Special

HsaEX0007669 @ hg19

Exon Skipping

Gene
Description
proline-rich coiled-coil 2B [Source:HGNC Symbol;Acc:28121]
Coordinates
chr9:134312007-134314448:+
Coord C1 exon
chr9:134312007-134312109
Coord A exon
chr9:134312233-134312282
Coord C2 exon
chr9:134314376-134314448
Length
50 bp
Sequences
Splice sites
3' ss Seq
GCATGACCTGTCTATTCCAGAGG
3' ss Score
6.59
5' ss Seq
AAGGTCAGT
5' ss Score
8.68
Exon sequences
Seq C1 exon
TTCCAGTGCGACGGCCTCTCAGCCGCCGGAGTCGCTGCCGCAGCCGGGTTTGCAGAAATCTGTCTCCAATTTGCAGAAACCGACACAGTCAATCAGTCAGGAG
Seq A exon
AGGCACACCCGATGAGTGACTTTAGAAAACCGTCATGGGAAACCGTCAAG
Seq C2 exon
AATACAAATTCAGTGCCAGGTGGACCAAAGTCATGGGCACAGCTGAATGGAAAGCCAGTAGGACACGAAGGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130723-'5-7,'5-6,6-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
PF070016=BAT2_N=FE(17.5=100)
A:
PF070016=BAT2_N=PD(2.2=60.0)
C2:
PF070016=BAT2_N=FE(12.4=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCGGGTTTGCAGAAATCTG
R:
ACCTTCGTGTCCTACTGGCTT
Band lengths:
134-184
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development