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
ENST00000477854 [[18749474, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18765389]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18763945]]
ENST00000358540 [[18749474, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765746], [18787353, 18787430], [18793485, 18793618], [18813071, 18813389]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765746], [18787353, 18787430], [18793485, 18793505]]
ENST00000396166 [[18749476, 18750574], [18750999, 18751113], [18751204, 18752291]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751512]]
ENST00000396171 [[18749476, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765746], [18787353, 18787430], [18793485, 18793573], [18813071, 18813389]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765746], [18787353, 18787430], [18793485, 18793505]]
ENST00000396167 [[18749476, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764880], [18765552, 18765746], [18787353, 18787430], [18793485, 18793618], [18813071, 18813389]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764880], [18765552, 18765746], [18787353, 18787430], [18793485, 18793505]]
ENST00000396170 [[18749476, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764880], [18765552, 18765746], [18787353, 18787430], [18793485, 18793573], [18813071, 18814268]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764880], [18765552, 18765746], [18787353, 18787430], [18793485, 18793505]]
ENST00000396168 [[18749478, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765746], [18787353, 18787430], [18813071, 18813187]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765746], [18787353, 18787378]]
ENST00000496201 [[18762314, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765890]] None
NM_006906 [[18749474, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765746], [18787353, 18787430], [18793485, 18793618], [18813071, 18813389]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765746], [18787353, 18787430], [18793485, 18793505]]
NM_001039970 [[18749474, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764880], [18765552, 18765746], [18787353, 18787430], [18793485, 18793618], [18813071, 18813389]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764880], [18765552, 18765746], [18787353, 18787430], [18793485, 18793505]]
NM_032781 [[18749474, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765746], [18787353, 18787430], [18793485, 18793573], [18813071, 18813389]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765746], [18787353, 18787430], [18793485, 18793505]]
NM_001278238 [[18749474, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765746], [18787353, 18787430], [18813071, 18813389]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764976], [18765552, 18765746], [18787353, 18787378]]
NM_001278239 [[18749474, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764880], [18765552, 18765746], [18787353, 18787430], [18813071, 18813389]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764880], [18765552, 18765746], [18787353, 18787378]]
NM_001278236 [[18749474, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764880], [18765552, 18765746], [18787353, 18787430], [18793485, 18793573], [18813071, 18814268]] [[18750480, 18750574], [18750999, 18751113], [18751204, 18751365], [18754138, 18754249], [18754781, 18754919], [18755102, 18755182], [18759426, 18759511], [18762149, 18762339], [18763808, 18764050], [18764538, 18764622], [18764868, 18764880], [18765552, 18765746], [18787353, 18787430], [18793485, 18793505]]
Promoter
Chrom Start End Description
chr11 18754900 18754906 CAGE_peak_13_at_PTPN5_5end
chr11 18765490 18765499 CAGE_peak_16_at_PTPN5_5end
chr11 18765553 18765567 CAGE_peak_7_at_PTPN5_5end
chr11 18765589 18765610 CAGE_peak_6_at_PTPN5_5end
chr11 18765839 18765846 CAGE_peak_10_at_PTPN5_5end
chr11 18765881 18765897 CAGE_peak_3_at_PTPN5_5end
chr11 18813110 18813193 CAGE_peak_1_at_PTPN5_5end
chr11 18813204 18813229 CAGE_peak_4_at_PTPN5_5end
chr11 18813275 18813284 CAGE_peak_9_at_PTPN5_5end
chr11 18813290 18813302 CAGE_peak_8_at_PTPN5_5end
chr11 18813315 18813350 CAGE_peak_2_at_PTPN5_5end
chr11 18813353 18813378 CAGE_peak_5_at_PTPN5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I018771 18771452 18773050 0.38 [{'connected_gene': 'PTPN5', 'score': 20.68}, {'connected_gene': 'LDHA', 'score': 9.59}, {'connected_gene': 'SERGEF', 'score': 9.58}, {'connected_gene': 'PIR60589', 'score': 0.28}]
chr11 GH11I018768 18768296 18769286 0.75 [{'connected_gene': 'PTPN5', 'score': 11.69}, {'connected_gene': 'IGSF22', 'score': 11.07}, {'connected_gene': 'LOC105376579', 'score': 9.83}, {'connected_gene': 'LDHA', 'score': 9.59}, {'connected_gene': 'SERGEF', 'score': 9.58}, {'connected_gene': 'PIR60589', 'score': 0.29}]
chr11 GH11I018760 18760041 18763182 0.43 [{'connected_gene': 'PTPN5', 'score': 11.65}, {'connected_gene': 'IGSF22', 'score': 10.8}, {'connected_gene': 'LOC105376579', 'score': 10.75}, {'connected_gene': 'SAAL1', 'score': 10.56}, {'connected_gene': 'HIGD1AP5', 'score': 10.56}, {'connected_gene': 'PIR60589', 'score': 0.31}]
chr11 GH11I018791 18791232 18792221 1.13 [{'connected_gene': 'PTPN5', 'score': 564.78}, {'connected_gene': 'PIR60589', 'score': 0.22}]
chr11 GH11I018775 18775794 18775923 0.66 [{'connected_gene': 'PTPN5', 'score': 0.37}, {'connected_gene': 'PIR60589', 'score': 0.26}]
chr11 GH11I018790 18790995 18791103 0.31 [{'connected_gene': 'PTPN5', 'score': 550.77}, {'connected_gene': 'PIR60589', 'score': 0.22}]
chr11 GH11I018802 18802754 18802883 0.78 [{'connected_gene': 'PTPN5', 'score': 0.39}, {'connected_gene': 'GC11P018827', 'score': 0.34}]
chr11 GH11I018819 18819982 18821500 0.38 [{'connected_gene': 'LOC645397', 'score': 11.76}, {'connected_gene': 'PTPN5', 'score': 10.73}, {'connected_gene': 'GC11P018827', 'score': 0.44}]
chr11 GH11I019079 19079102 19081476 0.82 [{'connected_gene': 'ZDHHC13', 'score': 18.41}, {'connected_gene': 'PTPN5', 'score': 4.25}, {'connected_gene': 'GC11P019071', 'score': 0.44}]
chr11 GH11I018899 18899630 18901259 0.52 [{'connected_gene': 'LOC441592', 'score': 9.55}, {'connected_gene': 'PTPN5', 'score': 6.74}, {'connected_gene': 'ZDHHC13', 'score': 4.58}, {'connected_gene': 'LOC390099', 'score': 0.39}, {'connected_gene': 'LOC390098', 'score': 0.39}]
chr11 GH11I018769 18769894 18770043 0.75 [{'connected_gene': 'LDHA', 'score': 9.59}, {'connected_gene': 'PTPN5', 'score': 0.34}, {'connected_gene': 'PIR60589', 'score': 0.28}]
chr11 GH11I018763 18763494 18764829 1 [{'connected_gene': 'IGSF22', 'score': 9.83}, {'connected_gene': 'LOC105376579', 'score': 9.78}, {'connected_gene': 'PIR60589', 'score': 0.31}, {'connected_gene': 'PTPN5', 'score': 0.31}]
chr11 GH11I018732 18732074 18732223 0.62 [{'connected_gene': 'LOC105376579', 'score': 11.74}, {'connected_gene': 'LOC100129966', 'score': 10.1}, {'connected_gene': 'SPTY2D1OS', 'score': 10.09}, {'connected_gene': 'PIR60589', 'score': 0.77}, {'connected_gene': 'IGSF22', 'score': 0.44}, {'connected_gene': 'PTPN5', 'score': 0.21}]
chr11 GH11I018741 18741534 18744147 0.43 [{'connected_gene': 'PIR60589', 'score': 0.44}, {'connected_gene': 'PTPN5', 'score': 0.25}]
chr11 GH11I018744 18744522 18745589 0.2 [{'connected_gene': 'PIR60589', 'score': 0.39}, {'connected_gene': 'PTPN5', 'score': 0.25}]
chr11 GH11I018749 18749601 18750408 1.04 [{'connected_gene': 'PIR60589', 'score': 0.37}, {'connected_gene': 'PTPN5', 'score': 0.26}]
chr11 GH11I018748 18748041 18748976 0.52 [{'connected_gene': 'PIR60589', 'score': 0.39}, {'connected_gene': 'PTPN5', 'score': 0.26}]
chr11 GH11I018739 18739114 18741391 0.43 [{'connected_gene': 'PIR60589', 'score': 0.44}, {'connected_gene': 'LOC105376579', 'score': 0.29}, {'connected_gene': 'PTPN5', 'score': 0.23}]