Special

HsaEX0057749 @ hg38

Exon Skipping

Gene
Description
sideroflexin 5 [Source:HGNC Symbol;Acc:HGNC:16073]
Coordinates
chr2:72971570-73001578:-
Coord C1 exon
chr2:73001525-73001578
Coord A exon
chr2:73000431-73000487
Coord C2 exon
chr2:72971570-72971685
Length
57 bp
Sequences
Splice sites
3' ss Seq
CTCTCATCATTGCCTTTCAGTGG
3' ss Score
7.52
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
Exon sequences
Seq C1 exon
GTAGTCGGTCTTCTCTTGCCCAACCAGACACTGGCATCCACTGTCTTCTGGCAG
Seq A exon
TGGCTGAACCAGAGCCACAATGCCTGTGTCAACTATGCAAACCGCAATGCGACCAAG
Seq C2 exon
CCAGTGCCAATATCTGCAATGTGGTCCTGATGCGGTACGGGGAGCTGGAGGAAGGGATTGATGTCCTGGACAGCGATGGCAACCTCGTGGGCTCCTCCAAGATCGCAGCCCGACAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000144040_MULTIEX1-2/12=1-5
Average complexity
C2*
Mappability confidence:
92%=100=92%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.078 C2=0.000
Domain overlap (PFAM):

C1:
PF0382012=Mtc=FE(5.5=100)
A:
PF0382012=Mtc=FE(10.4=100)
C2:
PF0382012=Mtc=FE(12.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGACACTGGCATCCACTGTC
R:
GATCTTGGAGGAGCCCACGAG
Band lengths:
134-191
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development