Special

HsaEX6016052 @ hg19

Exon Skipping

Gene
ENSG00000196504 | PRPF40A
Description
PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) [Source:HGNC Symbol;Acc:16463]
Coordinates
chr2:153535866-153547492:-
Coord C1 exon
chr2:153547476-153547492
Coord A exon
chr2:153537740-153537850
Coord C2 exon
chr2:153535866-153535986
Length
111 bp
Sequences
Splice sites
3' ss Seq
TTTTAATCTTTATTCTTTAGAAA
3' ss Score
8.34
5' ss Seq
GAGGTAAAA
5' ss Score
7.3
Exon sequences
Seq C1 exon
GTACAGCATCTGGTGCA
Seq A exon
AAATCAATGTGGACTGAACATAAATCACCTGATGGAAGGACTTACTACTACAACACTGAAACCAAACAGTCTACCTGGGAGAAACCAGATGATCTTAAAACACCTGCTGAG
Seq C2 exon
CAACTCTTATCTAAATGCCCCTGGAAGGAATACAAATCAGATTCTGGAAAGCCTTACTATTATAATTCTCAAACAAAAGAATCTCGCTGGGCCAAACCTAAAGAACTTGAGGATCTTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196504-'15-20,'15-19,16-20=AN
Average complexity
A_S
Mappability confidence:
88%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.820 C2=0.527
Domain overlap (PFAM):

C1:
PF0039721=WW=PU(0.1=0.0)
A:
PF0039721=WW=PD(93.3=75.7)
C2:
PF0039721=WW=WD(100=73.2)


Main Inclusion Isoform:


Main Skipping Isoform:


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:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains