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
ENST00000553891 [[73436158, 73436464], [73437600, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73459850, 73460065], [73464518, 73465023], [73490733, 73491650], [73493633, 73493814]] [[73436417, 73436464], [73437600, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73459850, 73460065], [73464518, 73465023], [73490733, 73491216]]
ENST00000318876 [[73436159, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444710], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73459850, 73460065], [73464518, 73465023], [73490733, 73491650], [73493633, 73493839]] [[73437589, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444710], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73459850, 73460065], [73464518, 73465023], [73490733, 73491216]]
ENST00000556143 [[73436159, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73459850, 73460065], [73464518, 73465023], [73490733, 73491650], [73493633, 73493920]] [[73437589, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73459850, 73460065], [73464518, 73465023], [73490733, 73491216]]
ENST00000394207 [[73437585, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73453604, 73453652]] [[73437589, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448561]]
ENST00000555072 [[73437589, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73453599, 73453693]] [[73437589, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448561]]
ENST00000556040 [[73437637, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442649]] None
ENST00000556761 [[73440785, 73440901], [73441486, 73441915]] None
ENST00000554145 [[73441535, 73441667], [73442258, 73442429], [73444634, 73444752], [73445568, 73445703]] None
ENST00000554250 [[73444671, 73444752], [73444844, 73444942], [73445568, 73445933]] None
NM_178441 [[73436152, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73453599, 73453664]] [[73437589, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448561]]
NM_001281735 [[73436152, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73453604, 73453664]] [[73437589, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448561]]
NM_021260 [[73436152, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73459850, 73460065], [73464518, 73465023], [73490733, 73491650], [73493633, 73493920]] [[73437589, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444752], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73459850, 73460065], [73464518, 73465023], [73490733, 73491216]]
NM_001281734 [[73436152, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444710], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73459850, 73460065], [73464518, 73465023], [73490733, 73491650], [73493633, 73493920]] [[73437589, 73437822], [73440787, 73440901], [73441486, 73441667], [73442258, 73442429], [73444634, 73444710], [73444844, 73444942], [73445568, 73445677], [73448496, 73448603], [73459850, 73460065], [73464518, 73465023], [73490733, 73491216]]
Promoter
Chrom Start End Description
chr14 73493784 73493822 CAGE_peak_1_at_ZFYVE1_5end
chr14 73493825 73493878 CAGE_peak_2_at_ZFYVE1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I073140 73140277 73141817 0.43 [{'connected_gene': 'PAPLN', 'score': 10.58}, {'connected_gene': 'ZFYVE1', 'score': 9.98}, {'connected_gene': 'PSEN1', 'score': 0.77}, {'connected_gene': 'ENSG00000259109', 'score': 0.25}]
chr14 GH14I073464 73464488 73469912 1.38 [{'connected_gene': 'NUMB', 'score': 38.65}, {'connected_gene': 'PSEN1', 'score': 23.63}, {'connected_gene': 'ACOT1', 'score': 12.1}, {'connected_gene': 'HEATR4', 'score': 6.21}, {'connected_gene': 'LOC101928123', 'score': 5.02}, {'connected_gene': 'ENSG00000258695', 'score': 4.85}, {'connected_gene': 'DCAF4', 'score': 4.7}, {'connected_gene': 'ZNF410', 'score': 4.1}, {'connected_gene': 'ZFYVE1', 'score': 3.21}, {'connected_gene': 'RBM25', 'score': 2.18}, {'connected_gene': 'ELMSAN1', 'score': 2.17}, {'connected_gene': 'GC14M073418', 'score': 0.77}, {'connected_gene': 'ENSG00000251393', 'score': 0.77}, {'connected_gene': 'RIOX1', 'score': 0.34}]
chr14 GH14I073358 73358176 73358440 0.57 [{'connected_gene': 'NUMB', 'score': 6.86}, {'connected_gene': 'PSEN1', 'score': 5.48}, {'connected_gene': 'ZFYVE1', 'score': 1.94}, {'connected_gene': 'RBM25', 'score': 1.81}, {'connected_gene': 'GC14P073395', 'score': 0.28}, {'connected_gene': 'ENSG00000258944', 'score': 0.18}]
chr14 GH14I073007 73007915 73009488 0.56 [{'connected_gene': 'RBM25', 'score': 15.92}, {'connected_gene': 'ELMSAN1', 'score': 12.56}, {'connected_gene': 'DCAF4', 'score': 12.22}, {'connected_gene': 'LOC100420966', 'score': 10.02}, {'connected_gene': 'PSEN1', 'score': 4.92}, {'connected_gene': 'GC14M073010', 'score': 0.44}, {'connected_gene': 'ZFYVE1', 'score': 0.37}, {'connected_gene': 'RPS12P1', 'score': 0.26}]
chr14 GH14I073057 73057146 73060102 2.08 [{'connected_gene': 'RBM25', 'score': 581.03}, {'connected_gene': 'LOC105370560', 'score': 550.77}, {'connected_gene': 'ZNF410', 'score': 30.49}, {'connected_gene': 'ELMSAN1', 'score': 27.93}, {'connected_gene': 'LOC101928123', 'score': 21.36}, {'connected_gene': 'NUMB', 'score': 20.78}, {'connected_gene': 'LOC100420966', 'score': 19.92}, {'connected_gene': 'ZFYVE1', 'score': 11.26}, {'connected_gene': 'PAPLN', 'score': 9.67}, {'connected_gene': 'DCAF4', 'score': 9.26}, {'connected_gene': 'PSEN1', 'score': 8.62}, {'connected_gene': 'ACOT1', 'score': 5.11}]
chr14 GH14I073135 73135818 73138240 1.98 [{'connected_gene': 'PSEN1', 'score': 550.77}, {'connected_gene': 'RBM25', 'score': 39.0}, {'connected_gene': 'ELMSAN1', 'score': 24.43}, {'connected_gene': 'LOC101928123', 'score': 18.13}, {'connected_gene': 'PNMA1', 'score': 16.56}, {'connected_gene': 'ENSG00000258891', 'score': 15.26}, {'connected_gene': 'DNAL1', 'score': 15.16}, {'connected_gene': 'LIN52', 'score': 13.69}, {'connected_gene': 'ZNF410', 'score': 11.99}, {'connected_gene': 'ENSG00000258443', 'score': 11.91}, {'connected_gene': 'PAPLN', 'score': 10.58}, {'connected_gene': 'ENSG00000258695', 'score': 9.8}, {'connected_gene': 'ZFYVE1', 'score': 9.74}, {'connected_gene': 'DCAF4', 'score': 8.76}, {'connected_gene': 'ACOT1', 'score': 3.99}, {'connected_gene': 'ENSG00000259109', 'score': 0.23}]
chr14 GH14I073025 73025784 73028257 2.05 [{'connected_gene': 'ZFYVE1', 'score': 550.77}, {'connected_gene': 'RBM25', 'score': 27.21}, {'connected_gene': 'DCAF4', 'score': 15.74}, {'connected_gene': 'ELMSAN1', 'score': 14.07}, {'connected_gene': 'PSEN1', 'score': 13.13}, {'connected_gene': 'ZNF410', 'score': 9.7}, {'connected_gene': 'LOC101928123', 'score': 7.55}, {'connected_gene': 'GC14P073016', 'score': 0.39}, {'connected_gene': 'LOC105370560', 'score': 0.29}]
chr14 GH14I072986 72986990 72987049 0.68 [{'connected_gene': 'ZFYVE1', 'score': 550.26}, {'connected_gene': 'RPS12P1', 'score': 0.34}, {'connected_gene': 'GC14M073010', 'score': 0.31}]
chr14 GH14I072983 72983352 72983411 0.5 [{'connected_gene': 'ZFYVE1', 'score': 561.14}, {'connected_gene': 'DCAF4', 'score': 7.69}, {'connected_gene': 'RPS12P1', 'score': 0.37}, {'connected_gene': 'GC14M073010', 'score': 0.29}]
chr14 GH14I072924 72924453 72928033 2.03 [{'connected_gene': 'DCAF4', 'score': 586.33}, {'connected_gene': 'LOC100420966', 'score': 26.56}, {'connected_gene': 'ZNF410', 'score': 21.71}, {'connected_gene': 'PSEN1', 'score': 11.72}, {'connected_gene': 'LOC101928123', 'score': 11.68}, {'connected_gene': 'RBM25', 'score': 10.97}, {'connected_gene': 'ELMSAN1', 'score': 10.09}, {'connected_gene': 'ZFYVE1', 'score': 6.0}, {'connected_gene': 'HEATR4', 'score': 4.65}, {'connected_gene': 'DPF3', 'score': 0.29}]
chr14 GH14I072960 72960954 72963401 1.12 [{'connected_gene': 'LOC100420966', 'score': 560.95}, {'connected_gene': 'GC14P072963', 'score': 550.77}, {'connected_gene': 'RPS12P1', 'score': 550.77}, {'connected_gene': 'TRC-GCA8-1', 'score': 550.77}, {'connected_gene': 'RBM25', 'score': 60.29}, {'connected_gene': 'ELMSAN1', 'score': 39.55}, {'connected_gene': 'LOC101928123', 'score': 14.97}, {'connected_gene': 'ENSG00000258891', 'score': 13.97}, {'connected_gene': 'NT5CP1', 'score': 12.27}, {'connected_gene': 'ZNF410', 'score': 11.29}, {'connected_gene': 'DCAF4', 'score': 11.08}, {'connected_gene': 'ENSG00000258443', 'score': 10.33}, {'connected_gene': 'ZFYVE1', 'score': 10.28}]
chr14 GH14I073360 73360270 73360567 0.23 [{'connected_gene': 'ENSG00000258695', 'score': 8.39}, {'connected_gene': 'NUMB', 'score': 7.6}, {'connected_gene': 'ZFYVE1', 'score': 3.97}, {'connected_gene': 'PSEN1', 'score': 3.07}, {'connected_gene': 'ELMSAN1', 'score': 1.53}, {'connected_gene': 'GC14P073395', 'score': 0.29}, {'connected_gene': 'ENSG00000258944', 'score': 0.17}]
chr14 GH14I073013 73013293 73015338 0.72 [{'connected_gene': 'GC14M073010', 'score': 550.77}, {'connected_gene': 'PSEN1', 'score': 12.89}, {'connected_gene': 'DCAF4', 'score': 11.72}, {'connected_gene': 'RBM25', 'score': 11.46}, {'connected_gene': 'LOC100420966', 'score': 10.69}, {'connected_gene': 'LOC101928123', 'score': 7.9}, {'connected_gene': 'GC14P073016', 'score': 0.77}, {'connected_gene': 'ZFYVE1', 'score': 0.39}]
chr14 GH14I073226 73226179 73229442 1.15 [{'connected_gene': 'GC14P073229', 'score': 550.77}, {'connected_gene': 'PIR53719', 'score': 550.77}, {'connected_gene': 'PSEN1', 'score': 11.66}, {'connected_gene': 'LOC101928123', 'score': 8.18}, {'connected_gene': 'NUMB', 'score': 8.03}, {'connected_gene': 'DPF3', 'score': 4.24}, {'connected_gene': 'ZFYVE1', 'score': 2.68}, {'connected_gene': 'RIOX1', 'score': 1.4}, {'connected_gene': 'GC14P073223', 'score': 0.44}]