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
ENST00000541412 [[10723147, 10723474], [10724788, 10724866], [10725193, 10725270], [10726139, 10726241], [10728872, 10728960], [10730847, 10731352]] [[10724846, 10724866], [10725193, 10725270], [10726139, 10726241], [10728872, 10728960], [10730847, 10730899]]
ENST00000229563 [[10723207, 10723474], [10724802, 10724866], [10725193, 10725270], [10726139, 10726241], [10728872, 10728960], [10730847, 10731362]] [[10724846, 10724866], [10725193, 10725270], [10726139, 10726241], [10728872, 10728960], [10730847, 10730899]]
ENST00000466421 [[10723341, 10723474], [10726139, 10726241], [10728872, 10728960], [10730847, 10730996]] None
ENST00000467415 [[10723357, 10723474], [10725193, 10725270], [10726139, 10726241], [10728872, 10728960], [10730847, 10731362]] None
ENST00000495549 [[10724654, 10724866], [10725193, 10725270], [10726139, 10726241], [10728872, 10728960]] None
NM_016462 [[10723147, 10723474], [10724802, 10724866], [10725193, 10725270], [10726139, 10726241], [10728872, 10728960], [10730847, 10731362]] [[10724846, 10724866], [10725193, 10725270], [10726139, 10726241], [10728872, 10728960], [10730847, 10730899]]
NM_001165258 [[10723147, 10723474], [10724788, 10724866], [10725193, 10725270], [10726139, 10726241], [10728872, 10728960], [10730847, 10731362]] [[10724846, 10724866], [10725193, 10725270], [10726139, 10726241], [10728872, 10728960], [10730847, 10730899]]
Promoter
Chrom Start End Description
chr6 10723228 10723239 CAGE_peak_3_at_TMEM14C_5end
chr6 10723295 10723390 CAGE_peak_1_at_TMEM14C_5end
chr6 10723392 10723434 CAGE_peak_2_at_TMEM14C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I010440 10440802 10442709 1.21 [{'connected_gene': 'TFAP2A', 'score': 6.48}, {'connected_gene': 'TMEM14C', 'score': 3.0}, {'connected_gene': 'TMEM14B', 'score': 2.29}, {'connected_gene': 'PAK1IP1', 'score': 2.18}, {'connected_gene': 'GCNT2', 'score': 1.36}, {'connected_gene': 'MIR5689', 'score': 0.77}, {'connected_gene': 'MIR5689HG', 'score': 0.44}, {'connected_gene': 'MRPL48P1', 'score': 0.37}]
chr6 GH06I010398 10398426 10421363 3.44 [{'connected_gene': 'TFAP2A', 'score': 558.88}, {'connected_gene': 'TFAP2A-AS1', 'score': 550.77}, {'connected_gene': 'RNA5SP203', 'score': 32.23}, {'connected_gene': 'ERVFRD-1', 'score': 9.71}, {'connected_gene': 'PAK1IP1', 'score': 5.12}, {'connected_gene': 'TMEM14C', 'score': 4.17}, {'connected_gene': 'TMEM14B', 'score': 3.71}, {'connected_gene': 'C6orf52', 'score': 2.03}]
chr6 GH06I010642 10642801 10643800 1.1 [{'connected_gene': 'TMEM14C', 'score': 6.13}, {'connected_gene': 'PIR56839', 'score': 0.44}, {'connected_gene': 'LOC105374924', 'score': 0.37}]
chr6 GH06I010719 10719401 10726130 2.31 [{'connected_gene': 'TMEM14C', 'score': 556.63}, {'connected_gene': 'RNA5SP203', 'score': 13.02}, {'connected_gene': 'ENSG00000272097', 'score': 12.71}, {'connected_gene': 'ERVFRD-1', 'score': 9.74}, {'connected_gene': 'PAK1IP1', 'score': 5.17}, {'connected_gene': 'C6orf52', 'score': 4.76}]
chr6 GH06I010693 10693439 10696164 2.1 [{'connected_gene': 'C6orf52', 'score': 565.71}, {'connected_gene': 'PAK1IP1', 'score': 557.95}, {'connected_gene': 'RNA5SP203', 'score': 22.46}, {'connected_gene': 'TMEM14C', 'score': 0.31}]
chr6 GH06I010425 10425435 10432419 1.82 [{'connected_gene': 'GCNT2', 'score': 10.28}, {'connected_gene': 'TMEM14C', 'score': 9.75}, {'connected_gene': 'GCM2', 'score': 9.33}, {'connected_gene': 'SYCP2L', 'score': 9.33}, {'connected_gene': 'ENSG00000235051', 'score': 9.33}, {'connected_gene': 'ENSG00000228478', 'score': 0.77}, {'connected_gene': 'MIR5689HG', 'score': 0.44}, {'connected_gene': 'LINC00518', 'score': 0.44}]
chr6 GH06I010750 10750644 10752278 0.72 [{'connected_gene': 'RNA5SP203', 'score': 550.77}, {'connected_gene': 'TMEM14C', 'score': 10.0}, {'connected_gene': 'TMEM14B', 'score': 0.77}, {'connected_gene': 'ENSG00000272162', 'score': 0.77}]
chr6 GH06I011611 11611749 11616977 1 [{'connected_gene': 'TMEM170B', 'score': 13.05}, {'connected_gene': 'TMEM14C', 'score': 4.29}, {'connected_gene': 'ENSG00000271897', 'score': 0.44}, {'connected_gene': 'ENSG00000277473', 'score': 0.31}]
chr6 GH06I010732 10732633 10736325 1.09 [{'connected_gene': 'ENSG00000272097', 'score': 12.46}, {'connected_gene': 'C6orf52', 'score': 11.24}, {'connected_gene': 'PAK1IP1', 'score': 11.23}, {'connected_gene': 'GC06M010746', 'score': 0.39}, {'connected_gene': 'TMEM14C', 'score': 0.39}]