HsaEX6016064 @ hg38
Exon Skipping
Gene
ENSG00000196504 | PRPF40A
Description
pre-mRNA processing factor 40 homolog A [Source:HGNC Symbol;Acc:HGNC:16463]
Coordinates
chr2:152663035-152663967:-
Coord C1 exon
chr2:152663876-152663967
Coord A exon
chr2:152663655-152663771
Coord C2 exon
chr2:152663035-152663172
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-'70-66,'70-64,72-66=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=0.500
Domain overlap (PFAM):
C1:
PF0184614=FF=PD(17.9=32.3)
A:
NO
C2:
PF0184614=FF=PU(46.2=52.2)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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