Special

HsaEX7007563 @ hg38

Exon Skipping

Gene
Description
refilin A [Source:HGNC Symbol;Acc:HGNC:27051]
Coordinates
chr12:123973886-124235602:+
Coord C1 exon
chr12:123973886-123974020
Coord A exon
chr12:124149595-124149791
Coord C2 exon
chr12:124235545-124235602
Length
197 bp
Sequences
Splice sites
3' ss Seq
TCACCTTTTCTCCTTTCCAGGCC
3' ss Score
12.52
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
Exon sequences
Seq C1 exon
GGCGCCCTGCGTCCGGCAGAGGAGGCGAGCATCCCGCTCAGGTGATGAGGAACCCCTCGCGCACCCAGCGCAGAAGGCTGCTGCCGCCGGACGCCTCCATTGTTTGACCACAACAAGGGCCGGATTCTCACCCAG
Seq A exon
GCCGCACTTGGTGAGAGTCTTCACGGACCACAGTGTTGCACGAGGTGATTGTGTTTGCAGAGGTTTTTTTGTCCTTGAAGAGCACTTAGGGCTGGAGAGCAAGACACATGCTGACGAGCAGAAGCTGACAGGCTTGCTGCCATGTGGGAAAGTCCTTGGACGAGTTGTCTGCTTGCGGAGAGGTGTCTGCGGCTCAG
Seq C2 exon
CACTTAAGGAAGACCCAAAATTCAGTGAGTGAGTCCCCATCAACCACCAGAAACAGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000178882-'2-29,'2-12,18-29=AN
Average complexity
A_C3
Mappability confidence:
97%=100=100%
Protein Impact

5' UTR

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

C1:
NA
A:
NA
C2:
NA


Main Inclusion Isoform:
NA


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGCAGAGGAGGCGAGCATC
R:
TCTGTTTCTGGTGGTTGATGGG
Band lengths:
178-375
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains