Special

HsaEX6067200 @ hg19

Exon Skipping

Gene
Description
bromodomain adjacent to zinc finger domain, 2A [Source:HGNC Symbol;Acc:962]
Coordinates
chr12:56994727-56995976:-
Coord C1 exon
chr12:56995330-56995976
Coord A exon
chr12:56994964-56995186
Coord C2 exon
chr12:56994727-56994882
Length
223 bp
Sequences
Splice sites
3' ss Seq
ATGTCTCATTTTATTCACAGATG
3' ss Score
9.14
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
Exon sequences
Seq C1 exon
GAAAAACTAAGCCCGGGTCTATGCAACCTAGGCATCTTAAGTCCCCTGTCAGGGGTCAGGATTCAGAACAGCCCCAGGCCCAGCTTCAGCCTGAGGCTCAGCTTCATGCTCCTGCCCAGCCCCAGCCTCAGCTTCAGCTTCAGCTTCAGTCCCATAAGGGGTTCCTGGAGCAAGAAGGCTCCCCTTTGTCACTGGGTCAGAGCCAGCATGACCTCAGCCAGTCAGCCTTCCTGTCTTGGCTGAGCCAGACTCAGAGCCATAGCTCCCTGTTGAGCAGCTCAGTCCTCACACCTGATAGCAGTCCGGGAAAACTAGACCCAGCTCCATCACAACCCCCGGAGGAGCCAGAGCCTGATGAGGCAGAATCCAGCCCTGATCCTCAAGCACTCTGGTTTAACATCTCAGCCCAGATGCCCTGCAATGCTGCCCCCACACCGCCCCCTGCAGTTTCTGAGGACCAACCCACTCCCTCCCCTCAGCAGCTTGCCTCCTCCAAGCCA
Seq A exon
ATGAATAGACCTAGTGCTGCCAACCCTTGTTCTCCAGTGCAGTTCTCTTCCACGCCCTTGGCTGGGTTGGCCCCTAAGAGGCGAGCAGGAGACCCTGGAGAAATGCCACAGAGTCCCACAGGGCTGGGACAGCCCAAACGGAGAGGGAGACCTCCCAGTAAGTTCTTCAAACAGATGGAACAGCGTTACCTAACCCAGCTGACAGCCCAGCCTGTCCCACCTG
Seq C2 exon
AGATGTGCTCAGGCTGGTGGTGGATACGAGATCCTGAGATGTTGGATGCCATGCTCAAGGCCCTACACCCCCGAGGTATCCGGGAGAAGGCACTTCACAAACACCTTAACAAGCACAGGGACTTCTTGCAGGAAGTCTGCCTGCGGCCCTCAGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076108-'26-31,'26-30,27-31=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.903 A=0.880 C2=0.075
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF156141=WHIM3=WD(100=79.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTTGAGCAGCTCAGTCCTCAC
R:
CCTTGAGCATGGCATCCAACA
Band lengths:
292-515
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains