Special

HsaEX6016064 @ hg19

Exon Skipping

Gene
ENSG00000196504 | PRPF40A
Description
PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) [Source:HGNC Symbol;Acc:16463]
Coordinates
chr2:153519549-153520481:-
Coord C1 exon
chr2:153520390-153520481
Coord A exon
chr2:153520169-153520285
Coord C2 exon
chr2:153519549-153519686
Length
117 bp
Sequences
Splice sites
3' ss Seq
TTAAGATTTCTTTTTTTTAGGAT
3' ss Score
9.76
5' ss Seq
AGTGTAAGT
5' ss Score
8.46
Exon sequences
Seq C1 exon
GATCAACTGCACTTGATCTTTTCAAGTTTTATGTTGAGGATCTTAAAGCACGTTATCATGACGAGAAGAAGATAATAAAAGACATTCTAAAG
Seq A exon
GATAAAGGATTTGTAGTTGAAGTAAACACTACTTTTGAAGATTTTGTGGCGATAATCAGTTCAACTAAAAGATCAACTACATTAGATGCTGGAAATATCAAATTGGCTTTCAATAGT
Seq C2 exon
TTACTAGAAAAGGCAGAAGCCCGTGAACGTGAAAGAGAAAAAGAAGAGGCTCGGAAGATGAAACGAAAAGAATCTGCATTTAAGAGTATGTTAAAACAAGCTGCTCCTCCGATAGAATTGGATGCTGTCTGGGAAGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000196504-'30-35,'30-34,31-35=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.489
Domain overlap (PFAM):

C1:
PF0184614=FF=PD(17.9=32.3)
A:
NO
C2:
PF0184614=FF=PU(46.2=52.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
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:
TCAACTGCACTTGATCTTTTCAA
R:
TCTTCCCAGACAGCATCCAAT
Band lengths:
227-344
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains