Special

HsaEX6063594 @ hg19

Exon Skipping

Gene
Description
proline-rich coiled-coil 2B [Source:HGNC Symbol;Acc:28121]
Coordinates
chr9:134305477-134312109:+
Coord C1 exon
chr9:134305477-134305646
Coord A exon
chr9:134308004-134308181
Coord C2 exon
chr9:134312007-134312109
Length
178 bp
Sequences
Splice sites
3' ss Seq
CCATGTCCCTCTCCCTGCAGTTA
3' ss Score
10.76
5' ss Seq
GAGGTAAAC
5' ss Score
7.2
Exon sequences
Seq C1 exon
GCAGATCGGGAGCGGTGCCGAGAAAAATTTCCTTACTAGATGACATTTCATCGCAATGTCCGATCGTTTGGGGCAAATTACCAAGGGCAAGGATGGGAAAAGCAAGTACTCGACTCTCAGCCTGTTTGATAAGTATAAAGGAAAATCAGTAGACGCGATTAGATCCTCAG
Seq A exon
TTATTCCTAGACATGGCTTACAGAGTCTTGGGAAAGTTGCTGCAGCCCGGCGCATGCCACCGCCTGCAAACCTGCCAAGCTTGAAGTCTGAAAACAAAGGAAACGACCCCAACATCGTGATAGTACCCAAGGACGGGACGGGATGGGCAAACAAGCAGGATCAGCAAGACCCAAAGAG
Seq C2 exon
TTCCAGTGCGACGGCCTCTCAGCCGCCGGAGTCGCTGCCGCAGCCGGGTTTGCAGAAATCTGTCTCCAATTTGCAGAAACCGACACAGTCAATCAGTCAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130723-'3-5,'3-4,4-5=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=0.590 A=1.000 C2=1.000
Domain overlap (PFAM):

C1:
PF070016=BAT2_N=PU(27.9=97.4),PF130101=pRN1_helical=PU(65.3=82.1)
A:
PF070016=BAT2_N=FE(43.4=100),PF130101=pRN1_helical=PD(32.7=26.7)
C2:
PF070016=BAT2_N=FE(17.5=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
GCGGTGCCGAGAAAAATTTCC
R:
TGACTGTGTCGGTTTCTGCAA
Band lengths:
250-428
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains