Special

HsaEX0007672 @ hg38

Exon Skipping

Gene
ENSG00000130723 | PRRC2B
Description
proline rich coiled-coil 2B [Source:HGNC Symbol;Acc:HGNC:28121]
Coordinates
chr9:131444185-131447206:+
Coord C1 exon
chr9:131444185-131444328
Coord A exon
chr9:131446401-131446642
Coord C2 exon
chr9:131447085-131447206
Length
242 bp
Sequences
Splice sites
3' ss Seq
TGCCCCCTTTCAATTTCCAGATG
3' ss Score
11.44
5' ss Seq
TTTGTAAGT
5' ss Score
7.4
Exon sequences
Seq C1 exon
GTTTAAGGGGCTCAAGCCGACTGTTATCCTTCTCTCCCGAGGAATTTCCGACGCTGAAAGCAGCTGGAGGGCAGGACAAGGCTGGCAAAGAAAAGGGCGTCTTAGATCTGTCGTATGGGCCAGGACCAAGCCTCCGCCCTCAGA
Seq A exon
ATGTGACAAGCTGGAGGGAGGGCGGTGGGCGACACATAATTTCTGCCACGTCTCTGAGCACCTCCCCAACTGAGCTGGGCAGCAGGAACTCGAGTACGGGAGATGGAGCCCCCTCCTCGGCATGTACCAGCGATTCTAAGGACCCCTCTCTCCGCCCGGCTCAGCCTGTCCGAAAAGGGGCTTCACAGTTCATGGGAAATGTATACCACCCACCTACATACCATGACATGCTTCCTGCTTTT
Seq C2 exon
ATGTGTTCGCCGAAGTCATCAGAAAACCAGGGTACAGTGGAACGAGGCTCTTTTCCCCTTCCTCAGCTCCGCCTTGAACCTCGAGTTCCTTTTAGACAGTTCCAGATGAATGACCAAGACGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130723_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.937 C2=1.000
Domain overlap (PFAM):

C1:
PF070016=BAT2_N=PD(19.1=75.5)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCAAGCCGACTGTTATCCT
R:
CCGTCTTGGTCATTCATCTGGA
Band lengths:
257-499
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