HsaEX6016058 @ hg38
Exon Skipping
Gene
ENSG00000196504 | PRPF40A
Description
pre-mRNA processing factor 40 homolog A [Source:HGNC Symbol;Acc:HGNC:16463]
Coordinates
chr2:152671273-152673042:-
Coord C1 exon
chr2:152672978-152673042
Coord A exon
chr2:152672459-152672623
Coord C2 exon
chr2:152671273-152671381
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-'53-46,'53-41,56-46
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.250 A=0.326 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 Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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