Special

HsaEX6016165 @ hg19

Exon Skipping

Gene
Description
bromodomain adjacent to zinc finger domain, 2B [Source:HGNC Symbol;Acc:963]
Coordinates
chr2:160203997-160205791:-
Coord C1 exon
chr2:160205518-160205791
Coord A exon
chr2:160205189-160205344
Coord C2 exon
chr2:160203997-160204157
Length
156 bp
Sequences
Splice sites
3' ss Seq
ACTTATTTATCTTGACTTAGAAA
3' ss Score
5.63
5' ss Seq
ATGGTGTGT
5' ss Score
4.84
Exon sequences
Seq C1 exon
GTGAAAGGTGGAGTATCTATGATGGGACTTCAGTTTTGTGGATGGCCCACTGGTGTGGTTACTTCTAATATTCCATTTACATCATCTGTACCTAGTCTAGGATCGGGGTTAGGGTTATCAGAAGGAAATGGTAATTCATTCTTGACTTCCAATGTTGCTTCAAGTAAAAGTGAATCTCCAGTACCACAGAATGAAAAGGCCACTTCAGCTCAACCTGCAGCTGTTGAAGTAGCAAAACCAGTAGATTTTCCTAGTCCAAAACCTATTCCAGAAG
Seq A exon
AAATGCAGTTTGGTTGGTGGAGAATTATTGACCCAGAGGACCTAAAAGCTTTGCTCAAAGTGCTGCATCTCAGAGGAATAAGAGAAAAGGCATTACAAAAACAAATTCAGAAACATTTGGATTATATTACTCAAGCCTGCCTCAAGAATAAGGATG
Seq C2 exon
TTGCTATTATTGAACTGAATGAAAATGAAGAAAACCAAGTAACTCGAGATATTGTGGAGAACTGGTCAGTAGAAGAACAAGCAATGGAAATGGATTTGAGTGTCCTTCAACAGGTAGAAGATCTAGAAAGGAGAGTTGCATCAGCAAGTTTGCAAGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000123636-'48-47,'48-46,49-47=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.467 A=0.000 C2=0.127
Domain overlap (PFAM):

C1:
NO
A:
PF156141=WHIM3=WD(100=75.5)
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCTAGGATCGGGGTTAGGGT
R:
TCTACTGACCAGTTCTCCACA
Band lengths:
253-409
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains