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
ENST00000504986 [[41937136, 41937546], [41940618, 41940713], [41941212, 41941400], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41956086, 41962589]] [[41937501, 41937546], [41940618, 41940713], [41941212, 41941400], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41956086, 41956216]]
ENST00000508448 [[41937145, 41937327], [41937483, 41937546], [41940618, 41940713], [41941212, 41941400], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41956086, 41956139]] [[41937501, 41937546], [41940618, 41940713], [41941212, 41941400], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41956086, 41956139]]
ENST00000513702 [[41937145, 41937279], [41937483, 41937546], [41940618, 41940713], [41941212, 41941400], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41956086, 41956412]] [[41937501, 41937546], [41940618, 41940713], [41941212, 41941400], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41956086, 41956216]]
ENST00000264452 [[41937145, 41937546], [41940618, 41940713], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41956086, 41956874]] [[41937501, 41937546], [41940618, 41940713]]
ENST00000325094 [[41937168, 41937546], [41940618, 41940713], [41941212, 41941400], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41956086, 41960190], [41960888, 41962580]] [[41937501, 41937546], [41940618, 41940713], [41941212, 41941400], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41956086, 41956216]]
ENST00000510383 [[41937400, 41937546], [41940618, 41940713], [41945763, 41946219]] None
ENST00000506794 [[41937460, 41937546], [41940618, 41940713], [41941737, 41941845], [41945763, 41945831], [41946809, 41946943], [41951318, 41951401]] [[41937501, 41937546], [41940618, 41940713], [41941737, 41941804]]
ENST00000513558 [[41941271, 41941400], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41955776, 41956038]] [[41941271, 41941400], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41955776, 41955828]]
NM_018126 [[41937136, 41937546], [41940618, 41940713], [41941212, 41941400], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41956086, 41962824]] [[41937501, 41937546], [41940618, 41940713], [41941212, 41941400], [41945763, 41945831], [41946809, 41946943], [41951318, 41951402], [41956086, 41956216]]
Promoter
Chrom Start End Description
chr4 41937131 41937211 CAGE_peak_1_at_TMEM33_5end
chr4 41937219 41937230 CAGE_peak_3_at_TMEM33_5end
chr4 41937231 41937252 CAGE_peak_2_at_TMEM33_5end
chr4 41937307 41937318 CAGE_peak_4_at_TMEM33_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I041933 41933663 41936772 2.32 [{'connected_gene': 'TMEM33', 'score': 553.85}, {'connected_gene': 'LOC105374426', 'score': 550.77}, {'connected_gene': 'GC04P041959', 'score': 0.34}]
chr4 GH04I041938 41938564 41939927 0.75 [{'connected_gene': 'DCAF4L1', 'score': 10.96}, {'connected_gene': 'TMEM33', 'score': 0.77}, {'connected_gene': 'GC04P041959', 'score': 0.37}]