], [109215669, 109215746], [109220896, 109220995], [109225432, 109225608], [109232101, 109232204], [109233537, 109233761], [109249290, 109249436], [109258102, 109258202], [109274235, 109274554], [109282774, 109282897], [109283216, 109283330], [109285382, 109285515], [109286182, 109286343], [109294559, 109294717]]
NM_032131 [[109169618, 109169749], [109175427, 109175688], [109179401, 109179474], [109190026, 109190198], [109197345, 109197553], [109215669, 109215746], [109220896, 109220995], [109225432, 109225608], [109232101, 109232204], [109233537, 109233761], [109249290, 109249436], [109258102, 109258202], [109274235, 109274554], [109282774, 109282897], [109283216, 109283330], [109285382, 109285515], [109286182, 109286343], [109294559, 109295675]] [[109175470, 109175688], [109179401, 109179474], [109190026, 109190198], [109197345, 109197553], [109215669, 109215746], [109220896, 109220995], [109225432, 109225608], [109232101, 109232204], [109233537, 109233761], [109249290, 109249436], [109258102, 109258202], [109274235, 109274554], [109282774, 109282897], [109283216, 109283330], [109285382, 109285515], [109286182, 109286343], [109294559, 109294717]]
Promoter
Chrom Start End Description
chr6 109169591 109169660 CAGE_peak_1_at_ARMC2_5end
chr6 109169666 109169677 CAGE_peak_2_at_ARMC2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I108876 108876599 108878556 0.63 [{'connected_gene': 'ARMC2', 'score': 12.15}, {'connected_gene': 'RNU6-653P', 'score': 10.92}, {'connected_gene': 'ZBTB24', 'score': 8.9}, {'connected_gene': 'RPS12P13', 'score': 0.34}, {'connected_gene': 'ATP5MFP2', 'score': 0.31}]
chr6 GH06I108903 108903754 108906921 1.01 [{'connected_gene': 'ARMC2', 'score': 24.76}, {'connected_gene': 'RNU6-653P', 'score': 10.95}, {'connected_gene': 'ATP5MFP2', 'score': 0.77}, {'connected_gene': 'RPS12P13', 'score': 0.25}]
chr6 GH06I108805 108805669 108806400 0.79 [{'connected_gene': 'ARMC2', 'score': 12.16}, {'connected_gene': 'RNU6-653P', 'score': 10.17}, {'connected_gene': 'FOXO3', 'score': 1.61}, {'connected_gene': 'RPL37AP3', 'score': 0.39}, {'connected_gene': 'ZNF259P1', 'score': 0.37}]
chr6 GH06I108871 108871638 108875773 1.34 [{'connected_gene': 'ARMC2', 'score': 26.64}, {'connected_gene': 'RNU6-653P', 'score': 10.92}, {'connected_gene': 'ARMC2-AS1', 'score': 10.45}, {'connected_gene': 'ZBTB24', 'score': 8.9}, {'connected_gene': 'SESN1', 'score': 2.05}, {'connected_gene': 'RPS12P13', 'score': 0.37}, {'connected_gene': 'ATP5MFP2', 'score': 0.29}]
chr6 GH06I108893 108893400 108894000 0.84 [{'connected_gene': 'ARMC2', 'score': 11.83}, {'connected_gene': 'RNU6-653P', 'score': 11.36}, {'connected_gene': 'ARMC2-AS1', 'score': 10.58}, {'connected_gene': 'ATP5MFP2', 'score': 0.39}, {'connected_gene': 'RPS12P13', 'score': 0.28}]
chr6 GH06I108541 108541801 108542469 1.26 [{'connected_gene': 'ARMC2', 'score': 10.83}, {'connected_gene': 'RNU6-653P', 'score': 10.32}, {'connected_gene': 'ARMC2-AS1', 'score': 9.6}, {'connected_gene': 'SEC63', 'score': 9.57}, {'connected_gene': 'OSTM1', 'score': 9.46}, {'connected_gene': 'NR2E1', 'score': 9.46}, {'connected_gene': 'ENSG00000271608', 'score': 0.44}, {'connected_gene': 'GC06P108423', 'score': 0.13}, {'connected_gene': 'GC06P108424', 'score': 0.13}]
chr6 GH06I108895 108895141 108897799 1.49 [{'connected_gene': 'ARMC2', 'score': 26.59}, {'connected_gene': 'RNU6-653P', 'score': 11.36}, {'connected_gene': 'ARMC2-AS1', 'score': 11.32}, {'connected_gene': 'OSTM1-AS1', 'score': 4.65}, {'connected_gene': 'FOXO3', 'score': 2.78}, {'connected_gene': 'CD164', 'score': 1.59}, {'connected_gene': 'ATP5MFP2', 'score': 0.39}, {'connected_gene': 'RPS12P13', 'score': 0.28}]
chr6 GH06I108884 108884391 108884774 0.68 [{'connected_gene': 'ARMC2', 'score': 12.04}, {'connected_gene': 'ARMC2-AS1', 'score': 10.97}, {'connected_gene': 'ATP5MFP2', 'score': 0.34}, {'connected_gene': 'RPS12P13', 'score': 0.31}]
chr6 GH06I108781 108781478 108783241 1.13 [{'connected_gene': 'ARMC2', 'score': 14.98}, {'connected_gene': 'ARMC2-AS1', 'score': 9.4}, {'connected_gene': 'CCDC162P', 'score': 5.34}, {'connected_gene': 'ZNF259P1', 'score': 0.77}, {'connected_gene': 'LINC00222', 'score': 0.29}]
chr6 GH06I108901 108901659 108903199 0.83 [{'connected_gene': 'ARMC2', 'score': 15.78}, {'connected_gene': 'ARMC2-AS1', 'score': 11.56}, {'connected_gene': 'RNU6-653P', 'score': 10.95}, {'connected_gene': 'ATP5MFP2', 'score': 0.44}, {'connected_gene': 'RPS12P13', 'score': 0.25}]
chr6 GH06I108920 108920336 108921448 0.43 [{'connected_gene': 'ARMC2', 'score': 13.9}, {'connected_gene': 'ARMC2-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000228834', 'score': 0.39}]
chr6 GH06I108868 108868411 108869106 0.2 [{'connected_gene': 'ARMC2', 'score': 14.94}, {'connected_gene': 'RPS12P13', 'score': 0.39}, {'connected_gene': 'ATP5MFP2', 'score': 0.28}]
chr6 GH06I108847 108847713 108849297 1.98 [{'connected_gene': 'ARMC2', 'score': 559.36}, {'connected_gene': 'ENSG00000271730', 'score': 11.77}, {'connected_gene': 'RPS12P13', 'score': 0.44}]
chr6 GH06I108850 108850002 108851599 1.39 [{'connected_gene': 'ARMC2', 'score': 565.46}, {'connected_gene': 'RPS12P13', 'score': 0.44}]
chr6 GH06I108941 108941940 108949231 1.21 [{'connected_gene': 'SMPD2', 'score': 15.37}, {'connected_gene': 'ARMC2-AS1', 'score': 12.03}, {'connected_gene': 'ZBTB24', 'score': 11.95}, {'connected_gene': 'RNU6-653P', 'score': 11.44}, {'connected_gene': 'LOC105377929', 'score': 10.38}, {'connected_gene': 'ARMC2', 'score': 9.46}, {'connected_gene': 'AFG1L', 'score': 5.1}, {'connected_gene': 'PIR34191', 'score': 0.34}]
chr6 GH06I108831 108831238 108831387 0.38 [{'connected_gene': 'RNU6-653P', 'score': 10.78}, {'connected_gene': 'ARMC2', 'score': 4.96}, {'connected_gene': 'RPL37AP3', 'score': 0.39}]
chr6 GH06I108835 108835201 108835601 1.07 [{'connected_gene': 'RNU6-653P', 'score': 9.79}, {'connected_gene': 'ARMC2', 'score': 0.39}, {'connected_gene': 'RPL37AP3', 'score': 0.37}]
chr6 GH06I109035 109035941 109037356 0.63 [{'connected_gene': 'RNU6-653P', 'score': 13.02}, {'connected_gene': 'ARMC2-AS1', 'score': 10.65}, {'connected_gene': 'ARMC2', 'score': 9.9}, {'connected_gene': 'ENSG00000271730', 'score': 6.07}, {'connected_gene': 'GC06M109060', 'score': 0.34}, {'connected_gene': 'GC06P109009', 'score': 0.31}, {'connected_gene': 'SESN1', 'score': 0.22}]
chr6 GH06I108837 108837158 108838800 1.02 [{'connected_gene': 'RNU6-653P', 'score': 10.17}, {'connected_gene': 'ARMC2-AS1', 'score': 9.87}, {'connected_gene': 'ARMC2', 'score': 4.66}, {'connected_gene': 'RPL37AP3', 'score': 0.34}]
chr6 GH06I108966 108966541 108966547 0.2 [{'connected_gene': 'RNU6-653P', 'score': 10.88}, {'connected_gene': 'ARMC2-AS1', 'score': 10.6}, {'connected_gene': 'PIR34191', 'score': 0.77}, {'connected_gene': 'ARMC2', 'score': 0.13}]
chr6 GH06I108989 108989546 108990691 0.67 [{'connected_gene': 'RNU6-653P', 'score': 10.89}, {'connected_gene': 'ARMC2-AS1', 'score': 10.5}, {'connected_gene': 'PIR36369', 'score': 0.44}, {'connected_gene': 'ENSG00000271730', 'score': 0.44}, {'connected_gene': 'GC06P108981', 'score': 0.44}, {'connected_gene': 'SESN1', 'score': 0.15}, {'connected_gene': 'ARMC2', 'score': 0.11}]
chr6 GH06I108987 108987677 108989389 0.2 [{'connected_gene': 'RNU6-653P', 'score': 10.87}, {'connected_gene': 'ARMC2-AS1', 'score': 10.5}, {'connected_gene': 'ENSG00000271730', 'score': 6.19}, {'connected_gene': 'PIR36369', 'score': 0.44}, {'connected_gene': 'GC06P108981', 'score': 0.44}, {'connected_gene': 'SESN1', 'score': 0.14}, {'connected_gene': 'ARMC2', 'score': 0.11}]
chr6 GH06I108970 108970897 108972417 0.91 [{'connected_gene': 'RNU6-653P', 'score': 11.7}, {'connected_gene': 'ARMC2-AS1', 'score': 10.81}, {'connected_gene': 'AK9', 'score': 4.22}, {'connected_gene': 'PIR34191', 'score': 0.77}, {'connected_gene': 'PIR36369', 'score': 0.44}, {'connected_gene': 'GC06P108981', 'score': 0.44}, {'connected_gene': 'ARMC2', 'score': 0.13}]
chr6 GH06I108407 108407029 108407171 0.27 [{'connected_gene': 'LOC105377932', 'score': 550.77}, {'connected_gene': 'ARMC2', 'score': 1.75}, {'connected_gene': 'RNU6-770P', 'score': 0.37}, {'connected_gene': 'AFG1L', 'score': 0.14}]
chr6 GH06I108840 108840939 108842173 0.8 [{'connected_gene': 'ARMC2-AS1', 'score': 9.88}, {'connected_gene': 'ARMC2', 'score': 0.44}, {'connected_gene': 'RPL37AP3', 'score': 0.34}]
chr6 GH06I108921 108921600 108921827 0.72 [{'connected_gene': 'ARMC2-AS1', 'score': 0.77}, {'connected_gene': 'ENSG00000228834', 'score': 0.39}, {'connected_gene': 'ARMC2', 'score': 0.19}]
chr6 GH06I108925 108925211 108925246 0.22 [{'connected_gene': 'ARMC2-AS1', 'score': 550.77}, {'connected_gene': 'PIR34191', 'score': 0.26}, {'connected_gene': 'ARMC2', 'score': 0.18}]
chr6 GH06I108962 108962058 108962207 0.2 [{'connected_gene': 'ARMC2-AS1', 'score': 11.95}, {'connected_gene': 'PIR34191', 'score': 0.44}, {'connected_gene': 'ARMC2', 'score': 0.14}]
chr6 GH06I108862 108862611 108863237 0.65 [{'connected_gene': 'RPS12P13', 'score': 0.44}, {'connected_gene': 'ARMC2', 'score': 0.39}, {'connected_gene': 'ATP5MFP2', 'score': 0.26}]
chr6 GH06I108865 108865116 108867584 0.6 [{'connected_gene': 'RPS12P13', 'score': 0.44}, {'connected_gene': 'ARMC2', 'score': 0.37}, {'connected_gene': 'ATP5MFP2', 'score': 0.26}]
chr6 GH06I108967 108966601 108969214 1.32 [{'connected_gene': 'PIR34191', 'score': 550.77}, {'connected_gene': 'RNU6-653P', 'score': 10.88}, {'connected_gene': 'ARMC2-AS1', 'score': 10.6}, {'connected_gene': 'ENSG00000271730', 'score': 6.14}, {'connected_gene': 'AK9', 'score': 4.2}, {'connected_gene': 'FOXO3', 'score': 4.1}, {'connected_gene': 'MICAL1', 'score': 2.05}, {'connected_gene': 'SMPD2', 'score': 1.96}, {'connected_gene': 'ARMC2', 'score': 0.13}]
chr6 GH06I108951 108951601 108951800 0.2 [{'connected_gene': 'PIR34191', 'score': 0.37}, {'connected_gene': 'ARMC2-AS1', 'score': 0.31}, {'connected_gene': 'ARMC2', 'score': 0.15}]
chr6 GH06I108959 108959201 108959400 0.31 [{'connected_gene': 'PIR34191', 'score': 0.44}, {'connected_gene': 'ARMC2-AS1', 'score': 0.28}, {'connected_gene': 'ARMC2', 'score': 0.14}]

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