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
ENST00000526313 [[17515441, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565949]] [[17523525, 17523527], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565854]]
ENST00000318024 [[17515441, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17538947, 17539021], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565963]] [[17515910, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17538947, 17539021], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565854]]
ENST00000527020 [[17515446, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17538947, 17539021], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565947]] [[17515910, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17538947, 17539021], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565854]]
ENST00000005226 [[17515878, 17515923], [17517115, 17517224], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17526193, 17526244], [17527376, 17527496], [17530902, 17531385], [17531951, 17532068], [17533448, 17533601], [17537787, 17537837], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565854]] [[17515878, 17515923], [17517115, 17517224], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17526193, 17526244], [17527376, 17527496], [17530902, 17531385], [17531951, 17532068], [17533448, 17533601], [17537787, 17537837], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565854]]
ENST00000527720 [[17515443, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17538947, 17539021], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17555057]] [[17515910, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17538947, 17539021], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554812]]
ENST00000529563 [[17515511, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17538001, 17538169]] None
ENST00000527551 [[17515708, 17515923], [17518304, 17518460]] None
ENST00000534556 [[17522618, 17522697], [17523028, 17523082], [17523485, 17523596]] None
ENST00000530700 [[17535987, 17536173], [17537787, 17537837], [17538947, 17539021], [17542416, 17542509]] None
ENST00000526181 [[17544429, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17555265, 17555421]] [[17544429, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17555265, 17555334]]
NM_005709 [[17515441, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17538947, 17539021], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565963]] [[17515910, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17538947, 17539021], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565854]]
NM_153676 [[17515441, 17515923], [17517115, 17517224], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17526193, 17526244], [17527376, 17527496], [17530902, 17531385], [17531951, 17532068], [17533448, 17533601], [17537787, 17537837], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565963]] [[17515878, 17515923], [17517115, 17517224], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17526193, 17526244], [17527376, 17527496], [17530902, 17531385], [17531951, 17532068], [17533448, 17533601], [17537787, 17537837], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565854]]
NR_123738 [[17515441, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544757, 17544814], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565963]] None
NM_001297764 [[17515441, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17538947, 17539021], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565963]] [[17515910, 17515923], [17518304, 17518360], [17519708, 17519818], [17522597, 17522697], [17523028, 17523082], [17523485, 17523527], [17538947, 17539021], [17542416, 17542541], [17542892, 17542958], [17544330, 17544473], [17544965, 17545025], [17545997, 17546082], [17547893, 17547988], [17548299, 17548357], [17548562, 17548587], [17548769, 17548878], [17552700, 17552839], [17552945, 17553089], [17554801, 17554869], [17565818, 17565854]]
Promoter
Chrom Start End Description
chr11 17538074 17538086 CAGE_peak_7_at_USH1C_5end
chr11 17538091 17538116 CAGE_peak_3_at_USH1C_5end
chr11 17538121 17538141 CAGE_peak_4_at_USH1C_5end
chr11 17538176 17538187 CAGE_peak_5_at_USH1C_5end
chr11 17555398 17555410 CAGE_peak_9_at_USH1C_5end
chr11 17555415 17555420 CAGE_peak_11_at_USH1C_5end
chr11 17555421 17555441 CAGE_peak_6_at_USH1C_5end
chr11 17565907 17565933 CAGE_peak_1_at_USH1C_5end
chr11 17565934 17565939 CAGE_peak_8_at_USH1C_5end
chr11 17565951 17565982 CAGE_peak_2_at_USH1C_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I017476 17476835 17476894 0.82 [{'connected_gene': 'ABCC8', 'score': 550.77}, {'connected_gene': 'USH1C', 'score': 0.2}, {'connected_gene': 'GC11M017461', 'score': 0.09}]
chr11 GH11I017480 17479634 17479803 0.62 [{'connected_gene': 'ABCC8', 'score': 5.2}, {'connected_gene': 'USH1C', 'score': 0.21}, {'connected_gene': 'GC11M017461', 'score': 0.1}]
chr11 GH11I017479 17479954 17480103 0.57 [{'connected_gene': 'ABCC8', 'score': 17.46}, {'connected_gene': 'USH1C', 'score': 0.21}, {'connected_gene': 'GC11M017461', 'score': 0.1}]
chr11 GH11I017504 17504654 17504863 0.63 [{'connected_gene': 'KCNJ11', 'score': 12.85}, {'connected_gene': 'ABCC8', 'score': 11.48}, {'connected_gene': 'USH1C', 'score': 0.28}, {'connected_gene': 'GC11M017461', 'score': 0.11}]
chr11 GH11I017485 17485778 17487238 0.49 [{'connected_gene': 'KCNJ11', 'score': 11.43}, {'connected_gene': 'ABCC8', 'score': 6.09}, {'connected_gene': 'USH1C', 'score': 0.22}, {'connected_gene': 'GC11M017461', 'score': 0.1}]
chr11 GH11I017546 17546857 17548369 1.47 [{'connected_gene': 'OTOG', 'score': 550.77}, {'connected_gene': 'USH1C', 'score': 12.36}, {'connected_gene': 'GC11P017559', 'score': 0.39}, {'connected_gene': 'GC11M017461', 'score': 0.15}]
chr11 GH11I018245 18245626 18247411 0.85 [{'connected_gene': 'RNA5SP333', 'score': 550.77}, {'connected_gene': 'USH1C', 'score': 4.07}, {'connected_gene': 'SAA2-SAA4', 'score': 0.77}, {'connected_gene': 'SAA2', 'score': 0.77}, {'connected_gene': 'GC11M018180', 'score': 0.44}]
chr11 GH11I017519 17519234 17519383 0.2 [{'connected_gene': 'USH1C', 'score': 0.31}, {'connected_gene': 'ABCC8', 'score': 0.26}, {'connected_gene': 'GC11M017461', 'score': 0.13}]
chr11 GH11I017538 17538176 17539925 0.31 [{'connected_gene': 'USH1C', 'score': 15.53}, {'connected_gene': 'ABCC8', 'score': 9.36}, {'connected_gene': 'GC11M017461', 'score': 0.14}]
chr11 GH11I017527 17527208 17529703 0.89 [{'connected_gene': 'USH1C', 'score': 35.05}, {'connected_gene': 'ABCC8', 'score': 0.23}, {'connected_gene': 'GC11M017461', 'score': 0.13}]
chr11 GH11I017529 17529954 17534665 0.89 [{'connected_gene': 'USH1C', 'score': 22.78}, {'connected_gene': 'ABCC8', 'score': 10.21}, {'connected_gene': 'GC11M017461', 'score': 0.13}]
chr11 GH11I017540 17540673 17544848 1.59 [{'connected_gene': 'USH1C', 'score': 573.55}, {'connected_gene': 'SOX6', 'score': 5.63}, {'connected_gene': 'ABCC8', 'score': 0.2}, {'connected_gene': 'GC11M017461', 'score': 0.14}]

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