HsaEX6069989 @ hg38
Exon Skipping
Gene
ENSG00000178882 | RFLNA
Description
refilin A [Source:HGNC Symbol;Acc:HGNC:27051]
Coordinates
chr12:124289164-124316022:+
Coord C1 exon
chr12:124289164-124289370
Coord A exon
chr12:124311818-124311927
Coord C2 exon
chr12:124314192-124316022
Length
110 bp
Sequences
Splice sites
3' ss Seq
GTCCCTGGCTCTCCCCACAGCCC
3' ss Score
11.3
5' ss Seq
CCGGTGAGT
5' ss Score
10.9
Exon sequences
Seq C1 exon
ACACTCAGTCTCTGATTTTATCCCTGCCCTGGCTTAATTAAGTGCTCTGAAGACATAAATAGGTTTTTTGTTTACTCAAGCTTGGGAGAAGCTGGCAGAAAAGGCCTTTTCAGCTAAAAGCTCCTTACAGCCGGAAGGTGTGAAGCGGCAAGTTTCCAGCCGGGAAGAAGCCTCTCAGCCGTAGGCGTCTTTGCCCGGAGCTGTGAG
Seq A exon
CCCCCCTCCCAACTCCCAAATCCCCCGGCGTCGGAGATGAGGCCCCGGATGCTGCCAGTGTTCTTTGGGGAGAGCATCAAGGTGAACCCGGAACCCACGCATGAGATCCG
Seq C2 exon
CTGCAACTCTGAGGTCAAGTACGCCTCGGAGAAGCATTTCCAGGACAAGGTCTTCTATGCGCCCGTACCCACCGTCACGGCCTACAGCGAGACCATCGTGGCAGCACCCAACTGCACGTGGCGCAACTACCGCAGCCAGCTGACCCTGGAGCCACGCCCGCGCGCCCTGCGCTTCCGCAGCACCACCATCATCTTCCCCAAGCATGCCAGGAGCACTTTCCGGACCACCCTGCACTGCAGCCTGGGCCGGCCCAGCCGCTGGTTCACCGCCAGCGTGCAGCTGCAGCTTTGCCAGGACCCTGCCCCCAGCCTCCTGGGCCCTGCCACGCTCTGACGGGGCTGGGGCCGGCCCGGGGTGCTGGAGGAGCCGGGAGCCCTGGGGAGAAGCCGGGAGGATGGACACGATGAGCTCGGCCTGGCACTCGGGCAGGAGGCGGGAAGGGAGGCTGCCAGACCAAGGACCCGTGTGGAAGGAGGCGGCTCCCCGCTGCCTGCCCTGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000178882-'21-45,'21-44,29-45=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.266 C2=0.012
Domain overlap (PFAM):
C1:
NA
A:
PF150681=FAM101=PU(19.5=96.0)
C2:
PF150681=FAM101=PD(79.7=87.5)
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:
GGAAGAAGCCTCTCAGCCGTA
R:
GGGAAGATGATGGTGGTGCTG
Band lengths:
243-353
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains