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
ENST00000301770 [[61025761, 61026784], [61031958, 61032049], [61032427, 61032510], [61032593, 61032684], [61034933, 61035016], [61036393, 61036551], [61039146, 61039232], [61040670, 61040788], [61041970, 61042056], [61044064, 61044152], [61045865, 61045948], [61048095, 61048189], [61048264, 61048707], [61049257, 61049386], [61050264, 61050377], [61053785, 61053902], [61058270, 61058399], [61058735, 61058825], [61058953, 61059048], [61062399, 61062563]] [[61049380, 61049386], [61050264, 61050377], [61053785, 61053902], [61058270, 61058399], [61058735, 61058825], [61058953, 61059048], [61062399, 61062509]]
ENST00000335613 [[61025761, 61026784], [61031958, 61032049], [61032427, 61032510], [61032593, 61032684], [61034933, 61035016], [61036393, 61036490], [61039146, 61039232], [61040670, 61040788], [61041970, 61042056], [61044064, 61044152], [61045865, 61045948], [61048095, 61048189], [61048264, 61048707], [61049257, 61049386], [61050260, 61050377], [61053785, 61053902], [61058270, 61058399], [61058735, 61058825], [61058953, 61059048], [61062399, 61062896]] [[61026146, 61026784], [61031958, 61032049], [61032427, 61032510], [61032593, 61032684], [61034933, 61035016], [61036393, 61036490], [61039146, 61039232], [61040670, 61040788], [61041970, 61042056], [61044064, 61044152], [61045865, 61045948], [61048095, 61048189], [61048264, 61048707], [61049257, 61049386], [61050260, 61050377], [61053785, 61053902], [61058270, 61058399], [61058735, 61058825], [61058953, 61059048], [61062399, 61062509]]
ENST00000535710 [[61026095, 61026784], [61031958, 61032049], [61032427, 61032510], [61032593, 61032684], [61034933, 61035016], [61036393, 61036490], [61039146, 61039232], [61040670, 61040788], [61041179, 61041278]] [[61026146, 61026784], [61031958, 61032049], [61032427, 61032510], [61032593, 61032684], [61034933, 61035016], [61036393, 61036490], [61039146, 61039232], [61040670, 61040764]]
ENST00000538438 [[61026552, 61026784], [61031958, 61032049], [61032427, 61032510], [61032593, 61032684], [61034933, 61035016], [61036393, 61036889]] None
ENST00000398808 [[61038636, 61039232], [61040670, 61040791]] None
ENST00000535599 [[61049969, 61050008], [61050260, 61050377], [61053785, 61053902], [61058270, 61058399], [61058735, 61059048], [61062399, 61062567]] [[61058300, 61058399], [61058735, 61059048], [61062399, 61062509]]
ENST00000538579 [[61053734, 61053902], [61058270, 61058399], [61058735, 61058825], [61058953, 61059048], [61062399, 61062498]] None
NM_152718 [[61025757, 61026784], [61031958, 61032049], [61032427, 61032510], [61032593, 61032684], [61034933, 61035016], [61036393, 61036490], [61039146, 61039232], [61040670, 61040788], [61041970, 61042056], [61044064, 61044152], [61045865, 61045948], [61048095, 61048189], [61048264, 61048707], [61049257, 61049386], [61050260, 61050377], [61053785, 61053902], [61058270, 61058399], [61058735, 61058825], [61058953, 61059048], [61062399, 61062788]] [[61026146, 61026784], [61031958, 61032049], [61032427, 61032510], [61032593, 61032684], [61034933, 61035016], [61036393, 61036490], [61039146, 61039232], [61040670, 61040788], [61041970, 61042056], [61044064, 61044152], [61045865, 61045948], [61048095, 61048189], [61048264, 61048707], [61049257, 61049386], [61050260, 61050377], [61053785, 61053902], [61058270, 61058399], [61058735, 61058825], [61058953, 61059048], [61062399, 61062509]]
Promoter
Chrom Start End Description
chr11 61062737 61062756 CAGE_peak_3_at_VWCE_5end
chr11 61062762 61062809 CAGE_peak_1_at_VWCE_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH11I061686 61686122 61687144 0.2 [{'connected_gene': 'MYRF', 'score': 12.26}, {'connected_gene': 'DKFZP434K028', 'score': 4.82}, {'connected_gene': 'VWCE', 'score': 4.72}, {'connected_gene': 'DAGLA', 'score': 0.44}, {'connected_gene': 'PIR41833', 'score': 0.22}]
chr11 GH11I061279 61279708 61281018 0.31 [{'connected_gene': 'TKFC', 'score': 11.14}, {'connected_gene': 'DDB1', 'score': 11.11}, {'connected_gene': 'TMEM216', 'score': 10.61}, {'connected_gene': 'VWCE', 'score': 0.37}, {'connected_gene': 'PGA5', 'score': 0.28}]
chr11 GH11I061281 61281201 61281400 0.46 [{'connected_gene': 'TKFC', 'score': 11.14}, {'connected_gene': 'DDB1', 'score': 11.11}, {'connected_gene': 'TMEM216', 'score': 10.61}, {'connected_gene': 'VWCE', 'score': 0.39}, {'connected_gene': 'PGA5', 'score': 0.26}]
chr11 GH11I061282 61281414 61282335 0.9 [{'connected_gene': 'TKFC', 'score': 11.14}, {'connected_gene': 'DDB1', 'score': 11.11}, {'connected_gene': 'TMEM216', 'score': 10.62}, {'connected_gene': 'VWCE', 'score': 0.39}, {'connected_gene': 'PGA5', 'score': 0.26}]
chr11 GH11I061293 61293430 61296045 1.95 [{'connected_gene': 'VWCE', 'score': 550.77}, {'connected_gene': 'PGA5', 'score': 0.23}]
chr11 GH11I061256 61256849 61256998 0.2 [{'connected_gene': 'VWCE', 'score': 11.49}, {'connected_gene': 'DDB1', 'score': 11.38}, {'connected_gene': 'TKFC', 'score': 10.78}, {'connected_gene': 'PGA5', 'score': 0.37}]
chr11 GH11I061267 61267549 61267698 0.82 [{'connected_gene': 'VWCE', 'score': 12.35}, {'connected_gene': 'DDB1', 'score': 12.23}, {'connected_gene': 'TKFC', 'score': 10.87}, {'connected_gene': 'PGA5', 'score': 0.31}]
chr11 GH11I061254 61254529 61254678 0.71 [{'connected_gene': 'VWCE', 'score': 11.48}, {'connected_gene': 'DDB1', 'score': 11.38}, {'connected_gene': 'TKFC', 'score': 10.78}, {'connected_gene': 'PGA5', 'score': 0.39}]
chr11 GH11I061265 61265094 61265887 0.75 [{'connected_gene': 'VWCE', 'score': 12.35}, {'connected_gene': 'DDB1', 'score': 12.22}, {'connected_gene': 'TKFC', 'score': 10.87}, {'connected_gene': 'PGA5', 'score': 0.34}]
chr11 GH11I061250 61250909 61251038 0.2 [{'connected_gene': 'DDB1', 'score': 11.36}, {'connected_gene': 'CD6', 'score': 10.66}, {'connected_gene': 'TKFC', 'score': 10.65}, {'connected_gene': 'PGA5', 'score': 0.44}, {'connected_gene': 'VWCE', 'score': 0.26}]
chr11 GH11I061270 61270589 61270801 0.74 [{'connected_gene': 'DDB1', 'score': 12.1}, {'connected_gene': 'TKFC', 'score': 11.8}, {'connected_gene': 'TMEM216', 'score': 10.58}, {'connected_gene': 'RNU6-933P', 'score': 10.29}, {'connected_gene': 'VWCE', 'score': 0.34}, {'connected_gene': 'PGA5', 'score': 0.31}]
chr11 GH11I061296 61296993 61299987 1.3 [{'connected_gene': 'PIR45270', 'score': 550.77}, {'connected_gene': 'VWCE', 'score': 0.77}, {'connected_gene': 'DDB1', 'score': 0.26}]