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
ENST00000296575 [[145567172, 145568106], [145573756, 145573949], [145579941, 145580098], [145580788, 145580990], [145627682, 145627834], [145628238, 145628412], [145629319, 145629463], [145633101, 145633223], [145635376, 145635500], [145636451, 145636582], [145640026, 145640108], [145655892, 145656041], [145658915, 145666423]] [[145567827, 145568106], [145573756, 145573949], [145579941, 145580098], [145580788, 145580990], [145627682, 145627834], [145628238, 145628412], [145629319, 145629463], [145633101, 145633223], [145635376, 145635500], [145636451, 145636582], [145640026, 145640108], [145655892, 145656041], [145658915, 145659109]]
ENST00000434550 [[145567323, 145568106], [145573756, 145573949], [145579941, 145580098], [145580788, 145581425]] [[145567827, 145568106], [145573756, 145573949], [145579941, 145580098], [145580788, 145581122]]
ENST00000505891 [[145568250, 145568379], [145573756, 145573949], [145580013, 145580098], [145580788, 145580928]] None
ENST00000511314 [[145569331, 145569908], [145573756, 145573949], [145576034, 145576185], [145579941, 145580098], [145580788, 145581008]] None
ENST00000515080 [[145571766, 145572108], [145573756, 145573949], [145579941, 145579991]] None
ENST00000509630 [[145573810, 145573949], [145579941, 145580098], [145580788, 145580990], [145606752, 145606817]] None
ENST00000512791 [[145629282, 145629463], [145633101, 145633223], [145635376, 145635500], [145636152, 145636225], [145636451, 145636775]] None
ENST00000503090 [[145656018, 145656041], [145658915, 145659044], [145659870, 145660045]] None
NM_022475 [[145567147, 145568106], [145573756, 145573949], [145579941, 145580098], [145580788, 145580990], [145627682, 145627834], [145628238, 145628412], [145629319, 145629463], [145633101, 145633223], [145635376, 145635500], [145636451, 145636582], [145640026, 145640108], [145655892, 145656041], [145658915, 145659881]] [[145567827, 145568106], [145573756, 145573949], [145579941, 145580098], [145580788, 145580990], [145627682, 145627834], [145628238, 145628412], [145629319, 145629463], [145633101, 145633223], [145635376, 145635500], [145636451, 145636582], [145640026, 145640108], [145655892, 145656041], [145658915, 145659109]]
Promoter
Chrom Start End Description
chr4 145566841 145566862 CAGE_peak_10_at_HHIP_5end
chr4 145566874 145566889 CAGE_peak_15_at_HHIP_5end
chr4 145567278 145567296 CAGE_peak_3_at_HHIP_5end
chr4 145567297 145567355 CAGE_peak_1_at_HHIP_5end
chr4 145567356 145567368 CAGE_peak_7_at_HHIP_5end
chr4 145567374 145567390 CAGE_peak_6_at_HHIP_5end
chr4 145567391 145567425 CAGE_peak_4_at_HHIP_5end
chr4 145567426 145567455 CAGE_peak_5_at_HHIP_5end
chr4 145567461 145567482 CAGE_peak_9_at_HHIP_5end
chr4 145567538 145567544 CAGE_peak_13_at_HHIP_5end
chr4 145567563 145567572 CAGE_peak_8_at_HHIP_5end
chr4 145567767 145567851 CAGE_peak_2_at_HHIP_5end
chr4 145629311 145629322 CAGE_peak_17_at_HHIP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I144627 144627689 144628038 0.51 [{'connected_gene': 'HHIP-AS1', 'score': 13.03}, {'connected_gene': 'HHIP', 'score': 0.37}, {'connected_gene': 'KRT18P51', 'score': 0.22}, {'connected_gene': 'GYPA', 'score': 0.07}]
chr4 GH04I144700 144700767 144702128 0.38 [{'connected_gene': 'HHIP-AS1', 'score': 11.44}, {'connected_gene': 'HHIP', 'score': 11.4}, {'connected_gene': 'RTN3P1', 'score': 4.94}, {'connected_gene': 'GC04P144686', 'score': 0.39}, {'connected_gene': 'ENSG00000273621', 'score': 0.28}, {'connected_gene': 'GYPA', 'score': 0.1}]
chr4 GH04I144658 144658531 144663105 0.54 [{'connected_gene': 'HHIP-AS1', 'score': 550.77}, {'connected_gene': 'ENSG00000248356', 'score': 11.39}, {'connected_gene': 'RTN3P1', 'score': 5.28}, {'connected_gene': 'HHIP', 'score': 0.39}, {'connected_gene': 'GYPA', 'score': 0.08}]
chr4 GH04I144578 144578233 144584927 0.92 [{'connected_gene': 'HHIP', 'score': 11.05}, {'connected_gene': 'HHIP-AS1', 'score': 11.02}, {'connected_gene': 'KRT18P51', 'score': 0.44}, {'connected_gene': 'GYPA', 'score': 0.06}]
chr4 GH04I144577 144577445 144577562 0.22 [{'connected_gene': 'HHIP', 'score': 10.79}, {'connected_gene': 'HHIP-AS1', 'score': 10.76}, {'connected_gene': 'KRT18P51', 'score': 0.44}, {'connected_gene': 'GYPA', 'score': 0.06}]
chr4 GH04I144649 144649702 144649933 0.78 [{'connected_gene': 'HHIP', 'score': 0.77}, {'connected_gene': 'HHIP-AS1', 'score': 0.39}, {'connected_gene': 'GYPA', 'score': 0.07}]
chr4 GH04I144666 144666969 144667118 0.4 [{'connected_gene': 'HHIP', 'score': 12.71}, {'connected_gene': 'HHIP-AS1', 'score': 0.44}, {'connected_gene': 'GC04P144686', 'score': 0.37}, {'connected_gene': 'GYPA', 'score': 0.08}]
chr4 GH04I144708 144708092 144712643 0.66 [{'connected_gene': 'HHIP', 'score': 15.76}, {'connected_gene': 'HHIP-AS1', 'score': 11.54}, {'connected_gene': 'GC04P144686', 'score': 0.34}, {'connected_gene': 'ENSG00000273621', 'score': 0.31}, {'connected_gene': 'GYPA', 'score': 0.1}]
chr4 GH04I144644 144644523 144648803 2.81 [{'connected_gene': 'HHIP', 'score': 550.77}, {'connected_gene': 'RTN3P1', 'score': 5.78}, {'connected_gene': 'HHIP-AS1', 'score': 0.39}, {'connected_gene': 'GYPA', 'score': 0.07}]
chr4 GH04I144591 144591188 144591872 0.72 [{'connected_gene': 'KRT18P51', 'score': 0.37}, {'connected_gene': 'HHIP', 'score': 0.23}, {'connected_gene': 'GYPA', 'score': 0.06}]
chr4 GH04I144664 144664201 144664400 0.4 [{'connected_gene': 'RTN3P1', 'score': 5.28}, {'connected_gene': 'HHIP-AS1', 'score': 0.77}, {'connected_gene': 'HHIP', 'score': 0.37}, {'connected_gene': 'GC04P144686', 'score': 0.34}, {'connected_gene': 'GYPA', 'score': 0.08}]
chr4 GH04I144650 144650401 144651000 0.51 [{'connected_gene': 'RTN3P1', 'score': 5.31}, {'connected_gene': 'HHIP', 'score': 0.77}, {'connected_gene': 'HHIP-AS1', 'score': 0.39}, {'connected_gene': 'GYPA', 'score': 0.07}]
chr4 GH04I144634 144634013 144636520 0.52 [{'connected_gene': 'RTN3P1', 'score': 5.34}, {'connected_gene': 'HHIP', 'score': 0.39}, {'connected_gene': 'KRT18P51', 'score': 0.21}, {'connected_gene': 'GYPA', 'score': 0.07}]
chr4 GH04I145034 145034180 145036033 1.23 [{'connected_gene': 'RN7SKP235', 'score': 550.77}, {'connected_gene': 'HHIP', 'score': 4.4}, {'connected_gene': 'ANAPC10', 'score': 0.21}, {'connected_gene': 'ENSG00000251452', 'score': 0.14}]
chr4 GH04I144651 144651690 144658513 0.62 [{'connected_gene': 'ENSG00000248356', 'score': 11.39}, {'connected_gene': 'OTUD4', 'score': 10.34}, {'connected_gene': 'ANAPC10', 'score': 10.05}, {'connected_gene': 'RTN3P1', 'score': 5.6}, {'connected_gene': 'HHIP-AS1', 'score': 0.44}, {'connected_gene': 'HHIP', 'score': 0.44}, {'connected_gene': 'GYPA', 'score': 0.08}]