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
ENST00000263846 [[61282784, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61318855, 61318935], [61323575, 61323679], [61348261, 61348620]] [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]]
ENST00000540677 [[61285528, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61313502, 61313727], [61318855, 61318935], [61323575, 61323679], [61348261, 61348298]] [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61313502, 61313727], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]]
ENST00000539468 [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61305615, 61305738], [61309682, 61310051], [61313502, 61313727], [61314006, 61314131], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]] [[61314109, 61314131], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]]
ENST00000539246 [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61305615, 61305738], [61309682, 61310051], [61314006, 61314131], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]] [[61314109, 61314131], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]]
ENST00000539008 [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61305615, 61305738], [61309682, 61310051], [61313502, 61313727], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]] [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61305615, 61305738], [61309682, 61310051], [61313502, 61313727], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]]
ENST00000542836 [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348310]] [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]]
ENST00000542670 [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61305615, 61305738], [61309682, 61310051], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348343]] [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61305615, 61305738], [61309682, 61310051], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]]
ENST00000535826 [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61313502, 61313727], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348344]] [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61313502, 61313727], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]]
ENST00000545053 [[61295482, 61295657], [61300460, 61300596], [61318855, 61318935], [61323575, 61323679], [61348261, 61348344]] [[61295482, 61295657], [61300460, 61300596], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]]
ENST00000540831 [[61291371, 61291413], [61291834, 61292004], [61292160, 61292285], [61295386, 61295657], [61300460, 61300575]] None
NM_001300773 [[61281187, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348344]] [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61314648, 61314780], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]]
NM_001252065 [[61281187, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61313502, 61313727], [61318855, 61318935], [61323575, 61323679], [61348261, 61348344]] [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61313502, 61313727], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]]
NM_004200 [[61281187, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61318855, 61318935], [61323575, 61323679], [61348261, 61348344]] [[61286098, 61286203], [61290546, 61290746], [61291298, 61291413], [61291834, 61292004], [61295386, 61295657], [61300460, 61300596], [61318855, 61318935], [61323575, 61323679], [61348261, 61348292]]
Promoter
Chrom Start End Description
chr11 61285320 61285351 CAGE_peak_5_at_SYT7_5end
chr11 61348483 61348572 CAGE_peak_1_at_SYT7_5end
chr11 61348576 61348613 CAGE_peak_2_at_SYT7_5end
chr11 61348630 61348639 CAGE_peak_7_at_SYT7_5end
chr11 61348652 61348667 CAGE_peak_3_at_SYT7_5end
chr11 61348670 61348682 CAGE_peak_6_at_SYT7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I061608 61608500 61610490 0.89 [{'connected_gene': 'SYT7', 'score': 11.7}, {'connected_gene': 'DAGLA', 'score': 10.75}, {'connected_gene': 'TMEM216', 'score': 9.96}, {'connected_gene': 'RPLP0P2', 'score': 0.44}, {'connected_gene': 'LOC101927495', 'score': 0.34}]
chr11 GH11I061580 61580323 61582138 2.04 [{'connected_gene': 'SYT7', 'score': 550.44}, {'connected_gene': 'TMEM132A', 'score': 10.49}, {'connected_gene': 'TMEM216', 'score': 4.58}, {'connected_gene': 'LOC105369331', 'score': 0.44}, {'connected_gene': 'ENSG00000256443', 'score': 0.28}]
chr11 GH11I061516 61516092 61517561 0.92 [{'connected_gene': 'SYT7', 'score': 10.72}, {'connected_gene': 'DDB1', 'score': 9.4}, {'connected_gene': 'TKFC', 'score': 9.4}, {'connected_gene': 'ENSG00000279878', 'score': 0.44}, {'connected_gene': 'LRRC10B', 'score': 0.44}]
chr11 GH11I061566 61566952 61568233 1.28 [{'connected_gene': 'CPSF7', 'score': 19.67}, {'connected_gene': 'TMEM138', 'score': 16.41}, {'connected_gene': 'RN7SL23P', 'score': 15.74}, {'connected_gene': 'TMEM109', 'score': 11.03}, {'connected_gene': 'LOC105369331', 'score': 0.34}, {'connected_gene': 'SYT7', 'score': 0.34}, {'connected_gene': 'ENSG00000256443', 'score': 0.31}]
chr11 GH11I061625 61625573 61629241 1.01 [{'connected_gene': 'DAGLA', 'score': 17.28}, {'connected_gene': 'SYT7', 'score': 11.53}, {'connected_gene': 'MYRF', 'score': 10.78}, {'connected_gene': 'DKFZP434K028', 'score': 10.77}, {'connected_gene': 'GC11P061636', 'score': 0.44}, {'connected_gene': 'RPLP0P2', 'score': 0.39}]
chr11 GH11I061730 61730082 61730968 0.75 [{'connected_gene': 'DAGLA', 'score': 11.6}, {'connected_gene': 'SYT7', 'score': 10.46}, {'connected_gene': 'MYRF', 'score': 9.43}, {'connected_gene': 'PIR41833', 'score': 0.39}]
chr11 GH11I061693 61693679 61702169 2.14 [{'connected_gene': 'DAGLA', 'score': 567.51}, {'connected_gene': 'MYRF', 'score': 20.92}, {'connected_gene': 'DKFZP434K028', 'score': 19.36}, {'connected_gene': 'SYT7', 'score': 11.01}, {'connected_gene': 'FTH1', 'score': 9.15}, {'connected_gene': 'CYB561A3', 'score': 7.63}, {'connected_gene': 'VWCE', 'score': 4.66}, {'connected_gene': 'SDHAF2', 'score': 4.48}, {'connected_gene': 'DDB1', 'score': 4.33}, {'connected_gene': 'CPSF7', 'score': 4.26}, {'connected_gene': 'PIR41833', 'score': 0.25}]
chr11 GH11I061731 61731896 61734041 1.1 [{'connected_gene': 'DAGLA', 'score': 16.92}, {'connected_gene': 'MYRF', 'score': 13.12}, {'connected_gene': 'DKFZP434K028', 'score': 12.6}, {'connected_gene': 'TMEM258', 'score': 11.65}, {'connected_gene': 'FEN1', 'score': 11.65}, {'connected_gene': 'MIR611', 'score': 11.65}, {'connected_gene': 'SYT7', 'score': 10.46}, {'connected_gene': 'PIR41833', 'score': 0.39}]
chr11 GH11I061670 61670949 61671981 0.95 [{'connected_gene': 'MYRF', 'score': 21.31}, {'connected_gene': 'DKFZP434K028', 'score': 14.96}, {'connected_gene': 'SYT7', 'score': 10.73}, {'connected_gene': 'DAGLA', 'score': 0.44}, {'connected_gene': 'GC11M061648', 'score': 0.39}]
chr11 GH11I061444 61444893 61449798 1.03 [{'connected_gene': 'TMEM216', 'score': 13.61}, {'connected_gene': 'SYT7', 'score': 10.49}, {'connected_gene': 'DDB1', 'score': 10.41}, {'connected_gene': 'TKFC', 'score': 10.4}, {'connected_gene': 'SDHAF2', 'score': 7.21}, {'connected_gene': 'GC11P061443', 'score': 0.77}, {'connected_gene': 'RN7SL23P', 'score': 0.77}, {'connected_gene': 'ENSG00000256591', 'score': 0.37}, {'connected_gene': 'PPP1R32', 'score': 0.29}]
chr11 GH11I061507 61507806 61515843 1.67 [{'connected_gene': 'LRRC10B', 'score': 550.77}, {'connected_gene': 'SYT7', 'score': 11.41}, {'connected_gene': 'TMEM216', 'score': 10.34}, {'connected_gene': 'DDB1', 'score': 9.41}, {'connected_gene': 'TKFC', 'score': 9.4}, {'connected_gene': 'MIR4488', 'score': 0.77}, {'connected_gene': 'ENSG00000279878', 'score': 0.39}]
chr11 GH11I061586 61586342 61589084 1.26 [{'connected_gene': 'LOC105369331', 'score': 550.77}, {'connected_gene': 'SYT7', 'score': 550.77}, {'connected_gene': 'LOC101927495', 'score': 550.77}, {'connected_gene': 'ENSG00000256443', 'score': 0.25}]
chr11 GH11I061577 61577165 61578284 0.85 [{'connected_gene': 'LOC105369331', 'score': 0.39}, {'connected_gene': 'SYT7', 'score': 0.39}, {'connected_gene': 'ENSG00000256443', 'score': 0.28}]
chr11 GH11I061581 61580029 61580178 0.46 [{'connected_gene': 'LOC105369331', 'score': 0.44}, {'connected_gene': 'SYT7', 'score': 0.44}, {'connected_gene': 'ENSG00000256443', 'score': 0.28}]
chr11 GH11I061579 61579509 61579658 0.43 [{'connected_gene': 'LOC105369331', 'score': 0.44}, {'connected_gene': 'SYT7', 'score': 0.44}, {'connected_gene': 'ENSG00000256443', 'score': 0.28}]
chr11 GH11I061638 61638400 61638678 0.95 [{'connected_gene': 'GC11P061636', 'score': 550.77}, {'connected_gene': 'GC11P061637', 'score': 550.77}, {'connected_gene': 'SYT7', 'score': 11.34}, {'connected_gene': 'DAGLA', 'score': 10.94}, {'connected_gene': 'DDB1', 'score': 9.41}, {'connected_gene': 'TKFC', 'score': 9.41}, {'connected_gene': 'ENSG00000255947', 'score': 0.37}, {'connected_gene': 'RPLP0P2', 'score': 0.34}]
chr11 GH11I061534 61534589 61534738 0.63 [{'connected_gene': 'ENSG00000256443', 'score': 0.44}, {'connected_gene': 'ENSG00000279878', 'score': 0.44}, {'connected_gene': 'SYT7', 'score': 0.23}]
chr11 GH11I061532 61532249 61532398 0.83 [{'connected_gene': 'ENSG00000256443', 'score': 0.44}, {'connected_gene': 'ENSG00000279878', 'score': 0.44}, {'connected_gene': 'SYT7', 'score': 0.22}]
chr11 GH11I061533 61533529 61533758 0.72 [{'connected_gene': 'ENSG00000256443', 'score': 0.44}, {'connected_gene': 'ENSG00000279878', 'score': 0.44}, {'connected_gene': 'SYT7', 'score': 0.23}]
chr11 GH11I061539 61539273 61542474 0.88 [{'connected_gene': 'ENSG00000256443', 'score': 550.77}, {'connected_gene': 'LRRC10B', 'score': 12.41}, {'connected_gene': 'SYT7', 'score': 11.59}, {'connected_gene': 'DDB1', 'score': 9.77}, {'connected_gene': 'TKFC', 'score': 9.33}, {'connected_gene': 'ZP1', 'score': 4.93}, {'connected_gene': 'ENSG00000279878', 'score': 0.39}]
chr11 GH11I061544 61544303 61547279 0.71 [{'connected_gene': 'ENSG00000256443', 'score': 0.77}, {'connected_gene': 'LOC105369331', 'score': 0.26}, {'connected_gene': 'SYT7', 'score': 0.26}]
chr11 GH11I061551 61551749 61551928 0.77 [{'connected_gene': 'ENSG00000256443', 'score': 0.44}, {'connected_gene': 'LOC105369331', 'score': 0.28}, {'connected_gene': 'SYT7', 'score': 0.28}]
chr11 GH11I061553 61553769 61553918 0.52 [{'connected_gene': 'ENSG00000256443', 'score': 0.39}, {'connected_gene': 'LOC105369331', 'score': 0.29}, {'connected_gene': 'SYT7', 'score': 0.29}]
chr11 GH11I061543 61543989 61544198 0.63 [{'connected_gene': 'ENSG00000256443', 'score': 550.77}, {'connected_gene': 'LOC105369331', 'score': 0.26}, {'connected_gene': 'SYT7', 'score': 0.26}]