Special

HsaEX6016058 @ hg19

Exon Skipping

Gene
ENSG00000196504 | PRPF40A
Description
PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) [Source:HGNC Symbol;Acc:16463]
Coordinates
chr2:153527787-153529556:-
Coord C1 exon
chr2:153529492-153529556
Coord A exon
chr2:153528973-153529137
Coord C2 exon
chr2:153527787-153527895
Length
165 bp
Sequences
Splice sites
3' ss Seq
ACATGGTATTTTTATATTAGTGC
3' ss Score
4.29
5' ss Seq
CAAGTAAGA
5' ss Score
7.61
Exon sequences
Seq C1 exon
CGGGTACCATCGAATGCTTCATGGGAGCAGGCTATGAAAATGATTATTAATGATCCACGATACAG
Seq A exon
TGCTTTGGCAAAGTTAAGTGAAAAAAAGCAAGCCTTTAATGCCTATAAAGTCCAGACAGAAAAAGAAGAAAAAGAAGAAGCAAGATCAAAGTACAAAGAGGCTAAGGAATCCTTTCAGCGTTTTCTTGAAAATCATGAGAAAATGACTTCTACAACCAGATACAA
Seq C2 exon
AAAAGCAGAGCAAATGTTTGGAGAGATGGAAGTTTGGAATGCAATATCAGAACGTGATCGTCTTGAAATCTATGAAGATGTTTTGTTCTTTCTTTCAAAAAAAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196504-'23-27,'23-26,25-27=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.227 A=0.339 C2=0.027
Domain overlap (PFAM):

C1:
PF0184614=FF=FE(42.0=100)
A:
PF0184614=FF=PD(30.0=26.8),PF0184614=FF=PU(44.0=39.3)
C2:
PF0184614=FF=PD(54.0=73.0)


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:
GGTACCATCGAATGCTTCATGG
R:
AAACATCTTCATAGATTTCAAGACGA
Band lengths:
146-311
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains